| Metadata | |
|---|---|
| ID | DOID:2120 |
| Name | focal dermal hypoplasia |
| Definition | 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. https://rarediseases.info.nih.gov/diseases/6457/disease |
| Xrefs |
SNOMEDCT_US_2023_03_01:205573006 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
FDH [EXACT] FODH [EXACT] Goltz syndrome [EXACT] Goltz-Gorlin syndrome [EXACT] |
| Parent Relationships |
is_a X-linked dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some X-linked dominant inheritance |