{"Name":"Congenital anosmia","DiseaseID__c":"GARD:0009486","id":9486,"encodedName":"congenital-anosmia","IsDeleted":false,"Disease_Name_Full__c":"Congenital anosmia","Xref_IDs__c":"230502003; C0393778; C535983; MEDGEN:95992; MONDO:0007137; OMIM:107200; ORPHA:88620","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007137","Disease_Description__c":"A rare otorhinolaryngologic disease characterized by total or partial anosmia at birth. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. Isolated congenital anosmia is found in some parents of individuals with Kallman syndrome.","GARD_Name__c":"Congenital anosmia","GARD_Synonym__c":"anic; isolated congenital anosmia","Curated_Disease_Description_Source__c":"GARD:0009486","Curated_Disease_Description__c":"Congenital anosmia is a condition in which people are born with a lifelong inability to smell. It may occur as an isolated abnormality (no additional symptoms) or be associated with a specific genetic disorder (such as Kallmann syndrome or congenital insensitivity to pain). Isolated Congenital anosmia usually occurs in people who do not have a family history of the disease, although some familial cases have been reported. In most cases of isolated Congenital anosmia, the genetic cause in unknown.","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:88620","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007137","ORPHANET_ID__c":"ORPHA:88620","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Anosmia congénita aislada","Spanish_Description_Source__c":"ORPHA:88620","Spanish_Description__c":"Es una enfermedad otorrinolaringológica poco frecuente caracterizada por anosmia total o parcial al nacimiento. La anosmia se produce por un defecto del desarrollo de los bulbos olfatorios o por sustitución del epitelio olfatorio por epitelio respiratorio. La anosmia congénita aislada se ha descrito en algunos padres de pacientes con el síndrome de Kallman.","Spanish_Disease_Name__c":"anosmia congénita aislada","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98036","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":"Congenital anosmia is a condition in which people are born with a lifelong inability to smell. It may occur as an isolated abnormality (no additional symptoms) or be associated with a specific genetic disorder (such as Kallmann syndrome or congenital insensitivity to pain). Isolated Congenital anosmia usually occurs in people who do not have a family history of the disease, although some familial cases have been reported. In most cases of isolated Congenital anosmia, the genetic cause in unknown.","Curated_Disease_Description_Source__c":"GARD:0009486","GARD_Synonym__c":"anic; isolated congenital anosmia","Name":"Congenital anosmia","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Fifth Sense UK","Website__c":"https://www.fifthsense.org.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":"Otolaryngology","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:88620"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:88620"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009486","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535983","Source__c":"MONDO:0007137","Xref__c":"C535983"},{"URL__c":"https://www.omim.org/entry/107200","Source__c":"C0393778; MONDO:0007137; ORPHA:88620","Xref__c":"OMIM:107200"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=230502003","Source__c":"C0393778; MONDO:0007137","Xref__c":"230502003"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0393778","Source__c":"C0393778","Xref__c":"C0393778"},{"URL__c":"https://www.orpha.net/en/disease/detail/88620","Source__c":"C0393778; MONDO:0007137; ORPHA:88620","Xref__c":"ORPHA:88620"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=95992","Source__c":"C0393778","Xref__c":"MEDGEN:95992"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007137","Source__c":"GARD:0009486","Xref__c":"MONDO:0007137"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TENM1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CNGA2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:107200","Feature__r":{"HPO_Description__c":"An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000458","HPO_Synonym__c":"Loss of smell; Lost smell","HPO_Name__c":"Anosmia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Otolaryngology","Pediatrics"]},"synonyms":["anic"," isolated congenital anosmia"]}