| DOID:0051055 |
46,XY gonadal dysgenesis with minifascicular neuropathy |
| DOID:0070623 |
B-lymphoblastic leukemia with MEF2D rearrangement |
| DOID:0070624 |
B-lymphoblastic leukemia with MYC rearrangement |
| DOID:0070625 |
B-lymphoblastic leukemia with NUTM1 rearrangement |
| DOID:0070626 |
B-lymphoblastic leukemia with PAX5alt |
| DOID:0070627 |
B-lymphoblastic leukemia with TCF3-HLF fusion |
| DOID:0070628 |
B-lymphoblastic leukemia with ZNF384 rearrangement |
| DOID:0051010 |
Bryant-Li-Bhoj neurodevelopmental syndrome |
| DOID:0051011 |
Bryant-Li-Bhoj neurodevelopmental syndrome 1 |
| DOID:0051012 |
Bryant-Li-Bhoj neurodevelopmental syndrome 2 |
| DOID:0061115 |
Carey-Fineman-Ziter syndrome 1 |
| DOID:0061116 |
Carey-Fineman-Ziter syndrome 2 |
| DOID:0061098 |
Carpenter syndrome 1 |
| DOID:0061099 |
Carpenter syndrome 2 |
| DOID:0051043 |
Charcot-Marie-Tooth disease axonal type 2JJ |
| DOID:0061027 |
Duane retraction syndrome 1 |
| DOID:0061028 |
Duane retraction syndrome 2 |
| DOID:0061029 |
Duane retraction syndrome 3 |
| DOID:0061117 |
Perrault syndrome 2 |
| DOID:0061073 |
Perrault syndrome 7 |
| DOID:0050457 |
Sertoli cell-only syndrome |
| DOID:0070629 |
acute myeloid leukemia with CBFA2T3-GLIS2 fusion |
| DOID:0070631 |
acute myeloid leukemia with FUS-ERG fusion |
| DOID:0070630 |
acute myeloid leukemia with KAT6A-CREBBP fusion |
| DOID:0070632 |
acute myeloid leukemia with MNX1-ETV6 fusion |
| DOID:0070633 |
acute myeloid leukemia with NPM1-MLF1 fusion |
| DOID:0051015 |
adult onset demyelinating leukodystrophy |
| DOID:0061006 |
advanced sleep phase syndrome 4 |
| DOID:2934 |
aleutian mink disease |
| DOID:0051014 |
atypical autosomal dominant adult-onset demyelinating leukodystrophy |
| DOID:0070615 |
autoinflammation, antibody deficiency, and immune dysregulation syndrome |
| DOID:0051000 |
autoinflammatory disease |
| DOID:0051042 |
autosomal dominant distal hereditary motor neuronopathy 15 |
| DOID:0061049 |
autosomal dominant intellectual developmental disorder type FRA12A |
| DOID:0061031 |
autosomal dominant intellectual developmental disorder 57 |
| DOID:0061032 |
autosomal dominant intellectual developmental disorder 58 |
| DOID:0061033 |
autosomal dominant intellectual developmental disorder 59 |
| DOID:0061050 |
autosomal dominant intellectual developmental disorder 60 with seizures |
| DOID:0061034 |
autosomal dominant intellectual developmental disorder 61 |
| DOID:0061035 |
autosomal dominant intellectual developmental disorder 62 |
| DOID:0061036 |
autosomal dominant intellectual developmental disorder 63 with macrocephaly |
| DOID:0061037 |
autosomal dominant intellectual developmental disorder 64 |
| DOID:0061038 |
autosomal dominant intellectual developmental disorder 65 |
| DOID:0061039 |
autosomal dominant intellectual developmental disorder 66 |
| DOID:0061040 |
autosomal dominant intellectual developmental disorder 67 |
| DOID:0061041 |
autosomal dominant intellectual developmental disorder 68 |
| DOID:0061042 |
autosomal dominant intellectual developmental disorder 69 |
| DOID:0061043 |
autosomal dominant intellectual developmental disorder 70 |
| DOID:0061044 |
autosomal dominant intellectual developmental disorder 71 with behavioral abnormalities |
| DOID:0061045 |
autosomal dominant intellectual developmental disorder 72 |
| DOID:0061046 |
