Human Phenotype Ontology 
Grandparent Node:
expandAbnormal nervous system morphology (HP:0012639)help
Parent Node:
expandMorphological central nervous system abnormality (HP:0002011)help
..Starting node
..expandAbnormal glial cell morphology (HP:0100705)help
Term ID: 100705
Name: Abnormal glial cell morphology
Synonym: Abnormality of the glial cells
Definition: An abnormality of the glia cell.
Comments:
Reference: HP:0100705
Genes and Diseases:
 
       Child Nodes:
........expandGliosis (HP:0002171) help
................... HP:0006990 Myelin-dependent gliosis
................... HP:0006999 Basal ganglia gliosis
................... HP:0011960 Substantia nigra gliosis
................... HP:0012698 Cerebellar gliosis
................... HP:0025037 Hypothalamic gliosis
........expandAstrocytosis (HP:0002446) help
........expandGlioma (HP:0009733) help
................... HP:0002888 Ependymoma
................... HP:0009592 Astrocytoma
................... HP:0009734 Optic nerve glioma
................... HP:0010795 Cerebellar glioma
................... HP:0010796 Brainstem glioma
................... HP:0012174 Glioblastoma multiforme
........expandAbnormality of the oligodendroglia (HP:0100706) help
................... HP:0100709 Reduction of oligodendroglia
........expandAbnormality of the astrocytes (HP:0100707) help
................... HP:0009592 Astrocytoma
........expandAbnormality of the microglia (HP:0100708) help

 Sister Nodes: 
..expandAbnormal CNS myelination (HP:0011400) help
..expandAbnormal meningeal morphology (HP:0010651) help
..expandAbnormal neural tube morphology (HP:0410043) help
..expandAbnormal subarachnoid space morphology (HP:0012703) help
..expandAbnormality of brain morphology (HP:0012443) help
..expandAbnormality of neuronal migration (HP:0002269) help
..expandAbnormality of the cerebrospinal fluid (HP:0002921) help
..expandAbnormality of the spinal cord (HP:0002143) help
..expandAlzheimer disease (HP:0002511) help
..expandAplasia/Hypoplasia involving the central nervous system (HP:0002977) help
..expandAtrophy/Degeneration affecting the central nervous system (HP:0007367) help
..expandCentral nervous system cyst (HP:0030724) help
..expandEncephalocele (HP:0002084) help
..expandMorphological abnormality of the pyramidal tract (HP:0002062) help
..expandNeoplasm of the central nervous system (HP:0100006) help
..expandUnusual CNS infection (HP:0011450) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100705HP:0100705Abnormal glial cell morphology0 CL E G H
HP:0100705HP:0100707Abnormal astrocyte morphology1 CL E G H
HP:0100705HP:0100706Abnormal oligodendroglia morphology1 CL E G H
HP:0100705HP:0100708Abnormal microglia morphology1 CL E G H
HP:0100705HP:0009733Glioma1 CL E G H
HP:0100705HP:0033035Abnormal Schwann cell morphology1 CL E G H
HP:0100705HP:0002171Gliosis1 CL E G H
HP:0100705HP:0100709Reduction of oligodendroglia2 CL E G H
HP:0100705HP:0010795Cerebellar glioma2 CL E G H
HP:0100705HP:0009734Optic nerve glioma2 CL E G H
HP:0100705HP:0033715Hippocampal sclerosis2 CL E G H
HP:0100705HP:0011960Substantia nigra gliosis2 CL E G H
HP:0100705HP:0010796Brainstem glioma2 CL E G H
HP:0100705HP:0033681Oligodendroglioma2 CL E G H
HP:0100705HP:0012698Cerebellar gliosis2 CL E G H
HP:0100705HP:0012174Glioblastoma multiforme2 CL E G H
HP:0100705HP:0006999Basal ganglia gliosis2 CL E G H
HP:0100705HP:0006990Myelin-dependent gliosis2 CL E G H
HP:0100705HP:0002446Astrocytosis2 CL E G H
HP:0100705HP:0002888Ependymoma2 CL E G H
HP:0100705HP:0009592Astrocytoma2 CL E G H
HP:0100705HP:0025037Hypothalamic gliosis2 CL E G H
HP:0100705HP:0009718Subependymal giant-cell astrocytoma3 CL E G H
HP:0100705HP:0033682Pleomorphic xanthoastrocytoma3 CL E G H
HP:0100705HP:0033680Pilocytic astrocytoma3 CL E G H


Genes (109) :ADAR AP4M1 APC ARX ATP6 ATP6V1A ATXN3 AVP BCS1L BRAT1 C11ORF95 C9ORF72 CDKN2A CHCHD10 CHEK2 CHMP2B COX10 COX15 CSF1R DNAJC13 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EIF4G1 EPCAM ERBB2 ERCC6 ETFA ETFB ETFDH FAN1 FARS2 FBXO7 FUS GBA GIGYF2 GRN HSD17B4 HTT IDH1 IDH2 KCNT1 KRAS L2HGDH LAMA2 LMNB1 LRP5 LRPPRC LRRK2 MAN2B1 MAPT MLH1 MLH3 MOCS1 MOCS2 MSH2 MSH3 MSH6 MTOR NARS2 NBN NF1 NF2 NR4A2 NUP62 PAX2 PIGA PIK3CA PLA2G6 PLP1 PMPCA PMS1 PMS2 POLG PRKN PRNP PSEN1 RANBP2 RELA SCO2 SDHA SERPINI1 SETBP1 SLC30A10 SNCA SNCAIP SQSTM1 STRADA SURF1 TARDBP TBCD TBK1 TBP TFG TGFBR2 THOC2 TMEM106B TREM2 TSC1 TSC2 TSEN54 TYROBP UBQLN2 VCP VPS35 VRK1 ZNF335

Diseases (90) :612936 300215 617403 109150 125700 256000 614498 275872 105550 609265 615119 221820 411602 603896 214150 231680 614946 607485 261515 143100 614959 236792 169500 259770 220111 248500 172700 601104 252150 252160 616239 647 251260 120330 300868 256600 213200 203700 157941 606688 88619 604218 168601 617193 607136 604484 300957 277470 225753 221770 300857 615095 225154 247806 79665 175100 276241 276244 276238 251636 275864 100070 155755 600795 144 137800 171695 163634 258 276300 480536 617100 607341 162200 601321 637 101000 168600 312080 600116 282166 603218 604377 798 309854 611087 191100 613254 607596 805
 

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