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 cerebral morphology (HP:0002060)

Grandparent Node:
Ectopic calcification (HP:0010766)

Parent Node:
Abnormality of the falx cerebri (HP:0010653)

Parent Node:
Cerebral calcification (HP:0002514)

..Starting node
..Calcification of falx cerebri (HP:0005462)

Term ID:

5462

Name:

Calcification of falx cerebri

Synonym:

Definition:

The presence of calcium deposition in the falx cerebri.

Comments:

Reference:

HP:0005462

Genes and Diseases:

Child Nodes:

Sister Nodes:

Basal ganglia calcification (HP:0002135)

Bilateral intracerebral calcifications (HP:0005671)

Choroid plexus calcification (HP:0006960)

Congenital intracerebral calcification (HP:0006906)

Diffuse cerebral calcification (HP:0005849)

Intracerebral periventricular calcifications (HP:0007229)

Meningeal calcification (HP:0100250)

Midline brain calcifications (HP:0007045)

Nonarteriosclerotic cerebral calcification (HP:0007238)

Pituitary calcification (HP:0010513)

Subcortical white matter calcifications (HP:0007346)

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:0005462	HP:0005462	Calcification of falx cerebri	0	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste	.	415
HP:0005462	HP:0005462	Calcification of falx cerebri	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.	215
HP:0005462	HP:0005462	Calcification of falx cerebri	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.	45
HP:0005462	HP:0005462	Calcification of falx cerebri	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0005462	HP:0005462	Calcification of falx cerebri	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040281 - Very frequent	665
HP:0005462	HP:0005462	Calcification of falx cerebri	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0005462	HP:0005462	Calcification of falx cerebri	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124

Genes (6) :ABCC6 COL11A1 DDR2 PTCH1 PTCH2 SUFU

Diseases (5) :OMIM:177850 OMIM:154780 OMIM:271665 OMIM:109400 ORPHA:77301

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