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