{"Name":"Acral self-healing collodion baby","DiseaseID__c":"GARD:0021108","id":21108,"encodedName":"acral-self-healing-collodion-baby","IsDeleted":false,"Disease_Name_Full__c":"Acral self-healing collodion baby","Xref_IDs__c":"718633009; C4305324; MEDGEN:930993; MONDO:0017268; ORPHA:281127","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":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0017268","Disease_Description__c":"A variant of self-healing collodion baby (SHCB) characterized by the presence at birth of a collodion membrane only at the extremities.","GARD_Name__c":"Acral self-healing collodion baby","GARD_Synonym__c":"acral shcb","Curated_Disease_Description_Source__c":"MONDO:0017268","Curated_Disease_Description__c":"A variant of self-healing collodion baby (SHCB) characterized by the presence at birth of a collodion membrane only at the extremities.","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:281127","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017268","ORPHANET_ID__c":"ORPHA:281127","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Bebé colodión autorresolutivo acral","Spanish_Description_Source__c":"ORPHA:281127","Spanish_Description__c":"Es una variante del bebé colodión autorresolutivo (SHCB; por sus siglas en inglés), caracterizada por la presencia en el nacimiento de una membrana colodión exclusivamente en las extremidades.","Spanish_Disease_Name__c":"bebé colodión autorresolutivo acral","Spanish_GARD_Synonym__c":"bca acral","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 variant of self-healing collodion baby (SHCB) characterized by the presence at birth of a collodion membrane only at the extremities.","Curated_Disease_Description_Source__c":"MONDO:0017268","GARD_Synonym__c":"acral shcb","Name":"Acral 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:281127"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:281127"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1420","Source__c":"Gene Review","Xref__c":"NBK1420"},{"URL__c":"https://www.orpha.net/en/disease/detail/281127","Source__c":"C4305324; MONDO:0017268; ORPHA:281127","Xref__c":"ORPHA:281127"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=930993","Source__c":"C4305324","Xref__c":"MEDGEN:930993"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4305324","Source__c":"C4305324","Xref__c":"C4305324"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718633009","Source__c":"C4305324; MONDO:0017268","Xref__c":"718633009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017268","Source__c":"GARD:0021108","Xref__c":"MONDO:0017268"}],"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}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:281127","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Loss of the outer layer of the epidermis in large, scale-like flakes localized to the palm of the hand and the sole of the foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025524","HPO_Name__c":"Palmoplantar scaling skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:281127","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010783","HPO_Synonym__c":"Redness of skin or mucous membrane","HPO_Name__c":"Erythema","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:281127","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal accumulation of fluid beneath the skin on the back of the hands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007514","HPO_Synonym__c":"Edema of dorsum of hands","HPO_Name__c":"Edema of the dorsum of hands","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:281127","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal accumulation of fluid beneath the skin on the back of the feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012098","HPO_Synonym__c":"Edema of dorsum of feet","HPO_Name__c":"Edema of the dorsum of feet","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:281127","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007559","HPO_Name__c":"Localized epidermolytic hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:281127","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100679","HPO_Name__c":"Lack of skin elasticity","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":["acral shcb"]}