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DO Term : linear skin defects with multiple congenital anomalies 3 [DOID:0111876] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A linear skin defects with multiple congenital anomalies characterized by linear skin defects, cardiomyopathy, and various other congenital anomalies that has_material_basis_in heterozygous mutation in the NDUFB11 gene on chromosome Xp11.3.
  • synonyms:
  • LSDMCA3,
  • linear skin defects with cardiomyopathy and other congenital anomalies,
  • OMIM:300952,
  • 300952
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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