autosomal dominant intellectual developmental disorder 73 |
| DOID:0061047 |
autosomal dominant intellectual developmental disorder 74 |
| DOID:0061048 |
autosomal dominant intellectual developmental disorder 75 |
| DOID:0060995 |
autosomal dominant isolated macrothrombocytopenia 2 |
| DOID:0070601 |
autosomal dominant nonsyndromic deafness 37 |
| DOID:0070602 |
autosomal dominant nonsyndromic deafness 80 |
| DOID:0070608 |
autosomal dominant nonsyndromic deafness 81 |
| DOID:0070603 |
autosomal dominant nonsyndromic deafness 82 |
| DOID:0070609 |
autosomal dominant nonsyndromic deafness 83 |
| DOID:0070604 |
autosomal dominant nonsyndromic deafness 84 |
| DOID:0070605 |
autosomal dominant nonsyndromic deafness 85 |
| DOID:0070610 |
autosomal dominant nonsyndromic deafness 86 |
| DOID:0070606 |
autosomal dominant nonsyndromic deafness 87 |
| DOID:0070611 |
autosomal dominant nonsyndromic deafness 88 |
| DOID:0070612 |
autosomal dominant nonsyndromic deafness 89 |
| DOID:0070607 |
autosomal dominant nonsyndromic deafness 90 |
| DOID:0061100 |
autosomal dominant primary microcephaly |
| DOID:0051037 |
autosomal dominant primary microcephaly 26 |
| DOID:0051038 |
autosomal dominant primary microcephaly 27 |
| DOID:0061104 |
autosomal dominant retinitis pigmentosa 96 |
| DOID:0061122 |
autosomal dominant tubulointerstitial kidney disease 1 |
| DOID:0061118 |
autosomal dominant tubulointerstitial kidney disease 2 |
| DOID:0061119 |
autosomal dominant tubulointerstitial kidney disease 4 |
| DOID:0061120 |
autosomal dominant tubulointerstitial kidney disease 5 |
| DOID:0061121 |
autosomal dominant tubulointerstitial kidney disease 6 |
| DOID:0051028 |
autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis |
| DOID:0061114 |
autosomal recessive intellectual developmental disorder 83 |
| DOID:0060854 |
autosomal recessive pseudohypoaldosteronism type 1 |
| DOID:0060992 |
bent bone dysplasia syndrome 1 |
| DOID:0060993 |
bent bone dysplasia syndrome 2 |
| DOID:5154 |
borna disease |
| DOID:0060160 |
childhood spinal muscular atrophy |
| DOID:0111368 |
cholesterol-ester transfer protein deficiency |
| DOID:0070614 |
chromosome 11 partial duplication syndrome |
| DOID:2536 |
chronic inflammatory demyelinating polyneuritis |
| DOID:0061016 |
combined or isolated pituitary growth hormone deficiency 7 |
| DOID:0061019 |
combined or isolated pituitary hormone deficiency 1 |
| DOID:0061018 |
combined or isolated pituitary hormone deficiency 8 |
| DOID:0061020 |
combined pituitary hormone deficiency 2 |
| DOID:0061021 |
combined pituitary hormone deficiency 3 |
| DOID:0061017 |
combined pituitary hormone deficiency 4 |
| DOID:0061022 |
combined pituitary hormone deficiency 6 |
| DOID:0061005 |
congenital amegakaryocytic thrombocytopenia 1 |
| DOID:0061002 |
congenital amegakaryocytic thrombocytopenia 2 |
| DOID:0060991 |
congenital disorder of deglycosylation |
| DOID:0060990 |
congenital disorder of deglycosylation 2 |
| DOID:0051047 |
congenital disorder of glycosylation type IIbb |
| DOID:0051048 |
congenital disorder of glycosylation type IIr |
| DOID:0051049 |
congenital disorder of glycosylation type IIt |
| DOID:0051050 |
congenital disorder of glycosylation type IIv |
| DOID:0051051 |
congenital disorder of glycosylation type IIw |
| DOID:0051052 |
congenital disorder of glycosylation type IIy |
