Renal tubular acidosis, distal, 4, with hemolytic anemia

Preferred Label : Renal tubular acidosis, distal, 4, with hemolytic anemia;

Symbol : DRTA4;

CISMeF acronym : DRTA4;

Type : Phenotype, molecular basis known;

Included titles and symbols : Renal tubular acidosis, distal, with normal red cell morphology;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 4, anion exchanger, member 1 gene (SLC4A1, 109270.0016);

Laboratory abnormalities : Hypokalemia;

Prefixed ID : #611590;

Details

Origin ID

611590;

UMLS CUI

C5436235;

Automatic exact mappings (from CISMeF team)
- renal tubular acidosis, distal, with normal red cell morphology [MeSH Supplementary Concept]
- renal tubular acidosis, distal, with normal red cell morphology [MeSH concept]
Broader ORDO disease(s)
- Distal renal tubular acidosis [ORDO Disease]
Currated CISMeF NLP mapping
- Distal renal tubular acidosis with anemia [ORDO Disease]
- renal tubular acidosis, distal, with hemolytic anemia [MeSH concept]
- renal tubular acidosis, distal, with hemolytic anemia [MeSH Supplementary Concept]
HPO term(s)
- Anorexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased mean corpuscular volume [HPO term]
- Distal renal tubular acidosis [HPO term]
- Failure to thrive [HPO term]
- Hemolytic anemia [HPO term]
- Hepatosplenomegaly [HPO term]
- Hyperchloremic metabolic acidosis [HPO term]
- Hypokalemia [HPO term]
- Isothenuria [HPO term]
- Lethargy [HPO term]
- Metabolic acidosis [HPO term]
- Nephrocalcinosis [HPO term]
- Pallor [HPO term]
- Reticulocytosis [HPO term]
- Rickets [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Distal renal tubular acidosis [ORDO Disease]
- Distal renal tubular acidosis with anemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal Recessive Distal Renal Tubular Acidosis-4 with Hemolytic Anemia [NCIt concept]
- Distal renal tubular acidosis with anemia [ORDO Disease]
- renal tubular acidosis, distal, with hemolytic anemia [MeSH Supplementary Concept]
- renal tubular acidosis, distal, with hemolytic anemia [MeSH concept]

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