| HP:0000035 | Abnormality of the testis | |
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| HP:0000135 | Hypogonadism | "Reduced function of the gonads (testes in males or ovaries in females)." [HPO:curators] |
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| HP:0000405 | Hearing loss, conductive | |
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| HP:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
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| HP:0000431 | Broad nasal bridge | "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators] |
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| HP:0000463 | Nares, anteverted | "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject." [pmid:19152422] |
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| HP:0000501 | Glaucoma | "Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [HPO:curators] |
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| HP:0000510 | Retinitis pigmentosa | "Hereditary degeneration and atrophy of the retina." [HPO:curators] |
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| HP:0000512 | Abnormal electroretinogram | "Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography." [HPO:curators] |
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| HP:0000518 | Cataract | "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson] |
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| HP:0000545 | Myopia | |
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| HP:0000563 | Keratoconus | "A cone-shaped deformity of the cornea." [HPO:curators] |
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| HP:0000580 | Pigmentary retinopathy | |
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| HP:0000602 | Ophthalmoplegia | |
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| HP:0000613 | Photophobia | "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:curators] |
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| HP:0000618 | Blindness | |
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| HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
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| HP:0000648 | Optic atrophy | |
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| HP:0000662 | Night blindness | |
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| HP:0000842 | Hyperinsulinemia | |
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| HP:0000987 | Scarring | |
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| HP:0001133 | Constricted visual fields | |
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| HP:0001249 | Mental retardation | |
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| HP:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [HPO:curators] |
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| HP:0001417 | X-linked inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome." [HPO:curators] |
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| HP:0001513 | Obesity | "A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY)." [MeSH:D009765] |
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| HP:0005978 | Noninsulin-dependent diabetes mellitus | |
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| HP:0007675 | Progressive night blindness | |
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| HP:0007703 | Abnormal retinal pigmentation | |
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| HP:0008046 | Abnormality of the retinal vasculature | |
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| HP:0008736 | Hypoplasia of penis | |
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| HP:0200065 | Choroidoretinal degeneration | |
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