Mercaptolactate-cysteine disulfiduria

Preferred Label : Mercaptolactate-cysteine disulfiduria;

Symbol : MCDU;

CISMeF acronym : MCDU;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Disulfiduria, mixed;

Inheritance : Autosomal recessive;

Prefixed ID : %249650;

Details

Origin ID

249650;

UMLS CUI

C0796055;

Currated CISMeF NLP mapping
- Beta-mercaptolactate cysteine disulfiduria [ORDO Disease]
- Beta-mercaptolactate cysteine disulfiduria (disorder) [SNOMED CT concept]
- Deficiency of 3-mercaptopyruvate sulfurtransferase (disorder) [SNOMED CT concept]
- Mercaptolactate-Cysteine disulfiduria [MeSH concept]
- Mercaptolactate-Cysteine disulfiduria [MeSH Supplementary Concept]
HPO term(s)
- Aminoaciduria [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Depressed nasal bridge [HPO term]
- Flattened nasal bridge [HPO term]
- High palate [HPO term]
- High, narrow palate [HPO term]
- High-arched palate [HPO term]
- Hypokinesia [HPO term]
- Intellectual disability [HPO term]
ORDO concept(s)
- Beta-mercaptolactate cysteine disulfiduria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Beta-mercaptolactate cysteine disulfiduria [ORDO Disease]
- Beta-mercaptolactate cysteine disulfiduria (disorder) [SNOMED CT concept]
- Mercaptolactate-Cysteine disulfiduria [MeSH Supplementary Concept]
- Mercaptolactate-Cysteine disulfiduria [MeSH concept]

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