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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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Intellectual Disability (D008607)
Parent Node: Limb Deformities, Congenital (D017880)
Parent Node: Microcephaly (D008831)
Parent Node: Tracheoesophageal Fistula (D014138)
..Starting node ..Oculodigitoesophagoduodenal syndrome (C537734)
Child Nodes:
Sister Nodes:
..Esophageal atresia with or without tracheoesophageal fistula (C531835)
..Martinez-Frias Syndrome (C563346)
..Oculodigitoesophagoduodenal syndrome (C537734)
..Vater Association With Hydrocephalus (C564752)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8186

Name:

Oculodigitoesophagoduodenal syndrome

Definition:

Alternative IDs:

OMIM:164280

ParentIDs:

MESH:D008607|MESH:D008831|MESH:D014138|MESH:D017880

TreeNumbers:

C05.660.207.620/C537734 |C05.660.585/C537734 |C06.267.250.725/C537734 |C06.405.117.367.725/C537734 |C08.702.750/C537734 |C08.907.863/C537734 |C10.500.507.400.500/C537734 |C10.597.606.643/C537734 |C16.131.621.207.620/C537734 |C16.131.621.585/C537734 |C16.131.666.50

Synonyms:

Slim Mappings:

Reference:

MedGen: C537734
MeSH: C537734
OMIM: 164280;

Genes: MYCN;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0004691	2-3 toe syndactyly	HP:0040284
3	HP:0004692	4-5 toe syndactyly	HP:0040284
4	HP:0001747	Accessory spleen
5	HP:0001734	Annular pancreas
6	HP:0000463	Anteverted nares
7	HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger
8	HP:0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger
9	HP:0001746	Asplenia
10	HP:0000581	Blepharophimosis
11	HP:0001558	Decreased fetal movement
12	HP:0000437	Depressed nasal tip
13	HP:0002247	Duodenal atresia
14	HP:0000286	Epicanthus
15	HP:0002032	Esophageal atresia
16	HP:0000232	Everted lower lip vermilion
17	HP:0000324	Facial asymmetry
18	HP:0000365	Hearing impairment
19	HP:0000218	High palate
20	HP:0001249	Intellectual disability
21	HP:0000369	Low-set ears
22	HP:0000252	Microcephaly
23	HP:0000347	Micrognathia
24	HP:0001643	Patent ductus arteriosus
25	HP:0001561	Polyhydramnios
26	HP:0001748	Polysplenia
27	HP:0000358	Posteriorly rotated ears
28	HP:0000269	Prominent occiput
29	HP:0012745	Short palpebral fissure
30	HP:0001831	Short toe
31	HP:0000237	Small anterior fontanelle
32	HP:0001328	Specific learning disability
33	HP:0012471	Thick vermilion border
34	HP:0002575	Tracheoesophageal fistula
35	HP:0000325	Triangular face
36	HP:0000582	Upslanted palpebral fissure
37	HP:0001605	Vocal cord paralysis
38	HP:0000431	Wide nasal bridge

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
NM_005378.5(MYCN):c.217G>T (p.Glu73Ter)	4613	MYCN	Pathogenic	113994115	RCV000014910;	N	MedGen:C0796068,OMIM:164280,ORPHA:391641	2	16082403	16082403	NM_005378.5:c.217G>T	NP_005369.2:p.Glu73Ter	NC_000002.11:g.16082403G>T	OMIM Allelic Variant:164840.0004	C0796068 164280 Feingold syndrome 1
NM_005378.5(MYCN):c.231G>A (p.Trp77Ter)	4613	MYCN	Pathogenic	121913667	RCV000014909;	N	MedGen:C0796068,OMIM:164280,ORPHA:391641	2	16082417	16082417	NM_005378.5:c.231G>A	NP_005369.2:p.Trp77Ter	NC_000002.11:g.16082417G>A	OMIM Allelic Variant:164840.0007	C0796068 164280 Feingold syndrome 1
NM_005378.5(MYCN):c.1145G>A (p.Arg382His)	4613	MYCN	Pathogenic	121913666	RCV000014912;	N	MedGen:C0796068,OMIM:164280,ORPHA:391641	2	16085969	16085969	NM_005378.5:c.1145G>A	NP_005369.2:p.Arg382His	NC_000002.11:g.16085969G>A	OMIM Allelic Variant:164840.0006	C0796068 164280 Feingold syndrome 1
NM_005378.5(MYCN):c.1177C>A (p.Arg393Ser)	4613	MYCN	Pathogenic	104893647	RCV000014907;	N	MedGen:C0796068,OMIM:164280,ORPHA:391641	2	16086001	16086001	NM_005378.5:c.1177C>A	NP_005369.2:p.Arg393Ser	NC_000002.11:g.16086001C>A	OMIM Allelic Variant:164840.0002	C0796068 164280 Feingold syndrome 1
NM_005378.5(MYCN):c.1178G>A (p.Arg393His)	4613	MYCN	Pathogenic	104893646	RCV000014906;	N	MedGen:C0796068,OMIM:164280,ORPHA:391641	2	16086002	16086002	NM_005378.5:c.1178G>A	NP_005369.2:p.Arg393His	NC_000002.11:g.16086002G>A	OMIM Allelic Variant:164840.0001	C0796068 164280 Feingold syndrome 1
NM_005378.5(MYCN):c.1181G>A (p.Arg394His)	4613	MYCN	Pathogenic	104893648	RCV000014908;	N	MedGen:C0796068,OMIM:164280,ORPHA:391641	2	16086005	16086005	NM_005378.5:c.1181G>A	NP_005369.2:p.Arg394His	NC_000002.11:g.16086005G>A	OMIM Allelic Variant:164840.0003	C0796068 164280 Feingold syndrome 1