Disease browser and phenotype portal

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MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
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- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
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- HBCR Exome (Retired)
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- Data - Awsomics GeEx
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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: Constriction, Pathologic (D003251)
Parent Node: Growth Disorders (D006130)
Parent Node: Joint Diseases (D007592)
..Starting node ..Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy (C566379)
Child Nodes:
Sister Nodes:
..Ankylosis (D000844) 10
..Arthralgia (D018771) 1
..Arthritis (D001168) 57
..Arthrogryposis (D001176) 55
..Arthropathy, Neurogenic (D001177) 3
..Borrone Di Rocco Crovato syndrome (C536577)
..Brachydactylous dwarfism Mseleni type (C537086)
..Bursitis (D002062) 1
..Calcification of Joints and Arteries (C565891)
..Chondromatosis, Synovial (D015838) 1
..Contracture (D003286) 41
..Coracoclavicular Joint, Anomalous (C565161)
..Cushing's symphalangism (C536223)
..Dwarfism stiff joint ocular abnormalities (C535724)
..Femoracetabular Impingement (D057925)
..Flynn Aird syndrome (C537066)
..GEMSS syndrome (C537679)
..Growth mental deficiency syndrome of Myhre (C537620)
..Hallux Limitus (D020857)
..Hallux Rigidus (D020859)
..Hemarthrosis (D006395)
..Hip Dysplasia, Beukes Type (C564185)
..Hydrarthrosis (D006833)
..Joint Deformities, Acquired (D016916)
..Joint Instability (D007593) 17
..Joint Loose Bodies (D007594)
..Laplane Fontaine Lagardere syndrome (C537869)
..Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy (C566379)
..Leri pleonosteosis (C537118)
..Metatarsalgia (D037061)
..Morillo-Cucci Passarge syndrome (C536983)
..Nail-Patella Syndrome (D009261) 1
..Osteoarthropathy, Primary Hypertrophic (D010004) 2
..Osteoarthropathy, Secondary Hypertrophic (D010005)
..Patellofemoral Pain Syndrome (D046788)
..Pfeiffer Palm Teller syndrome (C537889)
..Short stature and locking fingers (C537603)
..Shoulder Impingement Syndrome (D019534)
..Synovitis (D013585) 5
..Temporomandibular Joint Disorders (D013705) 2
..Thai Symphalangism Syndrome (C564303)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	6224
Name:	Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy
Definition:
Alternative IDs:
ParentIDs:	MESH:D003251\|MESH:D006130\|MESH:D007592
TreeNumbers:	C05.550/C566379 \|C23.300.287/C566379 \|C23.550.393/C566379
Synonyms:
Slim Mappings:	Musculoskeletal disease\|Pathology (anatomical condition)\|Pathology (process)
Reference:	MedGen: C566379 MeSH: C566379 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants