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:
Abnormal cerebral morphology (HP:0002060)

Grandparent Node:
Ectopic calcification (HP:0010766)

Parent Node:
Cerebral calcification (HP:0002514)

..Starting node
..Intracerebral periventricular calcifications (HP:0007229)

Term ID:

7229

Name:

Intracerebral periventricular calcifications

Synonym:

Definition:

The presence of calcium deposition in the cerebral white matter surrounding the cerebral ventricles.

Comments:

Reference:

HP:0007229

Genes and Diseases:

Child Nodes:

Sister Nodes:

Basal ganglia calcification (HP:0002135)

Bilateral intracerebral calcifications (HP:0005671)

Calcification of falx cerebri (HP:0005462)

Choroid plexus calcification (HP:0006960)

Congenital intracerebral calcification (HP:0006906)

Diffuse cerebral calcification (HP:0005849)

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:0007229	HP:0007229	Intracerebral periventricular calcifications	0	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	HP:0040283 - Occasional	101
HP:0007229	HP:0007229	Intracerebral periventricular calcifications	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.	101
HP:0007229	HP:0007229	Intracerebral periventricular calcifications	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0007229	HP:0007229	Intracerebral periventricular calcifications	0	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin	HP:0040283 - Occasional	255
HP:0007229	HP:0007229	Intracerebral periventricular calcifications	0	SNORD118 CL E G H	727676	32952	ORPHA:542310	Leukoencephalopathy with calcifications and cysts		6
HP:0007229	HP:0007229	Intracerebral periventricular calcifications	0	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1		56

Genes (5) :CPT2 IFIH1 SLC2A1 SNORD118 TREX1

Diseases (6) :ORPHA:228308 OMIM:608836 OMIM:615846 ORPHA:168577 ORPHA:542310 OMIM:225750

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