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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, 2 (C537117)
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:

6310

Name:

LEOPARD syndrome, 2

Definition:

Alternative IDs:

OMIM:611554

ParentIDs:

MESH:D044542

TreeNumbers:

C05.660.207.525/C537117 |C14.240.400.695/C537117 |C14.280.400.695/C537117 |C14.280.484.716.525/C537117 |C16.131.077.525/C537117 |C16.131.240.400.685/C537117 |C16.131.621.207.525/C537117 |C17.800.621.430.530.550.525/C537117

Synonyms:

Leopard Syndrome 2 |LPRD2

Slim Mappings:

Cardiovascular disease|Congenital abnormality|Musculoskeletal disease|Skin disease

Reference:

MedGen: C537117
MeSH: C537117
OMIM: 611554;

Genes: RAF1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000766	Abnormal sternum morphology
3	HP:0000957	Cafe-au-lait spot
4	HP:0002967	Cubitus valgus
5	HP:0002212	Curly hair
6	HP:0005280	Depressed nasal bridge
7	HP:0000268	Dolichocephaly
8	HP:0000494	Downslanted palpebral fissures
9	HP:0000958	Dry skin
10	HP:0000286	Epicanthus
11	HP:0000316	Hypertelorism
12	HP:0001639	Hypertrophic cardiomyopathy
13	HP:0000369	Low-set ears
14	HP:0000303	Mandibular prognathia
15	HP:0001003	Multiple lentigines
16	HP:0000470	Short neck
17	HP:0004322	Short stature
18	HP:0000179	Thick lower lip vermilion
19	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_002880.3(RAF1):c.1837C>G (p.Leu613Val)	5894	RAF1	Pathogenic	80338797	RCV000020508; RCV000014990; RCV000014989; RCV000159089;	N	MedGen:C0175704, Orphanet:ORPHA500; MedGen:C1969056,OMIM:611554; MedGen:C1969057,OMIM:611553; MedGen:CN166718	3	12626123	12626123	NM_002880.3:c.1837C>G	NP_002871.1:p.Leu613Val	NC_000003.11:g.12626123G>C	OMIM Allelic Variant:164760.0004	C1969056 611554 LEOPARD syndrome 2; C1969057 611553 Noonan syndrome 5; C0175704 Noonan syndrome with multiple lentigines; CN166718 Rasopathy
NM_002880.3(RAF1):c.770C>T (p.Ser257Leu)	5894	RAF1	Pathogenic	80338796	RCV000020509; RCV000014985; RCV000014986; RCV000157426; RCV000149826; RCV000157685;	N	MedGen:C0028326, Orphanet:ORPHA648,SNOMED CT:205824006; MedGen:C0175704, Orphanet:ORPHA500; MedGen:C1969056,OMIM:611554; MedGen:C1969057,OMIM:611553; MedGen:CN166718; MedGen:CN221809	3	12645699	12645699	NM_002880.3:c.770C>T	NP_002871.1:p.Ser257Leu	NC_000003.11:g.12645699G>A	OMIM Allelic Variant:164760.0001	C1969056 611554 LEOPARD syndrome 2; C0028326 Noonan syndrome; C1969057 611553 Noonan syndrome 5; C0175704 Noonan syndrome with multiple lentigines; CN221809 not provided; CN166718 Rasopathy