Tarsal-carpal coalition syndrome

Preferred Label : Tarsal-carpal coalition syndrome;

Symbol : TCC;

CISMeF acronym : TCC;

Type : Phenotype, molecular basis known;

Included titles and symbols : Synostosis of talus and calcaneus with short stature;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the homolog of the mouse Noggin gene (NOG, 602991.0006);

Prefixed ID : #186570;

Détails

Origin ID

186570;

UMLS CUI

C1861305;

Automatic exact mappings (from CISMeF team)
- Cognitive Behavioral Therapy [MeSH Descriptor]
- Membrane Attack Complex [NCIt concept]
- Triclocarban [NCIt concept]
- craniocerebral trauma [MeSH Descriptor]
- membrane attack complex [GO term]
- synostosis of talus and calcaneus with short stature [MeSH concept]
- synostosis of talus and calcaneus with short stature [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- NOG-Related-Symphalangism spectrum disorder [MeSH concept]
- NOG-Related-Symphalangism spectrum disorder [MeSH Supplementary Concept]
- Tarsal-carpal coalition syndrome [ICD-11 More detail]
- Tarsal-carpal coalition syndrome [ORDO Disease]
- Tarsal-carpal coalition syndrome (disorder) [SNOMED CT concept]
- synostoses, tarsal, carpal, and digital [MeSH Supplementary Concept]
- synostoses, tarsal, carpal, and digital [MeSH concept]
- tarsal-carpal coalition syndrome [DO Concept]
DO Cross reference
- tarsal-carpal coalition syndrome [DO Concept]
Genes related to phenotype
- Noggin [OMIM gene]
HPO term(s)
- Abnormality of body height [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Carpal synostosis [HPO term]
- Clinodactyly [HPO term]
- Congenital onset [HPO term]
- Cubitus valgus [HPO term]
- Distal symphalangism of hands [HPO term]
- Hearing abnormality [HPO term]
- Humeroradial synostosis [HPO term]
- Progressive fusion 2nd-5th pip joints [HPO term]
- Proximal symphalangism of hands [HPO term]
- Radial deviation of finger [HPO term]
- Short 1st metacarpal [HPO term]
- Short finger [HPO term]
- Tarsal synostosis [HPO term]
ORDO concept(s)
- Tarsal-carpal coalition syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- NOG-Related-Symphalangism spectrum disorder [MeSH Supplementary Concept]
- NOG-Related-Symphalangism spectrum disorder [MeSH concept]
- Tarsal-carpal coalition syndrome [ORDO Disease]
- Tarsal-carpal coalition syndrome (disorder) [SNOMED CT concept]
- tarsal-carpal coalition syndrome [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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