Releases · monarch-initiative/mondo

03 Oct 17:31

nicolevasilevsky

v2022-10-03

62c478c

v2022-10-03

Overview:

Number of new terms: 34
Number of changed labels: 47
Number of changed definitions: 7
Number obsoleted terms: 10
Number of new obsoletion candidates: 4
Number of terms who were previously candidate for obsoletion and are now not anymore: 1

New terms

Mondo ID	Label	Definition
MONDO:0100478	brain malformations with or without urinary tract defects	A brain disorder caused by pathogenic variants in NFIA that is characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.
MONDO:0100500	Mendelian neurodevelopmental disorder	A neurodevelopmental disorder that is caused by genetic modifications where those modifications are inherited from a parent's genome.
MONDO:0700096	human disease or disorder
MONDO:0700098	neoplasm, non-human animal
MONDO:0700099	adenocarcinoma, non-human animal
MONDO:0700100	leukemia, non-human animal
MONDO:0700101	carcinoma, non-human animal
MONDO:0700102	lymphoma, non-human animal
MONDO:0700103	nutritional deficiency disease, non-human animal
MONDO:0700104	respiratory system disorder, non-human animal
MONDO:0700105	difference of sexual differentiation, non-human animal
MONDO:0700106	immune system disorder, non-human animal
MONDO:0700108	prion disease, non-human animal
MONDO:0700109	skin disease caused by bacterial infection, non-human animal
MONDO:0700110	pneumonia, non-human animal
MONDO:0700111	bacterial pneumonia, non-human animal
MONDO:0800103	COACH syndrome 1	Any COACH syndrome in which the cause of the disease is a variation in the TMEM67 gene.
MONDO:0800134	primary immunodeficiency due to calcium channel deficiency	An immunodeficiency disease caused by a variation in the CRACR2A gene.
MONDO:0800135	congenital emphysematous lung disease due to Filamin A loss-of-function variant	Any interstitial lung disease specific to childhood caused by a loss-of-function variation in the FLNA gene. Female children are reported more often. Rare male patients with loss-of-function FLNA mutation-associated lung disease with residual protein function can survive into infancy with a severe form of the phenotype.
MONDO:0800136	non-severe combined immunodeficiency due to COPG1 deficiency	Any non-severe combined immunodeficiency caused by a deficiency in the COPG1 gene.
MONDO:0800137	early-onset pulmonary and cutaneous vasculitis	A monogenic autoinflammatory disorder caused by a de novo activating mutation, p.Tyr515∗, in hematopoietic cell kinase (HCK). The disease is characterized by cutaneous vasculitis and chronic pulmonary inflammation that progresses to fibrosis.
MONDO:0800138	multisystem autoimmune disease due to IKAROS gain of function	An autoimmune disease caused by a loss-of-function variation in the IKZF1/IKAROSgene. Leukocytes of patients exhibited specific defects including impaired IL-2 production by T cells, T helper (TH) skewing toward TH2, low numbers of regulatory T cells (Treg), eosinophilia, and abnormal PC proliferation.
MONDO:0800139	HELIOS deficiency	A non-severe combined immunodeficiency caused by a loss-of-function variation in the IKZF2 gene that is characterized by recurrent upper respiratory infections, thrush and mucosal ulcers, and chronic lymphadenopathy.
MONDO:0800140	ITPKB deficiency	Any non-severe combined immunodeficiency in which the cause of the disease is variation in the ITPKB gene.
MONDO:0800141	MAN2B2 deficiency	Any non-severe combined immunodeficiency in which the cause of the disease is variation in the MAN2B2 gene.
MONDO:0800142	chronic mucocutaneous candidiasis and connective tissue disease due to JNK1 haploinsufficiency	An immunodeficiency disease caused by a variation in MAPK8, the gene encoding c-Jun N-terminal kinase 1 (JNK1), that is characterized by chronic mucocutaneous candidiasis and a connective tissue disorder that clinically overlaps with Ehlers-Danlos syndrome (EDS).
MONDO:0800143	cytomegalovirus pneumonia due to NOS2 deficiency	Cytomegalovirus pneumonia due to variant in the NOS2 gene.
MONDO:0800144	autoimmune pulmonary disease due to PD-1 deficiency	An autoimmune disease that is characterized by a lack of PD-1 on patient peripheral blood mononuclear cells (PBMCs) and reduced IFN production in response to mycobacterial stimuli.
MONDO:0800145	non-severe combined immunodeficiency due to polymerase delta deficiency	Any non-severe combined immunodeficiency in which the cause of the disease is variation in the POLD1/POLD2 gene.
MONDO:0800146	agammaglobulinemia, autosomal recessive, due to BOB1 deficiency	Any agammaglobulinemia in which the cause of the disease is autosomal recessive deficiency in the BOB1 gene.
MONDO:0800147	hemophagocytic lymphohistiocytosis due to RhoG deficiency	Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is an autosomal recessive variation in the RHOG gene.
MONDO:0800148	autoinflammatory syndrome due to TBK1 deficiency	Any autoinflammatory syndrome in which the cause of the disease is an autosomal recessive variation in the TBK1 gene.
MONDO:0800149	immunodeficiency, common variable, due to APRIL deficiency	Any commonn variable immunodeficiency in which the cause of the disease is an autosomal recessive variation in the TNFS13 gene.
MONDO:0810000	choroidal neovascularization	An eye disorder described by the growth of new blood vessels that originate from the choroid through a break in the Bruch membrane into the sub–retinal pigment epithelium (sub-RPE) or subretinal space. Choroidal neovascularization (CNV) is a major cause of visual loss.

