| 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: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:0051082 |
Parkinson's disease 27 |
| DOID:0070699 |
STAD syndrome |
| DOID:0050457 |
Sertoli cell-only 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:2934 |
aleutian mink disease |
| DOID:0070688 |
autosomal recessive congenital indifference to pain |
| DOID:0060854 |
autosomal recessive pseudohypoaldosteronism type 1 |
| DOID:5154 |
borna disease |
| 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:0051078 |
congenital anomalies of the kidney and urinary tract 3 |
| 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: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:0061271 |
liver glycogen storage disease |
| DOID:0070690 |
lobodontia |
| DOID:0070702 |
measles inclusion body encephalitis |
| DOID:0051079 |
monogenic chronic kidney disease |
| DOID:0061272 |
muscle glycogen storage disease |
| DOID:0070694 |
neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities |
| 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:0070687 |
normal pressure hydrocephalus 1 |
| DOID:146 |
papilledema |
| DOID:0051081 |
polycystic kidney disease 8 |
| DOID:0061298 |
retinitis pigmentosa 100 |
| DOID:0061299 |
retinitis pigmentosa 101 |
| DOID:0070701 |
small fiber neuropathy |
| DOID:0061213 |
telomere biology disorder |