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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: Primary Dysautonomias (D054969)
..Starting node ..Pure Autonomic Failure (D054970)
Child Nodes:
Sister Nodes:
..Acute cholinergic dysautonomia (C535672)
..Dysautonomia like disorder (C535728)
..Dysautonomia, Familial (D004402) 1
..Multiple System Atrophy (D019578) 21
..Orthostatic Intolerance (D054971) 8
..Pure Autonomic Failure (D054970)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	9507
Name:	Pure Autonomic Failure
Definition:	A degenerative disease of the AUTONOMIC NERVOUS SYSTEM that is characterized by idiopathic ORTHOSTATIC HYPOTENSION and a greatly reduced level of CATECHOLAMINES. No other neurological deficits are present.
Alternative IDs:
ParentIDs:	MESH:D054969
TreeNumbers:	C10.177.575.650
Synonyms:	Autonomic Failure, Pure \|Bradbury Eggleston Syndrome \|Bradbury-Eggleston Syndrome \|Syndrome, Bradbury-Eggleston
Slim Mappings:	Nervous system disease
Reference:	MedGen: D054970 MeSH: D054970 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants