Search Ontology:
Human Disease
asphyxiating thoracic dystrophy 5
- Term ID
- DOID:0110089
- Synonyms
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- ATD5
- short-rib thoracic dysplasia 5 with or without polydactyly
- SRTD5
- Definition
- An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the WDR19 gene on chromosome 4p14. https://www.ncbi.nlm.nih.gov/pubmed/22019273
- References
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- ICD10CM:Q77.2
- MIM:614376
- Ontology
- Human Disease ( DOID:0110089 )
- is a type of
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