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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:
MESH:C562515,
SNOMEDCT_US_2023_03_01:17608003,
CHILD nevus,
OMIM:308050,
congenital hemidysplasia with ichthyosiform nevus and limbs defects,
ORDO:139,
GARD:6039,
308050,
UMLS_CUI:C0265267

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

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