{"Name":"Self-healing collodion baby","DiseaseID__c":"GARD:0017303","id":17303,"encodedName":"self-healing-collodion-baby","IsDeleted":false,"Disease_Name_Full__c":"Self-healing collodion baby","Xref_IDs__c":"718632004; C1855789; C565473; MEDGEN:383772; MONDO:0017267; ORPHA:281122","USA_Estimate__c":"1,000","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":"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":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0017267","Disease_Description__c":"Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life.","GARD_Name__c":"Self-healing collodion baby","GARD_Synonym__c":"self-improving collodion baby; self-improving congenital ichthyosis; shcb; sici","Curated_Disease_Description_Source__c":"ORPHA:281122","Curated_Disease_Description__c":"Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:281122","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017267","ORPHANET_ID__c":"ORPHA:281122","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Bebé colodión autorresolutivo","Spanish_Description_Source__c":"ORPHA:281122","Spanish_Description__c":"El bebé colodión autorresolutivo (SHCB; por sus siglas en inglés) es una variante leve de ictiosis congénita autosómica recesiva (ICAR, consulte este término), caracterizada por la presencia en el nacimiento de una membrana colodión que se cura en las primeras semanas de vida.","Spanish_Disease_Name__c":"bebé colodión autorresolutivo","Spanish_GARD_Synonym__c":"bca","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":"Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life.","Curated_Disease_Description_Source__c":"ORPHA:281122","GARD_Synonym__c":"self-improving collodion baby; self-improving congenital ichthyosis; shcb; sici","Name":"Self-healing collodion baby","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Foundation for Ichthyosis and Related Skin Types","Website__c":"https://www.firstskinfoundation.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":"Ophthalmology","Tag_Category__c":"Specialist"},{"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":"Ichthyosis","Tag_Category__c":"Account","curated_tag_name":"Ichthyosis"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:281122"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1420","Source__c":"Gene Review","Xref__c":"NBK1420"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1855789","Source__c":"C1855789","Xref__c":"C1855789"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718632004","Source__c":"C1855789; MONDO:0017267","Xref__c":"718632004"},{"URL__c":"https://www.orpha.net/en/disease/detail/281122","Source__c":"C1855789; MONDO:0017267; ORPHA:281122","Xref__c":"ORPHA:281122"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565473","Source__c":"MONDO:0017267","Xref__c":"C565473"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=383772","Source__c":"C1855789","Xref__c":"MEDGEN:383772"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017267","Source__c":"GARD:0017303","Xref__c":"MONDO:0017267"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TGM1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tgm1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ALOXE3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/aloxe3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ALOX12B","GHR_URL__c":"https://medlineplus.gov/genetics/gene/alox12b","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:281122","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in the freedom of movement of one or more joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001376","HPO_Synonym__c":"Decreased joint mobility; Decreased mobility of joints; Limitation of joint mobility; Limited joint mobility; Limited joint motion","HPO_Name__c":"Limitation of joint mobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:281122","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008064","HPO_Synonym__c":"Ichthyosiform abnormality of the skin; Ichthyotic skin","HPO_Name__c":"Ichthyosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Dermatology","Pediatrics"],"Account":["Dermatology","Ichthyosis"]},"synonyms":["self-improving collodion baby"," self-improving congenital ichthyosis"," shcb"," sici"]}