{"Name":"Citrullinemia type II","DiseaseID__c":"GARD:0010215","id":10215,"encodedName":"citrullinemia-type-ii","IsDeleted":false,"Disease_Name_Full__c":"Citrullinemia type II","Xref_IDs__c":"716863007; C150603; C1863844; MEDGEN:350276; MONDO:0016603; ORPHA:247585","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016603","Disease_Description__c":"A severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma.","GARD_Name__c":"Citrullinemia type II","GARD_Synonym__c":"adult onset citrin deficiency; adult onset type 2 citrullinemia; adult-onset citrin deficiency; adult-onset citrullinemia type 2; adult-onset citrullinemia type ii; adult-onset type 2 citrullinemia; adult-onset type ii citrullinemia; citrullinemia type 2; ctln2","Curated_Disease_Description_Source__c":"GARD:0010215","Curated_Disease_Description__c":"Citrullinemia type II is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. The condition chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. These signs and symptoms can be life-threatening. The signs and symptoms appear during adulthood and are triggered by certain medications, infections, surgery, and alcohol intake. The features of adult-onset type II citrullinemia may also develop in people who as infants had a liver disorder called neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). In many cases, the signs and symptoms of NICCD resolve within a year. Years or even decades later, however, some of these people develop the characteristic features of adult-onset type II citrullinemia. Adult-onset Citrullinemia type II is caused by genetic changes in the SLC25A13 gene. This condition is inherited in an autosomal recessive pattern.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:247585","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016603","ORPHANET_ID__c":"ORPHA:247585","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Citrulinemia tipo ii","Spanish_Description_Source__c":"ORPHA:247585","Spanish_Description__c":"Es un subtipo grave del déficit de citrina que se caracteriza clínicamente por su aparición en la edad adulta (entre los 20 y los 50 años de edad), episodios recurrentes de hiperamonemia y síntomas neuropsiquiátricos asociados, tales como delirio nocturno, confusión, inquietud, desorientación, modorra, pérdida de memoria, comportamiento anómalo (agresividad, irritabilidad e hiperactividad), convulsiones y coma.","Spanish_Disease_Name__c":"citrulinemia tipo ii","Spanish_GARD_Synonym__c":"citrulinemia tipo 2; citrulinemia tipo 2 de inicio en el adulto; citrulinemia tipo ii de inicio en el adulto; ctln2","Category_Linearization__c":"ORPHA:68367","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":"Citrullinemia type II is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. The condition chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. These signs and symptoms can be life-threatening. The signs and symptoms appear during adulthood and are triggered by certain medications, infections, surgery, and alcohol intake. The features of adult-onset type II citrullinemia may also develop in people who as infants had a liver disorder called neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). In many cases, the signs and symptoms of NICCD resolve within a year. Years or even decades later, however, some of these people develop the characteristic features of adult-onset type II citrullinemia. Adult-onset Citrullinemia type II is caused by genetic changes in the SLC25A13 gene. This condition is inherited in an autosomal recessive pattern.","Curated_Disease_Description_Source__c":"GARD:0010215","GARD_Synonym__c":"adult onset citrin deficiency; adult onset type 2 citrullinemia; adult-onset citrin deficiency; adult-onset citrullinemia type 2; adult-onset citrullinemia type ii; adult-onset type 2 citrullinemia; adult-onset type ii citrullinemia; citrullinemia type 2; ctln2","Name":"Citrullinemia type II","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Citrin Foundation","Website__c":"https://patient.citrinfoundation.org/en/"},{"Account_Name__c":"National Urea Cycle Disorders Foundation","Website__c":"https://nucdf.org/"},{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"},{"Account_Name__c":"Save Babies Through Screening Foundation, Inc","Website__c":"https://savebabies.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":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:247585"}],"Diagnosis__c":[{"Type__c":"NEWBORN","Category__c":"Secondary","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/CIT-II"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010215","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1181","Source__c":"Gene Review","Xref__c":"NBK1181"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1863844","Source__c":"C1863844","Xref__c":"C1863844"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=350276","Source__c":"C1863844","Xref__c":"MEDGEN:350276"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=716863007","Source__c":"C1863844; MONDO:0016603","Xref__c":"716863007"},{"URL__c":"https://www.orpha.net/en/disease/detail/247585","Source__c":"C1863844; MONDO:0016603; ORPHA:247585","Xref__c":"ORPHA:247585"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C150603","Source__c":"C1863844; MONDO:0016603","Xref__c":"C150603"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016603","Source__c":"GARD:0010215","Xref__c":"MONDO:0016603"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLC25A13","GHR_URL__c":"https://medlineplus.gov/genetics/gene/slc25a13","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:247585","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Steatosis is a term used to denote lipid accumulation within hepatocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001397","HPO_Synonym__c":"Fatty infiltration of liver; Fatty liver; Liver steatosis; Steatosis","HPO_Name__c":"Hepatic steatosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:247585","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002014","HPO_Synonym__c":"Diarrhea; Watery stool","HPO_Name__c":"Diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:247585","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal increase in the level of triglycerides in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002155","HPO_Synonym__c":"Increased circulating Tg levels; Increased plasma Tg levels; Increased plasma triglycerides; Increased serum triglycerides; Increased triglycerides","HPO_Name__c":"Hypertriglyceridemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:247585","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A state of sudden and severe confusion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031258","HPO_Synonym__c":"Altered consciousness or cognition","HPO_Name__c":"Delirium","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:247585","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A decreased concentration of protein in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003075","HPO_Synonym__c":"Decreased protein levels in blood","HPO_Name__c":"Hypoproteinemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:247585","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:247585","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased concentration of cholesterol in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003124","HPO_Synonym__c":"Elevated serum cholesterol; Elevated total cholesterol; Increased total cholesterol","HPO_Name__c":"Hypercholesterolemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:247585","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Autonomic arousal, screaming, sweating, crying, outbursts during sleep, usually no recollection at the individual level; typically observed by others.