OBO ID: DOID:0111726
Term Name: geleophysic dysplasia 2 Search Ontology:
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 geleophysic dysplasia 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FBN1 Geleophysic dysplasia 2 614185
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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