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release_2022-02-04 #4426

Merged
merged 4 commits into from
Feb 4, 2022
Merged

release_2022-02-04 #4426

merged 4 commits into from
Feb 4, 2022

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nicolevasilevsky
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@matentzn
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matentzn commented Feb 4, 2022 •
edited by nicolevasilevsky
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Overview:

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

New terms

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

Changed terms

Changed labels

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

Changed definitions

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

Obsolete terms

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

New obsoletion candidates

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

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

Mondo ID Label
MONDO:0018271 peripheral primitive neuroectodermal tumor
MONDO:0004058 pancreatic cholera
MONDO:0007089 Alzheimer disease 2
MONDO:0010674 mucopolysaccharidosis type 2
MONDO:0035362 TRIM22-related inflammatory bowel disease

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matentzn approved these changes Feb 4, 2022
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All good. Problem fixed.

@nicolevasilevsky nicolevasilevsky merged commit ea054e3 into master Feb 4, 2022
@nicolevasilevsky nicolevasilevsky deleted the release_2022-02-04 branch February 4, 2022 19:14
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@matentzn matentzn matentzn approved these changes

@joeflack4 joeflack4 Awaiting requested review from joeflack4

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@nicolevasilevsky @matentzn