{"Name":"Multiple self-healing squamous epithelioma","DiseaseID__c":"GARD:0003090","id":3090,"encodedName":"multiple-self-healing-squamous-epithelioma","IsDeleted":false,"Disease_Name_Full__c":"Multiple self-healing squamous epithelioma","Xref_IDs__c":"254659009; C0546476; C4461; C536150; DOID:5585; MEDGEN:154270; MONDO:0007566; OMIM:132800; ORPHA:65748","USA_Estimate__c":null,"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":null,"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":4,"Description_Source__c":"MONDO:0007566","Disease_Description__c":"Multiple self-healing squamous epithelioma (also known as Ferguson-Smith disease (FSD)) is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors resembling keratoacanthomas of the face and limbs which usually heal spontaneously after several months leaving pitted scars.","GARD_Name__c":"Multiple self-healing squamous epithelioma","GARD_Synonym__c":"familial primary self-healing squamous epithelioma of the skin, ferguson-smith type; ferguson-smith disease; ferguson-smith syndrome; ferguson-smith tumor; ferguson-smith tumour; msse; multiple keratoacanthoma, ferguson-smith type; multiple self healing epithelioma of ferguson-smith; multiple self-healing epithelioma of ferguson-smith; multiple self-healing squamous epithelioma, susceptibility to; self-healing squamous epithelioma type 1","Curated_Disease_Description_Source__c":"MONDO:0007566","Curated_Disease_Description__c":"Multiple self-healing squamous epithelioma (also known as Ferguson-Smith disease (FSD)) is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors resembling keratoacanthomas of the face and limbs which usually heal spontaneously after several months leaving pitted scars.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:65748","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007566","ORPHANET_ID__c":"ORPHA:65748","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Epitelioma escamoso autocurativo múltiple","Spanish_Description_Source__c":"ORPHA:65748","Spanish_Description__c":"Es un cáncer de piel hereditario poco frecuente caracterizado por el desarrollo de múltiples tumores cutáneos localmente invasivos similares a queratoacantomas en la cara y extremidades y que, generalmente, suelen resolverse espontáneamente tras varios meses, dejando cicatrices residuales.","Spanish_Disease_Name__c":"epitelioma escamoso autocurativo múltiple","Spanish_GARD_Synonym__c":"enfermedad de ferguson-smith; epitelioma escamoso autocurativo 1; epitelioma escamoso autocurativo primario familiar de la piel, tipo ferguson-smith; ess1; msse; queratoacantoma múltiple tipo ferguson-smith","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":"Multiple self-healing squamous epithelioma (also known as Ferguson-Smith disease (FSD)) is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors resembling keratoacanthomas of the face and limbs which usually heal spontaneously after several months leaving pitted scars.","Curated_Disease_Description_Source__c":"MONDO:0007566","GARD_Synonym__c":"familial primary self-healing squamous epithelioma of the skin, ferguson-smith type; ferguson-smith disease; ferguson-smith syndrome; ferguson-smith tumor; ferguson-smith tumour; msse; multiple keratoacanthoma, ferguson-smith type; multiple self healing epithelioma of ferguson-smith; multiple self-healing epithelioma of ferguson-smith; multiple self-healing squamous epithelioma, susceptibility to; self-healing squamous epithelioma type 1","Name":"Multiple self-healing squamous epithelioma","estimateUsa":""}],"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":"Elderly","Provided_By__c":"ORPHA:65748"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:65748"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:65748"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:65748"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003090","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=154270","Source__c":"C0546476","Xref__c":"MEDGEN:154270"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0546476","Source__c":"C0546476","Xref__c":"C0546476"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=254659009","Source__c":"C0546476; MONDO:0007566","Xref__c":"254659009"},{"URL__c":"https://www.omim.org/entry/132800","Source__c":"MONDO:0007566; ORPHA:65748","Xref__c":"OMIM:132800"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C4461","Source__c":"C0546476; MONDO:0007566","Xref__c":"C4461"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A5585","Source__c":"MONDO:0007566","Xref__c":"DOID:5585"},{"URL__c":"https://www.orpha.net/en/disease/detail/65748","Source__c":"C0546476; MONDO:0007566; ORPHA:65748","Xref__c":"ORPHA:65748"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536150","Source__c":"MONDO:0007566","Xref__c":"C536150"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007566","Source__c":"GARD:0003090","Xref__c":"MONDO:0007566"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TGFBR1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tgfbr1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:132800","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of skin tumor that initially presents as a reddish macule and subsequently becomes papular, enlarged, ulcerated and ultimately heals leaving pitted scars.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034720","HPO_Name__c":"Self-healing squamous epithelioma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Dermatology","Pediatrics"],"Disease Category":["Cancer","Genetics","Dermatology"],"Cause":["Genetics"],"Account":["Dermatology"]},"synonyms":["familial primary self-healing squamous epithelioma of the skin, ferguson-smith type"," ferguson-smith disease"," ferguson-smith syndrome"," ferguson-smith tumor"," ferguson-smith tumour"," msse"," multiple keratoacanthoma, ferguson-smith type"," multiple self healing epithelioma of ferguson-smith"," multiple self-healing epithelioma of ferguson-smith"," multiple self-healing squamous epithelioma, susceptibility to"," self-healing squamous epithelioma type 1"]}