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 subcortex morphology (HP:0010993)

Parent Node:
Abnormal basal ganglia morphology (HP:0002134)

..Starting node
..Dysgenesis of the basal ganglia (HP:0025102)

Term ID:

25102

Name:

Dysgenesis of the basal ganglia

Synonym:

Basal ganglia dysgenesis

Definition:

Structural abnormality of the basal ganglia related to defective development.

Comments:

Reference:

HP:0025102

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal basal ganglia MRI signal intensity (HP:0012751)

Abnormal corpus striatum morphology (HP:0010994)

Abnormal globus pallidus morphology (HP:0002453)

Abnormal substantia nigra morphology (HP:0045007)

Basal ganglia calcification (HP:0002135)

Basal ganglia cysts (HP:0006799)

Basal ganglia edema (HP:0025039)

Basal ganglia gliosis (HP:0006999)

Basal ganglia necrosis (HP:0012128)

Bilateral basal ganglia lesions (HP:0007146)

Cavitation of the basal ganglia (HP:0007007)

Hemiballismus (HP:0100248)

Large basal ganglia (HP:0007048)

Neuronal loss in basal ganglia (HP:0200147)

Small basal ganglia (HP:0012697)

Status cribrosum (HP:0025012)

Symmetric lesions of the basal ganglia (HP:0007039)

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:0025102	HP:0025102	Dysgenesis of the basal ganglia	0	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation		106
HP:0025102	HP:0025102	Dysgenesis of the basal ganglia	0	TUBB CL E G H	203068	20778	OMIM:615771	Cortical dysplasia, complex, with other brain malformations 6		14
HP:0025102	HP:0025102	Dysgenesis of the basal ganglia	0	TUBB2B CL E G H	347733	30829	ORPHA:300573	Polymicrogyria due to TUBB2B mutation	HP:0040283 - Occasional	39
HP:0025102	HP:0025102	Dysgenesis of the basal ganglia	0	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement		64

Genes (4) :TUBA1A TUBB TUBB2B TUBB3

Diseases (4) :ORPHA:171680 OMIM:615771 ORPHA:300573 OMIM:600638

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