{"Name":"Amelogenesis imperfecta type 1G","DiseaseID__c":"GARD:0000646","id":646,"encodedName":"amelogenesis-imperfecta-type-1g","IsDeleted":false,"Disease_Name_Full__c":"Amelogenesis imperfecta type 1G","Xref_IDs__c":"109477002; C2931783; C538241; DOID:0110066; MEDGEN:419162; MONDO:0008771; OMIM:204690; ORPHA:1031","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":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008771","Disease_Description__c":"A extremely rare, genetic malformation syndrome characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function, recurrent urinary infections, renal tubular acidosis, and rarely to end-stage renal failure.","GARD_Name__c":"Amelogenesis imperfecta type 1G","GARD_Synonym__c":"absent enamel, nephrocalcinosis and apparently normal calcium metabolism; ai1g; aigfs; amelogenesis imperfecta and gingival fibromatosis syndrome; amelogenesis imperfecta and nephrocalcinosis; amelogenesis imperfecta caused by mutation in fam20a; amelogenesis imperfecta hypoplastic type, ig; amelogenesis imperfecta hypoplastic with nephrocalcinosis; amelogenesis imperfecta nephrocalcinosis; amelogenesis imperfecta type ig; amelogenesis imperfecta-gingival hyperplasia syndrome; amelogenesis imperfecta-nephrocalcinosis syndrome; amelogenesis imperfecta, hypoplastic, and nephrocalcinosis; amelogenesis imperfecta, hypoplastic, with nephrocalcinosis; amelogenesis imperfecta, nephrocalcinosis and impaired renal concentration; amelogenesis imperfecta, type ig; amelogenesis imperfecta, type ig (enamel-renal syndrome); enamel renal syndrome; enamel-renal syndrome; enamel-renal-gingival syndrome; ers; fam20a amelogenesis imperfecta; generalized enamel hypoplasia and renal dysfunction; mcgibbon lubinsky syndrome","Curated_Disease_Description_Source__c":"MONDO:0008771","Curated_Disease_Description__c":"A extremely rare, genetic malformation syndrome characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function, recurrent urinary infections, renal tubular acidosis, and rarely to end-stage renal failure.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:1031","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008771","ORPHANET_ID__c":"ORPHA:1031","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome esmalte-renal","Spanish_Description_Source__c":"ORPHA:1031","Spanish_Description__c":"Es un síndrome malformativo de origen genético y extremadamente infrecuente caracterizado por amelogénesis imperfecta hipoplásica (hipoplasia del esmalte dental) y nefrocalcinosis (precipitación de sales de calcio en el tejido renal). Las manifestaciones orales incluyen dientes amarillentos y malformados, erupción dental tardía y calcificaciones intrapulpares. A menudo, la nefrocalcinosis es asintomática, aunque puede evolucionar durante la infancia tardía o la edad adulta temprana a una alteración de la función renal, infecciones urinarias recurrentes, acidosis tubular renal y, ocasionalmente, a insuficiencia renal terminal.","Spanish_Disease_Name__c":"síndrome esmalte-renal","Spanish_GARD_Synonym__c":"síndrome de amelogénesis imperfecta-nefrocalcinosis","Category_Linearization__c":"ORPHA:93626","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 extremely rare, genetic malformation syndrome characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function, recurrent urinary infections, renal tubular acidosis, and rarely to end-stage renal failure.","Curated_Disease_Description_Source__c":"MONDO:0008771","GARD_Synonym__c":"absent enamel, nephrocalcinosis and apparently normal calcium metabolism; ai1g; aigfs; amelogenesis imperfecta and gingival fibromatosis syndrome; amelogenesis imperfecta and nephrocalcinosis; amelogenesis imperfecta caused by mutation in fam20a; amelogenesis imperfecta hypoplastic type, ig; amelogenesis imperfecta hypoplastic with nephrocalcinosis; amelogenesis imperfecta nephrocalcinosis; amelogenesis imperfecta type ig; amelogenesis imperfecta-gingival hyperplasia syndrome; amelogenesis imperfecta-nephrocalcinosis syndrome; amelogenesis imperfecta, hypoplastic, and nephrocalcinosis; amelogenesis imperfecta, hypoplastic, with nephrocalcinosis; amelogenesis imperfecta, nephrocalcinosis and impaired renal concentration; amelogenesis imperfecta, type ig; amelogenesis imperfecta, type ig (enamel-renal syndrome); enamel renal syndrome; enamel-renal syndrome; enamel-renal-gingival syndrome; ers; fam20a amelogenesis imperfecta; generalized enamel hypoplasia and renal dysfunction; mcgibbon lubinsky syndrome","Name":"Amelogenesis imperfecta type 1G","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney 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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:1031"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2931783"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000646","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931783","Source__c":"C2931783","Xref__c":"C2931783"},{"URL__c":"https://www.omim.org/entry/204690","Source__c":"C2931783; MONDO:0008771; ORPHA:1031","Xref__c":"OMIM:204690"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538241","Source__c":"MONDO:0008771","Xref__c":"C538241"},{"URL__c":"https://www.orpha.net/en/disease/detail/1031","Source__c":"C2931783; MONDO:0008771; ORPHA:1031","Xref__c":"ORPHA:1031"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=109477002","Source__c":"C2931783; MONDO:0008771","Xref__c":"109477002"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419162","Source__c":"C2931783","Xref__c":"MEDGEN:419162"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110066","Source__c":"MONDO:0008771","Xref__c":"DOID:0110066"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008771","Source__c":"GARD:0000646","Xref__c":"MONDO:0008771"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FAM20A","GHR_URL__c":"https://medlineplus.gov/genetics/gene/fam20a","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1031","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000212","HPO_Synonym__c":"Gingival enlargement; Gingival hyperplasia; Gum enlargement; Gum hypertrophy; Hypertrophic gingivitis","HPO_Name__c":"Gingival overgrowth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1031","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000684","HPO_Synonym__c":"Delayed dental development; Delayed dental eruption; Delayed eruption; Delayed eruption of teeth; Delayed teeth eruption; Delayed tooth eruption; Eruption, delayed; Late eruption of teeth; Late tooth eruption","HPO_Name__c":"Delayed eruption of teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1031","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An elevated level of osteocalcin in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031428","HPO_Name__c":"Increased circulating osteocalcin level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1031","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally decreased phosphate concentration in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012365","HPO_Synonym__c":"Low urine phosphate levels","HPO_Name__c":"Hypophosphaturia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:1031","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A nonspecific term referring to disease or damage of the kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000112","HPO_Name__c":"Nephropathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1031","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the dental enamel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000682","HPO_Synonym__c":"Abnormal tooth enamel; Abnormality of dental enamel; Enamel abnormalities; Enamel abnormality","HPO_Name__c":"Abnormal dental enamel morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1031","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally decreased calcium concentration in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003127","HPO_Synonym__c":"Low urine calcium levels","HPO_Name__c":"Hypocalciuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:1031","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal concentration in the blood circulation of a hormone that is involved in the regulation of phosphate and calcium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100530","HPO_Synonym__c":"Abnormal Ca-PHOS regulating hormone level; Abnormal Ca2+ PO4 regulating hormone level","HPO_Name__c":"Abnormal circulating calcium-phosphate regulating hormone concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:1031","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000805","HPO_Name__c":"Enuresis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1031","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000083","HPO_Synonym__c":"Renal failure; Renal failure in adulthood","HPO_Name__c":"Renal insufficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1031","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A developmental defect of tooth color.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011073","HPO_Synonym__c":"Abnormality of dental color; Abnormality of dental shade; Abnormality of tooth color; Abnormality of tooth shade","HPO_Name__c":"Abnormality of dental color","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1031","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000121","HPO_Synonym__c":"Too much calcium deposited in kidneys","HPO_Name__c":"Nephrocalcinosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1031","HPO_Frequency__c":"Very frequent (80-99%)","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:1031","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A defect in the ability to concentrate the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004727","HPO_Synonym__c":"Urine concentrating defect; Urine concentration defect","HPO_Name__c":"Impaired renal concentrating ability","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1031","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A developmental dysplasia of the dental enamel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000705","HPO_Name__c":"Amelogenesis imperfecta","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1031","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased length and width of the tongue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000158","HPO_Synonym__c":"Abnormally large tongue; Hyperplasia of the tongue; Hypertrophy of the tongue; Increased size