Disease #07201 (SEMDLSL (spondyloepimetaphyseal dysplasia, Li-Shao-Li type), OMIM:621099)

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Official abbreviation	SEMDLSL
Name	spondyloepimetaphyseal dysplasia, Li-Shao-Li type
OMIM ID	621099
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	CTGF
Associated tissues	-
Disease features	-
Remarks	-
Date created	2025-11-20 10:45:13 +01:00 (CET)
Date last edited	N/A

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