| 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] |
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| HP:0000007 | Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| HP:0000028 | Cryptorchidism | "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators] |
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| HP:0000047 | Hypospadias | "Displacement of the urethral opening on the ventral (inferior) surface of the penis." [HPO:curators] |
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| HP:0000062 | Ambiguous genitalia | |
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| HP:0000076 | Vesicoureteral reflux | "Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes." [HPO:curators] |
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| HP:0000083 | Renal failure | |
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| HP:0000112 | Nephropathy | "A nonspecific term referring to disease or damage of the kidneys." [HPO:curators] |
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| HP:0000130 | Abnormality of the uterus | "An abnormality of the uterus (womb)." [HPO:curators] |
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| HP:0000142 | Abnormality of the vagina | |
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| HP:0000150 | Gonadoblastoma | |
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| HP:0000232 | Everted lower lip | |
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| 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] |
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| HP:0000298 | Mask-like facies | |
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| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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| HP:0000364 | Hearing abnormality | |
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| HP:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
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| HP:0000491 | Keratitis | "Inflammation of the cornea." [HPO:curators] |
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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:0000504 | Abnormality of vision | "Abnormality of eyesight (visual perception)." [HPO:curators] |
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| HP:0000505 | Impaired vision | |
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| HP:0000508 | Ptosis | "Drooping of the eyelid." [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:0000523 | Subcapsular cataracts | |
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| HP:0000526 | Aniridia | "Congenital absence of the iris." [HPO:curators] |
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| HP:0000538 | Pseudopapilledema | |
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| HP:0000541 | Detached retina | |
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| HP:0000567 | Chorioretinal coloboma | |
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| HP:0000572 | Visual loss | |
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| HP:0000588 | Optic nerve coloboma | |
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| HP:0000609 | Optic nerve hypoplasia | |
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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:0000646 | Amblyopia | "Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. Ambylopia can result from visual deprivation during the critical period of development of visual abilities which lasts to about the age of 8 years. Thus, ambylopia can result from strabismus, anisometropia, or high hypermetropia in there is a failure to form a focused image in one or both eyes." [HPO:curators] |
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| HP:0000648 | Optic atrophy | |
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| HP:0000659 | Peters anomaly | |
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| HP:0001087 | Congenital glaucoma | |
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| HP:0001249 | Mental retardation | |
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| HP:0001251 | Ataxia | "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators] |
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| HP:0001252 | Muscular hypotonia | "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators] |
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| 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] |
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| HP:0001270 | Motor retardation | |
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| HP:0001321 | Cerebellar hypoplasia | |
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| HP:0001350 | Slurred speech | |
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| HP:0001428 | Somatic mutation | |
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| HP:0001466 | Contiguous gene syndrome | |
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| HP:0001510 | Growth retardation | |
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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:0002079 | Hypoplasia of the corpus callosum | "Underdevelopment of the corpus callosum." [HPO:curators] |
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| HP:0002119 | Ventriculomegaly | |
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| HP:0002126 | Polymicrogyria | "A congenital abnormality of the cerebral hemisphere characterized by an excessive number of small gyri (convolutions) on the surface of the brain." [HPO:curators] |
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| HP:0002168 | Scanning speech | |
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| HP:0002174 | Postural tremor | "A type of tremors that is triggered by holding a limb in a fixed position." [HPO:curators] |
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| HP:0002353 | EEG abnormalities | "Abnormality observed by electroencephalogram (EEG), which is used to record of the brain s spontaneous electrical activity from multiple electrodes placed on the scalp." [HPO:curators] |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002667 | Nephroblastoma (Wilms tumor) | "A kind of renal tumor primarily affecting children. It is characterized by an abnormal proliferation of the metanephric blastema cells, which are believed to be primitive embryologic cells of the kidney. Clinically, nephroblatoma usually presents as an abdominal mass, and in some cases with abdominal pain, hypertension, hematuria, and fever." [HPO:curators] |
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| HP:0004322 | Decreased body height | "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
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| HP:0004414 | Abnormality of the pulmonary artery | |
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| HP:0006934 | Congenital nystagmus | "Nystagmus dating from or present at birth." [HPO:curators] |
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| HP:0007299 | Dysfunction of lateral corticospinal tracts | |
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| HP:0007440 | Generalized hyperpigmentation | |
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| HP:0007663 | Decreased central vision | |
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| HP:0007676 | Hypoplasia of the iris | |
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| HP:0007703 | Abnormal retinal pigmentation | |
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| HP:0007710 | Peripheral vitreous opacities | |
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| HP:0007750 | Foveal hypoplasia | |
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| HP:0007759 | Corneal opacities, not impairing visual acuity | |
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| HP:0007766 | Hypoplastic optic disks | |
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| HP:0007819 | Presenile cataracts | |
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| HP:0007957 | Variable degree of corneal opacities | |
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| HP:0008053 | Aplasia/Hypoplasia of the iris | "Absence or underdevelopment of the iris." [HPO:curators] |
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| HP:0008059 | Aplasia/Hypoplasia of the macula | |
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| HP:0010464 | Streak ovary | "A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequenty mesonephric or hilar cells." [HPO:curators] |
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| HP:0011480 | Unilateral microphthalmos | "A developmental anomaly characterized by abnormal smallness of one eye." [DDD:ncarter] |
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| HP:0011483 | Anterior synechiae of the anterior chamber | "Adhesions between the iris and the cornea." [DDD:ncarter] |
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| HP:0011493 | Central opacification of the cornea | "Reduced transparency of the central portion of the corneal stroma." [DDD:ncarter] |
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| HP:0012521 | Optic nerve aplasia | "Congenital absence of the `optic nerve` (FMA:50863)." [HPO:probinson] |
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| HP:0012547 | Abnormal involuntary eye movements | "Anomalous movements of the eyes that occur without the subject wanting them to happen." [HPO:probinson] |
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| HP:0012758 | Neurodevelopmental delay | |
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| HP:0012795 | Abnormality of the optic disc | "A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination." [HPO:probinson] |
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| HP:0030534 | Abnormal best corrected visual acuity test | |
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| HP:0031159 | Thinning of Descemet membrane | "A reduction in the thickness of Descemet s membrane." [] |
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| HP:0100022 | Abnormality of movement | "An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements." [HPO:probinson] |
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| HP:0100627 | Displacement of the external urethral meatus | "A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina)." [HPO:sdoelken] |
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