v2020-11-06
·
7473 commits
to master
since this release
New Classes
- MONDO:0026404 X inactivation, familial skewed, 1
- MONDO:0026426 X inactivation, familial skewed, 2
- MONDO:0026762 Wieacker-Wolff syndrome, female-restricted
- MONDO:0026763 holoprosencephaly 13, x-linked
- MONDO:0026765 congenital disorder of glycosylation, type IIr
- MONDO:0026767 immunodeficiency 74, covid19-related, x-linked
- MONDO:0026768 warfarin sensitivity, x-linked
- MONDO:0033532 Suleiman-El-Hattab syndrome
- MONDO:0033533 combined oxidative phosphorylation deficiency 45
- MONDO:0033534 combined oxidative phosphorylation deficiency 46
- MONDO:0033537 combined oxidative phosphorylation deficiency 47
- MONDO:0033541 immunodeficiency 69
- MONDO:0033542 immunodeficiency 70
- MONDO:0033543 cone-rod synaptic disorder syndrome, congenital nonprogressive
- MONDO:0033544 Tolchin-Le Caignec syndrome
- MONDO:0033545 mitochondrial DNA depletion syndrome 19
- MONDO:0033546 neurodegeneration, infantile-onset, biotin-responsive
- MONDO:0033547 Li-Ghorbani-Weisz-Hubshman syndrome
- MONDO:0033548 myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies
- MONDO:0033549 optic atrophy 12
- MONDO:0033550 obsolete high density lipoprotein cholesterol level quantitative trait locus 7
- MONDO:0033551 immunodeficiency 72 with autoinflammation
- MONDO:0033552 blood group, lewis system
- MONDO:0033554 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
- MONDO:0033555 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
- MONDO:0033556 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15
- MONDO:0033557 hemophagocytic lymphohistiocytosis, familial, 6
- MONDO:0033558 autoinflammation, immune dysregulation, and eosinophilia
- MONDO:0033559 intellectual developmental disorder with seizures and language delay
- MONDO:0033560 mitochondrial complex 1 deficiency, nuclear type 35
- MONDO:0033561 deeah syndrome
- MONDO:0033562 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia
- MONDO:0033563 retinitis pigmentosa 90
- MONDO:0033564 oocyte maturation defect 8
- MONDO:0033565 oocyte maturation defect 9
- MONDO:0033566 combined oxidative phosphorylation deficiency 48
- MONDO:0033569 combined oxidative phosphorylation deficiency 49
- MONDO:0033570 combined oxidative phosphorylation deficiency 50
- MONDO:0033571 skeletal muscle glycogen content and metabolism quantitative trait locus
- MONDO:0033572 intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies
- MONDO:0100172 intellectual disability, autosomal dominant
- MONDO:0100188 combined ApoA-I and ApoC-III deficiency
- MONDO:0100189 apolipoprotein A-I deficiency
- MONDO:0100203 parainfluenza virus type 1 infectious disease
- MONDO:0100204 parainfluenza virus type 2 infectious disease
- MONDO:0100205 parainfluenza virus type 4 infectious disease
- MONDO:0100209 X inactivation, familial skewed
- MONDO:0100210 growth hormone insensitivity syndrome with immune dysregulation
- MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- MONDO:0100212 IFAP syndrome
- MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome
- MONDO:0100214 Rajab interstitial lung disease with brain calcifications
- MONDO:0100215 Rajab interstitial lung disease with brain calcifications 1
- MONDO:0100218 arthrogryposis multiplex congenita 5
- MONDO:0100219 growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant
- MONDO:0100220 Rajab interstitial lung disease with brain calcifications 2
- MONDO:0100221 IFAP syndrome 2
Obsoletions
- MONDO:0007641 Futcher line --> obsolete Futcher line
- MONDO:0007678 glycoprotein, renal --> obsolete glycoprotein, renal
- MONDO:0009510 Laron syndrome with immunodeficiency --> obsolete Laron syndrome with immunodeficiency
- MONDO:0010624 IFAP/BRESHECK syndrome --> obsolete IFAP/BRESHECK syndrome
