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@nicolevasilevsky nicolevasilevsky released this 30 Dec 19:53
· 3861 commits to master since this release
v2021-12-30
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Overview:

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

New terms

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

Changed terms

Changed labels

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

Changed definitions

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

Obsolete terms

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

New obsoletion candidates

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

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

Mondo ID Label
MONDO:0003127 embryoma
MONDO:0006251 inclusion body fibromatosis
MONDO:0006785 Henoch-Schoenlein purpura
MONDO:0009410 Addison disease
MONDO:0010674 mucopolysaccharidosis type 2
MONDO:0011140 benign familial neonatal-infantile seizures
MONDO:0013617 overgrowth-macrocephaly-facial dysmorphism syndrome
MONDO:0016050 thiamine-responsive encephalopathy
MONDO:0016754 vestibular schwannoma
MONDO:0018335 deep dermatophytosis
MONDO:0018750 class I glucose-6-phosphate dehydrogenase deficiency
MONDO:0021421 carcinoid tumors, intestina
Assets 21
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