Changed terms

Changed labels

Assets 21

06 Sep 22:31

nicolevasilevsky

v2022-09-06

94fd4bb

v2022-09-06

Overview:

Number of new terms: 19
Number of changed labels: 15
Number of changed definitions: 70
Number obsoleted terms: 42
Number of new obsoletion candidates: 5
Number of terms who were previously candidate for obsoletion and are now not anymore: 43

New terms

Mondo ID	Label	Definition
MONDO:0100434	chronic mountain sickness	A pathological condition resulting from chronic exposure to hypoxia at high altitude. The syndrome is characterized by an excessive number of red blood cells associated with a high blood hemoglobin concentration ([Hb]), hypoxemia, and, in some cases, pulmonary hypertension. Clinical signs include headache, fatigue, sleep disturbances, dyspnea, digestive complaints, and high risk of thrombotic events.
MONDO:0100440	Asperger syndrome, susceptibility to	An inherited susceptibility or predisposition to developing Asperger sydrome.
MONDO:0100473	disorder of peptide and amine metabolism	An inherited metabolic disease that has its basis in the disruption of peptide and/or amine metabolic process.
MONDO:0100477	disorder of methylamine metabolism	An inherited metabolic disease that has its basis in the disruption of methylamine metabolic process.
MONDO:0100509	IFT140-related recessive ciliopathy	Any ciliopathy in which the cause of the disease is biallelic variants in the IFT140 gene.
MONDO:0100510	spondyloepimetaphyseal dysplasia	An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column, epiphysis, and metaphysis.
MONDO:0100514	familial ovarian carcinoma	Ovarian carcinoma that has developed in relatives of patients that have a history of ovarian carcinoma.
MONDO:0100515	mirror movements 1 and/or agenesis of the corpus callosum	A familial congenital mirror movement disorder where individuals with heterozygous variants in DCC have congenital mirror movements and/or agenesis of the corpus callosum (not with or without- some individuals do not demonstrate mirror movements and only have corpus callosum defects, even within the same family).
MONDO:0100516	complex neurodevelopmental disorder with motor features	A complex neurodevelopmental disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy). Additionally, the disorder features at least one phenotype associated with motor function, including but not limited to spasticity, hypo- or hypertonia, dyskinesia, choreo-athetosis, or ataxia.
MONDO:0800107	anterior deviation infundibular septum
MONDO:0800108	cleft leaflet of tricuspid valve
MONDO:0800152	disorder of galactose and fructose metabolism	An inherited disorder of carbohydrate metabolism that is has its basis in the disruption of galactose and/or fructose metabolic process.
MONDO:0800153	urea cycle disorder or inherited hyperammonemia	A disorder of amino acid metabolism that has its basis in the disruption of the urea cycle and/or there is an inherited increased concentration of ammonia in the blood.
MONDO:0800154	inborn disorder of the metabolism of sulfur-containing amino acids and hydrogen sulfide	A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of sulfur-containing amino acids and/or hydrogen sulfide.
MONDO:0800155	inborn disorder of glycine and serine metabolism	A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of glycine and/or serine.
MONDO:0800156	inborn disorder of ornithine, proline and hydroxyproline metabolism	A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of ornithine, proline and/or hydroxyproline.
MONDO:0800157	inborn disorder of lysine, hydroxylysine, and tryptophan metabolism	A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of lysine, hydroxylysine, and/or tryptophan.
MONDO:0800158	inborn disorder of glutamate/glutamine and aspartate/asparagine metabolism	A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of glutamate/glutamine and aspartate/asparagine.
MONDO:0800159	disorder of polyamine metabolism	An inherited metabolic disease that has its basis in the disruption of the polyamine metabolic process.

