{"Name":"Fatal familial insomnia","DiseaseID__c":"GARD:0006429","id":6429,"encodedName":"fatal-familial-insomnia","IsDeleted":false,"Disease_Name_Full__c":"Fatal familial insomnia","Xref_IDs__c":"423022949; 83157008; A81.83; C0206042; C84711; D034062; DOID:0050433; MEDGEN:104768; MONDO:0010808; OMIM:600072; ORPHA:466","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010808","Disease_Description__c":"A rare inherited human prion disease characterized by adult onset of progressive disturbance and loss of circadian rhythms, dysautonomia with increased sympathetic activity, and cognitive impairment with fluctuating vigilance, impaired long-term memory, disorientation, and oneiric states. Motor disturbances include myoclonus, cerebellar ataxia, and pyramidal signs. The disease rapidly leads to a somnolent or comatose state and is typically fatal after 9 or 30 months on average (bimodal course). Neuropathologic examination shows marked neuronal loss and gliosis predominantly in thalamic nuclei and inferior olives, while deposition of abnormal prion protein may be relatively sparse.","GARD_Name__c":"Fatal familial insomnia","GARD_Synonym__c":"familial fatal insomnia; ffi; ffi - familial fatal insomnia","Curated_Disease_Description_Source__c":"GARD:0006429","Curated_Disease_Description__c":"Fatal familial insomnia (FFI) affects the thalamus, the part of the brain that controls the sleep-wake cycle. The most common symptoms are sleep disturbance, psychiatric problems, weight loss, and balance problems. Other symptoms include high blood pressure, excess sweating, and difficulty controlling body temperature. These symptoms tend to get worse over time. Almost all cases of FFI occur due to a specific variant in the PRNP gene and are inherited in an autosomal dominant pattern. Diagnosis is based on the symptoms, clinical exam, sleep study, and imaging studies. The results of genetic testing can help confirm the diagnosis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:466","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010808","ORPHANET_ID__c":"ORPHA:466","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Insomnio familiar fatal","Spanish_Description_Source__c":"ORPHA:466","Spanish_Description__c":"Es una enfermedad priónica humana hereditaria poco frecuente que se caracteriza por la aparición en la edad adulta de una alteración y pérdida progresiva de los ritmos circadianos, disautonomía con aumento de la actividad simpática y afectación cognitiva con fluctuaciones de la vigilancia, pérdida de la memoria a largo plazo, desorientación y estados oníricos. Las alteraciones motoras incluyen mioclonías, ataxia cerebelosa y signos piramidales. La enfermedad conduce rápidamente a un estado somnoliento o comatoso y suele ser mortal al cabo de 9 ó 30 meses de media (curso bimodal). El examen neuropatológico muestra una marcada pérdida neuronal y gliosis predominantemente en los núcleos talámicos y olivares inferiores, mientras que el depósito de la proteína priónica anómala puede ser relativamente escaso.","Spanish_Disease_Name__c":"insomnio familiar fatal","Spanish_GARD_Synonym__c":"iff","Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Fatal familial insomnia (FFI) affects the thalamus, the part of the brain that controls the sleep-wake cycle. The most common symptoms are sleep disturbance, psychiatric problems, weight loss, and balance problems. Other symptoms include high blood pressure, excess sweating, and difficulty controlling body temperature. These symptoms tend to get worse over time. Almost all cases of FFI occur due to a specific variant in the PRNP gene and are inherited in an autosomal dominant pattern. Diagnosis is based on the symptoms, clinical exam, sleep study, and imaging studies. The results of genetic testing can help confirm the diagnosis.","Curated_Disease_Description_Source__c":"GARD:0006429","GARD_Synonym__c":"familial fatal insomnia; ffi; ffi - familial fatal insomnia","Name":"Fatal familial insomnia","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Project Sleep","Website__c":"https://project-sleep.com/"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Creutzfeldt-Jakob Disease Foundation, Inc","Website__c":"https://cjdfoundation.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Psychiatry","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Sleep medicine","Tag_Category__c":"Specialist","curated_tag_name":"Sleep medicine"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:466"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0206042"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006429","Source__c":"RareSource"},{"URL__c":"https://ui.transltr.io/demo/disease/MONDO:0010808","Source__c":"Biomedical Data Translator","Xref__c":"10808"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1229","Source__c":"Gene Review","Xref__c":"NBK1229"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050433","Source__c":"MONDO:0010808","Xref__c":"DOID:0050433"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0206042","Source__c":"C0206042","Xref__c":"C0206042"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/A81.83","Source__c":"MONDO:0010808","Xref__c":"A81.83"},{"URL__c":"https://www.omim.org/entry/600072","Source__c":"C0206042; MONDO:0010808; ORPHA:466","Xref__c":"OMIM:600072"},{"URL__c":"https://www.orpha.net/en/disease/detail/466","Source__c":"C0206042; MONDO:0010808; ORPHA:466","Xref__c":"ORPHA:466"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=83157008","Source__c":"C0206042; MONDO:0010808","Xref__c":"83157008"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84711","Source__c":"C0206042; MONDO:0010808","Xref__c":"C84711"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C034062","Source__c":"C0206042; MONDO:0010808","Xref__c":"D034062"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=104768","Source__c":"C0206042","Xref__c":"MEDGEN:104768"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010808","Source__c":"GARD:0006429","Xref__c":"MONDO:0010808"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022949","Xref__c":"423022949"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PRNP","GHR_URL__c":"https://medlineplus.gov/genetics/gene/prnp","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:466","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An inner sense from the self that thoughts are abnormally slow and the individual feels that they are unable to increase their rate of thinking. The primary pathology is the decreased rate and other qualities of thinking (e.g. naming of objects) are intact, just slowed. This may be associated with slowed speech, but may be internal and masked by speech that is limited to brief (yes or no) answers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031843","HPO_Synonym__c":"Abnormally slow thought processes; Bradyphrenia; Mental slowness; Slow thought processes; Slowed thinking; Slowed thoughts; Slowness of thought","HPO_Name__c":"Abnormally slow thought process","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:466","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A functional abnormality of the autonomic nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012332","HPO_Synonym__c":"Autonomic dysfunction; Autonomic dysregulation; Dysautonomia","HPO_Name__c":"Abnormal autonomic nervous system physiology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:466","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Difficulty in swallowing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002015","HPO_Synonym__c":"Difficulty swallowing; Poor swallowing; Swallowing difficulties; Swallowing difficulty","HPO_Name__c":"Dysphagia","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:466","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000975","HPO_Synonym__c":"Diaphoresis; Excessive sweating; Increased sweating; Profuse sweating; Sweating; Sweating profusely; Sweating, increased","HPO_Name__c":"Hyperhidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:466","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Persistent difficulty in starting or maintaining sleep, or waking up earlier than desired, despite having adequate opportunities and conditions for sleep.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100785","HPO_Synonym__c":"Difficulty staying or falling asleep; Inability to sleep","HPO_Name__c":"Insomnia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:466","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010850","HPO_Name__c":"EEG with spike-wave complexes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:466","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality in one's ability to control their attention towards a specific subject or task can include difficulties in changing or maintaining attention.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:5200044","HPO_Name__c":"Reduced attention regulation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:466","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002071","HPO_Synonym__c":"Extrapyramidal dysfunction; Extrapyramidal signs; Extrapyramidal symptoms; Extrapyramidal syndrome; Extrapyramidal tract signs","HPO_Name__c":"Abnormality of extrapyramidal motor function","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:466","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly in the amount or timing of melatonin secretion by the pineal gland. Note that melatonin is also synthesized by multiple tissues outside of the pineal gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012689","HPO_Name__c":"Abnormal pineal melatonin secretion","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:466","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001251","HPO_Synonym__c":"Cerebellar ataxia","HPO_Name__c":"Ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:466","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"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_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001260","HPO_Synonym__c":"Difficulty articulating speech; Dysarthric speech","HPO_Name__c":"Dysarthria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:466","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Perceptions in a conscious and awake state that, in the absence of external stimuli, have qualities of real perception. These perceptions are vivid, substantial, and located in external objective space.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000738","HPO_Synonym__c":"Hallucination; Hallucinations; Sensory hallucination","HPO_Name__c":"Hallucinations","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:466","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000651","HPO_Synonym__c":"Double vision","HPO_Name__c":"Diplopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:466","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of chronic increased pressure in the systemic arterial system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000822","HPO_Synonym__c":"Arterial hypertension; Systemic hypertension","HPO_Name__c":"Hypertension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:466","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000712","HPO_Name__c":"Emotional lability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:466","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100543","HPO_Synonym__c":"Abnormality of cognition; Cognitive abnormality; Cognitive defects; Cognitive deficits; Cognitive impairment; Intellectual