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	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0005462	HP:0005462	Calcification of falx cerebri	0	ABCC6 CL E G H	368	177850	Pseudoxanthoma elasticum, forme fruste	177850	C1867450	OMIM	1	1666	57	603234
HP:0005462	HP:0005462	Calcification of falx cerebri	0	COL11A1 CL E G H	1301	154780	Marshall syndrome	154780	C0265235	OMIM	1	2253	2186	120280
HP:0005462	HP:0005462	Calcification of falx cerebri	0	DDR2 CL E G H	4921	271665	Spondylometaepiphyseal dysplasia short limb-hand type	271665	C1849011	OMIM	1	339	2731	191311
HP:0005462	HP:0005462	Calcification of falx cerebri	0	PTCH1 CL E G H	5727	77301				ORPHA	1	4487	9585	601309
HP:0005462	HP:0005462	Calcification of falx cerebri	0	PTCH1 CL E G H	5727	109400	Gorlin syndrome	109400	C0004779	OMIM	1	4487	9585	601309
HP:0005462	HP:0005462	Calcification of falx cerebri	0	PTCH2 CL E G H	8643	109400	Gorlin syndrome	109400	C0004779	OMIM	1	791	9586	603673
HP:0005462	HP:0005462	Calcification of falx cerebri	0	SUFU CL E G H	51684	109400	Gorlin syndrome	109400	C0004779	OMIM	1	1306	16466	607035
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (6) :ABCC6 COL11A1 DDR2 PTCH1 PTCH2 SUFU

Diseases (5) :177850 154780 271665 77301 109400

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.