Changed terms

Changed labels

Changed definitions

Mondo ID	Label	Previous release	New release
MONDO:0000155	triglyceride storage disease	An acquired metabolic disease that is has its basis in the disruption of sequestering of triglyceride.	An inherited metabolic disease that is has its basis in the disruption of sequestering of triglyceride.
MONDO:0019226	glucose transport disorder	An acquired metabolic disease that is has its basis in the disruption of glucose transport.	An inherited metabolic disease that is has its basis in the disruption of glucose transport.
MONDO:0000273	Kunjin virus infectous disease		A West Nile encephalitis that results in infection located in brain, has material basis in Kunjin virus, a subtype of West Nile Virus, which is transmitted by Culex annulirostris mosquito bite. The infection has symptom fever, has symptom rigor, has symptom headache, has symptom confusion, and has symptom lethargy.
MONDO:0000351	disorder of methionine catabolism	An acquired metabolic disease that is has its basis in the disruption of methionine catabolic process.	An inherited metabolic disease that is has its basis in the disruption of methionine catabolic process.
MONDO:0019222	inborn disorder of methionine cycle and sulfur amino acid metabolism	An acquired metabolic disease that is has its basis in the disruption of sulfur amino acid metabolic process.	An inherited metabolic disease that is has its basis in the disruption of sulfur amino acid metabolic process.
MONDO:0037938	inborn disorder of aspartate family metabolism	An acquired metabolic disease that is has its basis in the disruption of aspartate family amino acid metabolic process.	An inherited metabolic disease that is has its basis in the disruption of aspartate family amino acid metabolic process.
MONDO:0000421	inborn serine deficiency	An acquired metabolic disease that is has its basis in the disruption of L-serine biosynthetic process.	An inherited metabolic disease that is has its basis in the disruption of L-serine biosynthetic process.
MONDO:0019239	inborn disorder of serine family metabolism	An acquired metabolic disease that is has its basis in the disruption of serine family amino acid metabolic process.	An inherited metabolic disease that is has its basis in the disruption of serine family amino acid metabolic process.
MONDO:0005528	inborn vitamin metabolic disorder	An acquired metaboli...

Assets 21

01 Aug 17:58

sabrinatoro

v2022-08-01

cc03760

v2022-08-01

Overview:

Number of new terms: 19
Number of changed labels: 6
Number of changed definitions: 35
Number obsoleted terms: 34
Number of new obsoletion candidates: 34
Number of terms who were previously candidate for obsoletion and are now not anymore: 1

New terms

Mondo ID	Label	Definition
MONDO:0030827	macrothrombocytopenia, isolated, 2, autosomal dominant
MONDO:0030839	thyroid hormone metabolism, abnormal, 2
MONDO:0031432	thyroid hormone metabolism, abnormal
MONDO:0031447	macrothrombocytopenia, isolated
MONDO:0100498	UROD-related inherited porphyria	Any inherited porphyria in which the cause of the disease is monoallelic or biallelic variants in the UROD gene.
MONDO:0100502	NTHL1-deficiency tumor predisposition syndrome	Biallelic constitutional/germline loss-of-function NTHL1 variants confer predisposition to tumor formation demonstrating ‘COSMIC Signature 30’ mutation profile. Tumors have been reported at multiple primary sites; in particular adenomatous polyposis of colon (~10-50 polyps), colorectal cancer, and breast cancer.
MONDO:0100503	DPH5-related diphthamide-deficiency syndrome	A neurodevelopmental disorder in which the cause of the disease is a mutation in the DPH5 gene, which is characterized by craniofacial dysmorphology, profound neurodevelopmental delay, multisystem abnormalities, and miscarriages.
MONDO:0100504	fungal infection of the toenail	A fungal infectious disease that involves the toenail.
MONDO:0100505	food dermatitis	Dermatitis caused by an allergic reaction to ingested food.
MONDO:0100506	Cockayne spectrum with or without cerebrooculofacioskeletal syndrome	An autosomal recessive, multisystem condition caused by pathogenic variants of the ERCC6 gene, encoding the DNA excision repair protein, ERCC-6. Cockayne spectrum with or without cerebrooculofacioskeletal syndrome is characterized by growth failure at birth, with little or no postnatal neurologic development in addition to congenital cataracts or other structural anomalies of the eye, early postnatal contractures of the spine (kyphosis, scoliosis) and joints, and death usually occurring by age five years. This term lumps Cockayne syndrome type 2/B (CSB), cerebrooculofacioskeletal syndrome 1 (COFS syndrome), and De Sanctis-Cacchione syndrome into a spectrum of disease.
MONDO:0700082	Robertsonian translocation Down syndrome	Chromosomal disorder in which (part or full) chromosome 21 is attached to another chromosome, resulting in the presence of a third copy of part of full chromosome 21 genetic material. A Robertsonian translocation is a structural chromosomal anomaly in which two acrocentric chromosomes break, resulting in the fusion of the nonhomologous chromosomes’ long arms to form a single, large chromosome.
MONDO:0700083	reciprocal translocation down syndrome	Chromosomal disorder in which (part or full) chromosome 21 has been exchange with another chromosome, resulting in the presence of a third copy of (part or full) chromosome 21 genetic material. A reciprocal translocation is a chromosome abnormality caused by exchange of parts between non-homologous chromosomes.
MONDO:0700093	balanced Robertsonian translocation Down syndrome	Robertsonian translocation Down syndrome in which translocation displacement of the end regions of chromosomes occured without loss of chromosomal material between the two nonhomologous chromosomes.
MONDO:0700094	unbalanced Robertsonian translocation Down syndrome	Robertsonian translocation Down syndrome in which translocation displacement of the end regions of chromosomes occured with loss of chromosomal material between the two nonhomologous chromosomes.
MONDO:0800046	thyroid hormone metabolism, abnormal 1	A rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported.
MONDO:0800047	macrothrombocytopenia, isolated, 1, autosomal dominant	Any autosomal dominant macrothrombocytopenia in which the cause of the disease is a mutation in the TUBB1 gene.
MONDO:0800104	immunodeficiency 105	Any immunodeficiency disease which the cause of the disease is a mutation in the PTPRC gene.
MONDO:0800105	catatonia	A psychiatric disorder featuring stupor, posturing, and echophenomena.
MONDO:0800106	disruptive behavior disorder	A mental disorder that includes conduct disorder (CD), oppositional defiant disorder (ODD), and attention Deficit Hyperactivity Disorder (ADHD). Features may include frequent aggression, deceitfulness, and defiance, and often persist through the lifespan.