impairment","HPO_Name__c":"Cognitive impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:466","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An intermittent cessation of airflow at the mouth and nose during sleep is known as sleep apnea. Apneas that last at least 10 seconds are considered significant, but individuals with sleep apnea may experience apneas lasting from 20 seconds up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010535","HPO_Synonym__c":"Pauses in breathing while sleeping; Sleep apnea; Sleep apnoea","HPO_Name__c":"Sleep apnea","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:466","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000726","HPO_Synonym__c":"Dementia; Dementia, progressive; Progressive dementia","HPO_Name__c":"Dementia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:466","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:5200360","HPO_Synonym__c":"Short rapid eye movement sleep","HPO_Name__c":"Short REM sleep","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:466","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Functional neurological abnormalities related to dysfunction of the pyramidal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007256","HPO_Synonym__c":"Corticospinal signs; Pyramidal signs; Pyramidal tract signs","HPO_Name__c":"Abnormal pyramidal sign","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:466","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000739","HPO_Synonym__c":"Anxiety; Anxiousness; Excessive, persistent worry and fear","HPO_Name__c":"Anxiety","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:466","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of an individual's circadian rhythm that affects the timing of sleeping and being awake is referred to as a sleep-wake disorder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006979","HPO_Synonym__c":"Internal-clock disorders; Sleep phase disturbance; Sleep-wake cycle disorders; Sleep-wake cycle disturbance; Sleep-wake mistiming","HPO_Name__c":"Sleep-wake cycle disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:466","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002371","HPO_Synonym__c":"Loss of speech","HPO_Name__c":"Loss of speech","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:466","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduction of total body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001824","HPO_Synonym__c":"Loss of weight","HPO_Name__c":"Weight loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:466","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000716","HPO_Synonym__c":"Depression; Depressive episode; Depressivity","HPO_Name__c":"Depression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:466","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal high-pitched noisy sound, occurring during inhalation or exhalation caused by the incomplete obstruction in the throat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006511","HPO_Synonym__c":"Laryngeal stidor","HPO_Name__c":"Laryngeal stridor","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:466","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Infrequent or difficult evacuation of feces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002019","HPO_Synonym__c":"Constipation; Costiveness; Dyschezia","HPO_Name__c":"Constipation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:466","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased lacrimation, that is, excessive tearing (watering eye).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009926","HPO_Synonym__c":"Increased lacrimation; Increased tears; Tearing; Watery eyes","HPO_Name__c":"Epiphora","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:466","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Body temperature elevated above the normal range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001945","HPO_Synonym__c":"Fever; Hyperthermia; Pyrexia","HPO_Name__c":"Fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:466","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001336","HPO_Synonym__c":"Myoclonic jerks","HPO_Name__c":"Myoclonus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:466","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003118","HPO_Synonym__c":"Cushing syndrome; Hypercortisolism; Increased circulating cortisol level; Increased cortisol production","HPO_Name__c":"Increased circulating cortisol level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:466","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A rapid heartrate that exceeds the range of the normal resting heartrate for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001649","HPO_Synonym__c":"Fast heart rate; Heart racing; Racing heart","HPO_Name__c":"Tachycardia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:466","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the thalamus as measured by positron emission tomography (PET) brain scan.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012660","HPO_Name__c":"Thalamic hypometabolism in FDG PET","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Imaging_PET"}},{"Provided_By__c":"ORPHA:466","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A deficit in the retention of pieces of information (memory chunks) for a relatively short time (usually up to 30 seconds).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033687","HPO_Synonym__c":"Short term memory loss","HPO_Name__c":"Short term memory impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Psychiatry","Sleep medicine"]},"synonyms":["familial fatal insomnia"," ffi"," ffi - familial fatal insomnia"],"spanishId":13176,"spanishName":"insomnio-familiar-fatal"}