{"Name":"Pellagra","DiseaseID__c":"GARD:0010014","id":10014,"encodedName":"pellagra","IsDeleted":false,"Disease_Name_Full__c":"Pellagra","Xref_IDs__c":"418186002; 418279001; C0030783; D010383; DOID:8457; MEDGEN:45364; MONDO:0019975; ORPHA:97352","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"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":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0019975","Disease_Description__c":"Pellagra is a nutritional disorder caused by a deficiency in niacin (vitamin B3) or its precursor (tryptophan) that is mainly observed in Asia and Africa where it is generally due to poor nutrition. It is characterized by dermatitis (symmetrical photodistributed erythema that may be accompanied by vesicles and bullae, and that develops into hyperkeratotic and hyperpigmented skin), gastrointestinal symptoms (diarrhea), and neuropsychiatric disorders (dementia). It can be life-threatening without a correct management.","GARD_Name__c":"Pellagra","GARD_Synonym__c":"niacin deficiency; niacin-tryptophan deficiency","Curated_Disease_Description_Source__c":"MONDO:0019975","Curated_Disease_Description__c":"Pellagra is a nutritional disorder caused by a deficiency in niacin (vitamin B3) or its precursor (tryptophan) that is mainly observed in Asia and Africa where it is generally due to poor nutrition. It is characterized by dermatitis (symmetrical photodistributed erythema that may be accompanied by vesicles and bullae, and that develops into hyperkeratotic and hyperpigmented skin), gastrointestinal symptoms (diarrhea), and neuropsychiatric disorders (dementia). It can be life-threatening without a correct management.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:97352","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019975","ORPHANET_ID__c":"ORPHA:97352","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Pelagra","Spanish_Description_Source__c":"ORPHA:97352","Spanish_Description__c":"La pelagra es un trastorno nutricional causado por un déficit de niacina (vitamina B3) o su precursor (triptófano) que se observa sobre todo en Asia y África, donde generalmente se debe a una alimentación pobre. Se caracteriza por dermatitis (eritema fotodistribuido simétricamente que puede ir acompañado por vesículas y bullas, y que evoluciona a una piel hiperqueratótica e hiperpigmentada), síntomas gastrointestinales (diarrea), y trastornos neuropsiquiátricos (demencia). Puede llegar a ser mortal sin un manejo correcto.","Spanish_Disease_Name__c":"pelagra","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":"Pellagra is a nutritional disorder caused by a deficiency in niacin (vitamin B3) or its precursor (tryptophan) that is mainly observed in Asia and Africa where it is generally due to poor nutrition. It is characterized by dermatitis (symmetrical photodistributed erythema that may be accompanied by vesicles and bullae, and that develops into hyperkeratotic and hyperpigmented skin), gastrointestinal symptoms (diarrhea), and neuropsychiatric disorders (dementia). It can be life-threatening without a correct management.","Curated_Disease_Description_Source__c":"MONDO:0019975","GARD_Synonym__c":"niacin deficiency; niacin-tryptophan deficiency","Name":"Pellagra","estimateUsa":""}],"GARD_Disease_Tag__c":[{"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"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=45364","Source__c":"C0030783","Xref__c":"MEDGEN:45364"},{"URL__c":"https://www.orpha.net/en/disease/detail/97352","Source__c":"C0030783; MONDO:0019975; ORPHA:97352","Xref__c":"ORPHA:97352"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C010383","Source__c":"C0030783; MONDO:0019975","Xref__c":"D010383"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0030783","Source__c":"C0030783","Xref__c":"C0030783"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A8457","Source__c":"MONDO:0019975","Xref__c":"DOID:8457"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=418279001","Source__c":"MONDO:0019975","Xref__c":"418279001"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=418186002","Source__c":"C0030783","Xref__c":"418186002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019975","Source__c":"GARD:0010014","Xref__c":"MONDO:0019975"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:97352","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impaired ability to absorb one or more nutrients from the intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002024","HPO_Synonym__c":"Intestinal malabsorption; Malabsorption","HPO_Name__c":"Malabsorption","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97352","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100543","HPO_Synonym__c":"Abnormality of cognition; Cognitive abnormality; Cognitive defects; Cognitive deficits; Cognitive impairment; Intellectual impairment","HPO_Name__c":"Cognitive impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97352","HPO_Frequency__c":"Occasional (5-29%)","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:97352","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010280","HPO_Synonym__c":"Inflammation of the mouth","HPO_Name__c":"Stomatitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97352","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003401","HPO_Synonym__c":"Paresthesias; Pins and needles feeling; Tingling","HPO_Name__c":"Paresthesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97352","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012531","HPO_Synonym__c":"Pain","HPO_Name__c":"Pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97352","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000739","HPO_Synonym__c":"Anxiety; Anxiousness; Excessive, persistent worry and fear","HPO_Name__c":"Anxiety","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97352","HPO_Frequency__c":"Frequent (30-79%)","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:97352","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A red eruption of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000988","HPO_Synonym__c":"Skin rash","HPO_Name__c":"Skin rash","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97352","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97352","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased length and width of the tongue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000158","HPO_Synonym__c":"Abnormally large tongue; Hyperplasia of the tongue; Hypertrophy of the tongue; Increased size of tongue; Large tongue; Tongue hypertrophy","HPO_Name__c":"Macroglossia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97352","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduced desire to eat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004396","HPO_Synonym__c":"Decreased appetite; Loss of appetite; Poor appetite","HPO_Name__c":"Poor appetite","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97352","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A deficiency in the intake of energy and nutrients.