{"Name":"Telangiectasia, hereditary hemorrhagic, type 2","DiseaseID__c":"GARD:0009901","id":9901,"encodedName":"telangiectasia-hereditary-hemorrhagic-type-2","IsDeleted":false,"Disease_Name_Full__c":"Telangiectasia, hereditary hemorrhagic, type 2","Xref_IDs__c":"C1838163; MEDGEN:324960; MONDO:0010880; OMIM:600376","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":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0010880","Disease_Description__c":"Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the ACVRL1 gene.","GARD_Name__c":"Telangiectasia, hereditary hemorrhagic, type 2","GARD_Synonym__c":"acvrl1 hereditary hemorrhagic telangiectasia; acvrl1-related hereditary hemorrhagic telangiectasia; hereditary hemorrhagic telangiectasia caused by mutation in acvrl1; hht2; telangiectasia, hereditary hemorrhagic, type ii","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder of the blood vessels. It can cause excessive bleeding. People with HHT can develop abnormal blood vessels called arteriovenous malformations (AVMs) in several areas of the body. AVMs on the skin are called telangiectasias. AVMs can also develop in other parts of the body, including the brain, lungs, liver, or intestines. A change in the ACVRL1 causes HHT type 2. It follows an autosomal dominant pattern of inheritance.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:600376","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010880","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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 hemorrhagic telangiectasia (HHT) is an inherited disorder of the blood vessels. It can cause excessive bleeding. People with HHT can develop abnormal blood vessels called arteriovenous malformations (AVMs) in several areas of the body. AVMs on the skin are called telangiectasias. AVMs can also develop in other parts of the body, including the brain, lungs, liver, or intestines. A change in the ACVRL1 causes HHT type 2. It follows an autosomal dominant pattern of inheritance.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"acvrl1 hereditary hemorrhagic telangiectasia; acvrl1-related hereditary hemorrhagic telangiectasia; hereditary hemorrhagic telangiectasia caused by mutation in acvrl1; hht2; telangiectasia, hereditary hemorrhagic, type ii","Name":"Telangiectasia, hereditary hemorrhagic, type 2","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The Aneurysm and AVM Foundation","Website__c":"https://taafonline.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009901","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1351","Source__c":"Gene Review","Xref__c":"NBK1351"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1838163","Source__c":"C1838163","Xref__c":"C1838163"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=324960","Source__c":"C1838163","Xref__c":"MEDGEN:324960"},{"URL__c":"https://www.omim.org/entry/600376","Source__c":"C1838163; MONDO:0010880","Xref__c":"OMIM:600376"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010880","Source__c":"GARD:0009901","Xref__c":"MONDO:0010880"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ACVRL1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/acvrl1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:600376","Feature__r":{"HPO_Description__c":"Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001217","HPO_Synonym__c":"Clubbing of fingers and toes; Digital clubbing","HPO_Name__c":"Clubbing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600376","Feature__r":{"HPO_Description__c":"Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006107","HPO_Synonym__c":"Finger pad telangiectases; Small dilated blood vessels in fingerpads","HPO_Name__c":"Fingerpad telangiectases","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600376","Feature__r":{"HPO_Description__c":"The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000524","HPO_Synonym__c":"Conjunctival telangiectases; Small dilated blood vessels near membrane covering front of eye and eyelids; Telangiectasia, conjunctival","HPO_Name__c":"Conjunctival telangiectasia","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600376","Feature__r":{"HPO_Description__c":"Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. HRCT images usually show a coarse spidery appearance of the peripheral vascular markings in the lungs. More specific findings are obtained in the pulmonary angiogram where the normally invisible capillary phase is replaced by irregular vascular channels bridging the peripheral branches of pulmonary arteries and veins.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006548","HPO_Synonym__c":"Pulmonary AV malformation","HPO_Name__c":"Pulmonary arteriovenous malformation","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600376","Feature__r":{"HPO_Description__c":"Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002094","HPO_Synonym__c":"Abnormal breathing; Breathing difficulty; Difficult to breathe; Difficulty breathing; Shortness of breath; Trouble breathing","HPO_Name__c":"Dyspnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600376","Feature__r":{"HPO_Description__c":"Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000961","HPO_Synonym__c":"Blue discoloration of the skin","HPO_Name__c":"Cyanosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600376","Feature__r":{"HPO_Description__c":"The vomiting of blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002248","HPO_Synonym__c":"Vomiting blood","HPO_Name__c":"Hematemesis","Feature_System__c":"Cardiovascular System; Digestive System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600376","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002326","HPO_Synonym__c":"Mini stroke; TIA; Transient ischemic attacks","HPO_Name__c":"Transient ischemic attack","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600376","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Telangiectasia affecting the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002604","HPO_Synonym__c":"GI telangiectasia; Small, enlarged blood vessels near skin","HPO_Name__c":"Gastrointestinal telangiectasia","Feature_System__c":"Skin System; Cardiovascular System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600376","Feature__r":{"HPO_Description__c":"The presence of chronic increased pressure in the systemic arterial system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000822","HPO_Synonym__c":"Arterial hypertension; Systemic hypertension","HPO_Name__c":"Hypertension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600376","Feature__r":{"HPO_Description__c":"Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001694","HPO_Name__c":"Right-to-left shunt","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600376","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002249","HPO_Name__c":"Melena","Feature_System__c":"Cardiovascular System; Digestive System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600376","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002390","HPO_Name__c":"Spinal arteriovenous malformation","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600376","Feature__r":{"HPO_Description__c":"Telangiectases in the area of the nails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001232","HPO_Synonym__c":"Nail bed