Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal glial cell morphology (HP:0100705)help
Parent Node:
expand
Abnormal substantia nigra morphology (HP:0045007)help
Parent Node:
expand
Gliosis (HP:0002171)help
..Starting node
..expand
Substantia nigra gliosis (HP:0011960)help
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: 
..expandBasal ganglia gliosis (HP:0006999) help
..expandCerebellar gliosis (HP:0012698) help
..expandHypothalamic gliosis (HP:0025037) help
..expandMyelin-dependent gliosis (HP:0006990) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011960HP:0011960Substantia nigra gliosis0ADH1C CL E G H126251OMIM:168600Parkinson disease, late-onset.4
HP:0011960HP:0011960Substantia nigra gliosis0ATXN2 CL E G H631110555OMIM:168600Parkinson disease, late-onset.11
HP:0011960HP:0011960Substantia nigra gliosis0ATXN3 CL E G H42877106ORPHA:276238Machado-Joseph disease type 1HP:0040282 - Frequent14
HP:0011960HP:0011960Substantia nigra gliosis0ATXN3 CL E G H42877106ORPHA:276241Machado-Joseph disease type 2HP:0040282 - Frequent14
HP:0011960HP:0011960Substantia nigra gliosis0ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 3HP:0040282 - Frequent14
HP:0011960HP:0011960Substantia nigra gliosis0ATXN8OS CL E G H631510561OMIM:168600Parkinson disease, late-onset.1
HP:0011960HP:0011960Substantia nigra gliosis0FBXO7 CL E G H2579313586ORPHA:171695Parkinsonian-pyramidal syndromeHP:0040282 - Frequent36
HP:0011960HP:0011960Substantia nigra gliosis0GBA1 CL E G H26294177OMIM:168600Parkinson disease, late-onset.
HP:0011960HP:0011960Substantia nigra gliosis0GLUD2 CL E G H27474336OMIM:168600Parkinson disease, late-onset.1
HP:0011960HP:0011960Substantia nigra gliosis0LRRK2 CL E G H12089218618OMIM:607060Parkinson disease 8, autosomal dominant.221
HP:0011960HP:0011960Substantia nigra gliosis0MAPT CL E G H41376893OMIM:168600Parkinson disease, late-onset.140
HP:0011960HP:0011960Substantia nigra gliosis0NR4A2 CL E G H49297981OMIM:168600Parkinson disease, late-onset.27
HP:0011960HP:0011960Substantia nigra gliosis0PRKN CL E G H50718607OMIM:600116Parkinson disease, juvenile, type 2.138
HP:0011960HP:0011960Substantia nigra gliosis0SNCA CL E G H662211138ORPHA:171695Parkinsonian-pyramidal syndromeHP:0040282 - Frequent65
HP:0011960HP:0011960Substantia nigra gliosis0SNCAIP CL E G H962711139OMIM:168600Parkinson disease, late-onset.35
HP:0011960HP:0011960Substantia nigra gliosis0TBP CL E G H690811588OMIM:168600Parkinson disease, late-onset.7
HP:0011960HP:0011960Substantia nigra gliosis0TRNT CL E G H45767499OMIM:168600Parkinson disease, late-onset.


Genes (15) :ADH1C ATXN2 ATXN3 ATXN8OS FBXO7 GBA1 GLUD2 LRRK2 MAPT NR4A2 PRKN SNCA SNCAIP TBP TRNT

Diseases (7) :OMIM:168600 ORPHA:276238 ORPHA:276241 ORPHA:276244 ORPHA:171695 OMIM:607060 OMIM:600116
 

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