Brachyolmia-Amelogenesis Imperfecta Syndrome
Disease ID: disease_node_20255
Connections displayed (default: 10).
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| Dbxref | GARD:5478, ICD10CM:Q76.3, MIM:601216, ORDO:2899 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID |
| Synonyms | DASS, STHAG6, dental anomalies and short stature, platyspondyly with amelogenesis imperfecta, selective tooth agenesis 5 |
| Doid Label | brachyolmia-amelogenesis imperfecta syndrome |
| Doid Description | A syndrome characterized by skeletal dysplasia (broad ilia, elongated femoral necks with coxa valga, scoliosis), mild platyspondyly, short trunked short stature, and amelogenesis imperfecta that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the latent transforming growth factor beta binding protein 3 gene (LTBP3) on chromosome 11q13. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20255 |
| Doid Id | DOID_0090143 |
| Label | Brachyolmia-Amelogenesis Imperfecta Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)