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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

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Disease Browser
Parent Node: Attention Deficit and Disruptive Behavior Disorders (D019958)
..Starting node ..Attention Deficit Disorder with Hyperactivity (D001289)
Child Nodes:
........Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder (C564427)
Sister Nodes:
..Attention Deficit Disorder with Hyperactivity (D001289) 1
..Conduct Disorder (D019955)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1052

Name:

Attention Deficit Disorder with Hyperactivity

Definition:

A behavior disorder originating in childhood in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity. Although most individuals have symptoms of both inattention and hyperactivity-impulsivity, one or the other pattern may be predominant. The disorder is more frequent in males than females. Onset is in childhood. Symptoms often attenuate during late adolescence although a minority experience the full complement of symptoms into mid-adulthood. (From DSM-IV)

Alternative IDs:

ParentIDs:

MESH:D019958

TreeNumbers:

F03.550.150.150

Synonyms:

Slim Mappings:

Mental disorder

Reference:

MedGen: D001289
MeSH: D001289
OMIM: 143465;

Genes: DRD4; DRD5; TPH2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0007018	Attention deficit hyperactivity disorder
3	HP:0000752	Hyperactivity

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_004992.3(MECP2):c.1315G>A (p.Ala439Thr)	4204	MECP2	Benign;Uncertain significance	61753973	RCV000132986; RCV000170237; RCV000146352; RCV000170236;	N	MedGen:C1263846,OMIM:143465,SNOMED CT:406506008; MedGen:C1845336,OMIM:300496; MedGen:C1968550,OMIM:300055,ORPHA:3077; MedGen:CN169374	X	153295964	153295964	NM_004992.3:c.1315G>A	NP_004983.1:p.Ala439Thr	NC_000023.10:g.153295964C>A,NC_000023.10:g.153295964C>T	-	C1263846 143465 Attention deficit hyperactivity disorder; C1845336 300496 Autism, susceptibility to, X-linked 3; C1968550 300055 Mental retardation, X-linked, syndromic 13; CN169374 not specified
NM_001110792.1(MECP2):c.1200_1220del21insCTGAGCCCCAGGACTTGAGCA (p.Pro401Ter)	4204	MECP2	Pathogenic	786205019	RCV000170150; RCV000170149;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:C1263846,OMIM:143465,SNOMED CT:406506008	X	153296095	153296115	NM_001110792.1:c.1200_1220del21insCTGAGCCCCAGGACTTGAGCA	NP_001104262.1:p.Pro401Ter	NC_000023.10:g.153296095_153296115del21insTGCTCAAGTCCTGGGGCTCAG	-	C1263846 143465 Attention deficit hyperactivity disorder; C0035372 312750 Rett syndrome