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DO Term : infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly [DOID:0111262] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A brain disease characterized by cerebral and cerebellar atrophy, postnatal progressive microcephaly and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in MED17 on 11q21.
  • synonyms:
  • GARD:10995,
  • OMIM:613668,
  • postnatal progressive microcephaly, seizures, and brain atrophy,
  • ORDO:402364,
  • 613668
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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