DISEASE NAME | Mayer-Rokitansky-Küster-Hauser syndrome |
DISEASE CATEGORY (ICD10) | Congenital malformations, deformations and chromosomal abnormalities |
DISEASE ID (ICD10) | Q51.8 |
DISEASE ID (OMIM) | 277000; 601076 |
9 combinations linked to 3109 | OLI1136; OLI1137; OLI1138; OLI1139; OLI1140; OLI1141; OLI1142; OLI1143; OLI1144 |
9 gene combinations linked to 3109 | TRIM71; WNT9B; AMH; HOXA10; AMH; CRTAP; AMH; MEFV; CFTR; SHOX; ZNF263; CNOT1; WNT4; MEFV; WNT4; LAMC1; MMP14; ZNF205; LRP10; SHOX |
ORPHANET ID | 3109 |