- MONDO:0013346 brain calcification, Rajab type --> obsolete brain calcification, Rajab type
- MONDO:0016021 early infantile epileptic encephalopathy --> obsolete early infantile epileptic encephalopathy
Renaming
- MONDO:0007641 Futcher line --> obsolete Futcher line
- MONDO:0007678 glycoprotein, renal --> obsolete glycoprotein, renal
- MONDO:0008823 neurogenic arthrogryposis multiplex congenita --> arthrogryposis multiplex congenita 2, neurogenic type
- MONDO:0009510 Laron syndrome with immunodeficiency --> obsolete Laron syndrome with immunodeficiency
- MONDO:0010246 early infantile epileptic encephalopathy 9 --> developmental and epileptic encephalopathy, 9
- MONDO:0010375 hyperekplexia-epilepsy syndrome --> developmental and epileptic encephalopathy, 8
- MONDO:0010396 epileptic encephalopathy, early infantile, 2 --> developmental and epileptic encephalopathy, 2
- MONDO:0010472 ALG13-CDG --> developmental and epileptic encephalopathy, 36
- MONDO:0010624 IFAP/BRESHECK syndrome --> obsolete IFAP/BRESHECK syndrome
- MONDO:0010632 epileptic encephalopathy, early infantile, 1 --> developmental and epileptic encephalopathy, 1
- MONDO:0011393 apolipoprotein A-I deficiency --> hypoalphalipoproteinemia, primary, 1
- MONDO:0012245 epileptic encephalopathy, early infantile, 3 --> developmental and epileptic encephalopathy, 3
- MONDO:0012812 epileptic encephalopathy, early infantile, 4 --> developmental and epileptic encephalopathy, 4
- MONDO:0013056 epileptic encephalopathy with global cerebral demyelination --> developmental and epileptic encephalopathy, 39
- MONDO:0013277 epileptic encephalopathy, early infantile, 5 --> developmental and epileptic encephalopathy, 5
- MONDO:0013346 brain calcification, Rajab type --> obsolete brain calcification, Rajab type
- MONDO:0013387 KCNQ2-related epileptic encephalopathy --> developmental and epileptic encephalopathy, 7
- MONDO:0013388 epileptic encephalopathy, early infantile, 11 --> developmental and epileptic encephalopathy, 11
- MONDO:0013389 epileptic encephalopathy, early infantile, 12 --> developmental and epileptic encephalopathy, 12
- MONDO:0013801 epileptic encephalopathy, early infantile, 13 --> developmental and epileptic encephalopathy, 13
- MONDO:0013989 epileptic encephalopathy, early infantile, 14 --> developmental and epileptic encephalopathy, 14
- MONDO:0014003 epileptic encephalopathy, early infantile, 15 --> developmental and epileptic encephalopathy, 15
- MONDO:0014133 epileptic encephalopathy, early infantile, 16 --> developmental and epileptic encephalopathy, 16
- MONDO:0014199 epileptic encephalopathy, early infantile, 17 --> developmental and epileptic encephalopathy, 17
- MONDO:0014201 early infantile epileptic encephalopathy without suppression burst --> developmental and epileptic encephalopathy, 18
- MONDO:0014328 epileptic encephalopathy, early infantile, 19 --> developmental and epileptic encephalopathy, 19
- MONDO:0014360 epileptic encephalopathy, early infantile, 21 --> developmental and epileptic encephalopathy, 21
- MONDO:0014371 early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome --> developmental and epileptic encephalopathy, 23
- MONDO:0014377 epileptic encephalopathy, early infantile, 24 --> developmental and epileptic encephalopathy, 24
- MONDO:0014392 epileptic encephalopathy, early infantile, 25 --> developmental and epileptic encephalopathy, 25
- MONDO:0014477 epileptic encephalopathy, early infantile, 26 --> developmental and epileptic encephalopathy, 26
- MONDO:0014505 epileptic encephalopathy, early infantile, 27 --> developmental and epileptic encephalopathy, 27
- MONDO:0014533 epileptic encephalopathy, early infantile, 28 --> developmental and epileptic encephalopathy, 28
- MONDO:0014593 epileptic encephalopathy, early infantile, 29 --> developmental and epileptic encephalopathy, 29
- MONDO:0014595 epileptic encephalopathy, early infantile, 30 --> developmental and epileptic encephalopathy, 30
- MONDO:0014598 epileptic encephalopathy, early infantile, 31 --> developmental and epileptic encephalopathy, 31
- MONDO:0014607 epileptic encephalopathy, early infantile, 32 --> developmental and epileptic encephalopathy, 32
- MONDO:0014625 epileptic encephalopathy, early infantile, 33 --> developmental and epileptic encephalopathy, 33
- MONDO:0014647 CAD-CDG --> developmental and epileptic encephalopathy, 50
- MONDO:0014718 epileptic encephalopathy, early infantile, 34 --> developmental and epileptic encephalopathy, 34
- MONDO:0014719 ITPA-related encephalopathy --> developmental and epileptic encephalopathy, 35
- MONDO:0014859 epileptic encephalopathy, early infantile, 37 --> developmental and epileptic encephalopathy, 37
- MONDO:0014868 epileptic encephalopathy, early infantile, 38 --> developmental and epileptic encephalopathy, 38
- MONDO:0014895 epileptic encephalopathy, early infantile, 40 --> developmental and epileptic encephalopathy, 40
- MONDO:0014916 epileptic encephalopathy, early infantile, 41 --> developmental and epileptic encephalopathy, 41
- MONDO:0014917 epileptic encephalopathy, early infantile, 42 --> developmental and epileptic encephalopathy, 42
- MONDO:0014921 epileptic encephalopathy, early infantile, 43 --> developmental and epileptic encephalopathy, 43
- MONDO:0014933 epileptic encephalopathy, early infantile, 44 --> developmental and epileptic encephalopathy, 44
- MONDO:0014942 epileptic encephalopathy, early infantile, 45 --> developmental and epileptic encephalopathy, 45
- MONDO:0014947 epileptic encephalopathy, early infantile, 46 --> developmental and epileptic encephalopathy, 46
- MONDO:0014949 epileptic encephalopathy, early infantile, 47 --> developmental and epileptic encephalopathy, 47
- MONDO:0015000 epileptic encephalopathy, early infantile, 48 --> developmental and epileptic encephalopathy, 48
- MONDO:0015002 epileptic encephalopathy, early infantile, 49 --> developmental and epileptic encephalopathy, 49
- MONDO:0015025 epileptic encephalopathy, early infantile, 51 --> developmental and epileptic encephalopathy, 51
- MONDO:0016021 early infantile epileptic encephalopathy --> obsolete early infantile epileptic encephalopathy
- MONDO:0020845 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 5 --> progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
- MONDO:0024528 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 --> progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
- MONDO:0029138 epileptic encephalopathy, early infantile, 67 --> developmental and epileptic encephalopathy, 67
- MONDO:0030054 epileptic encephalopathy, early infantile, 86 --> developmental and epileptic encephalopathy, 86
- MONDO:0030059 epileptic encephalopathy, early infantile, 87 --> developmental and epileptic encephalopathy, 87
- MONDO:0030072 epileptic encephalopathy, early infantile, 88 --> developmental and epileptic encephalopathy, 88
- MONDO:0032598 epileptic encephalopathy, early infantile, 68 --> developmental and epileptic encephalopathy, 68
- MONDO:0032657 epileptic encephalopathy, early infantile, 69 --> developmental and epileptic encephalopathy, 69
- MONDO:0032663 epileptic encephalopathy, early infantile, 70 --> developmental and epileptic encephalopathy, 70
- MONDO:0032678 epileptic encephalopathy, early infantile, 71 --> developmental and epileptic encephalopathy, 71
- MONDO:0032710 epileptic encephalopathy, early infantile, 72 --> developmental and epileptic encephalopathy, 72
- MONDO:0032725 epileptic encephalopathy, early infantile, 74 --> developmental and epileptic encephalopathy, 74
