{"Name":"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency","DiseaseID__c":"GARD:0006867","id":6867,"encodedName":"long-chain-3-hydroxyacyl-coa-dehydrogenase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency","Xref_IDs__c":"726021008; C129929; C3711645; DOID:0061186; MEDGEN:778253; MONDO:0012173; OMIM:609016; ORPHA:5","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":8,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0012173","Disease_Description__c":"A mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood of hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and, frequently, cardiac involvement with arrhythmias and/or cardiomyopathy.","GARD_Name__c":"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency","GARD_Synonym__c":"deficiency of long-chain 3-hydroxyacyl-coenzyme a dehydrogenase; fatty liver, acute, of pregnancy; hellp syndrome, maternal, of pregnancy; lchad deficiency; lchadd; lchadd - long chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency; long chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency; long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency","Curated_Disease_Description_Source__c":"GARD:0006867","Curated_Disease_Description__c":"Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of LCHAD deficiency typically appear during infancy or early childhood. Many affected infants have feeding difficulties, such as an extreme dislike of certain foods  or of eating at all (food or feeding aversion), nausea, and vomiting. Other signs and symptoms include lack of energy (lethargy), low blood glucose (hypoglycemia), weak muscle tone (hypotonia), delayed development of milestones, liver problems, and abnormalities in the light-sensitive tissue at the back of the eye (retina). Affected individuals can have impaired vision or difficulty seeing things far away (myopia) or in low light (night blindness). These vision problems worsen over time. Later in childhood, people with this condition may experience muscle pain, breakdown of muscle tissue (rhabdomyolysis), and a loss of sensation in their arms and legs (peripheral neuropathy). Infants and children with LCHAD deficiency are also at risk of serious heart problems, such as a weakened heart (cardiomyopathy) and heart failure; breathing difficulties; coma; and sudden death. Problems related to LCHAD deficiency can be triggered when the body is under stress, for example during periods of fasting, illnesses such as viral infections, or weather extremes. This disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:5","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012173","ORPHANET_ID__c":"ORPHA:5","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de 3-hidroxiacil-coa deshidrogenasa de cadena larga","Spanish_Description_Source__c":"ORPHA:5","Spanish_Description__c":"Es un trastorno mitocondrial de la oxidación de ácidos grasos de cadena larga que se caracteriza, en la mayoría de casos, por la aparición en la primera infancia o en la niñez de hipoglucemia hipocetósica, acidosis metabólica, hepatopatía, hipotonía y, con frecuencia, afectación cardiaca con arritmias, miocardiopatía o ambas cosas.","Spanish_Disease_Name__c":"deficiencia de 3-hidroxiacil-coa deshidrogenasa de cadena larga","Spanish_GARD_Synonym__c":"deficiencia de 3-hidroxiacil-coenzima a deshidrogenasa de cadena larga; deficiencia de lchad; lchadd","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":"Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of LCHAD deficiency typically appear during infancy or early childhood. Many affected infants have feeding difficulties, such as an extreme dislike of certain foods  or of eating at all (food or feeding aversion), nausea, and vomiting. Other signs and symptoms include lack of energy (lethargy), low blood glucose (hypoglycemia), weak muscle tone (hypotonia), delayed development of milestones, liver problems, and abnormalities in the light-sensitive tissue at the back of the eye (retina). Affected individuals can have impaired vision or difficulty seeing things far away (myopia) or in low light (night blindness). These vision problems worsen over time. Later in childhood, people with this condition may experience muscle pain, breakdown of muscle tissue (rhabdomyolysis), and a loss of sensation in their arms and legs (peripheral neuropathy). Infants and children with LCHAD deficiency are also at risk of serious heart problems, such as a weakened heart (cardiomyopathy) and heart failure; breathing difficulties; coma; and sudden death. Problems related to LCHAD deficiency can be triggered when the body is under stress, for example during periods of fasting, illnesses such as viral infections, or weather extremes. This disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.","Curated_Disease_Description_Source__c":"GARD:0006867","GARD_Synonym__c":"deficiency of long-chain 3-hydroxyacyl-coenzyme a dehydrogenase; fatty liver, acute, of pregnancy; hellp syndrome, maternal, of pregnancy; lchad deficiency; lchadd; lchadd - long chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency; long chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency; long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency","Name":"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"FOD (Fatty Oxidation Disorder) Family Support Group","Website__c":"https://fodsupport.org/"},{"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":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"},{"Account_Name__c":"United Mitochondrial Disease Foundation","Website__c":"https://www.umdf.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":"Cardiology","Tag_Category__c":"Specialist"},{"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":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine 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":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"Tag_Name__c":"Cardiomyopathy","Tag_Category__c":"Account","curated_tag_name":"Cardiomyopathy"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:5"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:5"}],"Diagnosis__c":[{"Type__c":"NEWBORN","Category__c":"Core","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/LCHAD"},{"Type__c":"GTR","Curie__c":"MEDGEN:C3711645"},{"Type__c":"GTR","Curie__c":"MEDGEN:CN239369"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006867","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK583531","Source__c":"Gene Review","Xref__c":"NBK583531"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=778253","Source__c":"C3711645","Xref__c":"MEDGEN:778253"},{"URL__c":"https://www.orpha.net/en/disease/detail/5","Source__c":"C3711645; MONDO:0012173; ORPHA:5","Xref__c":"ORPHA:5"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=726021008","Source__c":"C3711645; MONDO:0012173","Xref__c":"726021008"},{"URL__c":"https://www.omim.org/entry/609016","Source__c":"C3711645; MONDO:0012173; ORPHA:5","Xref__c":"OMIM:609016"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C129929","Source__c":"C3711645; MONDO:0012173","Xref__c":"C129929"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3711645","Source__c":"C3711645","Xref__c":"C3711645"},{"URL__c":"https://medlineplus.gov/genetics/condition/long-chain-3-hydroxyacyl-coa-dehydrogenase-deficiency","Source__c":"GARD:0006867","Xref__c":"https://medlineplus.gov/genetics/condition/long-chain-3-hydroxyacyl-coa-dehydrogenase-deficiency"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012173","Source__c":"GARD:0006867","Xref__c":"MONDO:0012173"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0061186","Source__c":"MONDO:0012173","Xref__c":"DOID:0061186"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HADHA","GHR_URL__c":"https://medlineplus.gov/genetics/gene/hadha","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:5","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000572","HPO_Synonym__c":"Loss of vision; Vision loss; Visual loss","HPO_Name__c":"Visual loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:5","HPO_Frequency__c":"Occasional (5-29%)","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:5","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:5","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001639","HPO_Synonym__c":"Cardiomyopathy, hypertrophic; Enlarged and thickened heart muscle; HCM","HPO_Name__c":"Hypertrophic cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:5","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001985","HPO_Synonym__c":"Hypoglycemia, hypoketotic","HPO_Name__c":"Hypoketotic hypoglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:5","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:5","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A form of strabismus with one or both eyes deviated outward.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000577","HPO_Synonym__c":"Outward facing eye ball","HPO_Name__c":"Exotropia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:5","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inability to see well at night or in poor light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000662","HPO_Synonym__c":"Night blindness; Night-blindness; Poor night vision","HPO_Name__c":"Nyctalopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:5","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:5","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000488","HPO_Synonym__c":"Noninflammatory retina disease","HPO_Name__c":"Retinopathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:5","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000613","HPO_Synonym__c":"Extreme sensitivity of the eyes to light; Light hypersensitivity; Photodysphoria","HPO_Name__c":"Photophobia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:5","HPO_Frequency__c":"Frequent (30-79%)","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:5","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002611","HPO_Name__c":"Cholestatic liver disease","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:5","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000545","HPO_Synonym__c":"Close sighted; Near sighted; Near sightedness; Nearsightedness","HPO_Name__c":"Myopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:5","HPO_Frequency__c":"Occasional (5-29%)","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:5","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A localized defect in the posterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030856","HPO_Name__c":"Posterior staphyloma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:5","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal pigmentation of the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007703","HPO_Synonym__c":"Abnormality of retinal pigment epithelium; Abnormality of retinal pigmentation; Abnormality of RPE; Retinal pigmentary anomaly","HPO_Name__c":"Abnormal retinal pigmentation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:5","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000512","HPO_Synonym__c":"Abnormal electroretinography; Abnormal ERG; ERG abnormal","HPO_Name__c":"Abnormal electroretinogram","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:5","HPO_Frequency__c":"Occasional (5-29%)","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:5","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009830","HPO_Synonym__c":"Peripheral nerve damage; Peripheral neuritis","HPO_Name__c":"Peripheral neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:5","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001939","HPO_Synonym__c":"Laboratory abnormality; Metabolism abnormality","HPO_Name__c":"Abnormality of metabolism/homeostasis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:5","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the choroid and retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000532","HPO_Synonym__c":"Chorioretinal abnormality","HPO_Name__c":"Abnormal chorioretinal morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:5","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:5","HPO_Frequency__c":"Occasional (5-29%)","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:5","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"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Endocrine","Inborn Errors of Metabolism"],"Specialist":["Genetics","Cardiology","Neurology","Ophthalmology","Endocrine","Retinal","Neuromuscular medicine","Pediatrics"],"Account":["Retinal","Peripheral Neuropathy","Cardiomyopathy"]},"synonyms":["deficiency of long-chain 3-hydroxyacyl-coenzyme a dehydrogenase"," fatty liver, acute, of pregnancy"," hellp syndrome, maternal, of pregnancy"," lchad deficiency"," lchadd"," lchadd - long chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency"," long chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency"," long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency"],"spanishId":13052,"spanishName":"deficiencia-de-lchad"}