| 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:0000054 | Micropenis | |
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| HP:0000083 | Renal failure | |
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| HP:0000093 | Proteinuria | |
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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:0000232 | Everted lower lip | |
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| HP:0000233 | Thin vermillion border | |
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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:0000292 | Loss of facial adipose tissue | "Loss of normal subcutaneous fat tissue in the face." [HPO:curators] |
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| HP:0000303 | Mandibular prognathia | "Abnormal prominence of the chin related to an abnormally long mandible." [HPO:curators] |
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| HP:0000340 | Sloping forehead | "A form of the forehead that slopes from top to bottom in an anterior direction." [HPO:curators] |
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| HP:0000343 | Long philtrum | |
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| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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| HP:0000377 | Abnormal form of ears | "Abnormal form of the out part of the ear (also referred to as the auricle or pinna)." [HPO:curators] |
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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:0000417 | Slender nose | |
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| HP:0000426 | Prominent nasal bridge | |
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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:0000470 | Short neck | |
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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: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:0000490 | Deep set eyes | |
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| HP:0000491 | Keratitis | "Inflammation of the cornea." [HPO:curators] |
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| HP:0000505 | Impaired vision | |
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| HP:0000509 | Conjunctivitis | "Inflammation of the conjunctiva." [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:0000540 | Hypermetropia | |
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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:0000580 | Pigmentary retinopathy | |
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| HP:0000581 | Blepharophimosis | "Reduced width of the palpebral fissures." [HPO:sdoelken] |
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| HP:0000598 | Abnormality of the ears | |
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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:0000621 | Entropion | "An abnormal turning inward of the upper and/or lower eyelid." [HPO:sdoelken] |
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| HP:0000633 | Decreased lacrimation | |
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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:0000649 | Abnormality of vision evoked potentials | |
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| HP:0000656 | Ectropion | "An abnormal turning outward of the lower eyelid." [HPO:sdoelken] |
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| HP:0000670 | Carious teeth | |
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| HP:0000680 | Delayed eruption of deciduous teeth | |
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| HP:0000685 | Hypoplastic teeth | |
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| HP:0000689 | Dental malocclusion | "Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns." [HPO:curators] |
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| HP:0000762 | Decreased nerve conduction velocities | |
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| HP:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
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| HP:0000869 | Secondary amenorrhea | |
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| HP:0000876 | Oligomenorrhea | |
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| HP:0000939 | Osteoporosis | "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean." [HPO:curators] |
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| HP:0000958 | Dry skin | |
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| HP:0000970 | Anhidrosis | "Inability to sweat." [HPO:curators] |
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| HP:0000987 | Scarring | |
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| HP:0000992 | Photosensitivity | "An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin." [HPO:curators] |
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| HP:0001000 | Abnormality of skin pigmentation | |
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| HP:0001007 | Hirsutism | "Abnormally increased hair growth." [HPO:curators] |
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| HP:0001009 | Telangiectasia | "Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter." [HPO:curators] |
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| HP:0001029 | Poikiloderma | |
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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: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: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:0001265 | Hyporeflexia | |
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| HP:0001266 | Choreoathetosis | |
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| HP:0001268 | Mental deterioration | |
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| HP:0001271 | Polyneuropathy | "A generalized disorder of peripheral nerves." [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:0001276 | Hypertonia | |
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| HP:0001284 | Areflexia | |
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| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001315 | Reduced reflexes | |
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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:0001337 | Tremor | "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators] |
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| HP:0001376 | Decreased mobility of joints | |
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| HP:0001387 | Joint stiffness | "Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time." [HPO:curators] |
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| HP:0001425 | Heterogeneous | |
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| HP:0001480 | Freckling | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001511 | Intrauterine growth retardation | |
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| HP:0001518 | Low birth weight | |
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| HP:0001522 | Death in infancy | |
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| HP:0001525 | Severe failure to thrive | |
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| HP:0001595 | Hair abnormality | |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0001838 | Vertical talus | |
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| HP:0001883 | Talipes | |
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| HP:0002059 | Cerebral atrophy | |
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| HP:0002120 | Cerebral cortical atrophy | |
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| HP:0002135 | Basal ganglia calcification | "Calcification affecting one or more structures of the basal ganglia." [HPO:curators] |
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| HP:0002171 | Gliosis | |
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| HP:0002187 | Mental retardation, profound | "Severe mental retardation is defined as an intelligence quotient (IQ) below 20." [HPO:curators] |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002343 | Normal pressure hydrocephalus | |
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| HP:0002514 | Cerebral calcification | "The presence of calcification within brain structures." [HPO:curators] |
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| HP:0002542 | Olivopontocerebellar atrophy | |
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| HP:0002545 | Patchy demyelination of subcortical white matter | |
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| HP:0002664 | Neoplasia | "An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant tumour or neoplasm." [HPO:curators] |
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| HP:0002673 | Coxa valga | "Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults)." [HPO:curators] |
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| HP:0002684 | Thickened calvaria | "The presence of an abnormally thick calvaria." [HPO:curators] |
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| HP:0002751 | Kyphoscoliosis | |
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| HP:0002804 | Arthrogryposis multiplex congenita | |
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| HP:0002808 | Kyphosis | |
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| HP:0002866 | Hypoplastic iliac wings | |
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| HP:0002987 | Elbow contractures | |
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| HP:0003079 | Defective DNA repair after ultraviolet radiation damage | |
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| HP:0003130 | Abnormal myelination in sural nerve biopsies | |
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| HP:0003224 | Increased cellular sensitivity to UV light | |
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| HP:0003278 | Small, squared off pelvis | |
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| HP:0003469 | Dysmyelination | |
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| HP:0003510 | Short stature, severe | "A severe degree of short stature." [HPO:curators] |
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| HP:0003593 | Early onset | |
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| HP:0003758 | Reduced subcutaneous adipose tissue | "The presence of an abnormally reduced amount of subcutaneous adipose tissue." [HPO:curators] |
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| HP:0003819 | Death in childhood | |
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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:0004334 | Dermal atrophy | "Partial or complete wasting (atrophy) of the skin." [HPO:curators] |
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| HP:0004681 | Longitudinal groove on soles | |
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| HP:0005105 | Abnormal nasal morphology | |
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| HP:0005328 | Progeroid facial appearance | |
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| HP:0005487 | Prominent metopic suture | "A prominent persistent frontal suture (metopic suture)." [HPO:curators] |
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| HP:0006380 | Knee flexion deformities | |
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| HP:0006610 | Wide intermamillary distance | |
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| HP:0006958 | Abnormal auditory evoked potentials | "An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex." [HPO:curators] |
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| HP:0007346 | Subcortical white matter calcifications | |
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| HP:0007352 | Cerebellar calcifications | |
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| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
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| HP:0007623 | Pigmentation anomalies of sun-exposed skin | |
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| HP:0007676 | Hypoplasia of the iris | |
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| HP:0007703 | Abnormal retinal pigmentation | |
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| HP:0007759 | Corneal opacities, not impairing visual acuity | |
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| HP:0008070 | Sparse hair | |
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| HP:0008125 | Second metatarsal posteriorly placed | |
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| HP:0008232 | Elevated follicle stimulating hormone | |
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| HP:0008639 | Gonadal hypoplasia | |
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| HP:0008839 | Hypoplastic pelvis | |
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| HP:0008872 | Feeding problems in infancy | |
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| HP:0008897 | Growth retardation, progressive | |
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| HP:0009473 | Joint contractures involving the joints of the hand | |
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| HP:0009830 | Peripheral neuropathy | "Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course." [HPO:curators] |
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| HP:0010234 | Ivory epiphyses of the phalanges of the hand | "Sclerosis of the epiphyses of the phalanges of the fingers, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] |
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| HP:0010978 | Abnormality of immune system physiology | "A functional abnormality of the `immune system` (FMA:9825)." [HPO:probinson, MP:0001790] |
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| HP:0011344 | Severe global developmental delay | "A severe delay in the achievement of motor or mental milestones in the domains of development of a child." [DDD:hvfirth] |
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| HP:0011359 | Dry hair | "Hair that lacks the lustre (shine or gleam) of normal hair." [DDD:cmoss] |
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| HP:0011675 | Arrhythmia | "Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both." [DDD:dbrown, pmid:19063792] |
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| HP:0012385 | Camptodactyly | "The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension." [HPO:probinson] |
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| HP:0012448 | Delayed myelination | "`Delayed` (PATO:0000502) `myelination` (GO:0042552)." [ORCID:0000-0001-5208-3432] |
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| HP:0100490 | Camptodactyly (hands) | "Contractures of one ore more joints of the fingers." [HPO:sdoelken] |
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