acromesomelic dysplasia, Grebe type

acromesomelic dysplasia that has material basis in mutation in CDMP-1 which results in micromelia, absence of middle and proximal phalanges and some metacarpal and metatarsal bones
MedicalCondition developmental_defect_during_embryogenesis Q9190289
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acromesomelic dysplasia, Grebe type

Summary

acromesomelic dysplasia, Grebe type is a developmental defect during embryogenesis[1]. It draws 1 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #135 of 308).[2]

Key Facts

  • acromesomelic dysplasia, Grebe type's instance of is recorded as developmental defect during embryogenesis[3].
  • acromesomelic dysplasia, Grebe type's instance of is recorded as rare disease[4].
  • acromesomelic dysplasia, Grebe type's instance of is recorded as genetic disease[5].
  • acromesomelic dysplasia, Grebe type's instance of is recorded as class of disease[6].
  • acromesomelic dysplasia, Grebe type's subclass of is recorded as acromesomelic dysplasia[7].
  • acromesomelic dysplasia, Grebe type's subclass of is recorded as autosomal recessive disease[8].
  • acromesomelic dysplasia, Grebe type's OMIM ID is recorded as 200700[9].
  • acromesomelic dysplasia, Grebe type's KEGG ID is recorded as H00466[10].
  • acromesomelic dysplasia, Grebe type's Disease Ontology ID is recorded as DOID:0080052[11].
  • acromesomelic dysplasia, Grebe type's Orphanet ID is recorded as 2098[12].
  • acromesomelic dysplasia, Grebe type's NCI Thesaurus ID is recorded as C3816[13].
  • acromesomelic dysplasia, Grebe type's genetic association is recorded as GDF5[14].
  • acromesomelic dysplasia, Grebe type's Google Knowledge Graph ID is recorded as /g/120kyzyr[15].
  • acromesomelic dysplasia, Grebe type's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0080052[16].
  • acromesomelic dysplasia, Grebe type's exact match is recorded as http://identifiers.org/doid/DOID:0080052[17].
  • acromesomelic dysplasia, Grebe type's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_2098[18].
  • acromesomelic dysplasia, Grebe type's UMLS CUI is recorded as C0220685[19].
  • acromesomelic dysplasia, Grebe type's UMLS CUI is recorded as C0265260[20].
  • acromesomelic dysplasia, Grebe type's ICD-10-CM is recorded as Q78.8[21].
  • acromesomelic dysplasia, Grebe type's GARD rare disease ID is recorded as 1300[22].
  • acromesomelic dysplasia, Grebe type's on focus list of Wikimedia project is recorded as WikiProject Medicine[23].
  • acromesomelic dysplasia, Grebe type's Mondo ID is recorded as MONDO_0008703[24].
  • acromesomelic dysplasia, Grebe type's WikiProjectMed ID is recorded as Chondrodysplasia, Grebe type[25].
  • acromesomelic dysplasia, Grebe type's UniProt disease ID is recorded as DI-00031[26].

Why It Matters

acromesomelic dysplasia, Grebe type draws 1 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #135 of 308).[2]

References

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

Direct Wikidata claims

  1. [3] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  2. [4] . wikidata.org.
  3. [5] . wikidata.org.
  4. [6] . wikidata.org.
  5. [7] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [8] . Disease Ontology. Retrieved . wikidata.org.
  7. [9] . Disease Ontology. Retrieved . wikidata.org.
  8. [10] . wikidata.org.
  9. [11] . Disease Ontology. Retrieved . wikidata.org.
  10. [12] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  11. [13] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  12. [14] . Q905695. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  13. [15] . wikidata.org.
  14. [16] . Disease Ontology. Retrieved . wikidata.org.
  15. [17] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  16. [18] . wikidata.org.
  17. [19] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  18. [20] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  19. [21] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  20. [22] . wikidata.org.
  21. [23] . wikidata.org.
  22. [24] . wikidata.org.
  23. [25] . wikidata.org.
  24. [26] . wikidata.org.

Class ancestry

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

Aggregate / graph-position facts

  1. [2] . Wikimedia Foundation. dumps.wikimedia.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). acromesomelic dysplasia, Grebe type. Retrieved May 3, 2026, from https://4ort.xyz/entity/acromesomelic-dysplasia-grebe-type
MLA “acromesomelic dysplasia, Grebe type.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/acromesomelic-dysplasia-grebe-type.
BibTeX @misc{4ortxyz_acromesomelic-dysplasia-grebe-type_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{acromesomelic dysplasia, Grebe type}}, year = {2026}, url = {https://4ort.xyz/entity/acromesomelic-dysplasia-grebe-type}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): acromesomelic dysplasia, Grebe type — https://4ort.xyz/entity/acromesomelic-dysplasia-grebe-type (retrieved 2026-05-03)

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