Changed terms

Changed labels

Mondo ID	Label	Previous release	New release
MONDO:0007962	megalodactyly	Megalodactyly	megalodactyly
MONDO:0008075	schwannomatosis	neurofibromatosis type 3	schwannomatosis
MONDO:0010663	intellectual disability-hypotonic facies syndrome, X-linked, 1	X-linked intellectual disability-hypotonic face syndrome	intellectual disability-hypotonic facies syndrome, X-linked, 1
MONDO:0012163	immunodeficiency 104	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive	immunodeficiency 104
MONDO:0013784	neonatal-onset encephalopathy with rigidity and seizures	lethal neonatal spasticity-epileptic encephalopathy syndrome	neonatal-onset encephalopathy with rigidity and seizures
MONDO:0700130	partial segmental duplication	partial trisomy 21	partial segmental duplication

Changed definitions

Mondo ID	Label	Previous release	New release
MONDO:0004598	acute cor pulmonale	Acute form of cor pulmonale.	A form of acute right heart failure produced by a sudden increase in resistance to blood flow in the pulmonary circulation.
MONDO:0017666	diffuse palmoplantar keratoderma		Palmoplantar keratoderma that diffusely involves most of the palm and sole and is caused by a genetic abnormality.
MONDO:0007113	Angelman syndrome	Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features.	A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features.
MONDO:0007168	atelosteogenesis type III	Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.	A skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
MONDO:0016524	congenital vascular bone syndrome	An alteration in limb growth caused by congenital vascular malformations in childhood	An alteration in limb growth caused by congenital vascular malformations in childhood.
MONDO:0019270	erythrokeratoderma		An umbrella term for a group of rare genetic skin disorders characterized by well-demarcated plaques of reddened, dry and thickened skin. Typically, these lesions are distributed symmetrically on the body and tend to slowly expand and progress over time.
MONDO:0008608	Down syndrome	Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.	Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of the chromosome 21 genetic material and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.
MONDO:0008075	schwannomatosis	Neurofibromatosis (NF) type 3 (NF3), also known as schwannomatosis, is the least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium.	The least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium.
MONDO:0015104	porphyria cutanea tarda	Porphyria cutanea tarda (PCT) is the most common form of chronic hepatic porphyria. It is characterized by bullous photodermatitis.	The most common form of chronic hepatic porphyria. It is characterized by bullous photodermatitis.
MONDO:0008756	alopecia - intellectual disability syndrome	Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures,...

Assets 21

01 Jul 20:17

nicolevasilevsky

v2022-07-01

e8b9f65

v2022-07-01

Overview:

Number of new terms: 100
Number of changed labels: 17
Number of changed definitions: 55
Number obsoleted terms: 15
Number of new obsoletion candidates: 120
Number of terms who were previously candidate for obsoletion and are now not anymore: 1

