Human Phenotype Ontology

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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

Grandparent Node:
Behavioral abnormality (HP:0000708)

Parent Node:
Addictive behavior (HP:0030858)

..Starting node
..Alcoholism (HP:0030955)

Term ID:

30955

Name:

Alcoholism

Synonym:

Definition:

An addictive behavior defined as drinking excessive amounts of alcohol over a long period of time, having difficulty reducing the amount of alcohol consumed, strongly desiring alcohol and experiencing withdrawal symptoms when not drinking alcohol.

Comments:

Reference:

HP:0030955

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030955	HP:0030955	Alcoholism	0	ADH1B CL E G H	125	250	OMIM:103780	Alcohol dependence	.	2
HP:0030955	HP:0030955	Alcoholism	0	ADH1C CL E G H	126	251	OMIM:103780	Alcohol dependence	.	4
HP:0030955	HP:0030955	Alcoholism	0	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	101
HP:0030955	HP:0030955	Alcoholism	0	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	4
HP:0030955	HP:0030955	Alcoholism	0	GABRA2 CL E G H	2555	4076	OMIM:103780	Alcohol dependence	.	4
HP:0030955	HP:0030955	Alcoholism	0	HTR2A CL E G H	3356	5293	OMIM:103780	Alcohol dependence	.	4
HP:0030955	HP:0030955	Alcoholism	0	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040283 - Occasional	12
HP:0030955	HP:0030955	Alcoholism	0	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	4
HP:0030955	HP:0030955	Alcoholism	0	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis		68
HP:0030955	HP:0030955	Alcoholism	0	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional
HP:0030955	HP:0030955	Alcoholism	0	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	12
HP:0030955	HP:0030955	Alcoholism	0	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional
HP:0030955	HP:0030955	Alcoholism	0	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	3
HP:0030955	HP:0030955	Alcoholism	0	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	134
HP:0030955	HP:0030955	Alcoholism	0	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	2
HP:0030955	HP:0030955	Alcoholism	0	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040283 - Occasional	1
HP:0030955	HP:0030955	Alcoholism	0	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	110
HP:0030955	HP:0030955	Alcoholism	0	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	12
HP:0030955	HP:0030955	Alcoholism	0	TAS2R16 CL E G H	50833	14921	OMIM:103780	Alcohol dependence	.	1
HP:0030955	HP:0030955	Alcoholism	0	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional	20
HP:0030955	HP:0030955	Alcoholism	0	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	22
HP:0030955	HP:0030955	Alcoholism	0	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional	6
HP:0030955	HP:0030955	Alcoholism	0	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional	3
HP:0030955	HP:0030955	Alcoholism	0	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional	2
HP:0030955	HP:0030955	Alcoholism	0	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional	5
HP:0030955	HP:0030955	Alcoholism	0	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	1

Genes (26) :ADH1B ADH1C BCOR FIP1L1 GABRA2 HTR2A HTT IRF2BP2 LEMD3 NABP1 NPM1 NUMA1 PML PRKAR1A RARA SLC2A3 STAT3 STAT5B TAS2R16 TBK1 TBL1XR1 TICAM1 TLR3 TRAF3 UNC93B1 ZBTB16

Diseases (5) :OMIM:103780 ORPHA:520 ORPHA:399 ORPHA:166119 ORPHA:1930

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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