{"Name":"Nonsyndromic congenital nail disorder 7","DiseaseID__c":"GARD:0009761","id":9761,"encodedName":"nonsyndromic-congenital-nail-disorder-7","IsDeleted":false,"Disease_Name_Full__c":"Nonsyndromic congenital nail disorder 7","Xref_IDs__c":"403281007; C538333; C5574953; DOID:0080085; MEDGEN:1803839; MONDO:0011595; OMIM:605779; ORPHA:79144","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":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":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:79144","Disease_Description__c":"A rare isolated nail anomaly characterized by congenital unilateral or bilateral nail dysplasia (including micronychia, polyonychia, anonychia, hemionychrogryphosis, and malalignment) commonly involving the index fingers and/or other fingers or also toes, frequently associated with bony anomalies of the affected digits (such as Y-shaped bifurcation of the distal phalanx, brachymesophalangy, or syndactyly). The condition can be sporadic or familial.","GARD_Name__c":"Nonsyndromic congenital nail disorder 7","GARD_Synonym__c":"coif; coif syndrome; congenital isolated onychodysplasia; congenital onychodysplasia of the index fingers; iso-kikuchi syndrome; isolated congenital onychodysplasia; nonsyndromic congenital nail disorder type 7; onychodysplasia, isolated congenital","Curated_Disease_Description_Source__c":"ORPHA:79144","Curated_Disease_Description__c":"A rare isolated nail anomaly characterized by congenital unilateral or bilateral nail dysplasia (including micronychia, polyonychia, anonychia, hemionychrogryphosis, and malalignment) commonly involving the index fingers and/or other fingers or also toes, frequently associated with bony anomalies of the affected digits (such as Y-shaped bifurcation of the distal phalanx, brachymesophalangy, or syndactyly). The condition can be sporadic or familial.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:79144","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011595","ORPHANET_ID__c":"ORPHA:79144","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Onicodisplasia congénita aislada","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"onicodisplasia congénita aislada","Spanish_GARD_Synonym__c":"coif; onicodisplasia congénita de los dedos índices; síndrome coif; síndrome de iso-kikuchi","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":"A rare isolated nail anomaly characterized by congenital unilateral or bilateral nail dysplasia (including micronychia, polyonychia, anonychia, hemionychrogryphosis, and malalignment) commonly involving the index fingers and/or other fingers or also toes, frequently associated with bony anomalies of the affected digits (such as Y-shaped bifurcation of the distal phalanx, brachymesophalangy, or syndactyly). The condition can be sporadic or familial.","Curated_Disease_Description_Source__c":"ORPHA:79144","GARD_Synonym__c":"coif; coif syndrome; congenital isolated onychodysplasia; congenital onychodysplasia of the index fingers; iso-kikuchi syndrome; isolated congenital onychodysplasia; nonsyndromic congenital nail disorder type 7; onychodysplasia, isolated congenital","Name":"Nonsyndromic congenital nail disorder 7","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":"Neonatal","Provided_By__c":"ORPHA:79144"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080085","Source__c":"MONDO:0011595","Xref__c":"DOID:0080085"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1803839","Source__c":"C5574953","Xref__c":"MEDGEN:1803839"},{"URL__c":"https://www.omim.org/entry/605779","Source__c":"C5574953; MONDO:0011595; ORPHA:79144","Xref__c":"OMIM:605779"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=403281007","Source__c":"MONDO:0011595","Xref__c":"403281007"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5574953","Source__c":"C5574953","Xref__c":"C5574953"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538333","Source__c":"MONDO:0011595","Xref__c":"C538333"},{"URL__c":"https://www.orpha.net/en/disease/detail/79144","Source__c":"C5574953; MONDO:0011595","Xref__c":"ORPHA:79144"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1254893000","Source__c":"C5574953","Xref__c":"1254893000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011595","Source__c":"GARD:0009761","Xref__c":"MONDO:0011595"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79144","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:79144","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A lateral deviation of the nail plate of the great toe along the longitudinal axis due to the lateral rotation of the nail matrix. The nail plate grows out in ridges.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031282","HPO_Name__c":"Malalignment of the great toenail","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79144","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of developmental dysplasia of the hip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001385","HPO_Synonym__c":"Congenital hip dysplasia; DDH; Developmental dysplasia of the hip","HPO_Name__c":"Hip dysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79144","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal flat nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030803","HPO_Name__c":"Platonychia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79144","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000202","HPO_Synonym__c":"Cleft of the mouth; Oral cleft; Oral clefting","HPO_Name__c":"Orofacial cleft","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79144","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:79144","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79144","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Reduced diameter of the distal phalanx of finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012296","HPO_Synonym__c":"Slender outermost bone of finger","HPO_Name__c":"Slender distal phalanx of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79144","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Thickened fingernails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040036","HPO_Synonym__c":"Overgrowth and curving of fingernail","HPO_Name__c":"Onychogryphosis of fingernail","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79144","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Partial duplication of the distal phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009951","HPO_Synonym__c":"Bifid terminal phalanx of the 2nd finger; Notched outermost bone of the index finger; Partial duplication of the outermost bone of the 2nd finger","HPO_Name__c":"Partial duplication of the distal phalanx of the 2nd finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79144","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A digit with two nails, with at least some soft tissue between them.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010793","HPO_Synonym__c":"duplicated nail; Notched nail","HPO_Name__c":"Bifid nail","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79144","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Syndactyly with fusion of toes two and three.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004691","HPO_Synonym__c":"2-3 syndactyly of feet; 2-3 toe soft tissue syndactyly; 2-3 toes syndactyly; partial or complete syndactyly 2nd-3rd toes; Syndactyly of second and third toes; Toe syndactyly, 2-3; Webbed 2nd and 3rd toes","HPO_Name__c":"2-3 toe syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79144","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:79144","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased width of nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011313","HPO_Synonym__c":"Narrow nail","HPO_Name__c":"Narrow nail","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79144","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Excessive growth of a nail laterally into the nail fold.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012710","HPO_Synonym__c":"Ingrown nail","HPO_Name__c":"Ingrown nail","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79144","HPO_Frequency__c":"Very frequent (80-99%)","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:79144","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormalities affecting the phalanx of finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005918","HPO_Synonym__c":"Abnormal form of phalanges of the hand; Abnormality of phalanx of finger; Abnormality of the finger bones; Abnormality of the phalanges; Abnormality of the phalanges of the hand","HPO_Name__c":"Abnormal finger phalanx morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79144","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012203","HPO_Name__c":"Onychomycosis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79144","HPO_Frequency__c":"Very frequent (80-99%)","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:79144","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Thickened toenails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008401","HPO_Synonym__c":"Overgrowth and curving of toenails","HPO_Name__c":"Onychogryphosis of toenails","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79144","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A nail that is diminished in length and width, i.e., underdeveloped nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001792","HPO_Synonym__c":"Hypoplastic nail; Hypoplastic nails; Nail hypoplasia; Small nail; Small nails","HPO_Name__c":"Small nail","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79144","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Lack of the lunula at the base of a nail. The lunula is the crescent-shaped whitish area of the bed of a fingernail or toenail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030805","HPO_Synonym__c":"Absent lunulae; Lunula absent; Lunulae absent","HPO_Name__c":"Absent lunula","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["coif"," coif syndrome"," congenital isolated onychodysplasia"," congenital onychodysplasia of the index fingers"," iso-kikuchi syndrome"," isolated congenital onychodysplasia"," nonsyndromic congenital nail disorder type 7"," onychodysplasia, isolated congenital"]}