New terms

Mondo ID	Label	Definition
MONDO:0024770	autoinflammatory syndrome, familial, X-linked, Behcet-like 2
MONDO:0024781	immunodeficiency 102
MONDO:0027652	5-fluorouracil toxicity
MONDO:0027653	abacavir toxicity
MONDO:0027655	allopurinol toxicity
MONDO:0027664	cisplatin toxicity
MONDO:0027666	codeine toxicity
MONDO:0027667	efavirenz toxicity
MONDO:0027668	flucloxacilline toxicity
MONDO:0027675	irinotecan toxicity
MONDO:0027677	isoniazid toxicity
MONDO:0027687	raltegravir toxicity
MONDO:0027696	voriconazole toxicity
MONDO:0030756	Stuve-Wiedemann syndrome 2
MONDO:0030770	congenital disorder of deglycosylation 2
MONDO:0030781	restrictive dermopathy 2
MONDO:0030881	developmental and epileptic encephalopathy 102
MONDO:0030886	holoprosencephaly 14
MONDO:0030887	cardiomyopathy, dilated, 2G
MONDO:0030890	pontocerebellar hypoplasia, IIA 17
MONDO:0030891	intellectual developmental disorder, autosomal dominant 66
MONDO:0031213	restrictive dermopathy
MONDO:0031257	high altitude pulmonary edema	A rare pulmonary condition characterized by non-cardiogenic pulmonary edema occurring in otherwise healthy individuals within days of an ascent above 2500-3000 m. Early symptoms include exertional dyspnea, non-productive cough, chest tightness, and reduced exercise performance, followed by dyspnea at rest and possibly orthopnea, as well as gurgling in the chest and pink frothy sputum in advanced cases. Clinical signs are cyanosis, tachypnea, tachycardia, crackles or wheezing, and elevated body temperature (generally not exceeding 38.5°C). Signs of concomitant high-altitude cerebral edema may also be observed. Chest x-rays typically show patchy opacities predominantly in the right middle lobe.
MONDO:0031280	Stuve-Wiedemann syndrome
MONDO:0031376	congenital disorder of deglycosylation
MONDO:0031384	autoinflammatory syndrome, familial, Behcet-like
MONDO:0033169	curariform drugs toxicity
MONDO:0033170	statin toxicity
MONDO:0033181	phenytoin or carbamazepine toxicity
MONDO:0033938	acute radiation syndrome
MONDO:0034989	intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine and postnatal growth restriction, global developmental delay, intellectual disability, and dysmorphic facial features (such as broad nasal root, anteverted nares, long philtrum, low-set and posteriorly rotated ears, and short neck). Additional reported manifestations are microcephaly, short stature, vertebral abnormalities, joint laxity, ocular, cardiac, and renal defects, and minor limb anomalies. Brain imaging may show hypoplastic corpus callosum, delayed myelination, and cerebral atrophy.
MONDO:0034991	intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome	A rare genetic disease characterized by the presence of multiple café-au-lait macules and elevated rates of sister chromatid exchange demonstrated on cytogenetic testing. Pre- and postnatal growth deficiency with short stature, microcephaly, mild developmental delay, cardiomyopathy, and symptomatic gastro-esophageal reflux have also been described, while malar rash is typically absent.
MONDO:0035337	Duane retraction syndrome with congenital deafness	A rare neurologic disease characterized by the presence of Duane retraction syndrome (i. e. a congenital cranial dysinnervation disorder with unilateral or bilateral limitation of abduction and/or adduction of the eye, as well as globe retraction and palpebral fissure narrowing on attempted adduction) in combination with congenital unilateral or bilateral hearing loss. The sidedness of hearing loss corresponds to the sidedness of the retraction syndrome.
MONDO:0035344	acute bilirubin encephalopathy	A rare neurologic disease characterized by lethargy, hypotonia, poor feeding, opisthotonus, and a typical high-pitched cry due to bilirubin accumulation in the globus pallidus, sub-thalamic nuclei, and other brain regions, resulting from severe neonatal unconjugated hyperbilirubinemia. Onset of symptoms is typically within the first three to five days of life. Additional features include fever, apnea, seizures, and coma. Especially respiratory failure or refractory seizures may lead to a fatal outcome.
MONDO:0035345	chronic bilirubin encephalopathy	A rare neurologic disease characterized by the chronic consequences of bilirubin toxicity in the globus pallidus, sub-thalamic nuclei, and other brain regions, after exposure to high levels of unconjugated bilirubin in the neonatal period. Symptoms begin after the acute phase of bilirubin encephalopathy in the first year of life, evolve slowly over several years, and include mild to severe extrapyramidal disturbances (especially dystonia and athetosis), auditory neuropathy spectrum disorder, and oculomotor and dental abnormalities.
MONDO:0035350	letrozole toxicity
MONDO:0035763	idiopathic non-lupus full-house nephropathy
MONDO:0035764	idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance
MONDO:0035777	parenteral nutrition-associated cholestasis	A rare hepatic disease characterized by intrahepatic cholestasis and deterioration of liver function in patients receiving parenteral nutrition for extended periods of time (signs may appear as early as within the first two weeks of initiation of parenteral nutrition). The condition commonly occurs in neonates and usually resolves with transition to enteral feeding, although severe cases may progress to liver fibrosis, cirrhosis, and portal hypertension.
MONDO:0035838	idiopathic multicentric Castleman disease
MONDO:0035875	ivermectin toxicity
MONDO:0035876	belinostat toxicity or dose selection
MONDO:0035930	neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency
MONDO:0035940	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)
MONDO:0035941	B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)
MONDO:0035942	B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)
MONDO:0035943	B-lymphoblastic leukemia/lymphoma with hyperdiploidy
MONDO:0035944	B-lymphoblastic leukemia/lymphoma with hypodiploidy
MONDO:0035945	B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)
MONDO:0036025	toxicity to dolutegravir
MONDO:0036042	KAT6B-related multiple congenital anomalies syndrome
MONDO:0036045	euthyroid dysprealbuminemic hyperthyroxinemia
MONDO:0036189	oculogastrointestinal-neurodevelopmental syndrome
MONDO:0036192	EN1-related dorsoventral syndrome
MONDO:0036193	parkinsonism with polyneuropathy
MONDO:0036212	spastic paraparesis-cataracts-speech delay syndrome
MONDO:0036217	lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation
MONDO:0036218	lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster
MONDO:0037149	HSD10 disease, atypical type
MONDO:0037398	pneumonia caused by pseudomonas aeruginosa infection	A rare pulmonary disease characterized by primary or nonbacteremic pneumonia most frequently arising in an intensive care setting, or bacteremic pneumonia, which is typically associated with neutropenia. Chronic lower respiratory tract infection with development of episodes of pneumonia is common in patients with cystic fibrosis. Acute infections are potentially life-threatening. Patients present with fever, chills, dyspnea, cyanosis, productive cough, as well as signs of severe systemic toxicity. Alveolar hemorrhage, necrosis, and, eventually, cavity formation, are commonly seen.
MONDO:0100464	acid sphingomyelinase deficiency	An autosomal recessive lysosomal disease caused by biallelic loss of function variants in the SMPD1 gene. Clinical symptoms in affected individuals occur along a continuum. At the severe end of the spectrum are individuals historically diagnosed with Niemann-Pick disease type A (the neurovisceral form), which is characterized by hepatosplenomegaly with rapid neurological deterioration leading to death in the first few years of life. At the milder end of the spectrum are individuals historically diagnosed with Niemann-Pick disease type B, a later-onset, chronic visceral form, characterized by progressive visceral organ symptoms including hepatosplenomegaly and pulmonary insufficiency, and survival into adulthood. In addition, some affected individuals present with an intermediate phenotype, Niemann-Pick disease type A/B.
MONDO:0100465	complex neurodevelopmental disorder with or without congenital anomalies	A complex neurodevelopmental disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy), in addition to one or more structural or functional anomaly(ies) that develops prenatally.
MONDO:0100492	Bonnevie-Ullrich syndrome	A genetic syndrome which occurs in females. It is caused by the inheritance of only one complete X chromosome (45, X). Clinical signs of the symmetrical form are identical to those of Turner syndrome and include bilateral webbin...

