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DO Term : geleophysic dysplasia 2 [DOID:0111726] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A geleophysic dysplasia that has_material_basis_in heterozygous mutation in exon 41 or 42 of the FBN1 gene on chromosome 15q21.1.

synonyms:
GPHYSD2,
614185,
OMIM:614185

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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