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
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- Submit_Interpret_Variant
- Instructions

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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: Congenital Abnormalities (D000013)
Parent Node: Musculoskeletal Diseases (D009140)
..Starting node ..Musculoskeletal Abnormalities (D009139)
Child 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)
Sister Nodes:
..Bone Diseases (D001847) 1082
..C SYNDROME (OMIM:211750)
..Cartilage Diseases (D002357) 22
..Fasciitis (D005208) 4
..Foot Deformities (D005530) 92
..Foot Diseases (D005534) 13
..Hand Deformities (D006226) 137
..Jaw Diseases (D007571) 199
..Joint Diseases (D007592) 230
..Muscular Diseases (D009135) 430
..Musculoskeletal Abnormalities (D009139) 1165
..Rheumatic Diseases (D012216) 38
..Spondylocarpotarsal synostosis (C535780)
..Tennis Elbow (D013716)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	7567
Name:	Musculoskeletal Abnormalities
Definition:	Congenital structural abnormalities and deformities of the musculoskeletal system.
Alternative IDs:
ParentIDs:	MESH:D000013\|MESH:D009140
TreeNumbers:	C05.660 \|C16.131.621
Synonyms:	Abnormalities, Musculoskeletal \|Abnormality, Musculoskeletal \|Musculoskeletal Abnormality
Slim Mappings:	Congenital abnormality\|Musculoskeletal disease
Reference:	MedGen: D009139 MeSH: D009139 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants