Phenotype Annotations Click to see Annotation Detail View
Imported Human Phenotype Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Abnormal brainstem MRI signal intensity | | IAGP | | 8554872 | ClinVar Annotator: match by term: Abnormal brainstem MRI signal intensity | ClinVar | PMID:25741868 more ... | Abnormal cerebral white matter morphology | | IAGP | | 8554872 | ClinVar Annotator: match by term: Abnormality of the cerebral white matter | ClinVar | PMID:25741868 more ... | Abnormal thalamic MRI signal intensity | | IAGP | | 8554872 | ClinVar Annotator: match by term: Abnormal thalamic MRI signal intensity | ClinVar | PMID:25741868 more ... | Bone marrow hypocellularity | | IAGP | | 8554872 | ClinVar Annotator: match by term: Bone marrow hypocellularity | ClinVar | PMID:25741868 more ... | Cerebral venous thrombosis | | IAGP | | 8554872 | ClinVar Annotator: match by term: Cerebral venous thrombosis | ClinVar | PMID:25741868 more ... | Combined immunodeficiency | | IAGP | | 8554872 | ClinVar Annotator: match by term: Combined immunodeficiency | ClinVar | PMID:25741868 more ... | Hypertonia | | IAGP | | 8554872 | ClinVar Annotator: match by term: Hypertonia | ClinVar | PMID:25741868 more ... | Muscle weakness | | IAGP | | 8554872 | ClinVar Annotator: match by term: Muscle weakness | ClinVar | PMID:25741868 more ... | Myelitis | | IAGP | | 8554872 | ClinVar Annotator: match by term: Myelitis | ClinVar | PMID:25741868 more ... | Neurogenic bladder | | IAGP | | 8554872 | ClinVar Annotator: match by term: Neurogenic bladder | ClinVar | PMID:25741868 more ... | Spastic gait | | IAGP | | 8554872 | ClinVar Annotator: match by term: Spastic gait | ClinVar | PMID:25741868 more ... | Spasticity | | IAGP | | 8554872 | ClinVar Annotator: match by term: Spasticity | ClinVar | PMID:25741868 more ... | |