Terminology Service for NFDI4Health
Focal Dermal Hypoplasia
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http://purl.obolibrary.org/obo/NCIT_C84715
A genetic multisystem disorder caused by mutations in the PORCN gene. It is characterized by atrophy and hypoplasia of skin, eye defects, face defects, skeletal abnormalities, and limb malformations. [ ]
Term info
Label
Focal Dermal Hypoplasia
Synonyms
- Focal Dermal Hypoplasia
Preferred Name
Focal Dermal Hypoplasia
Semantic Type
Disease or Syndrome
UMLS CUI
C0016395
code
C84715