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DO Term : linear skin defects with multiple congenital anomalies 2 [DOID:0111877] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A linear skin defects with multiple congenital anomalies characterized by linear skin defects, microcephaly, facial dysmorphism, and other congenital anomalies that has_material_basis_in heterozygous mutation in the COX7B gene on chromosome Xq21.1.

synonyms:
LSDMCA2,
APLCC,
aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies,
300887,
OMIM:300887

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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