Disease browser and phenotype portal

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MSeqDR-LSDB
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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: Dysostoses (D004413)
Parent Node: Musculoskeletal Abnormalities (D009139)
..Starting node ..Klippel-Feil Syndrome (D007714)
Child Nodes:
........Calabro syndrome (C537960)
........Klippel Feil syndrome dominant type (C536887) 1
........Klippel Feil syndrome recessive type (C536888)
........Segmentation syndrome 1 (C537538)
Sister Nodes:
..Absent patella (C535568)
..ACROPECTOROVERTEBRAL DYSPLASIA (OMIM:102510)
..Arthrogryposis (D001176) 55
..Campomelic Dysplasia (D055036) 6
..Cervical Rib Syndrome (D002573) 1
..Chondrodysplasia, Grebe type (C537915)
..Congenital absence of gluteal muscles (C535561)
..Congenital absence of the sternocleidomastoid muscle (C535977)
..Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi (C567863)
..Craniofacial Abnormalities (D019465) 685
..Funnel Chest (D005660) 4
..Gastroschisis (D020139) 1
..Hajdu-Cheney Syndrome (D031845) 1
..Hip Dislocation, Congenital (D006618) 12
..Klippel-Feil Syndrome (D007714) 5
..Larsen syndrome, recessive type (C537874)
..Laryngomalacia (D055092) 1
..Limb Deformities, Congenital (D017880) 495
..Pectus Carinatum (D066166)
..Pseudoarthrogryposis (C566753)
..Pterygium, Antecubital (C566738)
..Sacrococcygeal dysgenesis association (C537225)
..Sternal cleft (C537489)
..Synostosis (D013580) 150
..Tracheobronchomalacia (D055089) 4
..VACTERL Association With Hydrocephalus (C564751)
..Widow's Peak Syndrome (C564040)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	6112
Name:	Klippel-Feil Syndrome
Definition:	A syndrome characterised by a low hairline and a shortened neck resulting from a reduced number of vertebrae or the fusion of multiple hemivertebrae into one osseous mass.
Alternative IDs:
ParentIDs:	MESH:D004413\|MESH:D009139
TreeNumbers:	C05.116.099.370.535 \|C05.660.551 \|C16.131.621.551
Synonyms:	Cervical Fusion Syndrome \|Dystrophia Brevicollis Congenita \|Dystrophia Brevicollis Congenitas \|Klippel-Feil Sequence \|Klippel Feil Syndrome \|Syndrome, Klippel-Feil \|Vertebral Cervical Fusion Syndrome
Slim Mappings:	Congenital abnormality\|Musculoskeletal disease
Reference:	MedGen: D007714 MeSH: D007714 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants