| DOID:0050457 |
Sertoli cell-only syndrome |
| DOID:2934 |
aleutian mink disease |
| DOID:0070615 |
autoinflammation, antibody deficiency, and immune dysregulation syndrome |
| 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: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:0061002 |
congenital amegakaryocytic thrombocytopenia 2 |
| DOID:0060991 |
congenital disorder of deglycosylation |
| DOID:0060990 |
congenital disorder of deglycosylation 2 |
| DOID:4668 |
congenital kyphosis |
| 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:0070616 |
glycine encephalopathy 1 |
| DOID:0061001 |
glycine encephalopathy 2 |
| DOID:0050156 |
idiopathic pulmonary fibrosis |
| DOID:0070600 |
intellectual disability and myopathy syndrome |
| 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: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:0070617 |
rhabdoid tumor predisposition syndrome |
| DOID:0070618 |
rhabdoid tumor predisposition syndrome 1 |
| DOID:0060997 |
rhabdoid tumor predisposition syndrome 2 |
| DOID:0060989 |
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 |
| DOID:0060998 |
striatal degeneration 2 |