{"Name":"Ackerman syndrome","DiseaseID__c":"GARD:0000469","id":469,"encodedName":"ackerman-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Ackerman syndrome","Xref_IDs__c":"722280000; C1860167; C538170; MEDGEN:395426; MONDO:0008706; OMIM:200970; ORPHA:2561","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":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008706","Disease_Description__c":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by a variable combination of dental, cutaneous, ocular, and bone abnormalities, including pyramidal and fused molar roots, taurodontism, an abnormal upper lip without a cupid's bow and thickened and wide philtrum, juvenile glaucoma, syndactyly, and clinodactyly. There have been no further descriptions in the literature since 1973.","GARD_Name__c":"Ackerman syndrome","GARD_Synonym__c":"ackerman fused molar rooth syndrome; ackerman fused molar roots syndrome; molar roots, pyramidal, with juvenile glaucoma and unusual upper lip; pyramidal molar-glaucoma-upper abnormal lip syndrome; pyramidal molars-abnormal upper lip syndrome","Curated_Disease_Description_Source__c":"MONDO:0008706","Curated_Disease_Description__c":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by a variable combination of dental, cutaneous, ocular, and bone abnormalities, including pyramidal and fused molar roots, taurodontism, an abnormal upper lip without a cupid's bow and thickened and wide philtrum, juvenile glaucoma, syndactyly, and clinodactyly. There have been no further descriptions in the literature since 1973.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:2561","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008706","ORPHANET_ID__c":"ORPHA:2561","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de molares piramidales-labio superior anómalo","Spanish_Description_Source__c":"ORPHA:2561","Spanish_Description__c":"Es un síndrome dismórfico/con anomalías congénitas múltiples poco frecuente caracterizado por una combinación variable de anomalías dentales, cutáneas, oculares y óseas, que incluye raíces molares fusionadas y de forma piramidal, taurodontismo, labio superior anómalo sin arco de cupido y filtrum engrosado y amplio, glaucoma juvenil, sindactilia y clinodactilia. No ha habido más descripciones en la literatura desde 1973.","Spanish_Disease_Name__c":"síndrome de molares piramidales-labio superior anómalo","Spanish_GARD_Synonym__c":"síndrome de raíz molar fusionada de ackerman","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":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by a variable combination of dental, cutaneous, ocular, and bone abnormalities, including pyramidal and fused molar roots, taurodontism, an abnormal upper lip without a cupid's bow and thickened and wide philtrum, juvenile glaucoma, syndactyly, and clinodactyly. There have been no further descriptions in the literature since 1973.","Curated_Disease_Description_Source__c":"MONDO:0008706","GARD_Synonym__c":"ackerman fused molar rooth syndrome; ackerman fused molar roots syndrome; molar roots, pyramidal, with juvenile glaucoma and unusual upper lip; pyramidal molar-glaucoma-upper abnormal lip syndrome; pyramidal molars-abnormal upper lip syndrome","Name":"Ackerman syndrome","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/"}],"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":"Ectodermal dysplasia","Tag_Category__c":"Account","curated_tag_name":"Ectodermal dysplasias"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2561"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538170","Source__c":"MONDO:0008706","Xref__c":"C538170"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=395426","Source__c":"C1860167","Xref__c":"MEDGEN:395426"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1860167","Source__c":"C1860167","Xref__c":"C1860167"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722280000","Source__c":"C1860167; MONDO:0008706","Xref__c":"722280000"},{"URL__c":"https://www.omim.org/entry/200970","Source__c":"C1860167; MONDO:0008706; ORPHA:2561","Xref__c":"OMIM:200970"},{"URL__c":"https://www.orpha.net/en/disease/detail/2561","Source__c":"C1860167; MONDO:0008706; ORPHA:2561","Xref__c":"ORPHA:2561"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008706","Source__c":"GARD:0000469","Xref__c":"MONDO:0008706"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:200970","Feature__r":{"HPO_Description__c":"Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000679","HPO_Synonym__c":"Taurodont; Taurodontism","HPO_Name__c":"Taurodontia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:200970","Feature__r":{"HPO_Description__c":"Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000289","HPO_Synonym__c":"Increased breadth of philtrum; Increased horizontal dimension of philtrum; Increased transverse dimension of philtrum; Increased width of philtrum; Wide philtrum","HPO_Name__c":"Broad philtrum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:200970","Feature__r":{"HPO_Description__c":"Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000501","HPO_Name__c":"Glaucoma","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Odontology","Pediatrics"],"Account":["Dermatology","Ectodermal dysplasia"]},"synonyms":["ackerman fused molar rooth syndrome"," ackerman fused molar roots syndrome"," molar roots, pyramidal, with juvenile glaucoma and unusual upper lip"," pyramidal molar-glaucoma-upper abnormal lip syndrome"," pyramidal molars-abnormal upper lip syndrome"]}