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DO Term : Simpson-Golabi-Behmel syndrome type 2 [DOID:0080342] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A syndrome that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22 and is characterized by developmental delay, macrocephaly, and respiratory problems.

synonyms:
OMIM:300209,
300209

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

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