The new version of OLS (OLS4) will be unavailable for the next few days while we resolve deployment issues.

You can continue to browse this version of OLS, but some ontologies may be out of date.

JSON

hypophosphatemic rickets, autosomal recessive, 1

Go to external page http://purl.obolibrary.org/obo/MONDO_0009430

Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the DMP1 gene. [ MONDO : patterns/disease_series_by_gene ]

This is just here as a test because I lose it

Term information

database cross reference
abbreviation
ARHR1 [ https://omim.org/entry/241520 MONDO : Lexical ]
conformsTo
  • http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml
definition
  • Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the DMP1 gene.
exactMatch
  • http://identifiers.org/mesh/C562792
  • https://omim.org/entry/241520
  • http://linkedlifedata.com/resource/umls/id/C0342643
has exact synonym
  • DMP1 autosomal recessive hypophosphatemic rickets
  • hypophosphatemic rickets, autosomal recessive, 1
  • autosomal recessive hypophosphatemic rickets caused by mutation in DMP1
  • hypophosphatemic rickets, AR
  • hypophosphatemic rickets, autosomal recessive, type 1
has related synonym
  • Arhr
  • hypophosphatemia, autosomal recessive
  • ARHR1
id
  • MONDO:0009430
term tracker item
  • https://github.com/monarch-initiative/mondo/issues/4948
  • https://github.com/monarch-initiative/mondo/issues/4521