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
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
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- Panel Tool:
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- Transgenomic_NuclearMitome
- Pedigree Maker
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Phenome-Disease
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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: Otorhinolaryngologic Diseases (D010038)
Parent Node: Respiratory Tract Diseases (D012140)
..Starting node ..Laryngeal Diseases (D007818)
Child Nodes:
........Asrar Facharzt Haque syndrome (C535391)
........Granuloma, Laryngeal (D006102)
........Laryngeal Atresia, Encephalocele, and Limb Deformities (C564620)
........Laryngeal Edema (D007819)
........Laryngeal Neoplasms (D007822) 1
........Laryngeal Nerve Injuries (D061224) 1
........Laryngitis (D007827) 1
........Laryngo onycho cutaneous syndrome (C537032)
........Laryngocele (D059608)
........Laryngomalacia (D055092) 1
........Laryngopharyngeal Reflux (D057045) 1
........Laryngostenosis (D007829)
........Larynx, Congenital Partial Atresia of (C563637)
........Myopathy, Distal 2 (C565262)
........Supraglottitis (D059525) 1
........Tuberculosis, Laryngeal (D014387)
........Vocal Cord Dysfunction (D064706) 1
........Vocal Cord Paralysis (D014826) 6
........Voice Disorders (D014832) 7
Sister Nodes:
..Bronchial Diseases (D001982) 54
..Ciliary Motility Disorders (D002925) 21
..Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities (C567716)
..Granuloma, Respiratory Tract (D015769) 1
..Laryngeal Diseases (D007818) 37
..Lung Diseases (D008171) 190
..Nose Diseases (D009668) 42
..Pleural Diseases (D010995) 19
..Respiration Disorders (D012120) 65
..Respiratory Hypersensitivity (D012130) 30
..Respiratory System Abnormalities (D015619) 27
..Respiratory Tract Fistula (D016156) 6
..Respiratory Tract Infections (D012141) 75
..Respiratory Tract Neoplasms (D012142) 30
..Siegler Brewer Carey syndrome (C537335)
..Thoracic Diseases (D013896) 7
..Tracheal Diseases (D014133) 19
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	6211
Name:	Laryngeal Diseases
Definition:	Pathological processes involving any part of the LARYNX which coordinates many functions such as voice production, breathing, swallowing, and coughing.
Alternative IDs:
ParentIDs:	MESH:D010038\|MESH:D012140
TreeNumbers:	C08.360 \|C09.400
Synonyms:	Disease, Laryngeal \|Disease, Larynx \|Diseases, Laryngeal \|Diseases, Larynx \|Laryngeal Disease \|Laryngeal Perichondritides \|Laryngeal Perichondritis \|Larynx Disease \|Larynx Diseases \|Perichondritides, Laryngeal \|Perichondritis, Laryngeal
Slim Mappings:	Ear-nose-throat disease\|Respiratory tract disease
Reference:	MedGen: D007818 MeSH: D007818 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants