Clubfoot, Congenital, with or without Deficiency of Long Bones and/or Mirror-Image Polydactyly

Preferred Label : Clubfoot, Congenital, with or without Deficiency of Long Bones and/or Mirror-Image Polydactyly;

NCIt synonyms : Familial Clubfoot due to PITX1 Point Mutation;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the PITX1 gene, encoding pituitary homeobox 1. It is characterized by clubfoot, and may have associated long bone deformity and/or polydactyly.;

NCI Metathesaurus CUI : CL1792798;

Détails

Origin ID

C188148;

UMLS CUI

C5679943;

Currated CISMeF NLP mapping
- Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly [OMIM Phenotype]
- Familial clubfoot due to PITX1 point mutation [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- PITX1 Gene [NCIt concept]

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