Focal Dermal Hypoplasia
Disease ID: disease_node_3276
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| Dbxref | GARD:6457, MESH:D005489, MIM:305600, NCI:C84715, ORDO:2092, SNOMEDCT_US_2023_03_01:205573006, UMLS_CUI:C0016395 |
|---|---|
| Subclassof | DOID_225, DOID_0080009 |
| Data Source | DOID, MESH |
| Synonyms | FDH, FODH, Goltz syndrome, Goltz-Gorlin syndrome |
| Mesh Id | D005489 |
| Mesh Label | Focal Dermal Hypoplasia |
| Mesh Subclassof | D040181, D004413, D004476 |
| Doid Label | focal dermal hypoplasia |
| Doid Description | A syndrome characterized at birth by streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases, and has_material_basis_in heterozygous mutation in the PORCN gene on chromosome Xp11.23. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000146 |
| Disease Node Id | disease_node_3276 |
| Doid Id | DOID_2120 |
| Label | Focal Dermal Hypoplasia |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from X-Linked Domit Disease(ID:disease_node_13587) (Disease)