MCID: OST076
MIFTS: 12

Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis malady

Genetic diseases (common), Bone diseases categories

Summaries for Osteochondritis Dissecans, Short Stature, and Early-Onset...

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OMIM:45 The skeletal disorder osteochondritis dissecans is defined as a separation of cartilage and subchondral bone from the... (165800) more...

MalaCards based summary: Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis is related to familial osteochondritis dissecans, and has symptoms including autosomal dominant inheritance, growth abnormality and waddling gait. An important gene associated with Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis is ACAN (aggrecan). Affiliated tissues include bone.

Aliases & Classifications for Osteochondritis Dissecans, Short Stature, and Early-Onset...

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Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis, Aliases & Descriptions:

Name: Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis 45 10


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Bone diseases


External Ids:

OMIM45 165800

Related Diseases for Osteochondritis Dissecans, Short Stature, and Early-Onset...

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Diseases related to Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1familial osteochondritis dissecans10.6

Symptoms for Osteochondritis Dissecans, Short Stature, and Early-Onset...

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Symptoms by clinical synopsis from OMIM:

165800

Clinical features from OMIM:

165800

HPO human phenotypes related to Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 growth abnormality HP:0001507
3 waddling gait HP:0002515
4 osteoarthritis HP:0002758
5 exostoses HP:0100777

Drugs & Therapeutics for Osteochondritis Dissecans, Short Stature, and Early-Onset...

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Drug clinical trials:

Search ClinicalTrials for Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis

Search NIH Clinical Center for Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis

Genetic Tests for Osteochondritis Dissecans, Short Stature, and Early-Onset...

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Anatomical Context for Osteochondritis Dissecans, Short Stature, and Early-Onset...

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MalaCards organs/tissues related to Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis:

31
Bone

Animal Models for Osteochondritis Dissecans, Short Stature, and Early-Onset... or affiliated genes

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Publications for Osteochondritis Dissecans, Short Stature, and Early-Onset...

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Variations for Osteochondritis Dissecans, Short Stature, and Early-Onset...

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UniProtKB/Swiss-Prot genetic disease variations for Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis:

62
id Symbol AA change Variation ID SNP ID
1ACANp.Val2303MetVAR_063765

Clinvar genetic disease variations for Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis:

6
id Gene Variation Type Significance SNP ID Assembly Location
1ACANNM_013227.3(ACAN): c.7249G> A (p.Val2417Met)single nucleotide variantPathogenicrs267606625GRCh37Chr 15, 89416172: 89416172

Expression for genes affiliated with Osteochondritis Dissecans, Short Stature, and Early-Onset...

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Search GEO for disease gene expression data for Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis.

Pathways for genes affiliated with Osteochondritis Dissecans, Short Stature, and Early-Onset...

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Compounds for genes affiliated with Osteochondritis Dissecans, Short Stature, and Early-Onset...

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GO Terms for genes affiliated with Osteochondritis Dissecans, Short Stature, and Early-Onset...

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Products for genes affiliated with Osteochondritis Dissecans, Short Stature, and Early-Onset...

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Osteochondritis Dissecans, Short Stature, and Early-Onset...

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet