{"Name":"Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome","DiseaseID__c":"GARD:0002830","id":2830,"encodedName":"hyperornithinemia-hyperammonemia-homocitrullinuria-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome","Xref_IDs__c":"30287008; C0268540; C129029; C538380; DOID:0050720; MEDGEN:82815; MONDO:0009393; NBK97260; OMIM:238970; ORPHA:415","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":5,"Description_Source__c":"MONDO:0009393","Disease_Description__c":"A rare, genetic disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or coagulation defects or other chronic liver dysfunction.","GARD_Name__c":"Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome","GARD_Synonym__c":"hhh - hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; hhh syndrome; hhhs; hyperornithinemia-hyperammonemia-homocitrullinemia syndrome; hyperornithinemia-hyperammonemia-homocitrullinuria (hhh) syndrome; ornithine carrier deficiency; ornithine translocase deficiency; ornt1 deficiency; slc25a15-gene related hyperornithinemia, hyperammonemia, homocitrullinuria syndrome; solute carrier family 25 member 15-gene related hyperornithinemia, hyperammonemia, homocitrullinuria syndrome; triple h syndrome","Curated_Disease_Description_Source__c":"MONDO:0009393","Curated_Disease_Description__c":"A rare, genetic disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or coagulation defects or other chronic liver dysfunction.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:415","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009393","ORPHANET_ID__c":"ORPHA:415","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hiperornitinemia-hiperamonemia-homocitrulinuria","Spanish_Description_Source__c":"ORPHA:415","Spanish_Description__c":"Es un trastorno de origen genético y poco frecuente del ciclo de la urea caracterizado por un inicio neonatal con manifestaciones de letargia, problemas de alimentación, vómitos y taquipnea o, más frecuentemente, por presentación en el periodo de lactante, infancia o en edad adulta, con deficiencias neurocognitivas crónicas, encefalopatía aguda y/o trastornos de la coagulación u otras disfunciones hepáticas crónicas.","Spanish_Disease_Name__c":"síndrome de hiperornitinemia-hiperamonemia-homocitrulinuria","Spanish_GARD_Synonym__c":"deficiencia de ornitina translocasa; deficiencia de ornt1; deficiencia del transportador de la ornitina; síndrome de la triple h; síndrome hhh","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":"A rare, genetic disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or coagulation defects or other chronic liver dysfunction.","Curated_Disease_Description_Source__c":"MONDO:0009393","GARD_Synonym__c":"hhh - hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; hhh syndrome; hhhs; hyperornithinemia-hyperammonemia-homocitrullinemia syndrome; hyperornithinemia-hyperammonemia-homocitrullinuria (hhh) syndrome; ornithine carrier deficiency; ornithine translocase deficiency; ornt1 deficiency; slc25a15-gene related hyperornithinemia, hyperammonemia, homocitrullinuria syndrome; solute carrier family 25 member 15-gene related hyperornithinemia, hyperammonemia, homocitrullinuria syndrome; triple h syndrome","Name":"Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"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"}],"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":"Adult","Provided_By__c":"ORPHA:415"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:415"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:415"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:415"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:415"}],"Diagnosis__c":[{"Type__c":"NEWBORN","Category__c":"Other","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/HHH"},{"Type__c":"GTR","Curie__c":"MEDGEN:C0268540"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002830","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK97260","Source__c":"Gene Review","Xref__c":"NBK97260"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=30287008","Source__c":"C0268540; MONDO:0009393","Xref__c":"30287008"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=82815","Source__c":"C0268540","Xref__c":"MEDGEN:82815"},{"URL__c":"https://www.omim.org/entry/238970","Source__c":"C0268540; MONDO:0009393; ORPHA:415","Xref__c":"OMIM:238970"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268540","Source__c":"C0268540","Xref__c":"C0268540"},{"URL__c":"https://www.orpha.net/en/disease/detail/415","Source__c":"C0268540; MONDO:0009393; ORPHA:415","Xref__c":"ORPHA:415"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050720","Source__c":"MONDO:0009393","Xref__c":"DOID:0050720"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C129029","Source__c":"C0268540; MONDO:0009393","Xref__c":"C129029"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538380","Source__c":"MONDO:0009393","Xref__c":"C538380"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009393","Source__c":"GARD:0002830","Xref__c":"MONDO:0009393"},{"URL__c":"https://medlineplus.gov/genetics/condition/ornithine-translocase-deficiency"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLC25A15","GHR_URL__c":"https://medlineplus.gov/genetics/gene/slc25a15","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:415","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:415","HPO_Frequency__c":"Frequent (30-79%)","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:415","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:415","HPO_Frequency__c":"Frequent (30-79%)","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:415","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:415","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased concentration of ornithine in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012026","HPO_Synonym__c":"High blood ornithine levels","HPO_Name__c":"Hyperornithinemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:415","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006846","HPO_Name__c":"Acute encephalopathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:415","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002123","HPO_Synonym__c":"Generalised epileptic myoclonus; Generalised myoclonic seizure; Generalized epileptic myoclonus; Generalized myoclonic seizures; Myoclonus seizures","HPO_Name__c":"Generalized myoclonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:415","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:415","HPO_Frequency__c":"Occasional (5-29%)","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:415","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atrophy of the cortex of the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002120","HPO_Synonym__c":"Cerebral cortex atrophy; Cortical atrophy; Decrease in size of the outer layer of the brain due to loss of brain cells","HPO_Name__c":"Cerebral cortical atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:415","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:415","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:415","HPO_Frequency__c":"Frequent (30-79%)","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:415","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001347","HPO_Synonym__c":"Increased deep tendon reflexes; Increased reflexes","HPO_Name__c":"Hyperreflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:415","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002064","HPO_Synonym__c":"Spastic walk","HPO_Name__c":"Spastic gait","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:415","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Generalized muscular hypotonia (abnormally low muscle tone).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001290","HPO_Synonym__c":"Generalized decreased muscle tone; Generalized muscular hypotonia; Hypotonia, generalized","HPO_Name__c":"Generalized hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:415","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011968","HPO_Synonym__c":"Decreased oral intake; Feeding difficulties; Feeding problems; Poor feeding","HPO_Name__c":"Feeding difficulties","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:415","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal concentration of citrulline in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011965","HPO_Name__c":"Abnormal circulating citrulline concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:415","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Focal or global or heterogeneous loss of choroidal and retinal pigment epithelium (RPE) pigmentation in the absence of atrophy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040030","HPO_Name__c":"Chorioretinal hypopigmentation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:415","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced ability of the liver to perform its functions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001410","HPO_Synonym__c":"Decreased liver function; Liver dysfunction","HPO_Name__c":"Decreased liver function","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:415","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:415","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002073","HPO_Synonym__c":"Cerebellar ataxia, progressive; Progressive ataxia","HPO_Name__c":"Progressive cerebellar ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:415","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:415","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Atrophy (wasting) of the choroid and retinal layers of the fundus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000533","HPO_Synonym__c":"Chorioretinal degeneration; Chorioretinal thinning","HPO_Name__c":"Chorioretinal atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:415","HPO_Frequency__c":"Very frequent (80-99%)","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:415","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:415","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Complete loss of the ability to move the lower limbs accompanied by spasticity of the lower limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001258","HPO_Synonym__c":"Spastic paraplegia, lower limb","HPO_Name__c":"Spastic paraplegia","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:415","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007052","HPO_Name__c":"Multifocal cerebral white matter abnormalities","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:415","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012115","HPO_Synonym__c":"Liver inflammation","HPO_Name__c":"Hepatitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:415","HPO_Frequency__c":"Frequent (30-79%)","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:415","HPO_Frequency__c":"Occasional (5-29%)","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:415","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002495","HPO_Synonym__c":"Decreased vibration sense; Decreased vibratory sense; Diminished vibratory sense; Hypopallesthesia; Impaired vibratory sensation; Impaired vibratory sense","HPO_Name__c":"Impaired vibratory sensation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:415","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003256","HPO_Synonym__c":"Coagulopathy","HPO_Name__c":"Abnormality of the coagulation cascade","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:415","HPO_Frequency__c":"Uncommon (<1-4%)","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:415","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002169","HPO_Synonym__c":"Involuntary rhythmic muscular contractions and relaxations","HPO_Name__c":"Clonus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:415","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012758","HPO_Synonym__c":"NDD","HPO_Name__c":"Neurodevelopmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:415","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011098","HPO_Synonym__c":"Apraxia of speech; Verbal dyspraxia","HPO_Name__c":"Speech apraxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:415","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Very rapid breathing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002789","HPO_Synonym__c":"Increased respiratory rate or depth of breathing; Polypnea","HPO_Name__c":"Tachypnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:415","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A deficit in coordination of muscle movements. Coordination is defined as the orchestrated movement of multiple body parts as required to accomplish intended actions, like walking.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002311","HPO_Synonym__c":"Difficulties in coordination; Incoordination; Incoordination of limb movements; Limb incoordination; Poor coordination; Poor motor coordination","HPO_Name__c":"Incoordination","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":["hhh - hyperornithinemia-hyperammonemia-homocitrullinuria syndrome"," hhh syndrome"," hhhs"," hyperornithinemia-hyperammonemia-homocitrullinemia syndrome"," hyperornithinemia-hyperammonemia-homocitrullinuria (hhh) syndrome"," ornithine carrier deficiency"," ornithine translocase deficiency"," ornt1 deficiency"," slc25a15-gene related hyperornithinemia, hyperammonemia, homocitrullinuria syndrome"," solute carrier family 25 member 15-gene related hyperornithinemia, hyperammonemia, homocitrullinuria syndrome"," triple h syndrome"]}