ZFIN Human Disease: autosomal recessive osteopetrosis 5

OBO ID: DOID:0110939

Term Name:	autosomal recessive osteopetrosis 5		Search Ontology:
Synonyms:	infantile malignant osteopetrosis 3 OPTB5
Definition:	An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the OSTM1 gene on chromosome 6q21. https://www.ncbi.nlm.nih.gov/pubmed/12627228
References:	GARD:4153 OMIM:259720
Ontology:	Human Disease ( DOID:0110939 )

Relationships

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

OTHER autosomal recessive osteopetrosis 5 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
OSTM1	ostm1	Osteopetrosis, autosomal recessive 5	259720

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None