Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the cerebral subcortex (HP:0010993)help
Parent Node:
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Abnormality of the basal ganglia (HP:0002134)help
..Starting node
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Small basal ganglia (HP:0012697)help
Term ID: 12697
Name: Small basal ganglia
Synonym:
Definition: Decreased size of the basal ganglia.
Comments:
Reference: HP:0012697
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal basal ganglia MRI signal intensity (HP:0012751) help
..expandAbnormal corpus striatum morphology (HP:0010994) help
..expandAbnormal globus pallidus morphology (HP:0002453) help
..expandAbnormal substantia nigra morphology (HP:0045007) help
..expandBasal ganglia calcification (HP:0002135) help
..expandBasal ganglia cysts (HP:0006799) help
..expandBasal ganglia edema (HP:0025039) help
..expandBasal ganglia gliosis (HP:0006999) help
..expandBasal ganglia necrosis (HP:0012128) help
..expandBilateral basal ganglia lesions (HP:0007146) help
..expandCavitation of the basal ganglia (HP:0007007) help
..expandDysgenesis of the basal ganglia (HP:0025102) help
..expandHemiballismus (HP:0100248) help
..expandLarge basal ganglia (HP:0007048) help
..expandNeuronal loss in basal ganglia (HP:0200147) help
..expandStatus cribrosum (HP:0025012) help
..expandSymmetric lesions of the basal ganglia (HP:0007039) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0012697HP:0012697Small basal ganglia0CNTNAP1 CL E G H8506616286Lethal congenital contracture syndrome 7616286C4225386OMIM14258011602346
HP:0012697HP:0012697Small basal ganglia0TBCK CL E G H93627616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 3616900C4225161OMIM172228261616899
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012697HP:0012697Small basal ganglia0ADAR CL E G H103225154ORPHA01122225146920
HP:0012697HP:0012697Small basal ganglia0MT-ATP6 CL E G H4508225154ORPHA07414516060
HP:0012697HP:0012697Small basal ganglia0NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM018019237605202
HP:0012697HP:0012697Small basal ganglia0NUP62 CL E G H23636225154ORPHA01618066605815
HP:0012697HP:0012697Small basal ganglia0TUBB3 CL E G H10381300570ORPHA032020772602661


Genes (7) :ADAR ATP6 CNTNAP1 NANS NUP62 TBCK TUBB3

Diseases (5) :225154 616286 610442 616900 300570
 

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