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030765","HPO_Synonym__c":"Night terror; Pavor nocturnus; Sleep terrors; Waking up screaming","HPO_Name__c":"Sleep terror","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:247585","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:247585","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of inflammation in the pancreas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001733","HPO_Synonym__c":"Pancreatic inflammation","HPO_Name__c":"Pancreatitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:247585","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001402","HPO_Name__c":"Hepatocellular carcinoma","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:247585","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Echolalia is the automatic imitative repetition of sounds, words, or phrases in the absence of explicit awareness. The repeated words or phrases are typically odd or used in a non-social manner. These can be words or phrases that the affected individual has heard or invented.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010529","HPO_Synonym__c":"Echoing another person's speech; Echologia; Echophrasia; Repeated speech","HPO_Name__c":"Echolalia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:247585","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An elevated lipid concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003077","HPO_Synonym__c":"Elevated lipids in blood","HPO_Name__c":"Hyperlipidemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:247585","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Lack of clarity and coherence of thought, perception, understanding, or action.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001289","HPO_Synonym__c":"Confusion; Disorientation; Easily confused; Mental disorientation","HPO_Name__c":"Confusion","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:247585","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A delusion is a fixed false belief held despite evidence to the contrary. The term delusion broadly encompasses all false judgments that possess the following external characteristics to a significant, albeit unspecified, extent: (1) they are held with an exceptional level of conviction, accompanied by an unparalleled subjective certainty; (2) there is an inability to consider alternative experiences or compelling counter-arguments; (3) the content of the belief is impossible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000746","HPO_Synonym__c":"Delusions","HPO_Name__c":"Delusion","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:247585","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unintentional, oscillating to-and-fro muscle movement about a joint axis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001337","HPO_Synonym__c":"Tremor; Tremors","HPO_Name__c":"Tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:247585","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000709","HPO_Synonym__c":"Psychosis","HPO_Name__c":"Psychosis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:247585","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of citrulline in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011966","HPO_Name__c":"Elevated plasma citrulline","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:247585","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal feeling of sleepiness or difficulty staying awake.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002329","HPO_Synonym__c":"Abnormal drowsiness; Drowsiness; Sleepiness; Sleepy; Somnolence","HPO_Name__c":"Drowsiness","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:247585","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"First period after the age of 15 years.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012569","HPO_Synonym__c":"Delayed start of first period","HPO_Name__c":"Delayed menarche","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:247585","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001259","HPO_Synonym__c":"Coma; Persistent vegetative state; Stupor; Unconsciousness","HPO_Name__c":"Coma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:247585","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000805","HPO_Name__c":"Enuresis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:247585","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002480","HPO_Name__c":"Hepatic encephalopathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:247585","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:247585","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001254","HPO_Synonym__c":"Dullness; Inaction; Inactivity; Languor; Lethargy; Slowness; Torpor","HPO_Name__c":"Lethargy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:247585","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"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_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002910","HPO_Synonym__c":"Abnormal liver enzymes; Abnormal liver function; Abnormal liver function tests; Elevated circulating hepatic transaminase activity; Elevated liver enzymes; Elevated serum transaminases; Elevated transaminases; High liver enzymes; Increased liver enzymes; Increased liver function tests; Increased transaminases; Raised liver enzymes; Subclinical abnormal liver function tests","HPO_Name__c":"Elevated circulating hepatic transaminase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:247585","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally decreased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of underweight compared to averages.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045082","HPO_Synonym__c":"Decreased BMI","HPO_Name__c":"Decreased body mass index","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:247585","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An emotional state characterized by negative feelings of heightened frustration, annoyance, or feeling upset, often triggered by internal factors (e.g., fatigue, hunger, unfulfilled desires) or external factors (e.g., social or environmental challenges). Irritability may be unpredictable, and is accompanied by a lowered threshold for emotional reactivity and observable features (speech, facial expressions, or psychomotor activity).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000737","HPO_Synonym__c":"Cranky; Easily annoyed; Easily bothered; Easily upset; Grumpy; Hot-temper; Irritability; Irritable; Irritable mood; On edge; Quick-temper; Short fuse; Short tempered","HPO_Name__c":"Irritability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:247585","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001395","HPO_Synonym__c":"Liver fibrosis","HPO_Name__c":"Hepatic fibrosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:247585","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An decreased concentration of high-density lipoprotein cholesterol in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003233","HPO_Synonym__c":"Decreased circulating high-density lipoprotein cholesterol; Decreased circulating high-density lipoprotein levels; Decreased HDL cholesterol; Hypoalphalipoproteinemia; Low HDL-cholesterol","HPO_Name__c":"Decreased HDL cholesterol concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:247585","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000752","HPO_Synonym__c":"Hyperactive behavior; 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