{"Name":"Generalized junctional epidermolysis bullosa non-Herlitz type","DiseaseID__c":"GARD:0012922","id":12922,"encodedName":"generalized-junctional-epidermolysis-bullosa-non-herlitz-type","IsDeleted":false,"Disease_Name_Full__c":"Generalized junctional epidermolysis bullosa non-Herlitz type","Xref_IDs__c":"724225008; C0432326; DOID:0060738; MEDGEN:609458; MONDO:0019307; ORPHA:79402","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":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019307","Disease_Description__c":"A form of junctional epidermolysis bullosa (JEB) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement.","GARD_Name__c":"Generalized junctional epidermolysis bullosa non-Herlitz type","GARD_Synonym__c":"gabeb; generalised atrophic benign epidermolysis bullosa; generalised junctional epidermolysis bullosa, non-herlitz type; generalized atrophic benign epidermolysis bullosa; generalized atrophic benign epidermolysis bullosa - gabeb; generalized junctional epidermolysis bullosa, non-herlitz type; intermediate generalized jeb; intermediate generalized junctional epidermolysis bullosa; jeb-nh gen; jeb, generalised intermediate; jeb, generalized intermediate; junctional epidermolysis bullosa disentis type; junctional epidermolysis bullosa generalisata mitis; junctional epidermolysis bullosa generalized intermediate; junctional epidermolysis bullosa mitis; junctional epidermolysis bullosa, disentis type","Curated_Disease_Description_Source__c":"MONDO:0019307","Curated_Disease_Description__c":"A form of junctional epidermolysis bullosa (JEB) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:79402","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019307","ORPHANET_ID__c":"ORPHA:79402","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Epidermólisis ampollosa juntural generalizada intermedia","Spanish_Description_Source__c":"ORPHA:79402","Spanish_Description__c":"Es una forma de epidermólisis ampollosa juntural (EAJ) caracterizada por ampollas generalizadas en la piel, cicatrización atrófica, distrofia ungueal o ausencia de uñas e hipoplasia del esmalte, con afectación extracutánea.","Spanish_Disease_Name__c":"epidermólisis ampollosa juntural generalizada intermedia","Spanish_GARD_Synonym__c":"epidermólisis ampollosa generalizada atrófica benigna; epidermólisis ampollosa juntural generalizada mitis; epidermólisis ampollosa juntural generalizada tipo no herlitz; epidermólisis ampollosa juntural tipo disentis; epidermólisis bullosa juntural generalizada intermedia; gabeb; jeb generalizada intermedia","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 form of junctional epidermolysis bullosa (JEB) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement.","Curated_Disease_Description_Source__c":"MONDO:0019307","GARD_Synonym__c":"gabeb; generalised atrophic benign epidermolysis bullosa; generalised junctional epidermolysis bullosa, non-herlitz type; generalized atrophic benign epidermolysis bullosa; generalized atrophic benign epidermolysis bullosa - gabeb; generalized junctional epidermolysis bullosa, non-herlitz type; intermediate generalized jeb; intermediate generalized junctional epidermolysis bullosa; jeb-nh gen; jeb, generalised intermediate; jeb, generalized intermediate; junctional epidermolysis bullosa disentis type; junctional epidermolysis bullosa generalisata mitis; junctional epidermolysis bullosa generalized intermediate; junctional epidermolysis bullosa mitis; junctional epidermolysis bullosa, disentis type","Name":"Generalized junctional epidermolysis bullosa non-Herlitz type","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"DEBRA of America","Website__c":"https://www.debra.org/"},{"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/"}],"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":"Odontology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:79402"}],"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.ncbi.nlm.nih.gov/books/NBK1125","Source__c":"Gene Review","Xref__c":"NBK1125"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=609458","Source__c":"C0432326","Xref__c":"MEDGEN:609458"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=724225008","Source__c":"MONDO:0019307","Xref__c":"724225008"},{"URL__c":"https://www.orpha.net/en/disease/detail/79402","Source__c":"C0432326; MONDO:0019307; ORPHA:79402","Xref__c":"ORPHA:79402"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060738","Source__c":"MONDO:0019307","Xref__c":"DOID:0060738"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0432326","Source__c":"C0432326","Xref__c":"C0432326"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=254196004","Source__c":"C0432326","Xref__c":"254196004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019307","Source__c":"GARD:0012922","Xref__c":"MONDO:0019307"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LAMA3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/lama3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ITGB4","GHR_URL__c":"https://medlineplus.gov/genetics/gene/itgb4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"COL17A1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/col17a1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"LAMC2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/lamc2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"LAMB3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/lamb3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79402","HPO_Frequency__c":"Occasional (5-29%)","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:79402","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:79402","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the pigmentation of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001000","HPO_Synonym__c":"Abnormal pigmentation; Abnormal skin color; Abnormal skin pigmentation; Abnormality of pigmentation; Abnormality of skin pigmentation; Pigmentary changes; Pigmentary skin changes; Pigmentation anomaly","HPO_Name__c":"Abnormality of skin pigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79402","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004552","HPO_Synonym__c":"Cicatricial alopecia","HPO_Name__c":"Scarring alopecia of scalp","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79402","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001057","HPO_Synonym__c":"Absence of part of skin at birth; Congenital absence of skin; Cutis aplasia","HPO_Name__c":"Aplasia cutis congenita","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79402","HPO_Frequency__c":"Very frequent (80-99%)","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:79402","HPO_Frequency__c":"Occasional (5-29%)","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:79402","HPO_Frequency__c":"Very frequent (80-99%)","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:79402","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Sparseness of the body hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002231","HPO_Synonym__c":"Limited body hair; Little body hair; Sparse body hair; Sparse to absent body hair","HPO_Name__c":"Sparse body hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79402","HPO_Frequency__c":"Frequent (30-79%)","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:79402","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:79402","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"}},{"Provided_By__c":"ORPHA:79402","HPO_Frequency__c":"Very frequent (80-99%)","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:79402","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Odontology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["gabeb"," generalised atrophic benign epidermolysis bullosa"," generalised junctional epidermolysis bullosa, non-herlitz type"," generalized atrophic benign epidermolysis bullosa"," generalized atrophic benign epidermolysis bullosa - gabeb"," generalized junctional epidermolysis bullosa, non-herlitz type"," intermediate generalized jeb"," intermediate generalized junctional epidermolysis bullosa"," jeb-nh gen"," jeb, generalised intermediate"," jeb, generalized intermediate"," junctional epidermolysis bullosa disentis type"," junctional epidermolysis bullosa generalisata mitis"," junctional epidermolysis bullosa generalized intermediate"," junctional epidermolysis bullosa mitis"," junctional epidermolysis bullosa, disentis type"]}