| 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: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: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:0000322 | Short philtrum | |
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| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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| HP:0000368 | Low-set, posteriorly rotated ears | |
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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: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:0000490 | Deep set eyes | |
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| HP:0000505 | Impaired vision | |
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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:0000568 | Microphthalmos | "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators] |
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| HP:0000581 | Blepharophimosis | "Reduced width of the palpebral fissures." [HPO:sdoelken] |
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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: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:0001181 | Adducted thumbs | |
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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: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:0001276 | Hypertonia | |
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| HP:0001315 | Reduced reflexes | |
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| HP:0001321 | Cerebellar hypoplasia | |
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| HP:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [HPO:curators] |
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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:0001511 | Intrauterine growth retardation | |
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| HP:0001522 | Death in infancy | |
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| HP:0001531 | Failure to thrive in infancy | |
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| HP:0001838 | Vertical talus | |
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| HP:0001883 | Talipes | |
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| HP:0002120 | Cerebral cortical atrophy | |
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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: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:0002514 | Cerebral calcification | "The presence of calcification within brain structures." [HPO:curators] |
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| HP:0002751 | Kyphoscoliosis | |
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| HP:0002804 | Arthrogryposis multiplex congenita | |
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| HP:0002827 | Dislocated hips | |
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| HP:0003015 | Metaphyseal flaring | "The presence of splayed (i.e.,flared) metaphyseal segments of the long bones." [HPO:curators] |
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| HP:0003083 | Dislocated radial head | "A dislocation of the head of the radius from its socket in the elbow joint." [HPO:curators] |
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| HP:0003100 | Thin long bones | |
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| HP:0003577 | Onset at birth | |
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| HP:0003828 | Variable expressivity | |
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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:0005105 | Abnormal nasal morphology | |
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| HP:0005458 | Obliterated fontanelles | "Normally, the posterior and lateral fontanelles are obliterated by about six months after birth, the anterior fontanelle closes by about the middle of the second year. This term refers to the situation in which the fontanelles close at an inappropriately early time point." [HPO:curators] |
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| HP:0005487 | Prominent metopic suture | "A prominent persistent frontal suture (metopic suture)." [HPO:curators] |
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| HP:0005830 | Partial flexion contractures of fingers and toes | |
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| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
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| HP:0007633 | Bilateral microphthalmos | "A developmental anomaly characterized by abnormal smallness of both eyes." [HPO:curators] |
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| HP:0007703 | Abnormal retinal pigmentation | |
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| HP:0008872 | Feeding problems in infancy | |
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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:0009879 | Cortical gyral simplification | "An abnormal reduction of the number and complexity of the pattern of gyrations of the cerebral cortex." [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:0100490 | Camptodactyly (hands) | "Contractures of one ore more joints of the fingers." [HPO:sdoelken] |
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