rhizomelic chondrodysplasia punctata type 1

rhizomelic chondrodysplasia punctata that has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23.3
MedicalCondition rare_disease Q2964435
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rhizomelic chondrodysplasia punctata type 1

Summary

rhizomelic chondrodysplasia punctata type 1 is a rare disease[1].

Key Facts

  • rhizomelic chondrodysplasia punctata type 1's instance of is recorded as rare disease[2].
  • rhizomelic chondrodysplasia punctata type 1's instance of is recorded as class of disease[3].
  • rhizomelic chondrodysplasia punctata type 1's subclass of is recorded as rhizomelic chondrodysplasia punctata[4].
  • rhizomelic chondrodysplasia punctata type 1's subclass of is recorded as Zellweger spectrum disorder[5].
  • rhizomelic chondrodysplasia punctata type 1's subclass of is recorded as eye degenerative disease[6].
  • rhizomelic chondrodysplasia punctata type 1's OMIM ID is recorded as 215100[7].
  • rhizomelic chondrodysplasia punctata type 1's Disease Ontology ID is recorded as DOID:0110851[8].
  • rhizomelic chondrodysplasia punctata type 1's Orphanet ID is recorded as 309789[9].
  • rhizomelic chondrodysplasia punctata type 1's health specialty is recorded as medical genetics[10].
  • rhizomelic chondrodysplasia punctata type 1's genetic association is recorded as PEX7[11].
  • rhizomelic chondrodysplasia punctata type 1's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110851[12].
  • rhizomelic chondrodysplasia punctata type 1's exact match is recorded as http://identifiers.org/doid/DOID:0110851[13].
  • rhizomelic chondrodysplasia punctata type 1's UMLS CUI is recorded as C1859133[14].
  • rhizomelic chondrodysplasia punctata type 1's ICD-10-CM is recorded as Q77.3[15].
  • rhizomelic chondrodysplasia punctata type 1's GARD rare disease ID is recorded as 6049[16].
  • rhizomelic chondrodysplasia punctata type 1's on focus list of Wikimedia project is recorded as WikiProject Medicine[17].
  • rhizomelic chondrodysplasia punctata type 1's Mondo ID is recorded as MONDO_0008972[18].
  • rhizomelic chondrodysplasia punctata type 1's UniProt disease ID is recorded as DI-01001[19].

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] . Disease Ontology. Retrieved . wikidata.org.
  4. [5] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [6] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [7] . Disease Ontology. Retrieved . wikidata.org.
  7. [8] . Disease Ontology. Retrieved . wikidata.org.
  8. [9] . Disease Ontology. Retrieved . wikidata.org.
  9. [10] . wikidata.org.
  10. [11] . Q905695. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  11. [12] . Disease Ontology. Retrieved . wikidata.org.
  12. [13] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  13. [14] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  14. [15] . Disease Ontology. Retrieved . wikidata.org.
  15. [16] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  16. [17] . wikidata.org.
  17. [18] . wikidata.org.
  18. [19] . wikidata.org.

Class ancestry

  1. [1] . Wikidata. wikidata.org.

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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.

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BibTeX @misc{4ortxyz_rhizomelic-chondrodysplasia-punctata-type-1_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{rhizomelic chondrodysplasia punctata type 1}}, year = {2026}, url = {https://4ort.xyz/entity/rhizomelic-chondrodysplasia-punctata-type-1}, note = {Accessed: 2026-05-03}}
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