OBO ID: DOID:0080739
Term Name: Ehlers-Danlos syndrome spondylodysplastic type 3 Search Ontology:
Synonyms:
Definition: An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the zinc transporter gene SLC39A13 on chromosome 11p11 and that is characterized by short stature, hyperelastic skin and hypermobile joints, protuberant eyes with bluish sclerae, finely wrinkled palms, and characteristic radiologic features. https://pubmed.ncbi.nlm.nih.gov/18513683/
References:
Ontology: Human Disease   ( DOID:0080739 )
Relationships
is a type of:
OTHER Ehlers-Danlos syndrome spondylodysplastic type 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC39A13 Ehlers-Danlos syndrome, spondylodysplastic type, 3 612350
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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