{"Name":"Non-involuting congenital hemangioma","DiseaseID__c":"GARD:0010890","id":10890,"encodedName":"non-involuting-congenital-hemangioma","IsDeleted":false,"Disease_Name_Full__c":"Non-involuting congenital hemangioma","Xref_IDs__c":"399973007; 703295003; C1275417; C172208; MEDGEN:698685; MONDO:0015403; ORPHA:141179","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":4,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0015403","Disease_Description__c":"Non-involuting congenital hemangioma (NICH) is a rare type of infantile hemangioma, which is a tumor that forms from the abnormal growth of blood vessels in the skin. NICH looks like an oval,purplish mark or bump that can occur on any part of the body. NICH is present from birth (congenital) and increases in size as the child grows. Unlike other hemangiomas, NICH do not disappear spontaneously (involute).","GARD_Name__c":"Non-involuting congenital hemangioma","GARD_Synonym__c":"nich; nich - non-involuting congenital hemangioma; nich - noninvoluting congenital hemangioma; noninvoluting congenital hemangioma","Curated_Disease_Description_Source__c":"GARD:0010890","Curated_Disease_Description__c":"Non-involuting congenital hemangioma (NICH) is a rare type of infantile hemangioma, which is a tumor that forms from the abnormal growth of blood vessels in the skin. NICH looks like an oval, purplish mark or bump that can occur on any part of the body. NICH is present from birth (congenital) and increases in size as the child grows. Unlike other hemangiomas, NICH do not disappear spontaneously (involute).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"during Pregnancy","SourceID__c":"ORPHA:141179","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015403","ORPHANET_ID__c":"ORPHA:141179","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hemangioma congénito no involutivo","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"hemangioma congénito no involutivo","Spanish_GARD_Synonym__c":"nich","Category_Linearization__c":"ORPHA:93890","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":"Non-involuting congenital hemangioma (NICH) is a rare type of infantile hemangioma, which is a tumor that forms from the abnormal growth of blood vessels in the skin. NICH looks like an oval, purplish mark or bump that can occur on any part of the body. NICH is present from birth (congenital) and increases in size as the child grows. Unlike other hemangiomas, NICH do not disappear spontaneously (involute).","Curated_Disease_Description_Source__c":"GARD:0010890","GARD_Synonym__c":"nich; nich - non-involuting congenital hemangioma; nich - noninvoluting congenital hemangioma; noninvoluting congenital hemangioma","Name":"Non-involuting congenital hemangioma","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Vascular Birthmarks Foundation","Website__c":"https://birthmark.org/"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:141179"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1275417","Source__c":"C1275417","Xref__c":"C1275417"},{"URL__c":"https://www.orpha.net/en/disease/detail/141179","Source__c":"C1275417; MONDO:0015403; ORPHA:141179","Xref__c":"ORPHA:141179"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=698685","Source__c":"C1275417","Xref__c":"MEDGEN:698685"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C172208","Source__c":"C1275417; MONDO:0015403","Xref__c":"C172208"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=703295003","Source__c":"C1275417; MONDO:0015403","Xref__c":"703295003"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=399973007","Source__c":"C1275417","Xref__c":"399973007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015403","Source__c":"GARD:0010890","Xref__c":"MONDO:0015403"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:141179","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001028","HPO_Synonym__c":"Strawberry mark","HPO_Name__c":"Hemangioma","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:141179","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001635","HPO_Synonym__c":"Cardiac failure; Cardiac failures; Cardiac insufficiency; CHF; Chronic heart failure; Heart failure","HPO_Name__c":"Congestive heart failure","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:141179","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A hemangioma arising from within visceral structures, the internal organs of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410266","HPO_Name__c":"Visceral hemangioma","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:141179","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007466","HPO_Name__c":"Midfrontal capillary hemangioma","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:141179","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100585","HPO_Synonym__c":"Teleangiectasia of the skin","HPO_Name__c":"Telangiectasia of the skin","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:141179","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100784","HPO_Name__c":"Peripheral arteriovenous fistula","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:141179","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticeable than normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001015","HPO_Synonym__c":"Marked subcutaneous veins; Prominent veins","HPO_Name__c":"Prominent superficial veins","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:141179","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A congenital vascular malformation in the liver composed of masses of blood vessels that are atypical or irregular in arrangement and size.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031207","HPO_Synonym__c":"Hemangioma of the liver; Liver hemangioma","HPO_Name__c":"Hepatic hemangioma","Feature_System__c":"Cardiovascular System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:141179","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007618","HPO_Synonym__c":"Skin calcification","HPO_Name__c":"Subcutaneous calcification","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:141179","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"A vascular tumor of the skin and subcutaneous tissues and characterized by slow angiomatous proliferation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012329","HPO_Synonym__c":"Angioblastoma; Angioblastoma of Nakagawa; Hypertrophic hemangioma; Progressive capillary hemangioma; Tufted hemangioma","HPO_Name__c":"Tufted angioma","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:141179","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in the number of circulating thrombocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001873","HPO_Synonym__c":"Low platelet count","HPO_Name__c":"Thrombocytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:141179","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hemangioma, a benign tumor of the vascular endothelial cells, located in the perineal region, i.e., the region between the anus and the genitals.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031449","HPO_Name__c":"Perineal hemangioma","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Vascular Medicine","Pediatrics"],"Disease Category":["Cancer","Congenital Abnormality"]},"synonyms":["nich"," nich - non-involuting congenital hemangioma"," nich - noninvoluting congenital hemangioma"," noninvoluting congenital hemangioma"],"spanishId":13682,"spanishName":"hemangioma-congenito-no-involutivo"}