| DOID:0061344 |
Adams-Oliver syndrome 1 |
| DOID:0061345 |
Adams-Oliver syndrome 2 |
| DOID:0061346 |
Adams-Oliver syndrome 4 |
| DOID:0061347 |
Adams-Oliver syndrome 5 |
| DOID:0061348 |
Adams-Oliver syndrome 6 |
| DOID:0070738 |
Al Kaissi syndrome |
| DOID:0051080 |
Alport syndrome 3B |
| DOID:0070787 |
Alsahan-Harris syndrome |
| DOID:0070836 |
Charcot-Marie-tooth disease axonal type 2FF |
| DOID:0070837 |
Charcot-Marie-tooth disease axonal type 2HH |
| DOID:0070838 |
Charcot-Marie-tooth disease axonal type 2II |
| DOID:0070839 |
Charcot-Marie-tooth disease axonal type 2LL |
| DOID:0070840 |
Charcot-Marie-tooth disease axonal type 2MM |
| DOID:0070833 |
Charcot-Marie-tooth disease type 1H |
| DOID:0070834 |
Charcot-Marie-tooth disease type 1I |
| DOID:0070835 |
Charcot-Marie-tooth disease type 1J |
| DOID:0051092 |
Damseh-Danson neurodevelopmental disorder |
| DOID:0070692 |
Davis-Wells syndrome |
| DOID:0070792 |
Dursun-Ozgul neurodevelopmental syndrome |
| DOID:0070693 |
Ebstein-Bezieau neurodevelopmental syndrome |
| DOID:0070793 |
FICUS syndrome |
| DOID:0070802 |
Gabriele-de Vries syndrome |
| DOID:0061293 |
Galloway-Mowat syndrome 10 |
| DOID:0061289 |
Galloway-Mowat syndrome 6 |
| DOID:0061290 |
Galloway-Mowat syndrome 7 |
| DOID:0061291 |
Galloway-Mowat syndrome 8 |
| DOID:0061292 |
Galloway-Mowat syndrome 9 |
| DOID:0061332 |
Glanzmann thrombasthenia 2 |
| DOID:0070794 |
Guillouet-Gordon syndrome |
| DOID:0070746 |
HELIX syndrome |
| DOID:0070781 |
HER2-low breast cancer |
| DOID:0070782 |
HER2-ultralow breast cancer |
| DOID:0070711 |
Harel-Tora neurodevelopmental syndrome |
| DOID:0061300 |
Hermansky-Pudlak syndrome 10 |
| DOID:0061301 |
Hermansky-Pudlak syndrome 11 |
| DOID:0070796 |
ICHAD syndrome |
| DOID:0061336 |
Joubert syndrome 34 |
| DOID:0061337 |
Joubert syndrome 35 |
| DOID:0061338 |
Joubert syndrome 36 |
| DOID:0061340 |
Joubert syndrome 37 |
| DOID:0061341 |
Joubert syndrome 38 |
| DOID:0061342 |
Joubert syndrome 39 |
| DOID:0061343 |
Joubert syndrome 40 |
| DOID:0070801 |
Li-Takada-Miyake syndrome |
| DOID:0070700 |
Luo-Agrawal neurodevelopmental syndrome |
| DOID:0061295 |
Meckel syndrome 10 |
| DOID:0061296 |
Meckel syndrome 11 |
| DOID:0061297 |
Meckel syndrome 12 |
| DOID:0070703 |
Meckel syndrome 14 |
| DOID:0061294 |
Meckel syndrome 9 |
| DOID:0070749 |
Mendez-Johnson immunoneurologic syndrome |
| DOID:0070805 |
Muggenthaler-Chowdhury-Chioza syndrome |
| DOID:0051099 |
Paget disease of bone 7 |
| DOID:0051082 |
Parkinson's disease 27 |
| DOID:0070823 |
Paul-Chao neurodevelopmental syndrome |
| DOID:0070757 |
Pilarowski-Bjornsson syndrome |
| DOID:0070709 |
Popov-Chang syndrome |
| DOID:0070715 |
Ramond-Elliott neurodevelopmental syndrome |
| DOID:0070699 |
STAD syndrome |
| DOID:0050457 |
Sertoli cell-only syndrome |
| DOID:0070826 |
Tayoun-Maawali syndrome |
| DOID:0070721 |
Valence-Farazi cerebellar ataxia syndrome |
| DOID:0070803 |
Witteveen-Kolk syndrome |
| DOID:0070686 |
X-linked congenital hydrocephalus |
| DOID:0070827 |
X-linked female-restricted neurodegenerative disorder with Parkinsonism and cognitive impairment |
| DOID:0070698 |
X-linked neurodevelopmental disorder with poor or absent speech and behavioral abnormalities |
| DOID:0070828 |
X-linked retinal dystrophy, Gardner-Hardcastle type |
| DOID:0070695 |
Yu-Kury neurodevelopmental syndrome |
| DOID:0081462 |
Zeitz-Han retinal dystrophy |
| DOID:0051102 |
acrofrontofacionasal dysostosis |
| DOID:0051103 |
acrofrontofacionasal dysostosis 2 |
| DOID:0051104 |
acrofrontofacionasal dysostosis 3 |
| DOID:0070722 |
adult-onset leukoencephalopathy without lacunae |
| DOID:2934 |
aleutian mink disease |
| DOID:0070735 |
auditory neuropathy and optic atrophy |
| DOID:0070788 |
autosomal dominant adult-onset leukodystrophy without amyloid angiopathy |
| DOID:0081468 |
autosomal dominant intellectual developmental disorder 76 |
| DOID:0081469 |
autosomal dominant intellectual developmental disorder 77 |
| DOID:0081467 |
autosomal dominant intellectual developmental disorder 78 |
| DOID:0070688 |
autosomal recessive congenital indifference to pain |
| DOID:0061284 |
autosomal recessive dyskeratosis congenita 8 |
| DOID:0070739 |
autosomal recessive neurodevelopmental disorder with or without hyperkinetic movements and seizures |
| DOID:0070759 |
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 6 |
| DOID:0060854 |
autosomal recessive pseudohypoaldosteronism type 1 |
| DOID:5154 |
borna disease |
| DOID:0070789 |
cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome |
| DOID:0070741 |
cerebellar atrophy with seizures and variable developmental delay |
| DOID:0070740 |
cerebellar atrophy, developmental delay, and seizures |
| DOID:0070648 |
cherubism |
| DOID:0070649 |
cherubism 2 |
| DOID:0060160 |
childhood spinal muscular atrophy |
| DOID:0111368 |
cholesterol-ester transfer protein deficiency |
| DOID:2536 |
chronic inflammatory demyelinating polyneuritis |
| DOID:0051105 |
clear cell odontogenic carcinoma |
| DOID:0070742 |
combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia |
| DOID:0051078 |
congenital anomalies of the kidney and urinary tract 3 |
| DOID:0070743 |
congenital facial palsy with ptosis and velopharyngeal dysfunction |
| DOID:0070681 |
congenital hydrocephalus |
| DOID:0070682 |
congenital hydrocephalus 1 |
| DOID:0070683 |
congenital hydrocephalus 2 |
| DOID:0070684 |
congenital hydrocephalus 3 |
| DOID:0070685 |
congenital hydrocephalus 4 |
| DOID:0070790 |
congenital nonprogressive movement disorder with ataxia and eye movement abnormalities |
| DOID:0070791 |
craniofaciocardiohepatic syndrome |
| DOID:0070691 |
craniosynostosis-scoliosis syndrome |
| DOID:0070724 |
dental radicular dysplasia |
| DOID:0070704 |
dentin dysplasia type IA |
| DOID:0070705 |
dentin dysplasia type IB |
| DOID:0070706 |
dentin dysplasia type IC |
| DOID:0070707 |
dentin dysplasia type II |
| DOID:0070708 |
dentin dysplasia with sclerotic bones |
| DOID:0051083 |
developmental and epileptic encephalopathy 111 |
| DOID:0051084 |
developmental and epileptic encephalopathy 112 |
| DOID:0051085 |
developmental and epileptic encephalopathy 113 |
| DOID:0051086 |
developmental and epileptic encephalopathy 114 |
| DOID:0051087 |
developmental and epileptic encephalopathy 115 |
| DOID:0051088 |
developmental and epileptic encephalopathy 119 |
| DOID:0051089 |
developmental and epileptic encephalopathy 120 |
| DOID:0051090 |
developmental and epileptic encephalopathy 121 |
| DOID:0051091 |
developmental and epileptic encephalopathy 122 |
| DOID:0070717 |
developmental delay with sleep apnea |
