All terms in MONDO
| Label | Id | Description |
|---|---|---|
| hereditary ataxia | MONDO_0100309 | |
| colobomatous optic disc-macular atrophy-chorioretinopathy syndrome | MONDO_0008927 | |
| developmental defect of the eye | MONDO_0020145 | |
| COFS syndrome | MONDO_0008926 | |
| syndromic microphthalmia | MONDO_0016073 | |
| DNA repair disease | MONDO_0021190 | |
| cataract 46 juvenile-onset | MONDO_0008925 | |
| early-onset non-syndromic cataract | MONDO_0011060 | |
| congenital cataract-ichthyosis syndrome | MONDO_0008924 | |
| autosomal ichthyosis syndrome | MONDO_0017270 | |
| autosomal recessive palmoplantar keratoderma and congenital alopecia | MONDO_0008923 | |
| diffuse palmoplantar keratoderma | MONDO_0017666 | |
| ectodermal dysplasia syndrome | MONDO_0019287 | |
| Sengers syndrome | MONDO_0008922 | |
| mitochondrial substrate carrier disorder | MONDO_0016801 | |
| disorder of phospholipids, sphingolipids and fatty acids biosynthesis | MONDO_0018117 | |
| mitochondrial DNA depletion syndrome | MONDO_0018158 | |
| carnosinemia | MONDO_0008921 | |
| homocarnosinosis | MONDO_0009351 | |
| carnitine deficiency, myopathic | MONDO_0008920 |