autosomal dominant hypophosphatemic rickets

Go to external page http://purl.obolibrary.org/obo/MONDO_0008660


Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia. [ Orphanet : 89937 ]

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:237889002 (MONDO:equivalentTo)
  • UMLS:C0342642 (Orphanet:89937/e)
  • DOID:0050948 (MONDO:equivalentTo)
  • OMIM:193100 (Orphanet:89937/e)
  • Orphanet:89937 (OMIM:193100)
  • ICD10CM:E83.3 (Orphanet:89937/ntbt)
  • MESH:C562791 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
ADHR [ https://omim.org/entry/193100 Orphanet : 89937 MONDO : Lexical ]
definition
  • Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia.
exactMatch
  • http://identifiers.org/mesh/C562791
  • http://www.orpha.net/ORDO/Orphanet_89937
  • http://purl.obolibrary.org/obo/DOID_0050948
  • https://omim.org/entry/193100
  • http://linkedlifedata.com/resource/umls/id/C0342642
  • http://identifiers.org/snomedct/237889002
has exact synonym
  • ADHR
  • autosomal dominant hypophosphatemic rickets
  • autosomal dominant hypophosphatemia
  • autosomal dominant hereditary hypophosphatemic rickets
  • hereditary hypophosphatemic rickets, autosomal dominant
  • hypophosphatemic rickets, autosomal dominant
has related synonym
  • hypophosphatemia, autosomal dominant
  • vitamin D-resistant rickets, autosomal dominant
id
  • MONDO:0008660
term tracker item
  • https://github.com/monarch-initiative/mondo/issues/4948