Spondyloepiphyseal Dysplasia Maroteaux Type
Disease ID: disease_node_15687
Connections displayed (default: 10).
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| Dbxref | GARD:994, MIM:184095, ORDO:263482, SNOMEDCT_US_2023_03_01:719204007, UMLS_CUI:C3159322 |
|---|---|
| Subclassof | DOID_0050736, DOID_0112280 |
| Data Source | DOID |
| Synonyms | Brachyolmia Type 2, Pseudo-Morquio syndrome type 2, SED, Maroteaux type, spondyloepiphyseal dysplasia of Maroteaux |
| Doid Label | spondyloepiphyseal dysplasia Maroteaux type |
| Doid Description | An osteochondrodysplasia characterized by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, platyspondyly, severe brachydactyly, and pelvic abnormalities that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_15687 |
| Doid Id | DOID_0111553 |
| Label | Spondyloepiphyseal Dysplasia Maroteaux Type |
- Outgoing r'ship
SUBCLASS_OFto/from Spondyloepiphyseal Dysplasia(ID:disease_node_15684) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)