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:
Cerebellar malformation (HP:0002438)

Parent Node:
Abnormal cerebellar vermis morphology (HP:0002334)

..Starting node
..Dysgenesis of the cerebellar vermis (HP:0002195)

Term ID:

2195

Name:

Dysgenesis of the cerebellar vermis

Synonym:

Definition:

Defective development of the vermis of cerebellum.

Comments:

Reference:

HP:0002195

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia/Hypoplasia of the cerebellar vermis (HP:0006817)

Cerebellar vermis atrophy (HP:0006855)

Disorganization of the anterior cerebellar vermis (HP:0007065)

Dysmorphic inferior cerebellar vermis (HP:0012460)

Loss of Purkinje cells in the cerebellar vermis (HP:0007001)

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:0002195	HP:0002195	Dysgenesis of the cerebellar vermis	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0002195	HP:0002195	Dysgenesis of the cerebellar vermis	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1	.	111
HP:0002195	HP:0002195	Dysgenesis of the cerebellar vermis	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0002195	HP:0002195	Dysgenesis of the cerebellar vermis	0	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0002195	HP:0002195	Dysgenesis of the cerebellar vermis	0	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS		1
HP:0002195	HP:0002195	Dysgenesis of the cerebellar vermis	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0002195	HP:0002195	Dysgenesis of the cerebellar vermis	0	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.	45

Genes (7) :CSPP1 INPP5E KIAA0586 KIAA0753 ODC1 RAC1 TMEM216

Diseases (6) :ORPHA:397715 OMIM:213300 OMIM:619479 OMIM:619075 OMIM:617751 OMIM:608091

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