Acrocephalosyndactylia
Disease ID: disease_node_949
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| Dbxref | GARD:7380, MESH:D000168, MIM:101600, NCI:C99100, ORDO:710, SNOMEDCT_US_2023_03_01:70410008, UMLS_CUI:C0220658 |
|---|---|
| Subclassof | DOID_12960, DOID_0050736 |
| Data Source | DOID, MESH |
| Synonyms | acrocephalosyndactylia type V |
| Mesh Id | D000168 |
| Mesh Label | Acrocephalosyndactylia |
| Mesh Subclassof | D003398, D013576 |
| Doid Label | Pfeiffer syndrome |
| Doid Description | An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_949 |
| Doid Id | DOID_14705 |
| Label | Acrocephalosyndactylia |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)