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 ..Cyanosis (D003490)
Child Nodes:
........Cyanosis and Hepatic Disease (C565660)
........Infantile Apparent Life-Threatening Event (D057768)
........Rombo syndrome (C535870)
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:	2912
Name:	Cyanosis
Definition:	A bluish or purplish discoloration of the skin and mucous membranes due to an increase in the amount of deoxygenated hemoglobin in the blood or a structural defect in the hemoglobin molecule.
Alternative IDs:
ParentIDs:	MESH:D012816
TreeNumbers:	C23.888.248
Synonyms:	Cyanoses
Slim Mappings:	Signs and symptoms
Reference:	MedGen: D003490 MeSH: D003490 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants