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 cerebellum morphology (HP:0001317)

Grandparent Node:
Ectopic calcification (HP:0010766)

Parent Node:
Abnormal dentate nucleus morphology (HP:0100321)

Parent Node:
Cerebellar calcifications (HP:0007352)

..Starting node
..Dense calcifications in the cerebellar dentate nucleus (HP:0002461)

Term ID:

2461

Name:

Dense calcifications in the cerebellar dentate nucleus

Synonym:

Definition:

Comments:

Reference:

HP:0002461

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0002461	HP:0002461	Dense calcifications in the cerebellar dentate nucleus	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040281 - Very frequent	199
HP:0002461	HP:0002461	Dense calcifications in the cerebellar dentate nucleus	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040281 - Very frequent	55
HP:0002461	HP:0002461	Dense calcifications in the cerebellar dentate nucleus	0	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	9
HP:0002461	HP:0002461	Dense calcifications in the cerebellar dentate nucleus	0	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	28
HP:0002461	HP:0002461	Dense calcifications in the cerebellar dentate nucleus	0	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	70
HP:0002461	HP:0002461	Dense calcifications in the cerebellar dentate nucleus	0	SNORD118 CL E G H	727676	32952	ORPHA:542310	Leukoencephalopathy with calcifications and cysts		6

Genes (6) :ERCC6 ERCC8 PDGFB PDGFRB SLC20A2 SNORD118

Diseases (3) :ORPHA:90324 OMIM:213600 ORPHA:542310

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