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DO Term : CHILD syndrome [DOID:0111822] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndrome characterized by congenital hemidysplasia, ichythyosiform erythrodema, and limb defects that has_material_basis_in heterozygous mutation in the NSDHL gene on chromosome Xq28.
  • synonyms:
  • congenital hemidysplasia with ichthyosiform nevus and limbs defects,
  • SNOMEDCT_US_2023_03_01:17608003,
  • CHILD nevus,
  • OMIM:308050,
  • MESH:C562515,
  • GARD:6039,
  • 308050,
  • ORDO:139,
  • UMLS_CUI:C0265267
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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