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: Mental Disorders Diagnosed in Childhood (D019952)
Parent Node: Neurobehavioral Manifestations (D019954)
..Starting node ..Communication Disorders (D003147)
Child Nodes:
........Language Disorders (D007806) 48
........Learning Disorders (D007859) 12
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:	2544
Name:	Communication Disorders
Definition:	Disorders of verbal and nonverbal communication caused by receptive or expressive LANGUAGE DISORDERS, cognitive dysfunction (e.g., MENTAL RETARDATION), psychiatric conditions, and HEARING DISORDERS.
Alternative IDs:
ParentIDs:	MESH:D019952\|MESH:D019954
TreeNumbers:	C10.597.606.150 \|C23.888.592.604.150 \|F03.550.350
Synonyms:	Acquired Communication Disorder \|Acquired Communication Disorders \|Childhood Communication Disorder \|Childhood Communication Disorders \|Communication Disabilities \|Communication Disability \|Communication Disorder \|Communication Disorder, Acquired \|Communication
Slim Mappings:	Mental disorder\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: D003147 MeSH: D003147 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants