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Motor polyneuropathy
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HP_0007178 |
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Postnatal cystic hygroma
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HP_0010879 |
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Broad distal phalanges of all fingers
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HP_0009880 |
[Abnormally wide (broad) distal phalanx of finger of all fingers.] |
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Aplasia/Hypoplasia of the distal phalanges of the hand
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HP_0009835 |
[Absence or underdevelopment of the distal phalanges.] |
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Plasma/serum xenobiotic
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HP_0500100 |
[Presence of a xenobiotic in plasma and/or serum.] |
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Blood xenobiotic
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HP_0410172 |
[The presence of a xenobiotic in blood.] |
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Gastric fluid xenobiotic
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HP_0500101 |
[Presence of a xenobiotic in gastric fluid.] |
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Presence of xenobiotic
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HP_0031838 |
[Presence of a chemical substance found within an individual that is not naturally produced or expected to be present in human tissues or bodily fluids.] |
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Absence of epidermal lamellar bodies
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HP_0034840 |
[Lack of lamellar bodies (LBs) inthe epidermis. LBs are specialized organelles that contain pro-barrier lipids imparting a fully lamellar internal structure, but also other cargoes such as enzymes (lipid metabolizing and proteolytic), enzyme inhibitors, and antimicrobial peptides.] |
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Tapered distal phalanges of finger
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HP_0009884 |
[A reduction in diameter of the distal phalanx of finger towards the distal end.] |
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Cervical spinal cord atrophy
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HP_0010873 |
[Atrophy of the cervical segment of the spinal cord.] |
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Atrophy of the spinal cord
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HP_0006827 |
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Tendon xanthomatosis
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HP_0010874 |
[The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows).] |
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Gastrointestinal granulomatosis
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HP_0034841 |
[The presence of multiple granulomas in the gastrointestinal tract (Pylorus, esophagus, jejunum, ileum, cecum, rectum, perirectal area, esophagus) as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes.] |
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obsolete Prenatal short stature
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HP_0009885 |
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Enlarged sperm head vacuole
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HP_0034842 |
[Increased size of sperm vacuoles, which are surface concavities typically located at the the tip or middle area of sperm heads. According to the WHO Laboratory Manual for the Examination and Processing of Human Semen, sperm head vacuoles are considered abnormal when exceeding 20% of the cross-sectional area of the head. Vacuoles are found in almost all samples with normal sperm morphology; this term applies if the proportion of sperm with abnormally large vacuoles is above the upper limit of normal.] |
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Sensory ataxia
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HP_0010871 |
[Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms.] |
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Trichorrhexis nodosa
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HP_0009886 |
[Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair.] |
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Ureteral hamartoma
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HP_0034843 |
[A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the ureter.] |
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T-wave inversion
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HP_0010872 |
[An inversion of the T-wave (which is normally positive).] |