{"Name":"Epidermolysis bullosa simplex, Ogna type","DiseaseID__c":"GARD:0002148","id":2148,"encodedName":"epidermolysis-bullosa-simplex-ogna-type","IsDeleted":false,"Disease_Name_Full__c":"Epidermolysis bullosa simplex, Ogna type","Xref_IDs__c":"398071000; C0432317; C535962; DOID:0060736; MEDGEN:98488; MONDO:0007555; OMIM:131950; ORPHA:79401","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":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007555","Disease_Description__c":"A rare, inherited, epidermolysis bullosa simplex characterized by primarily acral blistering with onset typically at birth. Patients have easy bruisability, hemorrhagic blistering, and onychogryphosis.","GARD_Name__c":"Epidermolysis bullosa simplex, Ogna type","GARD_Synonym__c":"ebs-o; ebs-og; ebs5a; ebsog; epidermolysis bullosa simplex 5a, ogna type; epidermolysis bullosa simplex of ogna; pidermolysis bullosa simplex 5a, ogna type; plec-related intermediate ebs without extracutaneous involvement; plec-related intermediate epidermolysis bullosa simplex without extracutaneous involvement","Curated_Disease_Description_Source__c":"MONDO:0007555","Curated_Disease_Description__c":"A rare, inherited, epidermolysis bullosa simplex characterized by primarily acral blistering with onset typically at birth. Patients have easy bruisability, hemorrhagic blistering, and onychogryphosis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:79401","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007555","ORPHANET_ID__c":"ORPHA:79401","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Epidermólisis ampollosa simple intermedia sin afectación extracutánea asociada a plec","Spanish_Description_Source__c":"ORPHA:79401","Spanish_Description__c":"Es una forma hereditaria y poco frecuente de epidermólisis ampollosa simple que se caracteriza por la formación de ampollas principalmente acrales que suelen aparecer al nacimiento. Los pacientes desarrollan con facilidad hematomas, ampollas hemorrágicas y presentan onicogrifosis.","Spanish_Disease_Name__c":"epidermólisis ampollosa simple intermedia sin afectación extracutánea asociada a plec","Spanish_GARD_Synonym__c":"ebs intermedia sin afectación extracutánea asociada a plec","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":"A rare, inherited, epidermolysis bullosa simplex characterized by primarily acral blistering with onset typically at birth. Patients have easy bruisability, hemorrhagic blistering, and onychogryphosis.","Curated_Disease_Description_Source__c":"MONDO:0007555","GARD_Synonym__c":"ebs-o; ebs-og; ebs5a; ebsog; epidermolysis bullosa simplex 5a, ogna type; epidermolysis bullosa simplex of ogna; pidermolysis bullosa simplex 5a, ogna type; plec-related intermediate ebs without extracutaneous involvement; plec-related intermediate epidermolysis bullosa simplex without extracutaneous involvement","Name":"Epidermolysis bullosa simplex, Ogna type","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Epidermolysis Bullosa Medical Research Foundation","Website__c":"https://ebmrf.org/"},{"Account_Name__c":"EB Research Partnership","Website__c":"https://www.ebresearch.org/"},{"Account_Name__c":"DEBRA International","Website__c":"https://www.debra-international.org/"},{"Account_Name__c":"DEBRA of America","Website__c":"https://www.debra.org/"}],"GARD_Disease_Tag__c":[{"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":"Neonatal","Provided_By__c":"ORPHA:79401"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:79401"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0432317"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002148","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0432317","Source__c":"C0432317","Xref__c":"C0432317"},{"URL__c":"https://www.orpha.net/en/disease/detail/79401","Source__c":"C0432317; MONDO:0007555; ORPHA:79401","Xref__c":"ORPHA:79401"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=398071000","Source__c":"C0432317; MONDO:0007555","Xref__c":"398071000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=98488","Source__c":"C0432317","Xref__c":"MEDGEN:98488"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535962","Source__c":"MONDO:0007555","Xref__c":"C535962"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060736","Source__c":"MONDO:0007555","Xref__c":"DOID:0060736"},{"URL__c":"https://www.omim.org/entry/131950","Source__c":"C0432317; MONDO:0007555; ORPHA:79401","Xref__c":"OMIM:131950"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007555","Source__c":"GARD:0002148","Xref__c":"MONDO:0007555"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PLEC","GHR_URL__c":"https://medlineplus.gov/genetics/gene/plec","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79401","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Skin that splits easily with minimal injury.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001030","HPO_Synonym__c":"Fragile skin; Skin fragility","HPO_Name__c":"Fragile skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79401","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200041","HPO_Name__c":"Skin erosion","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79401","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any abnormality of the teeth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000164","HPO_Synonym__c":"Abnormal dentition; Abnormal teeth; Dental abnormalities; Dental abnormality; Dental anomalies","HPO_Name__c":"Abnormality of the dentition","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79401","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Any abnormality of the eye, including location, spacing, and intraocular abnormalities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000478","HPO_Synonym__c":"Abnormal eye; Abnormality of the eye","HPO_Name__c":"Abnormality of the eye","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79401","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008066","HPO_Synonym__c":"Abnormal blistering of the skin; Blister; Blistering, generalized; Blisters; Skin bullae","HPO_Name__c":"Abnormal blistering of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79401","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the heart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001627","HPO_Synonym__c":"Abnormality of cardiac morphology; Abnormality of the heart; Abnormally shaped heart; Cardiac abnormality; Cardiac anomalies; Cardiac anomaly; Congenital heart defect; Congenital heart defects; Heart defect","HPO_Name__c":"Abnormal heart morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79401","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of blistering that affects the skin of the palms of the hands and the soles of the feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007446","HPO_Name__c":"Palmoplantar blistering","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79401","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020073","HPO_Name__c":"Hypopigmented macule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79401","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001034","HPO_Synonym__c":"Hyperpigmented macules; Hyperpigmented spots","HPO_Name__c":"Hypermelanotic macule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79401","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal thickening of the skin of the palms of the hands and the soles of the feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000982","HPO_Synonym__c":"Keratoderma; Palmar and plantar keratoderma; Thickening of palms and soles","HPO_Name__c":"Palmoplantar keratoderma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79401","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Bullae (defined as fluid-filled blisters more than 5 mm in diameter with thin walls) of the skin with an acral distribution (affecting peripheral regions such as hands and feet).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031045","HPO_Name__c":"Acral blistering","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79401","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"An abnormality of the viscera of the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002012","HPO_Synonym__c":"Abnormality of the abdominal organs; Gastrointestinal tract defects","HPO_Name__c":"Abnormality of the abdominal organs","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["ebs-o"," ebs-og"," ebs5a"," ebsog"," epidermolysis bullosa simplex 5a, ogna type"," epidermolysis bullosa simplex of ogna"," pidermolysis bullosa simplex 5a, ogna type"," plec-related intermediate ebs without extracutaneous involvement"," plec-related intermediate epidermolysis bullosa simplex without extracutaneous involvement"]}