{"Name":"Mitochondrial myopathy with diabetes","DiseaseID__c":"GARD:0003881","id":3881,"encodedName":"mitochondrial-myopathy-with-diabetes","IsDeleted":false,"Disease_Name_Full__c":"Mitochondrial myopathy with diabetes","Xref_IDs__c":"C1839028; C564026; MEDGEN:333236; MONDO:0010773; OMIM:500002; ORPHA:2596","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"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":1,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":5,"Description_Source__c":"ORPHA:2596","Disease_Description__c":"A rare, genetic, mitochondrial DNA-related mitochondrial myopathy disorder characterized by slowly progressive muscular weakness (proximal greater than distal), predominantly involving the facial muscles and scapular girdle, associated with insulin-dependent diabetes mellitus. Neurological involvement and congenital myopathy may be variably observed.","GARD_Name__c":"Mitochondrial myopathy with diabetes","GARD_Synonym__c":"mitochondrial myopathy, lipid type; myopathy and diabetes mellitus","Curated_Disease_Description_Source__c":"ORPHA:2596","Curated_Disease_Description__c":"A rare, genetic, mitochondrial DNA-related mitochondrial myopathy disorder characterized by slowly progressive muscular weakness (proximal greater than distal), predominantly involving the facial muscles and scapular girdle, associated with insulin-dependent diabetes mellitus. Neurological involvement and congenital myopathy may be variably observed.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:2596","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010773","ORPHANET_ID__c":"ORPHA:2596","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Miopatía con diabetes mellitus","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"miopatía con diabetes mellitus","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"A rare, genetic, mitochondrial DNA-related mitochondrial myopathy disorder characterized by slowly progressive muscular weakness (proximal greater than distal), predominantly involving the facial muscles and scapular girdle, associated with insulin-dependent diabetes mellitus. Neurological involvement and congenital myopathy may be variably observed.","Curated_Disease_Description_Source__c":"ORPHA:2596","GARD_Synonym__c":"mitochondrial myopathy, lipid type; myopathy and diabetes mellitus","Name":"Mitochondrial myopathy with diabetes","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"MitoAction","Website__c":"https://www.mitoaction.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":"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":"Mitochondrial","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Mitochondrial diseases are a group of genetic diseases that affect the ability of the body's cells to make energy.","curated_tag_name":"Mitochondrial diseases"},{"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":"Adolescent","Provided_By__c":"ORPHA:2596"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2596"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2596"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:2596"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2596"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1839028"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1839028","Source__c":"C1839028","Xref__c":"C1839028"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564026","Source__c":"MONDO:0010773","Xref__c":"C564026"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=333236","Source__c":"C1839028","Xref__c":"MEDGEN:333236"},{"URL__c":"https://www.omim.org/entry/500002","Source__c":"C1839028; MONDO:0010773; ORPHA:2596","Xref__c":"OMIM:500002"},{"URL__c":"https://www.orpha.net/en/disease/detail/2596","Source__c":"C1839028; MONDO:0010773","Xref__c":"ORPHA:2596"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010773","Source__c":"GARD:0003881","Xref__c":"MONDO:0010773"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MT-TE","GHR_URL__c":"https://medlineplus.gov/genetics/gene/mt-te","Gene_Type__c":"non-coding RNA","Causal_Gene__c":true}],"Inheritance__c":["Mitochondrial inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2596","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A contracture of the Achilles tendon.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001771","HPO_Synonym__c":"Achilles tendon contractures; Contractures of the Achilles tendon; Shortening of the achilles tendon; Tight achilles tendon","HPO_Name__c":"Achilles tendon contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2596","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012391","HPO_Name__c":"Hyporeflexia of upper limbs","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2596","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030051","HPO_Synonym__c":"Tiptoe gait; Toe walking; Walking on tiptoes","HPO_Name__c":"Tip-toe gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2596","HPO_Frequency__c":"Occasional (5-29%)","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:2596","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Amyotrophy (muscular atrophy) affecting the proximal musculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007126","HPO_Synonym__c":"Muscle atrophy, proximal; Proximal muscle atrophy; Proximal muscle wasting; Symmetric proximal muscular atrophy; Symmetrical, proximal limb muscle atrophy; Wasting of muscles near the body","HPO_Name__c":"Proximal amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2596","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Muscular atrophy of distal leg muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008944","HPO_Synonym__c":"Lower leg amyotrophy; Lower limb degeneration; Muscle atrophy, lower limb, distal","HPO_Name__c":"Distal lower limb amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2596","HPO_Frequency__c":"Uncommon (<1-4%)","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:2596","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100651","HPO_Synonym__c":"Diabetes mellitus Type I; Juvenile diabetes mellitus; Type 1 diabetes; Type I diabetes","HPO_Name__c":"Type I diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2596","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001260","HPO_Synonym__c":"Difficulty articulating speech; Dysarthric speech","HPO_Name__c":"Dysarthria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2596","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003749","HPO_Synonym__c":"Hip girdle muscle weakness; Hip girdle weakness; Hip-girdle muscle weakness; Pelvic girdle weakness","HPO_Name__c":"Pelvic girdle muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2596","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality characterized by disruption of the normal functioning of peripheral axons.