Transaldolase deficiency

Preferred Label : Transaldolase deficiency;

Symbol : TALDOD;

CISMeF acronym : TALDOD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Taldo deficiency; Eyaid syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the transaldolase-1 gene (TALDO1, 602063.0001);

Prefixed ID : #606003;

Details

Origin ID

606003;

UMLS CUI

C1291329;

Currated CISMeF NLP mapping
- Deficiency of transaldolase (disorder) [SNOMED CT concept]
- Transaldolase deficiency [ICD-11 More detail]
- Transaldolase deficiency [ORDO Disease]
- transaldolase deficiency [MeSH concept]
- transaldolase deficiency [MeSH Supplementary Concept]
Genes related to phenotype
- Transaldolase 1 [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Asthma [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cirrhosis [HPO term]
- Clitoral hypertrophy [HPO term]
- Coarctation of aorta [HPO term]
- Decreased liver function [HPO term]
- Deep philtrum [HPO term]
- Depressed nasal bridge [HPO term]
- Failure to thrive [HPO term]
- Hepatic fibrosis [HPO term]
- Hepatomegaly [HPO term]
- Hepatosplenomegaly [HPO term]
- Intrauterine growth retardation [HPO term]
- Low-set ears [HPO term]
- Micronodular cirrhosis [HPO term]
- Oligohydramnios [HPO term]
- Pancytopenia [HPO term]
- Patent ductus arteriosus [HPO term]
- Patent foramen ovale [HPO term]
- Poor suck [HPO term]
- Short neck [HPO term]
- Short philtrum [HPO term]
- Small for gestational age [HPO term]
- Splenomegaly [HPO term]
- Synophrys [HPO term]
- Telangiectasia [HPO term]
- Thin vermilion border [HPO term]
- Thrombocytopenia [HPO term]
- Triangular face [HPO term]
- Ventricular septal defect [HPO term]
- Wide anterior fontanel [HPO term]
- Wide mouth [HPO term]
ORDO concept(s)
- Transaldolase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of transaldolase (disorder) [SNOMED CT concept]
- Transaldolase deficiency [ORDO Disease]
- Transaldolase deficiency [ICD-11 More detail]
- transaldolase deficiency [MeSH Supplementary Concept]
- transaldolase deficiency [MeSH concept]

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