OBO ID: DOID:0111725
Term Name: geleophysic dysplasia 1 Search Ontology:
Synonyms:
  • GPHYSD1
Definition: A geleophysic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in ADAMTSL2 on chromosome 9q34.2. https://www.ncbi.nlm.nih.gov/pubmed/21683322
References:
Ontology: Human Disease   (DOID:0111725)
OTHER geleophysic dysplasia 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ADAMTSL2 Geleophysic dysplasia 1 231050
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None