Disease browser and phenotype portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Growth Disorders (D006130)
Parent Node: Osteoarthritis (D010003)
Parent Node: Osteochondritis Dissecans (D010008)
..Starting node ..OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS (OMIM:165800)
Child Nodes:
Sister Nodes:
..Familial Osteochondritis Dissecans (C580095)
..OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS (OMIM:165800)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8381

Name:

OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS

Definition:

Alternative IDs:

ParentIDs:

MESH:D006130|MESH:D010003|MESH:D010008

TreeNumbers:

C05.116.791.668/165800 |C05.550.114.606/165800 |C05.799.613/165800 |C23.550.393/165800

Synonyms:

Slim Mappings:

Musculoskeletal disease|Pathology (process)

Reference:

MedGen: 165800
MeSH: 165800
OMIM: 165800;

Genes: ACAN;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000924	Abnormality of the skeletal system
3	HP:0100777	Exostoses
4	HP:0001507	Growth abnormality
5	HP:0002758	Osteoarthritis
6	HP:0010886	Osteochondritis Dissecans
7	HP:0004322	Short stature
8	HP:0002515	Waddling gait

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_013227.3(ACAN):c.7249G>A (p.Val2417Met)	176	ACAN	Pathogenic	267606625	RCV000015376;	N	MedGen:C0029421,OMIM:165800,ORPHA:2764,SNOMED CT:82562007	15	89416172	89416172	NM_013227.3:c.7249G>A	NP_037359.3:p.Val2417Met	NC_000015.9:g.89416172G>A	OMIM Allelic Variant:155760.0003	C0029421 165800 Osteochondritis dissecans