ZFIN Human Disease: autosomal recessive osteopetrosis 4

OBO ID: DOID:0110944

Term Name:	autosomal recessive osteopetrosis 4		Search Ontology:
Synonyms:	infantile malignant osteopetrosis 2 OPTB4
Definition:	An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13. https://www.ncbi.nlm.nih.gov/pubmed/11207362
References:	GARD:5993 OMIM:611490
Ontology:	Human Disease ( DOID:0110944 )

Relationships

is a type of:	autosomal recessive disease osteopetrosis autosomal recessive disease osteopetrosis Show first 5 Terms

OTHER autosomal recessive osteopetrosis 4 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CLCN7	clcn7	Osteopetrosis, autosomal recessive 4	611490

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None