{"Name":"Ornithine carbamoyltransferase deficiency","DiseaseID__c":"GARD:0008391","id":8391,"encodedName":"ornithine-carbamoyltransferase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Ornithine carbamoyltransferase deficiency","Xref_IDs__c":"423022250; 80908008; C0268542; C84957; D020163; DOID:9271; MEDGEN:75692; MONDO:0010703; OMIM:311250; ORPHA:664","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010703","Disease_Description__c":"A rare, genetic disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found mainly in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological sequelae.","GARD_Name__c":"Ornithine carbamoyltransferase deficiency","GARD_Synonym__c":"deficiency of citrulline phosphorylase; deficiency of ornithine carbamoyltransferase; deficiency of ornithine transcarbamylase; oct (ornithine carbamoyltransferase) deficiency; oct deficiency; ornithine carbamoyltransferase deficiency disease; ornithine transcarbamoylase deficiency; ornithine transcarbamylase deficiency; ornithine transcarbamylase deficiency, hyperammonemia due to; otc (ornithine transcarbamylase) deficiency; otc deficiency; otc-gene related ornithine carbamoyltransferase deficiency; otcd","Curated_Disease_Description_Source__c":"GARD:0008391","Curated_Disease_Description__c":"Ornithine transcarbamylase (OTC) deficiency is a genetic disease that causes too much ammonia to accumulate in the blood (hyperammonemia). Ammonia is toxic when levels are too high and especially affects the nervous system. Signs and symptoms of this form may include lack of energy and appetite, poorly-controlled breathing rate and body temperature, unusual body movements, seizures, or coma. This form occurs in both males and females. OTC is caused by genetic changes in the OTC gene and inheritance is X-linked.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:664","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010703","ORPHANET_ID__c":"ORPHA:664","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de ornitina transcarbamilasa","Spanish_Description_Source__c":"ORPHA:664","Spanish_Description__c":"Es un trastorno del metabolismo del ciclo de la urea y de la detoxificación de amonio, de origen genético y poco frecuente, caracterizado por una enfermedad grave de inicio neonatal descrita principalmente en varones, o por formas de la enfermedad de inicio tardío (parciales). Ambas formas se presentan con episodios de hiperamonemia que pueden ser letales o derivar en secuelas neurológicas.","Spanish_Disease_Name__c":"deficiencia de ornitina transcarbamilasa","Spanish_GARD_Synonym__c":"deficiencia de oct; deficiencia de ornitina carbamil transferasa; deficiencia de otc","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":"Ornithine transcarbamylase (OTC) deficiency is a genetic disease that causes too much ammonia to accumulate in the blood (hyperammonemia). Ammonia is toxic when levels are too high and especially affects the nervous system. Signs and symptoms of this form may include lack of energy and appetite, poorly-controlled breathing rate and body temperature, unusual body movements, seizures, or coma. This form occurs in both males and females. OTC is caused by genetic changes in the OTC gene and inheritance is X-linked.","Curated_Disease_Description_Source__c":"GARD:0008391","GARD_Synonym__c":"deficiency of citrulline phosphorylase; deficiency of ornithine carbamoyltransferase; deficiency of ornithine transcarbamylase; oct (ornithine carbamoyltransferase) deficiency; oct deficiency; ornithine carbamoyltransferase deficiency disease; ornithine transcarbamoylase deficiency; ornithine transcarbamylase deficiency; ornithine transcarbamylase deficiency, hyperammonemia due to; otc (ornithine transcarbamylase) deficiency; otc deficiency; otc-gene related ornithine carbamoyltransferase deficiency; otcd","Name":"Ornithine carbamoyltransferase deficiency","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"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":"Amigos Metabólicos","Website__c":"http://www.amigosmetabolicos.org/"},{"Account_Name__c":"Asociación Española para el Estudio de los Errores Congénitos del Metabolismo","Website__c":"www.aecom.com.es"},{"Account_Name__c":"Federación Española de Enfermedades Metabólicas Hereditarias","Website__c":"https://metabolicos.es/"},{"Account_Name__c":"Asociación Puertorriqueña de Genética y Metabolismo","Website__c":"http://www.geneticapur.org/quees.html"},{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"},{"Account_Name__c":"National Urea Cycle Disorders Foundation","Website__c":"https://nucdf.org/"},{"Account_Name__c":"The Brí Foundation","Website__c":"www.thebrifoundation.com/"}],"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":"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"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:664"}],"Diagnosis__c":[{"Type__c":"NEWBORN","Category__c":"Other","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/OTC"},{"Type__c":"GTR","Curie__c":"MEDGEN:C0268542"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008391","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1217","Xref__c":"NBK1217"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK154378","Source__c":"Gene Review","Xref__c":"NBK154378"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C020163","Source__c":"C0268542; MONDO:0010703","Xref__c":"D020163"},{"URL__c":"https://www.orpha.net/en/disease/detail/664","Source__c":"C0268542; MONDO:0010703; ORPHA:664","Xref__c":"ORPHA:664"},{"URL__c":"https://www.omim.org/entry/311250","Source__c":"C0268542; MONDO:0010703; ORPHA:664","Xref__c":"OMIM:311250"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268542","Source__c":"C0268542","Xref__c":"C0268542"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75692","Source__c":"C0268542","Xref__c":"MEDGEN:75692"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=80908008","Source__c":"C0268542; MONDO:0010703","Xref__c":"80908008"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A9271","Source__c":"MONDO:0010703","Xref__c":"DOID:9271"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84957","Source__c":"C0268542; MONDO:0010703","Xref__c":"C84957"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010703","Source__c":"GARD:0008391","Xref__c":"MONDO:0010703"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022250","Xref__c":"423022250"},{"URL__c":"https://medlineplus.gov/genetics/condition/ornithine-transcarbamylase-deficiency"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"OTC","GHR_URL__c":"https://medlineplus.gov/genetics/gene/otc","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:664","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced