Asphyxiating Thoracic Dystrophy 3
Disease ID: disease_node_15733
Connections displayed (default: 10).
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| Dbxref | ICD10CM:Q77.2, MIM:613091 |
|---|---|
| Subclassof | DOID_0050737, DOID_0050592 |
| Data Source | DOID |
| Synonyms | ATD3, SRPS1, SRPS2B, SRPS3, SRTD3, Saldino-Noonan syndrome, Verma-Naumoff syndrome, polydactyly with neonatal chondrodystrophy, type I, polydactyly with neonatal chondrodystrophy, type III, short rib-polydactyly syndrome, type I, short rib-polydactyly syndrome, type IIB, short-rib thoracic dysplasia 3 with or without polydactyly |
| Doid Label | asphyxiating thoracic dystrophy 3 |
| Doid Description | An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15733 |
| Doid Id | DOID_0110087 |
| Label | Asphyxiating Thoracic Dystrophy 3 |
| Doid Alternate Ids | DOID_0050549 |
- Outgoing r'ship
SUBCLASS_OFto/from Asphyxiating Thoracic Dystrophy(ID:disease_node_15722) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)