ZFIN Human Disease: autosomal recessive osteopetrosis 1

OBO ID: DOID:0110942

Term Name:	autosomal recessive osteopetrosis 1		Search Ontology:
Synonyms:	autosomal recessive Albers-Schonberg disease infantile malignant osteopetrosis 1 OPTB1
Definition:	An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TCIRG1 gene on chromosome 11q13.2. https://www.ncbi.nlm.nih.gov/pubmed/10888887
References:	GARD:2579 OMIM:259700
Ontology:	Human Disease ( DOID:0110942 )

Relationships

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

OTHER autosomal recessive osteopetrosis 1 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TCIRG1	tcirg1a tcirg1b	Osteopetrosis, autosomal recessive 1	259700

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None