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DO Term : microcephaly and chorioretinopathy 3 [DOID:0080107] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndrome that is characterized by congenital microcephaly and chorioretinal dysplasia associated with poor vision and nystagmus and has_material_basis_in compound heterozygous mutation in the TUBGCP4 gene.
  • synonyms:
  • OMIM:616335,
  • 616335
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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