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Lenz-Majewski hyperostotic dwarfism
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0111507
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P48651 | Phosphatidylserine synthase 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0007495 | Prematurely aged appearance |
| HP:0008065 | Aplasia/Hypoplasia of the skin |
| HP:0009773 | Symphalangism affecting the phalanges of the hand |
| HP:0010628 | Facial palsy |
| HP:0011001 | Increased bone mineral density |
| HP:0011002 | Osteopetrosis |
| HP:0012471 | Thick vermilion border |
| HP:0100541 | Femoral hernia |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000041 | Chordee |
