| 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:0000020 | Urinary incontinence | "Loss of the ability to control the urinary bladder leading to involuntary urination." [HPO:sdoelken] |
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| HP:0000217 | Xerostomia | "Dryness of the mouth due to salivary gland dysfunction." [HPO:curators] |
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| HP:0000224 | Decreased taste sensation | |
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| HP:0000458 | Anosmia | "An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell." [HPO:curators] |
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| HP:0000478 | Abnormality of the eyes | "Any abnormality of the `eyes` (FMA:54448), including location, spacing, and intraocular abnormalities." [HPO:curators] |
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| HP:0000622 | Blurred vision | |
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| HP:0000632 | Lacrimation abnormality | |
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| HP:0000707 | Neurological abnormality | "An abnormality of the central or peripheral nervous system." [HPO:curators] |
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| HP:0000762 | Decreased nerve conduction velocities | |
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| HP:0000966 | Hypohidrosis | "Abnormally diminished capacity to sweat." [HPO:curators] |
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| HP:0000970 | Anhidrosis | "Inability to sweat." [HPO:curators] |
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| HP:0000975 | Hyperhidrosis | "An abnormally increased perspiration." [HPO:probinson] |
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| HP:0000989 | Pruritus | "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." [HPO:curators] |
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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:0001069 | Hyperhidrosis, episodic | |
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| HP:0001097 | Keratoconjunctivitis sicca | "Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids." [HPO:curators] |
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| HP:0001182 | Tapered fingers | |
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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:0001265 | Hyporeflexia | |
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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:0001337 | Tremor | "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators] |
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| HP:0001649 | Tachycardia | "A rapid heartrate that exceeds the range of the normal resting heartrate for age." [HPO:curators] |
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| HP:0001662 | Bradycardia | |
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| HP:0001810 | Dystrophic toenails | |
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| HP:0001818 | Paronychia | "The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia)." [HPO:curators] |
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| HP:0001842 | Acroosteolysis (feet) | |
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| HP:0001872 | Abnormality of thrombocytes | |
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| HP:0001909 | Leukemia | "A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes." [HPO:curators] |
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| HP:0001939 | Metabolism abnormality | |
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| HP:0001962 | Palpitations | |
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| HP:0002014 | Diarrhea | |
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| HP:0002019 | Constipation | |
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| HP:0002020 | Gastroesophageal reflux | |
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| HP:0002045 | Hypothermia | |
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| HP:0002069 | Generalized tonic-clonic seizures | "Generalized tonic-clonic seizures are `generalized seizures` (HP:0002197) in which the patient suddenly loses conciousness, the eyes roll back, and the entire body musculature undergoes tonic contractions. In the clonic phase of the seizure, there are rhythmic contractions of the musculature alternating with relaxation of all muscle groups. Loss of sphincter control during the seizure is common. This form of seizure was formerly commonly called grand mal seizure." [HPO:curators] |
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| HP:0002121 | Absence seizures | "Recurrent absence seizures are `generalized seizures` (HP:0002197) that are characterized by a sudden cessation of motor activity and by a blank facial expression with flickering of the eyelids. There is no convulsive muscular activity or loss of postural control." [HPO:probinson] |
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| HP:0002123 | Myoclonic seizures | "Myoclonic seizures are sudden, brief losses of consciousness and postural tone not associated with tonic muscular contractions. Myoclonic seizures may involve one body part or the entire body. In the latter case, the myoclonic seizure is accompanied by a violent fall but not by loss of consciousness." [HPO:curators] |
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| HP:0002205 | Recurrent respiratory infections | |
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| HP:0002266 | Focal clonic seizures | |
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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:0002373 | Febrile seizures | "Febrile seizures are convulsions induced by a fever in infants or small children and are generally characterized by loss of consciousness and tonic-clonic movements. Most febrile seizures last a minute or two." [HPO:curators] |
