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Autosomal Dominant Osteopetrosis 1 (MONDO:0011877)

Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.

Overview

Category

musculoskeletal system disorder

Ontology ID

MONDO:0011877

Internal:12955

Synonyms

LRP5 osteopetrosis (disease)

OPTA1

autosomal dominant osteopetrosis type 1

osteopetrosis (disease) caused by mutation in LRP5

osteopetrosis, autosomal dominant type 1

osteopetrosis autosomal dominant type 1

osteopetrosis, autosomal dominant 1

osteopetrosis, autosomal dominant, type 1

Mapped terms

DOID:0110937

GARD:0004151

MEDGEN:335932

MESH:C536056

OMIM:607634

Orphanet:2783

UMLS:C1843330

Child terms

Unknown children.

Results

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