Disease browser and phenotype 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

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: LEOPARD Syndrome (D044542)
..Starting node ..LEOPARD SYNDROME 3 (OMIM:613707)
Child Nodes:
Sister Nodes:
..LEOPARD SYNDROME 3 (OMIM:613707)
..LEOPARD syndrome, 2 (C537117)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6311

Name:

LEOPARD SYNDROME 3

Definition:

Alternative IDs:

ParentIDs:

MESH:D044542

TreeNumbers:

C05.660.207.525/613707 |C14.240.400.695/613707 |C14.280.400.695/613707 |C14.280.484.716.525/613707 |C16.131.077.525/613707 |C16.131.240.400.685/613707 |C16.131.621.207.525/613707 |C17.800.621.430.530.550.525/613707

Synonyms:

LPRD3

Slim Mappings:

Cardiovascular disease|Congenital abnormality|Musculoskeletal disease|Skin disease

Reference:

MedGen: 613707
MeSH: 613707
OMIM: 613707;

Genes: BRAF;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001646	Abnormal aortic valve morphology
3	HP:0001633	Abnormal mitral valve morphology
4	HP:0100543	Cognitive impairment	HP:0040283
5	HP:0002212	Curly hair	HP:0040283
6	HP:0002750	Delayed skeletal maturation
7	HP:0005280	Depressed nasal bridge
8	HP:0000962	Hyperkeratosis
9	HP:0000316	Hypertelorism
10	HP:0001249	Intellectual disability
11	HP:0000369	Low-set ears
12	HP:0007565	Multiple cafe-au-lait spots
13	HP:0001003	Multiple lentigines
14	HP:0001319	Neonatal hypotonia
15	HP:0001054	Numerous nevi
16	HP:0000358	Posteriorly rotated ears
17	HP:0001250	Seizure
18	HP:0000407	Sensorineural hearing impairment
19	HP:0000914	Shield chest
20	HP:0000470	Short neck
21	HP:0004322	Short stature
22	HP:0001636	Tetralogy of Fallot
23	HP:0000465	Webbed neck

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_004333.4(BRAF):c.721A>C (p.Thr241Pro)	673	BRAF	Likely pathogenic;Pathogenic	387906661	RCV000022680; RCV000055896; RCV000022681; RCV000033279; RCV000207516; RCV000211752;	N	MedGen:C0175704, Orphanet:ORPHA500; MedGen:C1275081, Orphanet:ORPHA1340,SNOMED CT:403770008; MedGen:C3150971,OMIM:613707; MedGen:CN029449,OMIM:115150; MedGen:CN166718; MedGen:CN221809	7	140501351	140501351	NM_004333.4:c.721A>C	NP_004324.2:p.Thr241Pro	NC_000007.13:g.140501351T>G	OMIM Allelic Variant:164757.0024	C1275081 Cardiofaciocutaneous syndrome; CN029449 115150 Cardiofaciocutaneous syndrome 1; C3150971 613707 LEOPARD syndrome 3; C0175704 Noonan syndrome with multiple lentigines; CN221809 not provided; CN166718 Rasopathy