loading...| Preferred Name |
Lenz-Majewski hyperostotic dwarfism |
| Synonyms |
Lenz-Majewski syndrome |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/DOID_0111507 |
| database_cross_reference |
SNOMEDCT_US_2022_09_01:1393001 OMIM:151050 MESH:C537115 ORDO:2658 GARD:3223 UMLS_CUI:C0432269 |
| 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. |
| has exact synonym |
Lenz-Majewski syndrome |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0111507 |
| in_subset | |
| label |
Lenz-Majewski hyperostotic dwarfism |
| notation |
DOID:0111507 |
| prefLabel |
Lenz-Majewski hyperostotic dwarfism |
| subClassOf |