Nephrolithiasis-Osteoporosis, hypophosphatemic, 2

Preferred Label : Nephrolithiasis-Osteoporosis, hypophosphatemic, 2;

MeSH note : mutation in SLC9A3R1;

MeSH synonym : NPHLOP2;

Origin ID

C567362;

UMLS CUI

C2676782;

Currated CISMeF NLP mapping
- Nephrolithiasis/osteoporosis, hypophosphatemic, 2 [OMIM Phenotype]
- hypophosphatemic nephrolithiasis/osteoporosis 2 [DO Concept]
DO Cross reference
- hypophosphatemic nephrolithiasis/osteoporosis 2 [DO Concept]
MeSH term(s) associated for indexing
- hypophosphatemia [MeSH Descriptor]
- nephrolithiasis [MeSH Descriptor]
- osteoporosis [MeSH Descriptor]
- renal tubular transport, inborn errors [MeSH Descriptor]
Record concept(s)
- Nephrolithiasis-Osteoporosis, hypophosphatemic, 2 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Nephrolithiasis/osteoporosis, hypophosphatemic, 2 [OMIM Phenotype]
- hypophosphatemic nephrolithiasis/osteoporosis 2 [DO Concept]