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
Ontology
Human Disease   ( DOID:0110093 )
Relationships
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Genes Involved
Zebrafish Models