Assets 21

01 Jun 17:43

sabrinatoro

v2022-06-01

df68594

v2022-06-01

Overview:

Number of new terms: 29
Number of changed labels: 4
Number of changed definitions: 22
Number obsoleted terms: 16
Number of new obsoletion candidates: 19
Number of terms who were previously candidate for obsoletion and are now not anymore: 0

New terms

Mondo ID	Label	Definition
MONDO:0024771	myopathy, distal, 7, adult-onset, X-linked
MONDO:0024777	immunodeficiency 98 with autoinflammation, X-linked
MONDO:0030619	retinitis pigmentosa 92
MONDO:0030669	gastrointestinal defects and immunodeficiency syndrome 2
MONDO:0030729	Tessadori-van Haaften neurodevelopmental syndrome 1
MONDO:0030730	Tessadori-van Haaften neurodevelopmental syndrome 2
MONDO:0030746	epidermolysis bullosa, junctional 2A, intermediate
MONDO:0030747	epidermolysis bullosa, junctional 2B, severe
MONDO:0030748	epidermolysis bullosa, junctional 3A, intermediate
MONDO:0030749	epidermolysis bullosa, junctional 3B, severe
MONDO:0030750	epidermolysis bullosa, junctional 4, intermediate
MONDO:0030768	epidermolysis bullosa, junctional 5A, intermediate
MONDO:0030785	intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly
MONDO:0030787	spermatogenic failure 71
MONDO:0030797	retinitis pigmentosa 93
MONDO:0030798	immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
MONDO:0030800	cholestasis, progressive familial intrahepatic, 9
MONDO:0030809	spermatogenic failure 72
MONDO:0030810	cholestasis, progressive familial intrahepatic, 10
MONDO:0030813	immunodeficiency 101 (varicella zoster virus-specific)
MONDO:0030815	cholestasis, progressive familial intrahepatic, 11
MONDO:0030818	spermatogenic failure 73
MONDO:0030819	meckel syndrome 14
MONDO:0030822	renal hypodysplasia/aplasia 4
MONDO:0100460	tobacco addiction, susceptibility to	An inherited susceptibility or predisposition to developing nicotine dependence.
MONDO:0100463	methylmalonic aciduria and/or homocystinuria, cblD type	An autosomal recessive inborn disorder of cobalamin metabolism caused by biallelic variants in MMADHC. Depending on the type and location of variants in MMADHC, patients may present with methylmalonic aciduria, homocystinuria, or both. MMADHC has been reported to result in the cblD complementation group of cobalamin disorders.
MONDO:0700073	glutaric acidemia IIa	Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFA gene.
MONDO:0700074	glutaric acidemia IIb	Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFB gene.
MONDO:0700076	glutaric acidemia IIc	Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFDH gene.

