| DOID:0061197 |
BCARD syndrome |
| DOID:0061198 |
Bethlem myopathy 1A |
| DOID:0061199 |
Bethlem myopathy 1B |
| DOID:0061200 |
Bethlem myopathy 1C |
| DOID:0061201 |
Bethlem myopathy 2 |
| DOID:0070660 |
Lafora disease 1 |
| DOID:0061211 |
Lafora disease 2 |
| DOID:0061196 |
Mietens syndrome |
| DOID:0070652 |
Nil-Deshwan neurodevelopmental syndrome |
| DOID:0050457 |
Sertoli cell-only syndrome |
| DOID:0070655 |
Usher syndrome type 1B |
| DOID:0051058 |
acute calcific periarthritis |
| DOID:0070658 |
alcohol-associated liver disease |
| DOID:2934 |
aleutian mink disease |
| DOID:0070659 |
alpha-gal syndrome |
| DOID:0051059 |
autosomal recessive Segawa syndrome |
| DOID:0111797 |
autosomal recessive congenital nystagmus |
| DOID:0061167 |
autosomal recessive proximal renal tubular acidosis |
| DOID:0060854 |
autosomal recessive pseudohypoaldosteronism type 1 |
| DOID:0051057 |
avoidant/restrictive food intake disorder |
| DOID:0061214 |
biliary obstruction |
| DOID:5154 |
borna disease |
| DOID:0061209 |
branchiootic syndrome 1 |
| DOID:0061210 |
branchiootic syndrome 3 |
| DOID:0070635 |
cardiovascular-kidney-metabolic syndrome |
| 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:4668 |
congenital kyphosis |
| DOID:0061202 |
congenital muscular dystrophy with rapid progression |
| DOID:0060261 |
congenital ptosis |
| DOID:0070657 |
congenital variant of Rett syndrome |
| DOID:0061139 |
coronary atherosclerosis |
| DOID:0061176 |
developmental and epileptic encephalopathy 118 |
| DOID:0070564 |
dialysis disequilibrium syndrome |
| DOID:0061204 |
dihydrolipoamide dehydrogenase deficiency |
| DOID:0061223 |
epidermolytic hyperkeratosis 2A |
| DOID:0061208 |
epidermolytic hyperkeratosis 2B |
| DOID:0061151 |
familial isolated hypoparathyroidism 2 |
| DOID:0051060 |
frontotemporal dementia 1 |
| DOID:3462 |
hamartoma |
| DOID:0070656 |
hamartoma syndrome |
| DOID:0061215 |
hepatic fibrosis |
| DOID:0061212 |
hypocholesteremia |
| DOID:0050156 |
idiopathic pulmonary fibrosis |
| DOID:0061164 |
infantile onset multisystem autoimmune disease 5 |
| DOID:0061203 |
maple syrup urine disease type IA |
| DOID:0061206 |
maple syrup urine disease type IB |
| DOID:0061207 |
maple syrup urine disease type II |
| DOID:0061205 |
mild variant of maple syrup urine disease |
| DOID:0060333 |
mitochondrial complex V (ATP synthase) deficiency nuclear type 4 |
| DOID:0061192 |
neonatal inflammatory skin and bowel disease 1 |
| DOID:0061191 |
neonatal nephrocutaneous inflammatory syndrome |
| DOID:0061194 |
nephrotic syndrome type 24 |
| DOID:0061193 |
nephrotic syndrome type 26 |
| DOID:146 |
papilledema |
| DOID:0061216 |
pheochromocytoma/paraganglioma syndrome 1 |
| DOID:0061217 |
pheochromocytoma/paraganglioma syndrome 2 |
| DOID:0061218 |
pheochromocytoma/paraganglioma syndrome 3 |
| DOID:0061219 |
pheochromocytoma/paraganglioma syndrome 4 |
| DOID:0061220 |
pheochromocytoma/paraganglioma syndrome 5 |
| DOID:0061221 |
pheochromocytoma/paraganglioma syndrome 6 |
| DOID:0061222 |
pheochromocytoma/paraganglioma syndrome 7 |
| DOID:0060996 |
poor metabolism of thiopurines 2 |
| DOID:9373 |
postural kyphosis |
| DOID:0061195 |
proximal renal tubular acidosis-ocular anomaly syndrome |
| DOID:0061140 |
ragopathy |
| DOID:0061127 |
retinitis pigmentosa 99 |
| DOID:0061157 |
retinopathy sensory neuropathy syndrome |
| DOID:0070622 |
ring chromosome 20 syndrome |
| DOID:0061213 |
telomere biology disorder |