| DOID:0070712 |
developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies |
| DOID:0070723 |
dyschromatosis, ichthyosis, deafness, and atopic disease |
| DOID:0070744 |
early childhood-onset progressive leukodystrophy |
| DOID:0070806 |
early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy |
| DOID:0070745 |
early-onset progressive encephalopathy with brain atrophy and spasticity |
| DOID:0070734 |
episodic mitochondrial myopathy with optic atrophy and reversible leukoencephalopathy |
| DOID:0070732 |
familial juvenile hyperuricemic nephropathy 3 |
| DOID:0070771 |
gingival fibromatosis 1 |
| DOID:0070772 |
gingival fibromatosis 2 |
| DOID:0070773 |
gingival fibromatosis 3 |
| DOID:0070774 |
gingival fibromatosis 4 |
| DOID:0070775 |
gingival fibromatosis 6 |
| DOID:0061285 |
glycogen storage disease X |
| DOID:0061286 |
glycogen storage disease XI |
| DOID:0061287 |
glycogen storage disease XII |
| DOID:0061288 |
glycogen storage disease XIII |
| DOID:0070656 |
hamartoma syndrome |
| DOID:0070689 |
hereditary sensory and autonomic neuropathy type 2D |
| DOID:0070785 |
hormone receptor-negative breast cancer |
| DOID:0070778 |
hormone receptor-negative/HER2-positive breast cancer |
| DOID:0070784 |
hormone receptor-positive breast cancer |
| DOID:0070780 |
hormone receptor-positive/HER2-negative breast cancer |
| DOID:0070779 |
hormone receptor-positive/HER2-positive breast cancer |
| DOID:0051106 |
hyalinizing clear cell carcinoma |
| DOID:0051100 |
hydroxyprolinemia |
| DOID:0061212 |
hypocholesteremia |
| DOID:0070795 |
hyposulfatemia with skeletal dysplasia |
| DOID:0070783 |
idiopathic generalized epilepsy 20 |
| DOID:0070720 |
immune dysregulation, neurodevelopmental defects, and colitis |
| DOID:0070747 |
immunodeficiency, developmental delay, and hypohomocysteinemia |
| DOID:0070797 |
immunodysregulation with variable immunodeficiency and autoimmunity |
| DOID:0070776 |
impaired intellectual development and distinctive facial features with or without cardiac defects |
| DOID:0070798 |
infection-induced acute-onset axonal neuropathy |
| DOID:0081464 |
isolated glycolic aciduria |
| DOID:0070748 |
joint laxity, short stature, and myopia |
| DOID:0070799 |
kyphomelic dysplasia, Itai-Ikegawa type |
| DOID:0070800 |
leukodystrophy and cerebellar atrophy |
| DOID:0061271 |
liver glycogen storage disease |
| DOID:0070690 |
lobodontia |
| DOID:0070804 |
lung-brain developmental disorder |
| DOID:0070702 |
measles inclusion body encephalitis |
| DOID:0070829 |
microcephaly, epilepsy, and diabetes syndrome |
| DOID:0070830 |
microcephaly, epilepsy, and diabetes syndrome 1 |
| DOID:0070831 |
microcephaly, epilepsy, and diabetes syndrome 2 |
| DOID:0070750 |
mitochondrial myopathy and ataxia |
| DOID:0070751 |
mitochondrial neurodevelopmental disorder with abnormal movements and lactic acidosis, with or without seizures |
| DOID:0070737 |
multiple mitochondrial dysfunctions syndrome 10 |
| DOID:0070733 |
multiple mitochondrial dysfunctions syndrome 7 |
| DOID:0070736 |
multiple mitochondrial dysfunctions syndrome 9B |
| DOID:0061272 |
muscle glycogen storage disease |
| DOID:0070752 |
neonatal severe encephalopathy with lactic acidosis and brain abnormalities |
| DOID:0070719 |
neurocardiorenal malformation syndrome |
| DOID:0070807 |
neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima |
| DOID:0070808 |
neurodevelopmental disorder with ataxia and brain abnormalities |
| DOID:0070753 |
neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter |
| DOID:0070718 |
neurodevelopmental disorder with behavioral abnormalities and childhood-onset spastic paraplegia |
| DOID:0070809 |
neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities |
| DOID:0070694 |
neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities |
| DOID:0070810 |
neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures |
| DOID:0070713 |
neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities |
| DOID:0070811 |
neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech |
| DOID:0070812 |
neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia |
| DOID:0081466 |
neurodevelopmental disorder with intellectual, visual, and language impairment |
| DOID:0070754 |
neurodevelopmental disorder with microcephaly, ataxia, and seizures |
| DOID:0070832 |
neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity |
| DOID:0070755 |
neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy |
| DOID:0070814 |
neurodevelopmental disorder with poor growth, seizures, and brain abnormalities |
| DOID:0070815 |
neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities |
| DOID:0070816 |
neurodevelopmental disorder with progressive spasticity and brain abnormalities |
| DOID:0070817 |
neurodevelopmental disorder with seizures and joint laxity |
| DOID:0070696 |
neurodevelopmental disorder with seizures, hypotonia, and variable spasticity |
| DOID:0070818 |
neurodevelopmental disorder with seizures, spastic tetraparesis, and vision impairment |
| DOID:0081465 |
neurodevelopmental disorder with spasticity, hypoplasia of the corpus callosum, and recurrent infections |
| DOID:0070697 |
neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter |
| DOID:0070710 |
neurodevelopmental disorder with speech delay and behavioral abnormalities |
| DOID:0070714 |
neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities |
| DOID:0070819 |
neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language |
| DOID:0070756 |
neurodevelopmental disorder with variable motor and speech impairment |
| DOID:0070820 |
neurodevelopmental disorder with white matter abnormalities and gait disturbance |
| DOID:0070687 |
normal pressure hydrocephalus 1 |
| DOID:0070821 |
ocular pterygium-digital keloid dysplasia syndrome |
| DOID:0070822 |
oculovertebral syndrome |
| DOID:0061333 |
omphalocele-exstrophy-imperforate anus-spinal defects complex |
| DOID:0061302 |
oocyte/zygote/embryo maturation arrest |
| DOID:0061303 |
oocyte/zygote/embryo maturation arrest 1 |
| DOID:0061312 |
oocyte/zygote/embryo maturation arrest 10 |
| DOID:0061313 |
oocyte/zygote/embryo maturation arrest 11 |
| DOID:0061314 |
oocyte/zygote/embryo maturation arrest 12 |
| DOID:0061315 |
oocyte/zygote/embryo maturation arrest 13 |
| DOID:0061316 |
oocyte/zygote/embryo maturation arrest 14 |
| DOID:0061317 |
oocyte/zygote/embryo maturation arrest 15 |
| DOID:0061318 |
oocyte/zygote/embryo maturation arrest 16 |
| DOID:0061319 |
oocyte/zygote/embryo maturation arrest 17 |
| DOID:0061320 |
oocyte/zygote/embryo maturation arrest 18 |
| DOID:0061321 |
