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autosomal recessive hypophosphatemic rickets

rickets that has material basis in autosomal recessive inheritance mutation in the DMP1 gene and is haracterized by hypophosphatemia, rickets and/or osteomalacia and slow growth
MedicalCondition rare_disease Q21097764
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autosomal recessive hypophosphatemic rickets

Summary

autosomal recessive hypophosphatemic rickets is a rare disease[1].

Key Facts

  • autosomal recessive hypophosphatemic rickets's instance of is recorded as rare disease[2].
  • autosomal recessive hypophosphatemic rickets's instance of is recorded as class of disease[3].
  • autosomal recessive hypophosphatemic rickets's subclass of is recorded as hypophosphatemic rickets[4].
  • autosomal recessive hypophosphatemic rickets's subclass of is recorded as familial hypophosphatemia[5].
  • autosomal recessive hypophosphatemic rickets's subclass of is recorded as autosomal recessive disease[6].
  • autosomal recessive hypophosphatemic rickets's subclass of is recorded as rickets[7].
  • autosomal recessive hypophosphatemic rickets's MeSH descriptor ID is recorded as C562792[8].
  • autosomal recessive hypophosphatemic rickets's OMIM ID is recorded as 613312[9].
  • autosomal recessive hypophosphatemic rickets's OMIM ID is recorded as 241520[10].
  • autosomal recessive hypophosphatemic rickets's KEGG ID is recorded as H02139[11].
  • autosomal recessive hypophosphatemic rickets's Disease Ontology ID is recorded as DOID:0050949[12].
  • autosomal recessive hypophosphatemic rickets's Orphanet ID is recorded as 289176[13].
  • autosomal recessive hypophosphatemic rickets's genetic association is recorded as DMP1[14].
  • autosomal recessive hypophosphatemic rickets's genetic association is recorded as ENPP1[15].
  • autosomal recessive hypophosphatemic rickets's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0050949[16].
  • autosomal recessive hypophosphatemic rickets's exact match is recorded as http://identifiers.org/doid/DOID:0050949[17].
  • autosomal recessive hypophosphatemic rickets's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_289176[18].
  • autosomal recessive hypophosphatemic rickets's UMLS CUI is recorded as C0342643[19].
  • autosomal recessive hypophosphatemic rickets's on focus list of Wikimedia project is recorded as WikiProject Medicine[20].
  • autosomal recessive hypophosphatemic rickets's Mondo ID is recorded as MONDO_0009430[21].
  • autosomal recessive hypophosphatemic rickets's UniProt disease ID is recorded as DI-01243[22].

References

Programmatic citations — every numbered marker resolves to a verifiable graph row below.

Direct Wikidata claims

  1. [2] ↑ . wikidata.org.
  2. [3] ↑ . wikidata.org.
  3. [4] ↑ . wikidata.org.
  4. [5] ↑ . wikidata.org.
  5. [6] ↑ . Disease Ontology. Retrieved . wikidata.org.
  6. [7] ↑ . Disease Ontology. Retrieved . wikidata.org.
  7. [8] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  8. [9] ↑ . Disease Ontology. Retrieved . wikidata.org.
  9. [10] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  10. [11] ↑ . wikidata.org.
  11. [12] ↑ . Disease Ontology. Retrieved . wikidata.org.
  12. [13] ↑ . Disease Ontology. Retrieved . wikidata.org.
  13. [14] ↑ . Q905695. Retrieved . wikidata.org.
  14. [15] ↑ . Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. wikidata.org.
  15. [16] ↑ . Disease Ontology. Retrieved . wikidata.org.
  16. [17] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  17. [18] ↑ . wikidata.org.
  18. [19] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  19. [20] ↑ . wikidata.org.
  20. [21] ↑ . wikidata.org.
  21. [22] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

📑 Cite this page

Use these citations when quoting this entity in research, articles, AI prompts, or wherever provenance matters. We aggregate Wikidata + Wikipedia + authoritative open-data sources; the stitched, scored, cross-referenced view is what 4ort.xyz contributes.

APA 4ort.xyz Knowledge Graph. (2026). autosomal recessive hypophosphatemic rickets. Retrieved May 3, 2026, from https://4ort.xyz/entity/autosomal-recessive-hypophosphatemic-rickets
MLA “autosomal recessive hypophosphatemic rickets.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/autosomal-recessive-hypophosphatemic-rickets.
BibTeX @misc{4ortxyz_autosomal-recessive-hypophosphatemic-rickets_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{autosomal recessive hypophosphatemic rickets}}, year = {2026}, url = {https://4ort.xyz/entity/autosomal-recessive-hypophosphatemic-rickets}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): autosomal recessive hypophosphatemic rickets — https://4ort.xyz/entity/autosomal-recessive-hypophosphatemic-rickets (retrieved 2026-05-03)

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