Human Phenotype Ontology

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:
Abnormal mitral valve morphology (HP:0001633)

Grandparent Node:
Cardiac valve calcification (HP:0005146)

Parent Node:
Mitral valve calcification (HP:0004382)

..Starting node
..Mitral annular calcification (HP:0005136)

Term ID:

5136

Name:

Mitral annular calcification

Synonym:

Premature calcification of mitral annulus

Definition:

Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus.

Comments:

Reference:

HP:0005136

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:0005136	HP:0005136	Mitral annular calcification	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome	.	1361

Genes (1) :FBN1

Diseases (1) :OMIM:154700

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