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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 PTDSS1 on chromosome 8q22.1.


Contributing Projects:
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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last database update
09/27/2022
MGI 6.21
The Jackson Laboratory