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 choroid plexus morphology (HP:0007376)

Parent Node:
Cerebral calcification (HP:0002514)

..Starting node
..Choroid plexus calcification (HP:0006960)

Term ID:

6960

Name:

Choroid plexus calcification

Synonym:

Calcified choroid plexus

Definition:

The presence of calcium deposition in the choroid plexus.

Comments:

Reference:

HP:0006960

Genes and Diseases:

Child Nodes:

Sister Nodes:

Basal ganglia calcification (HP:0002135)

Bilateral intracerebral calcifications (HP:0005671)

Calcification of falx cerebri (HP:0005462)

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:0006960	HP:0006960	Choroid plexus calcification	0	CTSC CL E G H	1075	2528	OMIM:245000	Papillon-Lefevre syndrome	.	50
HP:0006960	HP:0006960	Choroid plexus calcification	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040282 - Frequent	101
HP:0006960	HP:0006960	Choroid plexus calcification	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040282 - Frequent	101
HP:0006960	HP:0006960	Choroid plexus calcification	0	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA	.	101
HP:0006960	HP:0006960	Choroid plexus calcification	0	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC	.	101

Genes (2) :CTSC GNAS

Diseases (5) :OMIM:245000 ORPHA:79443 ORPHA:79444 OMIM:103580 OMIM:612462

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