{"Name":"Hereditary coproporphyria","DiseaseID__c":"GARD:0006619","id":6619,"encodedName":"hereditary-coproporphyria","IsDeleted":false,"Disease_Name_Full__c":"Hereditary coproporphyria","Xref_IDs__c":"7425008; C0162531; C84759; D046349; DOID:13269; MEDGEN:57931; MONDO:0007369; NBK114807; OMIM:121300; ORPHA:79273","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":6,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":0,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007369","Disease_Description__c":"A rare acute hepatic porphyria characterized by neurovisceral attacks and, more rarely, skin lesions.","GARD_Name__c":"Hereditary coproporphyria","GARD_Synonym__c":"berger-goldberg syndrome; coproporphyrinogen oxidase deficiency; cpo - coproporphyrinogen oxidase deficiency; cpo deficiency; cpox deficiency; cpro deficiency; cpx deficiency; hcp; hcp - hereditary coproporphyria; hereditary coproporphyria porphyria; porphyria hepatica coproporphyria; porphyria hepatica ii","Curated_Disease_Description_Source__c":"GARD:0006619","Curated_Disease_Description__c":"Hereditary coproporphyria (HCP) is a rare inherited form of liver (hepatic) porphyria, characterized by neurological symptoms in the form of episodes (acute attacks) of stomach pain, nausea, vomiting, weakness, numbness, and pain in the hands and feet (neuropathy). The porphyrias are a group of blood conditions caused by a lack of an enzyme in the body that makes heme, an important molecule that carries oxygen throughout the body and is vital for all of the body's organs. Symptoms present during the attacks may include body pain, nausea and vomiting, increased heart rate (tachycardia), and high blood pressure. Less common symptoms include seizures, skin lesions, and paralysis of the arms and legs, body trunk, and respiratory muscles. Most individuals with HCP do not have any signs or symptoms between attacks. HCP is caused by genetic changes in the CPOX gene and is inherited in an autosomal dominant manner. Diagnosis is based on the symptoms and specific blood, urine and stool testing.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:79273","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007369","ORPHANET_ID__c":"ORPHA:79273","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Coproporfiria hereditaria","Spanish_Description_Source__c":"ORPHA:79273","Spanish_Description__c":"La coproporfiria hereditaria es una forma de porfiria hepática aguda caracterizada por la aparición de crisis neuroviscerales y, menos frecuentemente, por la presencia de lesiones cutáneas.","Spanish_Disease_Name__c":"coproporfiria hereditaria","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:68367","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Hereditary coproporphyria (HCP) is a rare inherited form of liver (hepatic) porphyria, characterized by neurological symptoms in the form of episodes (acute attacks) of stomach pain, nausea, vomiting, weakness, numbness, and pain in the hands and feet (neuropathy). The porphyrias are a group of blood conditions caused by a lack of an enzyme in the body that makes heme, an important molecule that carries oxygen throughout the body and is vital for all of the body's organs. Symptoms present during the attacks may include body pain, nausea and vomiting, increased heart rate (tachycardia), and high blood pressure. Less common symptoms include seizures, skin lesions, and paralysis of the arms and legs, body trunk, and respiratory muscles. Most individuals with HCP do not have any signs or symptoms between attacks. HCP is caused by genetic changes in the CPOX gene and is inherited in an autosomal dominant manner. Diagnosis is based on the symptoms and specific blood, urine and stool testing.","Curated_Disease_Description_Source__c":"GARD:0006619","GARD_Synonym__c":"berger-goldberg syndrome; coproporphyrinogen oxidase deficiency; cpo - coproporphyrinogen oxidase deficiency; cpo deficiency; cpox deficiency; cpro deficiency; cpx deficiency; hcp; hcp - hereditary coproporphyria; hereditary coproporphyria porphyria; porphyria hepatica coproporphyria; porphyria hepatica ii","Name":"Hereditary coproporphyria","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"United Porphyrias Association","Website__c":"https://www.porphyria.org/"},{"Account_Name__c":"Sociedad Mexicana para Porfiria"},{"Account_Name__c":"American Liver Foundation","Website__c":"https://liverfoundation.org/"},{"Account_Name__c":"American Porphyria Foundation","Website__c":"https://porphyriafoundation.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":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney diseases"},{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"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":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:79273"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:79273"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0162531"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006619","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK114807","Source__c":"Gene Review","Xref__c":"NBK114807"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=7425008","Source__c":"C0162531; MONDO:0007369","Xref__c":"7425008"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A13269","Source__c":"MONDO:0007369","Xref__c":"DOID:13269"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C046349","Source__c":"C0162531; MONDO:0007369","Xref__c":"D046349"},{"URL__c":"https://www.omim.org/entry/121300","Source__c":"C0162531; MONDO:0007369; ORPHA:79273","Xref__c":"OMIM:121300"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=57931","Source__c":"C0162531","Xref__c":"MEDGEN:57931"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84759","Source__c":"C0162531; MONDO:0007369","Xref__c":"C84759"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0162531","Source__c":"C0162531","Xref__c":"C0162531"},{"URL__c":"https://www.orpha.net/en/disease/detail/79273","Source__c":"C0162531; MONDO:0007369; ORPHA:79273","Xref__c":"ORPHA:79273"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007369","Source__c":"GARD:0006619","Xref__c":"MONDO:0007369"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CPOX","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cpox","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79273","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased excretion of porphyrins in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010473","HPO_Name__c":"Porphyrinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79273","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally decreased sodium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002902","HPO_Synonym__c":"Low blood sodium levels","HPO_Name__c":"Hyponatremia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79273","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality in the synthesis or catabolism of heme. Heme is composed of ferrous iron and protoporphyrin IX and is an essential molecule as the prosthetic group of hemeproteins such as hemoglobin, myoglobin, mitochondrial and microsomal cytochromes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010472","HPO_Name__c":"Abnormal circulating porphyrin concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79273","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"A reduction in erythrocytes volume or hemoglobin concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001903","HPO_Synonym__c":"Anaemia; Low number of red blood cells or hemoglobin","HPO_Name__c":"Anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79273","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:79273","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A lack of strength of the proximal muscles of the legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008994","HPO_Synonym__c":"Muscle weakness, proximal, lower limbs; Proximal muscle weakness in lower limbs","HPO_Name__c":"Proximal lower limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79273","HPO_Frequency__c":"Occasional (5-29%)","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:79273","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008528","HPO_Synonym__c":"Long hairs growing from helix of ear","HPO_Name__c":"Long hairs growing from helix of pinna","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79273","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal small intestinal contractions, such as spasms and intestinal paralysis related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012850","HPO_Name__c":"Small intestinal dysmotility","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79273","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003418","HPO_Synonym__c":"Back pain","HPO_Name__c":"Back pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79273","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007178","HPO_Synonym__c":"Peripheral motor neuropathy","HPO_Name__c":"Motor polyneuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79273","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001402","HPO_Name__c":"Hepatocellular carcinoma","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79273","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Unintentional re-experiencing of a traumatic event involves symptoms that typically include sensory impressions and emotional responses stemming from the trauma. These symptoms seem to lack a sense of time perspective and context.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032936","HPO_Synonym__c":"Re-experiencing symptom","HPO_Name__c":"Intrusion symptom","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79273","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A nonspecific term referring to disease or damage of the kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000112","HPO_Name__c":"Nephropathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79273","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002027","HPO_Synonym__c":"Abdominal pain; Pain in stomach; Stomach pain","HPO_Name__c":"Abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79273","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Paroxysmal, recurrent episodes of vomiting.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002572","HPO_Synonym__c":"Episodic vomiting","HPO_Name__c":"Episodic vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79273","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A pattern of hair growth in which there is hair extending from the temples to the lateral eyebrows.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005325","HPO_Synonym__c":"Unusual hairline with hair growth on temples extending to lateral eyebrow","HPO_Name__c":"Extension of hair growth on temples to lateral eyebrow","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79273","HPO_Frequency__c":"Occasional (5-29%)","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:79273","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Body temperature elevated above the normal range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001945","HPO_Synonym__c":"Fever; Hyperthermia; Pyrexia","HPO_Name__c":"Fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79273","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atypically scarred skin .","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000987","HPO_Synonym__c":"Atypical scarring; Atypical scarring of skin","HPO_Name__c":"Atypical scarring of skin","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79273","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal dark color of the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040319","HPO_Name__c":"Dark urine","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79273","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002093","HPO_Synonym__c":"Respiratory impairment","HPO_Name__c":"Respiratory insufficiency","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79273","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A lack of strength of the proximal muscles of the arms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008997","HPO_Synonym__c":"Proximal muscle weakness in upper limbs","HPO_Name__c":"Proximal upper limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79273","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The concentration of porphobilinogen in the urine, normalized for urine concentration, is above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012217","HPO_Name__c":"Increased urinary porphobilinogen","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79273","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Skin that splits easily with minimal injury.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001030","HPO_Synonym__c":"Fragile skin; Skin fragility","HPO_Name__c":"Fragile skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79273","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003163","HPO_Synonym__c":"Elevated urinary delta-aminolevulinic acid","HPO_Name__c":"Elevated urinary delta-aminolevulinic acid","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79273","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any morphological abnormality of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011121","HPO_Synonym__c":"Abnormal skin morphology; Abnormal skin structure; Abnormality of skin morphology","HPO_Name__c":"Abnormal skin morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79273","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:79273","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; 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Heart racing; Racing heart","HPO_Name__c":"Tachycardia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79273","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Excess facial hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009937","HPO_Name__c":"Facial hirsutism","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Nephrology","Gastroenterology","Dermatology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Nephrology","Gastroenterology","Dermatology","Pediatrics"],"Account":["Nephrology","Dermatology","Peripheral Neuropathy"]},"synonyms":["berger-goldberg syndrome"," coproporphyrinogen oxidase deficiency"," cpo - coproporphyrinogen oxidase deficiency"," cpo deficiency"," cpox deficiency"," cpro deficiency"," cpx deficiency"," hcp"," hcp - hereditary coproporphyria"," hereditary coproporphyria porphyria"," porphyria hepatica coproporphyria"," porphyria hepatica ii"]}