| DOID:0051053 |
congenital disorder of glycosylation type IIz |
| DOID:0051001 |
congenital dyserythropoietic anemia type IIIb |
| DOID:0051002 |
congenital dyserythropoietic anemia type IVb |
| DOID:4668 |
congenital kyphosis |
| DOID:0051003 |
congenital nonspherocytic hemolytic anemia 1 |
| DOID:0051009 |
congenital nonspherocytic hemolytic anemia 10 |
| DOID:0051004 |
congenital nonspherocytic hemolytic anemia 3 |
| DOID:0051005 |
congenital nonspherocytic hemolytic anemia 4 |
| DOID:0051006 |
congenital nonspherocytic hemolytic anemia 5 |
| DOID:0051007 |
congenital nonspherocytic hemolytic anemia 8 |
| DOID:0051008 |
congenital nonspherocytic hemolytic anemia 9 |
| DOID:0061010 |
craniosynostosis 1 |
| DOID:0061009 |
craniosynostosis 2 |
| DOID:0061011 |
craniosynostosis 3 |
| DOID:0061012 |
craniosynostosis 4 |
| DOID:0061008 |
craniosynostosis 6 |
| DOID:0070564 |
dialysis disequilibrium syndrome |
| DOID:0060984 |
digenic dyskeratosis congenita |
| DOID:0060994 |
encephalopathy due to defective mitochondrial and peroxisomal fission 2 |
| DOID:0070613 |
familial renal glucosuria |
| DOID:0061025 |
familial restrictive cardiomyopathy 6 |
| DOID:0061015 |
female-restricted Wieacker-Wolff syndrome |
| DOID:0070616 |
glycine encephalopathy 1 |
| DOID:0061001 |
glycine encephalopathy 2 |
| DOID:0061030 |
hemophilia |
| DOID:0061026 |
hereditary pyropoikilocytosis |
| DOID:0061102 |
hypertrophic cardiomyopathy 27 |
| DOID:0050156 |
idiopathic pulmonary fibrosis |
| DOID:0061070 |
immunodeficiency 100 |
| DOID:0061071 |
immunodeficiency 101 |
| DOID:0061072 |
immunodeficiency 102 |
| DOID:0061075 |
immunodeficiency 106 |
| DOID:0061076 |
immunodeficiency 107 |
| DOID:0061077 |
immunodeficiency 108 |
| DOID:0061078 |
immunodeficiency 109 |
| DOID:0061079 |
immunodeficiency 112 |
| DOID:0061080 |
immunodeficiency 114 |
| DOID:0061081 |
immunodeficiency 115 |
| DOID:0061082 |
immunodeficiency 116 |
| DOID:0061083 |
immunodeficiency 117 |
| DOID:0061084 |
immunodeficiency 118 |
| DOID:0061085 |
immunodeficiency 119 |
| DOID:0061086 |
immunodeficiency 120 |
| DOID:0061087 |
immunodeficiency 121 |
| DOID:0061088 |
immunodeficiency 122 |
| DOID:0061089 |
immunodeficiency 123 |
| DOID:0061091 |
immunodeficiency 125 |
| DOID:0061092 |
immunodeficiency 127 |
| DOID:0061093 |
immunodeficiency 128 |
| DOID:0061094 |
immunodeficiency 129 |
| DOID:0061095 |
immunodeficiency 130 |
| DOID:0061101 |
immunodeficiency 132A |
| DOID:0061097 |
immunodeficiency 132B |
| DOID:0061096 |
immunodeficiency 133 |
| DOID:0061051 |
immunodeficiency 80 |
| DOID:0061052 |
immunodeficiency 81 |
| DOID:0061053 |
immunodeficiency 82 |
| DOID:0061054 |
immunodeficiency 84 |
| DOID:0061055 |
immunodeficiency 85 |
| DOID:0061056 |
immunodeficiency 86 |
| DOID:0061057 |
immunodeficiency 87 |
| DOID:0061058 |
immunodeficiency 88 |
| DOID:0061059 |
immunodeficiency 89 |
| DOID:0061060 |
immunodeficiency 90 |
| DOID:0061061 |
immunodeficiency 91 |
| DOID:0061062 |
immunodeficiency 92 |
| DOID:0061063 |
immunodeficiency 93 |
| DOID:0061064 |
immunodeficiency 94 |
| DOID:0061065 |
immunodeficiency 95 |
| DOID:0061066 |
immunodeficiency 96 |
| DOID:0061067 |
immunodeficiency 97 |
| DOID:0061068 |
immunodeficiency 98 |
| DOID:0061069 |
immunodeficiency 99 |
| DOID:0051044 |
infantile-onset myofibrillar myopathy 12 with cardiomyopathy |
