Tibia, hypoplasia or aplasia of, with polydactyly

Preferred Label : Tibia, hypoplasia or aplasia of, with polydactyly;

Symbol : THYP;

CISMeF acronym : THYP;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Tibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimelia;

Inheritance : Autosomal dominant;

Prefixed ID : #188740;

Details

Origin ID

188740;

UMLS CUI

C1861098;

Automatic exact mappings (from CISMeF team)
- Absence of tibia with polydactyly [MeSH concept]
Currated CISMeF NLP mapping
- Hypoplastic tibiae-postaxial polydactyly syndrome [ORDO Disease]
- Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome [ORDO Disease]
- absence of tibia with polydactyly [MeSH Supplementary Concept]
- hypoplastic or aplastic tibia with polydactyly [DO Concept]
- tibia, hypoplasia of, with polydactyly [MeSH Supplementary Concept]
DO Cross reference
- hypoplastic or aplastic tibia with polydactyly [DO Concept]
Genes related to phenotype
- Zone of polarizing activity regulatory sequence [OMIM gene]
HPO term(s)
- Absent tibia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Congenital onset [HPO term]
- Fibular duplication [HPO term]
- Preaxial polydactyly [HPO term]
- Short tibia [HPO term]
- Triphalangeal thumb [HPO term]
ORDO concept(s)
- Hypoplastic tibiae-postaxial polydactyly syndrome [ORDO Disease]
- Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome [ORDO Disease]
See also inter- (CISMeF)
- Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypoplastic tibiae-postaxial polydactyly syndrome [ORDO Disease]
- tibia, hypoplasia of, with polydactyly [MeSH concept]
- tibia, hypoplasia of, with polydactyly [MeSH Supplementary Concept]

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