{"Name":"Sjögren-Larsson syndrome","DiseaseID__c":"GARD:0007654","id":7654,"encodedName":"sjgren-larsson-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Sjögren-Larsson syndrome","Xref_IDs__c":"111303009; 423022297; C0037231; C85070; D016111; DOID:14501; MEDGEN:11443; MONDO:0010031; OMIM:270200; ORPHA:816","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":7,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010031","Disease_Description__c":"A rare neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity.","GARD_Name__c":"Sjögren-Larsson syndrome","GARD_Synonym__c":"faldh deficiency; fao - fatty alcohol-nicotinamide adenine dinucleotide oxidase-reductase deficiency; fatty acid alcohol oxidoreductase deficiency; fatty alcohol-nicotinamide adenine dinucleotide oxidoreductase deficiency; fatty alcohol:nad+ oxidoreductase deficiency; fatty aldehyde dehydrogenase deficiency; ichthyosis, spastic neurologic disorder, and oligophrenia; senior-løken syndrome; sjogren larsson syndrome; sjogren-larsson syndrome; sjogren-larsson's syndrome; sls","Curated_Disease_Description_Source__c":"GARD:0007654","Curated_Disease_Description__c":"Sjögren-Larsson syndrome is a condition that affects the skin and eyes as well as the brain and spinal cord (central nervous system).  Infants with Sjögren-Larsson syndrome tend to be born prematurely. At birth, the skin may be thicker than normal (hyperkeratosis) and red (erythema), but it typically becomes dry and scaly (ichthyosis). Mild to severe itchiness (pruritus) is also common. The skin abnormalities generally affect the neck, torso, arms, and legs. The face is usually not affected. Tiny crystals in the light-sensitive tissue at the back of the eye (retina) can be seen during an eye exam in most affected individuals who are older than 3 to 4 years of age. This feature is unique to people with Sjögren-Larsson syndrome and can be used to diagnose the condition. These retinal crystals are often called “glistening white dots.” People with Sjögren-Larsson syndrome may also have nearsightedness (myopia) or an increased sensitivity to light (photophobia). People with Sjögren-Larsson syndrome may have neurological signs and symptoms. Affected individuals often have leukoencephalopathy, which is a change in a type of brain tissue called white matter. White matter consists of nerve fibers that are covered by a substance (myelin) that insulates and protects the nerves. Leukoencephalopathy is thought to contribute to many of the neurological signs and symptoms seen in people with Sjögren-Larsson syndrome. Most people with Sjögren-Larsson syndrome have intellectual disabilities, which can vary from mild to severe. Speech difficulties (dysarthria) are common, and speech development is often delayed. Affected individuals typically have more trouble speaking than understanding language. Approximately 35 to 40 percent of people with Sjögren-Larsson syndrome have seizures. Children with Sjögren-Larsson syndrome typically experience abnormal muscle stiffness (spasticity) in their legs and, less commonly, in their arms. The spasticity may cause a delay in the development of motor skills such as sitting, crawling, and walking. Joint deformities (contractures) are also common. Approximately 50 percent of people with Sjögren-Larsson syndrome will require wheelchair assistance.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:816","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010031","ORPHANET_ID__c":"ORPHA:816","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de sjögren-larsson","Spanish_Description_Source__c":"ORPHA:816","Spanish_Description__c":"Es un trastorno neurocutáneo poco frecuente causado por un error innato del metabolismo lipídico y caracterizado por ictiosis congénita, discapacidad intelectual y espasticidad.","Spanish_Disease_Name__c":"síndrome de sjögren-larsson","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:89826","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":"Sjögren-Larsson syndrome is a condition that affects the skin and eyes as well as the brain and spinal cord (central nervous system).  Infants with Sjögren-Larsson syndrome tend to be born prematurely. At birth, the skin may be thicker than normal (hyperkeratosis) and red (erythema), but it typically becomes dry and scaly (ichthyosis). Mild to severe itchiness (pruritus) is also common. The skin abnormalities generally affect the neck, torso, arms, and legs. The face is usually not affected. Tiny crystals in the light-sensitive tissue at the back of the eye (retina) can be seen during an eye exam in most affected individuals who are older than 3 to 4 years of age. This feature is unique to people with Sjögren-Larsson syndrome and can be used to diagnose the condition. These retinal crystals are often called “glistening white dots.” People with Sjögren-Larsson syndrome may also have nearsightedness (myopia) or an increased sensitivity to light (photophobia). People with Sjögren-Larsson syndrome may have neurological signs and symptoms. Affected individuals often have leukoencephalopathy, which is a change in a type of