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IFT140-related recessive ciliopathy

Go to external page http://purl.obolibrary.org/obo/MONDO_0100509

Any ciliopathy in which the cause of the disease is biallelic variants in the IFT140 gene. [ http://www.ncbi.nlm.nih.gov/pubmed/22503633 http://www.ncbi.nlm.nih.gov/pubmed/26359340 http://www.ncbi.nlm.nih.gov/pubmed/23418020 ]

Synonyms: IFT140-related recessive ciliopathy

This is just here as a test because I lose it

Term information

Subsets

rare, inferred_rare, clingen

creator

https://orcid.org/0000-0001-5208-3432

has narrow synonym

retinitis pigmentosa 80

short-rib thoracic dysplasia 9 with or without polydactyly

id

MONDO:0100509

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0100509

Term relations

Subclass of: