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Human Disease

autosomal recessive osteopetrosis 1

Term ID
DOID:0110942
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
Ontology
Human Disease   ( DOID:0110942 )
Relationships
is a type of
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Genes Involved
Zebrafish Models
Citations