Autosomal dominant osteopetrosis type 1

Definition

A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.

Disease data

Classification

Malformation syndrome

ORPHA code

2783

OMIM code

607634

ICD10 code

Q78.2

ICD11 code

LD24.10

*Soruce

No additional description.

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Description of the disease *