| 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] |
Show
|
| 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] |
Show
|
| HP:0000093 | Proteinuria | |
Show
|
| HP:0000112 | Nephropathy | "A nonspecific term referring to disease or damage of the kidneys." [HPO:curators] |
Show
|
| 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] |
Show
|
| HP:0000253 | Microcephaly, progressive | "Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms." [HPO:curators] |
Show
|
| HP:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
Show
|
| HP:0000488 | Retinopathy | |
Show
|
| HP:0000505 | Impaired vision | |
Show
|
| HP:0000508 | Ptosis | "Drooping of the eyelid." [HPO:curators] |
Show
|
| HP:0000529 | Progressive visual loss | |
Show
|
| HP:0000573 | Retinal hemorrhage | |
Show
|
| HP:0000625 | Eyelid, cleft | "A short discontinuity of the margin of the lower or upper eyelid." [pmid:19125427] |
Show
|
| HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
Show
|
| HP:0000708 | Behavioural/Psychiatric Abnormality | |
Show
|
| HP:0000726 | Dementia | |
Show
|
| 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] |
Show
|
| HP:0000967 | Petechiae | |
Show
|
| 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] |
Show
|
| HP:0001063 | Acrocyanosis | |
Show
|
| HP:0001147 | Retinal exudates | |
Show
|
| 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] |
Show
|
| 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] |
Show
|
| 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] |
Show
|
| HP:0001260 | Dysarthria | "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [HPO:curators] |
Show
|
| 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] |
Show
|
| HP:0001268 | Mental deterioration | |
Show
|
| HP:0001269 | Hemiparesis | "Relatively mild weakness in the arm, leg, and in some cases the face on one side of the body." [HPO:curators] |
Show
|
| HP:0001297 | Stroke | |
Show
|
| HP:0001332 | Dystonia | "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk." [HPO:curators] |
Show
|
| HP:0001357 | Plagiocephaly | "An asymmetric head shape often resulting from premature closure of only one of the coronal sutures." [HPO:curators] |
Show
|
| HP:0001413 | Micronodular cirrhosis | |
Show
|
| HP:0001433 | Hepatosplenomegaly | |
Show
|
| HP:0001597 | Abnormality of the nails | "Abnormality of the fingernails or toenails." [HPO:curators] |
Show
|
| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
Show
|
| HP:0001873 | Thrombocytopenia | |
Show
|
| HP:0001945 | Fever | |
Show
|
| HP:0002059 | Cerebral atrophy | |
Show
|
| HP:0002062 | Abnormality of the pyramidal tracts | "An abnormality of the pyramidal system of motor neurons, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts." [HPO:curators] |
Show
|
| HP:0002071 | Extrapyramidal signs | |
Show
|
| HP:0002076 | Migraine | |
Show
|
| HP:0002132 | Porencephaly | |
Show
|
| HP:0002135 | Basal ganglia calcification | "Calcification affecting one or more structures of the basal ganglia." [HPO:curators] |
Show
|
| HP:0002139 | Arrhinencephaly | |
Show
|
| HP:0002186 | Apraxia | "A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements." [HPO:curators] |
Show
|
| HP:0002187 | Mental retardation, profound | "Severe mental retardation is defined as an intelligence quotient (IQ) below 20." [HPO:curators] |
Show
|
| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
Show
|
| HP:0002352 | Leukoencephalopathy | |
Show
|
| HP:0002395 | Lower limb hyperreflexia | |
Show
|
| HP:0002415 | Leukodystrophy | |
Show
|
| HP:0002421 | Poor head control | |
Show
|
| HP:0002448 | Encephalopathy, progressive | |
Show
|
| HP:0002518 | Periventricular white matter changes | |
Show
|
| HP:0002829 | Arthralgia | |
Show
|
| HP:0002910 | Elevated transaminases | "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:curators] |
Show
|
| HP:0003474 | Sensory impairment | |
Show
|
| HP:0003493 | Antinuclear antibody positive | |
Show
|
| HP:0003565 | Elevated erythrocyte sedimentation rate | |
Show
|
| HP:0003581 | Onset in adulthood | |
Show
|
| HP:0003621 | Juvenile onset | |
Show
|
| HP:0003676 | Progressive disorder | |
Show
|
| HP:0004374 | Hemiplegia/hemiparesis | "Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength." [HPO:curators] |
Show
|
| HP:0004394 | Multiple gastric polyps | |
Show
|
| HP:0006579 | Prolonged neonatal jaundice | |
Show
|
| HP:0007009 | Central nervous system degeneration | |
Show
|
| HP:0007017 | Progressive forgetfulness | |
Show
|
| HP:0007042 | Focal white matter lesions | |
Show
|
| HP:0007321 | Deep white matter hypodensities | |
Show
|
| HP:0008046 | Abnormality of the retinal vasculature | |
Show
|
| HP:0008872 | Feeding problems in infancy | |
Show
|
| HP:0008936 | Muscular hypotonia of the trunk | "Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk." [HPO:curators] |
Show
|
| HP:0009704 | Chronic CSF lymphocytosis | "Chronic cerebrospinal fluid (CSF) lymphocytosis is defined as the finding, in at least two serial CSF examinations, of more than 5 cells per cubic millimeter." [HPO:curators] |
Show
|
| HP:0009709 | Increased CSF interferon alpha | "Increased concentration of interferon alpha in the cerebrospinal fluid (CSF)." [HPO:curators] |
Show
|
| HP:0009710 | Chilblain lesions | "Chilblains are acral ulcers." [HPO:curators] |
Show
|
| HP:0009763 | Limb pain | "Chronic pain in the limbs with no clear focal etiology." [HPO:curators] |
Show
|
| HP:0030880 | Raynaud phenomenon | |
Show
|
| HP:0040049 | Macular edema | |
Show
|
| HP:0100820 | Glomerulopathy | "Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron." [HPO:sdoelken] |
Show
|
| HP:0200029 | vasculitis in the skin | |
Show
|
| HP:0200030 | punctate vasculitis skin lesions | |
Show
|
| HP:0200042 | skin ulcer | "A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat." [HPO:SKOEHLER] |
Show
|
