{"Name":"Odonto-onycho-dermal dysplasia","DiseaseID__c":"GARD:0004054","id":4054,"encodedName":"odonto-onycho-dermal-dysplasia","IsDeleted":false,"Disease_Name_Full__c":"Odonto-onycho-dermal dysplasia","Xref_IDs__c":"403762003; C0796093; C537742; MEDGEN:208666; MONDO:0009773; OMIM:257980; ORPHA:2721","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":1,"Description_Source__c":"MONDO:0009773","Disease_Description__c":"A rare, genetic, ectodermal dysplasia syndrome characterized by dental abnormalities (primarily agenesis of the permanent and deciduous teeth with cone-shaped incisors and canines), onychodysplasia, palmoplantar hyperkeratosis, dry skin and, more variably, hypotrichosis, and sweat gland dysfunction (hyper- or hypohidrosis).","GARD_Name__c":"Odonto-onycho-dermal dysplasia","GARD_Synonym__c":"oodd","Curated_Disease_Description_Source__c":"MONDO:0009773","Curated_Disease_Description__c":"A rare, genetic, ectodermal dysplasia syndrome characterized by dental abnormalities (primarily agenesis of the permanent and deciduous teeth with cone-shaped incisors and canines), onychodysplasia, palmoplantar hyperkeratosis, dry skin and, more variably, hypotrichosis, and sweat gland dysfunction (hyper- or hypohidrosis).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:2721","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009773","ORPHANET_ID__c":"ORPHA:2721","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia odonto-ónico-dérmica","Spanish_Description_Source__c":"ORPHA:2721","Spanish_Description__c":"Es un síndrome de displasia ectodérmica de origen genético poco frecuente caracterizado por anomalías dentales (principalmente agenesia de los dientes permanentes y temporales con incisivos y caninos en forma de cono), onicodisplasia, hiperqueratosis palmoplantar, piel seca y, de forma más variable, hipotricosis y disfunción de las glándulas sudoríparas (hiper- o hipohidrosis).","Spanish_Disease_Name__c":"displasia odonto-ónico-dérmica","Spanish_GARD_Synonym__c":"oodd","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, genetic, ectodermal dysplasia syndrome characterized by dental abnormalities (primarily agenesis of the permanent and deciduous teeth with cone-shaped incisors and canines), onychodysplasia, palmoplantar hyperkeratosis, dry skin and, more variably, hypotrichosis, and sweat gland dysfunction (hyper- or hypohidrosis).","Curated_Disease_Description_Source__c":"MONDO:0009773","GARD_Synonym__c":"oodd","Name":"Odonto-onycho-dermal 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":"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:2721"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0796093"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004054","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/2721","Source__c":"C0796093; MONDO:0009773; ORPHA:2721","Xref__c":"ORPHA:2721"},{"URL__c":"https://www.omim.org/entry/257980","Source__c":"C0796093; MONDO:0009773; ORPHA:2721","Xref__c":"OMIM:257980"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537742","Source__c":"MONDO:0009773","Xref__c":"C537742"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=208666","Source__c":"C0796093","Xref__c":"MEDGEN:208666"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=403762003","Source__c":"C0796093; MONDO:0009773","Xref__c":"403762003"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0796093","Source__c":"C0796093","Xref__c":"C0796093"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009773","Source__c":"GARD:0004054","Xref__c":"MONDO:0009773"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"WNT10A","GHR_URL__c":"https://medlineplus.gov/genetics/gene/wnt10a","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:257980","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008391","HPO_Synonym__c":"Poor fingernail formation","HPO_Name__c":"Dystrophic fingernails","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:257980","Feature__r":{"HPO_Description__c":"Hypergranulosis is an increased thickness of the stratum granulosum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025114","HPO_Name__c":"Hypergranulosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:257980","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000975","HPO_Synonym__c":"Diaphoresis; Excessive sweating; Increased sweating; Profuse sweating; Sweating; Sweating profusely; Sweating, increased","HPO_Name__c":"Hyperhidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:257980","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001810","HPO_Synonym__c":"Dystrophic toenail changes; Poor toenail formation","HPO_Name__c":"Dystrophic toenail","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:257980","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007502","HPO_Synonym__c":"Hyperkeratosis follicularis","HPO_Name__c":"Follicular hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:257980","HPO_Frequency__c":"Frequent (30-79%)","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:257980","Feature__r":{"HPO_Description__c":"An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032152","HPO_Synonym__c":"Carpet tack sign; Chicken skin; Follicular keratosis; Follicular keratotic plug; Follicular plugging; Hyperkeratosis pilaris; Lichen pilaris","HPO_Name__c":"Keratosis pilaris","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:257980","Feature__r":{"HPO_Description__c":"Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010783","HPO_Synonym__c":"Redness of skin or mucous membrane","HPO_Name__c":"Erythema","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:257980","Feature__r":{"HPO_Description__c":"Hair that lacks the luster (shine or gleam) of normal hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011359","HPO_Synonym__c":"Dry hair","HPO_Name__c":"Dry hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:257980","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:257980","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of the primary tooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006481","HPO_Synonym__c":"Abnormality of baby teeth; Abnormality of deciduous teeth; Abnormality of milk teeth","HPO_Name__c":"Abnormality of primary teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:257980","HPO_Frequency__c":"Frequent (30-79%)","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:257980","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":"OMIM:257980","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":"OMIM:257980","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000613","HPO_Synonym__c":"Extreme sensitivity of the eyes to light; Light hypersensitivity; Photodysphoria","HPO_Name__c":"Photophobia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:257980","Feature__r":{"HPO_Description__c":"Aplasia of the nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001798","HPO_Synonym__c":"Absent nails; Aplastic nails","HPO_Name__c":"Anonychia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:257980","Feature__r":{"HPO_Description__c":"Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025092","HPO_Synonym__c":"Acanthosis; Acanthotic epidermis; Thickening of upper layer of skin","HPO_Name__c":"Epidermal acanthosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:257980","Feature__r":{"HPO_Description__c":"The presence of developmental dysplasia of the nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002164","HPO_Synonym__c":"Atypical nail growth; Dysplastic nails; Onychodysplasia","HPO_Name__c":"Nail dysplasia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:257980","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Glossy appearance of the entire tongue surface.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010298","HPO_Synonym__c":"Smooth lingual surface; Smooth surface of tongue; Smooth tongue","HPO_Name__c":"Smooth tongue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:257980","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Sparseness of the body hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002231","HPO_Synonym__c":"Limited body hair; Little body hair; Sparse body hair; Sparse to absent body hair","HPO_Name__c":"Sparse body hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:257980","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Skin characterized by the lack of natural or normal moisture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000958","HPO_Synonym__c":"Dry skin; Xerosis","HPO_Name__c":"Dry skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:257980","HPO_Frequency__c":"Frequent (30-79%)","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":"OMIM:257980","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":"OMIM:257980","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Redness of the skin of the palm of the hand and the sole of the foot caused by hyperemia of the capillaries in the lower layers of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025493","HPO_Name__c":"Palmoplantar erythema","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:257980","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal conical morphology of the incisor tooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011065","HPO_Synonym__c":"Cone shaped front tooth; Conoid incisor; Peg shaped incisors; Peg-shaped incisors; Peg-shaped tooth; Shark tooth incisor","HPO_Name__c":"Conical incisor","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:257980","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally diminished capacity to sweat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000966","HPO_Synonym__c":"Decreased ability to sweat; Decreased sweating; Impaired sweating; Inadequate sweating; Oligohidrosis; Sweating, decreased","HPO_Name__c":"Hypohidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:257980","Feature__r":{"HPO_Description__c":"Formation of an anuclear keratin layer","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040162","HPO_Name__c":"Orthokeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:257980","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000972","HPO_Synonym__c":"Hyperkeratosis of palms and soles; Hyperkeratosis of the palms and soles; Palmoplantar keratoses; Palmoplantar keratosis; Thick palms and soles; Thickened palms and soles; Thickening of the outer layer of the skin of the palms and soles","HPO_Name__c":"Palmoplantar hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:257980","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally increased perspiration on palms and soles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007410","HPO_Synonym__c":"Excessive sweating of palms and soles; Hyperhidrosis of palms and soles","HPO_Name__c":"Palmoplantar hyperhidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:257980","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased space between the primary teeth. Note this phenotype should be distinguished from increased space due purely to microdontia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006313","HPO_Synonym__c":"Generalized spacing of primary teeth; Wide gaps between baby teeth; Wide gaps between primary teeth; Widely spaced baby teeth; Widely spaced deciduous teeth; Widely spaced milk teeth","HPO_Name__c":"Widely spaced primary teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:257980","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hyperkeratosis affecting the sole of the foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007556","HPO_Synonym__c":"Plantar hyperkeratoses","HPO_Name__c":"Plantar hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:257980","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Longitudinal, linear prominences in the nail plate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001807","HPO_Synonym__c":"Grooved nails; Longitudinal ridging; Nail ridging","HPO_Name__c":"Ridged nail","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":["oodd"]}