- MONDO:0032752 epileptic encephalopathy, early infantile, 75 --> developmental and epileptic encephalopathy, 75
- MONDO:0032768 epileptic encephalopathy, early infantile, 76 --> developmental and epileptic encephalopathy, 76
- MONDO:0032778 arthrogryposis multiplex congenita, myogenic type --> arthrogryposis multiplex congenita 3, myogenic type
- MONDO:0032799 mitochondrial dna depletion syndrome 16 (hepatic type) --> mitochondrial DNA depletion syndrome 16 (hepatic type)
- MONDO:0032808 epileptic encephalopathy, early infantile, 77 --> developmental and epileptic encephalopathy, 77
- MONDO:0032812 epileptic encephalopathy, early infantile, 78 --> developmental and epileptic encephalopathy, 78
- MONDO:0032813 epileptic encephalopathy, early infantile, 79 --> developmental and epileptic encephalopathy, 79
- MONDO:0032822 epileptic encephalopathy, early infantile, 80 --> developmental and epileptic encephalopathy, 80
- MONDO:0032858 epileptic encephalopathy, early infantile, 81 --> developmental and epileptic encephalopathy, 81
- MONDO:0032880 epileptic encephalopathy, early infantile, 82 --> developmental and epileptic encephalopathy, 82
- MONDO:0032895 epileptic encephalopathy, early infantile, 83 --> developmental and epileptic encephalopathy, 83
- MONDO:0032903 arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum --> arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum
- MONDO:0032918 epileptic encephalopathy, early infantile, 84 --> developmental and epileptic encephalopathy, 84
- MONDO:0032932 mitochondrial dna depletion syndrome 18 --> mitochondrial DNA depletion syndrome 18
- MONDO:0033361 epileptic encephalopathy, early infantile, 52 --> developmental and epileptic encephalopathy, 52
- MONDO:0033362 epileptic encephalopathy, early infantile, 53 --> developmental and epileptic encephalopathy, 53
- MONDO:0033363 epileptic encephalopathy, early infantile, 54 --> developmental and epileptic encephalopathy, 54
- MONDO:0033364 epileptic encephalopathy, early infantile, 55 --> developmental and epileptic encephalopathy, 55
- MONDO:0033365 epileptic encephalopathy, early infantile, 56 --> developmental and epileptic encephalopathy, 56
- MONDO:0033366 epileptic encephalopathy, early infantile, 57 --> developmental and epileptic encephalopathy, 57
- MONDO:0033367 epileptic encephalopathy, early infantile, 58 --> developmental and epileptic encephalopathy, 58
- MONDO:0033368 epileptic encephalopathy, early infantile, 59 --> developmental and epileptic encephalopathy, 59
- MONDO:0033369 epileptic encephalopathy, early infantile, 60 --> developmental and epileptic encephalopathy, 60
- MONDO:0033370 epileptic encephalopathy, early infantile, 61 --> developmental and epileptic encephalopathy, 61
- MONDO:0033371 epileptic encephalopathy, early infantile, 62 --> developmental and epileptic encephalopathy, 62
- MONDO:0033372 epileptic encephalopathy, early infantile, 63 --> developmental and epileptic encephalopathy, 63
- MONDO:0033373 epileptic encephalopathy, early infantile, 64 --> developmental and epileptic encephalopathy, 64
- MONDO:0033374 epileptic encephalopathy, early infantile, 65 --> developmental and epileptic encephalopathy, 65
- MONDO:0034106 RNF13-related severe early-onset epileptic encephalopathy --> developmental and epileptic encephalopathy, 73
- MONDO:0054845 epileptic encephalopathy, early infantile, 66 --> developmental and epileptic encephalopathy, 66
- MONDO:0060486 arthrogryposis multiplex congenita, neurogenic, with myelin defect --> arthrogryposis multiplex congenita 1, neurogenic, with myelin defect
- MONDO:0100079 epileptic encephalopathy, early infantile, 6 --> developmental and epileptic encephalopathy, 6