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rhizomelic chondrodysplasia punctata

^ 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 ]

Term info

database cross reference
  • GARD:0013160 (MONDO:equivalentTo)
  • OMIMPS:215100 (MONDO:equivalentTo)
  • DOID:2580 (MONDO:equivalentTo)
  • SCTID:56692003 (MONDO:equivalentTo)
  • MESH:D018902 (Orphanet:177/e)
  • Orphanet:177 (MONDO:equivalentTo)
  • ICD10CM:E71.540 (MONDO:equivalentTo)
  • NCIT:C85047 (MONDO:equivalentTo)
  • UMLS:C0282529 (Orphanet:177/e)
Subsets

gard_rare, ordo_disease

abbreviation
RCDP [ Orphanet:177 ]

definition

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

exactMatch

http://identifiers.org/snomedct/56692003, http://identifiers.org/mesh/D018902, http://linkedlifedata.com/resource/umls/id/C0282529, http://purl.obolibrary.org/obo/Orphanet_177, http://purl.obolibrary.org/obo/DOID_2580, https://omim.org/phenotypicSeries/PS215100, http://purl.obolibrary.org/obo/NCIT_C85047, http://purl.bioontology.org/ontology/ICD10CM/E71.540

has exact synonym

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

id

MONDO:0015776

seeAlso

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