| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
Show
|
| HP:0000023 | Inguinal hernia | |
Show
|
| HP:0000035 | Abnormality of the testis | |
Show
|
| HP:0000077 | Abnormality of the kidneys | "An abnormality of the kidneys, the paired organs whose primary function is the production of urine." [HPO:curators] |
Show
|
| HP:0000135 | Hypogonadism | "Reduced function of the gonads (testes in males or ovaries in females)." [HPO:curators] |
Show
|
| HP:0000175 | Cleft palate | "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [HPO:curators] |
Show
|
| HP:0000191 | Oral frenula | |
Show
|
| HP:0000204 | Cleft lip | "A gap in the `upper lip` (FMA:59817). This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development." [HPO:probinson] |
Show
|
| HP:0000243 | Trigonocephaly | |
Show
|
| HP:0000252 | Microcephaly | "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators] |
Show
|
| HP:0000278 | Retrognathia | |
Show
|
| HP:0000293 | Full cheeks | |
Show
|
| HP:0000294 | Low frontal hairline | "A condition in which the scalp hair is present at lower than usual areas of the forehead." [HPO:curators] |
Show
|
| HP:0000316 | Hypertelorism | |
Show
|
| HP:0000365 | Hearing loss | |
Show
|
| HP:0000369 | Low-set ears | "Low-set ears are defined to be set below an arbitrary line drawn between the lateral canthus of the eye and the occipital protruberance." [HPO:curators] |
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:0000444 | Beaked nose | |
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:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
Show
|
| HP:0000488 | Retinopathy | |
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: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:0000520 | Proptosis | |
Show
|
| HP:0000545 | Myopia | |
Show
|
| HP:0000563 | Keratoconus | "A cone-shaped deformity of the cornea." [HPO:curators] |
Show
|
| HP:0000582 | Upslanting palpebral fissures | |
Show
|
| HP:0000593 | Abnormality of the anterior chamber | "Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris." [HPO:curators] |
Show
|
| HP:0000602 | Ophthalmoplegia | |
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:0000664 | Synophrys | "Fusion of the left and right `eyebrow` (FMA:54237)." [HPO:probinson] |
Show
|
| HP:0000774 | Narrow chest | |
Show
|
| HP:0000842 | Hyperinsulinemia | |
Show
|
| HP:0000926 | Platyspondyly | |
Show
|
| HP:0000980 | Pallor | |
Show
|
| HP:0000987 | Scarring | |
Show
|
| HP:0001249 | Mental retardation | |
Show
|
| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
Show
|
| HP:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
Show
|
| HP:0001305 | Dandy-Walker malformation | "A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman s terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the body s ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal." [HPO:curators] |
Show
|
| HP:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [HPO:curators] |
Show
|
| HP:0001376 | Decreased mobility of joints | |
Show
|
| HP:0001508 | Failure to thrive | |
Show
|
| HP:0001511 | Intrauterine growth retardation | |
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:0001522 | Death in infancy | |
Show
|
| HP:0001561 | Polyhydramnios | |
Show
|
| HP:0001732 | Abnormality of the pancreas | |
Show
|
| HP:0001773 | Short, broad feet | "Abnormally short and wide feet." [HPO:curators] |
Show
|
| HP:0001883 | Talipes | |
Show
|
| HP:0002020 | Gastroesophageal reflux | |
Show
|
| HP:0002079 | Hypoplasia of the corpus callosum | "Underdevelopment of the corpus callosum." [HPO:curators] |
Show
|
| HP:0002120 | Cerebral cortical atrophy | |
Show
|
| HP:0002558 | Supernumerary nipples | |
Show
|
| HP:0002566 | Intestinal malrotation | "An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis." [HPO:curators] |
Show
|
| HP:0003042 | Elbow dislocation | "A dislocation affecting the elbow joint, where the radius, ulna, and humerus meet." [HPO:curators] |
Show
|
| HP:0004422 | Biparietal narrowing | "A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull)." [HPO:curators] |
Show
|
| HP:0005487 | Prominent metopic suture | "A prominent persistent frontal suture (metopic suture)." [HPO:curators] |
Show
|
| HP:0005978 | Noninsulin-dependent diabetes mellitus | |
Show
|
| HP:0006610 | Wide intermamillary distance | |
Show
|
| HP:0007413 | Nevus flammeus of the forehead | "`Naevus flammeus` (HP:0001052) localised in the skin of the forehead." [HPO:sdoelken] |
Show
|
| HP:0007675 | Progressive night blindness | |
Show
|
| HP:0007703 | Abnormal retinal pigmentation | |
Show
|
| HP:0008046 | Abnormality of the retinal vasculature | |
Show
|
| HP:0008736 | Hypoplasia of penis | |
Show
|
| HP:0009465 | Ulnar deviation of fingers | |
Show
|
| HP:0009891 | Hypoplasia of the supraorbital ridges | "Underdevelopment of the supraorbital ridges." [HPO:curators] |
Show
|
| HP:0010306 | Short thorax | "Reduced inferior to superior extent of the thorax." [HPO:curators] |
Show
|
| HP:0010864 | Mental retardation, severe | "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34." [HPO:probinson] |
Show
|
| HP:0011968 | Feeding difficulties | "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs] |
Show
|
| HP:0030680 | Abnormality of cardiovascular system morphology | "Any structural anomaly of the heart and great vessels." [] |
Show
|
| HP:0100490 | Camptodactyly (hands) | "Contractures of one ore more joints of the fingers." [HPO:sdoelken] |
Show
|
| HP:0100874 | Thick hair | "Increased density of `hairs` (FMA:53667), i.e., and elevanted number of hairs per unit area." [HPO:probinson] |
Show
|