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| HP:0002384 | Complex partial seizures | "A `partial seizure` (HP:0007359) characterized by impairment or loss of consciousness." [HPO:curators] |
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| HP:0002459 | Dysautonomia | |
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| HP:0002633 | Vasculitis | |
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| HP:0002645 | Wormian bones | |
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| HP:0002661 | Painless fractures due to injury | "An increased tendency to fractures following trauma, with fractures occurring without pain." [HPO:curators] |
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| HP:0002815 | Abnormality of the knees | "An abnormality of the knee joint or surrounding structures." [HPO:curators] |
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| HP:0003011 | Abnormality of musculature | "Abnormality originating in one or more muscles." [HPO:curators] |
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| HP:0003028 | Abnormality of the ankles | |
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| HP:0003103 | Abnormality of cortical bone | "An abnormality of cortical bone (also known as compact bone), which forms the dense surface of bones." [HPO:curators] |
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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:0003272 | Abnormality of the hip | "An abnormality of the hip joint or the surrounding anatomic region." [HPO:curators] |
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| HP:0003307 | Hyperlordosis | |
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| HP:0003326 | Myalgia | "A tendency to experience muscle pain." [HPO:curators] |
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| HP:0003380 | Decreased number of myelinated fibers | "A loss of myelinated nerve fibers (in general, this finding can be observed on nerve biopsy)." [HPO:curators] |
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| HP:0003448 | Decreased sensory nerve conduction velocities (NCV) | |
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| HP:0003593 | Early onset | |
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| HP:0003621 | Juvenile onset | |
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| HP:0003623 | Onset in neonatal period | |
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| HP:0003677 | Slow progression | |
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| HP:0003828 | Variable expressivity | |
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| HP:0004349 | Reduced bone mineral density | "A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones." [HPO:curators] |
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| HP:0004409 | Hyposmia | "A decreased sensitivity to odorants (that is, a decreased ability to perceive odors)." [HPO:curators] |
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| HP:0005930 | Abnormality of the epiphyses | |
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| HP:0006121 | Acral ulceration leading to autoamputation of digits | |
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| HP:0007021 | Pain insensitivity, diffuse | |
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| HP:0007328 | Decreased pain sensation | "Reduced ability to perceive painful stimuli." [HPO:curators] |
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| HP:0007334 | Partial seizures with secondary generalization | "`Partial seizures` (HP:0007359) with secondary evolution into a `generalized seizures` (HP:0002197)." [HPO:probinson] |
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| HP:0007359 | Partial seizures | "Recurrent partial `seizures` (HP:0001250). In a partial seizure, the electrical disturbance is limited to one part or side of the brain. That is, partial epilepsies are epileptic disorders in which clinical or laboratory findings disclose a localized origin of seizures." [HPO:curators] |
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| HP:0008391 | Mildly dystrophic fingernails | |
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| HP:0008872 | Feeding problems in infancy | |
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| HP:0009771 | Osteolytic defects of the phalanges of the hand | "Dissolution or degeneration of bone tissue of the phalanges of the hand." [HPO:curators] |
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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:0010783 | Erythema | "Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin." [HPO:probinson] |
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| HP:0010819 | Atonic seizures | "A type of `seizure` (HP:0001250) characterized by a suddenloss of musle tone. Usually, consciousness is retained. In an atonic seizure, the eyelids may droop, the head may nod, and the person may drop things and fall to the ground." [HPO:probinson] |
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| HP:0011151 | Obtundation status | "Atypical absence lasting for more than 30 minutes." [HPO:jalbers] |
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| HP:0012758 | Neurodevelopmental delay | |
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| HP:0025356 | Pschomotor retardation | |
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| HP:0040264 | Jaw pain | |
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| HP:0200025 | mandibular pain | |
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| HP:0200026 | ocular pain | |
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| HP:0500005 | Anal pain | "Pain in and around your anus or rectum (perianal region)." [http://www.mayoclinic.org/symptoms/anal-pain/basics/definition/sym-20050918] |
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