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004395","HPO_Synonym__c":"Malnutrition","HPO_Name__c":"Malnutrition","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97352","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002013","HPO_Synonym__c":"Emesis; Throwing up; Vomiting","HPO_Name__c":"Vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97352","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025300","HPO_Synonym__c":"Butterfly rash; Cheekbone rash","HPO_Name__c":"Malar rash","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97352","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the optic nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100653","HPO_Name__c":"Optic neuritis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97352","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Livedo reticularis is characterized by the presence of a bluish purple, mottled or netlike pattern in unbroken circles on the skin. Exposure to cold environments usually intensifies the vascular pattern. Presumably, the condition results from slow or stagnant blood flow, vessel-wall pathology, and decreased oxygen tension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033505","HPO_Name__c":"Livedo reticularis","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97352","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100497","HPO_Synonym__c":"Vitamin B3 deficiency","HPO_Name__c":"Vitamin B3 deficiency","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:97352","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000992","HPO_Synonym__c":"Photosensitive skin; Photosensitive skin rashes; Photosensitivity; Sensitivity to sunlight; Skin photosensitivity; Sun sensitivity","HPO_Name__c":"Cutaneous photosensitivity","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97352","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A sensation of unease in the stomach together with an urge to vomit.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002018","HPO_Synonym__c":"Nausea","HPO_Name__c":"Nausea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97352","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Difficulty in swallowing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002015","HPO_Synonym__c":"Difficulty swallowing; Poor swallowing; Swallowing difficulties; Swallowing difficulty","HPO_Name__c":"Dysphagia","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97352","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000716","HPO_Synonym__c":"Depression; Depressive episode; Depressivity","HPO_Name__c":"Depression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97352","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008066","HPO_Synonym__c":"Abnormal blistering of the skin; Blister; Blistering, generalized; Blisters; Skin bullae","HPO_Name__c":"Abnormal blistering of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97352","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The inability to focus or concentrate on a specific task, activity, or object. The subject may find themselves unable to grasp or understand written text and re-reads frequently without understanding. Familiar tasks or activities are severely compromised due to the lack of ability to concentrate. Thinking through multi-step problems is typically very difficult or impossible, leading to avoidance of such activities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031987","HPO_Synonym__c":"Concentration problems; Labored thinking; Lack of concentration; Poor concentration","HPO_Name__c":"Diminished ability to concentrate","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97352","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Perceptions in a conscious and awake state that, in the absence of external stimuli, have qualities of real perception. These perceptions are vivid, substantial, and located in external objective space.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000738","HPO_Synonym__c":"Hallucination; Hallucinations; Sensory hallucination","HPO_Name__c":"Hallucinations","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97352","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000712","HPO_Name__c":"Emotional lability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97352","HPO_Frequency__c":"Occasional (5-29%)","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:97352","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007141","HPO_Synonym__c":"Mixed polyneuropathy; Nerve damage causing decreased feeling and movement; Sensorimotor peripheral neuropathy","HPO_Name__c":"Sensorimotor neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97352","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of inflammation of the gastric mucous membrane.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005263","HPO_Synonym__c":"Stomach inflammation","HPO_Name__c":"Gastritis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97352","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the tongue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000206","HPO_Synonym__c":"Inflammation of the tongue; Lingual inflammation; Smooth swollen tongue","HPO_Name__c":"Glossitis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97352","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A condition in which production of hydrochloric acid in the stomach is absent.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032448","HPO_Name__c":"Achlorhydria","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97352","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A circumscribed, fluid-containing, epidermal elevation less than 10mm in diameter at the widest point that (i) Contain serous exudates or serum mixed with blood or pus; (ii) Are discrete, grouped, irregularly distributed, or linear as in Rhus dermatitis; (iii) Are short-lived. Vesicles may break spontaneously or evolve into bullae by enlarging or coalescing with other vesicles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200037","HPO_Name__c":"Skin vesicle","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97352","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the lip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100825","HPO_Synonym__c":"Inflammation of the lips","HPO_Name__c":"Cheilitis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97352","HPO_Frequency__c":"Frequent (30-79%)","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:97352","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004326","HPO_Synonym__c":"Wasting syndrome","HPO_Name__c":"Cachexia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97352","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal pattern in the quality, quantity, or characteristics of sleep.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002360","HPO_Synonym__c":"Difficulty sleeping; Sleep abnormality; Sleep disturbances; Sleep dysfunction; Sleep-wake disturbance; Trouble sleeping","HPO_Name__c":"Sleep disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97352","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:97352","HPO_Frequency__c":"Frequent (30-79%)","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:97352","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007400","HPO_Name__c":"Irregular hyperpigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97352","HPO_Frequency__c":"Frequent (30-79%)","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:97352","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Infrequent or difficult evacuation of feces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002019","HPO_Synonym__c":"Constipation; Costiveness; Dyschezia","HPO_Name__c":"Constipation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97352","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002315","HPO_Synonym__c":"Headache; Headaches","HPO_Name__c":"Headache","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97352","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002014","HPO_Synonym__c":"Diarrhea; Watery stool","HPO_Name__c":"Diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Dermatology"],"Disease Category":["Dermatology"],"Specialist":["Dermatology"]},"synonyms":["niacin deficiency"," niacin-tryptophan deficiency"]}