{"Name":"Rombo syndrome","DiseaseID__c":"GARD:0004738","id":4738,"encodedName":"rombo-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Rombo syndrome","Xref_IDs__c":"721904001; C1867147; C535870; MEDGEN:356704; MONDO:0008390; OMIM:180730; ORPHA:3110","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008390","Disease_Description__c":"Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas.","GARD_Name__c":"Rombo syndrome","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MONDO:0008390","Curated_Disease_Description__c":"Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:3110","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008390","ORPHANET_ID__c":"ORPHA:3110","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de rombo","Spanish_Description_Source__c":"ORPHA:3110","Spanish_Description__c":"ES un síndrome caracterizado por atrofodermia vermiculada, milia, hipotricosis, tricoepiteliomas, vasodilatación periférica con cianosis y carcinoma de células basales.","Spanish_Disease_Name__c":"síndrome de rombo","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":"Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas.","Curated_Disease_Description_Source__c":"MONDO:0008390","Name":"Rombo syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:3110"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/3110","Source__c":"C1867147; MONDO:0008390; ORPHA:3110","Xref__c":"ORPHA:3110"},{"URL__c":"https://www.omim.org/entry/180730","Source__c":"C1867147; MONDO:0008390; ORPHA:3110","Xref__c":"OMIM:180730"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535870","Source__c":"MONDO:0008390","Xref__c":"C535870"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1867147","Source__c":"C1867147","Xref__c":"C1867147"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=356704","Source__c":"C1867147","Xref__c":"MEDGEN:356704"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=721904001","Source__c":"C1867147; MONDO:0008390","Xref__c":"721904001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008390","Source__c":"GARD:0004738","Xref__c":"MONDO:0008390"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:180730","Feature__r":{"HPO_Description__c":"An abnormality of the eyelashes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000499","HPO_Synonym__c":"Abnormal eyelashes; Abnormality of the eyelashes; Eyelash abnormality","HPO_Name__c":"Abnormal eyelash morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:180730","Feature__r":{"HPO_Description__c":"The presence of a basal cell carcinoma of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002671","HPO_Synonym__c":"Basal cell carcinomas; Basal cell epithelioma; Basal cell nevus; Basalioma","HPO_Name__c":"Basal cell carcinoma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:180730","Feature__r":{"HPO_Description__c":"An abnormality of the eyebrow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000534","HPO_Synonym__c":"Abnormality of the eyebrow","HPO_Name__c":"Abnormal eyebrow morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:180730","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"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Dermatology","Pediatrics"],"Disease Category":["Cancer","Genetics","Dermatology"],"Cause":["Genetics"],"Account":["Dermatology"]},"synonyms":[""]}