Search Ontology:
Human Disease

geleophysic dysplasia 1

Term ID
DOID:0111725
Synonyms
  • GPHYSD1
Definition
A geleophysic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL2 gene on chromosome 9q34.2. https://www.ncbi.nlm.nih.gov/pubmed/21683322
References
Ontology
Human Disease   ( DOID:0111725 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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