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
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- 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: Neoplasms (D009369)
..Starting node ..Hamartoma (D006222)
Child Nodes:
........Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant (C565284)
........Follicular hamartoma alopecia cystic fibrosis (C537071)
........Giant mammary hamartoma (C536818)
........Hamartoma Syndrome, Multiple (D006223) 10
........Hamartoma, Precalcaneal Congenital Fibrolipomatous (C565226)
........Hypothalamic hamartomas (C537158)
........Lip, Hamartomatous (C563621)
........Michelin tire baby syndrome (C537575)
........Microgastria limb reduction defect (C537554)
........Orstavik Lindemann Solberg syndrome (C537137)
........Pallister-Hall Syndrome (D054975)
........Tuberous Sclerosis (D014402) 4
Sister Nodes:
..abc disease (C579754)
..Chromosomal Instability with Tissue-Specific Radiosensitivity (C565848)
..Cysts (D003560) 78
..Hamartoma (D006222) 26
..Neoplasms by Histologic Type (D009370) 696
..Neoplasms by Site (D009371) 492
..Neoplasms, Experimental (D009374) 37
..Neoplasms, Hormone-Dependent (D009376)
..Neoplasms, Multiple Primary (D009378) 24
..Neoplasms, Post-Traumatic (D017169)
..Neoplasms, Radiation-Induced (D009381) 3
..Neoplasms, Second Primary (D016609)
..Neoplastic Processes (D009385) 18
..Neoplastic Syndromes, Hereditary (D009386) 111
..Paraneoplastic Syndromes (D010257) 16
..Precancerous Conditions (D011230) 29
..Pregnancy Complications, Neoplastic (D011252) 7
..Tumor Virus Infections (D014412) 20
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	4878
Name:	Hamartoma
Definition:	A focal malformation resembling a neoplasm, composed of an overgrowth of mature cells and tissues that normally occur in the affected area.
Alternative IDs:
ParentIDs:	MESH:D009369
TreeNumbers:	C04.445
Synonyms:	Hamartomas
Slim Mappings:	Cancer
Reference:	MedGen: D006222 MeSH: D006222 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants