Disease #03136 (BCARD (bone fragility with contractures, arterial rupture, and deafnes (LH3 deficiency)), OMIM:612394)

Official abbreviation	BCARD
Name	bone fragility with contractures, arterial rupture, and deafnes (LH3 deficiency)
OMIM ID	612394
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	PLOD3
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2024-02-13 13:56:57 +01:00 (CET)

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Global Variome shared LOVD