Search Ontology:
Human Disease

focal dermal hypoplasia

Term ID
DOID:2120
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 Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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