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Disease Ontology Browser
Lenz-Majewski hyperostotic dwarfism (DOID:0111507)
Alliance: disease page
Synonyms: Lenz-Majewski syndrome
Alt IDs: OMIM:151050, MESH:C537115, ORDO:2658, UMLS_CUI:C0432269
Definition: A syndrome characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial, dental, cutaneous and distal-limb anomalies that has_material_basis_in heterozygous mutation in the PTDSS1 gene on chromosome 8q22.1.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory