Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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: Neurobehavioral Manifestations (D019954)
..Starting node ..Catatonia (D002389)
Child Nodes:
........Presenile dementia, Kraepelin type (C535273)
Sister Nodes:
..Anhedonia (D059445)
..Apraxias (D001072) 10
..Catatonia (D002389) 1
..Communication Disorders (D003147) 57
..Confusion (D003221) 2
..Consciousness Disorders (D003244) 11
..Intellectual Disability (D008607) 579
..Lethargy (D053609)
..Memory Disorders (D008569) 7
..Perceptual Disorders (D010468) 13
..Psychomotor Disorders (D011596) 34
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	1871
Name:	Catatonia
Definition:	A neuropsychiatric disorder characterized by one or more of the following essential features: immobility, mutism, negativism (active or passive refusal to follow commands), mannerisms, stereotypies, posturing, grimacing, excitement, echolalia, echopraxia, muscular rigidity, and stupor; sometimes punctuated by sudden violent outbursts, panic, or hallucinations. This condition may be associated with psychiatric illnesses (e.g., SCHIZOPHRENIA; MOOD DISORDERS) or organic disorders (NEUROLEPTIC MALIGNANT SYNDROME; ENCEPHALITIS, etc.). (From DSM-IV, 4th ed, 1994; APA, Thesaurus of Psychological Index Terms, 1994)
Alternative IDs:
ParentIDs:	MESH:D019954
TreeNumbers:	C10.597.606.115 \|C23.888.592.604.115
Synonyms:	Catatonia, Lethal \|Catatonia, Malignant \|Catatonia, Organic \|Catatonias \|Catatonia, Schizophreniform \|Catatonias, Lethal \|Catatonias, Malignant \|Catatonias, Organic \|Catatonias, Schizophreniform \|Catatonic Disorder, Organic \|Catatonic Disorders, Organic \|Lethal Cat
Slim Mappings:	Nervous system disease\|Signs and symptoms
Reference:	MedGen: D002389 MeSH: D002389 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants