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Overview:

  • Number of new terms: 391
  • Number of changed labels: 24
  • Number of changed definitions: 13
  • Number obsoleted terms: 47
  • Number of new obsoletion candidates: 35
  • Number of terms who were previously candidate for obsoletion and are now not anymore: 0

New terms

Mondo ID Label Definition
MONDO:0000140 obsolete MONDO:0000140
MONDO:0000528 obsolete MONDO:0000528
MONDO:0000529 obsolete MONDO:0000529
MONDO:0000559 obsolete MONDO:0000559
MONDO:0000575 obsolete MONDO:0000575
MONDO:0000817 obsolete MONDO:0000817
MONDO:0000821 obsolete MONDO:0000821
MONDO:0000823 obsolete MONDO:0000823
MONDO:0000842 obsolete MONDO:0000842
MONDO:0000843 obsolete MONDO:0000843
MONDO:0000915 obsolete MONDO:0000915
MONDO:0001201 obsolete MONDO:0001201
MONDO:0001605 obsolete MONDO:0001605
MONDO:0001659 obsolete MONDO:0001659
MONDO:0002733 obsolete MONDO:0002733
MONDO:0002773 obsolete MONDO:0002773
MONDO:0002780 obsolete MONDO:0002780
MONDO:0003323 obsolete MONDO:0003323
MONDO:0003576 obsolete MONDO:0003576
MONDO:0003597 obsolete MONDO:0003597
MONDO:0003625 obsolete MONDO:0003625
MONDO:0003986 obsolete MONDO:0003986
MONDO:0004036 obsolete MONDO:0004036
MONDO:0004137 obsolete MONDO:0004137
MONDO:0004347 obsolete MONDO:0004347
MONDO:0004915 obsolete MONDO:0004915
MONDO:0004916 obsolete MONDO:0004916
MONDO:0005274 obsolete MONDO:0005274
MONDO:0005332 obsolete MONDO:0005332
MONDO:0005681 obsolete MONDO:0005681
MONDO:0005713 obsolete MONDO:0005713
MONDO:0005860 obsolete MONDO:0005860
MONDO:0006023 obsolete MONDO:0006023
MONDO:0006707 obsolete MONDO:0006707
MONDO:0006885 obsolete MONDO:0006885
MONDO:0014188 obsolete MONDO:0014188
MONDO:0014913 obsolete MONDO:0014913
MONDO:0020758 obsolete MONDO:0020758
MONDO:0021307 obsolete MONDO:0021307
MONDO:0021690 obsolete congenital left ventricular aneurysm OBSOLETE. A rare congenital non-syndromic heart malformation characterized by a bulging of the left ventricular wall, connected to the left ventricle by a wide neck (with a ratio of the connection to the body of the anomaly >1). The dimensions of described aneurysms range from 0.5 cm in diameter up to a size of 8x9 cm. Most frequent locations are the left ventricular apex and the perivalvular area. Aneurysms can be a- or dyskinetic or show almost normal contractility. Patients may remain asymptomatic or present with systemic embolization, congestive heart failure, valvular regurgitation, ventricular wall rupture, ventricular tachycardia, or sudden cardiac death. [Orphanet:1055]
MONDO:0023539 obsolete MONDO:0023539
MONDO:0024145 obsolete Pierre Robin syndrome associated with collagen disease
MONDO:0024147 obsolete Pierre Robin syndrome associated with a chromosomal anomaly
MONDO:0024148 obsolete Pierre Robin syndrome associated with branchial archs anomalies
MONDO:0024149 obsolete Pierre Robin syndrome associated with bone disease
MONDO:0024581 obsolete MONDO:0024581
MONDO:0024772 intellectual developmental disorder, X-linked, syndromic, Pilorge type
MONDO:0024773 spermatogenic failure, x-linked, 4
MONDO:0024812 obsolete MONDO:0024812
MONDO:0024987 obsolete genetic urogenital tract malformation
MONDO:0026141 obsolete genetic urticaria
MONDO:0026150 obsolete genetic erythrokeratoderma
MONDO:0026151 obsolete genetic acrokeratoderma
MONDO:0026152 obsolete genetic porokeratosis
MONDO:0026157 obsolete genetic pigmentation anomaly of the skin
MONDO:0026160 obsolete genetic dermis disorder
MONDO:0026166 obsolete genetic immune deficiency with skin involvement
MONDO:0026167 obsolete genetic neuromuscular disease
MONDO:0026170 obsolete genetic central nervous system malformation
MONDO:0026173 obsolete rare genetic medullar disease
MONDO:0026180 obsolete genetic congenital limb malformation
MONDO:0026181 obsolete genetic renal or urinary tract malformation
MONDO:0026182 obsolete genetic cranial malformation
MONDO:0026183 obsolete genetic digestive tract malformation
MONDO:0026184 obsolete genetic visceral malformation of the liver, biliary tract, pancreas or spleen
MONDO:0026185 obsolete genetic respiratory or mediastinal malformation
MONDO:0026186 obsolete genetic developmental defect of the eye
MONDO:0026187 obsolete genetic malformation syndrome with short stature
MONDO:0026188 obsolete genetic overgrowth/obesity syndrome
MONDO:0026189 obsolete genetic branchial arch or oral-acral syndrome
MONDO:0026190 obsolete genetic malformation syndrome with odontal and/or periodontal component
MONDO:0026192 obsolete genetic glomerular disease
MONDO:0026193 obsolete genetic thrombotic microangiopathy
MONDO:0026203 obsolete genetic respiratory malformation
MONDO:0026209 obsolete genetic polyendocrinopathy
MONDO:0026419 obsolete isolated corpus callosum agenesis OBSOLETE. A rare non-syndromic cerebral malformation characterized by congenital partial or complete absence of the corpus callosum. Patients are often asymptomatic but may also present with intellectual disability, visual impairment, delayed speech development, seizures, feeding difficulties, impaired hand-eye coordination, and behavioral abnormalities. Patients may have a normal intelligence quotient while exhibiting specific cognitive deficits, such as reduced interhemispheric transfer of sensorimotor information, reduced cognitive processing speed, and deficits in complex reasoning and novel problem-solving. [Orphanet:200]
MONDO:0026989 obsolete syndrome associated with hypertrophic cardiomyopathy
MONDO:0027929 obsolete genetic polycythemia
MONDO:0028569 obsolete genetic interstitial lung disease
MONDO:0028795 obsolete rare genetic systemic or rheumatologic disease
MONDO:0028868 obsolete genetic frontotemporal degeneration with dementia
MONDO:0029014 obsolete rare systemic or rheumatological disease of childhood
MONDO:0029051 obsolete autosomal recessive nail dysplasia OBSOLETE. Autosomal recessive nail dysplasia is a rare, isolated nail anomaly characterized by claw-shaped, thick, hyperplastic, hard and hyperpigmented nails, subungual hyperkeratosis, onycholysis and slow nail growth. Variable degree of disease severity has been reported. [Orphanet:280654]
MONDO:0029102 obsolete autosomal ichthyosis syndrome with other associated signs
MONDO:0029810 obsolete laminopathy with striated muscle involvement
MONDO:0029811 obsolete laminopathy with peripheral neuropathy
MONDO:0029812 obsolete laminopathy with lipodystrophy
MONDO:0029813 obsolete laminopathy with premature aging
MONDO:0030016 obsolete MONDO:0030016
MONDO:0030052 obsolete disease with punctate palmoplantar keratoderma as a major feature
MONDO:0030407 obsolete rare disease with Cushing syndrome as a major feature
MONDO:0030537 central hypoventilation syndrome, congenital, 2, and autonomic dysfunction
MONDO:0030539 central hypoventilation syndrome, congenital, 3
MONDO:0030549 hearing loss, autosomal dominant 81
MONDO:0030608 interstitial lung disease 1
MONDO:0030625 dyskinesia with orofacial involvement, autosomal recessive
MONDO:0030634 leukoencephalopathy, hereditary diffuse, with spheroids 2
MONDO:0030639 Teebi hypertelorism syndrome
MONDO:0030673 spastic paraplegia 86, autosomal recessive
MONDO:0030674 Teebi hypertelorism syndrome 2
MONDO:0030676 parkinsonism-dystonia 3, childhood-onset
MONDO:0030677 Charcot-Marie-Tooth disease, demyelinating, IIA 1I
MONDO:0030679 Noonan syndrome 14
MONDO:0030680 cardiomyopathy, dilated, 2F
MONDO:0030681 immunodeficiency 94 with autoinflammation and dysmorphic facies
MONDO:0030684 hypogonadotropic hypogonadism 27 without anosmia
MONDO:0030689 Charcot-Marie-Tooth disease, demyelinating, IIA 1H
MONDO:0030690 pulmonary fibrosis and/or bone marrow failure, telomere-related, 6
MONDO:0030692 immunodeficiency 95
MONDO:0030693 immunodeficiency 96
MONDO:0030695 developmental and epileptic encephalopathy 100
MONDO:0030696 mitochondrial DNA depletion syndrome 20 (mngie type)
MONDO:0030697 myopia 28, autosomal recessive
MONDO:0030711 anemia, congenital dyserythropoietic, IIA IIIB, autosomal recessive
MONDO:0030712 oculopharyngodistal myopathy 4
MONDO:0030714 osteogenesis imperfecta, IIA 22
MONDO:0030716 spermatogenic failure 66
MONDO:0030717 immunodeficiency 97 with autoinflammation
MONDO:0030718 spermatogenic failure 67
MONDO:0030719 deafness, autosomal dominant 82
MONDO:0030721 spermatogenic failure 68
MONDO:0030723 hearing loss, autosomal dominant 83
MONDO:0030724 hearing loss, autosomal dominant 84
MONDO:0030726 neutropenia, severe congenital, 9, autosomal dominant
MONDO:0030727 developmental and epileptic encephalopathy 101
MONDO:0030731 aortic aneurysm, familial thoracic 12
MONDO:0030732 spermatogenic failure 69
MONDO:0030733 spermatogenic failure 70
MONDO:0030736 ovarian dysgenesis 10
MONDO:0030767 obsolete genetic tumor of hematopoietic and lymphoid tissues
MONDO:0030796 leukoencephalopathy, hereditary diffuse, with spheroids
MONDO:0030831 gastrointestinal defect and immunodeficiency syndrome
MONDO:0031004 obsolete genetic disorder of sex development of gynecological interest
MONDO:0031016 obsolete genetic disorder of sex development
MONDO:0031115 dyskinesia with orofacial involvement
MONDO:0031199 inherited interstitial lung disease
MONDO:0031322 triopia A craniofacial malformation with prosencephalic duplication; the presence of three eyes.
MONDO:0031400 Tessadori-Van-Haaften neurodevelopmental syndrome
MONDO:0031689 obsolete genetic progeroid syndrome
MONDO:0031697 obsolete genetic intractable diarrhea of infancy
MONDO:0031698 obsolete genetic intestinal disease due to fat malabsorption
MONDO:0031799 obsolete rare bone disease related to a common gene or pathway defect
MONDO:0031949 obsolete genetic neurovascular malformation
MONDO:0031952 obsolete genetic syndromic esophageal malformation
MONDO:0032011 obsolete biological anomaly OBSOLETE. A disorder defined by a set of physiological abnormalities without clearly associated clinical manifestations. [Orphanet:377790]
MONDO:0032013 obsolete clinical syndrome OBSOLETE. A disorder with homogeneous therapeutic possibilities, regardless of the pathophysiological mechanism involved.
MONDO:0032014 obsolete particular clinical situation in a disease or syndrome OBSOLETE. A set of phenotypic abnormalities presenting in a subset of patients under particular circumstances.
MONDO:0032221 obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism
MONDO:0032576 obsolete MONDO:0032576
MONDO:0033056 obsolete genetic facial cleft
MONDO:0033329 obsolete genetic precocious puberty
MONDO:0033331 obsolete genetic precocious puberty in female
MONDO:0033334 obsolete genetic nose and cavum anomaly
MONDO:0033335 obsolete genetic larynx anomaly
MONDO:0033336 obsolete genetic tracheal anomaly
MONDO:0033900 obsolete rare capillary malformation with associated anomalies
MONDO:0033927 obsolete genetic complex vascular malformation with associated anomalies
MONDO:0034028 obsolete symptomatic form of hemochromatosis type 1 OBSOLETE. Symptomatic form of hemochromatosis type 1 is a rare, hereditary hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.
MONDO:0034039 obsolete genetic hemoglobinopathy
MONDO:0034443 obsolete genetic non-acquired premature ovarian failure
MONDO:0034556 vibratory angioedema Vibratory angioedema is a rare, inherited or sporadic, urticaria characterized by localized, typically long-lasting (hours to days), initially pruritic, painful, normocutaneous or erythematous, mucosal and/or cutaneous edema which is triggered by vibration. Laryngeal snoring-induced swelling may be life-threatening.
MONDO:0034641 obsolete rare genetic hyperkinetic movement disorder
MONDO:0034661 syndromic biliary atresia
MONDO:0034663 obsolete genetic inflammatory or rheumatoid-like osteoarthropathy
MONDO:0034667 obsolete longitudinal limb defect
MONDO:0034668 obsolete terminal transverse limb defect
MONDO:0034669 non-syndromic preaxial polydactyly
MONDO:0034670 non-syndromic postaxial polydactyly
MONDO:0034671 non-syndromic complex polydactyly
MONDO:0034673 obsolete ectrodactyly with and without other manifestations
MONDO:0034676 overgrowth syndrome with 2q37 translocation A rare overgrowth syndrome with skeletal involvement characterized by long and slim body habitus and multiple skeletal manifestations, such as scoliosis, macrodactyly of the big toes, arachnodactyly of fingers and toes, camptodactyly and clinodactyly, and progressive valgus deformities of the feet. Epimetaphyseal dysplasia, bowing of the tibiae, and dysmorphic facial features (hypertelorism, high palate, or micrognathia), as well as aortic root dilatation and umbilical hernia have also been reported.
MONDO:0034678 obsolete mirror-image polydactyly OBSOLETE. A rare non-syndromic limb malformation characterized by a hand or foot with more than five digits that has a recognizable anterior/posterior axis of symmetry, either with a hallux- or thumb-like structure or an interdigital space in the middle. The most lateral digits on each side typically resemble fifth fingers or toes. The malformation may be unilateral or bilateral and may occur in isolation or in association with other congenital anomalies. [Orphanet:498494]
MONDO:0034733 obsolete cochlear nerve deficiency OBSOLETE. A rare otorhinolaryngological malformation characterized by a hypoplastic or absent cochlear nerve, resulting in variable hearing loss or total deafness, depending on the quantity of nerve fibers present. The condition can be unilateral or bilateral, occur as an isolated malformation or in the context of a complex syndrome, and may be associated with a hypoplastic internal auditory or cochlear nerve canal. [Orphanet:502318]
MONDO:0034819 obsolete familial intestinal malrotation OBSOLETE. A rare familial intestinal malformation characterized by failure of the rotation of the developing gastrointestinal tract around the superior mesenteric artery during embryonic development, resulting in a spectrum of abnormalities of intestinal position and fixation. Patients most typically present in the neonatal period with midgut volvulus, which can lead to short bowel syndrome or even death. Signs and symptoms include bilious vomiting, feeding intolerance, failure to thrive, constipation, bloody stools, or intermittent apnea. The condition may also manifest later in life with complications like kinking or hernias and a broad range of intestinal symptoms. It can be an isolated finding or occur in association with other anomalies.
MONDO:0034820 cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome A rare genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability characterized by unilateral or bilateral cleft lip and palate and craniofacial dysmorphism (including frontal bossing, hypertelorism, broad flat nasal bridge, cupped ears/thickened helices, and micrognathia). Additional manifestations are variable congenital cardiac anomalies, pectus excavatum, abnormalities of the hands and feet, ocular abnormalities (myopia, cataract, staphyloma), and conductive or sensorineural hearing loss.
MONDO:0034823 oral-facial-digital syndrome with short stature and brachymesophalangy A rare ciliopathy characterized by oral anomalies (multiple oral frenula, missing incisors), facial dysmorphism (such as square face with small forehead, upslanting palpebral fissures, and cleft lip, among other features), digital anomalies (brachydactyly, brachymesophalangy, polydactyly), and short stature. Additional reported manifestations include short femoral neck, bilateral cervical ribs, abnormal vertebral bodies, and gracile long bones.
MONDO:0034872 large granular lymphocyte leukemia
MONDO:0034895 congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome A rare syndromic esophageal malformation characterized by severe congenital brachyesophagus with midline diaphragmatic hernia and secondary intrathoracic stomach, and vertebral anomalies (in particular rachischisis of the cervical/thoracic spine). Additional reported manifestations include intrauterine growth restriction, short neck, intestinal malrotation, herniation of other abdominal organs, and cleft lip, among others. The condition is mostly fatal in the neonatal or early infantile period.
MONDO:0034901 ATP13A2-related parkinsonism
MONDO:0034923 obsolete inflammatory/autoimmune disorder involving the lacrimal system
MONDO:0034926 obsolete rare disorder with entropion
MONDO:0034931 obsolete rare conjunctivitis
MONDO:0034937 obsolete syndromic ectopia lentis
MONDO:0034943 obsolete isolated vitreoretinopathy
MONDO:0034953 obsolete syndromic inherited retinal disorder
MONDO:0034954 syndromic vitreoretinopathy
MONDO:0034961 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature
MONDO:0034962 obsolete rare ophthalmic disorder with cortical involvement
MONDO:0034965 obsolete rare ophthalmic disorder with cranial nerve involvement
MONDO:0034968 obsolete rare ocular motility/alignment disorder
MONDO:0034971 isolated congenital entropion A rare eyelid malposition disorder characterized by congenital abnormal inversion of the eyelid towards the globe, potentially causing mechanical irritation of the ocular surface by the eyelashes, which may lead to corneal abrasion and scarring with visual impairment. Typical initial symptoms are foreign body sensation, redness, tearing, and ocular discharge.
MONDO:0034977 obsolete isolated microspherophakia OBSOLETE. A rare disorder of the anterior segment of the eye characterized by the presence of an unusually small and spherical lens with increased anteroposterior thickness, and visibility of the lens equator on full mydriasis. The condition is typically bilateral and may be associated with lens dislocation or subluxation, lenticular myopia, and secondary angle-closure glaucoma.
MONDO:0034978 isolated foveal hypoplasia A rare macular disorder characterized mostly by a variable degree of decreased visual acuity, jerk or pendular nystagmus, and typical ocular findings at imaging. The disease is usually bilateral. Rarely, nystagmus can be absent. Locally, the disease is characterized by underdeveloped foveal pit, absence of foveal pigmentation and/or foveal avascular zone, and persistence of inner retinal layers at the fovea, in absence of concomitant ocular or systemic pathology.
MONDO:0034979 obsolete peripapillary staphyloma OBSOLETE. A rare congenital optic disc excavation characterized by deep fundus excavation of chorioretinal atrophy surrounding a relatively normal appearing optic disc. Retinal vasculature is normal, and retinochoroidal coloboma and glial anomalies are absent. Patients present with mostly unilateral markedly reduced visual acuity. Association with other congenital defects or systemic diseases is uncommon. [Orphanet:519400]
MONDO:0034980 obsolete isolated megalopapilla OBSOLETE. A rare ophthalmic disorder characterized by an abnormally large optic disc (greater than 2.1 mm in diameter). The anomaly is usually bilateral with otherwise normal configuration of the disc, and typically associated with an increased cup-to-disc ratio, a round or horizontal oval optic cup, and an intact, pale-appearing neuroretinal rim. In a less frequent variant, a unilateral, anomalous superior excavation obliterates part of the adjacent neuroretinal rim. In general, visual acuity and visual fields are normal, except for an enlarged blind spot. Ciliary arteries are more common in megalopapilla.
MONDO:0034981 obsolete optic disc pit OBSOLETE. A rare ophthalmic disorder characterized by a usually congenital and unilateral round or oval, gray, white, or yellowish depression in the optic disc. There may be more than one pit present in one eye, and the anomaly is most commonly found in the inferotemporal region of the optic disc, although any sector may be involved. Patients are often asymptomatic, or may present with visual field defects, in particular paracentral arcuate scotoma connected to an enlarged blind spot. A number of patients develop serous macular detachment, with loss of vision typically becoming apparent in the third or fourth decade of life. [Orphanet:519404]
MONDO:0035001 obsolete rare disorder of the visual organs
MONDO:0035002 isolated inherited retinal disorder
MONDO:0035013 obsolete genetic primary orthostatic disorder
MONDO:0035014 primary orthostatic disorder
MONDO:0035018 frontonasal dysplasia-bifid nose-upper limb anomalies syndrome A rare syndromic frontonasal dysplasia characterized by distinctive facial dysmorphic features including hypertelorism, almond-shaped palpebral fissures, nasal deformity with creased ridge, depressed or absent tip, and asymmetry and partial absence of nasal bones, and downturned corners of the mouth. Additional reported manifestations are limb anomalies (e. g. Poland anomaly, transverse limb agenesis, and anomalies of the hands and feet, such as camptodactyly, oligodactyly, clinodactyly, and syndactyly), frontonasal encephalocele, choanal atresia, congenital renal/cardiac malformations, and corpus callosum agenesis.
MONDO:0035027 microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
MONDO:0035037 obsolete rare genetic disorder of the visual organs
MONDO:0035075 secondary early-onset glaucoma of genetic origin
MONDO:0035105 diaphragmatic hernia-short bowel-asplenia syndrome A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported.
MONDO:0035149 secondary erythromelalgia
MONDO:0035151 17q24.2 microdeletion syndrome A rare, genetic, multiple congenital anomalies/dysmorphic features-intellectual disability syndrome characterized by developmental and speech delay, intellectual disability, feeding difficulties, failure to thrive, growth retardation, and associated malformations such as abnormality of fingers and toes (i.e. clinodactyly of the 5th finger, 2-3 toe syndactyly), microcephaly, heart defects, and upper airways anomalies. Observed facial dysmorphism includes hypertelorism, small, narrow or downslanting palpebral fissures, ptosis, epicanthus, ear malformations, broad nasal bridge, bulbous/prominent nose, short philtrum, thin lips, retrognathia/micrognathia, arched/cleft palate, and dental anomalies. Additional variable manifestations include hearing and visual impairment, seizures, joint anomalies, obesity, and behavioral/psychiatric disorders.
MONDO:0035153 male infertility due to acephalic spermatozoa
MONDO:0035159 dermoid or epidermoid cyst of the central nervous system A rare congenital tumor characterized by a benign cyst with epithelial and epidermoid components, originating from embryologic displacement and ectopic growth of ectodermal tissue in the central nervous system. In contrast to epidermoid cysts, dermoid cysts also contain dermis and skin appendages. Most common location is the lumbosacral region, as well as the cerebellopontine angle and parasellar area for intracranial lesions. Clinical presentation depends on the location and size of the tumor and includes pain, muscle weakness, motor and sensory disturbances, and incontinence for intraspinal lesions, and intracranial hypertension, gait disturbances, cranial nerve dysfunction, and visual deficits for intracranial tumors. The cysts may rupture and cause chemical meningitis.
MONDO:0035160 progressive myoclonic epilepsy with neuroserpin inclusion bodies
MONDO:0035161 progressive dementia with neuroserpin inclusion bodies
MONDO:0035162 PIK3CA-related overgrowth syndrome
MONDO:0035173 9q21.13 microdeletion syndrome A rare, genetic, intellectual disability malformation syndrome characterized by global developmental delay, intellectual disability, delayed speech and language development, epilepsy, autistic behavior, and moderate facial dysmorphism (including elongated face, narrow forehead, arched eyebrows, horizontal palpebral fissures, hypertelorism, epicanthus, midface flattening, short nose, long and featureless philtrum, thin upper lip, macrostomia, and prominent chin). Additional variable manifestations include microcephaly, hypotonia, hypertrichosis, and strabismus.
MONDO:0035220 PLG-related hereditary angioedema with normal C1inh
MONDO:0035235 classic pyoderma gangrenosum A rare subtype of pyoderma gangrenosum disease characterized by rapidly progressive, single or multiple, painful, aseptic ulcers which present overhanging, violaceous and undermined borders, surrounding induration and erythema, and granulation tissue (occasionally necrotic tissue and/or a purulent exudate) at the base, mainly affecting the legs (but other body surfaces may also be involved), leading to chronic ulcerations and often regressing with cribriform mutilating scars. The disease presents a chronic relapsing course and systemic features (e.g. fever, malaise, arthralgia, myalgia) may be associated.
MONDO:0035236 pustular pyoderma gangrenosum A rare subtype of pyoderma gangrenosum characterized by multiple painful, sterile pustules with a surrounding erythematous halo, predominantly occurring on the trunk and extensor surfaces of the limbs, and potentially persisting for months. Histopathology shows a dermal neutrophilic infiltrate and subcorneal neutrophilic micropustules. The condition is commonly associated with inflammatory bowel disease.
MONDO:0035237 bullous pyoderma gangrenosum A rare subtype of pyoderma gangrenosum disease characterized by grouped vesicles that rapidly spread and coalesce to form large bullae, which evolve into ulcerations that have an erythematous peripheral halo and central necrosis, mainly affecting the upper limbs and face. Lymphoproliferative diseases are frequently associated, thus prognosis is often compromised.
MONDO:0035238 vegetative pyoderma gangrenosum A rare subtype of pyoderma gangrenosum disease characterized by a solitary, erythematous, ulcerated plaque, which lacks the violaceous border typically present in classic pyoderma gangrenosum, usually affecting individuals who are otherwise healthy. Histologically, the lesion presents a central layer containing neutrophilic inflamation, surrounded by a palisade of histiocytes, which are rimmed by a lymphocytic infiltrate. In comparison with the other variants of pyoderma gangrenosum, this subtype usually shows a good response to less aggressive treatments and underlying systemic disorders are less frequently associated. It is considered the most benign and uncommon clinical variant of pyoderma gangrenosum.
MONDO:0035249 obsolete anomalous aortic origin of the left coronary artery OBSOLETE. A rare coronary artery congenital malformation characterized by an anomalous origin and course of the left coronary artery, which originates from the right aortic sinus of Valsalva and has an abnormal proximal course, which may be intramural, prepulmonic, subpulmonic, retroaortic, retrocardiac or wrapped around the apex. Patients are frequently asymptomatic, although chest pain, dyspnea, palpitations, dizziness, syncope, and sudden cardiac arrest/death (typically following intense physical exertion) may be observed. This malformation is associated with a high risk of sudden cardiac death so surgical revascularization is recommended even in cases with no associated evidence of myocardial ischemia. [Orphanet:541443]
MONDO:0035250 obsolete anomalous aortic origin of the right coronary artery OBSOLETE. A rare coronary artery congenital malformation characterized by an anomalous origin and course of the right coronary artery, which originates from the left aortic sinus of Valsalva and has an abnormal proximal course, which may be intramural, prepulmonic, subpulmonic, retroaortic, retrocardiac or wrapped around the apex. Patients are frequently asymptomatic, although chest pain, dyspnea, palpitations, dizziness, syncope, and sudden cardiac arrest/death (typically following intense physical exertion) may be observed. This malformation is associated with a lower risk of sudden cardiac death therefore surgical revascularization is recommended only when signs and/or symptoms of ischemia are present. [Orphanet:541454]
MONDO:0035251 obsolete anomalous aortic origin of coronary artery OBSOLETE. A rare group of coronary artery congenital malformation disorders characterized by an anomalous origin and course of the left or right coronary artery, which originates from the contralateral aortic sinus of Valsalva and has an anomalous trajectory which may be: pre-pulmonary (with no hemodynamic consequences), retroaortic (with a course posterior to the aortic root and no hemodynamic consequences), interarterial (located between the aorta and the pulmonary artery and associated with a poorer prognosis), subpulmonary (with an intraconal or intraseptal course), or retrocardiac (located in the posterior atrioventricular sulcus). Clinical manifestations depend on the specific anomalous origin and course which is present, with patients being frequently asymptomatic, although nonspecific chest pain, palpitations, dizziness, dyspnea or syncope, usually following physical exertion, may be associated. Sudden death, due to compression/occlusion of the coronary artery and usually associated with, or immediately following, vigorous physical exercise, may be occasionally observed. [Orphanet:541478]
MONDO:0035252 obsolete anomalous origin of coronary artery from the pulmonary artery OBSOLETE. A rare coronary artery congenital malformation characterized by an anomalous origin of the left (ALCAPA) or right (ARCAPA) coronary artery from the pulmonary artery, with variable clinical presentation, ranging from asymptomatic to early heart failure and death depending on the degree of development of collateral circulation between the left and right coronary artery systems, as well as the pressure level of the pulmonary artery. Infants typically present with feeding difficulties, failure to thrive, dyspnea, irritability, hyperhidrosis, heart murmurs, tachypnea, tachycardia and/or chest pain while adults usually associate dyspnea, chest pain, syncope, and intolerance to physical exercise. Sudden death may occur due to congestive heart failure, myocardial infarction, valvular insufficiencies or ventricular arrhythmias. The majority of cases reported are of an ALCAPA, while ARCAPA is rarely observed. [Orphanet:541507]
MONDO:0035267 obsolete quadricuspid aortic valve OBSOLETE. A rare congenital aortic malformation characterized by an aortic valve with four cusps instead of the usual three. The cusps can be equal-sized or vary in size. The malformation is an isolated finding in the majority of cases but may also be associated with other cardiac anomalies. The most common complication is aortic regurgitation. Aortic stenosis is infrequently observed. Patients usually become symptomatic in the fifth to sixth decade of life and may present with palpitations, chest pain, dyspnea, fatigue, pedal edema, and syncope. In severe cases, congestive heart failure can be the presenting symptom. [Orphanet:542568]
MONDO:0035274 obsolete anomaly of the coronary ostia OBSOLETE. A group of rare congenital coronary artery malformations comprising abnormal number of coronary ostia, malposition of a coronary ostium, and stenosis or atresia of a coronary ostium. Patients may remain asymptomatic or present with variable signs and symptoms, depending on the nature and severity of the malformation, including failure to thrive, dyspnea, syncope, angina pectoris, ventricular tachycardia, and myocardial ischemia. [Orphanet:542822]
MONDO:0035290 atypical hemolytic uremic syndrome with complement gene abnormality
MONDO:0035293 streptococcus pneumoniae-associated hemolytic uremic syndrome
MONDO:0035295 congenital primary megaureter, refluxing and obstructed form
MONDO:0035312 fibrohistiocytic inflammatory pseudotumor of the liver A subtype of inflammatory pseudotumor of the liver characterized by a benign, well-circumscribed tumor with fibrohistiocytic infiltration (including xanthogranulomatous inflammation, multinucleated giant cells, and neutrophilic infiltration), typically localized in the peripheral hepatic parenchyma. Presentation may be of non-specific symptoms (fever, malaise, and abdominal pain) or as an incidental finding.
MONDO:0035313 lymphoplasmacytic inflammatory pseudotumor of the liver A subtype of inflammatory pseudotumor of the liver characterized by a benign, well-circumscribed tumor with diffuse lymphoplasmacytic infiltration with histological features of IgG4-related disease (numerous IgG4-positive plasma cells, prominent eosinophils, stromal fibrosis, fibroblastic proliferations and, frequently, obliterative phlebitis), and that is likely located around the hepatic hilum. Most often it is discovered as an incidental finding.
MONDO:0035314 obsolete congenital tricuspid valve dysplasia OBSOLETE. A rare congenital tricuspid malformation characterized by irregular thickening of the leaflet tissue by myxoid connective tissue in a normally delaminated tricuspid valve, without septal leaflet displacement, and without an atrialized right ventricle. The chordae tendineae may be short or absent. The affected valve is stenotic and/or incompetent. Clinically, most patients are asymptomatic and are diagnosed in the context of the evaluation of a murmur. [Orphanet:555874]
MONDO:0035320 early-onset familial hypoaldosteronism A rare type of familial hypoaldosteronism characterized by early infantile onset of vomiting, diarrhea, severe dehydration, and failure to thrive. Analysis of plasma electrolytes shows hyponatremia, hyperkalemia, and acidosis. Plasma renin activity is elevated, and aldosterone levels are low.
MONDO:0035321 late-onset familial hypoaldosteronism A rare form of familial hypoaldosteronism characterized by adult onset of subnormal plasma aldosterone with elevated plasma renin activity, hyperkalemia, metabolic acidosis, and hypotension. Signs and symptoms are typically mild, and affected individuals may be clinically asymptomatic and diagnosed only after biochemical screening.
MONDO:0035328 obsolete rare disorder due to poisoning
MONDO:0035340 obsolete rare disorder with hirschsprung disease as a major feature
MONDO:0035383 FOXG1 syndrome A rare genetic neurological disorder characterized by early onset of microcephaly, severe global developmental delay and cognitive impairment, dyskinesia and hyperkinetic movements, visual impairment, autistic behavior, stereotypies, sleep disturbance, epilepsy, and cerebral malformations (such as corpus callosum hypogenesis, forebrain anomaly, and delayed myelination). Speech is minimal or absent, and ambulation is not attained. Patients with a larger 14q12 microdeletion show a more severe phenotype than those with intragenic alterations, with the addition of facial dysmorphism and agenesis of the corpus callosum.
MONDO:0035400 seronegative autoimmune hepatitis A form of autoimmune hepatitis characterized by the features of classic autoimmune hepatitis (i. e. clinical presentation as acute or chronic cryptogenic hepatitis, interface hepatitis on histological examination, elevated serum aspartate aminotransferase and alanine aminotransferase levels, hypergammaglobulinemia/elevated immunoglobulin G, therapeutic response to corticosteroids) in the absence of serum autoantibodies. Clinical manifestations include fatigue, malaise, arthralgia, jaundice, at later stages also signs of advanced chronic liver disease, such as spider nevi, caput medusae, splenomegaly, ascites, and palmar erythema. Presence of concurrent autoimmune diseases is frequently observed.
MONDO:0035401 isolated anencephaly
MONDO:0035402 isolated exencephaly
MONDO:0035403 serous cystadenoma of childhood
MONDO:0035404 mucinous cystadenoma of childhood
MONDO:0035405 seromucinous cystadenoma of childhood
MONDO:0035406 furuncular myiasis due to Dermatobia hominis
MONDO:0035407 furuncular myiasis due to Cordylobia anthropophaga
MONDO:0035408 furuncular myiasis due to Cordylobia rodhaini
MONDO:0035410 isolated congenital aglossia
MONDO:0035411 isolated congenital hypoglossia
MONDO:0035423 triglyceride deposit cardiomyovasculopathy
MONDO:0035426 obsolete rare disorder potentially indicated for transplant or complication after transplantation
MONDO:0035432 POMGNT2-related limb-girdle muscular dystrophy R24
MONDO:0035433 calpain-3-related limb-girdle muscular dystrophy D4
MONDO:0035437 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome A rare genetic autoinflammatory syndrome with immune deficiency characterized by a combination of autoinflammation, immunodeficiency, and neutrophil dysfunction, as well as mild bleeding diathesis. Patients present recurrent attacks of abdominal pain, high fever, and systemic inflammation lasting four to five days and occurring every few weeks. Attacks may be accompanied by nailbed, tongue, submandibular, and gluteal abscesses, intra-abdominal granulomas, pyoderma gangrenosum, and buccal ulcerations. Frequent episodes of purulent paronychia, superficial skin and mucosal infections, and purulent upper respiratory tract infections have also been reported.
MONDO:0035441 congenital autosomal recessive small-platelet thrombocytopenia A rare isolated constitutional thrombocytopenia characterized by neonatal onset of small-platelet thrombocytopenia with significantly increased bleeding tendency. Bleeding symptoms include petechial rash, mucosal bleeding, and heavy menstrual bleeding. Growth and development are normal, and there is no increased susceptibility to infections.
MONDO:0035444 acute mast cell leukemia A rare systemic mastocytosis characterized by the presence of at least 20% usually immature and atypical mast cells in bone marrow aspirate smears. In classic mast cell leukemia, mast cells account for at least 10% of peripheral white blood cells, although the aleukemic variant with less than 10% mast cells is more common. C-findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption), indicative of organ damage due to mast cell infiltration, are usually present at diagnosis, while skin lesions are absent in most cases. Prognosis is generally poor.
MONDO:0035445 chronic mast cell leukemia A rare form of mast cell leukemia characterized by the presence of at least 20% mast cells in bone marrow aspirate smears but often mature mast cell morphology, low proliferation rate, and absence of organ damage and C findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption). The disease course is less aggressive than in the acute form, although patients may later progress.
MONDO:0035447 liver adenomatosis A rare neoplastic disease characterized by the presence of ten or more hepatocellular adenomas in a background of normal appearing hepatic parenchyma. The majority of reported cases are female. There is no association with steroid use. The condition is considered benign, although the risk of complications (such as malignant transformation or spontaneous rupture with intraperitoneal hemorrhage) is much higher than in isolated hepatic adenoma. Hepatocellular carcinoma develops in less than 10% of cases.
MONDO:0035448 obsolete aprosencephaly/atelencephaly spectrum OBSOLETE. A group of rare central nervous system malformations characterized by varying degrees of absence or dysplasia of the derivatives of the prosencephalon (i. e. telencephalon and diencephalon), with an intact cranial vault. The spectrum comprises atelencephaly, the less severe form, in which only the telencephalon is affected, and aprosencephaly, where the diencephalon is also involved. The malformations may occur in an isolated form or in association with other anomalies. [Orphanet:566847]
MONDO:0035449 atelencephaly
MONDO:0035450 aprosencephaly
MONDO:0035451 obsolete left sided atrial isomerism
MONDO:0035452 mueller-weiss syndrome A rare bone disease characterized by spontaneous adult-onset tarsal navicular osteonecrosis. Patients present with chronic mid- and hindfoot pain, swelling and tenderness over the dorsomedial aspect of the midfoot, flattening of the medial longitudinal arch, and pes planovarus. Radiographic findings include comma-shaped deformity due to collapse of the lateral part of the navicular bone and medial or dorsal protrusion of a portion or the entire bone. The condition may be bilateral or asymmetric and associated with pathological fractures.
MONDO:0035454 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
MONDO:0035459 idiopathic multidrug-resistant nephrotic syndrome
MONDO:0035460 idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy
MONDO:0035461 obsolete systemic disease with glomerulopathy as a major feature
MONDO:0035466 obsolete nephrotic syndrome without extrarenal manifestations
MONDO:0035469 obsolete primary lymphedema without systemic or visceral involvement
MONDO:0035470 obsolete primary lymphedema with systemic or visceral involvement
MONDO:0035471 obsolete disorder with multisystemic involvement and primary lymphedema
MONDO:0035472 GJC2-related late-onset primary lymphedema A rare genetic primary lymphedema characterized by lymphedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association.
MONDO:0035473 warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome A rare primary lymphedema characterized by extensive, multisegmental lymphedema, associated with persistent, widespread infections with various genital high- and low-risk human papillomaviruses, resulting in multifocal anogenital dysplasia. Laboratory examination shows abnormalities in lymphocyte subsets, in particular CD4+ T-cells. Epidermal nevi and capillary malformations have also been reported.
MONDO:0035474 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis A rare genetic primary lymphedema characterized by uniform, widespread lymphedema, often with systemic involvement such as intestinal and pulmonary lymphangiectasia, pleural and pericardial effusions, and chylothorax. There is a high incidence of non-immune hydrops fetalis, which may result in fetal demise or fully resolve after birth. Severe, recurrent facial cellulitis is observed in some patients. Presence of epicanthic folds or micrognathia has occasionally been reported, while intelligence is normal, and seizures are absent.
MONDO:0035475 EPHB4-related lymphatic-related hydrops fetalis A rare primary lymphedema characterized by a highly variable lymphatic phenotype ranging from severe lymphatic-related hydrops fetalis, which may cause perinatal demise or fully resolve to become completely asymptomatic, to a mild presentation in older patients with persistent varicose veins, peripheral edema, and impaired lymph drainage in the lower limbs. Atrial septal defect has been described in association and may be the only anomaly in some patients.
MONDO:0035499 CELSR1-related late-onset primary lymphedema A rare genetic primary lymphedema characterized by unilateral or bilateral lower limb lymphedema of variable severity. The condition shows almost complete penetrance with onset in childhood or adolescence in females, whereas in males it shows incomplete penetrance with later onset of disease. Lymphoscintigraphy in more severely affected individuals reveals lymphatic abnormalities consistent with lymphangiectasia, valve dysfunction, and thoracic duct reflux.
MONDO:0035500 congenital primary lymphedema of Gordon A rare primary lymphedema characterized by bilateral, painless lower limb swelling present at birth. Prominent veins around the ankles and on the dorsa of the feet, dysplastic and upslanting toenails due to edema of the nailbed, and subtle dysmorphic facial features (such as high forehead, hypertelorism, depressed nasal bridge, mild bilateral ear dysplasia, and short neck) have also been described. The degree of lymphatic impairment is milder than in the otherwise clinically similar Milroy disease, as evidenced by slightly less severe lymphedema and significantly more uptake of tracers on lymphoscintigraphy.
MONDO:0035511 ricin poisoning A rare disorder due to poisoning characterized by acute onset of potentially life-threatening illness following ingestion, inhalation, or injection of ricin, a lectin present in the seeds of Ricinus communis, the castor oil plant. Clinical presentation depends on the route of administration, inhalation being the most toxic route, followed by oral ingestion. Presenting signs and symptoms include nausea, vomiting, diarrhea, hematemesis, and melena (upon ingestion), cough, wheezing, dyspnea, sore throat, and congestion (upon inhalation), and erythema, induration, blisters, capillary leak syndrome, and localized necrosis (upon injection). The condition can progress to seizures, shock, organ failure, pulmonary edema, and respiratory failure.
MONDO:0035521 blepharophimosis-ptosis-epicanthus inversus syndrome plus
MONDO:0035524 blepharophimosis-ptosis-epicanthus inversus syndrome type 1
MONDO:0035525 blepharophimosis-ptosis-epicanthus inversus syndrome type 2
MONDO:0035529 infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia A rare genetic respiratory disease characterized by infantile onset of pulmonary alveolar proteinosis with hypogammaglobulinemia. Patients have normal respiratory function at birth, but subsequently develop recurrent, mainly viral, infections and progressive respiratory failure, often leading to death in infancy or early childhood. Additional reported features include leukocytosis and splenomegaly.
MONDO:0035534 DONSON-related microcephaly-short stature-limb abnormalities spectrum A rare autosomal recessive microcephalic primordial dwarfism characterized by congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe.
MONDO:0035540 pheochromocytoma-paraganglioma A rare neuroendocrine tumor arising from chromaffin cells of the adrenal medulla (pheochromocytoma) or from sympathetic and parasympathetic ganglia (paraganglioma). These tumors are most often benign and may produce catecholamines in excess causing hypertension and sometimes severe acute cardiovascular complications.
MONDO:0035541 obsolete split cord malformation type II
MONDO:0035542 obsolete split cord malformation
MONDO:0035547 predisposition to severe viral infection due to IRF7 deficiency
MONDO:0035548 autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency
MONDO:0035551 cathepsin a-related arteriopathy-strokes-leukoencephalopathy A rare genetic cerebral small vessel disease characterized by an adult-onset primary microangiopathy with severe atherosclerosis of arterioles and secondary leukoencephalopathy. Patients may present with migraine, transient ischemic attacks, stroke with central facial palsy, cognitive dysfunction with impaired concentration, dementia, depression, movement disorder, vertigo, dysphagia, dysarthria, sicca syndrome, impaired REM sleep, and therapy-resistant hypertension, among others. Brain MRI typically shows a leukoencephalopathy that is disproportionately severe and extensive compared to the clinical disease.
MONDO:0035554 obsolete complete atrioventricular septal defect without ventricular hypoplasia
MONDO:0035555 obsolete partial atrioventricular septal defect with ventricular hypoplasia
MONDO:0035556 obsolete partial atrioventricular septal defect without ventricular hypoplasia
MONDO:0035557 obsolete intermediate atrioventricular septal defect
MONDO:0035561 sporadic human prion disease
MONDO:0035562 acquired human prion disease
MONDO:0035581 obsolete lethal brain and heart developmental defects OBSOLETE. A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by early intrauterine growth retardation, generalized edema, craniofacial dysmorphism (such as microcephaly, brachycephaly, frontal bossing, hypertelorism, short palpebral fissures, or absent nasal bone), cerebellar hypoplasia, sex reversal in male fetuses, congenital heart defects (including septal and valve defects and cardiomegaly), and late fetal loss. [Orphanet:580933]
MONDO:0035584 punctate inner choroidopathy A rare ophthalmic disorder characterized by typically bilateral, asymmetric, yellowish, punctate chorioretinal lesions of the posterior pole forming a linear branching pattern and progressing to atrophic scars. Subretinal neovascular membranes occur in many cases. Vitritis is always absent. Patients may present with blurred vision, scotoma, floaters, photopsia, and metamorphopsia. Choroidal neovascular membrane formation and subretinal fibrosis are the major causes of visual loss. The condition predominantly occurs in young myopic females.
MONDO:0035586 Cramp-fasciculation syndrome
MONDO:0035592 congenital infiltrating lipomatosis of the face
MONDO:0035605 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality
MONDO:0035614 sporadic fatal insomnia A rare sporadic human prion disease characterized by adult onset of progredient neurodegeneration presenting as a combination of psychiatric, sleep, and oculomotor disturbances, with development of progressive cognitive impairment (the predominantly affected cognitive domains being memory, temporal and/or spatial orientation, language, executive functions, and attention), postural instability, and sometimes additional motor abnormalities and autonomic hyperactivity, in the course of the disease. Bilateral thalamic hypometabolism on FDG-PET imaging and positive prion seeding activity in the cerebrospinal fluid are present in many cases. The disease is fatal within typically two to three years.
MONDO:0035635 short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome
MONDO:0035639 mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)
MONDO:0035642 mixed phenotype acute leukemia with t(v;11q23.3)
MONDO:0035645 inherited gynecological cancer-predisposing syndrome
MONDO:0035646 congenital-onset Steinert myotonic dystrophy
MONDO:0035647 childhood-onset Steinert myotonic dystrophy
MONDO:0035648 juvenile-onset Steinert myotonic dystrophy
MONDO:0035649 adult-onset Steinert myotonic dystrophy
MONDO:0035650 late-onset Steinert myotonic dystrophy
MONDO:0035651 choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
MONDO:0035660 GNAO1-related developmental delay-seizures-movement disorder spectrum
MONDO:0035661 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay or regression, variable congenital heart defects (such as patent ductus arteriosus, atrial or ventricular septal defects, and double outlet right ventricle, among others), and dysmorphic features (including ptosis, epicanthal folds, abnormally set/dysplastic ears, low hairline or excess nuchal skin, wide-spaced/inverted nipples, umbilical hernia or diastasis recti, and digital anomalies). Additional variable manifestations are hyper- or hypotonia, seizures, hearing loss, cortical blindness, and optic atrophy. Brain imaging may show cerebral and cerebellar atrophy and hydrocephalus.
MONDO:0035663 neuromyelitis optica spectrum disorder with anti-AQP4 antibodies
MONDO:0035664 neuromyelitis optica spectrum disorder with anti-MOG antibodies
MONDO:0035665 neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies
MONDO:0035666 acute transverse myelitis with anti-MOG antibodies
MONDO:0035667 isolated optic neuritis without anti-MOG antibodies
MONDO:0035668 isolated optic neuritis with anti-MOG antibodies
MONDO:0035669 acute disseminated encephalomyelitis with anti-MOG antibodies
MONDO:0035670 acute disseminated encephalomyelitis without anti-MOG antibodies
MONDO:0035678 Timothy syndrome type 1
MONDO:0035679 Timothy syndrome type 2
MONDO:0035682 fibrous dysplasia/McCune-Albright syndrome
MONDO:0035683 obsolete adrenal hypoplasia congenita
MONDO:0035684 epidermolysis bullosa simplex without extracutaneous involvement
MONDO:0035685 epidermolysis bullosa simplex with extracutaneous involvement
MONDO:0035689 syndrome of reduced sensitivity to thyroid hormone
MONDO:0035694 combined immunodeficiency due to RELA haploinsufficiency
MONDO:0035696 incomplete septal cirrhosis A histopathological form of portosinusoidal vascular disease characterized by the presence of incomplete, thin, perforated, or blind-ended septa, which intermittently delimit rudimentary nodules, although complete cirrhotic-type regenerative nodules are not seen. Isolated collagen bundles can also be observed within the parenchyma.
MONDO:0035706 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
MONDO:0035707 blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome
MONDO:0035713 FOXG1 syndrome due to intragenic alteration
MONDO:0035734 hereditary angioedema with normal C1inh not related to F12 or PLG variant
MONDO:0035735 acquired hemophilia A An acquired form of hemophilia A, resulting in spontaneous bleeding in individuals with no history of bleeding disorders. It is believed to be caused by spontaneous inhibition of clotting factor VIII by autoantibodies, and is usually associated with other autoimmune conditions.
MONDO:0035736 acquired hemophilia B
MONDO:0035737 acquired factor V deficiency
MONDO:0035738 acquired factor VII deficiency
MONDO:0035740 acquired factor XI deficiency
MONDO:0035742 factor V short isoforms-related bleeding disorder
MONDO:0035743 factor V amsterdam bleeding disorder
MONDO:0035759 factor V atlanta bleeding disorder
MONDO:0035774 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, severe intellectual disability and absence of expressive language. Muscular hypotonia, seizures, autistic behavior and stereotypic movements are common.
MONDO:0035775 CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome
MONDO:0035776 combined deficiency of factor VII and factor X
MONDO:0035780 obsolete non-syndromic anorectal malformation with perineal fistula
MONDO:0035781 obsolete non-syndromic anorectal malformation with rectourethral fistula
MONDO:0035782 non-syndromic anorectal malformation with rectourethral fistula, bulbar type
MONDO:0035783 non-syndromic anorectal malformation with rectourethral fistula, prostatic type
MONDO:0035784 obsolete non-syndromic anorectal malformation with rectovesical fistula
MONDO:0035785 obsolete non-syndromic anorectal malformation with vestibular fistula
MONDO:0035786 obsolete non-syndromic cloacal malformation
MONDO:0035787 obsolete non-syndromic anorectal malformation without fistula
MONDO:0035788 obsolete non-syndromic anorectal malformation with anal stenosis
MONDO:0035789 obsolete non-syndromic anorectal malformation with pouch colon
MONDO:0035790 obsolete non-syndromic anorectal malformation with rectal atresia
MONDO:0035791 obsolete non-syndromic anorectal malformation with rectal stenosis
MONDO:0035792 obsolete non-syndromic anorectal malformation with rectovaginal fistula
MONDO:0035793 obsolete non-syndromic anorectal malformation with h-type fistula
MONDO:0035819 cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
MONDO:0035821 isolated female hypospadias
MONDO:0035823 KLHL7-related Bohring-Opitz-like syndrome
MONDO:0035824 KLHL7-related cold-induced sweating-like syndrome
MONDO:0035826 symptomatic form of x-linked centronuclear myopathy in female carriers
MONDO:0035862 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
MONDO:0035863 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
MONDO:0035879 granuloma faciale
MONDO:0035882 chronic intervillositis of unknown etiology
MONDO:0037716 obsolete rare genetic deafness
MONDO:0037860 obsolete rare systemic or rheumatologic disease
MONDO:0038261 obsolete genetic neurological channelopathy of the central nervous system
MONDO:0038268 autoimmune neurological channelopathy
MONDO:0100459 azoospermia A male infertility disease characterized by the absence of any measurable level of sperm in semen.
MONDO:0700051 liver abscess (disease) An abscess that involves the liver.
MONDO:0700052 intersphincteric abscess An abscess contained between the internal and external anal sphincters.
MONDO:0700054 microcephaly 6 with or without short stature Disorder of fetal brain growth; individuals have small brains and almost always have mental retardation, although rare individuals with mild microcephaly (-3 SD) and normal intelligence have been reported. Clinical features include the features of ‘microcephaly 6, primary, autosomal recessive’ and 'Seckel syndrome', and may include short stature or mild seizures.
MONDO:0700055 KIF1A related neurological disorder KIF1A-associated neurological disorder (KAND) encompasses a group of rare neurodegenerative conditions caused by variants in KIF1A
MONDO:0800025 Teebi hypertelorism syndrome 1 A rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia, such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes.
MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease A rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients.
MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 A rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy.
MONDO:0800028 dyskinesia with orofacial involvement, autosomal dominant A rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness.
MONDO:0800029 interstitial lung disease 2 A nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause.
MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood.
MONDO:0800031 central hypoventilation syndrome, congenital
MONDO:0800032 MELAS syndrome caused by mutation in MTTL1 Any MELAS syndromein which the cause of the disease is a mutation in the MTTL1 gene.
MONDO:0800033 MELAS syndrome caused by mutation in MTTQ Any MELAS syndromein which the cause of the disease is a mutation in the MTTQ gene.
MONDO:0800034 MELAS syndrome caused by mutation in MTTH Any MELAS syndromein which the cause of the disease is a mutation in the MTTH gene.
MONDO:0800035 MELAS syndrome caused by mutation in MTTK Any MELAS syndromein which the cause of the disease is a mutation in the MTTK gene.
MONDO:0800036 MELAS syndrome caused by mutation in MTTC Any MELAS syndromein which the cause of the disease is a mutation in the MTTC gene.
MONDO:0800037 MELAS syndrome caused by mutation in MTTS1 Any MELAS syndromein which the cause of the disease is a mutation in the MTTS1 gene.
MONDO:0800038 MELAS syndrome caused by mutation in MTND1 Any MELAS syndromein which the cause of the disease is a mutation in the MTND1 gene.
MONDO:0800039 MELAS syndrome caused by mutation in MTND5 Any MELAS syndromein which the cause of the disease is a mutation in the MTND5 gene.
MONDO:0800040 MELAS syndrome caused by mutation in MTND6 Any MELAS syndromein which the cause of the disease is a mutation in the MTND6 gene.
MONDO:0800041 MELAS syndrome caused by mutation in MTTS2 Any MELAS syndromein which the cause of the disease is a mutation in the MTTS2 gene.

Changed terms

Changed labels

Mondo ID Label Previous release New release
MONDO:0005721 coxsackievirus infectious disease obsolete coxsackievirus infectious disease coxsackievirus infectious disease
MONDO:0004983 spermatogenic failure azoospermia spermatogenic failure
MONDO:0005493 carbon monoxide-induced delayed encephalopathy delayed encephalopathy after acute carbon monoxide poisoning carbon monoxide-induced delayed encephalopathy
MONDO:0008340 ptosis, hereditary congenital, 1 congenital ptosis ptosis, hereditary congenital, 1
MONDO:0009461 spermatogenic failure 5 male infertility due to large-headed multiflagellar polyploid spermatozoa spermatogenic failure 5
MONDO:0010454 intellectual disability, X-linked 88 intellectual disability, XMEN-linked 88 intellectual disability, X-linked 88
MONDO:0010512 intellectual disability, X-linked, syndromic, Bain type intellectual disability, X-linked, syndromic, bain type intellectual disability, X-linked, syndromic, Bain type
MONDO:0014144 autosomal recessive limb-girdle muscular dystrophy type R18 autosomal recessive limb-girdle muscular dystrophy type 2S autosomal recessive limb-girdle muscular dystrophy type R18
MONDO:0019444 trichinellosis Trichinellosis trichinellosis
MONDO:0019528 inflammatory pseudotumor of the liver IgG4-related hepatopathy inflammatory pseudotumor of the liver
MONDO:0021171 Timothy syndrome, classic type Timothy syndrome type 1 (disorder) Timothy syndrome, classic type
MONDO:0021172 Timothy syndrome, atypical type Timothy syndrome type 2 (disorder) Timothy syndrome, atypical type
MONDO:0022400 retinal ciliopathy due to mutation in the RPGRIP gene retinal ciliopathy due to mutation in the rpgrip gene retinal ciliopathy due to mutation in the RPGRIP gene
MONDO:0022404 retinal ciliopathy due to mutation in Usher gene retinal ciliopathy due to mutation in usher gene retinal ciliopathy due to mutation in Usher gene
MONDO:0022407 retinal ciliopathy due to mutation in Bardet-Biedl gene retinal ciliopathy due to mutation in bardet-biedl gene retinal ciliopathy due to mutation in Bardet-Biedl gene
MONDO:0022557 Behrens Baumann dust syndrome behrens baumann dust syndrome Behrens Baumann dust syndrome
MONDO:0023134 febrile ulceronecrotic Mucha-Habermann disease febrile ulceronecrotic mucha-habermann disease febrile ulceronecrotic Mucha-Habermann disease
MONDO:0024559 aortic aneurysm, familial thoracic 1 AAT1 aortic aneurysm, familial thoracic 1
MONDO:0030423 congenital disorder of glycosylation, type 2v congenital disorder of glycosylation, type 2v congenital disorder of glycosylation, type 2v
MONDO:0030433 Charcot-Marie-Tooth disease, axonal, type 2FF Charcot-Marie-Tooth disease, axonal, type 2FF Charcot-Marie-Tooth disease, axonal, type 2FF
MONDO:0030437 congenital disorder of glycosylation, type IIw congenital disorder of glycosylation, type IIw congenital disorder of glycosylation, type IIw
MONDO:0030438 pontocerebellar hypoplasia, type 16 pontocerebellar hypoplasia, type 16 pontocerebellar hypoplasia, type 16
MONDO:0030458 Charcot-Marie-Tooth disease, axonal, Type 2HH Charcot-Marie-Tooth disease, axonal, Type 2HH Charcot-Marie-Tooth disease, axonal, Type 2HH
MONDO:0030524 mucopolysaccharidosis, type 10 mucopolysaccharidosis, type 10 mucopolysaccharidosis, type 10

Changed definitions

Mondo ID Label Previous release New release
MONDO:0005721 coxsackievirus infectious disease A heterogeneous group of infections produced by coxsackieviruses, including herpangina, aseptic meningitis (meningitis, aseptic), a common-cold-like syndrome, a non-paralytic poliomyelitis-like syndrome, epidemic pleurodynia (pleurodynia, epidemic) and a serious myocarditis.
MONDO:0004983 spermatogenic failure Complete absence of spermatozoa in the semen. A male infertility characterized by dirsuption of the process of sperm development from diploid cells into mature haploid spermatozoa.
MONDO:0005052 irritable bowel syndrome Irritable bowel syndrome (IBS) is a chronic functional condition of the lower gastrointestinal (GI) tract characterised by abdominal pain or discomfort and disordered bowel habit (diarrhoea, constipation, or fluctuation between the two). Irritable bowel syndrome (IBS) is a chronic functional condition of the lower gastrointestinal (GI) tract characterised by abdominal pain or discomfort and disordered bowel habit (diarrhoea, constipation, or fluctuation between the two).
MONDO:0007448 familial dermatographia Familial dermographism is a condition also known as skin writing. When people who have dermatographia lightly scratch their skin, the scratches redden into a raised wheal similar to hives. Signs and symptoms of dermatographia include raised red lines, swelling, inflammation, hive-like welts and itching. Symptoms usually disappear within 30 minutes. The exact cause of this condition is unknown. Treatment mayinvovle use of antihistamines if symptoms do not go away on their own. Familial dermographism is a condition also known as skin writing. When people who have dermatographia lightly scratch their skin, the scratches redden into a raised wheal similar to hives. Signs and symptoms of dermatographia include raised red lines, swelling, inflammation, hive-like welts and itching. Symptoms usually disappear within 30 minutes. The exact cause of this condition is unknown. Treatment may invovle use of antihistamines if symptoms do not go away on their own.
MONDO:0100244 paroxysmal nocturnal hemoglobinuria An instance of paroxysmal nocturnal hemoglobinuria that is inherited or acquired. Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events.
MONDO:0015947 inherited ichthyosis Mendelian disorders of cornification affecting all or most of integument characterized by hyperkeratosis and/or scaling, caused by an inherited modification of the individual's genome. Mendelian disorders of cornification affecting all or most of integument characterized by hyperkeratosis and/or scaling, caused by an inherited modification of the individual's genome.
MONDO:0011078 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis A rare, congenital malformation syndrome characterized by the association of anterior ocular chamber cleavage disorder with developmental delay, short stature and congenital hypothyroidism. Additional manifestations include cerebellar hypoplasia, tracheal stenosis, narrow external auditory meatus, and hip dislocation. There have been no further description in the literature since 1995.
MONDO:0014144 autosomal recessive limb-girdle muscular dystrophy type R18 Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures. A form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.
MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by severe congenital contractures of the limbs and face, hypotonia, neonatal respiratory distress, and global developmental delay. Dysmorphic facial features include downslanting palpebral fissures, broad nasal bridge, large nares, long philtrum, and deep nasolabial folds, among others. Limb deformities (camptodactyly, clubfoot), short neck, scoliosis, as well as seizures have also been reported. Brain MRI may show cerebral and cerebellar atrophy in some cases.
MONDO:0016086 osteochondritis of tarsal/metatarsal bone Osteochondritis of tarsal/metatarsal bone is a very rare form of osteochondritis dissecans characterized by generally self-limiting bone lesions that may cause pain and swelling often localized at the tarsal navicular bone A rare bone disease characterized by avascular necrosis of the navicular bone in children. Patients present with sudden unexplained foot pain, inability to bear weight, and limping. Radiographic features include flattening, fragmentation, and patchy sclerosis of the navicular bone. Soft tissue swelling may be associated. The condition is most commonly unilateral and self-limiting. Boys are more often affected than girls.
MONDO:0018919 McCune-Albright syndrome McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), cafC)-au-lait skin spots, and precocious puberty (PP). McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), cafe-au-lait skin spots, and precocious puberty (PP).
MONDO:0020368 Axenfeld anomaly Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced SchwalbeBs line and iris bands extending into the cornea. In contrast, RiegerBs anomaly includes characteristic iris and pupil anomalies. Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced Schwalbe's line and iris bands extending into the cornea. In contrast, Rieger's anomaly includes characteristic iris and pupil anomalies.
MONDO:0060490 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies A rare genetic syndromic intellectual disability characterized by infantile onset of global developmental delay and profound intellectual disability in association with a heterogeneous spectrum of manifestations, such as features of lower motor neuron disease, hypotonia, spasticity, contractures, seizures, respiratory insufficiency, and optic atrophy, among others. Dysmorphic craniofacial features include microcephaly, tall forehead, bitemporal narrowing, flat nasal bridge, low-set ears, and high-arched palate. Brain imaging may show cerebral and cerebellar atrophy, delayed myelination, and thin corpus callosum.

Obsolete terms

Mondo ID Label
MONDO:0005721 coxsackievirus infectious disease
MONDO:0004553 obsolete extrinsic allergic alveolitis
MONDO:0004771 obsolete Fuchs' heterochromic uveitis
MONDO:0005992 obsolete trichinosis
MONDO:0006147 obsolete chronic eosinophilic leukemia, not otherwise specified
MONDO:0006584 obsolete neonatal jaundice
MONDO:0006600 obsolete pigmentation disease
MONDO:0007061 obsolete acylase, cobalt-activated
MONDO:0020218 obsolete goniodysgenesis
MONDO:0007780 obsolete hypertelorism, Teebi type
MONDO:0008042 obsolete myoclonus and ataxia
MONDO:0008345 obsolete idiopathic pulmonary fibrosis
MONDO:0019341 obsolete tuberous sclerosis complex
MONDO:0008852 obsolete congenital central hypoventilation syndrome
MONDO:0008940 obsolete endosteal sclerosis-cerebellar hypoplasia syndrome
MONDO:0008942 obsolete cerebelloparenchymal disorder II
MONDO:0009096 obsolete hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
MONDO:0009316 obsolete hair defect-photosensitivity-intellectual disability syndrome
MONDO:0010113 obsolete thalidomide susceptibility
MONDO:0010783 obsolete Alzheimer disease, susceptibility to, mitochondrial
MONDO:0011111 obsolete horns in sheep
MONDO:0011319 obsolete activator of liver function 1
MONDO:0020220 obsolete corneoiridogoniodysgenesis
MONDO:0011707 obsolete familial dyskinesia and facial myokymia
MONDO:0013733 obsolete accelerated tumor formation, susceptibility to
MONDO:0014616 obsolete Skint1-like pseudogene
MONDO:0015551 obsolete basal epidermolysis bullosa simplex
MONDO:0016036 obsolete Ledderhose disease
MONDO:0016626 obsolete hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency
MONDO:0019511 obsolete autosomal dominant medullary cystic kidney disease with hyperuricemia
MONDO:0019774 obsolete Holmes-Gang syndrome
MONDO:0020312 obsolete atypical chronic myeloid leukemia
MONDO:0020358 obsolete coloboma of optic disc
MONDO:0020670 obsolete antithrombin deficiency type 2
MONDO:0021191 obsolete malignant ependymoma
MONDO:0022556 obsolete oculo-cerebral dysplasia
MONDO:0022916 obsolete cystic hygroma lethal cleft palate
MONDO:0022926 obsolete daentl towsend Siegel syndrome
MONDO:0023000 obsolete dobrow syndrome
MONDO:0032647 obsolete global developmental delay, lung cysts, overgrowth, and wilms tumor
MONDO:0042908 obsolete Schaap-Taylor-Baraitser syndrome
MONDO:0044354 obsolete Rosai-Dorfman disease
MONDO:0044684 obsolete tuberculous meningitis
MONDO:0056821 obsolete bronchiolitis obliterans organizing pneumonia
MONDO:0100243 obsolete inherited paroxysmal nocturnal hemoglobinuria
MONDO:0100245 obsolete acquired paroxysmal nocturnal hemoglobinuria
MONDO:0100461 obsolete gastrointestinal defects and immunodeficiency syndrome

New obsoletion candidates

Mondo ID Label
MONDO:0000238 pestis minor
MONDO:0021145 disorder of genitourinary system
MONDO:0001306 recurrent corneal erosion
MONDO:0001321 scleral staphyloma
MONDO:0001424 sarcoid meningitis
MONDO:0001578 hernia of ovary and fallopian tube
MONDO:0001726 childhood disintegrative disease
MONDO:0002336 inflammatory and toxic neuropathy
MONDO:0001946 hyperestrogenism
MONDO:0005049 intracranial hemorrhage
MONDO:0005862 multiple chemical sensitivity
MONDO:0025370 urogenital neoplasm
MONDO:0006089 appendix goblet cell carcinoid
MONDO:0006185 ductal or ductular proliferation
MONDO:0006560 hypohidrosis
MONDO:0006832 limited scleroderma
MONDO:0020236 lens position anomaly
MONDO:0007578 esterase B
MONDO:0007579 esterase C
MONDO:0007580 esterase ES-2, regulator for
MONDO:0007583 exostoses of heel
MONDO:0007816 immune suppression
MONDO:0010034 anosmia for butyl mercaptan
MONDO:0010143 lethal restrictive dermopathy
MONDO:0010594 inherited genitourinary tract anomalies
MONDO:0010682 myoclonic epilepsy, progressive, X-linked
MONDO:0011108 Stüve-Wiedemann syndrome
MONDO:0011878 Worth syndrome
MONDO:0014109 NGLY1-deficiency
MONDO:0014761 hereditary pediatric Behçet-like disease
MONDO:0017606 facial nerve palsy due to herpes zoster infection
MONDO:0021849 alopecia macular degeneration growth retardation syndrome
MONDO:0023235 giant congenital nevus
MONDO:0024686 tenosynovial giant cell tumor, diffuse type
MONDO:0060712 developmental delay, intellectual disability, obesity, and dysmorphic features

Terms that were previously candidate for obsoletion and are now not anymore

No changes.

14cbc59
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Overview:

  • Number of new terms: 13
  • Number of changed labels: 8
  • Number of changed definitions: 4
  • Number obsoleted terms: 73
  • Number of new obsoletion candidates: 16
  • Number of terms who were previously candidate for obsoletion and are now not anymore: 1

New terms

Mondo ID Label Definition
MONDO:0100487 TPM4-related platelet disorder A platelet disorder in which the cause of the disease is a variant in the TPM4 gene.
MONDO:0100488 CDH1-related diffuse gastric and lobular breast cancer Germline pathogenic or likely pathogenic variants in the CDH1 gene predispose to hereditary diffuse gastric cancer, a cancer susceptibility syndrome inherited in an autosomal dominant pattern, initially characterized by the increased risk for diffuse gastric cancer (DGC) but subsequently well documented to be associated with lobular breast cancer (LBC) in women.
MONDO:0100489 Graves disease, susceptibility to, 1
MONDO:0100490 breasts and/or nipples, aplasia or hypoplasia of, 1
MONDO:0100491 generalized pustular psoriasis A rare and extreme form of psoriasis characterized by the appearance of sterile pustules which can take many patterns. All the main pathological features of the disease are accentuated. Generalized pustular psoriasis is clinically heterogeneous in its age at onset, precipitants, severity, and natural history. Many overlapping clinical entities are recognized. There is a relationship between these entities and plaque psoriasis, as some individuals may have episodes of plaque psoriasis preceding or following the generalized pustular psoriasis, but in others generalized pustular psoriasis occurs as the sole phenotype without plaque psoriasis at any time.
MONDO:0700043 syndrome caused by partial chromosomal duplication of the short arm of chromosome 9
MONDO:8000023 type 3 autoimmune lymphoproliferative syndrome A rare, primary immunodeficiency. It is caused by a currently undetermined defect in the Fas-induced apoptosis pathway. No mutations in Fas, FASLG or CASP10 are detectable. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma.
MONDO:8000024 autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD Any autoimmune lymphoproliferative syndrome in which the cause of the disease is a mutation in the PRKCD gene.
MONDO:8000030 obsolete morphological anomaly
MONDO:8000031 obsolete subtype of a disorder
MONDO:8000032 obsolete malformation syndrome
MONDO:8000033 obsolete group of disorders
MONDO:8000034 obsolete disorder

Changed terms

Changed labels

Mondo ID Label Previous release New release
MONDO:0003778 inborn errors of immunity primary immunodeficiency disease inborn errors of immunity
MONDO:0008791 anencephaly 1 isolated anencephaly/exencephaly anencephaly 1
MONDO:0013612 geleophysic dysplasia 2 Geleophysic dysplasia 2 geleophysic dysplasia 2
MONDO:0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome optic atrophy-intellectual disability syndrome Bosch-Boonstra-Schaaf optic atrophy syndrome
MONDO:0018983 Tolosa-Hunt syndrome tolosa-Hunt syndrome Tolosa-Hunt syndrome
MONDO:0020745 ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome autosomal dominant cardiac arrhythmia (Kuhn) ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
MONDO:0043195 Rubinstein Taybi like syndrome rubinstein taybi like syndrome Rubinstein Taybi like syndrome
MONDO:0700130 partial trisomy 21 partial Trisomy 21 partial trisomy 21

Changed definitions

Mondo ID Label Previous release New release
MONDO:0006086 angiomyxoma A benign soft tissue neoplasm characterized by the presence of neoplastic spindle and stellate cells in a myxoid stroma. A benign soft tissue neoplasm characterized by the presence of neoplastic spindle and stellate cells, and vascular proliferation in a myxoid stroma.
MONDO:0700085 pentasomy A chromosomal anomaly consisting of the presence of three chromosomes of the same type in addition to the normal diploid number. A chromosomal disorder consisting of the presence of three chromosomes of the same type in addition to the normal diploid number.
MONDO:0017388 celiac trunk compression syndrome A rare disease caused by compression of the celiac axis by an abnormally shaped arcuate ligament (the part of the diaphragm in which both pillars join in the midline around the aorta). Patients have recurrent abdominal pain, anorexia and weight loss. The pain is epigastric, and diarrhea or constipation may be present as well. Onset of pain will usually, although not always, be after food intake, and may be associated with nausea and emesis. Other symptoms may include lassitude, exercise intolerance and vomiting. Occasionally, a patient may show an abdominal murmur upon auscultation.
MONDO:0030502 tetrasomy A chromosomal anomaly consisting of the presence of two chromosomes of the same type in addition to the normal diploid number. A chromosomal disorder consisting of the presence of two chromosomes of the same type in addition to the normal diploid number.

Obsolete terms

Mondo ID Label
MONDO:0000651 obsolete thoracic disorder
MONDO:0006588 obsolete nonepidermolytic palmoplantar keratoderma
MONDO:0007139 obsolete Antipyrine metabolism
MONDO:0007141 obsolete antiviral state repressor, regulator of
MONDO:0007317 obsolete chlorpropamide-alcohol flushing
MONDO:0007331 obsolete cleft chin
MONDO:0007532 obsolete Electroencephalographic peculiarity: occipital slow beta waves
MONDO:0007591 obsolete facial hypertrichosis
MONDO:0007622 obsolete flood factor deficiency
MONDO:0007645 obsolete gastric sneezing
MONDO:0007692 obsolete hairy ears
MONDO:0007822 obsolete incisors, long upper central
MONDO:0007823 obsolete insulin receptors, familial increase 1N
MONDO:0008068 obsolete navicular bone, accessory
MONDO:0008110 obsolete ocular dominance
MONDO:0008326 obsolete pseudocholinesterase, increase in plasma level of
MONDO:0008351 obsolete pupil, egg-shaped
MONDO:0008405 obsolete scapula, contour of vertebral border of
MONDO:0008432 obsolete ketone compounds, ability to smell
MONDO:0008548 obsolete theophylline Biotransformation
MONDO:0008616 obsolete twinning due to superfetation
MONDO:0008625 obsolete urate-binding globulin, decrease 1N
MONDO:0008677 obsolete widow's peak
MONDO:0009125 obsolete dopamine beta-hydroxylase, plasma, thermolability of
MONDO:0009250 obsolete fructose utilization
MONDO:0009553 obsolete Plasmodium falciparum blood infection level
MONDO:0009829 obsolete pallidal degeneration, progressive, with retinitis pigmentosa
MONDO:0009930 obsolete pulmonary arteriovenous malformation
MONDO:0010705 obsolete ouabain resistance
MONDO:0010994 obsolete micromelic dwarfism, Fryns type
MONDO:0011554 obsolete deafness, nonsyndromic, modifier 1
MONDO:0011692 obsolete basal ganglia calcification, idiopathic, 2
MONDO:0013538 obsolete alpha-2-macroglobulin deficiency
MONDO:0013586 obsolete Chitotriosidase deficiency
MONDO:0013799 obsolete efavirenz, poor metabolism of
MONDO:0014053 obsolete stomatin-like protein-2, hyperphosphorylation of
MONDO:0014253 obsolete autoimmune lymphoproliferative syndrome type 3
MONDO:0014826 obsolete nucleoside diphosphate-linked moiety X Motif 15 deficiency
MONDO:0015153 obsolete autosomal monosomy
MONDO:0016946 obsolete partial trisomy of the short arm of chromosome 9
MONDO:0016962 obsolete partial duplication of the long arm of chromosome 11
MONDO:0016963 obsolete partial duplication of the long arm of chromosome 13
MONDO:0016998 obsolete complex chromosomal rearrangement
MONDO:0016999 obsolete X chromosome number anomaly
MONDO:0017002 obsolete polysomy of X chromosome
MONDO:0017005 obsolete Y chromosome number anomaly
MONDO:0017006 obsolete X and Y chromosomal anomaly
MONDO:0017011 obsolete uniparental disomy of chromosome X
MONDO:0017412 obsolete 2q31.1 microduplication syndrome
MONDO:0018186 obsolete ring chromosome
MONDO:0019683 obsolete syndactyly type 2
MONDO:0020050 obsolete autosomal trisomy
MONDO:0020053 obsolete total autosomal monosomy
MONDO:0020054 obsolete partial autosomal monosomy
MONDO:0020055 obsolete autosomal uniparental disomy
MONDO:0020056 obsolete uniparental disomy of maternal origin
MONDO:0020057 obsolete uniparental disomy of paternal origin
MONDO:0020059 obsolete gonosome number anomaly
MONDO:0020060 obsolete gonosome structural anomaly
MONDO:0020061 obsolete chromosome Y structural anomaly
MONDO:0020062 obsolete chromosome X structural anomaly
MONDO:0020734 obsolete erythrocyte AMP deaminase deficiency
MONDO:0021059 obsolete head or neck disorder/disorder
MONDO:0022109 obsolete catatrichy
MONDO:0022794 obsolete chromosome 8 deletion
MONDO:0026768 obsolete warfarin sensitivity, X-linked
MONDO:0030032 obsolete chromosome 17q11.2 duplication syndrome, 1.4-mb
MONDO:0033552 obsolete blood group, lewis system
MONDO:0044965 obsolete abdominal and pelvic region disorder
MONDO:0044967 obsolete limb disorder
MONDO:0044978 obsolete disease of cell nucleus
MONDO:0044988 obsolete hip region disorder
MONDO:0060593 obsolete actn3 deficiency

New obsoletion candidates

Mondo ID Label
MONDO:0020591 disorder of peritoneum
MONDO:0003804 blood protein disease
MONDO:0005042 head disorder
MONDO:0044990 hand disorder
MONDO:0044989 foot disorder
MONDO:0043707 mediastinal disorder
MONDO:0004955 metabolic syndrome
MONDO:0015879 non-syndromic diaphragmatic or thoracic malformation
MONDO:0015880 syndromic diaphragmatic or thoracic malformation
MONDO:0021016 channelopathy
MONDO:0019664 short rib-polydactyly syndrome, Verma-Naumoff type
MONDO:0014129 autosomal recessive limb-girdle muscular dystrophy type 2R
MONDO:0020051 total autosomal trisomy
MONDO:0020052 partial autosomal trisomy/tetrasomy
MONDO:0018138 ocular albinism with congenital sensorineural hearing loss
MONDO:0020595 disorder of retroperitoneum

Terms that were previously candidate for obsoletion and are now not anymore

Mondo ID Label
MONDO:0008791 anencephaly 1
24b8052
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Overview:

  • Number of new terms: 81
  • Number of changed labels: 23
  • Number of changed definitions: 28
  • Number obsoleted terms: 235
  • Number of new obsoletion candidates: 47
  • Number of terms who were previously candidate for obsoletion and are now not anymore: 0

New terms

Mondo ID Label Definition
MONDO:0030374 WHIM syndrome 2
MONDO:0030375 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2
MONDO:0030376 Martsolf syndrome 2
MONDO:0030378 combined oxidative phosphorylation deficiency 53
MONDO:0030397 portal hypertension, noncirrhotic, 2
MONDO:0030399 visceral neuropathy, familial, 2, autosomal recessive
MONDO:0030423 congenital disorder of glycosylation, type 2v
MONDO:0030428 immunodeficiency 85 and autoimmunity
MONDO:0030430 spermatogenic failure 56
MONDO:0030433 Charcot-Marie-Tooth disease, axonal, type 2FF
MONDO:0030434 epilepsy, idiopathic generalized, susceptibility to, 18
MONDO:0030436 anemia, sideroblastic, 5
MONDO:0030437 congenital disorder of glycosylation, type IIw
MONDO:0030438 pontocerebellar hypoplasia, type 16
MONDO:0030439 spermatogenic failure 57
MONDO:0030440 cone-rod dystrophy 22
MONDO:0030448 immunodeficiency 86
MONDO:0030449 deafness, autosomal recessive 118, with cochlear aplasia
MONDO:0030453 developmental and epileptic encephalopathy 97
MONDO:0030454 Joubert syndrome 39
MONDO:0030455 dystonia 31
MONDO:0030456 muscular dystrophy, limb-girdle, autosomal recessive 27
MONDO:0030457 immunodeficiency 87 and autoimmunity
MONDO:0030458 Charcot-Marie-Tooth disease, axonal, Type 2HH
MONDO:0030462 Joubert syndrome 40
MONDO:0030463 spermatogenic failure 58
MONDO:0030465 cataract 49
MONDO:0030471 Galloway-Mowat syndrome 9
MONDO:0030472 developmental and epileptic encephalopathy 98
MONDO:0030473 developmental and epileptic encephalopathy 99
MONDO:0030474 heterotaxy, visceral, 10, autosomal, with male infertility
MONDO:0030475 heterotaxy, visceral, 11, autosomal, with male infertility
MONDO:0030476 Galloway-Mowat syndrome 10
MONDO:0030480 hearing loss, autosomal recessive 119
MONDO:0030482 spastic paraplegia 84, autosomal recessive
MONDO:0030483 immunodeficiency 88
MONDO:0030484 immunodeficiency 89 and autoimmunity
MONDO:0030486 dystonia 32
MONDO:0030487 spondylometaphyseal dysplasia, pagnamenta type
MONDO:0030489 epidermolysis bullosa simplex 2A, generalized severe
MONDO:0030490 oocyte maturation defect 11
MONDO:0030491 immunodeficiency 91 and hyperinflammation
MONDO:0030492 spermatogenic failure 59
MONDO:0030493 spermatogenic failure 60
MONDO:0030498 immunodeficiency 92
MONDO:0030500 Loeys-Dietz syndrome 6
MONDO:0030503 cholestasis, progressive familial intrahepatic, 7, with or without hearing loss
MONDO:0030505 cholestasis, progressive familial intrahepatic, 8
MONDO:0030506 ovarian dysgenesis 9
MONDO:0030507 spermatogenic failure 61
MONDO:0030508 spermatogenic failure 62
MONDO:0030512 spastic paraplegia 85, autosomal recessive
MONDO:0030513 dystonia 33
MONDO:0030514 leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy
MONDO:0030515 spermatogenic failure 63
MONDO:0030517 trichothiodystrophy 8, nonphotosensitive
MONDO:0030518 trichothiodystrophy 9, nonphotosensitive
MONDO:0030519 agammaglobulinemia 9, autosomal recessive
MONDO:0030522 spermatogenic failure 64
MONDO:0030523 oocyte maturation defect 12
MONDO:0030524 mucopolysaccharidosis, type 10
MONDO:0030525 epidermolysis bullosa simplex 2B, generalized intermediate
MONDO:0030527 epidermolysis bullosa simplex 2C, localized
MONDO:0030528 immunodeficiency 93 and hypertrophic cardiomyopathy
MONDO:0030529 agammaglobulinemia 10, autosomal dominant
MONDO:0030531 spermatogenic failure 65
MONDO:0030533 intellectual developmental disorder, autosomal recessive 73
MONDO:0030534 hypogonadotropic hypogonadism 26 with or without anosmia
MONDO:0030535 epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive
MONDO:0030538 dystonia 34, myoclonic
MONDO:0030543 combined oxidative phosphorylation deficiency 54
MONDO:0030553 acromesomelic dysplasia 4
MONDO:0030606 Bryant-Li-Bhoj neurodevelopmental syndrome 1
MONDO:0030607 Bryant-Li-Bhoj neurodevelopmental syndrome 2
MONDO:0031200 Bryant-Li-Bhoj neurodevelopmental syndrome
MONDO:0100485 KCNH1 associated disorder Any neurodevelopmental disorder in which the cause of the disease is a mutation in the KCNH1 gene. Variants in KCNH1 cause significant neurodevelopmental disabilities that lie along a phenotypic spectrum ranging from non-syndromic to syndromic. The most common phenotypes associated with variants in KCNH1 include intellectual disability, seizures, hypotonia, absence or hypoplasia of nails, and gingival enlargement. Hypoplastic terminal phalanges of fingers and toes, proximal placement and long thumb, and long toes present less frequently.
MONDO:0100486 adult acne Acne that occurs in an adult.
MONDO:0700038 TDP-43 proteinopathy Disease characterized by the presence of abnormally phosphorylated, ubiquitinated, and cleaved DNA-binding protein TDP-43 in affected brain and spinal cord. Inclusions of the pathologic protein in neurons and glia, without the presence of AMYLOID, is the major feature of these conditions, thus making these proteinopathies distinct from most other neurogenerative disorders in which protein misfolding leads to brain amyloidosis. Both frontotemporal lobar degeneration and AMYOTROPHIC LATERAL SCLEROSIS exhibit this common method of pathogenesis and thus they may represent two extremes of a continuous clinicopathological spectrum of one disease.
MONDO:0700039 bladder exstrophy-epispadias-cloacal extrophy complex An anterior midline defect with variable expression involving the infraumbilical abdominal wall including the pelvis, urinary tract, and external genitalia.
MONDO:0700040 neonatal jaundice due to ABO incompatibility Jaundice that appears during the neonatal period due to high levels of unconjugated bilirubin that are a result of maternal-fetal ABO incompatibility.
MONDO:0700041 neuroblastoma, susceptibility to, 2

Changed terms

Changed labels

Mondo ID Label Previous release New release
MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency adenosine deaminase deficiency severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
MONDO:0007219 Osebold-Remondini syndrome brachydactyly type A6 Osebold-Remondini syndrome
MONDO:0007550 epidermolysis bullosa simplex 1A, generalized severe epidermolysis bullosa simplex Dowling-Meara type epidermolysis bullosa simplex 1A, generalized severe
MONDO:0007551 epidermolysis bullosa simplex 1C, localized localized epidermolysis bullosa simplex epidermolysis bullosa simplex 1C, localized
MONDO:0007554 epidermolysis bullosa simplex 1B, generalized intermediate generalized epidermolysis bullosa simplex, non-Dowling-Meara type epidermolysis bullosa simplex 1B, generalized intermediate
MONDO:0007555 pidermolysis bullosa simplex 5A, Ogna type epidermolysis bullosa simplex Ogna type pidermolysis bullosa simplex 5A, Ogna type
MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation epidermolysis bullosa simplex with mottled pigmentation epidermolysis bullosa simplex 2F, with mottled pigmentation
MONDO:0008703 acromesomelic dysplasia 2A acromesomelic dysplasia, Grebe type acromesomelic dysplasia 2A
MONDO:0008717 acromesomelic dysplasia 2C, Hunter-Thompson type acromesomelic dysplasia, Hunter-Thompson type acromesomelic dysplasia 2C, Hunter-Thompson type
MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy epidermolysis bullosa simplex with muscular dystrophy epidermolysis bullosa simplex 5B, with muscular dystrophy
MONDO:0009231 acromesomelic dysplasia 2B fibular hypoplasia and complex brachydactyly acromesomelic dysplasia 2B
MONDO:0009741 neuroblastoma, susceptibility to, 1 neuroblastoma, susceptibility to neuroblastoma, susceptibility to, 1
MONDO:0017919 exstrophy-epispadias complex bladder exstrophy-epispadias-cloacal exstrophy complex exstrophy-epispadias complex
MONDO:0016826 methylmalonic aciduria and homocystinuria methylmalonic acidemia with homocystinuria methylmalonic aciduria and homocystinuria
MONDO:0010976 epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive KRT14-related epidermolysis bullosa simplex epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
MONDO:0011275 acromesomelic dysplasia 1, Maroteaux type acromesomelic dysplasia, Maroteaux type acromesomelic dysplasia 1, Maroteaux type
MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema epidermolysis bullosa simplex with circinate migratory erythema epidermolysis bullosa simplex 2E, with migratory circinate erythema
MONDO:0012274 acromesomelic dysplasia 3 acromesomelic dysplasia, Demirhan type acromesomelic dysplasia 3
MONDO:0012807 epidermolysis bullosa simplex 5C, with pyloric atresia epidermolysis bullosa simplex with pyloric atresia epidermolysis bullosa simplex 5C, with pyloric atresia
MONDO:0013144 hereditary antithrombin deficiency antithrombin III deficiency hereditary antithrombin deficiency
MONDO:0014014 epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive epidermolysis bullosa simplex due to exophilin 5 deficiency epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive
MONDO:0014180 epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency epidermolysis bullosa simplex due to BP230 deficiency epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
MONDO:0015006 epidermolysis bullosa simplex 6, generalized, with scarring and hair loss generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss epidermolysis bullosa simplex 6, generalized, with scarring and hair loss

Changed definitions

Mondo ID Label Previous release New release
MONDO:0015140 early-onset autosomal dominant Alzheimer disease Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old. A progressive dementia with reduction of cognitive functions. It presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old.
MONDO:0007219 Osebold-Remondini syndrome Brachydactyly A6 (BDA6) is characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant. A brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant.
MONDO:0019696 acromesomelic dysplasia Acromesomelic dysplasia describes a group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type A group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type
MONDO:0007550 epidermolysis bullosa simplex 1A, generalized severe Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration. A basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration.
MONDO:0007551 epidermolysis bullosa simplex 1C, localized Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather. A basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.
MONDO:0007555 pidermolysis bullosa simplex 5A, Ogna type Epidermolysis bullosa simplex, Ogna type (EBS-O) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by sometimes widespread, primarily acral blistering. A basal subtype of epidermolysis bullosa simplex (EBS) characterized by sometimes widespread, primarily acral blistering.
MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering with mottled or reticulate brown pigmentation. A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering with mottled or reticulate brown pigmentation.
MONDO:0008703 acromesomelic dysplasia 2A Acromesomelic dysplasia, Grebe type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal. An autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal.
MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II 'Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.' A form of microcephalic primordial dwarfism (MPD) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.
MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing syndrome (CS) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS. A rare type of Cushing syndrome (CS) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS.
MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy. A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy.
MONDO:0016826 methylmalonic aciduria and homocystinuria Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ). An inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ).
MONDO:0010490 SSR4-CDG (Xq28). A form of congenital disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene SSR4(Xq28).
MONDO:0016297 prelingual non-syndromic genetic hearing loss Prelingual non-syndromic genetic deafness is a rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by bilateral, severe to profound hearing loss (mean sensorineural hearing impairment of 60 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs before the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. It is usually nonprogressive and impedes oral language acquisition. A rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by bilateral, severe to profound hearing loss (mean sensorineural hearing impairment of 60 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs before the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. It is usually nonprogressive and impedes oral language acquisition.
MONDO:0010881 mesomelia-synostoses syndrome Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies. A syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies.
MONDO:0010976 epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive KRT14-related epidermolysis bullosa simplex (EBS-AR KRT14) is a basal subtype of epidermolysis bullosa simplex EBS characterized by generalized or, less frequently, localized acral blistering. A basal subtype of epidermolysis bullosa simplex EBS characterized by generalized or, less frequently, localized acral blistering.
MONDO:0011847 migraine without aura, susceptibility to, 4 A migraine disorder characterized by episodes that occur in the absence of preceding focal neurological symptoms. An inherited susceptibility or predisposition to developing migraines without aura.
MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema Epidermolysis bullosa simplex with circinate migratory erythema (EBS-migr) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. A basal subtype of epidermolysis bullosa simplex (EBS) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema.
MONDO:0012735 Temple-Baraitser syndrome Temple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients. A rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.
MONDO:0012807 epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia. A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia.
MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome A rare, genetic, developmental defect during embryogenesis syndrome characterized by total or partial colonic aganglionosis associated with peripheral, usually multifocal, neuroblastic tumors (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction, is occasionally associated.
MONDO:0013144 hereditary antithrombin deficiency A rare disorder characterized by the presence of low levels of antithrombin III which prohibits the formation of blood clots. It may be inherited, usually in an autosomal dominant pattern, or acquired. It may lead to venous thrombosis and pulmonary embolism. A rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins).
MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb 17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas. A rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas.
MONDO:0017178 osteochondritis dissecans A rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence. A rare bone disease characterized by an acquired idiopathic necrotic lesion of subchondral bone with the formation of a sequestrum, which may detach to form loose bodies in joints. OCD mainly affects the knee, ankle and elbow joints and can lead to pain, functional limitations and secondary osteoarthritis.
MONDO:0017712 combined pancreatic lipase-colipase deficiency \Combined pancreatic lipase-colipase deficiency is a disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990." A disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990.
MONDO:0019167 immunoglobulin a vasculitis SchC6nlein-Henoch purpura (SHP) is a systemic IgA vasculitis that affects small vessels. It is characterized by skin purpura, arthritis, and abdominal and/or renal involvement. A systemic IgA vasculitis that affects small vessels. It is characterized by skin purpura, arthritis, and abdominal and/or renal involvement.
MONDO:0019984 renal tubular dysgenesis due to twin-twin transfusion 'Renal tubular dysgenesis due to twin-twin transfusion syndrome (TTTS) is an acquired form of renal tubular dysgenesis that develops in donor fetuses due to the uneven shunting of growth factor and nutrients to the kidney of the recipient and is characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects).' An acquired form of renal tubular dysgenesis that develops in donor fetuses due to the uneven shunting of growth factor and nutrients to the kidney of the recipient and is characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects).
MONDO:0020050 autosomal trisomy A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number.

Obsolete terms

Mondo ID Label
MONDO:0019708 obsolete primary bone dysplasia with disorganized development of skeletal components
MONDO:0003127 obsolete embryoma
MONDO:0006251 obsolete inclusion body fibromatosis
MONDO:0018627 obsolete ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor
MONDO:0006785 obsolete Henoch-Schoenlein purpura
MONDO:0015501 obsolete syndrome or malformation associated with head and neck malformations
MONDO:0018232 obsolete primary bone dysplasia with micromelia
MONDO:0016436 obsolete acquired dermis elastic tissue disorder with increased elastic tissue
MONDO:0019700 obsolete primary bone dysplasia with multiple joint dislocations
MONDO:0015657 obsolete inflammatory and autoimmune disease with epilepsy
MONDO:0017370 obsolete autoinflammatory syndrome with skin involvement
MONDO:0019703 obsolete primary bone dysplasia with increased bone density
MONDO:0020226 obsolete chromosomal anomaly with cataract
MONDO:0019704 obsolete primary bone dysplasia with decreased bone density
MONDO:0018231 obsolete primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
MONDO:0019305 obsolete immune deficiency with skin involvement
MONDO:0017311 obsolete rare disease with thoracic aortic aneurysm and aortic dissection
MONDO:0018790 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy
MONDO:0015218 obsolete syndromic developmental defect of the eye
MONDO:0015220 obsolete syndrome with a central nervous system malformation as major feature
MONDO:0019827 obsolete disease associated with non-acquired combined pituitary hormone deficiency
MONDO:0015651 obsolete neurocutaneous syndrome with epilepsy
MONDO:0016337 obsolete syndrome associated with dilated cardiomyopathy
MONDO:0017118 obsolete syndrome with a cerebellar malformation as major feature
MONDO:0017035 obsolete secondary interstitial lung disease in childhood and adulthood associated with a systemic disease
MONDO:0015329 obsolete malformation syndrome with short stature
MONDO:0019705 obsolete primary bone dysplasia with defective bone mineralization
MONDO:0015945 obsolete polymalformative genetic syndrome with increased risk of developing cancer
MONDO:0015336 obsolete malformation syndrome with odontal and/or periodontal component
MONDO:0017272 obsolete autosomal ichthyosis syndrome with prominent neurologics signs
MONDO:0020228 obsolete cataract associated with a metabolic disease
MONDO:0020281 obsolete metabolic disease with pigmentary retinitis
MONDO:0017432 obsolete syndrome with limb reduction defects
MONDO:0020232 obsolete musculoskeletal disease with cataract
MONDO:0016399 obsolete amino acid or protein metabolism disease with epilepsy
MONDO:0016402 obsolete mitochondrial disease with epilepsy
MONDO:0016403 obsolete mitochondrial disease with peripheral neuropathy
MONDO:0015920 obsolete syndromic neurometabolic disease with X-linked intellectual disability
MONDO:0016326 obsolete lysosomal disease with hypertrophic cardiomyopathy
MONDO:0019301 obsolete metabolic disease with skin involvement
MONDO:0019706 obsolete lysosomal storage disease with skeletal involvement
MONDO:0015188 obsolete metabolic disorder with intestinal involvement
MONDO:0015895 obsolete syndrome with hypoparathyroidism
MONDO:0016792 obsolete mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA
MONDO:0011140 obsolete benign familial neonatal-infantile seizures
MONDO:0017271 obsolete autosomal ichthyosis syndrome with prominent hair abnormalities
MONDO:0017021 obsolete secondary interstitial lung disease specific to childhood associated with a connective tissue disease
MONDO:0015877 obsolete malformative syndrome with dentinogenesis imperfecta
MONDO:0018558 obsolete syndrome with woolly hair
MONDO:0018718 obsolete vascular tumor with associated anomalies
MONDO:0020182 obsolete palpebral tumor with a vascular malformation
MONDO:0012501 obsolete mutagen sensitivity
MONDO:0015659 obsolete infectious disease with epilepsy
MONDO:0019066 obsolete syndrome with brachydactyly
MONDO:0015655 obsolete cerebral malformation with epilepsy
MONDO:0013617 obsolete overgrowth-macrocephaly-facial dysmorphism syndrome
MONDO:0016334 obsolete neuromuscular disease with dilated cardiomyopathy
MONDO:0017020 obsolete secondary interstitial lung disease specific to childhood associated with a systemic disease
MONDO:0015052 obsolete primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
MONDO:0015081 obsolete neuroendocrine tumor with other location
MONDO:0020266 obsolete genodermatosis with ocular features
MONDO:0015136 obsolete immunodeficiency due to a genetic complement cascade protein anomaly
MONDO:0015181 obsolete congenital intestinal disease due to an enzymatic defect
MONDO:0020138 obsolete ataxia with dementia
MONDO:0015331 obsolete malformation syndrome with skin/mucosae involvement
MONDO:0015495 obsolete otomandibular dysplasia associated with monogenic syndromes
MONDO:0017641 obsolete miscellaneous movement disorder due to neurodegenerative disease
MONDO:0017662 obsolete miscellaneous movement disorder due to genetic neurodegenerative disease
MONDO:0015572 obsolete cerebral malformation due to abnormal neuronal migration
MONDO:0015581 obsolete bile acid synthesis defect with cholestasis and malabsorption
MONDO:0015654 obsolete idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes
MONDO:0015656 obsolete metabolic disease with epilepsy
MONDO:0015658 obsolete cerebral diseases of vascular origin with epilepsy
MONDO:0015709 obsolete immunodeficiency syndrome with autoimmunity
MONDO:0015710 obsolete immune dysregulation disease with immunodeficiency
MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells
MONDO:0018035 obsolete syndrome with combined immunodeficiency
MONDO:0020063 obsolete malformation syndrome with hamartosis
MONDO:0015789 obsolete non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations
MONDO:0015825 obsolete obesity due to congenital leptin resistance
MONDO:0015919 obsolete syndromic neurometabolic disease with non-X-linked intellectual disability
MONDO:0015922 obsolete channelopathy with epilepsy
MONDO:0015928 obsolete secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease
MONDO:0016177 obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy
MONDO:0017952 obsolete non-familial rare disease with dilated cardiomyopathy
MONDO:0020253 obsolete syndrome with a symptomatic strabismus
MONDO:0016050 obsolete thiamine-responsive encephalopathy
MONDO:0016104 obsolete infectious disease with peripheral neuropathy
MONDO:0016136 obsolete cerebellar ataxia with peripheral neuropathy
MONDO:0016137 obsolete acute and subacute inflammatory demyelinating polyneuropathy
MONDO:0016178 obsolete peripheral neuropathy associated with monoclonal gammopathy
MONDO:0016180 obsolete hematological disease associated with an acquired peripheral neuropathy
MONDO:0016181 obsolete solid tumor associated with an acquired peripheral neuropathy
MONDO:0016235 obsolete complex vascular malformation with associated anomalies
MONDO:0016325 obsolete glycogen storage disease with hypertrophic cardiomyopathy
MONDO:0016327 obsolete mitochondrial disease with hypertrophic cardiomyopathy
MONDO:0016328 obsolete fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy
MONDO:0016335 obsolete mitochondrial disease with dilated cardiomyopathy
MONDO:0016336 obsolete fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy
MONDO:0016341 obsolete lysosomal disease with restrictive cardiomyopathy
MONDO:0020280 obsolete metabolic disease with cataract
MONDO:0016397 obsolete lysosomal disease with epilepsy
MONDO:0016398 obsolete peroxisomal disease with epilepsy
MONDO:0016400 obsolete metal transport or utilization disorder with epilepsy
MONDO:0016401 obsolete energy metabolism disorder with epilepsy
MONDO:0016405 obsolete sterol metabolism disorder with epilepsy
MONDO:0016435 obsolete acquired dermis elastic tissue disorder with decreased elastic tissue
MONDO:0016488 obsolete beta-thalassemia associated with another hemoglobin anomaly
MONDO:0016492 obsolete beta-thalassemia with other manifestations
MONDO:0018395 obsolete male infertility due to sperm motility disorder
MONDO:0016578 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
MONDO:0016628 obsolete hemorrhagic disorder due to a coagulation factors defect
MONDO:0016704 obsolete glial tumor of neuroepithelial tissue with unknown origin
MONDO:0016754 obsolete vestibular schwannoma
MONDO:0016791 obsolete mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies
MONDO:0016793 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
MONDO:0016795 obsolete mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA
MONDO:0016799 obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism
MONDO:0017016 obsolete primary interstitial lung disease specific to childhood due to alveolar structure disorder
MONDO:0017017 obsolete primary interstitial lung disease specific to childhood due to alveolar vascular disorder
MONDO:0017022 obsolete secondary interstitial lung disease specific to childhood associated with a systemic vasculitis
MONDO:0017023 obsolete secondary interstitial lung disease specific to childhood associated with a granulomatous disease
MONDO:0017024 obsolete secondary interstitial lung disease specific to childhood associated with a metabolic disease
MONDO:0017028 obsolete secondary interstitial lung disease specific to adulthood associated with a systemic disease
MONDO:0017032 obsolete primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder
MONDO:0017033 obsolete primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder
MONDO:0017037 obsolete secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease
MONDO:0017038 obsolete secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis
MONDO:0017119 obsolete syndrome with microcephaly as major feature
MONDO:0017121 obsolete syndrome with a Dandy-Walker malformation as major feature
MONDO:0017150 obsolete pulmonary arterial hypertension associated with another disease
MONDO:0017151 obsolete pulmonary arterial hypertension associated with connective tissue disease
MONDO:0017152 obsolete pulmonary arterial hypertension associated with congenital heart disease
MONDO:0017153 obsolete pulmonary arterial hypertension associated with HIV infection
MONDO:0017154 obsolete pulmonary arterial hypertension associated with portal hypertension
MONDO:0017155 obsolete pulmonary arterial hypertension associated with schistosomiasis
MONDO:0017156 obsolete pulmonary arterial hypertension associated with chronic hemolytic anemia
MONDO:0017158 obsolete pulmonary hypertension with unclear multifactorial mechanism
MONDO:0017163 obsolete hemolytic disease due to fetomaternal alloimmunization
MONDO:0017273 obsolete autosomal ichthyosis syndrome with fatal disease course
MONDO:0017333 obsolete hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism
MONDO:0017369 obsolete autoinflammatory syndrome with immune deficiency
MONDO:0017390 obsolete methylmalonic acidemia without homocystinuria
MONDO:0017434 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
MONDO:0017635 obsolete parkinsonian syndrome due to neurodegenerative disease
MONDO:0017643 obsolete frontotemporal neurodegeneration with movement disorder
MONDO:0017646 obsolete neurodegenerative disease with chorea
MONDO:0017647 obsolete postinfectious autoimmune disease with chorea
MONDO:0017693 obsolete glycogen storage disease due to glycogen synthase deficiency
MONDO:0017717 obsolete metabolic disease due to other fatty acid oxidation disorder
MONDO:0017718 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
MONDO:0017841 obsolete autoimmune disease with skin involvement
MONDO:0017897 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
MONDO:0017898 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency
MONDO:0017899 obsolete autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
MONDO:0017956 obsolete mixed autoinflammatory and autoimmune syndrome
MONDO:0017965 obsolete syndrome with 46,XX disorder of sex development
MONDO:0017970 obsolete 46,XY disorder of sex development due to impaired androgen production
MONDO:0017971 obsolete 46,XY disorder of sex development due to a cholesterol synthesis defect
MONDO:0018118 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
MONDO:0018036 obsolete immunodeficiency due to absence of thymus
MONDO:0018042 obsolete immunodeficiency syndrome with abnormal pigmentation
MONDO:0020276 obsolete pigmentation disorder with eye involvement, excluding albinism
MONDO:0018119 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement
MONDO:0018120 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement
MONDO:0018132 obsolete congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
MONDO:0018157 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis
MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency
MONDO:0018284 obsolete congenital disorder of glycosylation with neurological involvement
MONDO:0018288 obsolete congenital disorder of glycosylation with hepatic involvement
MONDO:0018289 obsolete congenital disorder of glycosylation with dilated cardiomyopathy
MONDO:0018291 obsolete congenital disorder of glycosylation with intestinal involvement
MONDO:0018293 obsolete congenital disorder of glycosylation with skin involvement
MONDO:0018296 obsolete congenital disorder of glycosylation with developmental anomaly
MONDO:0018335 obsolete deep dermatophytosis
MONDO:0018389 obsolete male infertility due to gonadal dysgenesis or sperm disorder
MONDO:0018390 obsolete male infertility due to sperm disorder
MONDO:0018391 obsolete male infertility with spermatogenesis disorder
MONDO:0018392 obsolete male infertility with spermatogenesis disorder due to single gene mutation
MONDO:0018398 obsolete female infertility due to a congenital hypogonadotropic hypogonadism
MONDO:0018402 obsolete female infertility due to gonadal dysgenesis
MONDO:0018403 obsolete female infertility due to an implantation defect
MONDO:0018407 obsolete male infertility due to obstructive azoospermia of genetic origin
MONDO:0018414 obsolete female infertility due to an implantation defect of genetic origin
MONDO:0018444 obsolete female infertility due to fertilization defect
MONDO:0018549 obsolete late-onset scapuloperoneal muscular dystrophy with hyaline bodies
MONDO:0018618 obsolete 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect
MONDO:0018649 obsolete cerebral visual impairment
MONDO:0018727 obsolete immunodeficiency due to a complement regulatory deficiency
MONDO:0018750 obsolete class I glucose-6-phosphate dehydrogenase deficiency
MONDO:0018789 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy
MONDO:0020229 obsolete cerebral disease with cataract
MONDO:0019594 obsolete 46,XY disorder of sex development due to a testosterone synthesis defect
MONDO:0019595 obsolete 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
MONDO:0019596 obsolete 46,XY disorder of sex development due to testicular steroidogenesis defect
MONDO:0019715 obsolete syndrome with synostosis or other joint formation defect
MONDO:0019717 obsolete chromosomal disease with overgrowth
MONDO:0019747 obsolete hematological disorder with renal involvement
MONDO:0019853 obsolete congenital hypothyroidism due to developmental anomaly
MONDO:0019856 obsolete primary congenital hypothyroidism without thyroid developmental anomaly
MONDO:0019859 obsolete congenital thyroid malformation without hypothyroidism
MONDO:0020041 obsolete 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue
MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development
MONDO:0020045 obsolete autosomal recessive cerebellar ataxia due to a DNA repair defect
MONDO:0020078 obsolete acute myeloid leukemia with recurrent genetic anomaly
MONDO:0020090 obsolete male infertility due to gonadal dysgenesis
MONDO:0020091 obsolete male infertility due to obstructive azoospermia
MONDO:0020098 obsolete constitutional anemia due to iron metabolism disorder
MONDO:0020101 obsolete constitutional hemolytic anemia due to membrane defect
MONDO:0020103 obsolete constitutional hemolytic anemia due to acanthocytosis
MONDO:0020105 obsolete hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies
MONDO:0020106 obsolete hemolytic anemia due to a disorder of glycolytic enzymes
MONDO:0020107 obsolete hemolytic anemia due to an erythrocyte nucleotide metabolism disorder
MONDO:0020109 obsolete constitutional megaloblastic anemia due to vitamin B12 metabolism disorder
MONDO:0020111 obsolete constitutional megaloblastic anemia due to folate metabolism disorder
MONDO:0020137 obsolete frontotemporal degeneration with dementia
MONDO:0020142 obsolete metabolic disease with dementia
MONDO:0020217 obsolete secondary dysgenetic glaucoma associated with neural crest cell migration anomaly
MONDO:0020230 obsolete renal disease with cataract
MONDO:0020231 obsolete cardiac disease with cataract
MONDO:0020233 obsolete dentocutaneous disease with cataract
MONDO:0020259 obsolete myopathy with eye involvement
MONDO:0020265 obsolete mitochondrial disease with eye involvement
MONDO:0020267 obsolete genetic keratinization disorder associated with ocular features
MONDO:0020270 obsolete pigmentation disorder with eye involvement
MONDO:0020273 obsolete disease with potential neoplastic degeneration associated with ocular features
MONDO:0020274 obsolete onycho-patellar syndrome with eye involvement
MONDO:0020278 obsolete metabolic disease associated with ocular features
MONDO:0020279 obsolete metabolic disease with corneal opacity
MONDO:0020282 obsolete metabolic disease with macular cherry-red spot
MONDO:0021421 obsolete carcinoid tumors, intestina
MONDO:0024348 obsolete pityriasis capitis
MONDO:0027750 obsolete serpinopathy with toxic serpin polymerization
MONDO:0027751 obsolete serpinopathy with loss of serpin function
MONDO:0033967 obsolete immune dysregulation with inflammatory bowel disease

New obsoletion candidates

Mondo ID Label
MONDO:0006600 pigmentation disease
MONDO:0020247 congenital vitreoretinal dysplasia
MONDO:0004553 extrinsic allergic alveolitis
MONDO:0021191 malignant ependymoma
MONDO:0004771 Fuchs' heterochromic uveitis
MONDO:0005992 trichinosis
MONDO:0006147 chronic eosinophilic leukemia, not otherwise specified
MONDO:0006584 neonatal jaundice
MONDO:0020248 vitreoretinal degeneration
MONDO:0007061 acylase, cobalt-activated
MONDO:0015551 basal epidermolysis bullosa simplex
MONDO:0020218 goniodysgenesis
MONDO:0007780 hypertelorism, Teebi type
MONDO:0008042 myoclonus and ataxia
MONDO:0008345 idiopathic pulmonary fibrosis
MONDO:0019341 tuberous sclerosis complex
MONDO:0008852 congenital central hypoventilation syndrome
MONDO:0008856 immunodeficiency 27A
MONDO:0008940 endosteal sclerosis-cerebellar hypoplasia syndrome
MONDO:0008942 cerebelloparenchymal disorder II
MONDO:0009096 hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
MONDO:0009316 hair defect-photosensitivity-intellectual disability syndrome
MONDO:0010113 thalidomide susceptibility
MONDO:0010783 Alzheimer disease, susceptibility to, mitochondrial
MONDO:0011111 horns in sheep
MONDO:0011319 activator of liver function 1
MONDO:0020220 corneoiridogoniodysgenesis
MONDO:0011707 familial dyskinesia and facial myokymia
MONDO:0013733 accelerated tumor formation, susceptibility to
MONDO:0014616 Skint1-like pseudogene
MONDO:0016036 Ledderhose disease
MONDO:0016626 hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency
MONDO:0019511 autosomal dominant medullary cystic kidney disease with hyperuricemia
MONDO:0019774 Holmes-Gang syndrome
MONDO:0020312 atypical chronic myeloid leukemia
MONDO:0020358 coloboma of optic disc
MONDO:0020670 antithrombin deficiency type 2
MONDO:0022556 oculo-cerebral dysplasia
MONDO:0022916 cystic hygroma lethal cleft palate
MONDO:0022926 daentl towsend Siegel syndrome
MONDO:0023000 dobrow syndrome
MONDO:0032647 global developmental delay, lung cysts, overgrowth, and wilms tumor
MONDO:0042908 Schaap-Taylor-Baraitser syndrome
MONDO:0044354 Rosai-Dorfman disease
MONDO:0044684 tuberculous meningitis
MONDO:0056821 bronchiolitis obliterans organizing pneumonia
MONDO:0100461 gastrointestinal defects and immunodeficiency syndrome

Terms that were previously candidate for obsoletion and are now not anymore

No changes.

