OBO ID: DOID:0080726
Term Name: Ehlers-Danlos syndrome classic type 2 Search Ontology:
Synonyms:
Definition: An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the collagen alpha-2(V) gene on chromosome 2q31 and that is characterized by the absence of widened atrophic scars. https://pubmed.ncbi.nlm.nih.gov/22696272/
References:
Ontology: Human Disease   ( DOID:0080726 )
Relationships
is a type of:
OTHER Ehlers-Danlos syndrome classic type 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COL5A2 Ehlers-Danlos syndrome, classic type, 2 130010
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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