MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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MSeqDR-LSDB
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Hello! Guest! Please Login or Register! Clinician Mode

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

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Cataract (D002386)
Parent Node: Corneal Dystrophies, Hereditary (D003317)
Parent Node: Iris Diseases (D007499)
..Starting node ..EDICT SYNDROME (OMIM:614303)
Child Nodes:
Sister Nodes:
..Aniridia (D015783) 10
..De Hauwere Leroy Adriaenssens syndrome (C535991)
..EDICT SYNDROME (OMIM:614303)
..Exfoliation Syndrome (D017889)
..Heterochromia iridis (C538115)
..Iridocorneal Endothelial Syndrome (D057129)
..Iridocyclitis (D015863)
..Iridogoniodysgenesis type1 (C535535)
..Iridogoniodysgenesis, dominant type (C535536)
..Iris Neoplasms (D015811)
..Iritis (D007500)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

4025

Name:

EDICT SYNDROME

Definition:

Alternative IDs:

ParentIDs:

MESH:D002386|MESH:D003317|MESH:D007499

TreeNumbers:

C11.204.236/614303 |C11.270.162/614303 |C11.510.245/614303 |C11.941.375/614303 |C16.320.290.162/614303

Synonyms:

EDICT |ENDOTHELIAL DYSTROPHY, IRIS HYPOPLASIA, CONGENITAL CATARACT, AND STROMAL THINNING SYNDROME |KERATOCONUS, FAMILIAL, WITH EARLY-ONSET ANTERIOR POLAR CATARACT |KERATOCONUS WITH CATARACT |KTCNCT

Slim Mappings:

Eye disease|Genetic disease (inborn)

Reference:

MedGen: 614303
MeSH: 614303
OMIM: 614303;
MSeqDR :
Genes: MIR184;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000483	Astigmatism
3	HP:0000519	Congenital cataract
4	HP:0007676	Hypoplasia of the iris
5	HP:0000563	Keratoconus	HP:0040283
6	HP:0000482	Microcornea
7	HP:0007663	Reduced visual acuity
8	HP:0000505	Visual impairment

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
NR_029705.1(MIR184):n.57C>T	406960	MIR184	Pathogenic	2141170209	RCV000023998;	N	MONDO:MONDO:0013678,MedGen:C3280392,OMIM:614303, Orphanet:293936	15	79502186	79502186			NC_000015.9:g.79502186C>T	OMIM:613146.0001	C3280392 614303 EDICT syndrome;

MSeqDR Portal

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