{"Name":"Nonsyndromic congenital nail disorder 1","DiseaseID__c":"GARD:0010363","id":10363,"encodedName":"nonsyndromic-congenital-nail-disorder-1","IsDeleted":false,"Disease_Name_Full__c":"Nonsyndromic congenital nail disorder 1","Xref_IDs__c":"238719003; C0406443; C562907; DOID:0080079; MEDGEN:96056; MONDO:0008060; OMIM:161050; ORPHA:79153","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008060","Disease_Description__c":"A rare isolated nail anomaly characterized by brittle, thin, rough, opaque appearing nails with excessive longitudinal ridging. In a less severe form, the nails retain their luster and present with superficial ridging and multiple small geometric pits. In both varieties, superficial scaling of the nail plate and hyperkeratosis of the cuticles, as well as koilonychia and onychoschizia are observed. Any number of nails may be affected, and fingernails are more often affected than toenails. Spontaneous improvement of the condition may occur.","GARD_Name__c":"Nonsyndromic congenital nail disorder 1","GARD_Synonym__c":"claw-shaped nails; fzd6 inherited isolated nail anomaly; idiopathic trachyonychia; inherited isolated nail anomaly caused by mutation in fzd6; nail disorder, nonsyndromic congenital, 10; nail disorder, nonsyndromic congenital, type 10; nonsyndromic congenital nail disorder 10; nonsyndromic congenital nail disorder type 1; nonsyndromic congenital nail disorder type 10; onychauxis, hyponychia, and onycholysis; onychodystrophy totalis; onychodystrophy totalis, isolated; twenty nail dystrophy; twenty nail trachyonychia; twenty-nail dystrophy","Curated_Disease_Description_Source__c":"GARD:0010363","Curated_Disease_Description__c":"Nonsyndromic congenital nail disorder 10 is a condition that affects the fingernails and toenails. Affected individuals have extremely thick nails (onychauxis) that separate from the underlying nail bed (onycholysis) and can appear claw-like. Some fingers and toes may be missing part of the nail (hyponychia). In affected individuals, the nails are often abnormal from birth. However, the abnormalities may not be noticeable until later in childhood because the nails tend to grow more slowly than normal. Individuals with nonsyndromic congenital nail disorder 10 do not have any other health problems related to the condition.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:79153","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008060","ORPHANET_ID__c":"ORPHA:79153","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia ungueal","Spanish_Description_Source__c":"ORPHA:79153","Spanish_Description__c":"Es una anomalía ungueal aislada poco frecuente caracterizada por uñas quebradizas, finas, ásperas y de apariencia opaca con numerosas estrías longitudinales. En las formas más leves, las uñas conservan su brillo y presentan estrías superficiales y múltiples depresiones geométricas diminutas. En ambas variantes se observa una descamación superficial de la placa ungueal y una hiperqueratosis de las cutículas, así como coiloniquia y onicosquisis. Puede afectar a una o a varias uñas y, con mayor frecuencia, a las de las manos. Puede producirse una mejoría espontánea de la afección.","Spanish_Disease_Name__c":"displasia ungueal","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:89826","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":"Nonsyndromic congenital nail disorder 10 is a condition that affects the fingernails and toenails. Affected individuals have extremely thick nails (onychauxis) that separate from the underlying nail bed (onycholysis) and can appear claw-like. Some fingers and toes may be missing part of the nail (hyponychia). In affected individuals, the nails are often abnormal from birth. However, the abnormalities may not be noticeable until later in childhood because the nails tend to grow more slowly than normal. Individuals with nonsyndromic congenital nail disorder 10 do not have any other health problems related to the condition.","Curated_Disease_Description_Source__c":"GARD:0010363","GARD_Synonym__c":"claw-shaped nails; fzd6 inherited isolated nail anomaly; idiopathic trachyonychia; inherited isolated nail anomaly caused by mutation in fzd6; nail disorder, nonsyndromic congenital, 10; nail disorder, nonsyndromic congenital, type 10; nonsyndromic congenital nail disorder 10; nonsyndromic congenital nail disorder type 1; nonsyndromic congenital nail disorder type 10; onychauxis, hyponychia, and onycholysis; onychodystrophy totalis; onychodystrophy totalis, isolated; twenty nail dystrophy; twenty nail trachyonychia; twenty-nail dystrophy","Name":"Nonsyndromic congenital nail disorder 1","estimateUsa":""}],"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:79153"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0406443"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=96056","Source__c":"C0406443","Xref__c":"MEDGEN:96056"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562907","Source__c":"MONDO:0008060","Xref__c":"C562907"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=238719003","Source__c":"C0406443; MONDO:0008060","Xref__c":"238719003"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0406443","Source__c":"C0406443","Xref__c":"C0406443"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080079","Source__c":"MONDO:0008060","Xref__c":"DOID:0080079"},{"URL__c":"https://www.orpha.net/en/disease/detail/79153","Source__c":"C0406443; MONDO:0008060","Xref__c":"ORPHA:79153"},{"URL__c":"https://www.omim.org/entry/161050","Source__c":"C0406443; MONDO:0008060","Xref__c":"OMIM:161050"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008060","Source__c":"GARD:0010363","Xref__c":"MONDO:0008060"},{"URL__c":"https://medlineplus.gov/genetics/condition/nonsyndromic-congenital-nail-disorder-10","Source__c":"GARD:0010363","Xref__c":"https://medlineplus.gov/genetics/condition/nonsyndromic-congenital-nail-disorder-10"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FZD6","GHR_URL__c":"https://medlineplus.gov/genetics/gene/fzd6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79153","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001047","HPO_Synonym__c":"Allergic eczema; Atopic dermatitis, chronic; Atopic eczema; Dermatitis, Atopic; Infantile eczema; Neurodermatitis; Prurigo Besnier","HPO_Name__c":"Atopic dermatitis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79153","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The natural longitudinal (posterodistal) convex arch is not present or is inverted.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001598","HPO_Synonym__c":"Koilonychia; Spoon-shaped nails","HPO_Name__c":"Concave nail","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79153","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"}},{"Provided_By__c":"ORPHA:79153","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of thrombocytopenia in combination with detection of antiplatelet antibodies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001973","HPO_Synonym__c":"Idiopathic thrombocytopenia; Immune thrombocytopenia","HPO_Name__c":"Autoimmune thrombocytopenia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79153","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002232","HPO_Synonym__c":"Alopecia areata; Patchy baldness","HPO_Name__c":"Patchy alopecia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79153","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":"ORPHA:79153","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008404","HPO_Synonym__c":"Dystrophic nails; Onychodystrophy; Poor nail formation","HPO_Name__c":"Nail dystrophy","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79153","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001045","HPO_Synonym__c":"Blotchy loss of skin color","HPO_Name__c":"Vitiligo","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79153","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the development of the fingernails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100798","HPO_Synonym__c":"Abnormal fingernail development; Dysplastic fingernails","HPO_Name__c":"Fingernail dysplasia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79153","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Small (typically about 1 mm or less in size) depressions on the dorsal nail surface.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001803","HPO_Synonym__c":"Nail pits; Nail pitting; Pitted nails","HPO_Name__c":"Nail pits","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79153","HPO_Frequency__c":"Frequent (30-79%)","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:79153","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the development of the toenails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100797","HPO_Synonym__c":"Abnormal toenail development; Dysplastic toenails","HPO_Name__c":"Toenail dysplasia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79153","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the region around the nails of the fingers or toes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100803","HPO_Synonym__c":"Abnormality of the periungual region","HPO_Name__c":"Abnormal periungual morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79153","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Pathologic deposits of specific fibrillar protein aggregates with distinct microscopic properties, particularly affinity for the dye Congo red with typical birefringence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011034","HPO_Name__c":"Amyloid deposition","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79153","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012531","HPO_Synonym__c":"Pain","HPO_Name__c":"Pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79153","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A thickening of the stratum corneum, the outer layer of the skin, in the region surrounding the nails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008399","HPO_Synonym__c":"Thick skin around nails","HPO_Name__c":"Circumungual hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79153","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008064","HPO_Synonym__c":"Ichthyosiform abnormality of the skin; Ichthyotic skin","HPO_Name__c":"Ichthyosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["claw-shaped nails"," fzd6 inherited isolated nail anomaly"," idiopathic trachyonychia"," inherited isolated nail anomaly caused by mutation in fzd6"," nail disorder, nonsyndromic congenital, 10"," nail disorder, nonsyndromic congenital, type 10"," nonsyndromic congenital nail disorder 10"," nonsyndromic congenital nail disorder type 1"," nonsyndromic congenital nail disorder type 10"," onychauxis, hyponychia, and onycholysis"," onychodystrophy totalis"," onychodystrophy totalis, isolated"," twenty nail dystrophy"," twenty nail trachyonychia"," twenty-nail dystrophy"]}