{"Name":"Hereditary sensory and autonomic neuropathy type 1","DiseaseID__c":"GARD:0006635","id":6635,"encodedName":"hereditary-sensory-and-autonomic-neuropathy-type-1","IsDeleted":false,"Disease_Name_Full__c":"Hereditary sensory and autonomic neuropathy type 1","Xref_IDs__c":"397734008; C0020071; C170433; DOID:0070162; MEDGEN:5645; MONDO:0018213; ORPHA:36386","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018213","Disease_Description__c":"A rare slowly progressive neurological disorder characterized by prominent predominantly distal sensory loss, autonomic disturbances in some patients, autosomal dominant inheritance, and juvenile or adulthood disease onset.","GARD_Name__c":"Hereditary sensory and autonomic neuropathy type 1","GARD_Synonym__c":"acrodystrophic neuropathy; autosomal dominant sensory neuropathy; dominant hereditary sensory neuropathy, type i; hereditary sensory and autonomic neuropathy type i; hereditary sensory and autonomic neuropathy, type i; hereditary sensory neuropathy type i; hsan 1; hsan1; hsn type i","Curated_Disease_Description_Source__c":"GARD:0006635","Curated_Disease_Description__c":"Hereditary sensory neuropathy type 1 (HSN1) is a neurological condition characterized by nerve abnormalities in the legs and feet. Many people with this condition have tingling, weakness, and a reduced ability to feel pain and sense hot and cold. Some affected people do not lose sensation, but instead feel shooting pains in their legs and feet. As HSN1 progresses, sensory problems can affect the hands, arms, shoulders, and abdomen. In rare cases, people with this condition develop sensorineural hearing loss. HSN1 is caused by genetic changes in any of several genes, depending on the form of HSN1 (HSN1A is caused by genetic changes in the SPTLC1 gene; HSN1B is linked to a gene located in chromosome 3; HSN1C is caused by genetic changes in the SPTLC2 gene; HSN1D is caused by genetic changes in the ATL1 gene and HSN1E is caused by genetic changes in DNMT1 gene. All forms of HSN1 are inherited in an autosomal dominant manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:36386","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018213","ORPHANET_ID__c":"ORPHA:36386","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Neuropatía sensitiva autonómica hereditaria tipo 1","Spanish_Description_Source__c":"ORPHA:36386","Spanish_Description__c":"La neuropatía sensitiva hereditaria de tipo 1 (HSN1) es una enfermedad neurológica progresiva caracterizada por: prominente pérdida sensitiva principalmente distal, alteraciones autónomas, herencia dominante autosómica y aparición de la enfermedad en edad juvenil o adulta.","Spanish_Disease_Name__c":"neuropatía sensitiva autonómica hereditaria tipo 1","Spanish_GARD_Synonym__c":"hsan1; neuropatía sensitiva autonómica hereditaria tipo i","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":"Hereditary sensory neuropathy type 1 (HSN1) is a neurological condition characterized by nerve abnormalities in the legs and feet. Many people with this condition have tingling, weakness, and a reduced ability to feel pain and sense hot and cold. Some affected people do not lose sensation, but instead feel shooting pains in their legs and feet. As HSN1 progresses, sensory problems can affect the hands, arms, shoulders, and abdomen. In rare cases, people with this condition develop sensorineural hearing loss. HSN1 is caused by genetic changes in any of several genes, depending on the form of HSN1 (HSN1A is caused by genetic changes in the SPTLC1 gene; HSN1B is linked to a gene located in chromosome 3; HSN1C is caused by genetic changes in the SPTLC2 gene; HSN1D is caused by genetic changes in the ATL1 gene and HSN1E is caused by genetic changes in DNMT1 gene. All forms of HSN1 are inherited in an autosomal dominant manner.","Curated_Disease_Description_Source__c":"GARD:0006635","GARD_Synonym__c":"acrodystrophic neuropathy; autosomal dominant sensory neuropathy; dominant hereditary sensory neuropathy, type i; hereditary sensory and autonomic neuropathy type i; hereditary sensory and autonomic neuropathy, type i; hereditary sensory neuropathy type i; hsan 1; hsan1; hsn type i","Name":"Hereditary sensory and autonomic neuropathy type 1","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Hereditary Neuropathy Foundation Inc.","Website__c":"https://www.hnf-cure.org/"},{"Account_Name__c":"The Foundation for Peripheral Neuropathy","Website__c":"https://www.foundationforpn.org"},{"Account_Name__c":"Deater Foundation, Inc.","Website__c":"https://www.deaterfoundation.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":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"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":"All ages","Provided_By__c":"ORPHA:36386"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0020071"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006635","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=397734008","Source__c":"C0020071; MONDO:0018213","Xref__c":"397734008"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070162","Source__c":"MONDO:0018213","Xref__c":"DOID:0070162"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0020071","Source__c":"C0020071","Xref__c":"C0020071"},{"URL__c":"https://www.orpha.net/en/disease/detail/36386","Source__c":"C0020071; MONDO:0018213; ORPHA:36386","Xref__c":"ORPHA:36386"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=5645","Source__c":"C0020071","Xref__c":"MEDGEN:5645"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018213","Source__c":"GARD:0006635","Xref__c":"MONDO:0018213"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C170433","Source__c":"C0020071","Xref__c":"C170433"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=230553002","Source__c":"C0020071","Xref__c":"230553002"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SPTLC1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/sptlc1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SPTLC2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ATL1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/atl1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ATL3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:36386","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200042","HPO_Synonym__c":"Open skin sore","HPO_Name__c":"Skin ulcer","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:36386","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002821","HPO_Synonym__c":"Charcot arthropathy; Charcot joint","HPO_Name__c":"Neuropathic arthropathy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:36386","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduced ability to heal cutaneous wounds.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001058","HPO_Synonym__c":"Poor wound healing","HPO_Name__c":"Poor wound healing","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:36386","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:36386","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002020","HPO_Synonym__c":"Acid reflux; Acid reflux disease; Gastro-esophageal reflux; Gastroesophageal reflux disease; GERD; GORD; Heartburn","HPO_Name__c":"Gastroesophageal reflux","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:36386","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003376","HPO_Synonym__c":"High stepping","HPO_Name__c":"Steppage gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:36386","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007550","HPO_Synonym__c":"Lack of sweating or excessive sweating","HPO_Name__c":"Hypohidrosis or hyperhidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:36386","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduced sense of touch (tactile sensation) on the skin of the distal limbs. This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006937","HPO_Synonym__c":"Decreased distal touch sense; Decreased touch sensation in extremities","HPO_Name__c":"Impaired distal tactile sensation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:36386","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Trophic changes is a term used to describe abnormalities in the area of pain that include primarily wasting away of the skin, tissues, or muscle, thinning of the bones, and changes in how the hair or nails grow, including thickening or thinning of hair or brittle nails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010834","HPO_Synonym__c":"Trophic changes","HPO_Name__c":"Trophic changes related to pain","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:36386","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002756","HPO_Synonym__c":"Spontaneous fracture","HPO_Name__c":"Pathologic fracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:36386","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"This applies to an individual who needs help with dressing or needs to be completely dressed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031060","HPO_Name__c":"Impaired ability to dress oneself","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:36386","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced strength of the musculature of the distal extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002460","HPO_Synonym__c":"Distal limb muscle weakness; Distal limb weakness; Distal muscular weakness; Distal paresis; Muscle weakness, distal; Muscle weakness, distal limbs, due to neuronopathy; Weakness of distal muscles; Weakness of outermost muscles","HPO_Name__c":"Distal muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:36386","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the autonomic nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002270","HPO_Name__c":"Abnormality of the autonomic nervous system","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:36386","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of reduced conduction velocity of motor nerves on electromyography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100287","HPO_Name__c":"EMG: slow motor conduction","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Procedure_EMG"}},{"Provided_By__c":"ORPHA:36386","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012735","HPO_Synonym__c":"Cough; Coughing","HPO_Name__c":"Cough","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:36386","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal reduction in sensation in the distal portions of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002936","HPO_Synonym__c":"Decreased distal sensation; Decreased sensation in extremities; Distal sensation loss; Distal sensory impairment in lower limbs; Distal sensory impairment of the lower extremities; Distal sensory loss; Distal sensory loss, upper and lower limbs; Loss of distal sensation","HPO_Name__c":"Distal sensory impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:36386","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inability to perceive painful stimuli.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007021","HPO_Synonym__c":"Absence of pain sensation","HPO_Name__c":"Pain insensitivity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:36386","HPO_Frequency__c":"Occasional (5-29%)","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:36386","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009027","HPO_Synonym__c":"Foot drop; Foot extensor weakness; Footdrop; Inability to heel walk; Inability to walk on heels","HPO_Name__c":"Foot dorsiflexor weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:36386","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007078","HPO_Name__c":"Decreased amplitude of sensory action potentials","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_NCV"}},{"Provided_By__c":"ORPHA:36386","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Chronic pain in the limbs with no clear focal etiology.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009763","HPO_Synonym__c":"Limb pain","HPO_Name__c":"Limb pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:36386","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002754","HPO_Synonym__c":"Bone infection","HPO_Name__c":"Osteomyelitis","Feature_System__c":"Musculoskeletal System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:36386","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hyperkeratosis is a histopathological term defining a thickened stratum corneum and may be present in many different skin conditions, with many possible overlaps. Hyperkeratosis refers to the increased thickness of the stratum corneum, the outer layer of the skin. Hyperkeratosis is subclassified as orthokeratotic or parakeratotic. Orthokeratotic hyperkeratosis refers to the thickening of the keratin layer with preserved keratinocyte maturation, while parakeratotic hyperkeratosis shows retained nuclei as a sign of delayed maturation of keratinocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000962","HPO_Synonym__c":"Epidermal hyperkeratosis","HPO_Name__c":"Hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:36386","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Muscular atrophy affecting muscles in the distal portions of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003693","HPO_Synonym__c":"Amyotrophy of distal limb muscles; Distal amyotrophy, especially of the hands and feet; Distal limb muscle atrophy; Distal muscle atrophy; Distal muscle atrophy, upper and lower limbs; Distal muscle degeneration; Distal muscle wasting; Distal muscular atrophy; Muscle atrophy, distal","HPO_Name__c":"Distal amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:36386","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduced ability to discriminate between different temperatures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010829","HPO_Synonym__c":"Abnormality of temperature sensation; Impaired temperature sensation; Impaired thermal sensitivity; Loss of temperature sensation","HPO_Name__c":"Impaired temperature sensation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:36386","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002141","HPO_Synonym__c":"Abnormality of balance; Abnormality of equilibrium; Imbalanced walk","HPO_Name__c":"Gait imbalance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:36386","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001026","HPO_Synonym__c":"Penetrating foot ulcers","HPO_Name__c":"Penetrating foot ulcers","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:36386","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007002","HPO_Name__c":"Motor axonal neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:36386","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["acrodystrophic neuropathy"," autosomal dominant sensory neuropathy"," dominant hereditary sensory neuropathy, type i"," hereditary sensory and autonomic neuropathy type i"," hereditary sensory and autonomic neuropathy, type i"," hereditary sensory neuropathy type i"," hsan 1"," hsan1"," hsn type i"]}