Human Phenotype Ontology

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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

Grandparent Node:
Mode of inheritance (HP:0000005)

Parent Node:
Multifactorial inheritance (HP:0001426)

..Starting node
..Polygenic inheritance (HP:0010982)

Term ID:

10982

Name:

Polygenic inheritance

Synonym:

Definition:

A type of multifactorial inheritance governed by the simultaneous action of many (more than three) gene loci.

Comments:

Reference:

HP:0010982

Genes and Diseases:

Child Nodes:

Sister Nodes:

Digenic inheritance (HP:0010984)

Oligogenic inheritance (HP:0010983)

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:0010982	HP:0010982	Polygenic inheritance	0	A2ML1 CL E G H	144568	23336	OMIM:166760	Otitis media, susceptibility to		120
HP:0010982	HP:0010982	Polygenic inheritance	0	ABCG8 CL E G H	64241	13887	OMIM:611465	GALLBLADDER DISEASE 4; GBD4		76
HP:0010982	HP:0010982	Polygenic inheritance	0	ADRB2 CL E G H	154	286	OMIM:601665	OBESITY	.	5
HP:0010982	HP:0010982	Polygenic inheritance	0	ADRB3 CL E G H	155	288	OMIM:601665	OBESITY	.	1
HP:0010982	HP:0010982	Polygenic inheritance	0	AGRP CL E G H	181	330	OMIM:601665	OBESITY	.	1
HP:0010982	HP:0010982	Polygenic inheritance	0	APOL1 CL E G H	8542	618	OMIM:612551	Focal segmental glomerulosclerosis 4, susceptibility to	.	3
HP:0010982	HP:0010982	Polygenic inheritance	0	BAX CL E G H	581	959	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.	4
HP:0010982	HP:0010982	Polygenic inheritance	0	BCR CL E G H	613	1014	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.	5
HP:0010982	HP:0010982	Polygenic inheritance	0	BMP4 CL E G H	652	1071	OMIM:600625	OROFACIAL CLEFT 11; OFC11		38
HP:0010982	HP:0010982	Polygenic inheritance	0	CARTPT CL E G H	9607	24323	OMIM:601665	OBESITY	.	1
HP:0010982	HP:0010982	Polygenic inheritance	0	CFH CL E G H	3075	4883	OMIM:610698	Macular degeneration, age-related, 4	.	86
HP:0010982	HP:0010982	Polygenic inheritance	0	CST3 CL E G H	1471	2475	OMIM:611953	Macular degeneration, age-related, 11	.	3
HP:0010982	HP:0010982	Polygenic inheritance	0	ENPP1 CL E G H	5167	3356	OMIM:601665	OBESITY	.	151
HP:0010982	HP:0010982	Polygenic inheritance	0	FKBP5 CL E G H	2289	3721	OMIM:608516	Major depressive disorder		2
HP:0010982	HP:0010982	Polygenic inheritance	0	FLT3 CL E G H	2322	3765	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.	61
HP:0010982	HP:0010982	Polygenic inheritance	0	GHRL CL E G H	51738	18129	OMIM:601665	OBESITY	.	4
HP:0010982	HP:0010982	Polygenic inheritance	0	GNB1 CL E G H	2782	4396	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.	12
HP:0010982	HP:0010982	Polygenic inheritance	0	HTR2A CL E G H	3356	5293	OMIM:608516	Major depressive disorder		4
HP:0010982	HP:0010982	Polygenic inheritance	0	IRF6 CL E G H	3664	6121	OMIM:608864	Orofacial cleft 6, susceptibility to	.	99
HP:0010982	HP:0010982	Polygenic inheritance	0	NBN CL E G H	4683	7652	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.	706
HP:0010982	HP:0010982	Polygenic inheritance	0	NLRP1 CL E G H	22861	14374	OMIM:606579	Vitiligo-Associated multiple autoimmune disease susceptibility 1	.	37
HP:0010982	HP:0010982	Polygenic inheritance	0	NR0B2 CL E G H	8431	7961	OMIM:601665	OBESITY	.	4
HP:0010982	HP:0010982	Polygenic inheritance	0	NUP214 CL E G H	8021	8064	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.	1
HP:0010982	HP:0010982	Polygenic inheritance	0	POMC CL E G H	5443	9201	OMIM:601665	OBESITY	.	27
HP:0010982	HP:0010982	Polygenic inheritance	0	PPARG CL E G H	5468	9236	OMIM:609338	CAROTID INTIMAL MEDIAL THICKNESS 1		42
HP:0010982	HP:0010982	Polygenic inheritance	0	PPARG CL E G H	5468	9236	OMIM:601665	OBESITY	.	42
HP:0010982	HP:0010982	Polygenic inheritance	0	SDC3 CL E G H	9672	10660	OMIM:601665	OBESITY	.	2
HP:0010982	HP:0010982	Polygenic inheritance	0	SERPINH1 CL E G H	871	1546	OMIM:610504	Preterm premature rupture of the membranes	.	52
HP:0010982	HP:0010982	Polygenic inheritance	0	STOX1 CL E G H	219736	23508	OMIM:609404	Preeclampsia/eclampsia 4		2
HP:0010982	HP:0010982	Polygenic inheritance	0	TAL1 CL E G H	6886	11556	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.
HP:0010982	HP:0010982	Polygenic inheritance	0	TAL2 CL E G H	6887	11557	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.
HP:0010982	HP:0010982	Polygenic inheritance	0	TP53 CL E G H	7157	11998	OMIM:607107	Nasopharyngeal carcinoma	.	911
HP:0010982	HP:0010982	Polygenic inheritance	0	TPH2 CL E G H	121278	20692	OMIM:608516	Major depressive disorder		31
HP:0010982	HP:0010982	Polygenic inheritance	0	UCP3 CL E G H	7352	12519	OMIM:601665	OBESITY	.	6

Genes (33) :A2ML1 ABCG8 ADRB2 ADRB3 AGRP APOL1 BAX BCR BMP4 CARTPT CFH CST3 ENPP1 FKBP5 FLT3 GHRL GNB1 HTR2A IRF6 NBN NLRP1 NR0B2 NUP214 POMC PPARG SDC3 SERPINH1 STOX1 TAL1 TAL2 TP53 TPH2 UCP3

Diseases (15) :OMIM:166760 OMIM:611465 OMIM:601665 OMIM:612551 OMIM:613065 OMIM:600625 OMIM:610698 OMIM:611953 OMIM:608516 OMIM:608864 OMIM:606579 OMIM:609338 OMIM:610504 OMIM:609404 OMIM:607107

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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