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Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/OMIM/208230
http://purl.bioontology.org/ontology/OMIM/208230
Preferred Name

PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA
Synonyms
PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY OF CHILDHOOD
ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH PROGRESSIVE ARTHROPATHY
PPAC
SEDT-PA
PPRD
PPD
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY OF CHILDHOOD
ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH PROGRESSIVE ARTHROPATHY
PPAC
SEDT-PA
PPRD
PPD
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prefLabel
PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA
Gene Symbol
CCN6
PPAC
PPRD
WISP3
notation
208230
Scope Statement
Caused by mutation in the cellular communication network factor 6 gene (CCN6, 603400.0001) [MOLECULAR BASIS]
Walking difficulties [MISCELLANEOUS]
Waddling gait [MISCELLANEOUS]
Onset of disease 3-8 years [MISCELLANEOUS]
OMIM MimType Value
pound
Has inheritance type
Semantic type UMLS property
OMIM Entry Type
3
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU014395
http://purl.bioontology.org/ontology/OMIM/MTHU002713
http://purl.bioontology.org/ontology/OMIM/MTHU014382
http://purl.bioontology.org/ontology/OMIM/MTHU014387
http://purl.bioontology.org/ontology/OMIM/MTHU014377
http://purl.bioontology.org/ontology/OMIM/MTHU014391
http://purl.bioontology.org/ontology/OMIM/MTHU014396
http://purl.bioontology.org/ontology/OMIM/MTHU014384
http://purl.bioontology.org/ontology/OMIM/MTHU014379
http://purl.bioontology.org/ontology/OMIM/MTHU036874
http://purl.bioontology.org/ontology/OMIM/MTHU014393
http://purl.bioontology.org/ontology/OMIM/MTHU014378
http://purl.bioontology.org/ontology/OMIM/MTHU014376
http://purl.bioontology.org/ontology/OMIM/MTHU014386
http://purl.bioontology.org/ontology/OMIM/MTHU014394
http://purl.bioontology.org/ontology/OMIM/MTHU002160
http://purl.bioontology.org/ontology/OMIM/MTHU014381
http://purl.bioontology.org/ontology/OMIM/MTHU000038
http://purl.bioontology.org/ontology/OMIM/MTHU014388
http://purl.bioontology.org/ontology/OMIM/MTHU014385
http://purl.bioontology.org/ontology/OMIM/MTHU014383
http://purl.bioontology.org/ontology/OMIM/MTHU014392
http://purl.bioontology.org/ontology/OMIM/MTHU014390
http://purl.bioontology.org/ontology/OMIM/MTHU014389
http://purl.bioontology.org/ontology/OMIM/MTHU014380
http://purl.bioontology.org/ontology/OMIM/MTHU000585
http://purl.bioontology.org/ontology/OMIM/MTHU005547
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MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
6q21
tui
T047
cui
C0432215
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