Renal tubular acidosis, distal, with nephrocalcinosis, short stature, impaired intellectual development, and distinctive facies

Preferred Label : Renal tubular acidosis, distal, with nephrocalcinosis, short stature, impaired intellectual development, and distinctive facies;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies;

Inheritance : Autosomal recessive;

Laboratory abnormalities : Proteinuria; Hypercalcemia; Hypokalemia; Hypercalciuria;

Prefixed ID : 611555;

Détails

Origin ID

611555;

UMLS CUI

C1969055;

Automatic exact mappings (from CISMeF team)
- renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies [MeSH concept]
- renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies [MeSH Supplementary Concept]
HPO term(s)
- Abnormal CNS myelination [HPO term]
- Autosomal recessive inheritance [HPO term]
- Avascular necrosis of the capital femoral epiphysis [HPO term]
- Beta 2-microglobulinuria [HPO term]
- Delayed skeletal maturation [HPO term]
- Medullary nephrocalcinosis [HPO term]
- Metabolic acidosis [HPO term]
- Osteopenia [HPO term]
- Proteinuria [HPO term]
- Reduced renal corticomedullary differentiation [HPO term]
- Renal cortical hyperechogenicity [HPO term]
- Renal hypoplasia [HPO term]
- Scoliosis [HPO term]
- Short stature [HPO term]
- Ventriculomegaly [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies [MeSH Supplementary Concept]
- renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies [MeSH concept]

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