{"Name":"Hyperhidrosis, premature cavities and premolar aplasia","DiseaseID__c":"GARD:0000932","id":932,"encodedName":"hyperhidrosis-premature-cavities-and-premolar-aplasia","IsDeleted":false,"Disease_Name_Full__c":"Hyperhidrosis, premature cavities and premolar aplasia","Xref_IDs__c":"722296002; C0457014; C562993; MEDGEN:99140; MONDO:0007207; OMIM:112300; ORPHA:1262","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"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":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007207","Disease_Description__c":"A rare autosomal dominant ectodermal dysplasia syndrome characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features may include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics.","GARD_Name__c":"Hyperhidrosis, premature cavities and premolar aplasia","GARD_Synonym__c":"book syndrome; böök syndrome; phc syndrome","Curated_Disease_Description_Source__c":"GARD:0000932","Curated_Disease_Description__c":"Book syndrome is a very rare type of ectodermal dysplasia. Signs and symptoms include premolar aplasia (when the premolars fail to develop); excessive sweating (hyperhidrosis); and premature graying of the hair. Other features that have been reported in only one person include a narrow palate (roof of the mouth); hypoplastic (underdeveloped) nails; eyebrow anomalies; a unilateral simian crease; and poorly formed dermatoglyphics (skin patterns on the hands and feet). Book syndrome is inherited in an autosomal dominant manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:1262","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007207","ORPHANET_ID__c":"ORPHA:1262","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de böök","Spanish_Description_Source__c":"ORPHA:1262","Spanish_Description__c":"Es un síndrome de displasia ectodérmica autosómico dominante caracterizado por aplasia premolar, hiperhidrosis y encanecimiento prematuro del cabello. Otros rasgos adicionales descritos incluyen paladar estrecho, hipoplasia ungueal, anomalías en las cejas, pliegue simiesco unilateral, y dermatoglifos mal formados.","Spanish_Disease_Name__c":"síndrome de böök","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93890","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":"Book syndrome is a very rare type of ectodermal dysplasia. Signs and symptoms include premolar aplasia (when the premolars fail to develop); excessive sweating (hyperhidrosis); and premature graying of the hair. Other features that have been reported in only one person include a narrow palate (roof of the mouth); hypoplastic (underdeveloped) nails; eyebrow anomalies; a unilateral simian crease; and poorly formed dermatoglyphics (skin patterns on the hands and feet). Book syndrome is inherited in an autosomal dominant manner.","Curated_Disease_Description_Source__c":"GARD:0000932","GARD_Synonym__c":"book syndrome; böök syndrome; phc syndrome","Name":"Hyperhidrosis, premature cavities and premolar aplasia","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Foundation for Ectodermal Dysplasias","Website__c":"https://www.nfed.org/"},{"Account_Name__c":"The Ectodermal Dysplasia Society","Website__c":"https://edsociety.co.uk/"}],"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":"Ectodermal dysplasia","Tag_Category__c":"Account","curated_tag_name":"Ectodermal dysplasias"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:1262"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/112300","Source__c":"C0457014; MONDO:0007207; ORPHA:1262","Xref__c":"OMIM:112300"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562993","Source__c":"MONDO:0007207","Xref__c":"C562993"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0457014","Source__c":"C0457014","Xref__c":"C0457014"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=99140","Source__c":"C0457014","Xref__c":"MEDGEN:99140"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722296002","Source__c":"C0457014; MONDO:0007207","Xref__c":"722296002"},{"URL__c":"https://www.orpha.net/en/disease/detail/1262","Source__c":"C0457014; MONDO:0007207; ORPHA:1262","Xref__c":"ORPHA:1262"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007207","Source__c":"GARD:0000932","Xref__c":"MONDO:0007207"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1262","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Development of gray hair at a younger than normal age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002216","HPO_Synonym__c":"Early graying; Premature graying; Premature graying of hair; Premature hair graying","HPO_Name__c":"Premature graying of hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1262","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of a fingernail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001804","HPO_Synonym__c":"Small fingernail; Underdeveloped fingernail","HPO_Name__c":"Hypoplastic fingernail","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1262","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the eyebrow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000534","HPO_Synonym__c":"Abnormality of the eyebrow","HPO_Name__c":"Abnormal eyebrow morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1262","HPO_Frequency__c":"Very frequent (80-99%)","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:1262","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The absence of five or less teeth from the normal series by a failure to develop.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000668","HPO_Synonym__c":"Failure of development of between one and six teeth","HPO_Name__c":"Hypodontia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1262","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007598","HPO_Name__c":"Bilateral single transverse palmar creases","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1262","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Disproportionately small hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200055","HPO_Synonym__c":"Disproportionately small hands; Small hand","HPO_Name__c":"Small hand","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1262","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000975","HPO_Synonym__c":"Diaphoresis; Excessive sweating; Increased sweating; Profuse sweating; Sweating; Sweating profusely; Sweating, increased","HPO_Name__c":"Hyperhidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1262","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007477","HPO_Synonym__c":"Abnormal fingerprints; Dermatoglyphic abnormalities","HPO_Name__c":"Abnormal dermatoglyphics","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1262","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000189","HPO_Synonym__c":"Decreased palatal width; Decreased transverse dimension of palate; Narrow palate; Narrow roof of mouth","HPO_Name__c":"Narrow palate","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology"],"Account":["Dermatology","Ectodermal dysplasia"]},"synonyms":["book syndrome"," böök syndrome"," phc syndrome"]}