Lenz-Majewski hyperostotic dwarfism

Term ID

DOID:0111507

Synonyms

• Lenz-Majewski syndrome

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. https://www.ncbi.nlm.nih.gov/pubmed/24241535

References

• GARD:3223
• MESH:C537115
• MIM:151050
• ORDO:2658
• SNOMEDCT_US_2023_03_01:1393001
• UMLS_CUI:C0432269

Ontology

Human Disease   ( DOID:0111507 )