brain tissue called white matter. White matter consists of nerve fibers that are covered by a substance (myelin) that insulates and protects the nerves. Leukoencephalopathy is thought to contribute to many of the neurological signs and symptoms seen in people with Sjögren-Larsson syndrome. Most people with Sjögren-Larsson syndrome have intellectual disabilities, which can vary from mild to severe. Speech difficulties (dysarthria) are common, and speech development is often delayed. Affected individuals typically have more trouble speaking than understanding language. Approximately 35 to 40 percent of people with Sjögren-Larsson syndrome have seizures. Children with Sjögren-Larsson syndrome typically experience abnormal muscle stiffness (spasticity) in their legs and, less commonly, in their arms. The spasticity may cause a delay in the development of motor skills such as sitting, crawling, and walking. Joint deformities (contractures) are also common. Approximately 50 percent of people with Sjögren-Larsson syndrome will require wheelchair assistance.","Curated_Disease_Description_Source__c":"GARD:0007654","GARD_Synonym__c":"faldh deficiency; fao - fatty alcohol-nicotinamide adenine dinucleotide oxidase-reductase deficiency; fatty acid alcohol oxidoreductase deficiency; fatty alcohol-nicotinamide adenine dinucleotide oxidoreductase deficiency; fatty alcohol:nad+ oxidoreductase deficiency; fatty aldehyde dehydrogenase deficiency; ichthyosis, spastic neurologic disorder, and oligophrenia; senior-løken syndrome; sjogren larsson syndrome; sjogren-larsson syndrome; sjogren-larsson's syndrome; sls","Name":"Sjögren-Larsson syndrome","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"United Leukodystrophy Foundation","Website__c":"https://ulf.org/"},{"Account_Name__c":"Foundation for Ichthyosis and Related Skin Types","Website__c":"https://www.firstskinfoundation.org/"},{"Account_Name__c":"Alex The Leukodystrophy Charity","Website__c":"https://www.alextlc.org"},{"Account_Name__c":"Ichthyosis Support Group","Website__c":"https://www.ichthyosis.org.uk/"}],"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":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin 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":"Leukodystrophy","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Leukodystrophies are a group of genetic neurological diseases that affect the white matter of the brain and spinal cord.","curated_tag_name":"Leukodystrophies"},{"Tag_Name__c":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Ichthyosis","Tag_Category__c":"Account","curated_tag_name":"Ichthyosis"},{"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":"Infancy","Provided_By__c":"ORPHA:816"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:816"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0037231"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0007654","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=11443","Source__c":"C0037231","Xref__c":"MEDGEN:11443"},{"URL__c":"https://www.omim.org/entry/270200","Source__c":"C0037231; MONDO:0010031; ORPHA:816","Xref__c":"OMIM:270200"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C016111","Source__c":"C0037231; MONDO:0010031","Xref__c":"D016111"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A14501","Source__c":"MONDO:0010031","Xref__c":"DOID:14501"},{"URL__c":"https://www.orpha.net/en/disease/detail/816","Source__c":"C0037231; MONDO:0010031; ORPHA:816","Xref__c":"ORPHA:816"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=111303009","Source__c":"C0037231; MONDO:0010031","Xref__c":"111303009"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0037231","Source__c":"C0037231","Xref__c":"C0037231"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C85070","Source__c":"C0037231; MONDO:0010031","Xref__c":"C85070"},{"URL__c":"https://medlineplus.gov/genetics/condition/sjogren-larsson-syndrome","Source__c":"GARD:0007654","Xref__c":"https://medlineplus.gov/genetics/condition/sjogren-larsson-syndrome"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010031","Source__c":"GARD:0007654","Xref__c":"MONDO:0010031"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022297","Xref__c":"423022297"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ALDH3A2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/aldh3a2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:816","HPO_Frequency__c":"Very frequent (80-99%)","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:816","HPO_Frequency__c":"Frequent (30-79%)","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:816","HPO_Frequency__c":"Frequent (30-79%)","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:816","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the dental enamel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000682","HPO_Synonym__c":"Abnormal tooth enamel; Abnormality of dental enamel; Enamel abnormalities; Enamel abnormality","HPO_Name__c":"Abnormal dental enamel morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:816","HPO_Frequency__c":"Occasional (5-29%)","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:816","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Exaggerated anterior convexity of the thoracic vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002808","HPO_Synonym__c":"Gibbus deformity; Hunched back; Hyperkyphosis; Round back","HPO_Name__c":"Kyphosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:816","HPO_Frequency__c":"Frequent (30-79%)","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:816","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:816","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the eye, parts of the eye or the periorbital region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100533","HPO_Synonym__c":"Inflammatory abnormality of the eye; Ocular inflammation","HPO_Name__c":"Inflammatory abnormality of the eye","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:816","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A general term describing features characterized by abnormal development of bones and connective tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002652","HPO_Name__c":"Skeletal dysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:816","HPO_Frequency__c":"Very frequent (80-99%)","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:816","HPO_Frequency__c":"Frequent (30-79%)","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:816","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000608","HPO_Name__c":"Macular degeneration","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:816","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001257","HPO_Synonym__c":"Involuntary muscle stiffness, contraction, or spasm; Muscle spasticity; Muscular spasticity","HPO_Name__c":"Spasticity","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:816","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007440","HPO_Name__c":"Generalized hyperpigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:816","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality in the sound (volume) or cadence (rate) of speech.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002167","HPO_Synonym__c":"Abnormal speech; Abnormal vocalization; Abnormality of speech or vocalization","HPO_Name__c":"Abnormal speech pattern","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:816","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:816","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Skin characterized by the lack of natural or normal moisture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000958","HPO_Synonym__c":"Dry skin; Xerosis","HPO_Name__c":"Dry skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:816","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001264","HPO_Synonym__c":"Spastic diparesis; Spastic diplegic","HPO_Name__c":"Spastic diplegia","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:816","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:816","HPO_Frequency__c":"Frequent (30-79%)","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:816","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010783","HPO_Synonym__c":"Redness of skin or mucous membrane","HPO_Name__c":"Erythema","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:816","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008064","HPO_Synonym__c":"Ichthyosiform abnormality of the skin; Ichthyotic skin","HPO_Name__c":"Ichthyosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:816","HPO_Frequency__c":"Very frequent (80-99%)","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:816","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:816","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001387","HPO_Synonym__c":"Joint stiffness; Stiff joint; Stiff joints","HPO_Name__c":"Joint stiffness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:816","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An erosion or abrasion of the cornea's outermost layer of epithelial cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200020","HPO_Synonym__c":"Damage to outer layer of the cornea of the eye","HPO_Name__c":"Corneal erosion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:816","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001025","HPO_Synonym__c":"Hives","HPO_Name__c":"Urticaria","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Leukodystrophy"],"Disease Category":["Genetics","Neurology","Dermatology","Inborn Errors of Metabolism","Leukodystrophy"],"Specialist":["Genetics","Neurology","Ophthalmology","Dermatology","Retinal","Neurodevelopmental disabilities","Pediatrics"],"Account":["Dermatology","Leukodystrophy","Retinal","Ichthyosis"]},"synonyms":["faldh deficiency"," fao - fatty alcohol-nicotinamide adenine dinucleotide oxidase-reductase deficiency"," fatty acid alcohol oxidoreductase deficiency"," fatty alcohol-nicotinamide adenine dinucleotide oxidoreductase deficiency"," fatty alcohol:nad+ oxidoreductase deficiency"," fatty aldehyde dehydrogenase deficiency"," ichthyosis, spastic neurologic disorder, and oligophrenia"," senior-løken syndrome"," sjogren larsson syndrome"," sjogren-larsson syndrome"," sjogren-larsson's syndrome"," sls"]}