oocyte/zygote/embryo maturation arrest 19 |
| DOID:0061304 |
oocyte/zygote/embryo maturation arrest 2 |
| DOID:0061322 |
oocyte/zygote/embryo maturation arrest 20 |
| DOID:0061323 |
oocyte/zygote/embryo maturation arrest 21 |
| DOID:0061324 |
oocyte/zygote/embryo maturation arrest 22 |
| DOID:0061325 |
oocyte/zygote/embryo maturation arrest 23 |
| DOID:0061326 |
oocyte/zygote/embryo maturation arrest 24 |
| DOID:0061327 |
oocyte/zygote/embryo maturation arrest 25 |
| DOID:0061334 |
oocyte/zygote/embryo maturation arrest 26 |
| DOID:0061335 |
oocyte/zygote/embryo maturation arrest 27 |
| DOID:0061305 |
oocyte/zygote/embryo maturation arrest 3 |
| DOID:0061306 |
oocyte/zygote/embryo maturation arrest 4 |
| DOID:0061307 |
oocyte/zygote/embryo maturation arrest 5 |
| DOID:0061308 |
oocyte/zygote/embryo maturation arrest 6 |
| DOID:0061309 |
oocyte/zygote/embryo maturation arrest 7 |
| DOID:0061310 |
oocyte/zygote/embryo maturation arrest 8 |
| DOID:0061311 |
oocyte/zygote/embryo maturation arrest 9 |
| DOID:146 |
papilledema |
| DOID:0070768 |
peri-implant disease |
| DOID:0070769 |
peri-implant mucositis |
| DOID:0070770 |
peri-implantitis |
| DOID:0061328 |
platelet-type bleeding disorder 21 |
| DOID:0061329 |
platelet-type bleeding disorder 22 |
| DOID:0061330 |
platelet-type bleeding disorder 24 |
| DOID:0061331 |
platelet-type bleeding disorder 25 |
| DOID:0051081 |
polycystic kidney disease 8 |
| DOID:0070758 |
primary ciliary dyskinesia 46 |
| DOID:0070760 |
primary ciliary dyskinesia 47 and lissencephaly |
| DOID:0070761 |
primary ciliary dyskinesia 48 |
| DOID:0070762 |
primary ciliary dyskinesia 49 |
| DOID:0070763 |
primary ciliary dyskinesia 50 |
| DOID:0070764 |
primary ciliary dyskinesia 51 |
| DOID:0070765 |
primary ciliary dyskinesia 52 |
| DOID:0070766 |
primary ciliary dyskinesia 53 |
| DOID:0070767 |
primary ciliary dyskinesia 54 |
| DOID:0070813 |
progressive ataxia absent speech neurodevelopmental disorder with poor growth and dysmorphic facies |
| DOID:0070716 |
progressive microcephaly with simplified gyral pattern and cerebellar hypoplasia |
| DOID:0081463 |
recurrent respiratory papillomatosis |
| DOID:0061298 |
retinitis pigmentosa 100 |
| DOID:0061299 |
retinitis pigmentosa 101 |
| DOID:0051093 |
retinitis pigmentosa 102 |
| DOID:0051094 |
retinitis pigmentosa 103 |
| DOID:0051095 |
retinitis pigmentosa 104 |
| DOID:0051096 |
retinitis pigmentosa 105 |
| DOID:0051097 |
retinitis pigmentosa 106 |
| DOID:0051098 |
retinitis pigmentosa 107 |
| DOID:0051101 |
retinitis pigmentosa 108 |
| DOID:0070701 |
small fiber neuropathy |
| DOID:0070729 |
spermatogenic failure 100 |
| DOID:0070730 |
spermatogenic failure 101 |
| DOID:0070731 |
spermatogenic failure 102 |
| DOID:0081470 |
spermatogenic failure 103 |
| DOID:0070725 |
spermatogenic failure 96 |
| DOID:0070726 |
spermatogenic failure 97 |
| DOID:0070727 |
spermatogenic failure 98 |
| DOID:0070728 |
spermatogenic failure 99 |
| DOID:0070824 |
spondyloepimetaphyseal dysplasia with tracheal stenosis and ectodermal dysplasia |
| DOID:0070825 |
spondyloepiphyseal dysplasia, Holling type |
| DOID:0070777 |
syndromic X-linked intellectual developmental disorder, Snijders Blok type |
| DOID:0061213 |
telomere biology disorder |
| DOID:0070786 |
triple positive breast cancer |