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Metadata
ID DOID:2120
Name focal dermal hypoplasia
Definition A X-linked dominant disease 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.
https://rarediseases.info.nih.gov/diseases/6457/disease
Xrefs

CSP2005:0726-8244

GARD:6457

MESH:D005489

NCI:C84715

OMIM:305600

ORDO:2092

SNOMEDCT_US_2018_03_01:2298005

UMLS_CUI:C0016395

Subsets

NCIthesaurus

Synonyms

Goltz syndrome [EXACT]

Parent Relationships

is_a X-linked dominant disease

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