| DOID:0070738 |
Al Kaissi syndrome |
| DOID:0051080 |
Alport syndrome 3B |
| DOID:0070692 |
Davis-Wells syndrome |
| DOID:0070693 |
Ebstein-Bezieau neurodevelopmental 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:0070746 |
HELIX syndrome |
| DOID:0070711 |
Harel-Tora neurodevelopmental syndrome |
| DOID:0061300 |
Hermansky-Pudlak syndrome 10 |
| DOID:0061301 |
Hermansky-Pudlak syndrome 11 |
| 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:0051082 |
Parkinson's disease 27 |
| 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:0070721 |
Valence-Farazi cerebellar ataxia syndrome |
| DOID:0070686 |
X-linked congenital hydrocephalus |
| DOID:0070698 |
X-linked neurodevelopmental disorder with poor or absent speech and behavioral abnormalities |
| DOID:0070695 |
Yu-Kury neurodevelopmental syndrome |
| DOID:0081462 |
Zeitz-Han retinal dystrophy |
| DOID:0070722 |
adult-onset leukoencephalopathy without lacunae |
| DOID:2934 |
aleutian mink disease |
| DOID:0070735 |
auditory neuropathy and optic atrophy |
| DOID:0070688 |
autosomal recessive congenital indifference to pain |
| 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: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: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: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: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: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:0061212 |
hypocholesteremia |
| DOID:0070720 |
immune dysregulation, neurodevelopmental defects, and colitis |
| DOID:0070747 |
immunodeficiency, developmental delay, and hypohomocysteinemia |
| DOID:0070748 |
joint laxity, short stature, and myopia |
| DOID:0061271 |
liver glycogen storage disease |
| DOID:0070690 |
lobodontia |
| DOID:0070702 |
measles inclusion body encephalitis |
| 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: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:0070694 |
neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities |
| DOID:0070713 |
neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities |
| DOID:0070754 |
neurodevelopmental disorder with microcephaly, ataxia, and seizures |
| DOID:0070755 |
neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy |
| DOID:0070696 |
neurodevelopmental disorder with seizures, hypotonia, and variable spasticity |
| 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:0070756 |
neurodevelopmental disorder with variable motor and speech impairment |
| DOID:0070687 |
normal pressure hydrocephalus 1 |
| DOID:146 |
papilledema |
| DOID:0051081 |
polycystic kidney disease 8 |
| 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:0070701 |
small fiber neuropathy |
| DOID:0070729 |
spermatogenic failure 100 |
| DOID:0070730 |
spermatogenic failure 101 |
| DOID:0070731 |
spermatogenic failure 102 |
| DOID:0070725 |
spermatogenic failure 96 |
| DOID:0070726 |
spermatogenic failure 97 |
| DOID:0070727 |
spermatogenic failure 98 |
| DOID:0070728 |
spermatogenic failure 99 |
| DOID:0061213 |
telomere biology disorder |