Disease #00236 (EDSCL1 (EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1), OMIM:130000)

MVZ für Humangenetik Regensburg

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Official abbreviation	EDSCL1
Name	EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
OMIM ID	130000
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	COL5A1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2025-12-09 12:35:39 +00:00 (UTC)
Date last edited	N/A