{"Name":"Ectodermal dysplasia with natal teeth, Turnpenny type","DiseaseID__c":"GARD:0010526","id":10526,"encodedName":"ectodermal-dysplasia-with-natal-teeth-turnpenny-type","IsDeleted":false,"Disease_Name_Full__c":"Ectodermal dysplasia with natal teeth, Turnpenny type","Xref_IDs__c":"715576000; C1832444; C563347; MEDGEN:371331; MONDO:0011041; OMIM:601345; ORPHA:69083","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":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011041","Disease_Description__c":"A rare ectodermal dysplasia syndrome characterized by neonatal teeth, hypo- or oligodontia of the secondary dentition, flexural acanthosis nigricans, and sparse body and scalp hair (the latter being thin and slow-growing). There have been no further descriptions in the literature since 1995.","GARD_Name__c":"Ectodermal dysplasia with natal teeth, Turnpenny type","GARD_Synonym__c":"ectodermal dysplasia with natal teeth turnpenny type; ectodermal dysplasia, hair/tooth type","Curated_Disease_Description_Source__c":"MONDO:0011041","Curated_Disease_Description__c":"A rare ectodermal dysplasia syndrome characterized by neonatal teeth, hypo- or oligodontia of the secondary dentition, flexural acanthosis nigricans, and sparse body and scalp hair (the latter being thin and slow-growing). There have been no further descriptions in the literature since 1995.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as a Child","SourceID__c":"ORPHA:69083","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011041","ORPHANET_ID__c":"ORPHA:69083","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia ectodérmica con dientes natales tipo turnpenny","Spanish_Description_Source__c":"ORPHA:69083","Spanish_Description__c":"Es un síndrome de displasia ectodérmica poco frecuente caracterizado por dientes neonatales, hipo- u oligodontia de la dentición secundaria, acantosis nigricans en zonas de flexión y vello y cabello escasos (siendo este último delgado y de crecimiento lento). No ha habido más casos descritos en la literatura desde 1995.","Spanish_Disease_Name__c":"displasia ectodérmica con dientes natales tipo turnpenny","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 ectodermal dysplasia syndrome characterized by neonatal teeth, hypo- or oligodontia of the secondary dentition, flexural acanthosis nigricans, and sparse body and scalp hair (the latter being thin and slow-growing). There have been no further descriptions in the literature since 1995.","Curated_Disease_Description_Source__c":"MONDO:0011041","GARD_Synonym__c":"ectodermal dysplasia with natal teeth turnpenny type; ectodermal dysplasia, hair/tooth type","Name":"Ectodermal dysplasia with natal teeth, Turnpenny type","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":"Canadian Ectodermal Dysplasia Syndromes Association","Website__c":"https://ectodermaldysplasia.ca/"}],"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:69083"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:69083"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563347","Source__c":"MONDO:0011041","Xref__c":"C563347"},{"URL__c":"https://www.omim.org/entry/601345","Source__c":"C1832444; MONDO:0011041; ORPHA:69083","Xref__c":"OMIM:601345"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1832444","Source__c":"C1832444","Xref__c":"C1832444"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715576000","Source__c":"C1832444; MONDO:0011041","Xref__c":"715576000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=371331","Source__c":"C1832444","Xref__c":"MEDGEN:371331"},{"URL__c":"https://www.orpha.net/en/disease/detail/69083","Source__c":"C1832444; MONDO:0011041; ORPHA:69083","Xref__c":"ORPHA:69083"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011041","Source__c":"GARD:0010526","Xref__c":"MONDO:0011041"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:601345","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601345","Feature__r":{"HPO_Description__c":"Scalp hair whose growth is slower than normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100038","HPO_Synonym__c":"Slow-growing scalp hair","HPO_Name__c":"Slow-growing scalp hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601345","Feature__r":{"HPO_Description__c":"A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000956","HPO_Synonym__c":"Darkened and thickened skin; Keratosis nigricans","HPO_Name__c":"Acanthosis nigricans","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601345","Feature__r":{"HPO_Description__c":"Decreased number of hairs per unit area of skin of the scalp.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002209","HPO_Synonym__c":"Decreased number of scalp follicles; Hypotrichosis on scalp; Reduced amount of scalp hair; Reduced/lack of hair on scalp; Reduction in the number of scalp follicles; Scalp hypotrichosis; Sparse scalp hair; Thinning scalp hair","HPO_Name__c":"Sparse scalp hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601345","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007515","HPO_Name__c":"Hypoplastic pilosebaceous units","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601345","Feature__r":{"HPO_Description__c":"Decreased density/number of eyelashes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000653","HPO_Synonym__c":"Hypotrichosis of eyelashes; Partial absence of eyelashes; Scant eyelashes; Scanty eyelashes; Sparse eyelashes; Thin eyelashes","HPO_Name__c":"Sparse eyelashes","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601345","Feature__r":{"HPO_Description__c":"A tooth present at birth or erupting within the first month of life.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000695","HPO_Synonym__c":"Born with teeth; Natal teeth; Neonatal teeth; Teeth present at birth","HPO_Name__c":"Natal tooth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601345","Feature__r":{"HPO_Description__c":"The absence of six or more teeth from the normal series by a failure to develop.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000677","HPO_Synonym__c":"Failure of development of more than six teeth; Partial anodontia","HPO_Name__c":"Oligodontia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601345","Feature__r":{"HPO_Description__c":"Excessive growth of the bones of cranium, i.e., of the skull.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004437","HPO_Synonym__c":"Hyperostosis of cranial bones; Hyperostosis of cranial vault; Increased ossification of cranial bones","HPO_Name__c":"Cranial hyperostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601345","Feature__r":{"HPO_Description__c":"Decreased density/number of eyebrow hairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045075","HPO_Synonym__c":"Hypotrichosis of eyebrow; Sparse eyebrow; Sparse eyebrows","HPO_Name__c":"Sparse eyebrow","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601345","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":"OMIM:601345","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":"OMIM:601345","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":"OMIM:601345","Feature__r":{"HPO_Description__c":"A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004482","HPO_Synonym__c":"Disproportionately large head; Macrocephaly, relative; Relatively large head","HPO_Name__c":"Relative macrocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601345","Feature__r":{"HPO_Description__c":"Underdevelopment of the sweat glands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007387","HPO_Synonym__c":"Underdeveloped sweat glands","HPO_Name__c":"Hypoplastic sweat glands","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 with natal teeth turnpenny type"," ectodermal dysplasia, hair/tooth type"]}