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Abnormal waist to hip ratio
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HP_0031818 |
[A deviation from normal of the waist to hip ratio, defined as the waist measurement divided by hip measurement.] |
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single fate stem cell
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CL_0000035 |
[A stem cell that self-renews as well as give rise to a single mature cell type.] |
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Short middle phalanx of the 5th finger
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HP_0004220 |
[Hypoplastic/small middle phalanx of the fifth finger.] |
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lysosome
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GO_0005764 |
[A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions.] |
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Cone-shaped epiphysis of the distal phalanx of the 5th finger
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HP_0004222 |
[A cone-shaped appearance of the epiphysis of the distal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.] |
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Diffuse peripheral demyelination
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HP_0006881 |
[A diffuse loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.] |
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Severe hydrocephalus
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HP_0006882 |
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primary lysosome
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GO_0005766 |
[A lysosome before it has fused with a vesicle or vacuole.] |
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Absent cremaster reflex
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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.] |
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Cerebellar hemangioblastoma
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HP_0006880 |
[A hemangioblastoma of the cerebellum.] |
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Absent abdominal reflex
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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.] |
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pancreas left lobe
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UBERON_0015280 |
[A pancreatic lobule that is in_the_left_side_of a exocrine pancreas.] |
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pancreas right lobe
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UBERON_0015281 |
[A pancreatic lobule that is in_the_right_side_of a exocrine pancreas.] |
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Esophageal furrows
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HP_0031858 |
[Longitudinal grooves in the surface of the esophagus arranged in a longitudinal fashion (from top to bottom of the esophagus).] |
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Lytic defects of carpal bones
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HP_0004238 |
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Hobby horse gait
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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.] |
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sperm ejaculation
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GO_0042713 |
[The expulsion of seminal fluid, thick white fluid containing spermatozoa, from the male genital tract.] |
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Comma-shaped carpal bones
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HP_0004235 |
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Fusion of the cerebellar hemispheres
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HP_0006899 |
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Bone-in-a-bone appearance of carpal bones
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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.] |