OBO ID: DOID:0111507 |
Term Name: | Lenz-Majewski hyperostotic dwarfism | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:0111507 ) |
OTHER Lenz-Majewski hyperostotic dwarfism PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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