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:
Abnormality of brain morphology (HP:0012443)

Parent Node:
Abnormal substantia nigra morphology (HP:0045007)

Parent Node:
Iron accumulation in brain (HP:0012675)

..Starting node
..Iron accumulation in substantia nigra (HP:0012678)

Term ID:

12678

Name:

Iron accumulation in substantia nigra

Synonym:

Definition:

An anomalous build up of iron (Fe) in the substantia nigra.

Comments:

Reference:

HP:0012678

Genes and Diseases:

Child Nodes:

Sister Nodes:

obsolete Iron accumulation in globus pallidus (HP:0012677)

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:0012678	HP:0012678	Iron accumulation in substantia nigra	0	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040282 - Frequent	33
HP:0012678	HP:0012678	Iron accumulation in substantia nigra	0	TBCE CL E G H	6905	11582	ORPHA:496756	Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome	HP:0040283 - Occasional	52
HP:0012678	HP:0012678	Iron accumulation in substantia nigra	0	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0012678	HP:0012678	Iron accumulation in substantia nigra	0	WDR45 CL E G H	11152	28912	ORPHA:329284	Beta-propeller protein-associated neurodegeneration	HP:0040282 - Frequent	51

Genes (4) :FTL TBCE VPS41 WDR45

Diseases (4) :ORPHA:157846 ORPHA:496756 OMIM:619389 ORPHA:329284

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