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003477","HPO_Synonym__c":"Axonal neuropathy; Axonal peripheral neuropathy","HPO_Name__c":"Peripheral axonal neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2596","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000726","HPO_Synonym__c":"Dementia; Dementia, progressive; Progressive dementia","HPO_Name__c":"Dementia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2596","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced ability to run.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009046","HPO_Synonym__c":"Difficulty running","HPO_Name__c":"Difficulty running","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2596","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030319","HPO_Synonym__c":"Decreased facial muscle strength; Decreased strength of facial muscles; Face weakness; Facial muscle weakness; Facial weakness; Myasthenia of facial muscles; Reduced facial muscle strength; Weakness of face; Weakness of facial musculature","HPO_Name__c":"Weakness of facial musculature","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2596","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Wasting of the sternocleidomastoid muscle, the muscle in the anterior part of the neck that acts to flex and rotate the head.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012036","HPO_Name__c":"Sternocleidomastoid amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2596","HPO_Frequency__c":"Uncommon (<1-4%)","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:2596","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001319","HPO_Synonym__c":"Hypotonia, in neonatal onset; Hypotonia, neonatal; Low muscle tone, in neonatal onset","HPO_Name__c":"Neonatal hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2596","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Lack of strength of the proximal muscles that becomes progressively more severe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009073","HPO_Synonym__c":"Muscle weakness, progressive, proximal","HPO_Name__c":"Progressive proximal muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2596","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased intensity of the a reflex in the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002395","HPO_Synonym__c":"Brisk lower extremity reflexes; Hyperreflexia in lower limbs; Hyperreflexia in the lower limbs; Increased deep tendon reflexes in the lower limbs; Leg hyperreflexia; Overactive lower leg reflex","HPO_Name__c":"Lower limb hyperreflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2596","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced strength of the orbicularis oculi, the circumorbital muscle in the face that closes the eyelid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012507","HPO_Synonym__c":"Weakness of orbicularis oculi muscles","HPO_Name__c":"Weakness of orbicularis oculi muscle","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2596","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002098","HPO_Synonym__c":"Breathing difficulties; Labored breathing; Respiratory difficulties","HPO_Name__c":"Respiratory distress","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2596","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003487","HPO_Synonym__c":"Extensor plantar reflexes; Extensor plantar response; Extensor plantar responses; Positive Babinski sign","HPO_Name__c":"Babinski sign","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2596","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Moderate intellectual disability (ID) is defined as a type of ID characterized by moderately sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 35-49.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002342","HPO_Synonym__c":"Intellectual disability, moderate; IQ between 34 and 49; Mental retardation, moderate; Moderate mental deficiency; Moderate mental retardation","HPO_Name__c":"Moderate intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2596","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pain in muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003326","HPO_Synonym__c":"Muscle ache; Muscle pain","HPO_Name__c":"Myalgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2596","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced ability to climb stairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003551","HPO_Synonym__c":"Difficulty walking up stairs","HPO_Name__c":"Difficulty climbing stairs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2596","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003756","HPO_Name__c":"Skeletal myopathy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2596","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003546","HPO_Synonym__c":"Decreased ability to exercise; Inability to exercise; Low exercise endurance; Poor exercise tolerance","HPO_Name__c":"Exercise intolerance","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2596","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003547","HPO_Synonym__c":"Muscle weakness, shoulder-girdle; Shoulder girdle weakness; Shoulder weakness; Weak shoulder muscles","HPO_Name__c":"Shoulder girdle muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2596","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2596","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Incapability to ambulate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002540","HPO_Synonym__c":"Inability to walk; Non-ambulatory","HPO_Name__c":"Inability to walk","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2596","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A mental disorder characterized by a disintegration of thought processes and emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking. It is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 1%. This term is not a helpful parent term to describe abnormal experiences.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100753","HPO_Name__c":"Schizophrenia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2596","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002359","HPO_Synonym__c":"Frequent falls","HPO_Name__c":"Frequent falls","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Disease Category":["Genetics","Neurology","Endocrine","Inborn Errors of Metabolism","Mitochondrial"],"Specialist":["Genetics","Neurology","Endocrine","Neuromuscular medicine","Pediatrics"],"Account":["Mitochondrial"]},"synonyms":["mitochondrial myopathy, lipid type"," myopathy and diabetes mellitus"]}