Disease browser and phenotype portal

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MSeqDR-LSDB
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- mtDNA Tool:
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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: Blood Protein Disorders (D001796)
Parent Node: Immunoproliferative Disorders (D007160)
Parent Node: Signs and Symptoms (D012816)
..Starting node ..Hypergammaglobulinemia (D006942)
Child Nodes:
........Capillary leak syndrome with monoclonal gammopathy (C535573)
........Hyperimmunoglobulin G1(A1) Syndrome (C564173)
........Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, and Glomerulonephritis (C565427)
........Mevalonate Kinase Deficiency (D054078)
........Monoclonal Gammopathy of Undetermined Significance (D008998) 1
Sister Nodes:
..Aging, Premature (D019588) 1
..Asthenia (D001247)
..Body Temperature Changes (D001832) 10
..Body Weight (D001835) 59
..Cardiac Output, High (D016534)
..Cardiac Output, Low (D002303)
..Chills (D023341)
..Cyanosis (D003490) 3
..Edema (D004487) 11
..Eye Manifestations (D005132) 9
..Failure to Thrive (D005183) 5
..Fatigue (D005221) 2
..Feminization (D005262)
..Fetal Distress (D005316)
..Flushing (D005483) 2
..Heart Murmurs (D006337) 1
..Hot Flashes (D019584)
..Hypergammaglobulinemia (D006942) 6
..Hyperlactatemia (D065906)
..Hypertriglyceridemic Waist (D064250)
..Intermittent Claudication (D007383)
..Mobility Limitation (D051346)
..Motion Sickness (D009041) 2
..Neurologic Manifestations (D009461) 1586
..Oral Manifestations (D009912) 3
..Pain (D010146) 55
..Polydipsia (D059606) 1
..Prodromal Symptoms (D062706)
..Pseudophakia (D019591)
..Reticulocytosis (D045262)
..Signs and Symptoms, Digestive (D012817) 50
..Signs and Symptoms, Respiratory (D012818) 37
..Skin Manifestations (D012877) 42
..Urological Manifestations (D020924) 26
..Virilism (D014770) 8
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	5373
Name:	Hypergammaglobulinemia
Definition:	An excess of GAMMA-GLOBULINS in the serum due to chronic infections or PARAPROTEINEMIAS.
Alternative IDs:
ParentIDs:	MESH:D001796\|MESH:D007160\|MESH:D012816
TreeNumbers:	C15.378.147.542 \|C20.683.460 \|C23.888.512
Synonyms:	Hypergammaglobulinemias \|Hyperimmunoglobulinemia \|Hyperimmunoglobulinemias
Slim Mappings:	Blood disease\|Immune system disease\|Signs and symptoms
Reference:	MedGen: D006942 MeSH: D006942 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants