{"Name":"Naegeli-Franceschetti-Jadassohn syndrome","DiseaseID__c":"GARD:0003912","id":3912,"encodedName":"naegeli-franceschetti-jadassohn-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Naegeli-Franceschetti-Jadassohn syndrome","Xref_IDs__c":"239084001; C0343111; C538331; DOID:0111528; MEDGEN:91010; MONDO:0008059; OMIM:161000; ORPHA:69087","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008059","Disease_Description__c":"A rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth.","GARD_Name__c":"Naegeli-Franceschetti-Jadassohn syndrome","GARD_Synonym__c":"franceschetti-jadassohn syndrome; naegeli syndrome; naegeli's syndrome; nfj syndrome; nfjs","Curated_Disease_Description_Source__c":"GARD:0003912","Curated_Disease_Description__c":"Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR) represents a rare type of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands. NFJS and DPR were originally described as separate conditions; however, because they have similar features and are caused by mutations in the same gene, they are now often considered forms of the same disorder. Among the most common signs of NFJS/DPR is a net-like pattern of dark brown or gray skin coloring, known as reticulate hyperpigmentation. This darker pigmentation is seen most often on the neck, chest, and abdomen, although it can also occur in and around the eyes and mouth. Reticulate hyperpigmentation appears in infancy or early childhood. It may fade with age or persist throughout life. NFJS/DPR also affects the skin on the hands and feet. The skin on the palms of the hands and soles of the feet often becomes thick, hard, and callused, a condition known as palmoplantar keratoderma. Some affected individuals also have blistering on their palms and soles. Their fingernails and toenails may be malformed, brittle, and either thicker or thinner than usual. Most affected individuals are missing the patterned ridges on the skin of the hands and feet, called dermatoglyphs, that are the basis for each person's unique fingerprints. Additional features of NFJS/DPR can include a reduced ability to sweat (hypohidrosis) or excess sweating (hyperhidrosis) and dental abnormalities. Some affected individuals also have hair loss (alopecia) on the scalp, eyebrows, and underarms. The alopecia is described as noncicatricial because it does not leave scars (cicatrices).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:69087","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008059","ORPHANET_ID__c":"ORPHA:69087","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de naegeli-franceschetti-jadassohn","Spanish_Description_Source__c":"ORPHA:69087","Spanish_Description__c":"El síndrome de Naegeli-Franceschetti-Jadassohn (NFJ) es una rara displasia ectodérmica que afecta la piel, glándulas sudoríparas, uñas y dientes.","Spanish_Disease_Name__c":"síndrome de naegeli-franceschetti-jadassohn","Spanish_GARD_Synonym__c":"síndrome de naegeli; síndrome de nfj","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":"Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR) represents a rare type of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands. NFJS and DPR were originally described as separate conditions; however, because they have similar features and are caused by mutations in the same gene, they are now often considered forms of the same disorder. Among the most common signs of NFJS/DPR is a net-like pattern of dark brown or gray skin coloring, known as reticulate hyperpigmentation. This darker pigmentation is seen most often on the neck, chest, and abdomen, although it can also occur in and around the eyes and mouth. Reticulate hyperpigmentation appears in infancy or early childhood. It may fade with age or persist throughout life. NFJS/DPR also affects the skin on the hands and feet. The skin on the palms of the hands and soles of the feet often becomes thick, hard, and callused, a condition known as palmoplantar keratoderma. Some affected individuals also have blistering on their palms and soles. Their fingernails and toenails may be malformed, brittle, and either thicker or thinner than usual. Most affected individuals are missing the patterned ridges on the skin of the hands and feet, called dermatoglyphs, that are the basis for each person's unique fingerprints. Additional features of NFJS/DPR can include a reduced ability to sweat (hypohidrosis) or excess sweating (hyperhidrosis) and dental abnormalities. Some affected individuals also have hair loss (alopecia) on the scalp, eyebrows, and underarms. The alopecia is described as noncicatricial because it does not leave scars (cicatrices).","Curated_Disease_Description_Source__c":"GARD:0003912","GARD_Synonym__c":"franceschetti-jadassohn syndrome; naegeli syndrome; naegeli's syndrome; nfj syndrome; nfjs","Name":"Naegeli-Franceschetti-Jadassohn syndrome","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":"The Ectodermal Dysplasia Society","Website__c":"https://edsociety.co.uk/"}],"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":"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":"Infancy","Provided_By__c":"ORPHA:69087"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:69087"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0343111"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003912","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538331","Source__c":"MONDO:0008059","Xref__c":"C538331"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=91010","Source__c":"C0343111","Xref__c":"MEDGEN:91010"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0343111","Source__c":"C0343111","Xref__c":"C0343111"},{"URL__c":"https://www.omim.org/entry/161000","Source__c":"C0343111; MONDO:0008059; ORPHA:69087","Xref__c":"OMIM:161000"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=239084001","Source__c":"C0343111; MONDO:0008059","Xref__c":"239084001"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111528","Source__c":"MONDO:0008059","Xref__c":"DOID:0111528"},{"URL__c":"https://www.orpha.net/en/disease/detail/69087","Source__c":"C0343111; MONDO:0008059; ORPHA:69087","Xref__c":"ORPHA:69087"},{"URL__c":"https://medlineplus.gov/genetics/condition/naegeli-franceschetti-jadassohn-syndrome-dermatopathia-pigmentosa-reticularis","Source__c":"GARD:0003912","Xref__c":"https://medlineplus.gov/genetics/condition/naegeli-franceschetti-jadassohn-syndrome-dermatopathia-pigmentosa-reticularis"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008059","Source__c":"GARD:0003912","Xref__c":"MONDO:0008059"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KRT14","GHR_URL__c":"https://medlineplus.gov/genetics/gene/krt14","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:69087","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001056","HPO_Synonym__c":"Milk spot; Millium cyst","HPO_Name__c":"Milia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69087","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:69087","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006286","HPO_Synonym__c":"Yellow-brown discoloration of the teeth; Yellow-brown discolored teeth; Yellow-brown tooth shade","HPO_Name__c":"Yellow-brown discoloration of the teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69087","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Detachment of the nail from the nail bed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001806","HPO_Synonym__c":"Detachment of nail; Oncholysis","HPO_Name__c":"Onycholysis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69087","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006253","HPO_Synonym__c":"Swelling of innermost hinge joints","HPO_Name__c":"Swelling of proximal interphalangeal joints","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69087","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction of skin color related to a decrease in melanin production and deposition.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001010","HPO_Synonym__c":"Hypopigmentation; Hypopigmented skin; Patchy lightened skin","HPO_Name__c":"Hypopigmentation of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69087","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":"ORPHA:69087","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Chronic loss of joint motion in a finger due to structural changes in non-bony tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012785","HPO_Synonym__c":"Flexion deformity of finger","HPO_Name__c":"Flexion contracture of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69087","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007455","HPO_Name__c":"Adermatoglyphia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69087","HPO_Frequency__c":"Frequent (30-79%)","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:69087","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The inability to maintain a comfortable body temperature in warm or hot weather.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002046","HPO_Synonym__c":"Heat intolerance; Intolerance to heat and fevers","HPO_Name__c":"Heat intolerance","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69087","HPO_Frequency__c":"Frequent (30-79%)","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:69087","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007599","HPO_Name__c":"Generalized reticulate brown pigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69087","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006480","HPO_Synonym__c":"Early tooth loss; Loss of teeth; Premature teeth loss; Premature tooth loss","HPO_Name__c":"Premature loss of teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69087","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of fewer than normal sweat glands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007500","HPO_Synonym__c":"Decreased sweat glands; Decreased sweat pores","HPO_Name__c":"Decreased number of sweat glands","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69087","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001220","HPO_Synonym__c":"Interphalangeal joint flexion contractures","HPO_Name__c":"Interphalangeal joint contracture of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69087","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A thickening of the stratum corneum in the region beneath the nails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008392","HPO_Synonym__c":"Thickened, discolored skin under nail","HPO_Name__c":"Subungual hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69087","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007427","HPO_Name__c":"Reticulated skin pigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69087","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Bullae (defined as fluid-filled blisters more than 5 mm in diameter with thin walls) of the skin with an acral distribution (affecting peripheral regions such as hands and feet).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031045","HPO_Name__c":"Acral blistering","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69087","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of one or more teeth additional to the normal number.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011069","HPO_Synonym__c":"Extra teeth; Hyperdontia; Increased number of teeth; Increased tooth count; Supernumerary teeth; Supplemental dentition; Supplemental teeth; Tooth, supernumerary","HPO_Name__c":"Supernumerary tooth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69087","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:69087","HPO_Frequency__c":"Frequent (30-79%)","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:69087","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007530","HPO_Name__c":"Punctate palmoplantar hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69087","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:69087","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000670","HPO_Synonym__c":"Caries; Cariosity of teeth; Dental caries; Dental cavities; Early dental caries; Frequent caries; Tooth cavities; Tooth decay","HPO_Name__c":"Carious teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69087","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inability to sweat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000970","HPO_Synonym__c":"Anhydrosis; Lack of sweating; Sudomotor dysfunction; Sweating dysfunction","HPO_Name__c":"Anhidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69087","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005586","HPO_Synonym__c":"Hyperpigmentation of exposed areas; Increased pigmentation in sun-exposed areas","HPO_Name__c":"Hyperpigmentation in sun-exposed areas","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69087","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:69087","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":"ORPHA:69087","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the dental enamel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006297","HPO_Synonym__c":"Dental enamel hypoplasia; Enamel hypotrophy; Enamel, underdeveloped; Hypoplasia of dental enamel; Hypoplasia of tooth enamel; Underdeveloped teeth enamel","HPO_Name__c":"Enamel hypoplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology","Ectodermal dysplasia"]},"synonyms":["franceschetti-jadassohn syndrome"," naegeli syndrome"," naegeli's syndrome"," nfj syndrome"," nfjs"]}