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Overview:

  • Number of new terms: 55
  • Number of changed labels: 290
  • Number of changed definitions: 106
  • Number obsoleted terms: 16
  • Number of new obsoletion candidates: 78
  • Number of terms who were previously candidate for obsoletion and are now not anymore: 5

New terms

Mondo ID Label Definition
MONDO:0100468 Batten-Turner congenital myopathy A congenital myopathy described by Batten (1910) and later Turner (1949) and Turner and Lees (1962) in which a family of 6 siblings presented in infancy the picture of 'amyotonia congenita' and later in life a nonprogressive myopathy.
MONDO:0100470 reactive airway disease Coughing, wheezing, or shortness of breath that is triggered by allergens, infection, or other irritants.
MONDO:0100471 vitamin D deficiency Abnormally low level of 25-hydroxyvitamin D in the blood.
MONDO:0100474 mild ichthyosis vulgaris An instance of ichthyosis vulgaris in which the disease presentation is mild in severity. Heterozygote FLG mutation carriers often have mild manifestations.
MONDO:0100475 severe ichthyosis vulgaris An instance of ichthyosis vulgaris in which the disease presentation is severe in severity. Homozygous FLG mutation carriers often have more severe manifestations.
MONDO:0100476 lipodystrophy, partial, acquired, susceptibility to An inherited susceptibility or predisposition to developing aquired partial lipodystrophy.
MONDO:0100479 rifampicin-resistant tuberculosis A form of drug-resistant tuberculosis that is resisant to rifampicin with or without resistance to other antitubercular medications.
MONDO:0100480 autoimmune primary adrenal insufficiency Diminished production of adrenocortical hormones due to autoimmune destruction of the adrenal glands.
MONDO:0100481 active tuberculosis Tuberculosis caused by primary infection of or reactivation of latent Mycobacterium tuberculosis. Active tuberculosis characterized by clinical manifestation and active symptoms compatible with tuberculosis, and is distinct from latent tuberculosis infection that occurs without signs or symptoms of active disease.
MONDO:0100482 extensively drug-resistant tuberculosis A type of drug-resistant tuberculosis that is resistant to any fluoroquinolone, and at least one of three second-line injectable drugs (capreomycin, kanamycin, and amikacin), in addition to resistance to rifampicin and isoniazid.
MONDO:0100483 totally drug-resistant tuberculosis A type of drug-resistant tuberculosis that is resistant to all first- and second-line antitubercular drugs tested (isoniazid, rifampicin, streptomycin, ethambutol, pyrazinamide, ethionamide, para-aminosalicylic acid, cycloserine, ofloxacin, amikacin, ciprofloxacin, capreomycin, kanamycin).
MONDO:0100484 TSPAN12-related vitreoretinopathy A vitreoretinopathy caused by variants in the TSPAN12 gene.
MONDO:0700008 chromosome 1 disorder Chromosomal disorder in which chromosome 1 is affected.
MONDO:0700009 chromosome 2 disorder Chromosomal disorder in which chromosome 2 is affected.
MONDO:0700010 chromosome 3 disorder Chromosomal disorder in which chromosome 3 is affected.
MONDO:0700011 chromosome 4 disorder Chromosomal disorder in which chromosome 4 is affected.
MONDO:0700012 chromosome 5 disorder Chromosomal disorder in which chromosome 5 is affected.
MONDO:0700013 chromosome 6 disorder Chromosomal disorder in which chromosome 6 is affected.
MONDO:0700014 chromosome 7 disorder Chromosomal disorder in which chromosome 7 is affected.
MONDO:0700015 chromosome 8 disorder Chromosomal disorder in which chromosome 8 is affected.
MONDO:0700016 chromosome 9 disorder Chromosomal disorder in which chromosome 9 is affected.
MONDO:0700017 chromosome 10 disorder Chromosomal disorder in which chromosome 10 is affected.
MONDO:0700018 chromosome 11 disorder Chromosomal disorder in which chromosome 11 is affected.
MONDO:0700019 chromosome 12 disorder Chromosomal disorder in which chromosome 12 is affected.
MONDO:0700020 chromosome 13 disorder Chromosomal disorder in which chromosome 13 is affected.
MONDO:0700021 chromosome 14 disorder Chromosomal disorder in which chromosome 14 is affected.
MONDO:0700022 chromosome 15 disorder Chromosomal disorder in which chromosome 15 is affected.
MONDO:0700023 chromosome 16 disorder Chromosomal disorder in which chromosome 16 is affected.
MONDO:0700024 chromosome 19 disorder Chromosomal disorder in which chromosome 19 is affected.
MONDO:0700025 chromosome 20 disorder Chromosomal disorder in which chromosome 20 is affected.
MONDO:0700026 chromosome 22 disorder Chromosomal disorder in which chromosome 22 is affected.
MONDO:0700027 chromosome X disorder Chromosomal disorder in which chromosome X is affected.
MONDO:0700028 chromosome Y disorder Chromosomal disorder in which chromosome Y is affected.
MONDO:0700029 partial duplication of chromosome 13
MONDO:0700030 complete trisomy 21 Trisomy 21 characterized by the presence of an extra chromosome 21 in all the cells of the organism.
MONDO:0700031 mosaic trisomy 18 Trisomy 18 in which the presence of an extra copy of chromosome 18 is present only in some of the cells of the organism.
MONDO:0700032 complete trisomy 18 Trisomy 18 in which the presence of an extra copy of chromosome 18 is present in all the cells of the organism.
MONDO:0700033 complete trisomy 13 Trisomy 13 in which the presence of an extra copy of chromosome 13 is present in all the cells of the organism.
MONDO:0700034 mosaic trisomy 13 Trisomy 13 in which the presence of an extra copy of chromosome 13 is present only in some of the cells of the organism.
MONDO:0700035 monosomy chromosome 8 A chromosomal disorder consisting of the absence of one chromosome 8.
MONDO:0700036 fibrothecoma A sex cord-stromal tumor characterized by mixed features of both fibroma and thecoma.
MONDO:0700037 testicular fibrothecoma A rare testicular sex cord-stromal neoplasm characterized by mixed features of both fibroma and thecoma.
MONDO:0700118 proximal chromosome 18q deletion syndrome Chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material from the part of the long (q) arm near the center of chromosome 18.
MONDO:0700119 distal chromosome 18q deletion syndrome Distal chromosome 18q deletion syndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material at the end of the long arm (q) of chromosome 18.
MONDO:0700120 BAFopathy Disorder caused by mutations in the various subunits composing the BAF complex.
MONDO:0700121 ACTL6A-related BAFopathy Any BAFopathy in which the cause of the disease is a mutation in the ACTL6A gene.
MONDO:0700122 PBRM1-related BAFopathy Any BAFopathy in which the cause of the disease is a mutation in the PBRM1 gene.
MONDO:0700123 SMARCC1-related BAFopathy Any BAFopathy in which the cause of the disease is a mutation in the SMARCC1 gene.
MONDO:0700124 chromosome 21 disorder Chromosomal disorder in which chromosome 21 is affected.
MONDO:0700125 chromosome 18 disorder Chromosomal disorder in which chromosome 18 is affected.
MONDO:0700126 trisomy 21 A chromosomal disorder consisting of the presence of an extra chromosome 21.
MONDO:0700127 mosaic trisomy 21 Trisomy 21 characterized by the presence of an extra chromosome 21 in some of the cells of the organism.
MONDO:0700128 translocation Down syndrome Down syndrome in which the extra (partial or total) copy of chromosome 21 is attached to another chromosome.
MONDO:0700129 mosaic translocation Down syndrome Translocation Down syndrome in which the extra (partial or total) copy of chromosome 21 attached to another chromosome is present in some of the cells of the organism.
MONDO:0700130 partial Trisomy 21 A chromosomal disorder consisting of the partial duplication of chromosome 21.

Changed terms

Changed labels

Mondo ID Label Previous release New release
MONDO:0002816 adrenal cortex disorder adrenal cortex disease adrenal cortex disorder
MONDO:0020128 motor neuron disorder motor neuron disease motor neuron disorder
MONDO:0005039 reproductive system disorder reproductive system disease reproductive system disorder
MONDO:0002259 gonadal disorder gonadal disease gonadal disorder
MONDO:0005560 brain disorder brain disease brain disorder
MONDO:0003225 bone marrow disorder bone marrow disease bone marrow disorder
MONDO:0005172 skeletal system disorder skeletal system disease skeletal system disorder
MONDO:0005151 endocrine system disorder endocrine system disease endocrine system disorder
MONDO:0004805 leukocyte disorder leukocyte disease leukocyte disorder
MONDO:0020592 disorder of pharynx disease of pharynx disorder of pharynx
MONDO:0043424 digestive system infectious disorder digestive system infectious disease digestive system infectious disorder
MONDO:0044987 face disorder face disease face disorder
MONDO:0002917 disorder of pilosebaceous unit disease of pilosebaceous unit disorder of pilosebaceous unit
MONDO:0024481 skin appendage disorder skin appendage disease skin appendage disorder
MONDO:0002051 integumentary system disorder integumentary system disease integumentary system disorder
MONDO:0024294 skin disorder caused by infection skin disease caused by infection skin disorder caused by infection
MONDO:0000270 lower respiratory tract disorder lower respiratory tract disease lower respiratory tract disorder
MONDO:0005087 respiratory system disorder respiratory system disease respiratory system disorder
MONDO:0005154 liver disorder liver disease liver disorder
MONDO:0005093 skin disorder skin disease skin disorder
MONDO:0004928 lymph node disorder lymph node disease lymph node disorder
MONDO:0000812 vertebral column disorder vertebral column disease vertebral column disorder
MONDO:0004335 digestive system disorder digestive system disease digestive system disorder
MONDO:0024634 large intestine disorder large intestine disease large intestine disorder
MONDO:0045013 disorder of extraembryonic membrane disease of extraembryonic membrane disorder of extraembryonic membrane
MONDO:0003900 connective tissue disorder connective tissue disease connective tissue disorder
MONDO:0002427 cerebellar disorder cerebellar disease cerebellar disorder
MONDO:0000462 eye adnexa disorder eye adnexa disease eye adnexa disorder
MONDO:0002022 disorder of orbital region disease of orbital region disorder of orbital region
MONDO:0000469 sinoatrial node disorder sinoatrial node disease sinoatrial node disorder
MONDO:0000470 endocardium disorder endocardium disease endocardium disorder
MONDO:0005267 heart disorder heart disease heart disorder
MONDO:0000471 tricuspid valve disorder tricuspid valve disease tricuspid valve disorder
MONDO:0002869 heart valve disorder heart valve disease heart valve disorder
MONDO:0005385 vascular disorder vascular disease vascular disorder
MONDO:0000474 pericardium disorder pericardium disease pericardium disorder
MONDO:0020120 skeletal muscle disorder skeletal muscle disease skeletal muscle disorder
MONDO:0004382 laryngeal disorder laryngeal disease laryngeal disorder
MONDO:0019722 glomerular disorder glomerular disease glomerular disorder
MONDO:0002654 uterine disorder uterine disease uterine disorder
MONDO:0003939 muscle tissue disorder muscle tissue disease muscle tissue disorder
MONDO:0000568 autoimmune disorder of central nervous system autoimmune disease of central nervous system autoimmune disorder of central nervous system
MONDO:0002602 central nervous system disorder central nervous system disease central nervous system disorder
MONDO:0002977 autoimmune disorder of the nervous system autoimmune disease of the nervous system autoimmune disorder of the nervous system
MONDO:0000569 autoimmune disorder of endocrine system autoimmune disease of endocrine system autoimmune disorder of endocrine system
MONDO:0000586 autoimmune disorder of exocrine system autoimmune disease of exocrine system autoimmune disorder of exocrine system
MONDO:0000588 autoimmune disorder of gastrointestinal tract autoimmune disease of gastrointestinal tract autoimmune disorder of gastrointestinal tract
MONDO:0000589 autoimmune disorder of musculoskeletal system autoimmune disease of musculoskeletal system autoimmune disorder of musculoskeletal system
MONDO:0002081 musculoskeletal system disorder musculoskeletal system disease musculoskeletal system disorder
MONDO:0000590 autoimmune disorder of peripheral nervous system autoimmune disease of peripheral nervous system autoimmune disorder of peripheral nervous system
MONDO:0003620 peripheral nervous system disorder peripheral nervous system disease peripheral nervous system disorder
MONDO:0000601 autoimmune disorder of urogenital tract autoimmune disease of urogenital tract autoimmune disorder of urogenital tract
MONDO:0021145 disorder of genitourinary system disease of genitourinary system disorder of genitourinary system
MONDO:0000602 autoimmune disorder of blood autoimmune disease of blood autoimmune disorder of blood
MONDO:0005570 hematologic disorder hematologic disease hematologic disorder
MONDO:0000603 autoimmune disorder of cardiovascular system autoimmune disease of cardiovascular system autoimmune disorder of cardiovascular system
MONDO:0004995 cardiovascular disorder cardiovascular disease cardiovascular disorder
MONDO:0005046 immune system disorder immune system disease immune system disorder
MONDO:0005240 kidney disorder kidney disease kidney disorder
MONDO:0005833 lymphatic system disorder lymphatic system disease lymphatic system disorder
MONDO:0003150 male reproductive system disorder male reproductive system disease male reproductive system disorder
MONDO:0000651 thoracic disorder thoracic disease thoracic disorder
MONDO:0005328 eye disorder eye disease eye disorder
MONDO:0000942 corneal disorder corneal disease corneal disorder
MONDO:0004867 upper respiratory tract disorder upper respiratory tract disease upper respiratory tract disorder
MONDO:0006858 mouth disorder mouth disease mouth disorder
MONDO:0005275 lung disorder lung disease lung disorder
MONDO:0024355 respiratory tract infectious disorder respiratory tract infectious disease respiratory tract infectious disorder
MONDO:0002657 breast disorder breast disease breast disorder
MONDO:0006999 tooth disorder tooth disease tooth disorder
MONDO:0002256 cervix disorder cervix disease cervix disorder
MONDO:0001593 rectal disorder rectal disease rectal disorder
MONDO:0002263 female reproductive system disorder female reproductive system disease female reproductive system disorder
MONDO:0005381 bone disorder bone disease bone disorder
MONDO:0003409 colonic disorder colonic disease colonic disorder
MONDO:0020010 infectious disorder of the nervous system infectious disease of the nervous system infectious disorder of the nervous system
MONDO:0000931 endometrial disorder endometrial disease endometrial disorder
MONDO:0000941 eyelid degenerative disorder eyelid degenerative disease eyelid degenerative disorder
MONDO:0003382 eyelid disorder eyelid disease eyelid disorder
MONDO:0004884 eye degenerative disorder eye degenerative disease eye degenerative disorder
MONDO:0004634 vein disorder vein disease vein disorder
MONDO:0001854 lacrimal apparatus disorder lacrimal apparatus disease lacrimal apparatus disorder
MONDO:0005561 aortic disorder aortic disease aortic disorder
MONDO:0002037 pleural disorder pleural disease pleural disorder
MONDO:0005281 gallbladder disorder gallbladder disease gallbladder disorder
MONDO:0002409 auditory system disorder auditory system disease auditory system disorder
MONDO:0044986 lymphoid system disorder lymphoid system disease lymphoid system disorder
MONDO:0004821 nasopharyngeal disorder nasopharyngeal disease nasopharyngeal disorder
MONDO:0003749 esophageal disorder esophageal disease esophageal disorder
MONDO:0005020 intestinal disorder intestinal disease intestinal disorder
MONDO:0002519 anus disorder anus disease anus disorder
MONDO:0002356 pancreas disorder pancreas disease pancreas disorder
MONDO:0021568 renal tubule disorder renal tubule disease renal tubule disorder
MONDO:0024270 parasitic intestinal disorder parasitic intestinal disease parasitic intestinal disorder
MONDO:0045043 disorder of uterine broad ligament disease of uterine broad ligament disorder of uterine broad ligament
MONDO:0004298 stomach disorder stomach disease stomach disorder
MONDO:0002329 testicular disorder testicular disease testicular disorder
MONDO:0001142 salivary gland disorder salivary gland disease salivary gland disorder
MONDO:0007002 trochlear nerve disorder trochlear nerve disease trochlear nerve disorder
MONDO:0001165 tongue disorder tongue disease tongue disorder
MONDO:0001174 conjunctival vascular disorder conjunctival vascular disease conjunctival vascular disorder
MONDO:0005552 ocular vascular disorder ocular vascular disease ocular vascular disorder
MONDO:0001176 lens disorder lens disease lens disorder
MONDO:0005283 retinal disorder retinal disease retinal disorder
MONDO:0003105 prostate disorder prostate disease prostate disorder
MONDO:0002285 pupil disorder pupil disease pupil disorder
MONDO:0003394 dental pulp disorder dental pulp disease dental pulp disorder
MONDO:0001223 parathyroid gland disorder parathyroid gland disease parathyroid gland disorder
MONDO:0024635 small intestine disorder small intestine disease small intestine disorder
MONDO:0002311 retinal vascular disorder retinal vascular disease retinal vascular disorder
MONDO:0024610 parasitic skin disorder parasitic skin disease parasitic skin disorder
MONDO:0002021 gingival disorder gingival disease gingival disorder
MONDO:0001269 scleral disorder scleral disease scleral disorder
MONDO:0001898 optic choroid disorder optic choroid disease optic choroid disorder
MONDO:0002156 fallopian tube disorder fallopian tube disease fallopian tube disorder
MONDO:0020591 disorder of peritoneum disease of peritoneum disorder of peritoneum
MONDO:0001292 autonomic nervous system disorder autonomic nervous system disease autonomic nervous system disorder
MONDO:0003767 mitral valve disorder mitral valve disease mitral valve disorder
MONDO:0003546 third cranial nerve disorder third cranial nerve disease third cranial nerve disorder
MONDO:0002405 hepatic vascular disorder hepatic vascular disease hepatic vascular disorder
MONDO:0045044 ligament disorder ligament disease ligament disorder
MONDO:0001358 bronchial disorder bronchial disease bronchial disorder
MONDO:0003276 middle ear disorder middle ear disease middle ear disorder
MONDO:0002332 splenic disorder splenic disease splenic disorder
MONDO:0041154 disorder of neck of urinary bladder disease of neck of urinary bladder disorder of neck of urinary bladder
MONDO:0004860 vitreous disorder vitreous disease vitreous disorder
MONDO:0003584 visual cortex disorder visual cortex disease visual cortex disorder
MONDO:0005010 coronary artery disorder coronary artery disease coronary artery disorder
MONDO:0003543 trigeminal nerve disorder trigeminal nerve disease trigeminal nerve disorder
MONDO:0005495 adrenal gland disorder adrenal gland disease adrenal gland disorder
MONDO:0001433 vaginal disorder vaginal disease vaginal disorder
MONDO:0003648 tympanic membrane disorder tympanic membrane disease tympanic membrane disorder
MONDO:0006026 urinary bladder disorder urinary bladder disease urinary bladder disorder
MONDO:0056799 synovium disorder synovium disease synovium disorder
MONDO:0045003 scrotal disorder scrotal disease scrotal disorder
MONDO:0004866 eustachian tube disorder eustachian tube disease eustachian tube disorder
MONDO:0004184 urethral disorder urethral disease urethral disorder
MONDO:0003182 anterior horn disorder anterior horn disease anterior horn disorder
MONDO:0003240 thyroid gland disorder thyroid gland disease thyroid gland disorder
MONDO:0001535 vagus nerve disorder vagus nerve disease vagus nerve disorder
MONDO:0002639 glossopharyngeal nerve disorder glossopharyngeal nerve disease glossopharyngeal nerve disorder
MONDO:0043218 neurovascular disorder neurovascular disease neurovascular disorder
MONDO:0001563 vestibulocochlear nerve disorder vestibulocochlear nerve disease vestibulocochlear nerve disorder
MONDO:0005042 head disorder head disease head disorder
MONDO:0001574 capillary disorder capillary disease capillary disorder
MONDO:0045004 skeletal ligament disorder skeletal ligament disease skeletal ligament disorder
MONDO:0001597 submandibular gland disorder submandibular gland disease submandibular gland disorder
MONDO:0005269 carotid artery disorder carotid artery disease carotid artery disorder
MONDO:0044990 hand disorder hand disease hand disorder
MONDO:0002887 bile duct disorder bile duct disease bile duct disorder
MONDO:0005218 muscular disorder muscular disease muscular disorder
MONDO:0001735 paranasal sinus disorder paranasal sinus disease paranasal sinus disorder
MONDO:0002135 optic nerve disorder optic nerve disease optic nerve disorder
MONDO:0044984 nasolacrimal duct disorder nasolacrimal duct disease nasolacrimal duct disorder
MONDO:0001933 endocrine pancreas disorder endocrine pancreas disease endocrine pancreas disorder
MONDO:0044989 foot disorder foot disease foot disorder
MONDO:0001810 hypoglossal nerve disorder hypoglossal nerve disease hypoglossal nerve disorder
MONDO:0002098 facial nerve disorder facial nerve disease facial nerve disorder
MONDO:0024432 nerve plexus disorder nerve plexus disease nerve plexus disorder
MONDO:0001834 visual pathway disorder visual pathway disease visual pathway disorder
MONDO:0002118 urinary system disorder urinary system disease urinary system disorder
MONDO:0020594 abducens nerve disorder abducens nerve disease abducens nerve disorder
MONDO:0005558 ovarian disorder ovarian disease ovarian disorder
MONDO:0002467 inner ear disorder inner ear disease inner ear disorder
MONDO:0002661 uveal disorder uveal disease uveal disorder
MONDO:0002567 tracheal disorder tracheal disease tracheal disorder
MONDO:0001926 ureteral disorder ureteral disease ureteral disorder
MONDO:0003628 pulmonary valve disorder pulmonary valve disease pulmonary valve disorder
MONDO:0002635 periodontal disorder periodontal disease periodontal disorder
MONDO:0044992 mouth mucosa disorder mouth mucosa disease mouth mucosa disorder
MONDO:0002031 cecal disorder cecal disease cecal disorder
MONDO:0002036 penile disorder penile disease penile disorder
MONDO:0004748 lip disorder lip disease lip disorder
MONDO:0024458 disorder of visual system disease of visual system disorder of visual system
MONDO:0002150 hypothalamic disorder hypothalamic disease hypothalamic disorder
MONDO:0003081 thalamic disorder thalamic disease thalamic disorder
MONDO:0002232 nasal cavity disorder nasal cavity disease nasal cavity disorder
MONDO:0021059 head or neck disorder/disorder head or neck disease/disorder head or neck disorder/disorder
MONDO:0024467 apocrine sweat gland disorder apocrine sweat gland disease apocrine sweat gland disorder
MONDO:0002289 iris disorder iris disease iris disorder
MONDO:0021154 dermis disorder dermis disease dermis disorder
MONDO:0020676 disorder of central nervous system or retinal vasculature disease of central nervous system or retinal vasculature disorder of central nervous system or retinal vasculature
MONDO:0003816 articular cartilage disorder articular cartilage disease articular cartilage disorder
MONDO:0006615 sweat gland disorder sweat gland disease sweat gland disorder
MONDO:0021205 disorder of ear disease of ear disorder of ear
MONDO:0056802 synovial bursa disorder synovial bursa disease synovial bursa disorder
MONDO:0002515 hepatobiliary disorder hepatobiliary disease hepatobiliary disorder
MONDO:0002545 spinal cord disorder spinal cord disease spinal cord disorder
MONDO:0002636 accessory nerve disorder accessory nerve disease accessory nerve disorder
MONDO:0002643 vestibular disorder vestibular disease vestibular disorder
MONDO:0002866 duodenal disorder duodenal disease duodenal disorder
MONDO:0003381 pituitary gland disorder pituitary gland disease pituitary gland disorder
MONDO:0002727 olfactory nerve disorder olfactory nerve disease olfactory nerve disorder
MONDO:0002776 external ear disorder external ear disease external ear disorder
MONDO:0002884 nail disorder nail disease nail disorder
MONDO:0002886 common bile duct disorder common bile duct disease common bile duct disorder
MONDO:0004868 biliary tract disorder biliary tract disease biliary tract disorder
MONDO:0044999 scalp disorder scalp disease scalp disorder
MONDO:0002970 ciliary body disorder ciliary body disease ciliary body disorder
MONDO:0100070 neuroendocrine disorder neuroendocrine disease neuroendocrine disorder
MONDO:0003393 thymus gland disorder thymus gland disease thymus gland disorder
MONDO:0003452 cochlear disorder cochlear disease cochlear disorder
MONDO:0044996 cerebral cortex disorder cerebral cortex disease cerebral cortex disorder
MONDO:0044991 upper digestive tract disorder upper digestive tract disease upper digestive tract disorder
MONDO:0003803 aortic valve disorder aortic valve disease aortic valve disorder
MONDO:0045001 cardiac ventricle disorder cardiac ventricle disease cardiac ventricle disorder
MONDO:0045002 vertebral disorder vertebral disease vertebral disorder
MONDO:0003996 basal ganglia disorder basal ganglia disease basal ganglia disorder
MONDO:0023369 disorder of facial skeleton disease of facial skeleton disorder of facial skeleton
MONDO:0019296 subcutaneous tissue disorder subcutaneous tissue disease subcutaneous tissue disorder
MONDO:0043707 mediastinal disorder mediastinal disease mediastinal disorder
MONDO:0005917 placenta disorder placenta disease placenta disorder
MONDO:0020675 ischemic bowel disorder ischemic bowel disease ischemic bowel disorder
MONDO:0015188 metabolic disorder with intestinal involvement metabolic disease with intestinal involvement metabolic disorder with intestinal involvement
MONDO:0005728 diaphragm disorder diaphragm disease diaphragm disorder
MONDO:0006607 sebaceous gland disorder sebaceous gland disease sebaceous gland disorder
MONDO:0043885 eye infectious disorder eye infectious disease eye infectious disorder
MONDO:0044993 sympathetic nervous system disorder sympathetic nervous system disease sympathetic nervous system disorder
MONDO:0044347 erythrocyte disorder erythrocyte disease erythrocyte disorder
MONDO:0037847 vertebral joint disorder vertebral joint disease vertebral joint disorder
MONDO:0005476 atrioventricular node disorder atrioventricular node disease atrioventricular node disorder
MONDO:0005899 parotid disorder parotid disease parotid disorder
MONDO:0006505 basal ganglia cerebrovascular disorder basal ganglia cerebrovascular disease basal ganglia cerebrovascular disorder
MONDO:0024468 anterior pituitary gland disorder anterior pituitary gland disease anterior pituitary gland disorder
MONDO:0100450 CAPN5-related vitreoretinopathy CAPN5 vitreoretinopathy CAPN5-related vitreoretinopathy
MONDO:0019288 skin pigmentation disorder skin pigmentation disease skin pigmentation disorder
MONDO:0007239 epidermolytic ichthyosis epidermolytic hyperkeratosis epidermolytic ichthyosis
MONDO:0007245 cafe au lait spots, multiple neurofibromatosis type 6 cafe au lait spots, multiple
MONDO:0007295 childhood epilepsy with centrotemporal spikes rolandic epilepsy childhood epilepsy with centrotemporal spikes
MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type Ehlers-Danlos syndrome progeroid type Ehlers-Danlos syndrome, spondylodysplastic type
MONDO:0100443 RDH5-related retinopathy RDH5 retinopathy RDH5-related retinopathy
MONDO:0100444 RLBP1-related retinopathy RLBP1 retinopathy RLBP1-related retinopathy
MONDO:0007804 Pallister-Hall syndrome Pallister-hall syndrome Pallister-Hall syndrome
MONDO:0007813 superficial epidermolytic ichthyosis ichthyosis bullosa of Siemens superficial epidermolytic ichthyosis
MONDO:0044988 hip region disorder hip region disease hip region disorder
MONDO:0009710 Thomsen and Becker disease myotonia congenita Thomsen and Becker disease
MONDO:0008097 linear nevus sebaceous syndrome linear nevus sebaceus syndrome linear nevus sebaceous syndrome
MONDO:0008429 Singleton-Merten dysplasia singleton-Merten dysplasia Singleton-Merten dysplasia
MONDO:0100453 GUCY2D-related recessive retinopathy recessive GUCY2D retinopathy GUCY2D-related recessive retinopathy
MONDO:0100368 RPE65-related recessive retinopathy recessive RPE65 retinopathy RPE65-related recessive retinopathy
MONDO:0015131 combined immunodeficiency congenital combined immunodeficiency combined immunodeficiency
MONDO:0018814 non-SCID combined immunodeficiency non-severe combined immunodeficiency non-SCID combined immunodeficiency
MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency glycogen storage disease due to hepatic glycogen synthase deficiency glycogen storage disorder due to hepatic glycogen synthase deficiency
MONDO:0100446 CNGB3-related retinopathy CNGB3 retinopathy CNGB3-related retinopathy
MONDO:0100437 RPGR-related retinopathy RPGR retinopathy RPGR-related retinopathy
MONDO:0100442 RP2-related retinopathy RP2 retinopathy RP2-related retinopathy
MONDO:0010799 deafness, aminoglycoside-induced aminoglycoside-induced hearing loss deafness, aminoglycoside-induced
MONDO:0011134 Curry-Jones syndrome curry-Jones syndrome Curry-Jones syndrome
MONDO:0011141 megaloblastic anemia, folate-responsive folate level in erythrocytes megaloblastic anemia, folate-responsive
MONDO:0011308 GRACILE syndrome gracile syndrome GRACILE syndrome
MONDO:0011396 loricrin keratoderma keratoderma hereditarium mutilans with ichthyosis loricrin keratoderma
MONDO:0100438 AIPL1-related retinopathy AIPL1 retinopathy AIPL1-related retinopathy
MONDO:0100445 LCA5-related retinopathy LCA5 retinopathy LCA5-related retinopathy
MONDO:0012013 Weill-Marchesani syndrome 2, dominant glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome Weill-Marchesani syndrome 2, dominant
MONDO:0100449 FLVCR1-related retinopathy with or without ataxia FLVCR1 retinopathy with or without ataxia FLVCR1-related retinopathy with or without ataxia
MONDO:0100451 CEP290-related ciliopathy CEP290 ciliopathy CEP290-related ciliopathy
MONDO:0012496 Koolen-de Vries syndrome Koolen de Vries syndrome Koolen-de Vries syndrome
MONDO:0012682 immunodeficiency 35 susceptibility to infection due to TYK2 deficiency immunodeficiency 35
MONDO:0013176 Weill-Marchesani 4 syndrome, recessive ichthyosis-short stature-brachydactyly-microspherophakia syndrome Weill-Marchesani 4 syndrome, recessive
MONDO:0013868 porokeratosis 7, multiple types porokeratosis 7, disseminated superficial actinic type porokeratosis 7, multiple types
MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 Ehlers-Danlos syndrome, progeroid type, 2 Ehlers-Danlos syndrome, spondylodysplastic type, 2
MONDO:0014150 developmental and epileptic encephalopathy 94 childhood onset epileptic encephalopathy developmental and epileptic encephalopathy 94
MONDO:0100448 RAB28-related retinopathy RAB28 retinopathy RAB28-related retinopathy
MONDO:0100447 ATF6-related retinopathy ATF6 retinopathy ATF6-related retinopathy
MONDO:0700091 ring chromosome disorder ring chromosome anomaly ring chromosome disorder
MONDO:0014851 hypercalcemia, infantile, 2 hypercalcemia, infantile 2 hypercalcemia, infantile, 2
MONDO:0020583 chromosome 17 disorder chromosome 17 abnormality chromosome 17 disorder
MONDO:0044972 eosinophil disorder eosinophil disease eosinophil disorder
MONDO:0019182 inherited obesity monogenic obesity inherited obesity
MONDO:0017901 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
MONDO:0017902 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
MONDO:0018216 Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome 17q21.31 microdeletion syndrome Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome
MONDO:0018675 IgG4-related ophthalmic disorder IgG4-related ophthalmic disease IgG4-related ophthalmic disorder
MONDO:0020595 disorder of retroperitoneum disease of retroperitoneum disorder of retroperitoneum
MONDO:0020715 multiple system atrophy 1, susceptibility to Multiple system atrophy 1, susceptibility to multiple system atrophy 1, susceptibility to
MONDO:0020739 hypercalcemia, infantile, 1 autosomal recessive infantile hypercalcemia 1 hypercalcemia, infantile, 1
MONDO:0044995 parasympathetic nervous system disorder parasympathetic nervous system disease parasympathetic nervous system disorder
MONDO:0022930 Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia dandy-walker malformation with nasopharyngeal teratoma and diaphragmatic hernia Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia
MONDO:0024454 sacral nerve plexus disorder sacral nerve plexus disease sacral nerve plexus disorder
MONDO:0100441 GUCY2D-related dominant retinopathy dominant GUCY2D retinopathy GUCY2D-related dominant retinopathy
MONDO:0032796 hyper-IgE recurrent infection syndrome 4, autosomal recessive hyper-ige recurrent infection syndrome 4, autosomal recessive hyper-IgE recurrent infection syndrome 4, autosomal recessive
MONDO:0100452 RPE65-related dominant retinopathy dominant RPE65 retinopathy RPE65-related dominant retinopathy
MONDO:0040753 latent tuberculosis infection inactive tuberculosis latent tuberculosis infection
MONDO:0044875 coronary microvascular disorder coronary microvascular disease coronary microvascular disorder
MONDO:0044997 midbrain disorder midbrain disease midbrain disorder
MONDO:0044998 carpal region disorder carpal region disease carpal region disorder
MONDO:0100361 lip herpes simplex type 1 infectious disorder lip herpes simplex type 1 infectious disease lip herpes simplex type 1 infectious disorder
MONDO:0100362 lip herpes simplex type 2 infectious disorder lip herpes simplex type 2 infectious disease lip herpes simplex type 2 infectious disorder
MONDO:0100363 genital herpes simplex type 2 infectious disorder genital herpes simplex type 2 infectious disease genital herpes simplex type 2 infectious disorder
MONDO:0100364 genital herpes simplex type 1 infectious disorder genital herpes simplex type 1 infectious disease genital herpes simplex type 1 infectious disorder

