Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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

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

Disease Browser
Parent Node: Foot Deformities, Congenital (D005532)
Parent Node: Hand Deformities, Congenital (D006228)
Parent Node: Synostosis (D013580)
..Starting node ..NOG-Related-Symphalangism Spectrum Disorder (C536943)
Child Nodes:
Sister Nodes:
..Antley-Bixler Syndrome Phenotype (D054882) 2
..Banki Syndrome (C566228)
..Coronal synostosis, syndactyly and jejunal atresia (C536445)
..Craniosynostoses (D003398) 64
..Der Kaloustian Mcintosh Silver syndrome (C538217)
..Humeroradial Multiple Synostosis Syndrome (C565509)
..Humeroradial Synostosis with Craniofacial Anomalies (C566888)
..Jorgenson Lenz syndrome (C536292)
..Mesomelia-synostoses syndrome (C537348)
..MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
..Multiple synostoses syndrome 2 (C537380)
..Multiple Synostoses Syndrome 3 (C567839)
..NOG-Related-Symphalangism Spectrum Disorder (C536943)
..Patella aplasia, coxa vara, tarsal synostosis (C536307)
..Prata Libéral Gonçalves syndrome (C538277)
..Radioulnar Synostosis (C562408)
..Radioulnar synostosis retinal pigment abnormalities (C536270)
..Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia (C565328)
..Radioulnar Synostosis, Radial Ray Abnormalities, and Severe Malformations in the Male (C564557)
..Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia (C564856)
..Ramer Ladda syndrome (C535284)
..Spondylocarpotarsal synostosis (C535780)
..Symphalangism of Toes (C566101)
..Symphalangism with Multiple Anomalies of Hands and Feet (C566098)
..Syndactyly (D013576) 69
..Synostoses, tarsal, carpal, and digital (C538156)
..Synostosis of Talus and Calcaneus with Short Stature (C566089)
..Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly (C566090)
..Tsukahara Syndrome (C566376)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8090

Name:

NOG-Related-Symphalangism Spectrum Disorder

Definition:

Alternative IDs:

OMIM:186570

ParentIDs:

MESH:D005532|MESH:D006228|MESH:D013580

TreeNumbers:

C05.116.099.370.894/C536943 |C05.330.495/C536943 |C05.390.408/C536943 |C05.660.585.512.380/C536943 |C05.660.585.988.425/C536943 |C05.660.906/C536943 |C16.131.621.585.380/C536943 |C16.131.621.585.425/C536943 |C16.131.621.906/C536943

Synonyms:

Ankylosis Of Stapes, Hyperopia, Broad Thumbs, Broad First Toes, And Syndactyly |Brachydactyly, Type B2 |Deafness-symphalangism syndrome of Herrmann |Facioaudiosymphalangism syndrome |Multiple synostoses syndrome 1 |Stapes Ankylosis Syndrome Without Symphalang

Slim Mappings:

Congenital abnormality|Musculoskeletal disease

Reference:

MedGen: C536943
MeSH: C536943
OMIM: 186570;

Genes: NOG;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001156	Brachydactyly
3	HP:0009702	Carpal synostosis	HP:0040282
4	HP:0030084	Clinodactyly
5	HP:0002967	Cubitus valgus	HP:0040283
6	HP:0001204	Distal symphalangism of hands	HP:0040283
7	HP:0003041	Humeroradial synostosis	HP:0040283
8	HP:0006147	Progressive fusion 2nd-5th pip joints
9	HP:0006152	Proximal symphalangism of hands	HP:0040282
10	HP:0009466	Radial deviation of finger	HP:0040282
11	HP:0010034	Short 1st metacarpal	HP:0040282
12	HP:0009381	Short finger
13	HP:0004322	Short stature
14	HP:0008368	Tarsal synostosis	HP:0040282

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_005450.4(NOG):c.104C>G (p.Pro35Arg)	9241	NOG	Pathogenic	104894611	RCV000049267; RCV000007085;	N	MedGen:C1861305,OMIM:186570,ORPHA:1412; MedGen:C1861385,OMIM:185800,ORPHA:3250	17	54671688	54671688	NM_005450.4:c.104C>G	NP_005441.1:p.Pro35Arg	NC_000017.10:g.54671688C>G	OMIM Allelic Variant:602991.0007	C1861385 185800 Cushing's symphalangism; C1861305 186570 Tarsal carpal coalition syndrome
NM_005450.4(NOG):c.611G>T (p.Arg204Leu)	9241	NOG	Pathogenic	104894610	RCV000007084;	N	MedGen:C1861305,OMIM:186570,ORPHA:1412	17	54672195	54672195	NM_005450.4:c.611G>T	NP_005441.1:p.Arg204Leu	NC_000017.10:g.54672195G>T	OMIM Allelic Variant:602991.0006	C1861305 186570 Tarsal carpal coalition syndrome
NM_005450.4(NOG):c.665A>G (p.Tyr222Cys)	9241	NOG	Pathogenic	104894602	RCV000007079; RCV000007087;	N	MedGen:C1861305,OMIM:186570,ORPHA:1412; MedGen:C1861385,OMIM:185800,ORPHA:3250	17	54672249	54672249	NM_005450.4:c.665A>G	NP_005441.1:p.Tyr222Cys	NC_000017.10:g.54672249A>G	OMIM Allelic Variant:602991.0001,OMIM Allelic Variant:602991.0008	C1861385 185800 Cushing's symphalangism; C1861305 186570 Tarsal carpal coalition syndrome