{"Name":"Hypoplastic enamel-onycholysis-hypohidrosis syndrome","DiseaseID__c":"GARD:0005587","id":5587,"encodedName":"hypoplastic-enamel-onycholysis-hypohidrosis-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Hypoplastic enamel-onycholysis-hypohidrosis syndrome","Xref_IDs__c":"400036004; C0406735; C40553; C536736; DOID:6678; MEDGEN:140809; MONDO:0008582; OMIM:189500; ORPHA:2228","USA_Estimate__c":null,"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":null,"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:0008582","Disease_Description__c":"Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia.","GARD_Name__c":"Hypoplastic enamel-onycholysis-hypohidrosis syndrome","GARD_Synonym__c":"ectodermal dysplasia 3, tooth/nail type; ectodermal dysplasia 3, witkop type; hnd; hypodontia and nail dysplasia; hypodontia with nail dysplasia; hypodontia-dysplasia of nails syndrome; hypodontia-nail dysgenesis syndrome; hypodontia-nail dysplasia; nail dysplasia with hypodontia; tns; tooth and nail syndrome; tooth-and-nail syndrome; witkop syndrome; witkop-brearley-gentry syndrome; witkop's syndrome","Curated_Disease_Description_Source__c":"MONDO:0008582","Curated_Disease_Description__c":"Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:2228","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008582","ORPHANET_ID__c":"ORPHA:2228","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hipodoncia-displasia ungueal","Spanish_Description_Source__c":"ORPHA:2228","Spanish_Description__c":"El síndrome de hipodoncia-displasia ungueal es una forma de displasia ectodérmica.","Spanish_Disease_Name__c":"síndrome de hipodoncia-displasia ungueal","Spanish_GARD_Synonym__c":"síndrome de dientes y uñas; síndrome de witkop","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":"Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia.","Curated_Disease_Description_Source__c":"MONDO:0008582","GARD_Synonym__c":"ectodermal dysplasia 3, tooth/nail type; ectodermal dysplasia 3, witkop type; hnd; hypodontia and nail dysplasia; hypodontia with nail dysplasia; hypodontia-dysplasia of nails syndrome; hypodontia-nail dysgenesis syndrome; hypodontia-nail dysplasia; nail dysplasia with hypodontia; tns; tooth and nail syndrome; tooth-and-nail syndrome; witkop syndrome; witkop-brearley-gentry syndrome; witkop's syndrome","Name":"Hypoplastic enamel-onycholysis-hypohidrosis syndrome","estimateUsa":""}],"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:2228"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0406735"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005587","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/189500","Source__c":"C0406735; MONDO:0008582; ORPHA:2228","Xref__c":"OMIM:189500"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=140809","Source__c":"C0406735","Xref__c":"MEDGEN:140809"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536736","Source__c":"MONDO:0008582","Xref__c":"C536736"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0406735","Source__c":"C0406735","Xref__c":"C0406735"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A6678","Source__c":"MONDO:0008582","Xref__c":"DOID:6678"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C40553","Source__c":"C0406735; MONDO:0008582","Xref__c":"C40553"},{"URL__c":"https://www.orpha.net/en/disease/detail/2228","Source__c":"C0406735; MONDO:0008582; ORPHA:2228","Xref__c":"ORPHA:2228"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=400036004","Source__c":"C0406735; MONDO:0008582","Xref__c":"400036004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008582","Source__c":"GARD:0005587","Xref__c":"MONDO:0008582"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MSX1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/msx1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2228","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the morphology of the tooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006482","HPO_Synonym__c":"Abnormality of dental morphology; Abnormality of dental shape; Abnormality of shape of tooth; Abnormally shaped teeth; Deformity of teeth; Dental deformity; Dental malformations; Malformation of teeth; Malformed teeth; Misshapen teeth; Misshapened teeth","HPO_Name__c":"Abnormal dental morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2228","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the fingernails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001231","HPO_Synonym__c":"Abnormal fingernails; Abnormality of the fingernails","HPO_Name__c":"Abnormal fingernail morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2228","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:2228","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000232","HPO_Synonym__c":"Drooping lower lip; Eclabium of lower lip; Everted lower lip; Everted prominent lower lip; Outward turned lower lip","HPO_Name__c":"Everted lower lip vermilion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2228","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Nails that easily break.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001808","HPO_Synonym__c":"Brittle nails","HPO_Name__c":"Fragile nails","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2228","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000698","HPO_Synonym__c":"Cone shaped tooth; Conoid tooth; Peg shaped teeth; Peg tooth; Peg-shaped teeth; Shark tooth","HPO_Name__c":"Conical tooth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2228","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006349","HPO_Synonym__c":"Absence of adult teeth; Absence of permanent teeth; Absence of secondary dentition; Absent permanent teeth; Agenesis of permanent dentition; Agenesis of secondary dentition; Failure of development of permanent teeth; Failure of development of secondary teeth; Missing permanent teeth; No permanent dentition","HPO_Name__c":"Agenesis of permanent teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2228","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000147","HPO_Synonym__c":"Polycystic ovary; Sclerocystic ovaries","HPO_Name__c":"Polycystic ovaries","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2228","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:2228","HPO_Frequency__c":"Very frequent (80-99%)","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:2228","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the toenail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001800","HPO_Synonym__c":"Underdeveloped toenails","HPO_Name__c":"Hypoplastic toenails","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2228","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hair that is fine or thin to the touch.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002213","HPO_Synonym__c":"Fine hair; Fine hair shaft; Fine hair texture; Thin hair; Thin hair shaft; Thin hair texture; Thinned hair","HPO_Name__c":"Fine hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2228","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:2228","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000684","HPO_Synonym__c":"Delayed dental development; Delayed dental eruption; Delayed eruption; Delayed eruption of teeth; Delayed teeth eruption; Delayed tooth eruption; Eruption, delayed; Late eruption of teeth; Late tooth eruption","HPO_Name__c":"Delayed eruption of teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2228","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Longitudinal, linear prominences in the fingernail plate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008402","HPO_Synonym__c":"Longitudinally grooved fingernails; Ridged fingernail","HPO_Name__c":"Ridged fingernail","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2228","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Toenail that appears thin when viewed on end.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012746","HPO_Synonym__c":"Thin toenail","HPO_Name__c":"Thin toenail","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Odontology","Pediatrics"],"Account":["Dermatology","Ectodermal dysplasia"]},"synonyms":["ectodermal dysplasia 3, tooth/nail type"," ectodermal dysplasia 3, witkop type"," hnd"," hypodontia and nail dysplasia"," hypodontia with nail dysplasia"," hypodontia-dysplasia of nails syndrome"," hypodontia-nail dysgenesis syndrome"," hypodontia-nail dysplasia"," nail dysplasia with hypodontia"," tns"," tooth and nail syndrome"," tooth-and-nail syndrome"," witkop syndrome"," witkop-brearley-gentry syndrome"," witkop's syndrome"]}