Changed definitions

Mondo ID Label Previous release New release
MONDO:0018612 congenital hypothyroidism Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth. A thyroid hormone deficiency present from birth.
MONDO:0000761 syndrome caused by partial chromosomal deletion A chromosomal disorder consisting of the absence of a part of a chromosome.
MONDO:0000762 syndrome caused by partial chromosomal duplication A chromosomal disorder consisting of the presence of a part of a chromosome in more copies than in a regular genome.
MONDO:0003940 Kummell disease Kummell disease, or avascular necrosis of a vertebral body, presents as vertebral osteonecrosis typically affecting a thoracic vertebra with compression deformity, intravertebral vacuum cleft, and exaggerated kyphosis weeks to months after a minor traumatic injury. A disease that presents as vertebral osteonecrosis typically affecting a thoracic vertebra with compression deformity, intravertebral vacuum cleft, and exaggerated kyphosis weeks to months after a minor traumatic injury.
MONDO:0008982 central areolar choroidal dystrophy Central areolar choroidal dystrophy (CACD) is a hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity. A hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity.
MONDO:0005486 tooth agenesis Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth. A rare developmental dental anomaly in humans characterized by the absence of six or more teeth.
MONDO:0005508 hereditary multiple osteochondromas Multiple osteochondromas (MO) is characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones. A bone neoplasm characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones.
MONDO:0005861 multidrug-resistant tuberculosis Tuberculosis disease that is caused by a multidrug-resistant strain of Mycobacterium tuberculosis. A type of drug-resistant tuberculosis that is resistant to both rifampicin and isoniazid, the two most powerful anti-TB drugs.
MONDO:0041806 drug-resistant tuberculosis Tuberculosis disease caused by Mycobacterium tuberculosis isolate that is resistant to one or more of the antitubercular medications.
MONDO:0007194 familial bicuspid aortic valve Familial bicuspid aortic valve is a rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection). A rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).
MONDO:0019490 progressive familial heart block Familial progressive cardiac conduction defect (PCCD) is a hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death. A hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death.
MONDO:0007245 cafe au lait spots, multiple Neurofibromatosis type 6 (NF6), also referred as cafe-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several cafe-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder. A cutaneous disorder characterized by the presence of several cafe-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder.
MONDO:0008947 bilateral striopallidodentate calcinosis Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration. A basal ganglia disease characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.
MONDO:0007295 childhood epilepsy with centrotemporal spikes Rolandic epilepsy (RE) is a focal childhood epilepsy characterized by seizures consisting of unilateral facial sensory-motor symptoms, with electroencephalogram (EEG) showing sharp biphasic waves over the rolandic region. It is an age-related epilepsy, with excellent outcome. A childhood-onset epilepsy syndrom that is characterized by onset of seizures between 3 and 14 years (peak 8-9 years) that usually resolve by age 13 years, but can occasionally occur up to age 18 years of age. Both sexes are affected. Antecedent, birth and neonatal history is normal. A history of febrile seizure (in 5-15%) may be seen. A history of Panayiotopoulos syndrome may be present in a very small number of cases. Neurological exam and head size is normal. Development and cognition prior to onset of seizures is normal. During the course of the active epilepsy, behavioral and neuropsychological deficits may be found, particularly in language and executive functioning. These deficits improve when seizures remit.
MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars. A form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.
MONDO:0007617 Coffin-Siris syndrome 1 Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1B gene.
MONDO:0017778 lamellar ichthyosis Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma. A keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma.
MONDO:0008017 hereditary mucoepithelial dysplasia Hereditary mucoepithelial dysplasia (HMD) is a condition that affects the skin, hair, mucosa (areas ofthe body that are lined with mucus), gums (gingiva), eyes, nose and lungs. Symptoms typically begin in infancy and may include development of cataracts (clouding of the eye lens); blindness; hair loss (alopecia); abnormal changes to the perineum (the area between the anus and external genitalia); and small, skin-colored bumps (keratosis pilaris). Terminal lung disease has also been reported. The cause of HMD is thought to be an abnormality in desmosomes and gap junctions, which are structures involved in cell-to-cell contact. HMD typically follows autosomal dominant inheritance, but has occurred sporadically (in an individual who has no family history of the condition). Treatment typically focuses on individual symptoms of the condition. A condition that affects the skin, hair, mucosa (areas ofthe body that are lined with mucus), gums (gingiva), eyes, nose and lungs. Symptoms typically begin in infancy and may include development of cataracts (clouding of the eye lens); blindness; hair loss (alopecia); abnormal changes to the perineum (the area between the anus and external genitalia); and small, skin-colored bumps (keratosis pilaris). Terminal lung disease has also been reported. The cause of HMD is thought to be an abnormality in desmosomes and gap junctions, which are structures involved in cell-to-cell contact. HMD typically follows autosomal dominant inheritance, but has occurred sporadically (in an individual who has no family history of the condition). Treatment typically focuses on individual symptoms of the condition.
MONDO:0009710 Thomsen and Becker disease Myotonia congenita is characterised by slow muscle relaxation associated with hyperexcitation of the muscle fibres. A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).
MONDO:0008134 autosomal dominant optic atrophy, classic form Autosomal dominant optic atrophy (ADOA) is one of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss during the first decade of life, associated with optic disc pallor, visual field and color vision defects. One of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss during the first decade of life, associated with optic disc pallor, visual field and color vision defects.
MONDO:0012215 myofibrillar myopathy 3 Distal myotilinopathy is a rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years. A rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.
MONDO:0008551 thoracolaryngopelvic dysplasia Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis. A short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis.
MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS); all exhibiting progressive visual impairment as well as variable cerebral dysfunction. An inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS); all exhibiting progressive visual impairment as well as variable cerebral dysfunction.
MONDO:0017774 hypobetalipoproteinemia Hypobetalipoproteinemia (HBL) constitutes a group of lipoprotein metabolism disorders that are characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol. A group of lipoprotein metabolism disorders that are characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol.
MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis. An inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.
MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classic 21-OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia. The most common form of congenital adrenal hyperplasia (CAH), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia.
MONDO:0008863 sitosterolemia Sitosterolemia is a rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes. A rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes.
MONDO:0016575 primary ciliary dyskinesia Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy). A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy).
MONDO:0009019 congenital hereditary endothelial dystrophy of cornea Congenital hereditary endothelial dystrophy II (CHED II) is a rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision. A rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision.
MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency Congenital enteropathy due to enteropeptidase deficiency is a rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated. A rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated.
MONDO:0019155 Leydig cell hypoplasia Leydig cell hypoplasia (LCH) is a condition in males that affects sexual development. It is characterized by underdevelopment of the Leydig cells, which are cells in the testes that secrete male sex hormones (androgens) and are important for male sexual development. Individuals with LCH have a typical male genetic make-up (46, XY), but due to lowered levels of androgens, may have a range of genital (reproductive organ) differences. Individuals with LCH may have a small penis (micropenis),the opening of the urethra may be located on the underside of the penis (hypospadias), or the scrotum may be divided into two halves (bifid scrotum). Given these differences in development, the external genitalia may not appear clearly male or female (ambiguous genitalia). Some individuals with LCH can have female external genitalia and small testes that have not descended and are located in the pelvis, abdomen, or groin. This may be referred to as type 1, whereas less severe cases might be called type 2. LCH is inherited in an autosomal recessive manner and is caused by mutations in the LHCGR gene.Although there is no specific treatment or cure for LCH, there may be ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person. A condition in males that affects sexual development. It is characterized by underdevelopment of the Leydig cells, which are cells in the testes that secrete male sex hormones (androgens) and are important for male sexual development. Individuals with LCH have a typical male genetic make-up (46, XY), but due to lowered levels of androgens, may have a range of genital (reproductive organ) differences. Individuals with LCH may have a small penis (micropenis),the opening of the urethra may be located on the underside of the penis (hypospadias), or the scrotum may be divided into two halves (bifid scrotum). Given these differences in development, the external genitalia may not appear clearly male or female (ambiguous genitalia). Some individuals with LCH can have female external genitalia and small testes that have not descended and are located in the pelvis, abdomen, or groin. This may be referred to as type 1, whereas less severe cases might be called type 2. LCH is inherited in an autosomal recessive manner and is caused by mutations in the LHCGR gene.Although there is no specific treatment or cure for LCH, there may be ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person.
MONDO:0019306 congenital non-bullous ichthyosiform erythroderma Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body. A variant of autosomal recessive congenital ichthyosis (ARCI), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body.
MONDO:0009477 Stromme syndrome Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016). An autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).
MONDO:0009479 Johanson-Blizzard syndrome Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability. A multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.
MONDO:0018921 Meckel syndrome Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia. A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.
MONDO:0009666 holocarboxylase synthetase deficiency Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma. A life-threatening early-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma.
MONDO:0009669 spinal muscular atrophy, type 1 Proximal spinal muscular atrophy type 1 (SMA1) is a severe infantile form of proximal spinal muscular atrophy characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. A severe infantile form of proximal spinal muscular atrophy characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.
MONDO:0009720 Keipert syndrome Keipert syndrome is a rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis. A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis.
MONDO:0009738 sialidosis type 2 Sialidosis type 2 (ST-2) is a rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations. A rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations.
MONDO:0009856 Peters plus syndrome Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye characterized by a variable phenotype including Peters anomaly and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism. An autosomal recessively inherited syndromic developmental defect of the eye characterized by a variable phenotype including Peters anomaly and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism.
MONDO:0018251 glycogen storage disease due to phosphorylase kinase deficiency Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency. A group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency.
MONDO:0009945 pyridoxine-dependent epilepsy Pyridoxine-dependent epilepsy (PDE) is a rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6). A rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6).
MONDO:0018883 Berardinelli-Seip congenital lipodystrophy Berardinelli-Seip congenital lipodystrophy (BSCL) is characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance. A lipodystrophy characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance.
MONDO:0010123 absent thumb-short stature-immunodeficiency syndrome Absent thumb-short stature-immunodeficiency is an exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978.
MONDO:0010622 recessive X-linked ichthyosis Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin. A genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin.
MONDO:0010407 intellectual disability, X-linked syndromic, Turner type X-linked intellectual disability, Turner type is characterised by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant. An X-linked syndromic intellectual disability characterised by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant.
MONDO:0010524 X-linked sideroblastic anemia with ataxia X-linked sideroblastic anemia and ataxia (XLSA-A) is a rare syndromic, inherited form of sideroblastic anemia in which the cause of the disease is a mutation in the ABCB7 gene and is characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia. A rare syndromic, inherited form of sideroblastic anemia in which the cause of the disease is a mutation in the ABCB7 gene and is characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia.
MONDO:0010602 hemophilia A Hemophilia A is the most common form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency. The most common form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency.
MONDO:0010610 holoprosencephaly-hypokinesia-congenital contractures syndrome Holoprosencephaly-hypokinesia syndrome is an extremely rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. An X-linked recessive inheritance has been suggested. An extremely rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. An X-linked recessive inheritance has been suggested.
MONDO:0015947 inherited ichthyosis An instance of ichthyosis (disease) that is caused by an inherited modification of the individual's genome. Mendelian disorders of cornification affecting all or most of integument characterized by hyperkeratosis and/or scaling, caused by an inherited modification of the individual's genome.
MONDO:0010626 hyper-IgM syndrome type 1 Hyper IgM Syndrome Type 1 (HIGM-1) is the X-linked variant of the Hyper-IgM syndrome. The affected individuals are virtually always male, because males only have one X chromosome, received from their mothers. Their mothers are not symptomatic, even though they are carriers of the allele, because the trait is recessive. Male offspring of these women have a 50% chance of inheriting their mother's mutant allele. The X-linked variant of the Hyper-IgM syndrome. The affected individuals are virtually always male, because males only have one X chromosome, received from their mothers. Their mothers are not symptomatic, even though they are carriers of the allele, because the trait is recessive. Male offspring of these women have a 50% chance of inheriting their mother's mutant allele.
MONDO:0010713 properdin deficiency, X-linked Properdin deficiency is a rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease. A rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease.
MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome Pachygyria-intellectual disability-epilepsy syndrome is a rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated. A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated.
MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome Autosomal recessive brachyolmia-amelogenesis imperfecta syndrome is an exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition. An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition.
MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome Radioulnar synostosis-microcephaly-scoliosis syndrome, also known as GuiffrC)-Tsukahara syndrome, is an extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit. An extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit.
MONDO:0011396 loricrin keratoderma Keratoderma hereditarium mutilans with ichthyosis is a diffuse palmoplantar keratoderma, characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission. A diffuse palmoplantar keratoderma, characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission.
MONDO:0011431 MASS syndrome MASS (Mitral valve prolapse, Aortic enlargement, Skin and Skeletal findings) syndrome is a genetic disorder of connective tissue caused by mutations in the FBN1 gene. Connective tissue is the material between the cells of the body that gives tissues form and strength. Symptoms include mitral valve prolapse, nearsightedness, borderline and non-progressive aortic enlargement, and skin and skeletal findings that overlap with those seen in Marfan syndrome. Treatment is based on the individuals symptoms. A genetic disorder of connective tissue caused by mutations in the FBN1 gene. Connective tissue is the material between the cells of the body that gives tissues form and strength. Symptoms include mitral valve prolapse, nearsightedness, borderline and non-progressive aortic enlargement, and skin and skeletal findings that overlap with those seen in Marfan syndrome. Treatment is based on the individuals symptoms.
MONDO:0012013 Weill-Marchesani syndrome 2, dominant Glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome is characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome. A Weill-Marchesani syndrome characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome.
MONDO:0012104 acquired partial lipodystrophy Acquired partial lipodystrophy, or Barraquer-Simons syndrome, is characterised by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs. A lipodystrophy characterised by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs.
MONDO:0012496 Koolen-de Vries syndrome Monosomy 17q21.31 (17q21.31 microdeletion syndrome) is a chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior. A chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior.
MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy. A rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy.
MONDO:0012682 immunodeficiency 35 Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency in which the cause of the disease is a mutation in the TYK2 gene. Any hereditary predisposition to infections in which the cause of the disease is a mutation in the TYK2 gene.
MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency Glycogen storage disease due to muscle and heart glycogen synthase deficiency is characterised by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase. A glycogen storage disease characterised by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase.
MONDO:0012756 proximal 16p11.2 microdeletion syndrome The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity. A chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.
MONDO:0012883 acute promyelocytic leukemia Acute promyelocytic leukemia (APL) is an aggressive form of acute myeloid leukemia (AML), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells. APL manifests with easy bruising, hemorrhagic diathesis and fatigue. An aggressive form of acute myeloid leukemia (AML), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells. APL manifests with easy bruising, hemorrhagic diathesis and fatigue.
MONDO:0015695 combined immunodeficiency due to CRAC channel dysfunction Combined immunodeficiency (CID) due to Ca2+ release activated Ca2+(CRAC) channel dysfunction is a form of CID characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. It comprises two sub-types that are due to mutations in the ORAI1 and STIM1 genes: CID due to ORAI1 deficiency and CID due to STIM1 deficiency. A form of combined immunodeficiency characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. It comprises two sub-types that are due to mutations in the ORAI1 and STIM1 genes: CID due to ORAI1 deficiency and CID due to STIM1 deficiency.
MONDO:0013400 Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency CLAH due to loss-of-function mutations in the CYP11A1 gene, resulting in decreased or absent activity of the enzyme P450scc, which leads to reduced conversion of cholesterol to pregnenolone, the first step in steroidogenesis. A rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the CYP11A1 gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels.
MONDO:0013800 Ehlers-Danlos syndrome, kyphoscoliotic and deafness type Ehlers-Danlos syndrome, kyphoscoliotic and deafness type is a form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment. A form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.
MONDO:0013865 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia. A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.
MONDO:0013873 IMAGe syndrome IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait. IMAGe syndrome is characterized by the association of intrauterine growth retardation, metaphyseal dysplasia (and short limbs), adrenal hypoplasia congenita, and genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.
MONDO:0013956 mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of MSMD characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections. A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections.
MONDO:0013957 mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-GuC)rin (BCG).. A rare genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guerin (BCG).
MONDO:0014058 facial dysmorphism-immunodeficiency-livedo-short stature syndrome Facial dysmorphism-immunodeficiency-livedo-short stature syndrome is a rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer. A rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer.
MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 Any Ehlers-Danlos syndrome progeroid type in which the cause of the disease is a mutation in the B3GALT6 gene. Any Ehlers-Danlos syndrome, spondylodysplastic type in which the cause of the disease is a mutation in the B3GALT6 gene.
MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM). A genetic variant of Mendelian susceptibility to mycobacterial disease characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM).
MONDO:0014851 hypercalcemia, infantile, 2 Any autosomal recessive infantile hypercalcemia in which the cause of the disease is a mutation in the SLC34A1 gene. Any hypercalcemia, infantile in which the cause of the disease is a mutation in the SLC34A1 gene.
MONDO:0014914 Dias-Logan syndrome Any BAFopathy in which the cause of the disease is a mutation in the BCL11A gene.
MONDO:0020583 chromosome 17 disorder An irregularity in the structure of chromosome 17. Chromosomal disorder in which chromosome 17 is affected.
MONDO:0015629 von Willebrand disease type 2B Type 2B von Willebrand disease (type 2B VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with an increase in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets. This anomaly results in spontaneous binding of high molecular weight VWF multimers to platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and the high molecular weight VWF multimers from the plasma. A subtype of type 2 VWD characterized by a bleeding disorder associated with an increase in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets. This anomaly results in spontaneous binding of high molecular weight VWF multimers to platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and the high molecular weight VWF multimers from the plasma.
MONDO:0015630 von Willebrand disease type 2M Type 2M von Willebrand disease (type 2M VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium in the absence of any deficiency of high molecular weight VWF multimers. A subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium in the absence of any deficiency of high molecular weight VWF multimers.
MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility. A form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.
MONDO:0016299 holoprosencephaly-caudal dysgenesis syndrome Holoprosencephaly-caudal dysgenesis syndrome is a central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia). A central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia).
MONDO:0016522 Kousseff syndrome Kousseff syndrome is characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. A syndrome characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11.
MONDO:0016936 partial trisomy/tetrasomy of chromosome 18 A chromosomal disorder characterized by the presence of extra copy/copies of part of chromosome 18.
MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy. A syndrome characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy.
MONDO:0017802 ovarian fibrothecoma Ovarian fibrothecoma is a rare, benign, sex cord-stromal neoplasm, with a typically unilateral location in the ovary, characterized by mixed features of both fibroma and thecoma. Patients may be asymptomatic or may present with pelvic/abdominal pain and/or distension and, occasionally, with post-menopausal bleeding. Large tumors (>10cm) are often associated with pleural effusion and ascites (the Meigs syndrome triad). A rare, benign, sex cord-stromal neoplasm, with a typically unilateral location in the ovary, characterized by mixed features of both fibroma and thecoma. Patients may be asymptomatic or may present with pelvic/abdominal pain and/or distension and, occasionally, with post-menopausal bleeding. Large tumors (>10cm) are often associated with pleural effusion and ascites (the Meigs syndrome triad).
MONDO:0017901 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFN-gammaR1 deficiency is a genetic variant of MSMD characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM). A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM).
MONDO:0017902 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM). A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM).
MONDO:0017903 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM). A genetic variant of mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM).
MONDO:0018298 multicentric osteolysis-nodulosis-arthropathy spectrum Multicentric osteolysis-nodulosis-arthropathy (MONA) spectrum is a rare genetic chronic skeletal disorder characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations. A rare genetic chronic skeletal disorder characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations.
MONDO:0018301 interstitial cystitis Interstitial cystitis, also known as bladder pain syndrome (IC/BPS), is a rare chronic debilitating urogenital disease characterized by urinary frequency, urgency, and pelvic pain. A rare chronic debilitating urogenital disease characterized by urinary frequency, urgency, and pelvic pain.
MONDO:0018430 partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome is a rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts. A rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts.
MONDO:0018683 acquired ichthyosis A non-hereditary form of ichthyosis characterized by plate-like scales on the legs, arms and occasionally the torso. Noninherited ichthyosis associated with malignancy; autoimmune, inflammatory, nutritional, metabolic, infectious, and neurologic diseases; or medications.
MONDO:0018861 Zellweger-like syndrome without peroxisomal anomalies Zellweger-like syndrome without peroxisomal anomalies is an extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive. An extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive.
MONDO:0018976 schisis association Schisis association describes the combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip/palate, omphalocele and congenital diaphragmatic hernia. These anomalies are associated at a higher frequency than would be expected with random combination rates. The combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip/palate, omphalocele and congenital diaphragmatic hernia. These anomalies are associated at a higher frequency than would be expected with random combination rates.
MONDO:0019484 hypothalamic hamartomas with gelastic seizures Hypothalamic hamartomas with gelastic seizures is a rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty. A rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty.
MONDO:0019604 acquired monoclonal Ig light chain-associated Fanconi syndrome Fanconi syndrome (FS) is a generalized disorder of renal proximal tubule function. In adults over 50 years of age, FS is frequently related to the urinary secretion of a monoclonal immunoglobulin (Ig) light chain (LC), almost always of the kappa isotype. A rare monoclonalgammopathy characterized by renal proximal tubule dysfunction secondary to monoclonal kappa light chain deposits in proximal tubular cells. Clinical presentation is with variable chronic kidney disease, low molecular weight proteinuria, aminoaciduria, hyperphosphaturia, uricosuria, bicarbonaturia, and non-diabetic glycosuria. Renal phosphate and urate wasting may cause hypophosphatemia and hypouricaemia.
MONDO:0020603 X-linked chondrodysplasia punctata 2 X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature. A rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.
MONDO:0021804 silicotuberculosis Pulmonary or extrapulmonary infection caused by MYCOBACTERIUM TUBERCULOSIS or nontuberculous mycobacteria in a patient with silicosis. Tuberculosis caused by the infection of Mycobacterium tuberculosis in patients with silicosis (that is caused by inhalation of silica dust particles). The risk of a patient with silicosis developing pulmonary tuberculosis and extra-pulmonary tuberculosis is higher than in healthy population.
MONDO:0023153 tuberculous ascites A type of abdominal tuberculosis that is characterized by accumulation of fluid in the abdomen, a swollen abdomen, and slightly raised tubercles of 1–2 mm all over the peritoneum.
MONDO:0032702 Coffin-Siris syndrome 8 Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCC2 gene.
MONDO:0032770 intellectual developmental disorder with severe speech and ambulation defects Any BAFopathy in which the cause of the disease is a mutation in the ACTL6B gene.
MONDO:0033492 Coffin-Siris syndrome 6 Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID2 gene.
MONDO:0040753 latent tuberculosis infection Mycobacterium tuberculosis infection that does not induce infectious expression of the disease in the affected person, although it can cause continuous immune response generated towards TB antigens; person having LTBI are asymptomatic and acting as a reservoir of active tuberculosis tuberculosis cases and Mycobacterium tuberculosis and run a 5-10% risk of reactivating tuberculosis throughout their lives.
MONDO:0054831 Coffin-Siris syndrome 7 Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the DPF2 gene.
MONDO:0060763 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities Any BAFopathy in which the cause of the disease is a mutation in the BCL11B gene.

Obsolete terms

Mondo ID Label
MONDO:0007749 obsolete autosomal recessive infantile hypercalcemia
MONDO:0007821 obsolete immunoglobulin switch sequences
MONDO:0009278 obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
MONDO:0009410 obsolete Addison disease
MONDO:0010330 obsolete primary ciliary dyskinesia-retinitis pigmentosa syndrome
MONDO:0016896 obsolete partial deletion of the short arm of chromosome 18
MONDO:0016900 obsolete partial deletion of the long arm of chromosome 1
MONDO:0016916 obsolete partial deletion of the long arm of chromosome 18
MONDO:0017848 obsolete partial deletion of the short arm of chromosome 12
MONDO:0018104 obsolete Torg-Winchester syndrome
MONDO:0018619 obsolete hyperinsulinemic hypoglycaemia
MONDO:0022200 obsolete treatment for disease
MONDO:0022201 obsolete has treatment by surgery
MONDO:0026782 obsolete chondrodysplasia punctata 2, X-linked dominant
MONDO:0100088 obsolete late-onset familial alzheimer disease
MONDO:0100106 obsolete neonatal epileptic encephalopathy

New obsoletion candidates

Mondo ID Label
MONDO:0044965 abdominal and pelvic region disorder
MONDO:0044967 limb disorder
MONDO:0000651 thoracic disorder
MONDO:0021059 head or neck disorder/disorder
MONDO:0006588 nonepidermolytic palmoplantar keratoderma
MONDO:0016999 X chromosome number anomaly
MONDO:0007139 Antipyrine metabolism
MONDO:0007141 antiviral state repressor, regulator of
MONDO:0016998 complex chromosomal rearrangement
MONDO:0007317 chlorpropamide-alcohol flushing
MONDO:0007331 cleft chin
MONDO:0007532 Electroencephalographic peculiarity: occipital slow beta waves
MONDO:0007591 facial hypertrichosis
MONDO:0007622 flood factor deficiency
MONDO:0007645 gastric sneezing
MONDO:0007692 hairy ears
MONDO:0007810 autosomal dominant ichthyosis vulgaris
MONDO:0007822 incisors, long upper central
MONDO:0007823 insulin receptors, familial increase 1N
MONDO:0044988 hip region disorder
MONDO:0008068 navicular bone, accessory
MONDO:0008110 ocular dominance
MONDO:0008326 pseudocholinesterase, increase in plasma level of
MONDO:0008351 pupil, egg-shaped
MONDO:0008405 scapula, contour of vertebral border of
MONDO:0008432 ketone compounds, ability to smell
MONDO:0019683 syndactyly type 2
MONDO:0008548 theophylline Biotransformation
MONDO:0008616 twinning due to superfetation
MONDO:0008625 urate-binding globulin, decrease 1N
MONDO:0008677 widow's peak
MONDO:0009125 dopamine beta-hydroxylase, plasma, thermolability of
MONDO:0009250 fructose utilization
MONDO:0009553 Plasmodium falciparum blood infection level
MONDO:0009829 pallidal degeneration, progressive, with retinitis pigmentosa
MONDO:0009930 pulmonary arteriovenous malformation
MONDO:0100243 inherited paroxysmal nocturnal hemoglobinuria
MONDO:0010705 ouabain resistance
MONDO:0010994 micromelic dwarfism, Fryns type
MONDO:0011554 deafness, nonsyndromic, modifier 1
MONDO:0011692 basal ganglia calcification, idiopathic, 2
MONDO:0020057 uniparental disomy of paternal origin
MONDO:0012501 mutagen sensitivity
MONDO:0013538 alpha-2-macroglobulin deficiency
MONDO:0013586 Chitotriosidase deficiency
MONDO:0013799 efavirenz, poor metabolism of
MONDO:0014053 stomatin-like protein-2, hyperphosphorylation of
MONDO:0014253 autoimmune lymphoproliferative syndrome type 3
MONDO:0018186 ring chromosome
MONDO:0014826 nucleoside diphosphate-linked moiety X Motif 15 deficiency
MONDO:0017006 X and Y chromosomal anomaly
MONDO:0015153 autosomal monosomy
MONDO:0017002 polysomy of X chromosome
MONDO:0020061 chromosome Y structural anomaly
MONDO:0016963 partial duplication of the long arm of chromosome 13
MONDO:0017005 Y chromosome number anomaly
MONDO:0020056 uniparental disomy of maternal origin
MONDO:0016946 partial trisomy of the short arm of chromosome 9
MONDO:0017011 uniparental disomy of chromosome X
MONDO:0020054 partial autosomal monosomy
MONDO:0016962 partial duplication of the long arm of chromosome 11
MONDO:0020059 gonosome number anomaly
MONDO:0020062 chromosome X structural anomaly
MONDO:0017412 2q31.1 microduplication syndrome
MONDO:0020055 autosomal uniparental disomy
MONDO:0018649 cerebral visual impairment
MONDO:0020053 total autosomal monosomy
MONDO:0020050 autosomal trisomy
MONDO:0020060 gonosome structural anomaly
MONDO:0020734 erythrocyte AMP deaminase deficiency
MONDO:0022109 catatrichy
MONDO:0022794 chromosome 8 deletion
MONDO:0026768 warfarin sensitivity, X-linked
MONDO:0030032 chromosome 17q11.2 duplication syndrome, 1.4-mb
MONDO:0033552 blood group, lewis system
MONDO:0044978 disease of cell nucleus
MONDO:0060593 actn3 deficiency
MONDO:0100245 acquired paroxysmal nocturnal hemoglobinuria

Terms that were previously candidate for obsoletion and are now not anymore

Mondo ID Label
MONDO:0044965 abdominal and pelvic region disorder
MONDO:0044967 limb disorder
MONDO:0000651 thoracic disorder
MONDO:0021059 head or neck disorder/disorder
MONDO:0006588 nonepidermolytic palmoplantar keratoderma
MONDO:0016999 X chromosome number anomaly
MONDO:0007139 Antipyrine metabolism
MONDO:0007141 antiviral state repressor, regulator of
MONDO:0016998 complex chromosomal rearrangement
MONDO:0007317 chlorpropamide-alcohol flushing
MONDO:0007331 cleft chin
MONDO:0007532 Electroencephalographic peculiarity: occipital slow beta waves
MONDO:0007591 facial hypertrichosis
MONDO:0007622 flood factor deficiency
MONDO:0007645 gastric sneezing
MONDO:0007692 hairy ears
MONDO:0007810 autosomal dominant ichthyosis vulgaris
MONDO:0007822 incisors, long upper central
MONDO:0007823 insulin receptors, familial increase 1N
MONDO:0044988 hip region disorder
MONDO:0008068 navicular bone, accessory
MONDO:0008110 ocular dominance
MONDO:0008326 pseudocholinesterase, increase in plasma level of
MONDO:0008351 pupil, egg-shaped
MONDO:0008405 scapula, contour of vertebral border of
MONDO:0008432 ketone compounds, ability to smell
MONDO:0019683 syndactyly type 2
MONDO:0008548 theophylline Biotransformation
MONDO:0008616 twinning due to superfetation
MONDO:0008625 urate-binding globulin, decrease 1N
MONDO:0008677 widow's peak
MONDO:0009125 dopamine beta-hydroxylase, plasma, thermolability of
MONDO:0009250 fructose utilization
MONDO:0009553 Plasmodium falciparum blood infection level
MONDO:0009829 pallidal degeneration, progressive, with retinitis pigmentosa
MONDO:0009930 pulmonary arteriovenous malformation
MONDO:0100243 inherited paroxysmal nocturnal hemoglobinuria
MONDO:0010705 ouabain resistance
MONDO:0010994 micromelic dwarfism, Fryns type
MONDO:0011554 deafness, nonsyndromic, modifier 1
MONDO:0011692 basal ganglia calcification, idiopathic, 2
MONDO:0020057 uniparental disomy of paternal origin
MONDO:0012501 mutagen sensitivity
MONDO:0013538 alpha-2-macroglobulin deficiency
MONDO:0013586 Chitotriosidase deficiency
MONDO:0013799 efavirenz, poor metabolism of
MONDO:0014053 stomatin-like protein-2, hyperphosphorylation of
MONDO:0014253 autoimmune lymphoproliferative syndrome type 3
MONDO:0018186 ring chromosome
MONDO:0014826 nucleoside diphosphate-linked moiety X Motif 15 deficiency
MONDO:0017006 X and Y chromosomal anomaly
MONDO:0015153 autosomal monosomy
MONDO:0017002 polysomy of X chromosome
MONDO:0020061 chromosome Y structural anomaly
MONDO:0016963 partial duplication of the long arm of chromosome 13
MONDO:0017005 Y chromosome number anomaly
MONDO:0020056 uniparental disomy of maternal origin
MONDO:0016946 partial trisomy of the short arm of chromosome 9
MONDO:0017011 uniparental disomy of chromosome X
MONDO:0020054 partial autosomal monosomy
MONDO:0016962 partial duplication of the long arm of chromosome 11
MONDO:0020059 gonosome number anomaly
MONDO:0020062 chromosome X structural anomaly
MONDO:0017412 2q31.1 microduplication syndrome
MONDO:0020055 autosomal uniparental disomy
MONDO:0018649 cerebral visual impairment
MONDO:0020053 total autosomal monosomy
MONDO:0020050 autosomal trisomy
MONDO:0020060 gonosome structural anomaly
MONDO:0020734 erythrocyte AMP deaminase deficiency
MONDO:0022109 catatrichy
MONDO:0022794 chromosome 8 deletion
MONDO:0026768 warfarin sensitivity, X-linked
MONDO:0030032 chromosome 17q11.2 duplication syndrome, 1.4-mb
MONDO:0033552 blood group, lewis system
MONDO:0044978 disease of cell nucleus
MONDO:0060593 actn3 deficiency
MONDO:0100245 acquired paroxysmal nocturnal hemoglobinuria
ca54f69
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Overview:

  • Number of new terms: 7
  • Number of changed labels: 201
  • Number of changed definitions: 64
  • Number obsoleted terms: 36
  • Number of new obsoletion candidates: 12
  • Number of terms who were previously candidate for obsoletion and are now not anymore: 4

New terms

Mondo ID Label Definition
MONDO:0100457 achalasia, familial esophageal An instance of achalsia that is caused by an inherited genomic modification in an individual.
MONDO:0100458 MECOM-associated syndrome Any syndrome in which the cause of the disease is a mutation in the MECOM gene. MECOM-associated syndrome has a variable phenotypic pattern, ranging from isolated radioulnar synostosis with no or mild hematological involvement to severe bone marrow failure without obvious skeletal abnormalities. The clinical picture can also include clinodactyly, cardiac and renal malformations, B-cell deficiency, amegakaryocytic thrombocytopenia, and presenile hearing loss.
MONDO:0100461 gastrointestinal defects and immunodeficiency syndrome A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood.
MONDO:0100462 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans A rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.
MONDO:0100466 butterfly-shaped pigment dystrophy A patterned dystrophy of the retinal pigment epithelium characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age.
MONDO:0100467 preeclampsia/eclampsia 1
MONDO:0100469 anosmia, isolated congenital, X-linked X-linked form of anosmia, isolated congenital.

