All terms in HP
| Label | Id | Description |
|---|---|---|
| Diffuse peripheral demyelination | HP_0006881 | [A diffuse loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.] |
| Severe hydrocephalus | HP_0006882 | |
| primary lysosome | GO_0005766 | [A lysosome before it has fused with a vesicle or vacuole.] |
| Absent cremaster reflex | HP_0031829 | [Lack of response to scratching of the skin of the medial thigh, which in males normally elicits a brisk, short elevation of the ipsilateral testis, a phenomenon that is referred to as the cremaster reflex.] |
| Cerebellar hemangioblastoma | HP_0006880 | [A hemangioblastoma of the cerebellum.] |
| Absent abdominal reflex | HP_0031827 | [Lack of contraction of abdominal muscles in the quadrant of the abdomen that is stimulated by scraping the skin tangential to or toward the umbilicus.] |
| pancreas left lobe | UBERON_0015280 | [A pancreatic lobule that is in_the_left_side_of a exocrine pancreas.] |
| pancreas right lobe | UBERON_0015281 | [A pancreatic lobule that is in_the_right_side_of a exocrine pancreas.] |
| Esophageal furrows | HP_0031858 | [Longitudinal grooves in the surface of the esophagus arranged in a longitudinal fashion (from top to bottom of the esophagus).] |
| Lytic defects of carpal bones | HP_0004238 | |
| Hobby horse gait | HP_0031856 | [An abnormal gait characterized by toe walking, stiff legs, and skipping. The gait pattern has some resemblance to cock-walk gait, but affected individuals are able to improve their dystonic gait by walking backward.] |
| sperm ejaculation | GO_0042713 | [The expulsion of seminal fluid, thick white fluid containing spermatozoa, from the male genital tract.] |
| Comma-shaped carpal bones | HP_0004235 | |
| Fusion of the cerebellar hemispheres | HP_0006899 | |
| Bone-in-a-bone appearance of carpal bones | HP_0004234 | [The bone-in-bone sign is a radiographic finding produced by increased sclerosis (abnormally dense bone) occurring intermittently with zones of relatively normal bone density. This term should be used to describe such a finding in the carpal bones.] |
| Hypnopompic hallucinations | HP_0006896 | |
| Irregular carpal bones | HP_0004236 | [Carpal bones with irregular or fragmented margins.] |
| Cranial nerve VI palsy | HP_0006897 | |
| Hypoplastic olfactory lobes | HP_0006894 | |
| Lower limb hypertonia | HP_0006895 |