{"Name":"Odontomicronychial dysplasia","DiseaseID__c":"GARD:0004053","id":4053,"encodedName":"odontomicronychial-dysplasia","IsDeleted":false,"Disease_Name_Full__c":"Odontomicronychial dysplasia","Xref_IDs__c":"C1832473; C537741; MEDGEN:371336; MONDO:0011034; OMIM:601319; ORPHA:1811","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":1,"Description_Source__c":"MONDO:0011034","Disease_Description__c":"A rare, hereditary ectodermal dysplasia syndrome characterized by involvement of teeth and nails - precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails.","GARD_Name__c":"Odontomicronychial dysplasia","GARD_Synonym__c":"ectodermal dysplasia, nail/tooth type","Curated_Disease_Description_Source__c":"MONDO:0011034","Curated_Disease_Description__c":"A rare, hereditary ectodermal dysplasia syndrome characterized by involvement of teeth and nails - precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:1811","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011034","ORPHANET_ID__c":"ORPHA:1811","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia odontomicroniquial","Spanish_Description_Source__c":"ORPHA:1811","Spanish_Description__c":"Es un síndrome de displasia ectodérmica hereditaria poco frecuente caracterizado por la afectación de dientes y uñas: erupción precoz y desprendimiento de la dentición temporal, erupción precoz de la dentición secundaria con raíces cortas y romboidales, así como uñas cortas, finas y de crecimiento lento.","Spanish_Disease_Name__c":"displasia odontomicroniquial","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":"A rare, hereditary ectodermal dysplasia syndrome characterized by involvement of teeth and nails - precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails.","Curated_Disease_Description_Source__c":"MONDO:0011034","GARD_Synonym__c":"ectodermal dysplasia, nail/tooth type","Name":"Odontomicronychial dysplasia","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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:1811"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/601319","Source__c":"C1832473; MONDO:0011034; ORPHA:1811","Xref__c":"OMIM:601319"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=371336","Source__c":"C1832473","Xref__c":"MEDGEN:371336"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1832473","Source__c":"C1832473","Xref__c":"C1832473"},{"URL__c":"https://www.orpha.net/en/disease/detail/1811","Source__c":"C1832473; MONDO:0011034; ORPHA:1811","Xref__c":"ORPHA:1811"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537741","Source__c":"MONDO:0011034","Xref__c":"C537741"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011034","Source__c":"GARD:0004053","Xref__c":"MONDO:0011034"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1811","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased length of nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001799","HPO_Synonym__c":"Short nail; Short nails","HPO_Name__c":"Short nail","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1811","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000968","HPO_Name__c":"Ectodermal dysplasia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1811","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Loss of the primary (also known as deciduous) teeth before the usual age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006323","HPO_Synonym__c":"Early loss of baby teeth; Early loss of deciduous teeth; Early loss of primary teeth; Premature deciduous tooth loss; Premature loss of baby teeth; Premature loss of deciduous teeth","HPO_Name__c":"Premature loss of primary teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1811","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Nail that appears thin when viewed on end.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001816","HPO_Synonym__c":"Thin nail; Thin nails","HPO_Name__c":"Thin nail","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1811","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Premature tooth eruption of the permanent dentition.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006337","HPO_Synonym__c":"Early eruption of adult teeth; Early eruption of permanent teeth; Precocious eruption of secondary dentition; Precocious eruption of secondary teeth; Premature eruption of adult teeth","HPO_Name__c":"Premature eruption of permanent teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1811","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal structure or appearance of the nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001597","HPO_Synonym__c":"Abnormality of the nail","HPO_Name__c":"Abnormal nail morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1811","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Nails whose growth is slower than normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008383","HPO_Synonym__c":"Slow-growing nails","HPO_Name__c":"Slow-growing nails","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1811","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:1811","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000670","HPO_Synonym__c":"Caries; Cariosity of teeth; Dental caries; Dental cavities; Early dental caries; Frequent caries; Tooth cavities; Tooth decay","HPO_Name__c":"Carious teeth","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Odontology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["ectodermal dysplasia, nail/tooth type"]}