Changed terms

Changed labels

Mondo ID Label Previous release New release
MONDO:0700066 myopathy caused by variation in FKRP myopathy caused by varation in FKRP myopathy caused by variation in FKRP
MONDO:0700068 myopathy caused by variation in POMGNT1 myopathy caused by varation in POMGNT1 myopathy caused by variation in POMGNT1
MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 autosomal recessive nonsyndromic deafness 5 autosomal recessive nonsyndromic hearing loss 5
MONDO:0019588 hearing loss, autosomal recessive deafness, autosomal recessive hearing loss, autosomal recessive
MONDO:0002145 difference of sexual differentiation sex differentiation disease difference of sexual differentiation
MONDO:0019589 syndromic genetic hearing loss syndromic genetic deafness syndromic genetic hearing loss
MONDO:0007424 autosomal dominant nonsyndromic hearing loss 1 autosomal dominant nonsyndromic deafness 1 autosomal dominant nonsyndromic hearing loss 1
MONDO:0019587 autosomal dominant nonsyndromic hearing loss autosomal dominant nonsyndromic deafness autosomal dominant nonsyndromic hearing loss
MONDO:0007850 autosomal dominant keratitis-ichthyosis-hearing loss syndrome autosomal dominant keratitis-ichthyosis-deafness syndrome autosomal dominant keratitis-ichthyosis-hearing loss syndrome
MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) neuronal ceroid lipofuscinosis 4B ceroid lipofuscinosis, neuronal, 4 (Kufs type)
MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) neuronal ceroid lipofuscinosis 4A ceroid lipofuscinosis, neuronal, 6B (Kufs type)
MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome
MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A autosomal recessive nonsyndromic deafness 1A autosomal recessive nonsyndromic hearing loss 1A
MONDO:0009090 hearing loss, sensorineural, autosomal-mitochondrial type deafness, sensorineural, autosomal-mitochondrial type hearing loss, sensorineural, autosomal-mitochondrial type
MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss mitochondrial non-syndromic sensorineural deafness mitochondrial non-syndromic sensorineural hearing loss
MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome Hirschsprung disease-deafness-polydactyly syndrome Hirschsprung disease-hearing loss-polydactyly syndrome
MONDO:0700070 myopathy caused by variation in POMT1 myopathy caused by varation in POMT1 myopathy caused by variation in POMT1
MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss ichthyosiform erythroderma, corneal involvement, and deafness ichthyosiform erythroderma, corneal involvement, and hearing loss
MONDO:0700067 myopathy caused by variation in FKTN myopathy caused by varation in FKTN myopathy caused by variation in FKTN
MONDO:0010228 hearing loss, X-linked 3 deafness, X-linked 3 hearing loss, X-linked 3
MONDO:0019586 X-linked nonsyndromic hearing loss X-linked nonsyndromic deafness X-linked nonsyndromic hearing loss
MONDO:0010238 hearing loss, X-linked 4 deafness, X-linked 4 hearing loss, X-linked 4
MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss X-linked hereditary sensory and autonomic neuropathy with deafness X-linked hereditary sensory and autonomic neuropathy with hearing loss
MONDO:0010403 albinism-hearing loss syndrome albinism-deafness syndrome albinism-hearing loss syndrome
MONDO:0010484 hearing loss, X-linked 6 deafness, X-linked 6 hearing loss, X-linked 6
MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher X-linked mixed deafness with perilymphatic gusher X-linked mixed hearing loss with perilymphatic gusher
MONDO:0010577 hearing loss, X-linked 1 deafness, X-linked 1 hearing loss, X-linked 1
MONDO:0010764 hearing loss, Y-linked 1 deafness, Y-linked 1 hearing loss, Y-linked 1
MONDO:0016297 prelingual non-syndromic genetic hearing loss prelingual non-syndromic genetic deafness prelingual non-syndromic genetic hearing loss
MONDO:0016298 postlingual non-syndromic genetic hearing loss postlingual non-syndromic genetic deafness postlingual non-syndromic genetic hearing loss
MONDO:0010799 aminoglycoside-induced hearing loss aminoglycoside-induced deafness aminoglycoside-induced hearing loss
MONDO:0010807 autosomal recessive nonsyndromic hearing loss 2 autosomal recessive nonsyndromic deafness 2 autosomal recessive nonsyndromic hearing loss 2
MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A autosomal dominant nonsyndromic deafness 2A autosomal dominant nonsyndromic hearing loss 2A
MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 autosomal recessive nonsyndromic deafness 3 autosomal recessive nonsyndromic hearing loss 3
MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A autosomal dominant nonsyndromic deafness 4A autosomal dominant nonsyndromic hearing loss 4A
MONDO:0010918 epilepsy, idiopathic generalized, susceptibility to, 1 EIG1 epilepsy, idiopathic generalized, susceptibility to, 1
MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 autosomal recessive nonsyndromic deafness 4 autosomal recessive nonsyndromic hearing loss 4
MONDO:0010963 autosomal dominant nonsyndromic hearing loss 6 autosomal dominant nonsyndromic deafness 6 autosomal dominant nonsyndromic hearing loss 6
MONDO:0010965 autosomal recessive nonsyndromic hearing loss 6 autosomal recessive nonsyndromic deafness 6 autosomal recessive nonsyndromic hearing loss 6
MONDO:0010967 autosomal recessive nonsyndromic hearing loss 7 autosomal recessive nonsyndromic deafness 7 autosomal recessive nonsyndromic hearing loss 7
MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 autosomal dominant nonsyndromic deafness 5 autosomal dominant nonsyndromic hearing loss 5
MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 autosomal recessive nonsyndromic deafness 9 autosomal recessive nonsyndromic hearing loss 9
MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 autosomal recessive nonsyndromic deafness 8 autosomal recessive nonsyndromic hearing loss 8
MONDO:0011031 autosomal dominant nonsyndromic hearing loss 10 autosomal dominant nonsyndromic deafness 10 autosomal dominant nonsyndromic hearing loss 10
MONDO:0011032 autosomal dominant nonsyndromic hearing loss 11 autosomal dominant nonsyndromic deafness 11 autosomal dominant nonsyndromic hearing loss 11
MONDO:0011058 autosomal dominant nonsyndromic hearing loss 9 autosomal dominant nonsyndromic deafness 9 autosomal dominant nonsyndromic hearing loss 9
MONDO:0011067 autosomal recessive nonsyndromic hearing loss 12 autosomal recessive nonsyndromic deafness 12 autosomal recessive nonsyndromic hearing loss 12
MONDO:0011074 autosomal dominant nonsyndromic hearing loss 7 autosomal dominant nonsyndromic deafness 7 autosomal dominant nonsyndromic hearing loss 7
MONDO:0011102 autosomal dominant nonsyndromic hearing loss 12 autosomal dominant nonsyndromic deafness 12 autosomal dominant nonsyndromic hearing loss 12
MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A autosomal dominant nonsyndromic deafness 3A autosomal dominant nonsyndromic hearing loss 3A
MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A neuronal ceroid lipofuscinosis 6 ceroid lipofuscinosis, neuronal, 6A
MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 autosomal dominant nonsyndromic deafness 13 autosomal dominant nonsyndromic hearing loss 13
MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 autosomal recessive nonsyndromic deafness 15 autosomal recessive nonsyndromic hearing loss 15
MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A autosomal recessive nonsyndromic deafness 18A autosomal recessive nonsyndromic hearing loss 18A
MONDO:0011226 autosomal dominant nonsyndromic hearing loss 15 autosomal dominant nonsyndromic deafness 15 autosomal dominant nonsyndromic hearing loss 15
MONDO:0011245 ichthyosis, hystrix-like, with hearing loss ichthyosis, hystrix-like, with deafness ichthyosis, hystrix-like, with hearing loss
MONDO:0011279 autosomal recessive nonsyndromic hearing loss 17 autosomal recessive nonsyndromic deafness 17 autosomal recessive nonsyndromic hearing loss 17
MONDO:0011286 autosomal recessive nonsyndromic hearing loss 13 autosomal recessive nonsyndromic deafness 13 autosomal recessive nonsyndromic hearing loss 13
MONDO:0011350 autosomal dominant nonsyndromic hearing loss 17 autosomal dominant nonsyndromic deafness 17 autosomal dominant nonsyndromic hearing loss 17
MONDO:0011351 autosomal recessive nonsyndromic hearing loss 21 autosomal recessive nonsyndromic deafness 21 autosomal recessive nonsyndromic hearing loss 21
MONDO:0011360 autosomal recessive nonsyndromic hearing loss 14 autosomal recessive nonsyndromic deafness 14 autosomal recessive nonsyndromic hearing loss 14
MONDO:0011364 autosomal recessive nonsyndromic hearing loss 16 autosomal recessive nonsyndromic deafness 16 autosomal recessive nonsyndromic hearing loss 16
MONDO:0011389 autosomal dominant nonsyndromic hearing loss 16 autosomal dominant nonsyndromic deafness 16 autosomal dominant nonsyndromic hearing loss 16
MONDO:0011392 autosomal recessive nonsyndromic hearing loss 20 autosomal recessive nonsyndromic deafness 20 autosomal recessive nonsyndromic hearing loss 20
MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 autosomal dominant nonsyndromic deafness 20 autosomal dominant nonsyndromic hearing loss 20
MONDO:0011519 autosomal dominant nonsyndromic hearing loss 23 autosomal dominant nonsyndromic deafness 23 autosomal dominant nonsyndromic hearing loss 23
MONDO:0011553 autosomal recessive nonsyndromic hearing loss 26 autosomal recessive nonsyndromic deafness 26 autosomal recessive nonsyndromic hearing loss 26
MONDO:0011568 autosomal dominant nonsyndromic hearing loss 25 autosomal dominant nonsyndromic deafness 25 autosomal dominant nonsyndromic hearing loss 25
MONDO:0011602 autosomal recessive nonsyndromic hearing loss 27 autosomal recessive nonsyndromic deafness 27 autosomal recessive nonsyndromic hearing loss 27
MONDO:0011625 autosomal dominant nonsyndromic hearing loss 18 autosomal dominant nonsyndromic deafness 18 autosomal dominant nonsyndromic hearing loss 18
MONDO:0011657 autosomal dominant nonsyndromic hearing loss 24 autosomal dominant nonsyndromic deafness 24 autosomal dominant nonsyndromic hearing loss 24
MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 autosomal dominant nonsyndromic deafness 22 autosomal dominant nonsyndromic hearing loss 22
MONDO:0011673 autosomal dominant nonsyndromic hearing loss 30 autosomal dominant nonsyndromic deafness 30 autosomal dominant nonsyndromic hearing loss 30
MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 autosomal dominant nonsyndromic deafness 36 autosomal dominant nonsyndromic hearing loss 36
MONDO:0011761 autosomal dominant nonsyndromic hearing loss 21 autosomal dominant nonsyndromic deafness 21 autosomal dominant nonsyndromic hearing loss 21
MONDO:0011762 autosomal recessive nonsyndromic hearing loss 22 autosomal recessive nonsyndromic deafness 22 autosomal recessive nonsyndromic hearing loss 22
MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 autosomal recessive nonsyndromic deafness 31 autosomal recessive nonsyndromic hearing loss 31
MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 autosomal recessive nonsyndromic deafness 30 autosomal recessive nonsyndromic hearing loss 30
MONDO:0011799 autosomal recessive nonsyndromic hearing loss 33 autosomal recessive nonsyndromic deafness 33 autosomal recessive nonsyndromic hearing loss 33
MONDO:0011832 autosomal dominant nonsyndromic hearing loss 44 autosomal dominant nonsyndromic deafness 44 autosomal dominant nonsyndromic hearing loss 44
MONDO:0011893 autosomal dominant nonsyndromic hearing loss 52 autosomal dominant nonsyndromic deafness 52 autosomal dominant nonsyndromic hearing loss 52
MONDO:0011912 autosomal recessive nonsyndromic hearing loss 37 autosomal recessive nonsyndromic deafness 37 autosomal recessive nonsyndromic hearing loss 37
MONDO:0011920 autosomal dominant nonsyndromic hearing loss 48 autosomal dominant nonsyndromic deafness 48 autosomal dominant nonsyndromic hearing loss 48
MONDO:0011991 autosomal recessive nonsyndromic hearing loss 38 autosomal recessive nonsyndromic deafness 38 autosomal recessive nonsyndromic hearing loss 38
MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 autosomal dominant nonsyndromic deafness 41 autosomal dominant nonsyndromic hearing loss 41
MONDO:0012002 autosomal recessive nonsyndromic hearing loss 40 autosomal recessive nonsyndromic deafness 40 autosomal recessive nonsyndromic hearing loss 40
MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 autosomal recessive nonsyndromic deafness 39 autosomal recessive nonsyndromic hearing loss 39
MONDO:0012023 autosomal dominant nonsyndromic hearing loss 49 autosomal dominant nonsyndromic deafness 49 autosomal dominant nonsyndromic hearing loss 49
MONDO:0012030 autosomal dominant nonsyndromic hearing loss 43 autosomal dominant nonsyndromic deafness 43 autosomal dominant nonsyndromic hearing loss 43
MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 autosomal recessive nonsyndromic deafness 35 autosomal recessive nonsyndromic hearing loss 35
MONDO:0012083 autosomal dominant nonsyndromic hearing loss 28 autosomal dominant nonsyndromic deafness 28 autosomal dominant nonsyndromic hearing loss 28
MONDO:0012086 autosomal dominant nonsyndromic hearing loss 31 autosomal dominant nonsyndromic deafness 31 autosomal dominant nonsyndromic hearing loss 31
MONDO:0012090 autosomal dominant nonsyndromic hearing loss 47 autosomal dominant nonsyndromic deafness 47 autosomal dominant nonsyndromic hearing loss 47
MONDO:0012091 autosomal recessive nonsyndromic hearing loss 32 autosomal recessive nonsyndromic deafness 32 autosomal recessive nonsyndromic hearing loss 32
MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 autosomal recessive nonsyndromic deafness 36 autosomal recessive nonsyndromic hearing loss 36
MONDO:0012273 autosomal recessive nonsyndromic hearing loss 48 autosomal recessive nonsyndromic deafness 48 autosomal recessive nonsyndromic hearing loss 48
MONDO:0012293 autosomal recessive nonsyndromic hearing loss 23 autosomal recessive nonsyndromic deafness 23 autosomal recessive nonsyndromic hearing loss 23
MONDO:0012326 autosomal recessive nonsyndromic hearing loss 42 autosomal recessive nonsyndromic deafness 42 autosomal recessive nonsyndromic hearing loss 42
MONDO:0012327 autosomal recessive nonsyndromic hearing loss 46 autosomal recessive nonsyndromic deafness 46 autosomal recessive nonsyndromic hearing loss 46
MONDO:0012333 autosomal recessive nonsyndromic hearing loss 53 autosomal recessive nonsyndromic deafness 53 autosomal recessive nonsyndromic hearing loss 53
MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 autosomal recessive nonsyndromic deafness 28 autosomal recessive nonsyndromic hearing loss 28
MONDO:0012370 autosomal recessive nonsyndromic hearing loss 51 autosomal recessive nonsyndromic deafness 51 autosomal recessive nonsyndromic hearing loss 51
MONDO:0012375 autosomal recessive nonsyndromic hearing loss 47 autosomal recessive nonsyndromic deafness 47 autosomal recessive nonsyndromic hearing loss 47
MONDO:0012376 autosomal recessive nonsyndromic hearing loss 55 autosomal recessive nonsyndromic deafness 55 autosomal recessive nonsyndromic hearing loss 55
MONDO:0012380 autosomal dominant nonsyndromic hearing loss 53 autosomal dominant nonsyndromic deafness 53 autosomal dominant nonsyndromic hearing loss 53
MONDO:0012418 autosomal recessive nonsyndromic hearing loss 62 autosomal recessive nonsyndromic deafness 62 autosomal recessive nonsyndromic hearing loss 62
MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 autosomal recessive nonsyndromic deafness 49 autosomal recessive nonsyndromic hearing loss 49
MONDO:0012421 autosomal recessive nonsyndromic hearing loss 44 autosomal recessive nonsyndromic deafness 44 autosomal recessive nonsyndromic hearing loss 44
MONDO:0012442 autosomal recessive nonsyndromic hearing loss 66 autosomal recessive nonsyndromic deafness 66 autosomal recessive nonsyndromic hearing loss 66
MONDO:0012445 autosomal recessive nonsyndromic hearing loss 59 autosomal recessive nonsyndromic deafness 59 autosomal recessive nonsyndromic hearing loss 59
MONDO:0012452 autosomal recessive nonsyndromic hearing loss 65 autosomal recessive nonsyndromic deafness 65 autosomal recessive nonsyndromic hearing loss 65
MONDO:0012460 autosomal recessive nonsyndromic hearing loss 67 autosomal recessive nonsyndromic deafness 67 autosomal recessive nonsyndromic hearing loss 67
MONDO:0012485 autosomal recessive nonsyndromic hearing loss 68 autosomal recessive nonsyndromic deafness 68 autosomal recessive nonsyndromic hearing loss 68
MONDO:0012602 autosomal recessive nonsyndromic hearing loss 24 autosomal recessive nonsyndromic deafness 24 autosomal recessive nonsyndromic hearing loss 24
MONDO:0012670 autosomal recessive nonsyndromic hearing loss 63 autosomal recessive nonsyndromic deafness 63 autosomal recessive nonsyndromic hearing loss 63
MONDO:0012902 autosomal dominant nonsyndromic hearing loss 27 autosomal dominant nonsyndromic deafness 27 autosomal dominant nonsyndromic hearing loss 27
MONDO:0012903 autosomal recessive nonsyndromic hearing loss 45 autosomal recessive nonsyndromic deafness 45 autosomal recessive nonsyndromic hearing loss 45
MONDO:0012974 autosomal dominant nonsyndromic hearing loss 59 autosomal dominant nonsyndromic deafness 59 autosomal dominant nonsyndromic hearing loss 59
MONDO:0012975 autosomal dominant nonsyndromic hearing loss 3B autosomal dominant nonsyndromic deafness 3B autosomal dominant nonsyndromic hearing loss 3B
MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B autosomal dominant nonsyndromic deafness 2B autosomal dominant nonsyndromic hearing loss 2B
MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B autosomal recessive nonsyndromic deafness 1B autosomal recessive nonsyndromic hearing loss 1B
MONDO:0013010 autosomal recessive nonsyndromic hearing loss 71 autosomal recessive nonsyndromic deafness 71 autosomal recessive nonsyndromic hearing loss 71
MONDO:0013114 autosomal dominant nonsyndromic hearing loss 50 autosomal dominant nonsyndromic deafness 50 autosomal dominant nonsyndromic hearing loss 50
MONDO:0013119 autosomal recessive nonsyndromic hearing loss 77 autosomal recessive nonsyndromic deafness 77 autosomal recessive nonsyndromic hearing loss 77
MONDO:0700071 myopathy caused by variation in POMT2 myopathy caused by varation in POMT2 myopathy caused by variation in POMT2
MONDO:0013210 autosomal recessive nonsyndromic hearing loss 25 autosomal recessive nonsyndromic deafness 25 autosomal recessive nonsyndromic hearing loss 25
MONDO:0013215 autosomal recessive nonsyndromic hearing loss 79 autosomal recessive nonsyndromic deafness 79 autosomal recessive nonsyndromic hearing loss 79
MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A autosomal recessive nonsyndromic deafness 84A autosomal recessive nonsyndromic hearing loss 84A
MONDO:0013250 autosomal recessive nonsyndromic hearing loss 85 autosomal recessive nonsyndromic deafness 85 autosomal recessive nonsyndromic hearing loss 85
MONDO:0013269 autosomal recessive nonsyndromic hearing loss 91 autosomal recessive nonsyndromic deafness 91 autosomal recessive nonsyndromic hearing loss 91
MONDO:0013305 autosomal dominant nonsyndromic hearing loss 51 autosomal dominant nonsyndromic deafness 51 autosomal dominant nonsyndromic hearing loss 51
MONDO:0013365 autosomal recessive nonsyndromic hearing loss 83 autosomal recessive nonsyndromic deafness 83 autosomal recessive nonsyndromic hearing loss 83
MONDO:0013386 autosomal recessive nonsyndromic hearing loss 74 autosomal recessive nonsyndromic deafness 74 autosomal recessive nonsyndromic hearing loss 74
MONDO:0013471 autosomal recessive nonsyndromic hearing loss 61 autosomal recessive nonsyndromic deafness 61 autosomal recessive nonsyndromic hearing loss 61
MONDO:0013489 autosomal recessive nonsyndromic hearing loss 89 autosomal recessive nonsyndromic deafness 89 autosomal recessive nonsyndromic hearing loss 89
MONDO:0013537 autosomal recessive nonsyndromic hearing loss 29 autosomal recessive nonsyndromic deafness 29 autosomal recessive nonsyndromic hearing loss 29
MONDO:0013593 autosomal dominant nonsyndromic hearing loss 64 autosomal dominant nonsyndromic deafness 64 autosomal dominant nonsyndromic hearing loss 64
MONDO:0013632 autosomal dominant nonsyndromic hearing loss 33 autosomal dominant nonsyndromic deafness 33 autosomal dominant nonsyndromic hearing loss 33
MONDO:0013738 autosomal recessive nonsyndromic hearing loss 96 autosomal recessive nonsyndromic deafness 96 autosomal recessive nonsyndromic hearing loss 96
MONDO:0013823 autosomal dominant nonsyndromic hearing loss 4B autosomal dominant nonsyndromic deafness 4B autosomal dominant nonsyndromic hearing loss 4B
MONDO:0013826 autosomal recessive nonsyndromic hearing loss 86 autosomal recessive nonsyndromic deafness 86 autosomal recessive nonsyndromic hearing loss 86
MONDO:0700075 congenital muscular dystrophy caused by variation in POMGNT2 congenital muscular dystrophy caused by varation in POMGNT2 congenital muscular dystrophy caused by variation in POMGNT2
MONDO:0013929 autosomal recessive nonsyndromic hearing loss 98 autosomal recessive nonsyndromic deafness 98 autosomal recessive nonsyndromic hearing loss 98
MONDO:0013963 autosomal recessive nonsyndromic hearing loss 93 autosomal recessive nonsyndromic deafness 93 autosomal recessive nonsyndromic hearing loss 93
MONDO:0013978 autosomal recessive nonsyndromic hearing loss 70 autosomal recessive nonsyndromic deafness 70 autosomal recessive nonsyndromic hearing loss 70
MONDO:0013984 autosomal recessive nonsyndromic hearing loss 84B autosomal recessive nonsyndromic deafness 84B autosomal recessive nonsyndromic hearing loss 84B
MONDO:0013985 autosomal recessive nonsyndromic hearing loss 18B autosomal recessive nonsyndromic deafness 18B autosomal recessive nonsyndromic hearing loss 18B
MONDO:0700084 myopathy caused by variation in GMPPB myopathy caused by varation in GMPPB myopathy caused by variation in GMPPB
MONDO:0014182 autosomal recessive nonsyndromic hearing loss 88 autosomal recessive nonsyndromic deafness 88 autosomal recessive nonsyndromic hearing loss 88
MONDO:0014237 autosomal recessive nonsyndromic hearing loss 76 autosomal recessive nonsyndromic deafness 76 autosomal recessive nonsyndromic hearing loss 76
MONDO:0014283 autosomal dominant nonsyndromic hearing loss 56 autosomal dominant nonsyndromic deafness 56 autosomal dominant nonsyndromic hearing loss 56
MONDO:0014291 autosomal dominant nonsyndromic hearing loss 54 autosomal dominant nonsyndromic deafness 54 autosomal dominant nonsyndromic hearing loss 54
MONDO:0014293 autosomal dominant nonsyndromic hearing loss 58 autosomal dominant nonsyndromic deafness 58 autosomal dominant nonsyndromic hearing loss 58
MONDO:0014353 immunodeficiency 23 PGM3-CDG immunodeficiency 23
MONDO:0014363 autosomal recessive nonsyndromic hearing loss 101 autosomal recessive nonsyndromic deafness 101 autosomal recessive nonsyndromic hearing loss 101
MONDO:0014428 autosomal recessive nonsyndromic hearing loss 102 autosomal recessive nonsyndromic deafness 102 autosomal recessive nonsyndromic hearing loss 102
MONDO:0014469 autosomal recessive nonsyndromic hearing loss 103 autosomal recessive nonsyndromic deafness 103 autosomal recessive nonsyndromic hearing loss 103
MONDO:0014470 autosomal dominant nonsyndromic hearing loss 65 autosomal dominant nonsyndromic deafness 65 autosomal dominant nonsyndromic hearing loss 65
MONDO:0014594 autosomal dominant nonsyndromic hearing loss 67 autosomal dominant nonsyndromic deafness 67 autosomal dominant nonsyndromic hearing loss 67
MONDO:0014603 autosomal dominant nonsyndromic hearing loss 40 autosomal dominant nonsyndromic deafness 40 autosomal dominant nonsyndromic hearing loss 40
MONDO:0014675 autosomal recessive nonsyndromic hearing loss 104 autosomal recessive nonsyndromic deafness 104 autosomal recessive nonsyndromic hearing loss 104
MONDO:0014738 autosomal dominant nonsyndromic hearing loss 69 autosomal dominant nonsyndromic deafness 69 autosomal dominant nonsyndromic hearing loss 69
MONDO:0014739 autosomal recessive nonsyndromic hearing loss 97 autosomal recessive nonsyndromic deafness 97 autosomal recessive nonsyndromic hearing loss 97
MONDO:0014740 autosomal dominant nonsyndromic hearing loss 68 autosomal dominant nonsyndromic deafness 68 autosomal dominant nonsyndromic hearing loss 68
MONDO:0014853 autosomal dominant nonsyndromic hearing loss 70 autosomal dominant nonsyndromic deafness 70 autosomal dominant nonsyndromic hearing loss 70
MONDO:0014854 autosomal dominant nonsyndromic hearing loss 66 autosomal dominant nonsyndromic deafness 66 autosomal dominant nonsyndromic hearing loss 66
MONDO:0019497 nonsyndromic genetic hearing loss nonsyndromic genetic deafness nonsyndromic genetic hearing loss
MONDO:0018138 ocular albinism with congenital sensorineural hearing loss ocular albinism with congenital sensorineural deafness ocular albinism with congenital sensorineural hearing loss
MONDO:0018355 SIM1-related Prader-Willi-like syndrome Prader-Willi-like syndrome due to point mutation SIM1-related Prader-Willi-like syndrome
MONDO:0020682 Ehlers-Danlos syndrome, spondylodysplastic type, 1 Ehlers-Danlos syndrome, progeroid type 1 Ehlers-Danlos syndrome, spondylodysplastic type, 1
MONDO:0020752 myoclonic epilepsy, juvenile, susceptibility to, 1 EJM1 myoclonic epilepsy, juvenile, susceptibility to, 1
MONDO:0024429 Alice in Wonderland syndrome Alice in wonderland syndrome Alice in Wonderland syndrome
MONDO:0029137 hearing loss, autosomal dominant 74 deafness, autosomal dominant 74 hearing loss, autosomal dominant 74
MONDO:0029142 hearing loss, autosomal recessive 111 deafness, autosomal recessive 111 hearing loss, autosomal recessive 111
MONDO:0030058 hearing loss, autosomal dominant 77 deafness, autosomal dominant 77 hearing loss, autosomal dominant 77
MONDO:0030905 hearing loss, autosomal recessive 117 deafness, autosomal recessive 117 hearing loss, autosomal recessive 117
MONDO:0030998 hearing loss, autosomal dominant 80 deafness, autosomal dominant 80 hearing loss, autosomal dominant 80
MONDO:0032639 hearing loss, autosomal recessive 112 deafness, autosomal recessive 112 hearing loss, autosomal recessive 112
MONDO:0032732 hearing loss, autosomal recessive 113 deafness, autosomal recessive 113 hearing loss, autosomal recessive 113
MONDO:0032740 hearing loss, autosomal recessive 100 deafness, autosomal recessive 100 hearing loss, autosomal recessive 100
MONDO:0032749 hearing loss, autosomal recessive 94 deafness, autosomal recessive 94 hearing loss, autosomal recessive 94
MONDO:0032761 hearing loss, autosomal recessive 114 deafness, autosomal recessive 114 hearing loss, autosomal recessive 114
MONDO:0032762 hearing loss, autosomal recessive 115 deafness, autosomal recessive 115 hearing loss, autosomal recessive 115
MONDO:0032776 hearing loss, autosomal recessive 99 deafness, autosomal recessive 99 hearing loss, autosomal recessive 99
MONDO:0032802 hearing loss, autosomal dominant 37 deafness, autosomal dominant 37 hearing loss, autosomal dominant 37
MONDO:0032911 hearing loss, autosomal dominant 75 deafness, autosomal dominant 75 hearing loss, autosomal dominant 75
MONDO:0032917 hearing loss, autosomal dominant 76 deafness, autosomal dominant 76 hearing loss, autosomal dominant 76
MONDO:0033198 hearing loss, autosomal recessive 106 deafness, autosomal recessive 106 hearing loss, autosomal recessive 106
MONDO:0033199 hearing loss, autosomal recessive 107 deafness, autosomal recessive 107 hearing loss, autosomal recessive 107
MONDO:0033200 hearing loss, autosomal recessive 108 deafness, autosomal recessive 108 hearing loss, autosomal recessive 108
MONDO:0033201 hearing loss, autosomal recessive 57 deafness, autosomal recessive 57 hearing loss, autosomal recessive 57
MONDO:0033202 hearing loss, autosomal recessive 109 deafness, autosomal recessive 109 hearing loss, autosomal recessive 109
MONDO:0033258 hearing loss, autosomal dominant 71 deafness, autosomal dominant 71 hearing loss, autosomal dominant 71
MONDO:0033259 hearing loss, autosomal dominant 72 deafness, autosomal dominant 72 hearing loss, autosomal dominant 72
MONDO:0033260 hearing loss, autosomal dominant 73 deafness, autosomal dominant 73 hearing loss, autosomal dominant 73
MONDO:0033261 hearing loss, autosomal dominant 34, with or without inflammation deafness, autosomal dominant 34, with or without inflammation hearing loss, autosomal dominant 34, with or without inflammation
MONDO:0033665 hearing loss, autosomal dominant 78 deafness, autosomal dominant 78 hearing loss, autosomal dominant 78
MONDO:0033668 hearing loss, autosomal dominant 79 deafness, autosomal dominant 79 hearing loss, autosomal dominant 79
MONDO:0033670 hearing loss, autosomal recessive 116 deafness, autosomal recessive 116 hearing loss, autosomal recessive 116
MONDO:0054860 hearing loss, autosomal recessive 110 deafness, autosomal recessive 110 hearing loss, autosomal recessive 110
MONDO:0700069 myopathy caused by variation in POMGNT2 myopathy caused by varation in POMGNT2 myopathy caused by variation in POMGNT2

Changed definitions

Mondo ID Label Previous release New release
MONDO:0700066 myopathy caused by variation in FKRP Any myopathy in which the cause of the disease is a varation in the FKRP gene. Any myopathy in which the cause of the disease is a variation in the FKRP gene.
MONDO:0700068 myopathy caused by variation in POMGNT1 Any myopathy in which the cause of the disease is a varation in the POMGNT1 gene. Any myopathy in which the cause of the disease is a variation in the POMGNT1 gene.
MONDO:0017884 papillary renal cell carcinoma Papillary renal cell carcinoma is a rare subtype of renal cell carcinoma, arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes, such as Hereditary leiomyoma renal cell carcinoma, Birt-Hogg-DubC) syndrome and Tuberous sclerosis, may predispose to the development of papillary renal cell carcinoma. A rare subtype of renal cell carcinoma, arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes, such as Hereditary leiomyoma renal cell carcinoma, Birt-Hogg-DubC) syndrome and Tuberous sclerosis, may predispose to the development of papillary renal cell carcinoma.
MONDO:0015993 cone-rod dystrophy Cone rod dystrophies (CRDs) are inherited retinal dystrophies that belong to the group of pigmentary retinopathies. Inherited retinal dystrophies that belong to the group of pigmentary retinopathies.
MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture. A rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture.
MONDO:0007570 erythema palmare hereditarium Erythema palmare hereditarium is a rare, benign, congenital genetic skin disorder characterized by permanent and asymptomatic erythema of the palmar and, less frequently, the solar surfaces. In most cases, it presents with sharply demarcated redness of the thenar and hypothenar eminences, as well as the palmar aspect of the phalanges, with scattered telangiectasia spots that do not cause any discomfort (pain, itching or burning) to the patient. A rare, benign, congenital genetic skin disorder characterized by permanent and asymptomatic erythema of the palmar and, less frequently, the solar surfaces. In most cases, it presents with sharply demarcated redness of the thenar and hypothenar eminences, as well as the palmar aspect of the phalanges, with scattered telangiectasia spots that do not cause any discomfort (pain, itching or burning) to the patient.
MONDO:0016028 erythromelalgia Erythromelalgia is a rare neurovascular peripheral pain disorder due to the intermittent blockage of the blood vessels, usually in the lower extremities or hands. This causes hyperemia and inflammation at the origin of burning pain and skin redness. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder. Primary erythromelalgia is caused by gene mutations. Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, essential thrombocytemia, hypercholesterolemia, mushroom or mercury poisoning, and some autoimmune disorders. A rare neurovascular peripheral pain disorder due to the intermittent blockage of the blood vessels, usually in the lower extremities or hands. This causes hyperemia and inflammation at the origin of burning pain and skin redness. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder. Primary erythromelalgia is caused by gene mutations. Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, essential thrombocytemia, hypercholesterolemia, mushroom or mercury poisoning, and some autoimmune disorders.
MONDO:0007600 primary Fanconi syndrome Fanconi syndrome is a condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones. A condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones.
MONDO:0007691 Guillain-Barre syndrome, familial A chronic monophasic, progressive or relapsing symmetric sensorimotor disorder characterized by progressive muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins. A form of Guillain-Barre syndrome (GBS) that occurs in persons or families with a genetic predisposition to the acute or chronic forms of GBS. Note that GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors, and families with clear Mendelian inheritance have been rarely reported: a mutation in the PMP22 gene (601097) on chromosome 17 was identified in a single family with the acute (AIDP) and chronic (CIDP) forms of inflammatory demyelinating polyneuropathy.
MONDO:0007935 cystoid macular edema Cystoid macular dystrophy is an autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa. It is associated with a poor visual prognosis. An autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa. It is associated with a poor visual prognosis.
MONDO:0018868 metachromatic leukodystrophy Metachromatic leukodystrophy (MLD) is a rare lysosomal storage disorder characterized byintralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function. A rare lysosomal storage disorder characterized byintralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function.
MONDO:0009723 Leigh syndrome Leigh syndrome or subacute necrotizing encephalomyelopathy is a progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions. A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.
MONDO:0019260 adult neuronal ceroid lipofuscinosis Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration. A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration.
MONDO:0016620 primary hypertrophic osteoarthropathy Primary hypertrophic osteoarthropathy (PHO) is a genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy. A genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy.
MONDO:0020381 patterned macular dystrophy Butterfly-shaped pigment dystrophy is a patterned dystrophy of the retinal pigment epithelium characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age. A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped.
MONDO:0019188 Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics. A rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics.
MONDO:0008492 stiff skin syndrome Stiff skin syndrome (SSS) is a rare syndrome characterized by hard, thick skin, usually on the entire body. The thickening of the skin can limit joint mobility and causes joints to be stuck in a bent position (flexion contractures). The onset of signs and symptoms can range from presenting at birth through childhood. Other signs and symptoms may include excessive hair growth (hypertrichosis), loss of body fat (lipodystrophy), scoliosis, muscle weakness, slow growth, and short stature. Weakness or paralysis of the eye muscles have also been reported. Stiff skin syndrome is caused by mutations (changes) in the FBN1 gene and is inherited in an autosomal dominant manner. Diagnosis is based on a clinical evaluation that is consistent with stiff skin syndrome, and the diagnosis can be confirmed with genetic testing. Treatment is based on the symptoms of each individual and may include physical therapy. A rare syndrome characterized by hard, thick skin, usually on the entire body. The thickening of the skin can limit joint mobility and causes joints to be stuck in a bent position (flexion contractures). The onset of signs and symptoms can range from presenting at birth through childhood. Other signs and symptoms may include excessive hair growth (hypertrichosis), loss of body fat (lipodystrophy), scoliosis, muscle weakness, slow growth, and short stature. Weakness or paralysis of the eye muscles have also been reported. Stiff skin syndrome is caused by mutations (changes) in the FBN1 gene and is inherited in an autosomal dominant manner. Diagnosis is based on a clinical evaluation that is consistent with stiff skin syndrome, and the diagnosis can be confirmed with genetic testing. Treatment is based on the symptoms of each individual and may include physical therapy.
MONDO:0008585 HELLP syndrome HELLP syndrome is a life-threatening condition that can potentially complicate pregnancy. It is named for 3 features of the condition: H emolysis, E levated L iver enzyme levels, and L ow P latelet levels. It typically occurs in the last 3 months of pregnancy (the third trimester) but can also start soon after delivery. A wide range of non-specific symptoms may be present in women with HELLP syndrome. Symptoms may include fatigue; malaise; fluid retention and excess weight gain; headache; nausea and vomiting; pain in the upper right or middle of the abdomen; blurry vision; and rarely, nosebleed or seizures. The cause of HELLP syndrome is not known, but certain risk factors have been associated with the condition. It is most common in women with preeclampsia or eclampsia. If not diagnosed and treated quickly, HELLP syndrome can lead to serious complications for the mother and baby.The main treatment is to deliver the baby as soon as possible, even if premature. Treatment may also includemedications needed for the mother or baby, and blood transfusion for severe bleeding problems. A life-threatening condition that can potentially complicate pregnancy. It is named for 3 features of the condition: H emolysis, E levated L iver enzyme levels, and L ow P latelet levels. It typically occurs in the last 3 months of pregnancy (the third trimester) but can also start soon after delivery. A wide range of non-specific symptoms may be present in women with HELLP syndrome. Symptoms may include fatigue; malaise; fluid retention and excess weight gain; headache; nausea and vomiting; pain in the upper right or middle of the abdomen; blurry vision; and rarely, nosebleed or seizures. The cause of HELLP syndrome is not known, but certain risk factors have been associated with the condition. It is most common in women with preeclampsia or eclampsia. If not diagnosed and treated quickly, HELLP syndrome can lead to serious complications for the mother and baby.The main treatment is to deliver the baby as soon as possible, even if premature. Treatment may also include medications needed for the mother or baby, and blood transfusion for severe bleeding problems.
MONDO:0019635 idiopathic achalasia Idiopathic achalasia (IA) is a primary esophageal motor disorder characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter (LES) relaxation in response to deglutition. A primary esophageal motor disorder characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter (LES) relaxation in response to deglutition.
MONDO:0016295 neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina. A group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.
MONDO:0019262 juvenile neuronal ceroid lipofuscinosis Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities. A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities.
MONDO:0015674 late infantile neuronal ceroid lipofuscinosis Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration. A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration.
MONDO:0015229 Bardet-Biedl syndrome Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement. It is invariantly characterized by rod-cone dystrophy, and at least three additional non-ocular features such as intellectual disability, obesity, polydactyly, hypogonadism, or renal anomalies as primary manifestations. In the absence of one of these four primary clinical features, the diagnosis of BBS is made when at least two secondary features are observed, including hepatic fibrosis, diabetes mellitus, reproductive and developmental abnormalities, growth retardation, speech delays, or cardiovascular problems A ciliopathy with multisystem involvement. It is invariantly characterized by rod-cone dystrophy, and at least three additional non-ocular features such as intellectual disability, obesity, polydactyly, hypogonadism, or renal anomalies as primary manifestations. In the absence of one of these four primary clinical features, the diagnosis of BBS is made when at least two secondary features are observed, including hepatic fibrosis, diabetes mellitus, reproductive and developmental abnormalities, growth retardation, speech delays, or cardiovascular problems
MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome is a rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease. A rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease.
MONDO:0009198 congenital lethal erythroderma Congenital lethal erythroderma is a rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992. A rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992.
MONDO:0009218 Farber lipogranulomatosis Farber disease is a rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement. A rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.
MONDO:0018149 GM1 gangliosidosis GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features. A rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features.
MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome Hirschsprung disease-deafness-polydactyly is an extremely rare malformative association, described in only two siblings to date, and characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to the symptoms of intestinal obstruction including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988. An extremely rare malformative association, described in only two siblings to date, and characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to the symptoms of intestinal obstruction including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988.
MONDO:0700070 myopathy caused by variation in POMT1 Any myopathy in which the cause of the disease is a varation in the POMT1 gene. Any myopathy in which the cause of the disease is a variation in the POMT1 gene.
MONDO:0009465 multiple intestinal atresia Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns. A rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns.
MONDO:0009499 Krabbe disease Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms. A lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms.
MONDO:0009514 Laurence-Moon syndrome Laurence-Moon syndrome (LMS) is a very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy. A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.
MONDO:0009653 mucolipidosis type IV Mucolipidosis type IV (ML IV) is a lysosomal storage disease characterised clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus. A lysosomal storage disease characterised clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus.
MONDO:0700067 myopathy caused by variation in FKTN Any myopathy in which the cause of the disease is a varation in the FKTN gene. Any myopathy in which the cause of the disease is a variation in the FKTN gene.
MONDO:0009737 galactosialidosis Galactosialidosis is a lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form. A lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.
MONDO:0009796 ornithine aminotransferase deficiency Gyrate atrophy of the choroid and retina (GACR) is a very rare, inherited retinal dystrophy, characterized by progressive chorioretinal atrophy, myopia and early cataract. A very rare inherited retinal dystrophy characterized by progressive chorioretinal atrophy, myopia and early cataract.
MONDO:0010031 Sjogren-Larsson syndrome SjC6gren-Larsson syndrome (SLS) is a neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity. A neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity.
MONDO:0019501 Usher syndrome Usher syndrome (US) is characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss. A syndromic diseae characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss.
MONDO:0016535 hypohidrotic ectodermal dysplasia Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency). A genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency).
MONDO:0010403 albinism-hearing loss syndrome Albinism-deafness syndrome (ADFN) is characterised by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1. A syndromic genetic hearing loss is characterised by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1.
MONDO:0018904 primary membranoproliferative glomerulonephritis Membranoproliferative glomerulonephritis (MPGN) is a chronic progressive kidney disorder characterized by glomerular capillary wall structural changes and mesangial cell proliferation leading to nephrotic syndrome, hypocomplementemia, hypertension, proteinuria and end-stage kidney disease. MPGN can be due to either idiopathic (type 1, 2 and 3 MPGN) or secondary (associated with infectious and immune complex diseases) causes. A rare glomerular disease characterized by a pattern of glomerular injury on kidney biopsy with characteristic light microscopic changes: mesangial hypercellularity, endocapillary proliferation, and thickening of the glomerular basement membrane (GBM). On the basis of immunofluorescence (IF) the disorder is divided into C3 glomerulopathy (C3G) or immunoglobulin-mediated membranoproliferative glomerulonephritis. Through electron microscopy C3G is further divided into Dense deposit disease, with highly electrondense deposits in the glomerular basement membrane, and C3 glomerulonephritis, with mesangial, intramembranous, subendothelial and subepithelial deposits. Secondary causes (autoimmune, infectious, malignancies) are excluded.
MONDO:0010674 mucopolysaccharidosis type 2 Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement. A lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement.
MONDO:0010725 X-linked retinoschisis X-linked retinoschisis (XLRS) is a genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration. A genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration.
MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. A very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.
MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A Neuronal ceroid lipofuscinosis 6 (CLN6-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 18 months and 8 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (loss of previously acquired skills). It occurs predominantly in people of Portuguese, Indian, Pakistani, or Czech ancestry. CLN6-NCL is caused by changes (mutations) in the CLN6 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms. A rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 18 months and 8 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (loss of previously acquired skills). It occurs predominantly in people of Portuguese, Indian, Pakistani, or Czech ancestry. CLN6-NCL is caused by changes (mutations) in the CLN6 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.
MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin. A rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin.
MONDO:0011781 spinocerebellar ataxia type 17 Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy. A rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.
MONDO:0011875 epilepsy, idiopathic generalized, susceptibility to, 11 Any generalised epilepsy in which the cause of the disease is a mutation in the CLCN2 gene. An inherited susceptibility or predisposition to developing epilepsy, idiopathic generalized, in which the cause of the disease is a mutation in the CLCN2 gene.
MONDO:0011997 Hermansky-Pudlak syndrome 2 Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia. A type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.
MONDO:0012414 neuronal ceroid lipofuscinosis 10 Neuronal ceroid lipofuscinosis 10(CLN10-NCL) is arare condition that affects the nervous system. Signs and symptoms of the condition can develop any time from birth to adulthood and may include progressive dementia, seizures, lack of muscle coordination, and vision loss. CLN10-NCL is caused by changes (mutations) in the CTSD gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms. A rare condition that affects the nervous system. Signs and symptoms of the condition can develop any time from birth to adulthood and may include progressive dementia, seizures, lack of muscle coordination, and vision loss. CLN10-NCL is caused by changes (mutations) in the CTSD gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.
MONDO:0012627 epilepsy, idiopathic generalized, susceptibility to, 13 Any juvenile myoclonic epilepsy in which the cause of the disease is a mutation in the GABRA1 gene. An inherited susceptibility or predisposition to developing juvenile myclonic epilepsy, idiopathic generalized epilepsy, or childhood absence epilepsy in which the cause of the disease is a mutation in the GABRA1 gene.
MONDO:0012763 epilepsy, childhood absence, susceptibility to, 6 Any childhood absence epilepsy in which the cause of the disease is a mutation in the CACNA1H gene. An inherited susceptibility or predisposition to developing child absence epilepsy or idiopathic generalized epilepsy, in which the cause of the disease is a mutation in the CACNA1H gene.
MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 Any juvenile myoclonic epilepsy in which the cause of the disease is a mutation in the GABRD gene. An inherited susceptibility or predisposition to developing epilepsy, idiopathic generalized, in which the cause of the disease is a mutation in the GABRD gene.
MONDO:0700075 congenital muscular dystrophy caused by variation in POMGNT2 Any congenital muscular dystrophy in which the cause of the disease is a varation in the POMGNT2 gene. Any congenital muscular dystrophy in which the cause of the disease is a variation in the POMGNT2 gene.
MONDO:0019609 Zellweger spectrum disorders Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction. The most severe variant seen in the peroxisome biogenesis disorders that is characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.
MONDO:0700084 myopathy caused by variation in GMPPB Any myopathy in which the cause of the disease is a varation in the GMPPB gene. Any myopathy in which the cause of the disease is a variation in the GMPPB gene.
MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency A rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported.
MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement is a rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic eosinophilic leukemia or, less commonly, as acute myeloid leukemia or T-lymphoblastic leukemia with eosinophilia. Patients usually present with eosinophilia, anemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy. A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic eosinophilic leukemia or, less commonly, as acute myeloid leukemia or T-lymphoblastic leukemia with eosinophilia. Patients usually present with eosinophilia, anemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy.
MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement is a rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRB gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic myelomonocytic leukemia with eosinophilia, chronic eosinophilic leukemia, atypical chronic myelogenous leukemia, juvenile myelomonocytic leukemia, myelodysplastic syndrome, acute myeloid leukemia or acute lymphoblastic leukemia. Patients usually present with anemia, leukocytosis, monocytosis, eosinophilia and/or splenomegaly, or systemic symptoms, such as fever, sweating and/or weight loss. A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRB gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic myelomonocytic leukemia with eosinophilia, chronic eosinophilic leukemia, atypical chronic myelogenous leukemia, juvenile myelomonocytic leukemia, myelodysplastic syndrome, acute myeloid leukemia or acute lymphoblastic leukemia. Patients usually present with anemia, leukocytosis, monocytosis, eosinophilia and/or splenomegaly, or systemic symptoms, such as fever, sweating and/or weight loss.
MONDO:0016539 atypical hypotonia-cystinuria syndrome Atypical hypotonia-cystinuria syndrome is a form of hypotonia-cystinuria type 1 syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation, and minor facial dysmorphism). A form of hypotonia-cystinuria syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation, and minor facial dysmorphism).
MONDO:0016662 idiopathic recurrent pericarditis Idiopathic recurrent pericarditis is a rare autoinflammatory syndrome defined as recurrence of pericardial inflammation of unknown origin following the first episode of acute pericarditis and a symptom-free interval of 4-6 weeks or longer. Recurrent attacks of chest pain may be the sole presentation or the chest pain may be accompanied by pericardial friction rub, electrocardiographic or echocardiographic changes, pericardial effusion and increased C-reactive protein. Cardiac tamponade is a rare, life-threatening complication. A rare autoinflammatory syndrome defined as recurrence of pericardial inflammation of unknown origin following the first episode of acute pericarditis and a symptom-free interval of 4-6 weeks or longer. Recurrent attacks of chest pain may be the sole presentation or the chest pain may be accompanied by pericardial friction rub, electrocardiographic or echocardiographic changes, pericardial effusion and increased C-reactive protein. Cardiac tamponade is a rare, life-threatening complication.
MONDO:0017178 osteochondritis dissecans Osteochondritis dissecans (OCD) is a rare bone disease characterized by an acquired idiopathic necrotic lesion of subchondral bone with the formation of a sequestrum, which may detach to form loose bodies in joints. OCD mainly affects the knee, ankle and elbow joints and can lead to pain, functional limitations and secondary osteoarthritis. A rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.
MONDO:0017681 erythrokeratoderma variabilis progressiva Erythrokeratoderma variabilis progressiva (EKVP) is a type of erythrokeratoderma characterized by the association of hyperkeratosis and erythema in persistent, although sometimes variable, circumscribed lesions. Progressive symmetric erythrokeratoderma (PSEK) and erythrokeratoderma variabilis (EKV) are probably no longer two distinctive diseases but rather the two clinical manifestations of a same disease, now known as EKVP. A type of erythrokeratoderma characterized by the association of hyperkeratosis and erythema in persistent, although sometimes variable, circumscribed lesions. Progressive symmetric erythrokeratoderma (PSEK) and erythrokeratoderma variabilis (EKV) are probably no longer two distinctive diseases but rather the two clinical manifestations of a same disease, now known as EKVP.
MONDO:0700069 myopathy caused by variation in POMGNT2 Any myopathy in which the cause of the disease is a varation in the POMGNT2 gene. Any myopathy in which the cause of the disease is a variation in the POMGNT2 gene.