telangiectases","HPO_Name__c":"Nail bed telangiectasia","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600376","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of telangiectases on the skin of palm of hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100869","HPO_Synonym__c":"Telangiectases of palms and soles; Teleangiectases of palms","HPO_Name__c":"Palmar telangiectasia","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600376","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":"OMIM:600376","Feature__r":{"HPO_Description__c":"A collection of pus, immune cells, and other material in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030049","HPO_Synonym__c":"Brain abscess","HPO_Name__c":"Brain abscess","Feature_System__c":"Nervous System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600376","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Telangiectases (small dilated blood vessels) located near the surface of the skin of the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007380","HPO_Synonym__c":"Facial telangiectatic vessels; Telangiectasia, facial","HPO_Name__c":"Facial telangiectasia","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600376","Feature__r":{"HPO_Description__c":"Hemorrhage into the parenchyma of the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001342","HPO_Synonym__c":"Bleeding in brain; Intracerebral hemorrhage","HPO_Name__c":"Cerebral hemorrhage","Feature_System__c":"Nervous System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600376","Feature__r":{"HPO_Description__c":"Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002140","HPO_Name__c":"Ischemic stroke","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600376","Feature__r":{"HPO_Description__c":"An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002629","HPO_Synonym__c":"GI arteriovenous malformation","HPO_Name__c":"Gastrointestinal arteriovenous malformation","Feature_System__c":"Cardiovascular System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600376","Feature__r":{"HPO_Description__c":"Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000214","HPO_Synonym__c":"Labial telangiectasia; Lip telangiectases; Telangiectasia of the lips","HPO_Name__c":"Lip telangiectasia","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600376","Feature__r":{"HPO_Description__c":"Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000227","HPO_Synonym__c":"Lingual telangiectasia","HPO_Name__c":"Tongue telangiectasia","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600376","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006574","HPO_Synonym__c":"Liver arteriovenous malformation","HPO_Name__c":"Hepatic arteriovenous malformation","Feature_System__c":"Cardiovascular System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600376","Feature__r":{"HPO_Description__c":"Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002092","HPO_Synonym__c":"Increased blood pressure in blood vessels of lungs; Pulmonary artery hypertension","HPO_Name__c":"Pulmonary arterial hypertension","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600376","Feature__r":{"HPO_Description__c":"Telangiectasia of the nasal mucosa.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000434","HPO_Synonym__c":"Angioectasia of mucosa of nose; Angioectasia of mucous membrane of nose; Angioectasia of nasal mucous membrane; Nasal mucous membrane telangiectasia; Spider veins of mucosa of nose; Spider veins of mucous membrane of nose; Spider veins of nasal mucous membrane; Telangiectasia of mucosa of nose; Telangiectasia of mucous membrane of nose; Telangiectasia of nasal mucous membrane","HPO_Name__c":"Nasal mucosa telangiectasia","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600376","Feature__r":{"HPO_Description__c":"Atrophy of the capillary lamina of choroid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030491","HPO_Name__c":"Choriocapillaris atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600376","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004406","HPO_Synonym__c":"Recurrent epistaxes; Recurrent epistaxis; Recurring nosebleed; Spontaneous, recurrent nosebleed","HPO_Name__c":"Spontaneous, recurrent epistaxis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600376","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":"OMIM:600376","Feature__r":{"HPO_Description__c":"Hemorrhage occurring between the arachnoid mater and the pia mater.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002138","HPO_Synonym__c":"Subarachnoid hemorrhage","HPO_Name__c":"Subarachnoid hemorrhage","Feature_System__c":"Nervous System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600376","Feature__r":{"HPO_Description__c":"Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002076","HPO_Synonym__c":"Intermittent migraine headaches; Migraine; Migraine headache; Migraine headaches","HPO_Name__c":"Migraine","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600376","Feature__r":{"HPO_Description__c":"Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001901","HPO_Synonym__c":"Abnormally shaped erythrocytes; Erythrocytosis; Increased red blood cells; Polyglobulia","HPO_Name__c":"Polycythemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600376","Feature__r":{"HPO_Description__c":"An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002408","HPO_Synonym__c":"Cerebral AV malformation","HPO_Name__c":"Cerebral arteriovenous malformation","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600376","Feature__r":{"HPO_Description__c":"Dysplasia affecting the vasculature of the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000471","HPO_Synonym__c":"GI angiodysplasia","HPO_Name__c":"Gastrointestinal angiodysplasia","Feature_System__c":"Cardiovascular System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600376","Feature__r":{"HPO_Description__c":"The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002573","HPO_Synonym__c":"Rectal bleeding","HPO_Name__c":"Hematochezia","Feature_System__c":"Cardiovascular System; Digestive System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600376","Feature__r":{"HPO_Description__c":"The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002707","HPO_Synonym__c":"Palatal angioectasia; Palatal telangiectasia; Palate telangiectases; Palate teleangiectases; Telangiectasia of the roof of the mouth","HPO_Name__c":"Palate telangiectasia","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600376","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Presence of telangiectases in the oral cavity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000228","HPO_Synonym__c":"Oral cavity teleangiectasia","HPO_Name__c":"Oral cavity telangiectasia","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600376","Feature__r":{"HPO_Description__c":"A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001394","HPO_Synonym__c":"Hepatic cirrhosis; Scar tissue replaces healthy tissue in the liver","HPO_Name__c":"Cirrhosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Vascular Medicine"]},"synonyms":["acvrl1 hereditary hemorrhagic telangiectasia"," acvrl1-related hereditary hemorrhagic telangiectasia"," hereditary hemorrhagic telangiectasia caused by mutation in acvrl1"," hht2"," telangiectasia, hereditary hemorrhagic, type ii"]}