Changed terms

Changed labels

Mondo ID	Label	Previous release	New release
MONDO:0007818	hyper-IgE recurrent infection syndrome 1	Hyper-IgE recurrent infection syndrome 1	hyper-IgE recurrent infection syndrome 1
MONDO:0008675	Freeman-Sheldon syndrome	freeman-Sheldon syndrome	Freeman-Sheldon syndrome
MONDO:0014977	autosomal recessive limb-girdle muscular dystrophy type 2R1	autosomal recessive limb-girdle muscular dystrophy type 2Z	autosomal recessive limb-girdle muscular dystrophy type 2R1
MONDO:0044640	Charcot-Marie-Tooth disease type 2T	charcot-marie-tooth disease type 2T	Charcot-Marie-Tooth disease type 2T

Changed definitions

Mondo ID	Label	Previous release	New release
MONDO:0000188	GLUT1 deficiency syndrome		An epileptic encephalopathy resulting from impaired glucose transport into the brain.
MONDO:0002279	iron metabolism disease	Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization. (From Mosby's Medical, Nursing, & Allied Health Dictionary, 4th ed)	Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization.
MONDO:0001793	excessive tearing	Diseases of the lacrimal apparatus.	Profuse lacrimation.
MONDO:0016085	Cole-Carpenter syndrome	Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).	An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).
MONDO:0007252	Gordon syndrome	Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.	An extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.
MONDO:0019162	pseudohypoaldosteronism type 2	Pseudohypoaldosteronism type 2 (PHA2) is a rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function.	A rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function.
MONDO:0007827	inclusion body myositis	Inclusion body myositis (IBM) is a slowly progressive degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness of specific muscles and distinctive histopathological features.	A slowly progressive degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness of specific muscles and distinctive histopathological features.
MONDO:0016797	multiple mitochondrial DNA deletion syndrome		A mitochondrial oxidative phosphorylation disorder in which mitochondrial DNA (mtDNA) level is lower than normal.
MONDO:0018975	neurofibromatosis type 1	Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.	A clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.
MONDO:0019027	otopalatodigital syndrome	Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome, characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders.	A form of frontootopalatodigital syndrome, characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders.
MONDO:0010704	otopalatodigital syndrome type 1	Otopalatodigital syndrome type 1 (OPD1) is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.	The mildest form of otopalatodigital syndrome spectrum disorder that is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.
MONDO:0019037	progressive supranuclear palsy	Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by...

Assets 21

02 May 18:11

nicolevasilevsky

v2022-05-02

f1c6be8

v2022-05-02

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 diffus...

Assets 21

04 Apr 18:21

sabrinatoro

v2022-04-04

14cbc59

v2022-04-04

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	obso...

Assets 21

02 Mar 20:11

nicolevasilevsky

v2022-03-01

24b8052

v2022-03-01

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

Assets 21

04 Feb 19:15

nicolevasilevsky

v2022-02-04

ea054e3

v2022-02-04

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	...

