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: Abnormalities, Multiple (D000015)
Parent Node: Arthrogryposis (D001176)
Parent Node: Trismus (D014313)
..Starting node ..Hecht syndrome (C535857)
Child Nodes:
Sister Nodes:
..Crisponi syndrome (C536214)
..Hecht syndrome (C535857)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4966

Name:

Hecht syndrome

Definition:

Alternative IDs:

OMIM:158300

ParentIDs:

MESH:D000015|MESH:D001176|MESH:D014313

TreeNumbers:

C05.550.150/C535857 |C05.651.102/C535857 |C05.660.077/C535857 |C10.597.613.750.700/C535857 |C16.131.077/C535857 |C16.131.621.077/C535857 |C23.888.592.608.750.700/C535857

Synonyms:

Slim Mappings:

Congenital abnormality|Musculoskeletal disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: C535857
MeSH: C535857
OMIM: 158300;

Genes: MYH8;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0002804	Arthrogryposis multiplex congenita
3	HP:0010621	Cutaneous syndactyly of toes
4	HP:0002002	Deep philtrum	HP:0040283
5	HP:0005684	Distal arthrogryposis
6	HP:0002015	Dysphagia
7	HP:0000324	Facial asymmetry
8	HP:0011968	Feeding difficulties
9	HP:0001765	Hammertoe
10	HP:0002827	Hip dislocation
11	HP:0000256	Macrocephaly	HP:0040283
12	HP:0001840	Metatarsus adductus
13	HP:0000347	Micrognathia
14	HP:0000508	Ptosis
15	HP:0004322	Short stature
16	HP:0001762	Talipes equinovarus
17	HP:0400000	Tall chin	HP:0040283
18	HP:0000211	Trismus

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_002472.2(MYH8):c.2021G>A (p.Arg674Gln)	-1	-	Pathogenic	121434590	RCV000015197; RCV000015198;	N	MedGen:C0265226,OMIM:158300,ORPHA:3377,SNOMED CT:8757006; MedGen:C1837245,OMIM:608837,ORPHA:319340	17	10310241	10310241	NM_002472.2:c.2021G>A	NP_002463.2:p.Arg674Gln	NC_000017.10:g.10310241C>T	OMIM Allelic Variant:160741.0001	C1837245 608837 Carney complex variant; C0265226 158300 Hecht syndrome