JSON

rhizomelic chondrodysplasia punctata

Go to external page http://purl.obolibrary.org/obo/MONDO_0015776

Rhizomelic chondrodysplasia is a form chondrodysplasia punctata, a group of diseases in which the common characteristic is calcifications near joints at birth. [ Orphanet:177 ]

Synonyms: chondrodysplasia punctata, rhizomelic form rhizomelic chondrodysplasia punctata rhizomelic chondrodysplasia punctata syndrome rhizomelic dwarfism RCDP

This is just here as a test because I lose it

Term information

database cross reference
  • icd11.foundation:260357080 (MONDO:equivalentTo)
  • OMIMPS:215100 (MONDO:equivalentTo)
  • Orphanet:177 (MONDO:equivalentTo)
  • GARD:13160 (MONDO:GARD)
  • DOID:2580 (MONDO:equivalentTo)
  • MESH:D018902 (Orphanet:177/e)
  • NCIT:C85047 (MONDO:equivalentTo)
  • ICD10CM:E71.540 (MONDO:equivalentTo)
  • UMLS:C0282529 (MONDO:equivalentTo)
  • MEDGEN:79471 (MONDO:equivalentTo)
  • SCTID:56692003 (MONDO:equivalentTo)
Subsets

ordo_disorder, gard_rare, matrix_llm__is_cancer_other, mondo_top_grouping_disorder_of_visual_system, matrix_llm__txgnn_other, mondo_top_grouping_member, nord_rare, matrix_included, mondo_top_grouping_metabolic_disease, matrix_txgnn_grouping_member, rare, harrisons_view_musculoskeletal_system_disorder, orphanet_rare, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, harrisons_view_disorder_of_visual_system, mondo_top_grouping_musculoskeletal_system_disorder, matrix_llm__tag_existing_treatment_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, icd10_billable, matrix_txgnn_grouping_metabolic_disease, harrisons_view_member, harrisons_view_hereditary_disease, mondo_top_grouping_disorder_of_orbital_region, harrisons_view_metabolic_disease

ClinGen label
rhizomelic chondrodysplasia punctata [ NCIT:C85047 DOID:2580 Orphanet:177 OMIMPS:215100 icd11.foundation:260357080 ICD10CM:E71.540 ]

abbreviation
RCDP [ Orphanet:177 ]

exactMatch

http://identifiers.org/snomedct/56692003

http://identifiers.org/mesh/D018902

http://linkedlifedata.com/resource/umls/id/C0282529

http://purl.obolibrary.org/obo/DOID_2580

http://identifiers.org/medgen/79471

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/260357080

https://omim.org/phenotypicSeries/PS215100

http://www.orpha.net/ORDO/Orphanet_177

http://purl.obolibrary.org/obo/NCIT_C85047

http://purl.bioontology.org/ontology/ICD10CM/E71.540

id

MONDO:0015776

seeAlso

https://rarediseases.info.nih.gov/diseases/13160/rhizomelic-chondrodysplasia-punctata

should conform to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml