FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Lenz-Majewski hyperostotic dwarfism ID (Ontology) DOID:0111507 (Human Disease)
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.
Also Known As "Lenz-Majewski syndrome"
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 Genes
 Lenz-Majewski hyperostotic dwarfism       1
 for disease ribbon | Lenz-Majewski hyperostotic dwarfism       1
 model of | Lenz-Majewski hyperostotic dwarfism       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                Lenz-Majewski hyperostotic dwarfism  1 rec.
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Is a autosomal dominant disease
syndrome
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Synonyms
  • "Lenz-Majewski syndrome" EXACT
Secondary IDs
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GARD:3223
MESH:C537115
MIM:151050
ORDO:2658
SNOMEDCT_US_2023_03_01:1393001
UMLS_CUI:C0432269