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DO Term : primary autosomal recessive microcephaly 30 [DOID:0051041] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A primary autosomal recessive microcephaly that is characterized by small head circumference, poor overall growth, and global developmental delay with variably impaired intellectual development and that has_material_basis_in homozygous or compound heterozygous mutation in the BUB1 gene on chromosome 2q13.
  • synonyms:
  • OMIM:620183,
  • 620183
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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