Disease #00070 (CHH (cartilage-hair hypoplasia (CHH)), OMIM:250250)

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Official abbreviation	CHH
Name	cartilage-hair hypoplasia (CHH)
OMIM ID	250250
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	RMRP
Associated tissues	-
Disease features	-
Remarks	-
Date created	2012-11-05 09:31:55 +01:00 (CET)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

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