{"Name":"Recessive dystrophic epidermolysis bullosa inversa","DiseaseID__c":"GARD:0016720","id":16720,"encodedName":"recessive-dystrophic-epidermolysis-bullosa-inversa","IsDeleted":false,"Disease_Name_Full__c":"Recessive dystrophic epidermolysis bullosa inversa","Xref_IDs__c":"C1275113; MEDGEN:698413; MONDO:0019310; ORPHA:79409","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:0019310","Disease_Description__c":"A rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blisters and erosions which from adolescence or early adulthood are primarily confined to flexural skin sites.","GARD_Name__c":"Recessive dystrophic epidermolysis bullosa inversa","GARD_Synonym__c":"dystrophic epidermolysis bullosa inversa; dystrophic epidermolysis bullosa inverse type; inverse rdeb; inverse recessive dystrophic epidermolysis bullosa; rdeb inversa; rdeb-i","Curated_Disease_Description_Source__c":"MONDO:0019310","Curated_Disease_Description__c":"A rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blisters and erosions which from adolescence or early adulthood are primarily confined to flexural skin sites.","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:79409","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019310","ORPHANET_ID__c":"ORPHA:79409","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Epidermólisis ampollosa distrófica invertida recesiva","Spanish_Description_Source__c":"ORPHA:79409","Spanish_Description__c":"Es un subtipo poco frecuente de epidermólisis ampollosa distrófica (EAD) caracterizado por ampollas y erosiones de inicio en la adolescencia o la edad adulta temprana que se localizan, principalmente, en las áreas de flexión de la piel.","Spanish_Disease_Name__c":"epidermólisis ampollosa distrófica invertida recesiva","Spanish_GARD_Synonym__c":"epidermólisis ampollosa distrófica invertida autosómica recesiva; epidermólisis bullosa distrófica invertida recesiva; rdeb invertida","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 subtype of dystrophic epidermolysis bullosa (DEB) characterized by blisters and erosions which from adolescence or early adulthood are primarily confined to flexural skin sites.","Curated_Disease_Description_Source__c":"MONDO:0019310","GARD_Synonym__c":"dystrophic epidermolysis bullosa inversa; dystrophic epidermolysis bullosa inverse type; inverse rdeb; inverse recessive dystrophic epidermolysis bullosa; rdeb inversa; rdeb-i","Name":"Recessive dystrophic epidermolysis bullosa inversa","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:79409"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:79409"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1304","Source__c":"Gene Review","Xref__c":"NBK1304"},{"URL__c":"https://www.orpha.net/en/disease/detail/79409","Source__c":"C1275113; MONDO:0019310; ORPHA:79409","Xref__c":"ORPHA:79409"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1275113","Source__c":"C1275113","Xref__c":"C1275113"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=698413","Source__c":"C1275113","Xref__c":"MEDGEN:698413"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019310","Source__c":"GARD:0016720","Xref__c":"MONDO:0019310"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=403809003","Source__c":"C1275113","Xref__c":"403809003"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"COL7A1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/col7a1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79409","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the dental enamel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006297","HPO_Synonym__c":"Dental enamel hypoplasia; Enamel hypotrophy; Enamel, underdeveloped; Hypoplasia of dental enamel; Hypoplasia of tooth enamel; Underdeveloped teeth enamel","HPO_Name__c":"Enamel hypoplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79409","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A lesion of the skin that is located in a specific region rather than being generalized.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011355","HPO_Synonym__c":"Localized skin lesion","HPO_Name__c":"Localized skin lesion","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79409","HPO_Frequency__c":"Occasional (5-29%)","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:79409","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001056","HPO_Synonym__c":"Milk spot; Millium cyst","HPO_Name__c":"Milia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79409","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A narrowing of the vagina owing to scar formation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025416","HPO_Name__c":"Vaginal stricture","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79409","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in erythrocytes volume or hemoglobin concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001903","HPO_Synonym__c":"Anaemia; Low number of red blood cells or hemoglobin","HPO_Name__c":"Anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79409","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002043","HPO_Synonym__c":"Narrowing of esophagus due to inflammation and scar tissue","HPO_Name__c":"Esophageal stricture","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79409","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000670","HPO_Synonym__c":"Caries; Cariosity of teeth; Dental caries; Dental cavities; Early dental caries; Frequent caries; Tooth cavities; Tooth decay","HPO_Name__c":"Carious teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79409","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of one or more bullae on the skin of the genital region, 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:0031464","HPO_Name__c":"Genital blistering","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79409","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a \\\"mitten\\\" hand deformity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004057","HPO_Synonym__c":"Pseudosyndactyly","HPO_Name__c":"Mitten deformity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79409","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001965","HPO_Synonym__c":"Abnormality of the scalp; Anomaly of scalp","HPO_Name__c":"Abnormal scalp morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79409","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Blisters arising in the mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200097","HPO_Synonym__c":"Blebs of oral mucosa; Blisters of mouth; Bullae of oral mucosa; Oral blistering; Oral mucosal blisters","HPO_Name__c":"Oral mucosal blisters","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79409","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"The presence of a melanoma of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012056","HPO_Name__c":"Cutaneous melanoma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79409","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"A structural anomaly of the respiratory system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012252","HPO_Name__c":"Abnormal respiratory system morphology","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79409","HPO_Frequency__c":"Excluded (0%)","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:79409","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A deficiency or slowing down of growth pre- and postnatally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001510","HPO_Synonym__c":"Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth","HPO_Name__c":"Growth delay","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79409","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Aplasia of the nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001798","HPO_Synonym__c":"Absent nails; Aplastic nails","HPO_Name__c":"Anonychia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79409","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"The presence of squamous cell carcinoma of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002860","HPO_Name__c":"Squamous cell carcinoma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79409","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Narrowing of the urethra associated with inflammation or scar tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012227","HPO_Name__c":"Urethral stricture","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79409","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001075","HPO_Synonym__c":"Sunken or indented skin due to damage; Thin, atrophic scars","HPO_Name__c":"Atrophic scars","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79409","HPO_Frequency__c":"Excluded (0%)","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":"ORPHA:79409","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:79409","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the urinary system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000079","HPO_Synonym__c":"Urinary tract abnormalities; Urinary tract abnormality; Urinary tract anomalies","HPO_Name__c":"Abnormality of the urinary system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79409","HPO_Frequency__c":"Very frequent (80-99%)","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:79409","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:79409","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the alimentary part of the gastrointestinal system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004386","HPO_Synonym__c":"Gastrointestinal inflammation; GI inflammation","HPO_Name__c":"Gastrointestinal inflammation","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79409","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal narrowing of the external auditory canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000402","HPO_Synonym__c":"External auditory canal stenosis; Narrow auditory canals; Narrow external auditory canals; Narrow external auditory meatus; Narrowing of passageway from outer ear to middle ear; Stenotic external auditory canal","HPO_Name__c":"Stenosis of the external auditory canal","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79409","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008404","HPO_Synonym__c":"Dystrophic nails; Onychodystrophy; Poor nail formation","HPO_Name__c":"Nail dystrophy","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["dystrophic epidermolysis bullosa inversa"," dystrophic epidermolysis bullosa inverse type"," inverse rdeb"," inverse recessive dystrophic epidermolysis bullosa"," rdeb inversa"," rdeb-i"]}