OBO ID: DOID:0110093
Term Name: short-rib thoracic dysplasia 13 with or without polydactyly Search Ontology:
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
is a type of:
OTHER short-rib thoracic dysplasia 13 with or without polydactyly PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CEP120 Short-rib thoracic dysplasia 13 with or without polydactyly 616300
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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