OD
MCID: OST076
MIFTS: 18

Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis (OD) malady

Categories: Genetic diseases, Bone diseases, Rare diseases

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

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

Name: Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis 52 24 12
Familial Osteochondritis Dissecans 54 68
Osteochondritis Dissecans Short Stature and Early-Onset Osteoarthritis 70
 
Osteochondritis Dissecans and Short Stature 54
Od 70

Characteristics:

Orphanet epidemiological data:

54
familial osteochondritis dissecans:
Inheritance: Autosomal dominant; Age of onset: Childhood

HPO:

64
osteochondritis dissecans, short stature, and early-onset osteoarthritis:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 165800
Orphanet54 ORPHA251262
ICD10 via Orphanet31 M93.2
MeSH39 D010008

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

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OMIM:52 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, also known as familial osteochondritis dissecans, is related to familial osteochondritis dissecans, and has symptoms including waddling gait, elbow pain and swelling in the elbows. An important gene associated with Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis is ACAN (Aggrecan). Affiliated tissues include bone.

UniProtKB/Swiss-Prot:70 Osteochondritis dissecans short stature and early-onset osteoarthritis: A type of osteochondritis defined as a separation of cartilage and subchondral bone from the surrounding tissue, primarily affecting the knee, ankle and elbow joints. It is clinically characterized by multiple osteochondritic lesions in knees and/or hips and/or elbows, disproportionate short stature and early-onset osteoarthritis.

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 dissecans11.6

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

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Symptoms by clinical synopsis from OMIM:

165800

Clinical features from OMIM:

165800

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

 64 (show all 6)
id Description HPO Frequency HPO Source Accession
1 growth abnormality64 HP:0001507
2 waddling gait64 HP:0002515
3 osteoarthritis64 HP:0002758
4 short stature64 HP:0004322
5 osteochondritis dissecans64 HP:0010886
6 exostoses64 HP:0100777

UMLS symptoms related to Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis:


waddling gait, elbow pain, swelling in the elbows

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

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Interventional clinical trials:

Search ClinicalTrials, 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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Genetic tests related to Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis:

id Genetic test Affiliating Genes
1 Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis24 ACAN

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:

36
Bone

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:

70
id Symbol AA change Variation ID SNP ID
1ACANp.Val2303MetVAR_063765

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1ACANNM_ 013227.3(ACAN): c.7249G> A (p.Val2417Met)SNVPathogenicrs267606625GRCh37Chr 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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GO Terms for genes affiliated with Osteochondritis Dissecans, Short Stature, and Early-Onset...

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet