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 metencephalon morphology (HP:0011283)

Parent Node:
Abnormal cerebellum morphology (HP:0001317)

..Starting node
..Abnormal cerebellar cortex morphology (HP:0031422)

Term ID:

31422

Name:

Abnormal cerebellar cortex morphology

Synonym:

Abnormal morphology of the cerebellar cortex

Definition:

Any structural anomaly of the cortex of the cerebellum.

Comments:

Reference:

HP:0031422

Genes and Diseases:

Child Nodes:

........

Small cerebellar cortex (HP:0031423)

Sister Nodes:

Abnormal dentate nucleus morphology (HP:0100321)

Aplasia/Hypoplasia of the cerebellum (HP:0007360)

Ataxia (HP:0001251)

Cerebellar atrophy (HP:0001272)

Cerebellar calcifications (HP:0007352)

Cerebellar dysplasia (HP:0007033)

Cerebellar edema (HP:0030915)

Cerebellar gliosis (HP:0012698)

Cerebellar hemangioblastoma (HP:0006880)

Cerebellar malformation (HP:0002438)

Dysplastic gangliocytoma of the cerebellum (HP:0500009)

Enlarged cerebellum (HP:0012081)

Fusion of the cerebellar hemispheres (HP:0006899)

Olivopontocerebellar atrophy (HP:0002542)

Recurrent subcortical infarcts (HP:0007236)

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:0031422	HP:0031422	Abnormal cerebellar cortex morphology	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome		5
HP:0031422	HP:0031422	Abnormal cerebellar cortex morphology	0	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25	HP:0040282 - Frequent	60
HP:0031422	HP:0031422	Abnormal cerebellar cortex morphology	0	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent	464
HP:0031422	HP:0031422	Abnormal cerebellar cortex morphology	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome		271
HP:0031422	HP:0031422	Abnormal cerebellar cortex morphology	0	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent	113
HP:0031422	HP:0031423	Small cerebellar cortex	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional	5
HP:0031422	HP:0031423	Small cerebellar cortex	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional	271

Genes (5) :ATP6V1B2 PNPT1 POLG TBC1D24 TWNK

Diseases (3) :ORPHA:79500 ORPHA:101111 ORPHA:70595

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