of tongue; Large tongue; Tongue hypertrophy","HPO_Name__c":"Macroglossia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1031","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased serum levels of alkaline phosphatase activity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003155","HPO_Synonym__c":"Elevated alkaline phosphatase; Elevated ALP; Greatly elevated alkaline phosphatase; High serum alkaline phosphatase; Hyperphosphatasemia; Hyperphosphatasia; Increased alkaline phosphatase; Increased serum alkaline phosphatase","HPO_Name__c":"Elevated circulating alkaline phosphatase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:1031","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A lower than normal concentration of citrate(3-) in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012405","HPO_Synonym__c":"Decreased urine citrate concentration","HPO_Name__c":"Hypocitraturia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:1031","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pulp calcifications may appear as punctate calcifications, irregular, roughly spherical mineralized masses in any part of the pulp. It may occur isolated or associated to calcifications elsewhere such as the carotid arteries and kidneys. The diagnosis pulp calcifications can be established using radiological studies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003771","HPO_Synonym__c":"Pulp calcifications; Pulp denticles; Pulp stones; Pulpoliths","HPO_Name__c":"Pulp calcification","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1031","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A tooth that has not erupted because of local impediments (overcrowding or fibrous gum overgrowth).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011079","HPO_Synonym__c":"Impacted tooth; Retained tooth","HPO_Name__c":"Impacted tooth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1031","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the periodontium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000704","HPO_Synonym__c":"Pyorrhea","HPO_Name__c":"Periodontitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1031","HPO_Frequency__c":"Uncommon (<1-4%)","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:1031","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of fibrosis of the gingiva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000169","HPO_Synonym__c":"Gingival fibroma; Gingival fibrous nodules","HPO_Name__c":"Gingival fibromatosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1031","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Anterior open bite is a malocclusion characterized by a gap between the anterior teeth (incisors), that is, by a deficiency in the normal vertical overlap between antagonist incisal edges when the posterior teeth are in occlusion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009102","HPO_Synonym__c":"Absence of overlap of anterior upper and lower teeth; Anterior open bite; Anterior open bite between upper and lower teeth; Anterior openbite; AOB; Apertognathia malocclusion; Gap between upper and lower front teeth when biting","HPO_Name__c":"Anterior open-bite malocclusion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1031","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The absence of one or more teeth from the normal series by a failure to develop","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009804","HPO_Synonym__c":"Decreased tooth count; Dental agenesis; Failure of development of some teeth; Reduced number of teeth; Teeth, agenesis","HPO_Name__c":"Tooth agenesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1031","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally reduced amount of creatinine in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012101","HPO_Synonym__c":"Decreased serum creatinine; Low blood creatinine level; Reduced creatinine levels","HPO_Name__c":"Decreased serum creatinine","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Congenital Abnormality"],"Specialist":["Genetics","Nephrology","Odontology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["absent enamel, nephrocalcinosis and apparently normal calcium metabolism"," ai1g"," aigfs"," amelogenesis imperfecta and gingival fibromatosis syndrome"," amelogenesis imperfecta and nephrocalcinosis"," amelogenesis imperfecta caused by mutation in fam20a"," amelogenesis imperfecta hypoplastic type, ig"," amelogenesis imperfecta hypoplastic with nephrocalcinosis"," amelogenesis imperfecta nephrocalcinosis"," amelogenesis imperfecta type ig"," amelogenesis imperfecta-gingival hyperplasia syndrome"," amelogenesis imperfecta-nephrocalcinosis syndrome"," amelogenesis imperfecta, hypoplastic, and nephrocalcinosis"," amelogenesis imperfecta, hypoplastic, with nephrocalcinosis"," amelogenesis imperfecta, nephrocalcinosis and impaired renal concentration"," amelogenesis imperfecta, type ig"," amelogenesis imperfecta, type ig (enamel-renal syndrome)"," enamel renal syndrome"," enamel-renal syndrome"," enamel-renal-gingival syndrome"," ers"," fam20a amelogenesis imperfecta"," generalized enamel hypoplasia and renal dysfunction"," mcgibbon lubinsky syndrome"]}