Obsolete terms

Mondo ID Label
MONDO:0000881 obsolete myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1
MONDO:0000882 obsolete myeloid and lymphoid neoplasms associated with PDGFRA rearrangement
MONDO:0000883 obsolete myeloid neoplasms associated with PDGFRB rearrangement
MONDO:0006475 obsolete unclassified renal cell carcinoma
MONDO:0006728 obsolete discitis
MONDO:0017957 obsolete unclassified autoinflammatory syndrome
MONDO:0007684 obsolete granulomatous disease, chronic, autosomal dominant type
MONDO:0007815 obsolete immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist
MONDO:0008091 obsolete abnormal neutrophil chemotactic response
MONDO:0008122 obsolete olivopontocerebellar atrophy 5
MONDO:0020244 obsolete unclassified primitive or secondary maculopathy
MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis
MONDO:0009004 obsolete combined inflammatory and immunologic defect
MONDO:0009494 obsolete Ketoadipicaciduria
MONDO:0009535 obsolete lymphedema, congenital recessive
MONDO:0009654 obsolete mucopolysaccharidoses, unclassified types
MONDO:0009799 obsolete pachydermoperiostosis
MONDO:0010527 obsolete microphthalmia-ankyloblepharon-intellectual disability syndrome
MONDO:0011329 obsolete cerebral palsy, spastic quadriplegic, 1
MONDO:0019299 obsolete unclassified genetic skin disorder
MONDO:0015192 obsolete unclassified intestinal pseudoobstruction
MONDO:0016538 obsolete hypotonia-cystinuria syndrome type 1
MONDO:0016665 obsolete unclassified vasculitis
MONDO:0016886 obsolete partial deletion of the short arm of chromosome 4
MONDO:0016891 obsolete partial deletion of the short arm of chromosome 9
MONDO:0016895 obsolete partial monosomy of the short arm of chromosome 17
MONDO:0016920 obsolete partial deletion of the long arm of chromosome 22
MONDO:0017608 obsolete dystrophic epidermolysis bullosa
MONDO:0018139 obsolete scleredema
MONDO:0018348 obsolete polyglucosan body myopathy type 1
MONDO:0018466 obsolete hereditary late onset Parkinson disease
MONDO:0019302 obsolete mucopolysaccharidosis with skin involvement
MONDO:0020241 obsolete unclassified familial retinal dystrophy
MONDO:0020313 obsolete unclassified myelodysplastic/myeloproliferative disease
MONDO:0020315 obsolete unclassified myelodysplastic syndrome
MONDO:0035398 obsolete hypomyelination of early myelinating structures

New obsoletion candidates

Mondo ID Label
MONDO:0003127 embryoma
MONDO:0006251 inclusion body fibromatosis
MONDO:0006785 Henoch-Schoenlein purpura
MONDO:0009410 Addison disease
MONDO:0010674 mucopolysaccharidosis type 2
MONDO:0011140 benign familial neonatal-infantile seizures
MONDO:0013617 overgrowth-macrocephaly-facial dysmorphism syndrome
MONDO:0016050 thiamine-responsive encephalopathy
MONDO:0016754 vestibular schwannoma
MONDO:0018335 deep dermatophytosis
MONDO:0018750 class I glucose-6-phosphate dehydrogenase deficiency
MONDO:0021421 carcinoid tumors, intestina

Terms that were previously candidate for obsoletion and are now not anymore

Mondo ID Label
MONDO:0003127 embryoma
MONDO:0006251 inclusion body fibromatosis
MONDO:0006785 Henoch-Schoenlein purpura
MONDO:0009410 Addison disease
MONDO:0010674 mucopolysaccharidosis type 2
MONDO:0011140 benign familial neonatal-infantile seizures
MONDO:0013617 overgrowth-macrocephaly-facial dysmorphism syndrome
MONDO:0016050 thiamine-responsive encephalopathy
MONDO:0016754 vestibular schwannoma
MONDO:0018335 deep dermatophytosis
MONDO:0018750 class I glucose-6-phosphate dehydrogenase deficiency
MONDO:0021421 carcinoid tumors, intestina
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Overview:

  • Number of new terms: 47
  • Number of changed labels: 65
  • Number of changed definitions: 57
  • Number obsoleted terms: 53
  • Number of new obsoletion candidates: 227
  • Number of terms who were previously candidate for obsoletion and are now not anymore: 53

New terms

Mondo ID Label Definition
MONDO:0023880 WHIM syndrome
MONDO:0023910 Martsolf syndrome
MONDO:0023961 visceral neuropathy, familial
MONDO:0024189 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset
MONDO:0024193 portal hypertension, noncirrhotic
MONDO:0100368 recessive RPE65 retinopathy A retinopathy, which may include conditions described as retinitis pigmentosa and Leber congenital amaurosis, caused by biallelic variants in the RPE65 gene.
MONDO:0100369 iatrogenic or non-iatrogenic A iatrogenic or non-iatrogenic form of a disease.
MONDO:0100426 iatrogenic A characteristic of a diseae which results from diagnostic and therapeutic procedures undertaken on a patient.
MONDO:0100427 non-iatrogenic A characteristic of a diseae in which it does not result from diagnostic and therapeutic procedures undertaken on a patient.
MONDO:0100428 progressive bulbar palsy of childhood A progressive bulbar palsy of childhood that occurs during childhood.
MONDO:0100430 fibrotic liver disease A liver disease characterized by the presence of excessive fibrous connective tissue in the liver.
MONDO:0100431 migraine without aura A migraine disorder characterized by episodes that occur in the absence of preceding focal neurological symptoms.
MONDO:0100432 FNIP1-associated syndrome Any immunodeficiency in which the cause of the disease is a mutation in the FNIP1 gene. Disruption of Folliculin Interacting Protein 1 alters the essential metabolic regulators AMPK and mTOR, resulting in profound B-cell deficiency, hypertrophic cardiomyopathy, and pre-excitation syndrome.
MONDO:0100433 ACTB-associated syndromic thrombocytopenia A syndrome associated with developmental delay, mild intellectual disability, microcephaly, and thrombocytopenia with platelet anisotropy and enlarged platelets.
MONDO:0100435 Schwartz-Jampel syndrome type 1
MONDO:0100436 cataract 2, multiple types Any cataract in which the cause of the disease is a mutation in the CRYGC gene.
MONDO:0100437 RPGR retinopathy A retinopathy caused by a variant in the X-linked gene, RPGR.
MONDO:0100438 AIPL1 retinopathy A retinopathy caused by biallelic variants in the AIPL1 gene.
MONDO:0100439 glycogen storage disease IXa2 Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK in liver, but normal activity in erythrocytes.
MONDO:0100441 dominant GUCY2D retinopathy A retinopathy caused by a heterozygous gain of function or dominant-negative variant or in the GUCY2D gene.
MONDO:0100442 RP2 retinopathy A retinopathy caused by variants in the X-linked gene, RP2.
MONDO:0100443 RDH5 retinopathy A retinopathy caused by bialleleic variants in the RDH5 gene, often involving flecks in the retina.
MONDO:0100444 RLBP1 retinopathy A retinopathy caused by bialleleic variants in the RLBP1 gene, often involving flecks in the retina.
MONDO:0100445 LCA5 retinopathy A retinopathy caused by biallelic variants in the LCA5 gene.
MONDO:0100446 CNGB3 retinopathy A retinopathy caused by biallelic variants in the CNGB3 gene.
MONDO:0100447 ATF6 retinopathy A retinopathy caused by biallelic variants in the AFT6 gene.
MONDO:0100448 RAB28 retinopathy A retinopathy caused by biallelic variants in the RAB28 gene.
MONDO:0100449 FLVCR1 retinopathy with or without ataxia A disorder characterized by retinopathy with ataxia in most patients, caused by biallelic variants in the FLVCR1 gene.
MONDO:0100450 CAPN5 vitreoretinopathy An autosomal dominant vitreoretinopathy caused by variants in the CAPN5 gene. Additional features, such as developmental delay and hypotonia, have been reported in some patients.
MONDO:0100451 CEP290 ciliopathy A ciliopathy caused by biallelic variants in the CEP290 gene.
MONDO:0100452 dominant RPE65 retinopathy A retinopathy caused by a heterozygous gain of function variant in the RPE65 gene.
MONDO:0100453 recessive GUCY2D retinopathy A retinopathy caused by biallelic variants in the GUCY2D gene.
MONDO:0100454 GUCY2D retinopathy Any inherited retinal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene.
MONDO:0100455 neonatal-onset developmental and epileptic encephalopathy A complex neurodevelopmental disorder characterized by a neonatal onset of recurrent seizures, an abnormal neonatal electroencephalographic background with multifocal epileptiform discharges, excessive discontinuity, and/or burst-suppression patterns, and encephalopathy. Seizures may be pharmacoresistant or responsive. Developmental delays persist but vary in severity. In some individuals, subsequent evolution to other epileptic encephalopathy syndromes (e.g. West syndrome) may occur.
MONDO:0100456 neonatal encephalopathy with non-epileptic myoclonus A disorder characterized onset at birth of profound encephalopathy with hypotonia, Respiratory insufficiency central hypoventilation, a persistent suppression burst pattern of EEG background, and recurrent bouts of myoclonus that are not accompanied by epileptic discharges on electroencephalography. Evolution to pharmacoresistant seizures is common and continued profound global developmental delay.
MONDO:0700107 chromosome 19q13.11 deletion syndrome, distal Chromosome 19q13.11 deletion syndrome in which the distal region was deleted.
MONDO:8000006 WHIM syndrome 1 A congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma).
MONDO:8000008 Martsolf syndrome 1 This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
MONDO:8000010 antiphospholipid syndrome A disorder caused by the presence of autoantibodies directed against phospholipids, causing a hypercoaguable state, which may result in blood clots, stroke, heart attack, and in women, significant pregnancy-related complications, including miscarriage and still birth. The syndrome is often associated with other autoimmune disorders, most commonly lupus erythematosus, and infections, including syphilis and Lyme disease.
MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive A form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction.
MONDO:8000012 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1
MONDO:8000013 portal hypertension, noncirrhotic, 1
MONDO:8000014 familial antiphospholipid syndrome Autosomal dominant form of antiphospholipid syndrome.
MONDO:8000015 46,XY sex reversal 11 Any 46,XY complete gonadal dysgenesis in which the cause of the disease is a mutation in the DHX37 gene.
MONDO:8000017 testicular regression syndrome A developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development.
MONDO:8000018 benign paroxysmal positional vertigo Idiopathic recurrent vertigo associated with positional nystagmus. It is associated with a vestibular loss without other neurological or auditory signs. Unlike in labyrinthitis and vestibular neuronitis inflammation in the ear is not observed.
MONDO:8000019 vertigo, benign recurrent, 1

Changed terms

Changed label

Mondo ID Label Previous release New release
MONDO:0000030 sleep-related hypermotor epilepsy epilepsy, nocturnal frontal lobe sleep-related hypermotor epilepsy
MONDO:0019040 chromosomal disorder chromosomal anomaly chromosomal disorder
MONDO:0000839 obsolete congenital abnormality congenital abnormality obsolete congenital abnormality
MONDO:0024633 hypertensive nephropathy hypertensive renal disease hypertensive nephropathy
MONDO:0002176 obsolete connective tissue cancer connective tissue cancer obsolete connective tissue cancer
MONDO:0004914 celiac artery stenosis from compression by median arcuate ligament of diaphragm median arcuate ligament syndrome celiac artery stenosis from compression by median arcuate ligament of diaphragm
MONDO:0021199 obsolete disease by anatomical system disease by anatomical system obsolete disease by anatomical system
MONDO:0005547 obsolete desmoplastic medulloblastoma desmoplastic medulloblastoma obsolete desmoplastic medulloblastoma
MONDO:0005569 obsolete cartilage disease cartilage disease obsolete cartilage disease
MONDO:0006674 obsolete benign fibrous mesothelioma benign fibrous mesothelioma obsolete benign fibrous mesothelioma
MONDO:0006819 obsolete kernicterus kernicterus obsolete kernicterus
MONDO:0007140 obsolete antiphospholipid syndrome antiphospholipid syndrome obsolete antiphospholipid syndrome
MONDO:0022800 type 2 collagenopathy collagenopathy type 2 alpha 1 type 2 collagenopathy
MONDO:0017259 obsolete systemic diseases with anterior uveitis systemic diseases with anterior uveitis obsolete systemic diseases with anterior uveitis
MONDO:0017260 obsolete systemic diseases with posterior uveitis systemic diseases with posterior uveitis obsolete systemic diseases with posterior uveitis
MONDO:0017261 obsolete systemic diseases with panuveitis systemic diseases with panuveitis obsolete systemic diseases with panuveitis
MONDO:0007292 obsolete celiac artery stenosis from compression by median arcuate ligament of diaphragm celiac artery stenosis from compression by median arcuate ligament of diaphragm obsolete celiac artery stenosis from compression by median arcuate ligament of diaphragm
MONDO:0007640 Sorsby fundus dystrophy Sorsby's fundus dystrophy Sorsby fundus dystrophy
MONDO:0019686 obsolete type 2 collagen-related bone disorder type 2 collagen-related bone disorder obsolete type 2 collagen-related bone disorder
MONDO:0007889 obsolete lentigines lentigines obsolete lentigines
MONDO:0008656 obsolete benign paroxysmal positional nystagmus benign paroxysmal positional nystagmus obsolete benign paroxysmal positional nystagmus
MONDO:0008674 obsolete WHIM syndrome WHIM syndrome obsolete WHIM syndrome
MONDO:0008929 obsolete cataract-intellectual disability-hypogonadism syndrome cataract-intellectual disability-hypogonadism syndrome obsolete cataract-intellectual disability-hypogonadism syndrome
MONDO:0009466 obsolete neuronal intestinal pseudoobstruction neuronal intestinal pseudoobstruction obsolete neuronal intestinal pseudoobstruction
MONDO:0010107 obsolete testicular regression syndrome testicular regression syndrome obsolete testicular regression syndrome
MONDO:0010598 glycogen storage disease IXa1 glycogen storage disease IXa glycogen storage disease IXa1
MONDO:0011278 obsolete bile duct cysts bile duct cysts obsolete bile duct cysts
MONDO:0016215 spastic quadriplegic cerebral palsy spastic quadriplegia spastic quadriplegic cerebral palsy
MONDO:0011379 obsolete medullary cystic kidney disease 2 medullary cystic kidney disease 2 obsolete medullary cystic kidney disease 2
MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG Charcot-Marie-Tooth disease dominant intermediate A Charcot-Marie-Tooth Disease, axonal, type 2GG
MONDO:0011947 obsolete HNP1 HNP1 obsolete HNP1
MONDO:0012356 obsolete glomerulocystic kidney disease with hyperuricemia and isosthenuria glomerulocystic kidney disease with hyperuricemia and isosthenuria obsolete glomerulocystic kidney disease with hyperuricemia and isosthenuria
MONDO:0012461 obsolete bulimia nervosa, susceptibility to, 2 bulimia nervosa, susceptibility to, 2 obsolete bulimia nervosa, susceptibility to, 2
MONDO:0014424 obsolete congenital deficiency in alpha-fetoprotein congenital deficiency in alpha-fetoprotein obsolete congenital deficiency in alpha-fetoprotein
MONDO:0014425 obsolete hereditary persistence of alpha-fetoprotein hereditary persistence of alpha-fetoprotein obsolete hereditary persistence of alpha-fetoprotein
MONDO:0014554 obsolete infantile multisystem neurologic-endocrine-pancreatic disease infantile multisystem neurologic-endocrine-pancreatic disease obsolete infantile multisystem neurologic-endocrine-pancreatic disease
MONDO:0014897 obsolete portal hypertension, noncirrhotic portal hypertension, noncirrhotic obsolete portal hypertension, noncirrhotic
MONDO:0017368 obsolete systemic disease with skin involvement systemic disease with skin involvement obsolete systemic disease with skin involvement
MONDO:0015939 obsolete systemic autoimmune disease systemic autoimmune disease obsolete systemic autoimmune disease
MONDO:0016212 obsolete cyclosporosis cyclosporosis obsolete cyclosporosis
MONDO:0016788 obsolete genetic hyperferritinemia without iron overload genetic hyperferritinemia without iron overload obsolete genetic hyperferritinemia without iron overload
MONDO:0018651 obsolete lipoyl transferase 2 deficiency lipoyl transferase 2 deficiency obsolete lipoyl transferase 2 deficiency
MONDO:0018652 obsolete biological anomaly without phenotypic characterization biological anomaly without phenotypic characterization obsolete biological anomaly without phenotypic characterization
MONDO:0018805 bile duct cyst choledochal cyst bile duct cyst
MONDO:0020227 obsolete systemic disease with cataract systemic disease with cataract obsolete systemic disease with cataract
MONDO:0021194 obsolete disease by subcellular system affected disease by subcellular system affected obsolete disease by subcellular system affected
MONDO:0021195 obsolete disease by cellular process disrupted disease by cellular process disrupted obsolete disease by cellular process disrupted
MONDO:0021196 obsolete disease by molecular activity disrupted disease by molecular activity disrupted obsolete disease by molecular activity disrupted
MONDO:0021197 obsolete disease by cellular component affected disease by cellular component affected obsolete disease by cellular component affected
MONDO:0022399 retinal ciliopathy due to mutation in the RPGR gene retinal ciliopathy due to mutation in the rpgr gene retinal ciliopathy due to mutation in the RPGR gene
MONDO:0022546 obsolete basal cell nevus anodontia abnormal bone mineralization basal cell nevus anodontia abnormal bone mineralization obsolete basal cell nevus anodontia abnormal bone mineralization
MONDO:0022605 obsolete brachymetapody anodontia hypotrichosis albinoidism brachymetapody anodontia hypotrichosis albinoidism obsolete brachymetapody anodontia hypotrichosis albinoidism
MONDO:0023031 obsolete dysostosis acral with facial and genital abnormalities dysostosis acral with facial and genital abnormalities obsolete dysostosis acral with facial and genital abnormalities
MONDO:0024505 obsolete disorder by anatomical region disorder by anatomical region obsolete disorder by anatomical region
MONDO:0032600 Snijders Blok-Campeau syndrome snijders blok-campeau syndrome Snijders Blok-Campeau syndrome
MONDO:0044969 obsolete disease of membrane bound organelle disease of membrane bound organelle obsolete disease of membrane bound organelle
MONDO:0044971 obsolete disease of macromolecular complex disease of macromolecular complex obsolete disease of macromolecular complex
MONDO:0044974 obsolete disease of supramolecular complex disease of supramolecular complex obsolete disease of supramolecular complex
MONDO:0044975 obsolete disease of transporter activity disease of transporter activity obsolete disease of transporter activity
MONDO:0044976 obsolete disease of catalytic activity disease of catalytic activity obsolete disease of catalytic activity
MONDO:0044977 obsolete disease of receptor activity disease of receptor activity obsolete disease of receptor activity
MONDO:0044979 obsolete disease by cell type disease by cell type obsolete disease by cell type
MONDO:0044980 obsolete disease of signal transduction disease of signal transduction obsolete disease of signal transduction
MONDO:0045031 obsolete infectious diarrheal disease infectious diarrheal disease obsolete infectious diarrheal disease
MONDO:0100007 obsolete chronic inflammatory demyelinating polyneuropathy chronic inflammatory demyelinating polyneuropathy obsolete chronic inflammatory demyelinating polyneuropathy

Changed definition

Mondo ID Label Previous release New release
MONDO:0001029 Klippel-Feil syndrome Klippel Feil syndrome (KFS) is a congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This syndrome can cause chronic headaches as well as pain in both the neck and the back.Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these cases, people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy. A congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This syndrome can cause chronic headaches as well as pain in both the neck and the back.Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these cases, people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy.
MONDO:0003015 obsolete malignant biphasic mesothelioma A malignant form of malignant biphasic mesothelioma.
MONDO:0004027 obsolete embryonal cancer A germ cell cancer that is associated with an embryo.
MONDO:0005329 obsolete vascular sarcoma A sarcoma arising from vascular tissue including arteries, veins, venous sinuses, arterioles and capillaries.
MONDO:0005547 obsolete desmoplastic medulloblastoma A medulloblastoma characterized by the presence of nodular, collagenous areas which do not contain reticulin, surrounded by hypercellular areas which contain an intercellular reticulin fiber network.
MONDO:0005652 Arterivirus infectious disease Infections caused by viruses of the genus arterivirus. Infections caused by viruses of the family arteriviridae.
MONDO:0017767 rheumatic fever Rheumatic fever (RF) is a multisystem inflammatory disease occurring as a post-infectious, nonsuppurative sequela of untreated streptococcus pyogenes (Group A streptococcus [GAS]) pharyngitis, and mainly occurs in individuals aged 5 to 15 years. The most common presenting signs are fever, migratory polyarthritis and carditis. A post-bacterial multisystem inflammatory disease occurring as a post-infectious, nonsuppurative sequela of untreated streptococcus pyogenes (Group A streptococcus [GAS]) pharyngitis, and mainly occurs in individuals aged 5 to 15 years. The most common presenting signs are fever, migratory polyarthritis and carditis.
MONDO:0006703 obsolete chronic interstitial cystitis Chronic form of interstitial cystitis.
MONDO:0006819 obsolete kernicterus A rare neurologic disorder occurring in infants with jaundice. It results from brain damage by existing high levels of unconjugated-indirect bilirubin.
MONDO:0007039 neurofibromatosis type 2 Neurofibromatosis type 2 (NF2) is a tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas. A tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas.
MONDO:0007064 adenosine deaminase deficiency Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections. A form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.
MONDO:0016241 alternating hemiplegia of childhood Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment. A rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment.
MONDO:0007140 obsolete antiphospholipid syndrome A disorder caused by the presence of autoantibodies directed against phospholipids, causing a hypercoaguable state, which may result in blood clots, stroke, heart attack, and in women, significant pregnancy-related complications, including miscarriage and still birth. The syndrome is often associated with other autoimmune disorders, most commonly lupus erythematosus, and infections, including syphilis and Lyme disease.
MONDO:0007191 Behcet disease Bechet disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations. A chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.
MONDO:0007356 Lynch syndrome 1 A rare genetic neoplastic syndrome with an autosomal dominant pattern of inheritance but incomplete penetrance. It is associated with a greater than 70 % risk of developing colorectal carcinoma. It is caused by a mutation in one of the mismatch repair genes: MSH2, MLH1, MSH6 or PMS2. It usually manifests at age 50 or younger with multiple synchronous or metachronous colorectal carcinomas. Clinical course is rapidly progressive. Prognosis is variable with a high risk for the development of additional colorectal carcinomas. However, survival is significantly better than non-HNPCC carcinomas of equivalent stage. Any Lynch syndrome in which the cause of the disease is a mutation in the MSH2 gene.
MONDO:0007640 Sorsby fundus dystrophy Sorsby's fundus dystrophy is a rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness. A rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness.
MONDO:0007889 obsolete lentigines Small circumscribed melanoses resembling, but differing histologically from, freckles. The concept includes senile lentigo ('liver spots') and nevoid lentigo (nevus spilus, lentigo simplex) and may also occur in association with multiple congenital defects or congenital syndromes (e.g., Peutz-Jeghers syndrome).
MONDO:0008061 nail-patella syndrome Nail-patella syndrome (NPS) is a rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies. A rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.
MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 Familial juvenile hyperuricemic nephropathy type 1 (FJHN1) is a rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age. A rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age.
MONDO:0019341 tuberous sclerosis complex Tuberous sclerosis complex (TSC) is a neurocutaneous disorder characterized by multisystem hamartomas and associated with neuropsychiatric features. A neurocutaneous disorder characterized by multisystem hamartomas and associated with neuropsychiatric features.
MONDO:0008656 obsolete benign paroxysmal positional nystagmus Idiopathic recurrent vertigo associated with positional nystagmus. It is associated with a vestibular loss without other neurological or auditory signs. Unlike in labyrinthitis and vestibular neuronitis inflammation in the ear is not observed.
MONDO:0008674 obsolete WHIM syndrome WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma).
MONDO:0015129 chronic primary adrenal insufficiency Chronic primary adrenal insufficiency (CPAI) is a chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones. A chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones.
MONDO:0008884 oculoosteocutaneous syndrome Oculoosteocutaneous syndrome is characterised by congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive. A syndrome is characterised by congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive.
MONDO:0008891 riboflavin transporter deficiency Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy. A progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy.
MONDO:0008929 obsolete cataract-intellectual disability-hypogonadism syndrome This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
MONDO:0009466 obsolete neuronal intestinal pseudoobstruction A form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction.
MONDO:0009685 Miyoshi myopathy Miyoshi myopathy (MM) is a distal myopathy, characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes. A distal myopathy, characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes.
MONDO:0009717 Schwartz-Jampel syndrome Schwartz-Jampel syndrome (SJS) is characterised by myotonia and osteoarticular abnormalities. A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia).
MONDO:0010107 obsolete testicular regression syndrome Testicular regression syndrome (TRS) is a developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development.
MONDO:0010209 xanthinuria type I Type I xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer. A rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer.
MONDO:0010535 Bazex-Dupre-Christol syndrome Bazex-Dupre-Christol syndrome is a rare genodermatosis with a predisposition to early-onset basal cell carcinomas. Bazex-Dupre-Christol syndrome is a rare genodermatosis (hereditary skin disease) with a predisposition to early-onset basal cell carcinomas.
MONDO:0010598 glycogen storage disease IXa1 Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene. Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK activity in liver or erythrocytes.
MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Severe combined immunodeficiency due to complete RAG1/2 deficiency is a rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia. A rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia.
MONDO:0011108 Stüve-Wiedemann syndrome Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality. A rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.
MONDO:0011338 Omenn syndrome Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID). An inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID).
MONDO:0011379 obsolete medullary cystic kidney disease 2 An inherited form of cystic kidney disease leading to fibrosis and impaired renal function that is caused by mutations in the UMOD gene, which encodes uromodulin/Tamm-Horsfall mucoprotein.
MONDO:0011838 Bothnia retinal dystrophy Bothnia retinal dystrophy is a rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens in the posterior pole are also noted. A rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens in the posterior pole are also noted.
MONDO:0011910 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C Autosomal dominant limb-girdle muscular dystrophy type 1C (LGMD1C) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by a childhood to adulthood onset of progressive, mild-to-moderate proximal muscle weakness, calf hypertrophy, and variable muscle cramping/stiffness or myalgia, after exercise. A positive Gowers sign and elevated creatine kinase serum levels are frequently observed. Initial motor milestones are usually normal and muscle rippling may be observed. Respiratory and cardiac anomalies are generally not associated with LGMD1C.
MONDO:0011988 neutrophil immunodeficiency syndrome Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas. A primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas.
MONDO:0012249 colorectal cancer, hereditary nonpolyposis, type 2 A rare genetic neoplastic syndrome with an autosomal dominant pattern of inheritance but incomplete penetrance. It is associated with an inherited risk for malignancy, in particular, colorectal, endometrial or gastric carcinoma. It is caused by mutations in one of the mismatch repair genes: MSH2, MLH1, MSH6 or PMS2. It usually manifests at age 50 or younger with multiple synchronous or metachronous proximal colonic or extracolonic cancers. Clinical course is rapidly progressive. Prognosis is variable with high risk for development of gastrointestinal, reproductive or urinary tract cancer. However, survival is significantly better than non-HNPCC carcinomas of equivalent stage. Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH1 gene.
MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia. A form of combined T and B cell immunodeficiency (CID) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.
MONDO:0012455 Kleefstra syndrome Kleefstra syndrome (KS) is a genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features. A genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features.
MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L Autosomal recessive limb-girdle muscular dystrophy type 2L (LGMD2L) is a form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. However, calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood. A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. However, calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood.
MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M Autosomal recessive limb-girdle muscular dystrophy type 2M (LGMD2M) is a form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases. A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.
MONDO:0013056 developmental and epileptic encephalopathy, 39 Epileptic encephalopathy with global cerebral demyelination is a rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease. A rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.
MONDO:0013389 developmental and epileptic encephalopathy, 12 Early Infantile Epileptic Encephalopathy type 12 (EIEE12) is an extremely rare nervous system disorder. Infants with EIEE12 develop very frequent epileptic seizures. Seizures present within the first days to months of life. Seizures may trigger eye rolling, eyelid fluttering, lip smacking, drooling, bluish coloring around the mouth, limpness, or muscle stiffening (particularly those in his or her back, legs, and arms). The seizures associated with this disease are difficult to treat and the syndrome is severely progressive. EIEE12 occurs when a child inherits two mutations in the PLCB1 gene (one from each parent). EIEE12 is inherited in an autosomal recessive fashion. An extremely rare nervous system disorder. Infants with EIEE12 develop very frequent epileptic seizures. Seizures present within the first days to months of life. Seizures may trigger eye rolling, eyelid fluttering, lip smacking, drooling, bluish coloring around the mouth, limpness, or muscle stiffening (particularly those in his or her back, legs, and arms). The seizures associated with this disease are difficult to treat and the syndrome is severely progressive. EIEE12 occurs when a child inherits two mutations in the PLCB1 gene (one from each parent). EIEE12 is inherited in an autosomal recessive fashion.
MONDO:0014972 chromosome 19q13.11 deletion syndrome, proximal Chromosome 19q13.11 deletion syndrome in which the proximal region was deleted.
MONDO:0016212 obsolete cyclosporosis Cyclosporosis is a parasitic disease caused by Cyclospora cayetanensis, a recently discovered coccidia that was initially described in Peru and then in most intertropical zones. Infection occurs through ingestion of contaminated food or water and leads to abdominal pain, anorexia and diarrhoea, which may resolve spontaneously in immunocompetent individuals but may persist in a chronic form in immunocompromised subjects, leading to a decline in their general state of health.
MONDO:0016645 obsolete rare neoplastic disease Either a rare isolated neoplasm or a syndrome with neoplasm as a major feature.
MONDO:0016711 desmoplastic/nodular medulloblastoma Desmoplastic/nodular medulloblastoma is a histological variant of medulloblastoma, an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache. A histological variant of medulloblastoma, an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache.
MONDO:0017648 Sydenham chorea A neurological disorder characterized by rapid, jerky, irregular, and involuntary movements (chorea), especially of the face and limbs. Additional symptoms may include muscle weakness, slurred speech, headaches, and seizures.
MONDO:0018092 Vogt-Koyanagi-Harada disease Vogt-Koyanagi-Harada disease is a bilateral, chronic, diffuse granulomatous panuveitis typically characterized by serous retinal detachment and frequently associated with neurological (meningitis), auditory, and dermatological alterations. A bilateral, chronic, diffuse granulomatous panuveitis typically characterized by serous retinal detachment and frequently associated with neurological (meningitis), auditory, and dermatological alterations.
MONDO:0018304 Schnitzler syndrome Schnitzler syndrome is a rare, underdiagnosed disorder in adults characterized by recurrent febrile rash, bone and/or joint pain, enlarged lymph nodes, fatigue, a monoclonal IgM component, leukocytosis and systemic inflammatory response. A rare, underdiagnosed disorder in adults characterized by recurrent febrile rash, bone and/or joint pain, enlarged lymph nodes, fatigue, a monoclonal IgM component, leukocytosis and systemic inflammatory response.
MONDO:0018540 PFAPA syndrome PFAPA (Periodic fever - aphthous stomatitis- pharyngitis - adenopathy) syndrome is an auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis. An auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis.
MONDO:0019744 obsolete rare renal tubular disease Any disease in which the causes of the disease is a perturbation of the renal tubule leading to its dysfunction.
MONDO:0100007 obsolete chronic inflammatory demyelinating polyneuropathy A chronic monophasic, progressive or relapsing symmetric sensorimotor disorder characterized by progressive muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins.

