{"Name":"Infantile digital fibromatosis","DiseaseID__c":"GARD:0008487","id":8487,"encodedName":"infantile-digital-fibromatosis","IsDeleted":false,"Disease_Name_Full__c":"Infantile digital fibromatosis","Xref_IDs__c":"399903008; C1318562; C3456; MEDGEN:232929; MONDO:0016039; ORPHA:199267","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":3,"Description_Source__c":"ORPHA:199267","Disease_Description__c":"Infantile digital fibromatosis is a rare, benign, superficial fibromatosis characterized by firm, pinkish to flesh-colored, solitary or multiple nodular growths, typically less than 2 cm in size. They occur on the dorsal or lateral aspect of fingers and toes and have a tendency to recur. Histology reveals bland intradermal spindle cells with spherical perinuclear inclusion bodies.","GARD_Name__c":"Infantile digital fibromatosis","GARD_Synonym__c":"digital fibrous tumor of reye; digital fibrous tumour of reye; inclusion body fibromatosis; inclusion body fibromatosis (disease); infantile digital fibroma; infantile digital fibroma/fibromatosis; infantile digital myofibroblastoma; recurring digital fibrous tumor of childhood; recurring digital fibrous tumour of childhood; reye tumor; reye tumour; reye's tumor; reye's tumour","Curated_Disease_Description_Source__c":"ORPHA:199267","Curated_Disease_Description__c":"A rare, benign, superficial fibromatosis characterized by firm, pinkish to flesh-colored, solitary or multiple nodular growths, typically less than 2 cm in size. They occur on the dorsal or lateral aspect of fingers and toes and have a tendency to recur. Histology reveals bland intradermal spindle cells with spherical perinuclear inclusion bodies.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Birth to Childhood","SourceID__c":"ORPHA:199267","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016039","ORPHANET_ID__c":"ORPHA:199267","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Fibromatosis digital infantil","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"fibromatosis digital infantil","Spanish_GARD_Synonym__c":"fibromatosis con cuerpos de inclusión; tumor de reye; tumor fibroso digital recurrente de la infancia","Category_Linearization__c":"ORPHA:250908","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":"A rare, benign, superficial fibromatosis characterized by firm, pinkish to flesh-colored, solitary or multiple nodular growths, typically less than 2 cm in size. They occur on the dorsal or lateral aspect of fingers and toes and have a tendency to recur. Histology reveals bland intradermal spindle cells with spherical perinuclear inclusion bodies.","Curated_Disease_Description_Source__c":"ORPHA:199267","GARD_Synonym__c":"digital fibrous tumor of reye; digital fibrous tumour of reye; inclusion body fibromatosis; inclusion body fibromatosis (disease); infantile digital fibroma; infantile digital fibroma/fibromatosis; infantile digital myofibroblastoma; recurring digital fibrous tumor of childhood; recurring digital fibrous tumour of childhood; reye tumor; reye tumour; reye's tumor; reye's tumour","Name":"Infantile digital fibromatosis","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":"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":"Infancy","Provided_By__c":"ORPHA:199267"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:199267"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:199267"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3456","Source__c":"C1318562; MONDO:0016039","Xref__c":"C3456"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1318562","Source__c":"C1318562","Xref__c":"C1318562"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=232929","Source__c":"C1318562","Xref__c":"MEDGEN:232929"},{"URL__c":"https://www.orpha.net/en/disease/detail/199267","Source__c":"C1318562; MONDO:0016039; ORPHA:199267","Xref__c":"ORPHA:199267"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=399903008","Source__c":"C1318562; MONDO:0016039","Xref__c":"399903008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016039","Source__c":"GARD:0008487","Xref__c":"MONDO:0016039"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0025197","Source__c":"C1318562","Xref__c":"HP:0025197"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1290969006","Source__c":"C1318562","Xref__c":"1290969006"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:199267","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025092","HPO_Synonym__c":"Acanthosis; Acanthotic epidermis; Thickening of upper layer of skin","HPO_Name__c":"Epidermal acanthosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199267","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001036","HPO_Name__c":"Parakeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199267","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hyperkeratosis is a histopathological term defining a thickened stratum corneum and may be present in many different skin conditions, with many possible overlaps. Hyperkeratosis refers to the increased thickness of the stratum corneum, the outer layer of the skin. Hyperkeratosis is subclassified as orthokeratotic or parakeratotic. Orthokeratotic hyperkeratosis refers to the thickening of the keratin layer with preserved keratinocyte maturation, while parakeratotic hyperkeratosis shows retained nuclei as a sign of delayed maturation of keratinocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000962","HPO_Synonym__c":"Epidermal hyperkeratosis","HPO_Name__c":"Hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199267","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200036","HPO_Synonym__c":"Growth of abnormal tissue on or under the skin","HPO_Name__c":"Skin nodule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199267","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012531","HPO_Synonym__c":"Pain","HPO_Name__c":"Pain","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Dermatology","Pediatrics"],"Disease Category":["Cancer","Dermatology"],"Account":["Dermatology"]},"synonyms":["digital fibrous tumor of reye"," digital fibrous tumour of reye"," inclusion body fibromatosis"," inclusion body fibromatosis (disease)"," infantile digital fibroma"," infantile digital fibroma/fibromatosis"," infantile digital myofibroblastoma"," recurring digital fibrous tumor of childhood"," recurring digital fibrous tumour of childhood"," reye tumor"," reye tumour"," reye's tumor"," reye's tumour"]}