Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Abnormal cerebellum morphology
go back to main search page
Accession:HP:0001317 term browser browse the term
Definition:Any structural abnormality of the cerebellum.
Comment:A malformed cerebellum may be abnormally small, dysplastic, or unusually large. The vermis and both hemispheres may be equally or disproportionately affected. Primary malformations of the pons, midbrain, and supratentorial structures are also seen in a substantial subset of patients. The wide range in morphological presentations results from the diversity of causes, including chromosomal abnormalities, specific genetic syndromes, and extrinsic factors.
Synonyms:exact_synonym: Abnormality of the cerebellum;   Cerebellar abnormalities;   Cerebellar abnormality;   Cerebellar anomaly;   Cerebellar signs
 xref: UMLS:C0742038;   UMLS:C1866129


show annotations for term's descendants           Sort by:
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 0
    Phenotypic abnormality 0
      Abnormality of the nervous system 0
        Abnormal nervous system morphology 0
          Morphological central nervous system abnormality 0
            Abnormal brain morphology 0
              Abnormal hindbrain morphology 0
                Abnormal metencephalon morphology 0
                  Abnormal cerebellum morphology 0
                    Abnormal cerebellar cortex morphology + 0
                    Abnormal cerebellar peduncle morphology + 0
                    Abnormal cerebellar vermis morphology + 0
                    Abnormal dentate nucleus morphology + 0
                    Aplasia/Hypoplasia of the cerebellum + 0
                    Cerebellar atrophy + 0
                    Cerebellar calcifications + 0
                    Cerebellar dysplasia + 0
                    Cerebellar edema 0
                    Cerebellar gliosis 0
                    Cerebellar hemangioblastoma 0
                    Cerebellar malformation + 0
                    Dysplastic gangliocytoma of the cerebellum 0
                    Enlarged cerebellum 0
                    Fusion of the cerebellar hemispheres 0
                    Olivopontocerebellar atrophy 0
                    Rhombencephalosynapsis 0
                    T2 hyperintense cerebellar lesion 0
                    White cerebellum sign 0
paths to the root