ZFIN Human Disease: Ehlers-Danlos syndrome classic type 1

OBO ID: DOID:14720

Term Name:	Ehlers-Danlos syndrome classic type 1		Search Ontology:
Synonyms:	Ehlers-Danlos syndrome, type 1 type I Ehlers-Danlos syndrome
Definition:	An Ehlers-Danlos syndrome that is characterized by loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars and that has_material_basis_in heterozygous mutation in the collagen alpha-1(V) gene (COL5A1) on chromosome 9q34. https://pubmed.ncbi.nlm.nih.gov/28306229/
References:	MESH:C536194 NCI:C125696 OMIM:130000 SNOMEDCT_US_2023_03_01:83470009 UMLS_CUI:C0268335
Ontology:	Human Disease ( DOID:14720 )

Relationships

is a type of:	autosomal dominant disease Ehlers-Danlos syndrome autosomal dominant disease Ehlers-Danlos syndrome Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
COL5A1	col5a1	Ehlers-Danlos syndrome, classic type, 1	130000

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None