Obsoletion candidates

New obsoletion candidates:

Mondo ID Label
MONDO:0015572 cerebral malformation due to abnormal neuronal migration
MONDO:0015945 polymalformative genetic syndrome with increased risk of developing cancer
MONDO:0015656 metabolic disease with epilepsy
MONDO:0015919 syndromic neurometabolic disease with non-X-linked intellectual disability
MONDO:0018132 congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
MONDO:0018284 congenital disorder of glycosylation with neurological involvement
MONDO:0018296 congenital disorder of glycosylation with developmental anomaly
MONDO:0020259 myopathy with eye involvement
MONDO:0017272 autosomal ichthyosis syndrome with prominent neurologics signs
MONDO:0017273 autosomal ichthyosis syndrome with fatal disease course
MONDO:0015336 malformation syndrome with odontal and/or periodontal component
MONDO:0016401 energy metabolism disorder with epilepsy
MONDO:0018157 mitochondrial disorder due to a defect in mitochondrial protein synthesis
MONDO:0019706 lysosomal storage disease with skeletal involvement
MONDO:0020279 metabolic disease with corneal opacity
MONDO:0017646 neurodegenerative disease with chorea
MONDO:0017028 secondary interstitial lung disease specific to adulthood associated with a systemic disease
MONDO:0017635 parkinsonian syndrome due to neurodegenerative disease
MONDO:0015218 syndromic developmental defect of the eye
MONDO:0020253 syndrome with a symptomatic strabismus
MONDO:0018271 peripheral primitive neuroectodermal tumor
MONDO:0015136 immunodeficiency due to a genetic complement cascade protein anomaly
MONDO:0004058 pancreatic cholera
MONDO:0018407 male infertility due to obstructive azoospermia of genetic origin
MONDO:0017390 methylmalonic acidemia without homocystinuria
MONDO:0015188 metabolic disease with intestinal involvement
MONDO:0017841 autoimmune disease with skin involvement
MONDO:0016104 infectious disease with peripheral neuropathy
MONDO:0020091 male infertility due to obstructive azoospermia
MONDO:0016180 hematological disease associated with an acquired peripheral neuropathy
MONDO:0020142 metabolic disease with dementia
MONDO:0015659 infectious disease with epilepsy
MONDO:0015928 secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease
MONDO:0016177 systemic inflammatory disease associated with an acquired peripheral neuropathy
MONDO:0015220 syndrome with a central nervous system malformation as major feature
MONDO:0018627 ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor
MONDO:0020090 male infertility due to gonadal dysgenesis
MONDO:0017641 miscellaneous movement disorder due to neurodegenerative disease
MONDO:0015495 otomandibular dysplasia associated with monogenic syndromes
MONDO:0017432 syndrome with limb reduction defects
MONDO:0016436 acquired dermis elastic tissue disorder with increased elastic tissue
MONDO:0017434 syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
MONDO:0020276 pigmentation disorder with eye involvement, excluding albinism
MONDO:0020232 musculoskeletal disease with cataract
MONDO:0007089 Alzheimer disease 2
MONDO:0015658 cerebral diseases of vascular origin with epilepsy
MONDO:0020063 malformation syndrome with hamartosis
MONDO:0019066 syndrome with brachydactyly
MONDO:0019715 syndrome with synostosis or other joint formation defect
MONDO:0015657 inflammatory and autoimmune disease with epilepsy
MONDO:0017370 autoinflammatory syndrome with skin involvement
MONDO:0017311 rare disease with thoracic aortic aneurysm and aortic dissection
MONDO:0015331 malformation syndrome with skin/mucosae involvement
MONDO:0020042 syndrome with 46,XY disorder of sex development
MONDO:0017369 autoinflammatory syndrome with immune deficiency
MONDO:0018727 immunodeficiency due to a complement regulatory deficiency
MONDO:0017121 syndrome with a Dandy-Walker malformation as major feature
MONDO:0017662 miscellaneous movement disorder due to genetic neurodegenerative disease
MONDO:0020226 chromosomal anomaly with cataract
MONDO:0017038 secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis
MONDO:0015329 malformation syndrome with short stature
MONDO:0018293 congenital disorder of glycosylation with skin involvement
MONDO:0015895 syndrome with hypoparathyroidism
MONDO:0019827 disease associated with non-acquired combined pituitary hormone deficiency
MONDO:0019305 immune deficiency with skin involvement
MONDO:0007821 immunoglobulin switch sequences
MONDO:0016235 complex vascular malformation with associated anomalies
MONDO:0017119 syndrome with microcephaly as major feature
MONDO:0017017 primary interstitial lung disease specific to childhood due to alveolar vascular disorder
MONDO:0017965 syndrome with 46,XX disorder of sex development
MONDO:0017021 secondary interstitial lung disease specific to childhood associated with a connective tissue disease
MONDO:0020274 onycho-patellar syndrome with eye involvement
MONDO:0016799 mitochondrial oxidative phosphorylation disorder with no known mechanism
MONDO:0019301 metabolic disease with skin involvement
MONDO:0018790 COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy
MONDO:0018398 female infertility due to a congenital hypogonadotropic hypogonadism
MONDO:0015651 neurocutaneous syndrome with epilepsy
MONDO:0018549 late-onset scapuloperoneal muscular dystrophy with hyaline bodies
MONDO:0015710 immune dysregulation disease with immunodeficiency
MONDO:0020182 palpebral tumor with a vascular malformation
MONDO:0017023 secondary interstitial lung disease specific to childhood associated with a granulomatous disease
MONDO:0019859 congenital thyroid malformation without hypothyroidism
MONDO:0020103 constitutional hemolytic anemia due to acanthocytosis
MONDO:0020281 metabolic disease with pigmentary retinitis
MONDO:0019595 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
MONDO:0016402 mitochondrial disease with epilepsy
MONDO:0016403 mitochondrial disease with peripheral neuropathy
MONDO:0020098 constitutional anemia due to iron metabolism disorder
MONDO:0017118 syndrome with a cerebellar malformation as major feature
MONDO:0016397 lysosomal disease with epilepsy
MONDO:0020045 autosomal recessive cerebellar ataxia due to a DNA repair defect
MONDO:0018288 congenital disorder of glycosylation with hepatic involvement
MONDO:0016328 fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy
MONDO:0016336 fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy
MONDO:0016327 mitochondrial disease with hypertrophic cardiomyopathy
MONDO:0018120 disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement
MONDO:0020231 cardiac disease with cataract
MONDO:0020233 dentocutaneous disease with cataract
MONDO:0015581 bile acid synthesis defect with cholestasis and malabsorption
MONDO:0016405 sterol metabolism disorder with epilepsy
MONDO:0020280 metabolic disease with cataract
MONDO:0018042 immunodeficiency syndrome with abnormal pigmentation
MONDO:0018036 immunodeficiency due to absence of thymus
MONDO:0020106 hemolytic anemia due to a disorder of glycolytic enzymes
MONDO:0015181 congenital intestinal disease due to an enzymatic defect
MONDO:0016628 hemorrhagic disorder due to a coagulation factors defect
MONDO:0018035 syndrome with combined immunodeficiency
MONDO:0020111 constitutional megaloblastic anemia due to folate metabolism disorder
MONDO:0016326 lysosomal disease with hypertrophic cardiomyopathy
MONDO:0020105 hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies
MONDO:0016341 lysosomal disease with restrictive cardiomyopathy
MONDO:0017037 secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease
MONDO:0017024 secondary interstitial lung disease specific to childhood associated with a metabolic disease
MONDO:0009278 hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
MONDO:0016325 glycogen storage disease with hypertrophic cardiomyopathy
MONDO:0018402 female infertility due to gonadal dysgenesis
MONDO:0017035 secondary interstitial lung disease in childhood and adulthood associated with a systemic disease
MONDO:0018118 disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
MONDO:0016399 amino acid or protein metabolism disease with epilepsy
MONDO:0015709 immunodeficiency syndrome with autoimmunity
MONDO:0017693 glycogen storage disease due to glycogen synthase deficiency
MONDO:0015877 malformative syndrome with dentinogenesis imperfecta
MONDO:0017717 metabolic disease due to other fatty acid oxidation disorder
MONDO:0020228 cataract associated with a metabolic disease
MONDO:0016136 cerebellar ataxia with peripheral neuropathy
MONDO:0020229 cerebral disease with cataract
MONDO:0016334 neuromuscular disease with dilated cardiomyopathy
MONDO:0017718 mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
MONDO:0016578 mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
MONDO:0020265 mitochondrial disease with eye involvement
MONDO:0017271 autosomal ichthyosis syndrome with prominent hair abnormalities
MONDO:0020267 genetic keratinization disorder associated with ocular features
MONDO:0020282 metabolic disease with macular cherry-red spot
MONDO:0018104 Torg-Winchester syndrome
MONDO:0020109 constitutional megaloblastic anemia due to vitamin B12 metabolism disorder
MONDO:0018251 glycogen storage disease due to phosphorylase kinase deficiency
MONDO:0019596 46,XY disorder of sex development due to testicular steroidogenesis defect
MONDO:0016398 peroxisomal disease with epilepsy
MONDO:0020041 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue
MONDO:0015052 primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
MONDO:0020107 hemolytic anemia due to an erythrocyte nucleotide metabolism disorder
MONDO:0017016 primary interstitial lung disease specific to childhood due to alveolar structure disorder
MONDO:0015655 cerebral malformation with epilepsy
MONDO:0017971 46,XY disorder of sex development due to a cholesterol synthesis defect
MONDO:0019856 primary congenital hypothyroidism without thyroid developmental anomaly
MONDO:0016400 metal transport or utilization disorder with epilepsy
MONDO:0018558 syndrome with woolly hair
MONDO:0015920 syndromic neurometabolic disease with X-linked intellectual disability
MONDO:0010330 primary ciliary dyskinesia-retinitis pigmentosa syndrome
MONDO:0016335 mitochondrial disease with dilated cardiomyopathy
MONDO:0020230 renal disease with cataract
MONDO:0016492 beta-thalassemia with other manifestations
MONDO:0016793 mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
MONDO:0016792 mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA
MONDO:0016795 mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA
MONDO:0015825 obesity due to congenital leptin resistance
MONDO:0020217 secondary dysgenetic glaucoma associated with neural crest cell migration anomaly
MONDO:0019717 chromosomal disease with overgrowth
MONDO:0018291 congenital disorder of glycosylation with intestinal involvement
MONDO:0019747 hematological disorder with renal involvement
MONDO:0018718 vascular tumor with associated anomalies
MONDO:0017333 hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism
MONDO:0018289 congenital disorder of glycosylation with dilated cardiomyopathy
MONDO:0018162 neurometabolic disorder due to serine deficiency
MONDO:0018395 male infertility due to sperm motility disorder
MONDO:0017898 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency
MONDO:0020101 constitutional hemolytic anemia due to membrane defect
MONDO:0020078 acute myeloid leukemia with recurrent genetic anomaly
MONDO:0018119 disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement
MONDO:0015922 channelopathy with epilepsy
MONDO:0015789 non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations
MONDO:0018618 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect
MONDO:0017956 mixed autoinflammatory and autoimmune syndrome
MONDO:0017897 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
MONDO:0017899 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
MONDO:0018444 female infertility due to fertilization defect
MONDO:0017020 secondary interstitial lung disease specific to childhood associated with a systemic disease
MONDO:0017643 frontotemporal neurodegeneration with movement disorder
MONDO:0015081 neuroendocrine tumor with other location
MONDO:0020266 genodermatosis with ocular features
MONDO:0020138 ataxia with dementia
MONDO:0018391 male infertility with spermatogenesis disorder
MONDO:0015654 idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes
MONDO:0015711 specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells
MONDO:0018403 female infertility due to an implantation defect
MONDO:0017033 primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder
MONDO:0017952 non-familial rare disease with dilated cardiomyopathy
MONDO:0016137 acute and subacute inflammatory demyelinating polyneuropathy
MONDO:0016178 peripheral neuropathy associated with monoclonal gammopathy
MONDO:0016181 solid tumor associated with an acquired peripheral neuropathy
MONDO:0017032 primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder
MONDO:0020273 disease with potential neoplastic degeneration associated with ocular features
MONDO:0016435 acquired dermis elastic tissue disorder with decreased elastic tissue
MONDO:0016488 beta-thalassemia associated with another hemoglobin anomaly
MONDO:0016704 glial tumor of neuroepithelial tissue with unknown origin
MONDO:0016791 mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies
MONDO:0017022 secondary interstitial lung disease specific to childhood associated with a systemic vasculitis
MONDO:0017150 pulmonary arterial hypertension associated with another disease
MONDO:0017151 pulmonary arterial hypertension associated with connective tissue disease
MONDO:0017152 pulmonary arterial hypertension associated with congenital heart disease
MONDO:0017153 pulmonary arterial hypertension associated with HIV infection
MONDO:0017154 pulmonary arterial hypertension associated with portal hypertension
MONDO:0017155 pulmonary arterial hypertension associated with schistosomiasis
MONDO:0017156 pulmonary arterial hypertension associated with chronic hemolytic anemia
MONDO:0017158 pulmonary hypertension with unclear multifactorial mechanism
MONDO:0020137 frontotemporal degeneration with dementia
MONDO:0017163 hemolytic disease due to fetomaternal alloimmunization
MONDO:0017274 obsolete autosomal ichthyosis syndrome with other associated signs
MONDO:0017647 postinfectious autoimmune disease with chorea
MONDO:0018414 female infertility due to an implantation defect of genetic origin
MONDO:0017970 46,XY disorder of sex development due to impaired androgen production
MONDO:0019594 46,XY disorder of sex development due to a testosterone synthesis defect
MONDO:0018390 male infertility due to sperm disorder
MONDO:0018389 male infertility due to gonadal dysgenesis or sperm disorder
MONDO:0018392 male infertility with spermatogenesis disorder due to single gene mutation
MONDO:0018789 COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy
MONDO:0019853 congenital hypothyroidism due to developmental anomaly
MONDO:0020278 metabolic disease associated with ocular features
MONDO:0020270 pigmentation disorder with eye involvement
MONDO:0022200 treatment for disease
MONDO:0022201 has treatment by surgery
MONDO:0024348 pityriasis capitis
MONDO:0026782 chondrodysplasia punctata 2, X-linked dominant
MONDO:0027750 serpinopathy with toxic serpin polymerization
MONDO:0027751 serpinopathy with loss of serpin function
MONDO:0033967 immune dysregulation with inflammatory bowel disease
MONDO:0100106 neonatal epileptic encephalopathy

Terms that were previously candidate for obsoletion and are now not anymore:

No changes.

Obsoletions

Mondo ID Label
MONDO:0000839 obsolete congenital abnormality
MONDO:0002176 obsolete connective tissue cancer
MONDO:0021199 obsolete disease by anatomical system
MONDO:0005547 obsolete desmoplastic medulloblastoma
MONDO:0005569 obsolete cartilage disease
MONDO:0006674 obsolete benign fibrous mesothelioma
MONDO:0006819 obsolete kernicterus
MONDO:0007140 obsolete antiphospholipid syndrome
MONDO:0017259 obsolete systemic diseases with anterior uveitis
MONDO:0017260 obsolete systemic diseases with posterior uveitis
MONDO:0017261 obsolete systemic diseases with panuveitis
MONDO:0007292 obsolete celiac artery stenosis from compression by median arcuate ligament of diaphragm
MONDO:0019686 obsolete type 2 collagen-related bone disorder
MONDO:0007889 obsolete lentigines
MONDO:0008656 obsolete benign paroxysmal positional nystagmus
MONDO:0008674 obsolete WHIM syndrome
MONDO:0008929 obsolete cataract-intellectual disability-hypogonadism syndrome
MONDO:0009466 obsolete neuronal intestinal pseudoobstruction
MONDO:0010107 obsolete testicular regression syndrome
MONDO:0011278 obsolete bile duct cysts
MONDO:0011379 obsolete medullary cystic kidney disease 2
MONDO:0011947 obsolete HNP1
MONDO:0012356 obsolete glomerulocystic kidney disease with hyperuricemia and isosthenuria
MONDO:0012461 obsolete bulimia nervosa, susceptibility to, 2
MONDO:0014424 obsolete congenital deficiency in alpha-fetoprotein
MONDO:0014425 obsolete hereditary persistence of alpha-fetoprotein
MONDO:0014554 obsolete infantile multisystem neurologic-endocrine-pancreatic disease
MONDO:0014897 obsolete portal hypertension, noncirrhotic
MONDO:0017368 obsolete systemic disease with skin involvement
MONDO:0015939 obsolete systemic autoimmune disease
MONDO:0016212 obsolete cyclosporosis
MONDO:0016788 obsolete genetic hyperferritinemia without iron overload
MONDO:0018651 obsolete lipoyl transferase 2 deficiency
MONDO:0018652 obsolete biological anomaly without phenotypic characterization
MONDO:0020227 obsolete systemic disease with cataract
MONDO:0021194 obsolete disease by subcellular system affected
MONDO:0021195 obsolete disease by cellular process disrupted
MONDO:0021196 obsolete disease by molecular activity disrupted
MONDO:0021197 obsolete disease by cellular component affected
MONDO:0022546 obsolete basal cell nevus anodontia abnormal bone mineralization
MONDO:0022605 obsolete brachymetapody anodontia hypotrichosis albinoidism
MONDO:0023031 obsolete dysostosis acral with facial and genital abnormalities
MONDO:0024505 obsolete disorder by anatomical region
MONDO:0044969 obsolete disease of membrane bound organelle
MONDO:0044971 obsolete disease of macromolecular complex
MONDO:0044974 obsolete disease of supramolecular complex
MONDO:0044975 obsolete disease of transporter activity
MONDO:0044976 obsolete disease of catalytic activity
MONDO:0044977 obsolete disease of receptor activity
MONDO:0044979 obsolete disease by cell type
MONDO:0044980 obsolete disease of signal transduction
MONDO:0045031 obsolete infectious diarrheal disease
MONDO:0100007 obsolete chronic inflammatory demyelinating polyneuropathy
c92292b
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Overview:

  • Number of new terms: 181
  • Number of changed labels: 44
  • Number of changed definitions: 45
  • Number obsoleted terms: 22
  • Number of new obsoletion candidates: 49
  • Number of terms who were previously candidate for obsoletion and are now not anymore: 21

New terms

Mondo ID Label Definition Obsoletion candidate? Obsolete
MONDO:0023670 Bardet-Biedl syndrome 20
MONDO:0030258 pontocerebellar hypoplasia, type 14
MONDO:0030259 pontocerebellar hypoplasia, type 15
MONDO:0030260 pontocerebellar hypoplasia, type 1E
MONDO:0030261 pontocerebellar hypoplasia, type 1F
MONDO:0030263 leukodystrophy, hypomyelinating, 21
MONDO:0030266 immunodeficiency 80 with or without congenital cardiomyopathy
MONDO:0030268 developmental and epileptic encephalopathy 6B
MONDO:0030270 lymphatic malformation 9
MONDO:0030281 arthrogryposis multiplex congenita 6
MONDO:0030293 angioedema, hereditary, 5
MONDO:0030294 megacystis-microcolon-intestinal hypoperistalsis syndrome 3
MONDO:0030296 megacystis-microcolon-intestinal hypoperistalsis syndrome 4
MONDO:0030298 angioedema, hereditary, 8
MONDO:0030300 cardiomyopathy, dilated, 2D
MONDO:0030302 immunodeficiency 81
MONDO:0030307 spermatogenic failure 55
MONDO:0030308 immunodeficiency 82 with systemic inflammation
MONDO:0030309 Leber hereditary optic neuropathy, autosomal recessive
MONDO:0030311 combined oxidative phosphorylation deficiency 52
MONDO:0030312 spinocerebellar ataxia, autosomal recessive 29
MONDO:0030313 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10
MONDO:0030314 inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive
MONDO:0030316 lymphatic malformation 11
MONDO:0030317 cardiomyopathy, familial hypertrophic, 28
MONDO:0030318 spinocerebellar ataxia, autosomal recessive 30
MONDO:0030323 spinocerebellar ataxia, autosomal recessive 31
MONDO:0030326 mitochondrial dna depletion syndrome 16B (neuroophthalmic type)
MONDO:0030329 megacystis-microcolon-intestinal hypoperistalsis syndrome 5
MONDO:0030330 cardiomyopathy, familial restrictive, 6
MONDO:0030331 Ritscher-Schinzel syndrome 4
MONDO:0030332 ciliary dyskinesia, primary, 46
MONDO:0030333 immunodeficiency 84
MONDO:0030334 encephalitis, acute, infection (viral)-induced, susceptibility to, 11
MONDO:0030335 diarrhea 12, with microvillus atrophy
MONDO:0030337 cutis laxa, autosomal recessive, type 2E
MONDO:0030338 anencephaly 2
MONDO:0030339 microcephaly 28, primary, autosomal recessive
MONDO:0030341 myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive
MONDO:0030346 ciliary dyskinesia, primary, 47, and lissencephaly
MONDO:0030353 Joubert syndrome 38
MONDO:0030354 facioscapulohumeral muscular dystrophy 3, digenic
MONDO:0030355 facioscapulohumeral muscular dystrophy 4, digenic
MONDO:0030356 short-rib thoracic dysplasia 21 without polydactyly
MONDO:0030360 cholestasis, progressive familial intrahepatic, 6
MONDO:0030361 Aicardi-Goutieres syndrome 8
MONDO:0030362 Aicardi-Goutieres syndrome 9
MONDO:0030366 cardiomyopathy, dilated, 2E
MONDO:0100365 mucopolysaccharidosis or mucopolysaccharidosis-like disorder Any disease that presents as a mucopolysaccharidosis or mucopolysaccharidosis-like disorder.
MONDO:0100366 occupational disorder Any disorder that is realized in response to an exposure to occupation.
MONDO:0100367 port-wine nevi-mega cisterna magna-hydrocephalus syndrome A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
MONDO:0100429 intrahepatic cholestasis of pregnancy A cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery.
MONDO:0600030 B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) A B-cell acute leukemia characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1. It occurs in children and less often in adults.
MONDO:8000000 infectious discitis An infection of the intervertebral disc space.
MONDO:8000001 staphylococcus discitis Discitis caused by infection with Staphylococcus.
MONDO:8000002 escherichia coli discitis Discitis caused by infection with Escherichia coli.
MONDO:8000003 streptococcus pneumoniae discitis Discitis caused by infection with Streptococcus pneumoniae.
MONDO:8000004 salmonella discitis Discitis caused by infection with Salmonella.
MONDO:8000005 fungal discitis Discitis caused by infection with fungi.

Changed terms

Changed label

Mondo ID Previous release New release
MONDO:0007665 primary open angle glaucoma glaucoma 1, open angle, E
MONDO:0019313 hereditary lymphedema lymphatic malformation
MONDO:0007883 lazy leukocyte syndrome periodic fever, immunodeficiency, and thrombocytopenia syndrome
MONDO:0007919 lymphedema, hereditary, 1A lymphatic malformation 1
MONDO:0007920 Meige disease lymphatic malformation 5
MONDO:0007964 dysplastic nevus syndrome melanoma, cutaneous malignant, susceptibility to, 2
MONDO:0008233 phaeochromocytoma pheochromocytoma
MONDO:0009852 congenital intrinsic factor deficiency hereditary intrinsic factor deficiency
MONDO:0010118 Threoninemia inherited threoninemia
MONDO:0010301 thrombocythemia, X-linked obsolete thrombocythemia, X-linked
MONDO:0011293 Homocysteinemia obsolete Homocysteinemia
MONDO:0012317 visceral neuropathy, familial, autosomal dominant visceral neuropathy, familial, 3, autosomal dominant
MONDO:0012765 lymphedema, hereditary, 1B lymphatic malformation 2
MONDO:0012842 CMM7 melanoma, cutaneous malignant, susceptibility to, 7
MONDO:0012892 connective tissue disorder due to lysyl hydroxylase-3 deficiency bone fragility with contractures, arterial rupture, and deafness
MONDO:0013278 lymphedema, hereditary, 1C lymphatic malformation 3
MONDO:0013759 MITF-related melanoma and renal cell carcinoma predisposition syndrome melanoma, cutaneous malignant, susceptibility to, 8
MONDO:0013995 cholestasis, intrahepatic, of pregnancy 3 cholestasis, intrahepatic, of pregnancy, 3
MONDO:0014393 lymphedema, hereditary, 1D lymphatic malformation 4
MONDO:0014797 lymphedema, hereditary, type III lymphatic malformation 6
MONDO:0014926 Bardet-Biedl syndrome 20 Bardet-Biedl syndrome 22
MONDO:0015009 hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to lymphatic malformation 7
MONDO:0015318 Pierre Robin syndrome associated with collagen disease obsolete Pierre Robin syndrome associated with collagen disease
MONDO:0015320 Pierre Robin syndrome associated with a chromosomal anomaly obsolete Pierre Robin syndrome associated with a chromosomal anomaly
MONDO:0015321 Pierre Robin syndrome associated with branchial archs anomalies obsolete Pierre Robin syndrome associated with branchial archs anomalies
MONDO:0015322 Pierre Robin syndrome associated with bone disease obsolete Pierre Robin syndrome associated with bone disease
MONDO:0015543 hemophagocytic syndrome associated with an infection obsolete hemophagocytic syndrome associated with an infection
MONDO:0015633 Bazex syndrome obsolete Bazex syndrome
MONDO:0015750 amelogenesis imperfecta-gingival hyperplasia syndrome obsolete amelogenesis imperfecta-gingival hyperplasia syndrome
MONDO:0015938 systemic disease obsolete systemic disease
MONDO:0016148 qualitative or quantitative defects of collagen 6 obsolete qualitative or quantitative defects of collagen 6
MONDO:0016329 familial syndrome associated with hypertrophic cardiomyopathy obsolete familial syndrome associated with hypertrophic cardiomyopathy
MONDO:0017133 genetic systemic or rheumatologic disease obsolete genetic systemic or rheumatologic disease
MONDO:0017274 autosomal ichthyosis syndrome with other associated signs obsolete autosomal ichthyosis syndrome with other associated signs
MONDO:0019687 type 11 collagen-related bone disorder obsolete type 11 collagen-related bone disorder
MONDO:0020012 systemic or rheumatic disease obsolete systemic or rheumatic disease
MONDO:0020272 connective tissue disease with eye involvement obsolete connective tissue disease with eye involvement
MONDO:0020277 ectodermal malformation syndrome associated with ocular features obsolete ectodermal malformation syndrome associated with ocular features
MONDO:0020764 carcinoma, Brown-Pearce Brown-Pearce carcinoma
MONDO:0035354 IgG4-related systemic disease obsolete IgG4-related systemic disease
MONDO:0035363 IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome obsolete IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome
MONDO:0035369 MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome obsolete MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome
MONDO:0054844 pontocerebellar hypoplasia, type 1d pontocerebellar hypoplasia, type 1D
MONDO:0100027 febrile seizures plus, genetic epilepsy with febrile seizures plus obsolete febrile seizures plus, genetic epilepsy with febrile seizures plus

Changed definition

Mondo ID Previous release New release
MONDO:0005550 A disorder resulting from the presence and activity of a microbial, viral, or parasitic agent. It can be transmitted by direct or indirect contact. A disorder directly resulting from the presence and activity of a microbial, viral, or parasitic agent. It can be transmitted by direct or indirect contact.
MONDO:0005990 An inflammatory process affecting the wall of the trachea. A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions.
MONDO:0017279 Young-onset Parkinson disease (YOPD) is a form of Parkinson disease (PD), characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms. A form of Parkinson disease (PD) characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms.
MONDO:0019724 Secondary glomerular diseases are conditions with glomerular pathology in which an underlying cause can be established Secondary glomerular diseases are conditions with glomerular pathology in which an underlying cause can be established.
MONDO:0009410 Addison disease (AD) is a chronic and rare endocrine disorder due to autoimmune destruction of the adrenal cortex and resulting in a glucocorticoid and mineralocorticoid deficiency. Properly speaking AD designates autoimmune adrenalitis, but it is a term commonly used to describe any form of chronic primary adrenal insufficiency (CPAI). A chronic and rare endocrine disorder due to autoimmune destruction of the adrenal cortex and resulting in a glucocorticoid and mineralocorticoid deficiency. Properly speaking AD designates autoimmune adrenalitis, but it is a term commonly used to describe any form of chronic primary adrenal insufficiency (CPAI).
MONDO:0007489 Dysplasia epiphysealis hemimelica (DEH), or Trevor's disease, is a rarecondition that most commonly affects the epiphysis (the end) of long bones in children.Early diagnosis and treatment are necessary to prevent jointdysfunction and deformity and may be surgical or non-surgical depending on the location and the symptoms. Due to the progressive nature of this disorder and the chance of worsening deformity, patients should be followed until skeletal maturity.Thecause ofdysplasia epiphysealis hemimelica is not known. Dysplasia epiphysealis hemimelica (DEH), or Trevor's disease, is a rare condition that most commonly affects the epiphysis (the end) of long bones in children. Early diagnosis and treatment are necessary to prevent joint dysfunction and deformity and may be surgical or non-surgical depending on the location and the symptoms. Due to the progressive nature of this disorder and the chance of worsening deformity, patients should be followed until skeletal maturity. The cause of dysplasia epiphysealis hemimelica is not known.
MONDO:0019313 Milroy disease is a frequent form of primary lymphedema characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period. Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts and lymphatic-system malformation.
MONDO:0007920 Meige disease is a frequent form of late-onset, primary lymphedema characterized by lower limb lymphedema typically developing during puberty. A frequent form of late-onset, primary lymphedema characterized by lower limb lymphedema typically developing during puberty.
MONDO:0008145 Enchondromatosis is a rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones. A rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones.
MONDO:0008156 Albers-Schoenberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates). A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).
MONDO:0008199 A Parkinson disease that begins after around the age of 50.
MONDO:0018466 Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID). A form of Parkinson disease (PD) characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID).
MONDO:0008771 Amelogenesis imperfecta-nephrocalcinosis, also called enamel-renal syndrome, is an extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure. An extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure.
MONDO:0009303 Goodpasture syndrome is an autoimmune disease that affects the lungs and kidneys and is characterized by pulmonary alveolar hemorrhage (bleeding in the lungs) and a kidney disease known as glomerulonephritis. Some use the term 'Goodpasture syndrome' for the findings of glomerulonephritis and pulmonary hemorrhage and the term 'Goodpasture disease' for those patients with glomerulonephritis, pulmonary hemorrhage, and anti-GBM antibodies. Currently, the preferred term for both conditions is “ anti-GBM antibody disease ”. Circulating antibodies are directed against the collagen of the part of the kidney known as the glomerular basement membrane (GBM), resulting in acute or rapidly progressive glomerulonephritis. Antibodies also attack the collagen of the air sacs of the lung (alveoli) resulting in bleeding of the lung (pulmonary hemorrhage). Symptoms may include general body discomfort or pain, bleeding from the nose and/or blood in the urine, respiratory problems, anemia, chest pain, and kidney failure. Anti-GBM disease is thought to result from an environmental insult (smoking, infections, exposure to certain drugs) in a person with genetic susceptibility, such as a specific human leukocyte antigen (HLA) type. Diagnosis is confirmed with the presence of anti-GBM antibody in the blood or in the kidney. The treatment of choice is plasmapheresis in conjunction with prednisone and cyclophosphamide. An autoimmune disease that affects the lungs and kidneys and is characterized by pulmonary alveolar hemorrhage (bleeding in the lungs) and a kidney disease known as glomerulonephritis. Some use the term 'Goodpasture syndrome' for the findings of glomerulonephritis and pulmonary hemorrhage and the term 'Goodpasture disease' for those patients with glomerulonephritis, pulmonary hemorrhage, and anti-GBM antibodies. Currently, the preferred term for both conditions is “ anti-GBM antibody disease ”. Circulating antibodies are directed against the collagen of the part of the kidney known as the glomerular basement membrane (GBM), resulting in acute or rapidly progressive glomerulonephritis. Antibodies also attack the collagen of the air sacs of the lung (alveoli) resulting in bleeding of the lung (pulmonary hemorrhage). Symptoms may include general body discomfort or pain, bleeding from the nose and/or blood in the urine, respiratory problems, anemia, chest pain, and kidney failure. Anti-GBM disease is thought to result from an environmental insult (smoking, infections, exposure to certain drugs) in a person with genetic susceptibility, such as a specific human leukocyte antigen (HLA) type. Diagnosis is confirmed with the presence of anti-GBM antibody in the blood or in the kidney. The treatment of choice is plasmapheresis in conjunction with prednisone and cyclophosphamide.
MONDO:0009774 Cloacal exstrophy (EC) is a major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations. A major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations.
MONDO:0017919 Exstrophy-Epispadias Complex (EEC) represents a spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form. Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus. A spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form. Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus.
MONDO:0010079 Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay. A neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay.
MONDO:0010080 Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. The familial form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.
MONDO:0015518 Infantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic. Several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic.
MONDO:0010132 Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis. A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis.
MONDO:0010371 Aland Island Eye Disease (AIED) is an X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia. An X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia.
MONDO:0011173 Any essential thrombocythemia in which the cause of the disease is a mutation in the MPL gene. Familial thrombocytosis in which the cause of the disease is a mutation in the MPL gene.
MONDO:0011669 Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. A rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.
MONDO:0015999 Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter). A form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter).
MONDO:0012608 Autosomal recessive lower motor neuron disease with childhood onset is a rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported. A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported.
MONDO:0012892 Connective tissue disorder due to lysyl hydroxylase-3 deficiency is a rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features. A rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features.
MONDO:0013060 Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline. A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.
MONDO:0016536 Autosomal recessive lymphoproliferative disease is a rare combined T and B cell immunodeficiency with a predisposition to lymphoproliferative syndrome. It is characterized by persistent symptomatic EBV-viremia and hypogammaglobulinemia variably presenting with fever, lymphadenopathy and systemic inflammatory conditions including hepatitis, pneumonia and sepsis. It may be associated with lymphoma, hemophagocytic lymphohistiocytosis, and aplastic anemia. A rare combined T and B cell immunodeficiency with a predisposition to lymphoproliferative syndrome. It is characterized by persistent symptomatic EBV-viremia and hypogammaglobulinemia variably presenting with fever, lymphadenopathy and systemic inflammatory conditions including hepatitis, pneumonia and sepsis. It may be associated with lymphoma, hemophagocytic lymphohistiocytosis, and aplastic anemia.
MONDO:0013172 Polymicrogyria with optic nerve hypoplasia is a rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction. A rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction.
MONDO:0013759 MITF-related melanoma and renal cell carcinoma predisposition syndrome is an inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer. An inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer.
MONDO:0013794 Any essential thrombocythemia in which the cause of the disease is a mutation in the JAK2 gene. Familial thrombocytosis in which the cause of the disease is a mutation in the JAK2 gene.
MONDO:0014061 A rare genetic bone disease characterized by short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus, and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism, and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described.
MONDO:0014500 Atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted Atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted.
MONDO:0014629 A respiratory disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease.
MONDO:0015583 The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia. The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia.
MONDO:0015633 Bazex syndrome is a rare paraneoplastic syndrome characterized by acral psoriasiform lesions.
MONDO:0015750 This syndrome associates gingival fibromatosis with dental abnormalities including generalized thin hypoplastic amelogenesis imperfecta, intrapulpal calcifications, and delay of tooth eruption.
MONDO:0015938 A systemic disease is one that affects a number of organs and tissues, or affects the body as a whole.
MONDO:0016822 Myalgia-eosinophilia syndrome associated with tryptophan is a rare systemic disease characterized by severe myalgia and peripheral eosinophilia associated with tryptophan dietary supplementation. The symptoms do not subside after tryptophan discontinuation. Clinical presentation includes muscle tenderness and cramps, fatigue, weakness, paresthesia, peripheral edema, arthralgia, dyspnea, skin rash, dry mouth, and development of scleroderma-like skin abnormalities. A rare systemic disease characterized by severe myalgia and peripheral eosinophilia associated with tryptophan dietary supplementation. The symptoms do not subside after tryptophan discontinuation. Clinical presentation includes muscle tenderness and cramps, fatigue, weakness, paresthesia, peripheral edema, arthralgia, dyspnea, skin rash, dry mouth, and development of scleroderma-like skin abnormalities.
MONDO:0017133 An instance of systemic or rheumatic disease that is caused by a modification of the individual's genome.
MONDO:0017213 Postorgasmic illness syndrome (POIS) is a rare condition in which a man develops flu-like symptoms after ejaculation (when semen is released from the penis). Specific symptoms can include extreme fatigue, weakness, feverishness or sweating, mood changes or irritability, memory or concentration problems, and/or a stuffy nose or itching eyes. Symptoms may occur within seconds, minutes, or a few hours after ejaculation. Most symptoms last for 2 to 7 days and go away on their own. The underlying cause of POIS is poorly understood. Some scientists believe it may be due to a semen allergy that causes an immediate hypersensitivity reaction. There is no standard treatment for POIS, but some men have been treated with SSRIs, antihistamines, and/or benzodiazepines. Hyposensitization therapy (decreasing the immune response by exposure to semen) reportedly improved symptoms in two men with POIS. A rare condition in which a man develops flu-like symptoms after ejaculation (when semen is released from the penis). Specific symptoms can include extreme fatigue, weakness, feverishness or sweating, mood changes or irritability, memory or concentration problems, and/or a stuffy nose or itching eyes. Symptoms may occur within seconds, minutes, or a few hours after ejaculation. Most symptoms last for 2 to 7 days and go away on their own. The underlying cause of POIS is poorly understood. Some scientists believe it may be due to a semen allergy that causes an immediate hypersensitivity reaction. There is no standard treatment for POIS, but some men have been treated with SSRIs, antihistamines, and/or benzodiazepines. Hyposensitization therapy (decreasing the immune response by exposure to semen) reportedly improved symptoms in two men with POIS.
MONDO:0019355 Adult-onset Still disease (AOSD) is a rare inflammatory multisystem disorder characterized clinically by fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash. A rare inflammatory multisystem disorder characterized clinically by fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash.
MONDO:0020437 Atrioventricular septal defect with communication at the atrial level only.
MONDO:0100027 These epilepsy syndromes are characterized by the presence of febrile seizures in an individual that may continue past the usual age where these are expected to resolve and/or be accompanied by afebrile seizures that may be generalized seizures (tonic-clonic, atonic, myoclonic, myoclonic-atonic or absence) or focal seizures. Febrile seizures plus and genetic epilepsy with febrile seizures plus are distinguished on the basis of family history. A number of dominantly inherited genes have been linked to these syndromes, with implications for specific genetic counseling, due to the variable severity of the resulting epilepsy in different family members.
MONDO:0100318 A related disease caused by infection with severe acute respiratory syndrome coronavirus 2 or the associated aftereffects of the disease. A viral disease or post-viral disorder caused by infection with severe acute respiratory syndrome coronavirus 2 or the associated aftereffects of the disease.

Obsoletion candidates

New obsoletion candidates:

Mondo ID Previous release New release
MONDO:0019708 True
MONDO:0000881 True
MONDO:0000882 True
MONDO:0000883 True
MONDO:0006475 True
MONDO:0006728 True
MONDO:0018232 True
MONDO:0019700 True
MONDO:0017957 True
MONDO:0019703 True
MONDO:0019704 True
MONDO:0017608 True
MONDO:0019299 True
MONDO:0007600 True
MONDO:0018231 True
MONDO:0020244 True
MONDO:0007684 True
MONDO:0007749 True
MONDO:0016896 True
MONDO:0007815 True
MONDO:0016891 True
MONDO:0016895 True
MONDO:0008091 True
MONDO:0008122 True
MONDO:0009799 True
MONDO:0018466 True
MONDO:0016886 True
MONDO:0008956 True
MONDO:0009004 True
MONDO:0019705 True
MONDO:0009494 True
MONDO:0009535 True
MONDO:0009654 True
MONDO:0020241 True
MONDO:0010527 True
MONDO:0019302 True
MONDO:0016916 True
MONDO:0011329 True
MONDO:0016920 True
MONDO:0016538 True
MONDO:0016900 True
MONDO:0015192 True
MONDO:0016665 True
MONDO:0017848 True
MONDO:0018139 True
MONDO:0018348 True
MONDO:0020313 True
MONDO:0020315 True
MONDO:0035398 True

Number of terms who were previously candidate for obsoletion and are now not anymore:

Obsoletions

Mondo ID Previous release New release
MONDO:0010301 True
MONDO:0011293 True
MONDO:0015318 True
MONDO:0015320 True
MONDO:0015321 True
MONDO:0015322 True
MONDO:0015543 True
MONDO:0015633 True
MONDO:0015750 True
MONDO:0015938 True
MONDO:0016148 True
MONDO:0016329 True
MONDO:0017133 True
MONDO:0017274 True
MONDO:0019687 True
MONDO:0020012 True
MONDO:0020272 True
MONDO:0020277 True
MONDO:0035354 True
MONDO:0035363 True
MONDO:0035369 True
MONDO:0100027 True