| 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: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:0000083 | Renal failure | |
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| HP:0000107 | Renal cysts | |
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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:0000176 | Submucous cleft palate | "A cleft palate that is covered by the mucous membrane of the roof of the mouth, which can make the cleft more difficult to observe upon physical examination. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue. Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate. It may be possible to detect a submucous cleft palate upon palpation as a notch in the bony palate." [HPO:curators, pmid:19779505] |
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| HP:0000193 | Bifid uvula | "A split or cleft uvula." [HPO:curators] |
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| HP:0000238 | Hydrocephalus | |
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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:0000256 | Macrocephaly | "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson] |
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| HP:0000358 | Posteriorly rotated ears | "A type of `abnormal location of the ears` (HP:0000357) in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front)." [HPO:probinson] |
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| 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] |
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| HP:0000411 | Protruding ears | |
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| HP:0000482 | Microcornea | "A congenital abnormality of the `cornea` (FMA:58238) in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood." [HPO:probinson] |
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| HP:0000483 | Astigmatism | |
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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: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: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:0000519 | Congenital cataract | "A congenital `cataract` (HP:0000518)." [HPO:probinson] |
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| HP:0000528 | Anophthalmia | "Absence of a true eyeball." [HPO:curators] |
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| HP:0000540 | Hypermetropia | |
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| HP:0000541 | Detached retina | |
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| HP:0000545 | Myopia | |
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| HP:0000556 | Retinal dystrophy | |
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| HP:0000568 | Microphthalmos | "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators] |
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| HP:0000572 | Visual loss | |
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| HP:0000573 | Retinal hemorrhage | |
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| HP:0000575 | Scotoma | "Scotoma refers to an area or island of loss or impairment of visual acuity surrounded by a field of normal or relatively well-preserved vision." [HPO:curators] |
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| HP:0000577 | Exotropia | |
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| HP:0000612 | Iris coloboma | "A `coloboma` (HP:0000589) of the `iris` (FMA:58235)." [HPO:probinson] |
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| HP:0000622 | Blurred vision | |
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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:0000790 | Hematuria | "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)." [HPO:curators] |
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| HP:0001123 | Visual field defects | |
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| HP:0001136 | Retinal arteriolar tortuosity | |
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| HP:0001249 | Mental retardation | |
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| 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] |
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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:0001256 | Mental retardation, mild | "Mild mental retardation is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:curators] |
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| HP:0001257 | Spasticity | "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [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:0001265 | Hyporeflexia | |
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| HP:0001269 | Hemiparesis | "Relatively mild weakness in the arm, leg, and in some cases the face on one side of the body." [HPO:curators] |
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| HP:0001272 | Cerebellar atrophy | |
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| HP:0001274 | Agenesis of corpus callosum | "Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline." [HPO:curators] |
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| HP:0001284 | Areflexia | |
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| HP:0001297 | Stroke | |
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| HP:0001302 | Pachygyria | "A congenital abnormality of the cerebral hemisphere chacterized by unusually thick gyrations (convolutions) of the cerebral cortex." [HPO:curators] |
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| 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] |
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| HP:0001321 | Cerebellar hypoplasia | |
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| HP:0001324 | Muscle weakness | "Reduced strength of muscles." [HPO:curators] |
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| HP:0001328 | Learning disability | |
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| HP:0001331 | Absent septum pellucidum | "Absence of the septum pellucidum." [HPO:curators] |
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| HP:0001460 | Aplasia/Hypoplasia involving the musculature | "Absence or underdevelopment of the musculature." [HPO:curators] |
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| HP:0001878 | Hemolytic anemia | |
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| HP:0002077 | Migraine with aura | |
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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:0002132 | Porencephaly | |
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| HP:0002140 | Ischemic stroke | |
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| HP:0002273 | Tetraparesis | |
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| HP:0002301 | Hemiplegia | "Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body." [HPO:curators] |
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| HP:0002352 | Leukoencephalopathy | |
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| HP:0002451 | Limb dystonia | |
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| HP:0003202 | Amyotrophy | "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators] |
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| HP:0003236 | Elevated serum creatine phosphokinase | |
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| HP:0003394 | Muscle cramps | |
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| HP:0003487 | Babinski sign | "Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract." [HPO:curators] |
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| HP:0003560 | Muscular dystrophy | "The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the apoptosis of muscle cells." [HPO:curators] |
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| HP:0003828 | Variable expressivity | |
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| HP:0004944 | Cerebral aneurysm | "The presence of a localized dilatation or ballooning of a cerebral artery." [HPO:curators] |
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| HP:0005115 | Supraventricular arrhythmia | |
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| HP:0005562 | Multiple renal cysts | |
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| HP:0006859 | Posterior leukoencephalopathy | |
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| HP:0007209 | Facial paralysis due to cranial nerve VII compression | "Facial nerve paralysis (facial palsy) caused by compression (with ensuing loss of function) of the facial nerve (i.e., the seventh cranial nerve)." [HPO:curators] |
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| HP:0007227 | Brain macrogyria and polymicrogyria | |
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| HP:0007676 | Hypoplasia of the iris | |
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| HP:0007731 | Chorioretinal dysplasia | |
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| HP:0007894 | Hypopigmentation of the fundus | |
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| HP:0007957 | Variable degree of corneal opacities | |
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| HP:0007973 | Retinal dysplasia | |
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| HP:0008736 | Hypoplasia of penis | |
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| HP:0009918 | Ectopia pupillae | "A malposition of the pupil." [HPO:curators] |
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| HP:0010508 | Metatarsus valgus | "A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight." [HPO:curators] |
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| HP:0010636 | Schizencephaly | "The presence of a cleft in the cerebral cortex unilaterally or bilaterally, usually located in the frontal area." [HPO:curators] |
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| HP:0011496 | Corneal vascularization | "Ingrowth of vessels into the corneal epithelium." [DDD:ncarter] |
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| HP:0011500 | Polycoria | "Multiple pupils." [DDD:ncarter] |
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| HP:0012400 | Abnormal aldolase level | "An abnormal concentration of aldolase in the serum. Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate." [HPO:probinson] |
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| HP:0012841 | Retinal vascular tortuosity | "The presence of an increased number of twists and turns of the retinal blood vessels." [HPO:probinson] |
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| HP:0030880 | Raynaud phenomenon | |
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| HP:0040081 | Abnormal levels of creatine kinase in blood | |
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| HP:0045040 | Abnormal lactate dehydrogenase activity | |
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