body temperature due to failed thermoregulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002045","HPO_Synonym__c":"Abnormally low body temperature; Hypothermia","HPO_Name__c":"Hypothermia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:664","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decreased concentration of glucose in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001943","HPO_Synonym__c":"Hypoglycaemia; Low blood sugar","HPO_Name__c":"Hypoglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:664","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of an amino acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003355","HPO_Synonym__c":"High urine amino acid levels; Hyperaminoaciduria; Increased levels of animo acids in urine","HPO_Name__c":"Aminoaciduria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:664","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:664","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:664","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002908","HPO_Synonym__c":"Direct hyperbilirubinemia","HPO_Name__c":"Conjugated hyperbilirubinemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:664","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased concentration of orotic acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003218","HPO_Synonym__c":"High urine orotic acid levels; Increased urinary orotic acid concentration","HPO_Name__c":"Oroticaciduria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:664","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002033","HPO_Synonym__c":"Poor suck; Poor sucking; Sucking weakness","HPO_Name__c":"Poor suck","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:664","HPO_Frequency__c":"Occasional (5-29%)","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:664","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:664","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:664","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:664","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002038","HPO_Name__c":"Protein avoidance","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:664","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001298","HPO_Name__c":"Encephalopathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:664","HPO_Frequency__c":"Frequent (30-79%)","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:664","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003645","HPO_Synonym__c":"Abnormal partial thromboplastin time; Delayed thromboplastin generation; Partial thromboplastin time prolonged; Prolonged activated partial thromboplastin time; Prolonged PTT","HPO_Name__c":"Prolonged partial thromboplastin time","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:664","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Alkalosis due to excess loss of carbon dioxide from the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001950","HPO_Name__c":"Respiratory alkalosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:664","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A decreased concentration of arginine in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005961","HPO_Synonym__c":"Low blood arginine levels","HPO_Name__c":"Hypoargininemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:664","HPO_Frequency__c":"Occasional (5-29%)","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:664","HPO_Frequency__c":"Occasional (5-29%)","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:664","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001399","HPO_Synonym__c":"Hepatic insufficiency; Liver failure","HPO_Name__c":"Hepatic failure","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:664","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001328","HPO_Name__c":"Specific learning disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:664","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Paroxysmal, recurrent episodes of vomiting.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002572","HPO_Synonym__c":"Episodic vomiting","HPO_Name__c":"Episodic vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:664","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:664","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Lack of desire to eat (loss of appetite).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002039","HPO_Synonym__c":"Anorexia; Deliberately not eating; Obsessive dieting; Refusing to eat","HPO_Name__c":"Anorexia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:664","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of ammonia in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001987","HPO_Synonym__c":"High blood ammonia levels","HPO_Name__c":"Hyperammonemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:664","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A decreased concentration of citrulline in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003572","HPO_Name__c":"Low plasma citrulline","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:664","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:664","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007018","HPO_Synonym__c":"ADHD; Attention deficit; Attention deficit disorder; Attention deficit-hyperactivity disorder; Attention deficits; Childhood attention deficit/hyperactivity disorder","HPO_Name__c":"Attention deficit hyperactivity disorder","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["deficiency of citrulline phosphorylase"," deficiency of ornithine carbamoyltransferase"," deficiency of ornithine transcarbamylase"," oct (ornithine carbamoyltransferase) deficiency"," oct deficiency"," ornithine carbamoyltransferase deficiency disease"," ornithine transcarbamoylase deficiency"," ornithine transcarbamylase deficiency"," ornithine transcarbamylase deficiency, hyperammonemia due to"," otc (ornithine transcarbamylase) deficiency"," otc deficiency"," otc-gene related ornithine carbamoyltransferase deficiency"," otcd"],"spanishId":11995,"spanishName":"deficit-de-ornitina-transcarbamilasa"}