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:
Abnormality of cardiovascular system morphology (HP:0030680)

Grandparent Node:
Ectopic calcification (HP:0010766)

Parent Node:
Abnormal heart valve morphology (HP:0001654)

Parent Node:
Cardiovascular calcification (HP:0011915)

..Starting node
..Cardiac valve calcification (HP:0005146)

Term ID:

5146

Name:

Cardiac valve calcification

Synonym:

Calcifications of the cardiac valves

Definition:

Abnormal calcification of a cardiac valve.

Comments:

Reference:

HP:0005146

Genes and Diseases:

Child Nodes:

........

Aortic valve calcification (HP:0004380)

........

Mitral valve calcification (HP:0004382)

................... HP:0005136 Mitral annular calcification

........

Early progressive calcific cardiac valvular disease (HP:0006694)

Sister Nodes:

Myocardial calcification (HP:0006690)

Vascular calcification (HP:0004934)

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:0005146	HP:0005146	Cardiac valve calcification	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0005146	HP:0005146	Cardiac valve calcification	0	GATA5 CL E G H	140628	15802	ORPHA:402075	Familial bicuspid aortic valve		10
HP:0005146	HP:0005146	Cardiac valve calcification	0	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0005146	HP:0005146	Cardiac valve calcification	0	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC
HP:0005146	HP:0005146	Cardiac valve calcification	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0005146	HP:0005146	Cardiac valve calcification	0	HGD CL E G H	3081	4892	OMIM:203500	Alkaptonuria		77
HP:0005146	HP:0005146	Cardiac valve calcification	0	HGD CL E G H	3081	4892	ORPHA:56	Alkaptonuria		77
HP:0005146	HP:0005146	Cardiac valve calcification	0	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1		28
HP:0005146	HP:0005146	Cardiac valve calcification	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome		645
HP:0005146	HP:0005146	Cardiac valve calcification	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome		645
HP:0005146	HP:0005146	Cardiac valve calcification	0	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome		645
HP:0005146	HP:0005146	Cardiac valve calcification	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0005146	HP:0005146	Cardiac valve calcification	0	NKX2-5 CL E G H	1482	2488	ORPHA:402075	Familial bicuspid aortic valve		90
HP:0005146	HP:0005146	Cardiac valve calcification	0	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1		452
HP:0005146	HP:0005146	Cardiac valve calcification	0	NOTCH1 CL E G H	4851	7881	ORPHA:402075	Familial bicuspid aortic valve		452
HP:0005146	HP:0005146	Cardiac valve calcification	0	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis		7
HP:0005146	HP:0005146	Cardiac valve calcification	0	SMAD6 CL E G H	4091	6772	ORPHA:402075	Familial bicuspid aortic valve		33
HP:0005146	HP:0005146	Cardiac valve calcification	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome		83
HP:0005146	HP:0006694	Early progressive calcific cardiac valvular disease	1	CL E G H
HP:0005146	HP:0004382	Mitral valve calcification	1	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0005146	HP:0004380	Aortic valve calcification	1	GATA5 CL E G H	140628	15802	ORPHA:402075	Familial bicuspid aortic valve	HP:0040281 - Very frequent	10
HP:0005146	HP:0004380	Aortic valve calcification	1	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3	HP:0040283 - Occasional
HP:0005146	HP:0004382	Mitral valve calcification	1	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3	HP:0040283 - Occasional
HP:0005146	HP:0004380	Aortic valve calcification	1	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC	.
HP:0005146	HP:0004382	Mitral valve calcification	1	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC
HP:0005146	HP:0004380	Aortic valve calcification	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040282 - Frequent
HP:0005146	HP:0004382	Mitral valve calcification	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040282 - Frequent
HP:0005146	HP:0004382	Mitral valve calcification	1	HGD CL E G H	3081	4892	OMIM:203500	Alkaptonuria	.	77
HP:0005146	HP:0004382	Mitral valve calcification	1	HGD CL E G H	3081	4892	ORPHA:56	Alkaptonuria	HP:0040282 - Frequent	77
HP:0005146	HP:0004380	Aortic valve calcification	1	HGD CL E G H	3081	4892	OMIM:203500	Alkaptonuria	.	77
HP:0005146	HP:0004380	Aortic valve calcification	1	HGD CL E G H	3081	4892	ORPHA:56	Alkaptonuria	HP:0040282 - Frequent	77
HP:0005146	HP:0004382	Mitral valve calcification	1	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1	.	28
HP:0005146	HP:0004380	Aortic valve calcification	1	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1	.	28
HP:0005146	HP:0004380	Aortic valve calcification	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0005146	HP:0004380	Aortic valve calcification	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	645
HP:0005146	HP:0004382	Mitral valve calcification	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	645
HP:0005146	HP:0004382	Mitral valve calcification	1	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome	HP:0040281 - Very frequent	645
HP:0005146	HP:0004382	Mitral valve calcification	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0005146	HP:0004380	Aortic valve calcification	1	NKX2-5 CL E G H	1482	2488	ORPHA:402075	Familial bicuspid aortic valve	HP:0040281 - Very frequent	90
HP:0005146	HP:0004380	Aortic valve calcification	1	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1		452
HP:0005146	HP:0004380	Aortic valve calcification	1	NOTCH1 CL E G H	4851	7881	ORPHA:402075	Familial bicuspid aortic valve	HP:0040281 - Very frequent	452
HP:0005146	HP:0004382	Mitral valve calcification	1	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040284 - Very rare	7
HP:0005146	HP:0004380	Aortic valve calcification	1	SMAD6 CL E G H	4091	6772	ORPHA:402075	Familial bicuspid aortic valve	HP:0040281 - Very frequent	33
HP:0005146	HP:0004380	Aortic valve calcification	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	83
HP:0005146	HP:0004382	Mitral valve calcification	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	83
HP:0005146	HP:0033538	Aortic annulus calcification	2	CL E G H
HP:0005146	HP:0033642	Mitral valve leaflet calcification	2	CL E G H
HP:0005146	HP:0033641	Aortic valve leaflet calcification	2	CL E G H
HP:0005146	HP:0005136	Mitral annular calcification	2	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome	.	1361

Genes (12) :FBN1 GATA5 GBA1 HGD IFIH1 LMNA MTX2 NKX2-5 NOTCH1 SLC34A2 SMAD6 ZMPSTE24

Diseases (14) :OMIM:154700 ORPHA:402075 ORPHA:77261 OMIM:231005 ORPHA:2072 OMIM:203500 ORPHA:56 OMIM:182250 ORPHA:79474 ORPHA:740 ORPHA:363618 OMIM:619127 OMIM:109730 ORPHA:60025

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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