Trichorhinophalangeal Syndrome Type I

Preferred Label : Trichorhinophalangeal Syndrome Type I;

NCIt definition : A rare autosomal dominant syndrome caused by mutations in the TRPS1 gene. It is characterized by distinctive facial appearance (sparse hair, pear-shaped nose, and elongated philtrum), skeletal abnormalities (cone-shaped epiphyses, hip malformation), short stature, and mild growth retardation.;

Details

Origin ID

C75109;

UMLS CUI

C0432233;

Automatic exact mappings (from CISMeF team)
- trichorhinophalangeal syndrome type I [DO Concept]
Currated CISMeF NLP mapping
- Trichorhinophalangeal Syndrome, Type I [MeSH Supplementary Concept]
- Trichorhinophalangeal Syndrome, Type I [MeSH concept]
- Trichorhinophalangeal dysplasia type I (disorder) [SNOMED CT concept]
- Trichorhinophalangeal syndrome, type I [OMIM Phenotype]
- trichorhinophalangeal syndrome 1 [Disease (Nov.)]
DO Cross reference
- trichorhinophalangeal syndrome type I [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Trichorhinophalangeal Syndrome, Type I [MeSH concept]
- Trichorhinophalangeal Syndrome, Type I [MeSH Supplementary Concept]
- Trichorhinophalangeal dysplasia type I (disorder) [SNOMED CT concept]
- Trichorhinophalangeal syndrome, type I [OMIM Phenotype]
- trichorhinophalangeal syndrome 1 [Disease (Nov.)]
- trichorhinophalangeal syndrome type I [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 8 [NCIt concept]
disease_mapped_to_gene
- TRPS1 Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- TRPS1 Gene [NCIt concept]
- TRPS1 wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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