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:
Abnormal cerebral white matter morphology (HP:0002500)

Parent Node:
Cerebral calcification (HP:0002514)

..Starting node
..Subcortical white matter calcifications (HP:0007346)

Term ID:

7346

Name:

Subcortical white matter calcifications

Synonym:

Definition:

Comments:

Reference:

HP:0007346

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)

Intracerebral periventricular calcifications (HP:0007229)

Meningeal calcification (HP:0100250)

Midline brain calcifications (HP:0007045)

Nonarteriosclerotic cerebral calcification (HP:0007238)

Pituitary calcification (HP:0010513)

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:0007346	HP:0007346	Subcortical white matter calcifications	0	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040281 - Very frequent	20
HP:0007346	HP:0007346	Subcortical white matter calcifications	0	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040281 - Very frequent	199
HP:0007346	HP:0007346	Subcortical white matter calcifications	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040281 - Very frequent	199
HP:0007346	HP:0007346	Subcortical white matter calcifications	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.	199
HP:0007346	HP:0007346	Subcortical white matter calcifications	0	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040281 - Very frequent	55
HP:0007346	HP:0007346	Subcortical white matter calcifications	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040281 - Very frequent	55
HP:0007346	HP:0007346	Subcortical white matter calcifications	0	SNORD118 CL E G H	727676	32952	ORPHA:542310	Leukoencephalopathy with calcifications and cysts		6

Genes (4) :ERCC1 ERCC6 ERCC8 SNORD118

Diseases (4) :ORPHA:90322 ORPHA:90324 OMIM:133540 ORPHA:542310

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