Trichorhinophalangeal syndrome, type II

Preferred Label : Trichorhinophalangeal syndrome, type II;

Symbol : TRPS2;

CISMeF acronym : LGS; TRPS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Langer-giedion syndrome; Chromosome 8q24.1 deletion syndrome; LGS;

Inheritance : Autosomal dominant;

Molecular basis : A contiguous gene syndrome caused by mutations in the zinc finger transcription factor TRPS1 (TRPS1, 604386) and the exostosin 1 gene (EXT1, 133700);

Laboratory abnormalities : Chromosome deletion extending from 8q24.11 to 8q24.13;

Prefixed ID : #150230;

Details

Origin ID

150230;

UMLS CUI

C0023003;

Automatic exact mappings (from CISMeF team)
- EXT1 wt Allele [NCIt concept]
- Lennox-Gastaut Syndrome [NCIt concept]
- Liter per Gram per Second [NCIt concept]
Currated CISMeF NLP mapping
- Langer Giedion syndrome [Disease (Nov.)]
- Langer-Giedion syndrome [ICD-11 Sub-sub category]
- Langer-Giedion syndrome [MedDRA Preferred Term]
- Langer-Giedion syndrome [MeSH concept]
- Langer-Giedion syndrome (disorder) [SNOMED CT concept]
- Trichorhinophalangeal Syndrome Type II [NCIt concept]
- Trichorhinophalangeal syndrome type 2 [ORDO Disease]
- langer-giedion syndrome [MeSH Descriptor]
- langer-giedion syndrome [SNOMED Notion]
- trichorhinophalangeal syndrome 2 [Disease (Nov.)]
- trichorhinophalangeal syndrome type II [DO Concept]
DO Cross reference
- trichorhinophalangeal syndrome type II [DO Concept]
False automatic mappings
- BCL9 wt Allele [NCIt concept]
- Latvia [NCIt concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Avascular necrosis of the capital femoral epiphysis [HPO term]
- Bulbous nose [HPO term]
- Cone-shaped epiphyses of the phalanges of the hand [HPO term]
- Deep philtrum [HPO term]
- Deeply set eye [HPO term]
- Delayed speech and language development [HPO term]
- Exotropia [HPO term]
- Fragile nails [HPO term]
- Generalized hypotonia [HPO term]
- Hearing impairment [HPO term]
- Hydrometrocolpos [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Joint hypermobility [HPO term]
- Large, protruding ears [HPO term]
- Macrotia [HPO term]
- Microcephaly [HPO term]
- Mild postnatal growth retardation [HPO term]
- Multiple long-bone exostoses [HPO term]
- Nevus [HPO term]
- Postnatal onset of mild growth retardation [HPO term]
- Prominent philtrum [HPO term]
- Recurrent upper respiratory tract infections [HPO term]
- Redundant skin in infancy [HPO term]
- Rib exostoses [HPO term]
- Scapular exostoses [HPO term]
- Scapular winging [HPO term]
- Scoliosis [HPO term]
- Sparse scalp hair [HPO term]
- Speech delay [HPO term]
- Syndactyly [HPO term]
- Vesicoureteral reflux [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Trichorhinophalangeal syndrome type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Langer Giedion syndrome [Disease (Nov.)]
- Langer-Giedion syndrome [MedDRA Preferred Term]
- Langer-Giedion syndrome [MeSH concept]
- Langer-Giedion syndrome [ICD-11 Sub-sub category]
- Langer-Giedion syndrome (disorder) [SNOMED CT concept]
- Trichorhinophalangeal Syndrome Type II [NCIt concept]
- Trichorhinophalangeal syndrome type 2 [ORDO Disease]
- langer-giedion syndrome [SNOMED Notion]
- langer-giedion syndrome [MeSH Descriptor]
- trichorhinophalangeal syndrome 2 [Disease (Nov.)]
- trichorhinophalangeal syndrome type II [DO Concept]

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