OBO ID: DOID:2120
Term Name: focal dermal hypoplasia Search Ontology:
Synonyms:
  • FDH
  • FODH
  • Goltz syndrome
  • Goltz-Gorlin syndrome
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
References:
Ontology: Human Disease   (DOID:2120)
Relationships
is a type of:
OTHER focal dermal hypoplasia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PORCN Focal dermal hypoplasia 305600
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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