retinitis pigmentosa 51; RP51
|
http://purl.obolibrary.org/obo/MONDO_0013274 |
|
primary biliary cirrhosis and systemic scleroderma
|
13276 |
|
lymphedema, hereditary, IC
|
13278 |
|
lymphedema, hereditary, IC; LMPH1C
|
http://purl.obolibrary.org/obo/MONDO_0013278 |
|
hereditary lymphedema caused by mutation in GJC2
|
13278 |
|
retinitis pigmentosa caused by mutation in TTC8
|
13274 |
|
primary biliary cirrhosis, Scleroderma, Raynaud disease, and telangiectasia
|
13276 |
|
Rett syndrome, congenital variant
|
13270 |
|
glucosephosphate isomerase deficiency
|
13275 |
|
chromosome 14q11-q22 deletion syndrome
|
13272 |
|
hemolytic anemia due to glucophosphate isomerase deficiency
|
13275 |
|