| DOID:0070600 |
intellectual disability and myopathy syndrome |
| DOID:0051029 |
mitochondrial DNA depletion syndrome-21 |
| DOID:0060333 |
mitochondrial complex V (ATP synthase) deficiency nuclear type 4 |
| DOID:0070619 |
mitochondrial trifunctional protein deficiency 1 |
| DOID:0060999 |
mitochondrial trifunctional protein deficiency 2 |
| DOID:0051045 |
myofibrillar myopathy 13 with rimmed vacuoles |
| DOID:0051030 |
neurodevelopmental disorder with microcephaly, absent speech, and hypotonia |
| DOID:0061023 |
nonphotosensitive trichothiodystrophy 8 |
| DOID:0061024 |
nonphotosensitive trichothiodystrophy 9 |
| DOID:0061014 |
ovarian dysgenesis 10 |
| DOID:0061013 |
ovarian dysgenesis 9 |
| DOID:0061003 |
pancreatic agenesis 1 |
| DOID:0060988 |
pancreatic agenesis 2 |
| DOID:146 |
papilledema |
| DOID:0061004 |
poor metabolism of thiopurines 1 |
| DOID:0060996 |
poor metabolism of thiopurines 2 |
| DOID:9373 |
postural kyphosis |
| DOID:0060987 |
preaxial polydactyly I |
| DOID:0060986 |
preaxial polydactyly II |
| DOID:0060985 |
preaxial polydactyly type IV |
| DOID:0051031 |
primary autosomal recessive microcephaly 20 |
| DOID:0051032 |
primary autosomal recessive microcephaly 21 |
| DOID:0051033 |
primary autosomal recessive microcephaly 22 |
| DOID:0051034 |
primary autosomal recessive microcephaly 23 |
| DOID:0051035 |
primary autosomal recessive microcephaly 24 |
| DOID:0051036 |
primary autosomal recessive microcephaly 25 |
| DOID:0051039 |
primary autosomal recessive microcephaly 28 |
| DOID:0051040 |
primary autosomal recessive microcephaly 29 |
| DOID:0051041 |
primary autosomal recessive microcephaly 30 |
| DOID:0051013 |
pseudohypoparathyroidism type 1C |
| DOID:0061103 |
retinitis pigmentosa 76 |
| DOID:0061113 |
retinitis pigmentosa 78 |
| DOID:0061108 |
retinitis pigmentosa 79 |
| DOID:0061111 |
retinitis pigmentosa 80 |
| DOID:0061106 |
retinitis pigmentosa 91 |
| DOID:0061107 |
retinitis pigmentosa 92 |
| DOID:0061105 |
retinitis pigmentosa 93 |
| DOID:0061112 |
retinitis pigmentosa 95 |
| DOID:0061110 |
retinitis pigmentosa 97 |
| DOID:0061109 |
retinitis pigmentosa 98 |
| DOID:0070617 |
rhabdoid tumor predisposition syndrome |
| DOID:0070618 |
rhabdoid tumor predisposition syndrome 1 |
| DOID:0060997 |
rhabdoid tumor predisposition syndrome 2 |
| DOID:0070621 |
ring chromosome 14 syndrome |
| DOID:0070622 |
ring chromosome 20 syndrome |
| DOID:0070620 |
ring chromosome syndrome |
| DOID:0061074 |
severe combined immunodeficiency 105 |
| DOID:0061090 |
severe combined immunodeficiency 124 |
| DOID:0060989 |
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 |
| DOID:0061007 |
sideroblastic anemia 5 |
| DOID:0070634 |
sitosterolemia 1 |
| DOID:0051046 |
spondyloepimetaphyseal dysplasia, Li-Shao-Li type |
| DOID:0060998 |
striatal degeneration 2 |
| DOID:0051016 |
visceral heterotaxy 1 |
| DOID:0051024 |
visceral heterotaxy 10 |
| DOID:0051025 |
visceral heterotaxy 11 |
| DOID:0051026 |
visceral heterotaxy 12 |
| DOID:0051027 |
visceral heterotaxy 13 |
| DOID:0051017 |
visceral heterotaxy 2 |
| DOID:0051018 |
visceral heterotaxy 3 |
| DOID:0051019 |
visceral heterotaxy 4 |
| DOID:0051020 |
visceral heterotaxy 6 |
| DOID:0051021 |
visceral heterotaxy 7 |
| DOID:0051022 |
visceral heterotaxy 8 |
| DOID:0051023 |
visceral heterotaxy 9 |