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DO Term : primary autosomal recessive microcephaly [DOID:0070296] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal recessive mutation.
  • synonyms:
  • GARD:12117,
  • MCPH,
  • PS251200,
  • ORDO:2512,
  • OMIM:PS251200
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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