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 glial cell morphology (HP:0100705)

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

Parent Node:
Gliosis (HP:0002171)

..Starting node
..Substantia nigra gliosis (HP:0011960)

Term ID:

11960

Name:

Substantia nigra gliosis

Synonym:

Definition:

Focal proliferation of glial cells in the substantia nigra.

Comments:

Reference:

HP:0011960

Genes and Diseases:

Child Nodes:

Sister Nodes:

Basal ganglia gliosis (HP:0006999)

Cerebellar gliosis (HP:0012698)

Hypothalamic gliosis (HP:0025037)

Myelin-dependent gliosis (HP:0006990)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0011960	HP:0011960	Substantia nigra gliosis	0	ATXN3 CL E G H	4287	276238				ORPHA	1	65	7106	607047
HP:0011960	HP:0011960	Substantia nigra gliosis	0	ATXN3 CL E G H	4287	276244				ORPHA	1	65	7106	607047
HP:0011960	HP:0011960	Substantia nigra gliosis	0	ATXN3 CL E G H	4287	276241				ORPHA	1	65	7106	607047
HP:0011960	HP:0011960	Substantia nigra gliosis	0	FBXO7 CL E G H	25793	171695				ORPHA	1	243	13586	605648
HP:0011960	HP:0011960	Substantia nigra gliosis	0	NR4A2 CL E G H	4929	168600	Parkinson disease, late-onset	168600	C3160718	OMIM	1	143	7981	601828
HP:0011960	HP:0011960	Substantia nigra gliosis	0	PRKN CL E G H	5071	600116	Parkinson disease 2	600116	C1868675	OMIM	1	705	8607	602544
HP:0011960	HP:0011960	Substantia nigra gliosis	0	SNCA CL E G H	6622	171695				ORPHA	1	193	11138	163890
HP:0011960	HP:0011960	Substantia nigra gliosis	0	SNCAIP CL E G H	9627	168600	Parkinson disease, late-onset	168600	C3160718	OMIM	1	160	11139	603779
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (6) :ATXN3 FBXO7 NR4A2 PRKN SNCA SNCAIP

Diseases (6) :276241 276244 276238 171695 168600 600116

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.