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progressive pseudorheumatoid arthropathy of childhood

^ http://purl.obolibrary.org/obo/MONDO_0008827

Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED. [ Orphanet:1159 ]

Term info

database cross reference
  • SCTID:254065005 (MONDO:equivalentTo)
  • Orphanet:1159 (OMIM:208230)
  • OMIM:208230 (Orphanet:1159/e)
  • ICD9:756.9 (MONDO:relatedTo)
  • GARD:0009184 (MONDO:equivalentTo)
  • DOID:0090004 (MONDO:equivalentTo)
  • MESH:C535387 (Orphanet:1159/e)
Subsets

ordo_disease

abbreviation
PPAC [ MONDO:Lexical OMIM:208230 ]

ambiguous
PPD [ GARD:0009184 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4948

definition

Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED.

exactMatch

http://identifiers.org/snomedct/254065005, http://purl.obolibrary.org/obo/Orphanet_1159, http://purl.obolibrary.org/obo/DOID_0090004, https://omim.org/entry/208230, http://identifiers.org/mesh/C535387

has exact synonym

spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome, progressive pseudorheumatoid arthropathy of childhood

has related synonym

spondyloepiphyseal dysplasia tarda with progressive arthropathy, spondyloepiphyseal dysplasia tarda - progressive arthropathy, SEDT-PA, PPD, PPAC, progressive pseudorheumatoid chondrodysplasia, arthropathy, progressive pseudorheumatoid, of childhood, progressive pseudorheumatoid dysplasia

id

MONDO:0008827