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;
Origin ID : 611555;
UMLS CUI : C1969055;
Automatic exact mappings (from CISMeF team)
HPO term(s)
Semantic type(s)
UMLS correspondences (same concept)