Disease #00693 (OSCDP (osteoarthritis, with mild chondrodysplasia (OSCDP)), OMIM:604864)

Official abbreviation OSCDP
Name osteoarthritis, with mild chondrodysplasia (OSCDP)
OMIM ID 604864
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 30
Phenotype entries for this disease 29
Associated with 1 gene COL2A1
Associated tissues -
Disease features -
Remarks -


Individuals

30 entries on 1 page. Showing entries 1 - 30.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00024287 - - - - - ? (unknown) - - 0 - - OSCDP - COL2A1 COL2A1 1 1 Johan den Dunnen
00024298 - - - - - ? (unknown) - - 0 - - OSCDP - COL2A1 COL2A1 1 1 Johan den Dunnen
00024419 - - - - - ? (unknown) - - 0 - - OSCDP osteoarthritis ? COL2A1 COL2A1 1 1 Johan den Dunnen
00024818 - - - F - (France) - - 0 - - OSCDP early onset COL2A1 COL2A1 1 3 Isabelle Touitou
00024819 - - - F - (France) - - 0 - - OSCDP early onset COL2A1 COL2A1 1 3 Isabelle Touitou
00024820 - - - F - (France) - - 0 - - OSCDP early onset COL2A1 COL2A1 1 3 Isabelle Touitou
00024821 - - - F - (France) - - 0 - - OSCDP early onset COL2A1 COL2A1 1 1 Isabelle Touitou
00024823 - - - M - (France) - - 0 - - OSCDP early onset COL2A1 COL2A1 1 1 Isabelle Touitou
00024838 - - - F - (France) - - 0 - - OSCDP early onset COL2A1 COL2A1 1 1 Isabelle Touitou
00024848 - - - M - (France) - - 0 - - OSCDP early onset COL2A1 COL2A1 1 1 Isabelle Touitou
00024886 - - - F - (France) - - 0 - - OSCDP early onset COL2A1 COL2A1 1 5 Isabelle Touitou
00024887 - - - M - (France) - - 0 - - OSCDP early onset COL2A1 COL2A1 1 5 Isabelle Touitou
00024888 - - - M - (France) - - 0 - - OSCDP early onset COL2A1 COL2A1 1 5 Isabelle Touitou
00024889 - - - M - (France) - - 0 - - OSCDP early onset COL2A1 COL2A1 1 5 Isabelle Touitou
00024890 - - - M - (France) - - 0 - - OSCDP early onset COL2A1 COL2A1 1 5 Isabelle Touitou
00024896 - - - F - (France) - - 0 - - OSCDP early onset COL2A1 COL2A1 1 1 Isabelle Touitou
00038405 - PubMed: Bleasel 1995 - M ? (United States) - - 0 - - OSCDP early onset osteoarthritis COL2A1 COL2A1 1 2 Isabelle Touitou
00038406 - PubMed: Bleasel 1996 - M ? (United States) - - 0 - - OSCDP early onset osteoarthritis COL2A1 COL2A1 1 2 Isabelle Touitou
00038409 - PubMed: Carlson 2006 - ? ? (United States) Micronesian - 0 - - OSCDP early onset osteoarthritis COL2A1 COL2A1 1 10 Isabelle Touitou
00038416 - PubMed: Kannu 2010 - M no (Australia) Australia - 0 - - OSCDP early onset osteoarthritis COL2A1 COL2A1 1 4 Isabelle Touitou
00038417 - PubMed: Kannu 2010 - F no (Australia) Australia - 0 - - OSCDP early onset osteoarthritis COL2A1 COL2A1 1 3 Isabelle Touitou
00038424 - PubMed: Löppönen 2004 - F ? (Finland) - - 0 - - OSCDP early onset osteoarthritis COL2A1 COL2A1 1 2 Isabelle Touitou
00038477 - PubMed: Williams 1995 - F ? (United States) - - 0 - - OSCDP early onset osteoarthritis, spondyloepiphyseal dysplasia COL2A1 COL2A1 1 4 Isabelle Touitou
00038497 - Barat-Houari et al, pers.comm. - F ? (France) - - 0 - - OSCDP early onset osteoarthritis COL2A1 COL2A1 1 5 Isabelle Touitou
00038498 - Barat-Houari et al, pers.comm. - F ? (France) - - 0 - - OSCDP early onset osteoarthritis COL2A1 COL2A1 1 5 Isabelle Touitou
00038499 - Barat-Houari et al, pers.comm. - F ? (France) - - 0 - - OSCDP early onset osteoarthritis COL2A1 COL2A1 1 6 Isabelle Touitou
00038500 - Barat-Houari et al, pers.comm. - F ? (France) - - 0 - - OSCDP early onset osteoarthritis COL2A1 COL2A1 1 5 Isabelle Touitou
00038501 - Barat-Houari et al, pers.comm. - F ? (France) - - 0 - - OSCDP early onset osteoarthritis COL2A1 COL2A1 1 5 Isabelle Touitou
00111433 - - - F ? (France) - - 0 - - OSCDP - COL2A1 COL2A1 1 1 Mouna Barat-Houari
00180361 - - - - - - - - 0 - - OSCDP - COL2A1 COL2A1 1 1 Gemeinschaftspraxis für Humangenetik Dresden
Legend   How to query