FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term autosomal dominant osteopetrosis 1 ID (Ontology) DOID:0110937 (Human Disease)
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.
Also Known As "autosomal dominant osteopetrosis type 1" ; "OPTA1"
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 Genes
 autosomal dominant osteopetrosis 1       2
 for disease ribbon | autosomal dominant osteopetrosis 1       2
 model of | autosomal dominant osteopetrosis 1       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
osteosclerosis                  |
 |__osteopetrosis_______________|
                                autosomal dominant osteopetrosis 1  2 rec.
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Is a autosomal dominant disease
osteopetrosis
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Synonyms
  • "autosomal dominant osteopetrosis type 1" EXACT
    "OPTA1" EXACT OMO:0003012
Secondary IDs
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MESH:C536056
MIM:607634
ORDO:2783
UMLS_CUI:C1843330