Trichorhinophalangeal syndrome, type III

Preferred Label : Trichorhinophalangeal syndrome, type III;

Symbol : TRPS3;

CISMeF acronym : TRPS3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Sugio-kajii syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the zinc finger transcription factor TRPS1 gene (TRPS1, 604386.0007);

Prefixed ID : #190351;

Détails

Origin ID

190351;

UMLS CUI

C1860823;

Automatic exact mappings (from CISMeF team)
- trichorhinophalangeal syndrome type III [DO Concept]
Broader ORDO disease(s)
- Trichorhinophalangeal syndrome type 1 and 3 [ORDO Disease]
Currated CISMeF NLP mapping
- Trichorhinophalangeal syndrome type 1 and 3 [ORDO Disease]
- trichorhinophalangeal syndrome, type III [MeSH concept]
- trichorhinophalangeal syndrome, type III [MeSH Supplementary Concept]
DO Cross reference
- trichorhinophalangeal syndrome type III [DO Concept]
Genes related to phenotype
- Transcriptional repressor, gata-binding 1 [OMIM gene]
HPO term(s)
- Abnormality of the nervous system [HPO term]
- Accelerated bone age after puberty [HPO term]
- Autosomal dominant inheritance [HPO term]
- Avascular necrosis of the capital femoral epiphysis [HPO term]
- Brachydactyly [HPO term]
- Cone-shaped epiphyses of the middle phalanges of the hand [HPO term]
- Coxa magna [HPO term]
- Delayed skeletal maturation [HPO term]
- Dental crowding [HPO term]
- Long philtrum [HPO term]
- Long, flat philtrum [HPO term]
- Mild osteopenia [HPO term]
- Osteopenia [HPO term]
- Pear-shaped nose [HPO term]
- Protruding ear [HPO term]
- Scoliosis [HPO term]
- Severe brachydactyly [HPO term]
- Short feet [HPO term]
- Short finger [HPO term]
- Short foot [HPO term]
- Short metacarpal [HPO term]
- Short metatarsal [HPO term]
- Short palm [HPO term]
- Short phalanx of finger [HPO term]
- Short stature [HPO term]
- Smooth philtrum [HPO term]
- Sparse hair [HPO term]
- Sparse lateral eyebrow [HPO term]
- Supernumerary tooth [HPO term]
- Thin upper lip vermilion [HPO term]
- Underdeveloped nasal alae [HPO term]
Manual NTBT mappings (CISMeF)
- Trichorhinophalangeal syndrome type 1 and 3 [ICD-11 More detail]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Trichorhinophalangeal syndrome type 1 and 3 [ORDO Disease]
See also inter- (CISMeF)
- langer-giedion syndrome [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Trichorhinophalangeal syndrome type 1 and 3 [ORDO Disease]
- trichorhinophalangeal syndrome, type III [MeSH Supplementary Concept]
- trichorhinophalangeal syndrome, type III [MeSH concept]
Validated automatic mappings to NTBT
- Trichorhinophalangeal syndrome type 1 and 3 (disorder) [SNOMED CT concept]

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

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