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DO Term : focal dermal hypoplasia [DOID:2120] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • Goltz-Gorlin syndrome,
  • OMIM:305600,
  • FODH,
  • GARD:6457,
  • NCI:C84715,
  • UMLS_CUI:C0016395,
  • MESH:D005489,
  • 305600,
  • Goltz syndrome,
  • SNOMEDCT_US_2023_03_01:205573006,
  • FDH,
  • ORDO:2092
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents