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: Pathological Conditions, Anatomical (D020763)
..Starting node ..Hypertrophy (D006984)
Child Nodes:
........Cardiomegaly (D006332) 46
........Gigantomastia (C536821)
........Growth mental deficiency syndrome of Myhre (C537620)
........Hepatomegaly (D006529) 4
........Hypertrophia Musculorum Vera (C564152)
........Kocher-Debre-Semelaigne syndrome (C537211)
........Masticatory Muscles, Hypertrophy of (C563600)
........Myostatin-related muscle hypertrophy (C536106)
........Splenomegaly (D013163) 6
Sister Nodes:
..Accessory Atrioventricular Bundle (D058606)
..Agenesis of Corpus Callosum (D061085) 59
..Airway Remodeling (D056151)
..Alopecia (D000505) 61
..Atrial Remodeling (D064752)
..Atrophy (D001284) 18
..Blister (D001768) 3
..Calculi (D002137) 15
..Choristoma (D002828) 2
..Constriction, Pathologic (D003251) 9
..Cysts (D003560) 78
..Dilatation, Pathologic (D004108)
..Diverticulum (D004240) 7
..Facial Asymmetry (D005146) 8
..Fistula (D005402) 34
..Hernia (D006547) 73
..Hypertrophy (D006984) 62
..Leg Length Inequality (D007870)
..Leukoplakia (D007971) 2
..Nails, Malformed (D009264) 44
..Plaque, Amyloid (D058225) 1
..Plaque, Atherosclerotic (D058226)
..Polyps (D011127) 7
..Prolapse (D011391) 5
..Rupture, Spontaneous (D012422) 1
..Torsion Abnormality (D014102) 13
..Vascular Remodeling (D066253)
..Ventricular Remodeling (D020257)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	5518
Name:	Hypertrophy
Definition:	General increase in bulk of a part or organ due to CELL ENLARGEMENT and accumulation of FLUIDS AND SECRETIONS, not due to tumor formation, nor to an increase in the number of cells (HYPERPLASIA).
Alternative IDs:
ParentIDs:	MESH:D020763
TreeNumbers:	C23.300.775
Synonyms:	Hypertrophies
Slim Mappings:	Pathology (anatomical condition)
Reference:	MedGen: D006984 MeSH: D006984 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants