Disease browser and phenotype portal

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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

Disease Browser
Parent Node: Signs and Symptoms (D012816)
..Starting node ..Heart Murmurs (D006337)
Child Nodes:
........Systolic Murmurs (D054160)
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:	4948
Name:	Heart Murmurs
Definition:	Heart sounds caused by vibrations resulting from the flow of blood through the heart. Heart murmurs can be examined by HEART AUSCULTATION, and analyzed by their intensity (6 grades), duration, timing (systolic, diastolic, or continuous), location, transmission, and quality (musical, vibratory, blowing, etc).
Alternative IDs:
ParentIDs:	MESH:D012816
TreeNumbers:	C23.888.447
Synonyms:	Cardiac Murmur \|Cardiac Murmurs \|Diastolic Murmur \|Diastolic Murmurs \|Heart Murmur \|Innocent Murmur \|Innocent Murmurs \|Murmur, Cardiac \|Murmur, Diastolic \|Murmur, Heart \|Murmur, Innocent \|Murmurs, Cardiac \|Murmurs, Diastolic \|Murmurs, Heart \|Murmurs, Innocent
Slim Mappings:	Signs and symptoms
Reference:	MedGen: D006337 MeSH: D006337 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants