Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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
..Small basal ganglia (HP:0012697)

Term ID:

12697

Name:

Small basal ganglia

Synonym:

Definition:

Decreased size of the basal ganglia.

Comments:

Reference:

HP:0012697

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)

Large basal ganglia (HP:0007048)

Neuronal loss in basal ganglia (HP:0200147)

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:0012697	HP:0012697	Small basal ganglia	0	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040283 - Occasional	116
HP:0012697	HP:0012697	Small basal ganglia	0	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040283 - Occasional
HP:0012697	HP:0012697	Small basal ganglia	0	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7	.	9
HP:0012697	HP:0012697	Small basal ganglia	0	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia	HP:0040284 - Very rare	2
HP:0012697	HP:0012697	Small basal ganglia	0	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia	HP:0040284 - Very rare	24
HP:0012697	HP:0012697	Small basal ganglia	0	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	HP:0040283 - Occasional
HP:0012697	HP:0012697	Small basal ganglia	0	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency	HP:0040283 - Occasional	32
HP:0012697	HP:0012697	Small basal ganglia	0	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type	HP:0040283 - Occasional	8
HP:0012697	HP:0012697	Small basal ganglia	0	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040283 - Occasional	7
HP:0012697	HP:0012697	Small basal ganglia	0	SLC19A3 CL E G H	80704	16266	ORPHA:263410	Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome	HP:0040281 - Very frequent	110
HP:0012697	HP:0012697	Small basal ganglia	0	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3		13
HP:0012697	HP:0012697	Small 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:0012697	HP:0012697	Small basal ganglia	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional	130

Genes (13) :ADAR ATP6 CNTNAP1 CYB5A CYB5R3 FDXR HIBCH NANS NUP62 SLC19A3 TBCK TUBB3 VPS13A

Diseases (10) :ORPHA:225154 OMIM:616286 ORPHA:621 ORPHA:543470 ORPHA:88639 OMIM:610442 ORPHA:263410 OMIM:616900 ORPHA:300570 ORPHA:2388

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

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