| HP:0000035 | Abnormality of the testis | |
Show
|
| HP:0000135 | Hypogonadism | "Reduced function of the gonads (testes in males or ovaries in females)." [HPO:curators] |
Show
|
| HP:0000388 | Otitis media | |
Show
|
| HP:0000405 | Hearing loss, conductive | |
Show
|
| HP:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
Show
|
| HP:0000431 | Broad nasal bridge | "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators] |
Show
|
| 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] |
Show
|
| 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] |
Show
|
| HP:0000505 | Impaired vision | |
Show
|
| HP:0000510 | Retinitis pigmentosa | "Hereditary degeneration and atrophy of the retina." [HPO:curators] |
Show
|
| HP:0000512 | Abnormal electroretinogram | "Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography." [HPO:curators] |
Show
|
| 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] |
Show
|
| HP:0000540 | Hypermetropia | |
Show
|
| HP:0000545 | Myopia | |
Show
|
| HP:0000548 | Cone-rod dystrophy | |
Show
|
| HP:0000551 | Abnormal color vision | |
Show
|
| HP:0000563 | Keratoconus | "A cone-shaped deformity of the cornea." [HPO:curators] |
Show
|
| HP:0000577 | Exotropia | |
Show
|
| HP:0000602 | Ophthalmoplegia | |
Show
|
| HP:0000603 | Central scotoma | |
Show
|
| HP:0000608 | Macular degeneration | |
Show
|
| 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] |
Show
|
| HP:0000618 | Blindness | |
Show
|
| HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
Show
|
| HP:0000648 | Optic atrophy | |
Show
|
| HP:0000662 | Night blindness | |
Show
|
| HP:0000842 | Hyperinsulinemia | |
Show
|
| HP:0000987 | Scarring | |
Show
|
| HP:0001249 | Mental retardation | |
Show
|
| HP:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [HPO:curators] |
Show
|
| 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] |
Show
|
| HP:0001419 | X-linked recessive inheritance | "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators] |
Show
|
| 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] |
Show
|
| HP:0001939 | Metabolism abnormality | |
Show
|
| HP:0002205 | Recurrent respiratory infections | |
Show
|
| HP:0002837 | Bronchitis | |
Show
|
| HP:0005101 | High-frequency hearing loss | |
Show
|
| HP:0005376 | Increased susceptibility to haemophilus influenzae infections | |
Show
|
| HP:0005978 | Noninsulin-dependent diabetes mellitus | |
Show
|
| HP:0007641 | Secondary dyschromatopsia | |
Show
|
| HP:0007663 | Decreased central vision | |
Show
|
| HP:0007675 | Progressive night blindness | |
Show
|
| HP:0007703 | Abnormal retinal pigmentation | |
Show
|
| HP:0007722 | Loss of retinal pigment epithelium | |
Show
|
| HP:0007750 | Foveal hypoplasia | |
Show
|
| HP:0007793 | Bilateral macular retinal pigment epithelial mottling | |
Show
|
| HP:0007843 | Attenuation of retinal blood vessels | |
Show
|
| HP:0007939 | Almost complete colorblindness except ability to see blue | |
Show
|
| HP:0008046 | Abnormality of the retinal vasculature | |
Show
|
| HP:0008736 | Hypoplasia of penis | |
Show
|
| HP:0011109 | Chronic sinusitis | "A chronic form of `sinusitis` (HP:0000246)." [HPO:probinson] |
Show
|
| HP:0012043 | Pendular nystagmus | "Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction." [HPO:probinson] |
Show
|
| HP:0030637 | Cone dysfunction | |
Show
|
| HP:0100750 | Atelectasis | |
Show
|
| HP:0200056 | Macular scarring | |
Show
|
