Search Ontology:
Human Disease
autosomal dominant osteopetrosis 1
- Term ID
- DOID:0110937
- Synonyms
-
- autosomal dominant osteopetrosis type 1
- OPTA1
- Definition
- An osteopetrosis characterized by autosomal dominant inheritance of generalized osteosclerosis that is most pronounced in the cranial vault, absence of increased fractures and has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13. (2)
- References
-
- MESH:C536056
- MIM:607634
- ORDO:2783
- UMLS_CUI:C1843330
- Ontology
- Human Disease ( DOID:0110937 )
- is a type of
-
- disjoint_from
-
Other Pages
Genes Involved
Zebrafish Models