Assets 21

30 Dec 19:53

nicolevasilevsky

v2021-12-30

ca54f69

v2021-12-30

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

Assets 21

Mondo ID	Label	Previous release	New release
MONDO:0001571	gynecomastia disorder	gynecomastia	gynecomastia disorder
MONDO:0002145	disorder of sexual differentiation	difference of sexual differentiation	disorder of sexual differentiation
MONDO:0005272	myelodysplastic syndrome with single lineage dysplasia	refractory anemia	myelodysplastic syndrome with single lineage dysplasia
MONDO:0019453	myelodysplastic syndrome with multilineage dysplasia	refractory cytopenia with multilineage dysplasia	myelodysplastic syndrome with multilineage dysplasia
MONDO:0007925	myelodysplastic syndrome associated with isolated del(5q)	chromosome 5q deletion syndrome	myelodysplastic syndrome associated with isolated del(5q)
MONDO:0008907	PMM2-congenital disorder of glycosylation	PMM2-CDG	PMM2-congenital disorder of glycosylation
MONDO:0008908	MGAT2-congenital disorder of glycosylation	MGAT2-CDG	MGAT2-congenital disorder of glycosylation
MONDO:0012117	ALG9-congenital disorder of glycosylation	ALG9-CDG	ALG9-congenital disorder of glycosylation
MONDO:0010478	SLC35A2-congenital disorder of glycosylation	SLC35A2-CDG	SLC35A2-congenital disorder of glycosylation
MONDO:0010490	SSR4-congenital disorder of glycosylation	SSR4-CDG	SSR4-congenital disorder of glycosylation
MONDO:0010998	ALG3-congenital disorder of glycosylation	ALG3-CDG	ALG3-congenital disorder of glycosylation
MONDO:0011257	MPI-congenital disorder of glycosylation	MPI-CDG	MPI-congenital disorder of glycosylation
MONDO:0011291	ALG6-congenital disorder of glycosylation 1C	congenital disorder of glycosylation type 1C	ALG6-congenital disorder of glycosylation 1C
MONDO:0011342	SLC35A1-congenital disorder of glycosylation	SLC35A1-CDG	SLC35A1-congenital disorder of glycosylation
MONDO:0011629	MOGS-congenital disorder of glycosylation	MOGS-CDG	MOGS-congenital disorder of glycosylation
MONDO:0011772	B4GALT1-congenital disorder of glycosylation	B4GALT1-CDG	B4GALT1-congenital disorder of glycosylation
MONDO:0011783	ALG12-congenital disorder of glycosylation	ALG12-CDG	ALG12-congenital disorder of glycosylation
MONDO:0011933	ALG2-congenital disorder of glycosylation	ALG2-CDG	ALG2-congenital disorder of glycosylation
MONDO:0011964	DPAGT1-congenital disorder of glycosylation	DPAGT1-CDG	DPAGT1-congenital disorder of glycosylation
MONDO:0011969	ALG8-congenital disorder of glycosylation	ALG8-CDG	ALG8-congenital disorder of glycosylation
MONDO:0012041	familial adenomatous polyposis 2	MUTYH-related attenuated familial adenomatous polyposis	familial adenomatous polyposis 2
MONDO:0012052	ALG1-congenital disorder of glycosylation	ALG1-CDG	ALG1-congenital disorder of glycosylation
MONDO:0012118	COG7-congenital disorder of glycosylation	COG7-CDG	COG7-congenital disorder of glycosylation
MONDO:0012128	transposition of the great arteries, dextro-looped	dextro-looped transposition of the great arteries 1	transposition of the great arteries, dextro-looped
MONDO:0012211	MPDU1-congenital disorder of glycosylation	MPDU1-CDG	MPDU1-congenital disorder of glycosylation
MONDO:0012556	DK1-congenital disorder of glycosylation	DK1-CDG	DK1-congenital disorder of glycosylation
MONDO:0012635	COG8-congenital disorder of glycosylation	COG8-CDG	COG8-congenital disorder of glycosylation
MONDO:0012637	COG1-congenital disorder of glycosylation	COG1-CDG	COG1-congenital disorder of glycosylation
MONDO:0012783	RFT1-congenital disorder of glycosyla...

Mondo ID	Label	Previous release	New release
MONDO:0004736	inborn disorder of amino acid metabolism	inherited amino acid metabolic disorder	inborn disorder of amino acid metabolism
MONDO:0000688	inborn organic aciduria	inherited organic acidemia	inborn organic aciduria
MONDO:0002412	disorder of glycogen metabolism	glycogen storage disease	disorder of glycogen metabolism
MONDO:0019216	inborn disorder of amino acid transport	inborn disorder of amino acid absorption and transport	inborn disorder of amino acid transport
MONDO:0017706	disorder of carbohydrate transmembrane transport and absorption	disorder of carbohydrate absorption and transport	disorder of carbohydrate transmembrane transport and absorption
MONDO:0019225	disorder of gluconeogenesis	gluconeogenesis disorder	disorder of gluconeogenesis
MONDO:0010078	spondyloperipheral dysplasia	spondyloperipheral dysplasia-short ulna syndrome	spondyloperipheral dysplasia
MONDO:0010888	adenomyosis	endometriosis of uterus	adenomyosis
MONDO:0016200	qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -	qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
MONDO:0014502	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
MONDO:0016182	qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase	qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase	qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase
MONDO:0016454	Charcot-Marie-Tooth disease type 2B5	severe early-onset axonal neuropathy due to NEFL deficiency	Charcot-Marie-Tooth disease type 2B5
MONDO:0019235	inborn disorder of phenylalanine and tyrosine metabolism	inborn disorder of phenylalanin or tyrosine metabolism	inborn disorder of phenylalanine and tyrosine metabolism
MONDO:0019223	disorder of fatty acid and ketone body metabolism	inborn disorder of fatty acid oxidation and ketone body metabolism	disorder of fatty acid and ketone body metabolism
MONDO:0017900	autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency	autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency	autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency

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	...

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 hearin...

Releases: monarch-initiative/mondo

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