Search Ontology:
Human Disease
autosomal recessive osteopetrosis 7
- Term ID
- DOID:0110946
- Synonyms
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- autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia
- autosomal recessive osteopetrosis type 7
- OPTB7
- osteoclast-poor osteopetrosis with hypogammaglobulinemia
- osteopetrosis-hypogammaglobulinemia syndrome
- Definition
- An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21. https://www.ncbi.nlm.nih.gov/pubmed/18606301
- References
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- GARD:10106
- ICD10CM:Q78.2
- MIM:612301
- ORDO:178389
- Ontology
- Human Disease ( DOID:0110946 )
- is a type of
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Genes Involved
Zebrafish Models