About   Help   FAQ
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.

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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/19/2024
MGI 6.24 		The Jackson Laboratory