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
..Large basal ganglia (HP:0007048)

Term ID:

7048

Name:

Large basal ganglia

Synonym:

Definition:

Increased size of the basal ganglia.

Comments:

Reference:

HP:0007048

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)

Dysgenesis of the basal ganglia (HP:0025102)

Hemiballismus (HP:0100248)

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:0007048	HP:0007048	Large basal ganglia	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.	168
HP:0007048	HP:0007048	Large basal ganglia	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional	64
HP:0007048	HP:0007048	Large basal ganglia	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome	HP:0040284 - Very rare	362
HP:0007048	HP:0007048	Large basal ganglia	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional	362
HP:0007048	HP:0007048	Large basal ganglia	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional	362

Genes (3) :ATR TUBB3 ZEB2

Diseases (5) :OMIM:210600 ORPHA:300570 OMIM:235730 ORPHA:261552 ORPHA:261537

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