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Metadata
ID	DOID:0111507
Name	Lenz-Majewski hyperostotic dwarfism
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
Xrefs	GARD:3223 MESH:C537115 MIM:151050 ORDO:2658 SNOMEDCT_US_2023_03_01:1393001 UMLS_CUI:C0432269
Subsets	DO_rare_slim
Synonyms	Lenz-Majewski syndrome [EXACT]
Parent Relationships	is_a syndrome is_a autosomal dominant disease