Polydactyly, preaxial II

Preferred Label : Polydactyly, preaxial II;

Symbol : PPD2;

CISMeF acronym : PPD2; TPT;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Polydactyly of triphalangeal thumb; Triphalangeal thumb-polydactyly syndrome;

Included titles and symbols : Triphalangeal thumb; TPT;

Inheritance : Autosomal dominant;

Prefixed ID : #174500;

Détails

Origin ID

174500;

UMLS CUI

C1868114;

Automatic exact mappings (from CISMeF team)
- 9 alpha,11 alpha,15 alpha-trihydroxy-16-phenoxy-17,18,19,20-tetranorprosta-4,5,13-trienoic acid [MeSH Supplementary Concept]
- Other congenital malformations of upper limb(s), including shoulder girdle [ICD-10 Sub-category]
- Planned Time Point Name [NCIt concept]
- SHH wt Allele [NCIt concept]
- Triphalangeal thumb [HPO term]
- Triphalangeal thumb [ICD-11 Category]
- Triphalangeal thumb (disorder) [SNOMED CT concept]
- activated thromboplastin time [Blood Transfusion thesaurus concept]
- decaprenyl diphosphate synthase subunit 1 [ORDO Gene]
- sonic hedgehog signaling molecule [ORDO Gene]
- triose-phosphate:phosphate antiporter activity [GO term]
- triphalangeal thumb [MeSH concept]
- triphalangeal thumb [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Polydactyly of a triphalangeal thumb [ICD-11 More detail]
- Polydactyly of a triphalangeal thumb [ORDO Disease]
- Polydactyly of triphalangeal thumb (disorder) [SNOMED CT concept]
- Triphalangeal thumb - polysyndactyly syndrome [ICD-11 More detail]
- Triphalangeal thumb-polysyndactyly syndrome [ORDO Disease]
- patterson stevenson syndrome [MeSH Supplementary Concept]
DO Cross reference
- polydactyly [DO Concept]
Genes related to phenotype
- Zone of polarizing activity regulatory sequence [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Complete duplication of distal phalanx of the thumb [HPO term]
- Duplication of phalanx of hallux [HPO term]
- Duplication of thumb phalanx [HPO term]
- Opposable triphalangeal thumb [HPO term]
- Postaxial foot polydactyly [HPO term]
- Postaxial hand polydactyly [HPO term]
- Preaxial foot polydactyly [HPO term]
- Preaxial hand polydactyly [HPO term]
- Syndactyly [HPO term]
ORDO concept(s)
- Polydactyly of a triphalangeal thumb [ORDO Disease]
- Triphalangeal thumb-polysyndactyly syndrome [ORDO Disease]
See also inter- (CISMeF)
- triphalangeal thumb polysyndactyly syndrome [Disease (Nov.)]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Patterson Stevenson Fontaine syndrome (disorder) [SNOMED CT concept]
- Polydactyly of a triphalangeal thumb [ORDO Disease]
- Polydactyly of a triphalangeal thumb [ICD-11 More detail]
- Polydactyly of triphalangeal thumb (disorder) [SNOMED CT concept]
- Triphalangeal thumb - polysyndactyly syndrome [ICD-11 More detail]
- Triphalangeal thumb and polysyndactyly syndrome (disorder) [SNOMED CT concept]
- patterson stevenson syndrome [MeSH Supplementary Concept]
- triphalangeal thumb polysyndactyly syndrome [Disease (Nov.)]

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

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