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 basal ganglia morphology (HP:0002134)

Parent Node:
Abnormal globus pallidus morphology (HP:0002453)

..Starting node
..Eye of the tiger anomaly of globus pallidus (HP:0002454)

Term ID:

2454

Name:

Eye of the tiger anomaly of globus pallidus

Synonym:

Definition:

The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity of the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance. The sign is thought to represent iron accumulation in the globus pallidus.

Comments:

Reference:

HP:0002454

Genes and Diseases:

Child Nodes:

Sister Nodes:

Globus pallidus calcification (HP:0031627)

obsolete Iron accumulation in globus pallidus (HP:0012677)

Pallidal degeneration (HP:0007132)

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:0002454	HP:0002454	Eye of the tiger anomaly of globus pallidus	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4		114
HP:0002454	HP:0002454	Eye of the tiger anomaly of globus pallidus	0	COASY CL E G H	80347	29932	ORPHA:397725	COASY protein-associated neurodegeneration	HP:0040281 - Very frequent	16
HP:0002454	HP:0002454	Eye of the tiger anomaly of globus pallidus	0	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency	HP:0040282 - Frequent	82
HP:0002454	HP:0002454	Eye of the tiger anomaly of globus pallidus	0	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35		76
HP:0002454	HP:0002454	Eye of the tiger anomaly of globus pallidus	0	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy		33
HP:0002454	HP:0002454	Eye of the tiger anomaly of globus pallidus	0	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0002454	HP:0002454	Eye of the tiger anomaly of globus pallidus	0	PANK2 CL E G H	80025	15894	ORPHA:216866	Classic pantothenate kinase-associated neurodegeneration	HP:0040282 - Frequent	55
HP:0002454	HP:0002454	Eye of the tiger anomaly of globus pallidus	0	PANK2 CL E G H	80025	15894	OMIM:607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration	.	55
HP:0002454	HP:0002454	Eye of the tiger anomaly of globus pallidus	0	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1	.	55
HP:0002454	HP:0002454	Eye of the tiger anomaly of globus pallidus	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy		133
HP:0002454	HP:0002454	Eye of the tiger anomaly of globus pallidus	0	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29

Genes (9) :C19ORF12 COASY DLAT FA2H FTL NUDT2 PANK2 PLA2G6 VPS41

Diseases (11) :OMIM:614298 ORPHA:397725 ORPHA:79244 ORPHA:171629 ORPHA:157846 OMIM:619844 ORPHA:216866 OMIM:607236 OMIM:234200 ORPHA:35069 OMIM:619389

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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