MCID: OST076
MIFTS: 18

Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis 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 50 23 12
Familial Osteochondritis Dissecans 52 66
Osteochondritis Dissecans Short Stature and Early-Onset Osteoarthritis 68
 
Osteochondritis Dissecans and Short Stature 52
Od 68

Characteristics:

Orphanet epidemiological data:

52
familial osteochondritis dissecans:
Inheritance: Autosomal dominant; Age of onset: Childhood

HPO:

62
osteochondritis dissecans, short stature, and early-onset osteoarthritis:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 165800
Orphanet52 ORPHA251262
ICD10 via Orphanet29 M93.2
MeSH37 D010008

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

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OMIM:50 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, pain in elbow and swollen elbows. An important gene associated with Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis is ACAN (Aggrecan). Affiliated tissues include bone.

UniProtKB/Swiss-Prot:68 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 dissecans11.8

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:

(show all 6)
id Description Frequency HPO Source Accession
1 growth abnormality HP:0001507
2 waddling gait HP:0002515
3 osteoarthritis HP:0002758
4 short stature HP:0004322
5 osteochondritis dissecans HP:0010886
6 exostoses HP:0100777

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


waddling gait, pain in elbow, swollen 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 Osteoarthritis23 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:

34
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:

68
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)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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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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet