Temtamy preaxial brachydactyly syndrome

Preferred Label : Temtamy preaxial brachydactyly syndrome;

Symbol : TPBS;

CISMeF acronym : TPBS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Preaxial brachydactyly syndrome, temtamy type;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the carbohydrate synthase 1 gene (CHSY1, 608123.0001);

Prefixed ID : #605282;

Details

Origin ID

605282;

UMLS CUI

C1854466;

Currated CISMeF NLP mapping
- Temtamy preaxial brachydactyly syndrome [ORDO Disease]
- Temtamy preaxial brachydactyly syndrome [MeSH concept]
- Temtamy preaxial brachydactyly syndrome (disorder) [SNOMED CT concept]
- temtamy preaxial brachydactyly syndrome [DO Concept]
- temtamy preaxial brachydactyly syndrome [MeSH Supplementary Concept]
DO Cross reference
- temtamy preaxial brachydactyly syndrome [DO Concept]
Genes related to phenotype
- Chondroitin sulfate synthase 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bilateral sensorineural hearing impairment [HPO term]
- Blue sclerae [HPO term]
- Brachydactyly [HPO term]
- Carpal synostosis [HPO term]
- Cleft palate [HPO term]
- Clinodactyly [HPO term]
- Deep philtrum [HPO term]
- Diastema [HPO term]
- Global developmental delay [HPO term]
- Highly arched eyebrow [HPO term]
- Hitchhiker thumb [HPO term]
- Hypertelorism [HPO term]
- Microdontia [HPO term]
- Optic atrophy [HPO term]
- Plagiocephaly [HPO term]
- Radioulnar synostosis [HPO term]
- Short metacarpal [HPO term]
- Short metatarsal [HPO term]
- Syndactyly [HPO term]
- Synophrys [HPO term]
- Talon cusp [HPO term]
- Tarsal synostosis [HPO term]
ORDO concept(s)
- Temtamy preaxial brachydactyly syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Temtamy preaxial brachydactyly syndrome [MeSH concept]
- Temtamy preaxial brachydactyly syndrome [ORDO Disease]
- Temtamy preaxial brachydactyly syndrome (disorder) [SNOMED CT concept]
- temtamy preaxial brachydactyly syndrome [MeSH Supplementary Concept]
- temtamy preaxial brachydactyly syndrome [DO Concept]

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