Search Ontology:
Human Disease

geleophysic dysplasia 2

Term ID
DOID:0111726
Synonyms
  • GPHYSD2
Definition
A geleophysic dysplasia that has_material_basis_in heterozygous mutation in exon 41 or 42 of the FBN1 gene on chromosome 15q21.1. https://www.ncbi.nlm.nih.gov/pubmed/21683322
References
Ontology
Human Disease   ( DOID:0111726 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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