Search Ontology:
Human Disease
short-rib thoracic dysplasia 13 with or without polydactyly
- Term ID
- DOID:0110093
- Synonyms
-
- SRTD13
- Definition
- An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the CEP120 gene on chromosome 5q23. https://www.ncbi.nlm.nih.gov/pubmed/25361962
- References
-
- ICD10CM:Q77.2
- MIM:616300
- Ontology
- Human Disease ( DOID:0110093 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models