{"Name":"Thomas syndrome","DiseaseID__c":"GARD:0005175","id":5175,"encodedName":"thomas-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Thomas syndrome","Xref_IDs__c":"716740009; C2931225; C536514; MEDGEN:419362; MONDO:0018043; ORPHA:3316","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0018043","Disease_Description__c":"Thomas syndrome is characterised by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive.","GARD_Name__c":"Thomas syndrome","GARD_Synonym__c":"potter sequence cleft lip and palate cardiopathy syndrome; potter sequence-cleft lip/palate-cardiopathy syndrome","Curated_Disease_Description_Source__c":"MONDO:0018043","Curated_Disease_Description__c":"Thomas syndrome is characterised by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:3316","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018043","ORPHANET_ID__c":"ORPHA:3316","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de thomas","Spanish_Description_Source__c":"ORPHA:3316","Spanish_Description__c":"Es un síndrome caracterizado por anomalías renales, malformaciones cardíacas y fisura labial o palatina. Se ha descrito en seis pacientes y se ha sugerido que sigue un patrón de herencia autosómico recesivo.","Spanish_Disease_Name__c":"síndrome de thomas","Spanish_GARD_Synonym__c":"secuencia de potter-fisura-cardiopatía","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":"Thomas syndrome is characterised by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive.","Curated_Disease_Description_Source__c":"MONDO:0018043","GARD_Synonym__c":"potter sequence cleft lip and palate cardiopathy syndrome; potter sequence-cleft lip/palate-cardiopathy syndrome","Name":"Thomas syndrome","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":"Cardiology","Tag_Category__c":"Specialist"},{"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":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Craniofacial Anomalies","Tag_Category__c":"Account","curated_tag_name":"Craniofacial anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:3316"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:3316"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931225","Source__c":"C2931225","Xref__c":"C2931225"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419362","Source__c":"C2931225","Xref__c":"MEDGEN:419362"},{"URL__c":"https://www.orpha.net/en/disease/detail/3316","Source__c":"C2931225; MONDO:0018043; ORPHA:3316","Xref__c":"ORPHA:3316"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536514","Source__c":"MONDO:0018043","Xref__c":"C536514"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=716740009","Source__c":"C2931225; MONDO:0018043","Xref__c":"716740009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018043","Source__c":"GARD:0005175","Xref__c":"MONDO:0018043"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3316","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The palpebral fissure inclination is more than two standard deviations below the mean.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000494","HPO_Synonym__c":"Antimongoloid eye slant; Antimongoloid slant of palpebral fissures; Antimongoloid slanted palpebral fissures; Down slanting palpebral fissures; Down-slanted palpebral fissures; Down-slanting palpebral fissure; Down-slanting palpebral fissures; Downslanting palpebral fissure; Downslanting palpebral fissures; Downward slanted palpebral fissures; Downward slanting of the opening between the eyelids; Downward slanting palpebral fissures; Downward-slanting palpebral fissures; Palpebral fissures down-slanted","HPO_Name__c":"Downslanted palpebral fissures","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3316","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000268","HPO_Synonym__c":"Long, narrow head; Tall and narrow skull","HPO_Name__c":"Dolichocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3316","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000175","HPO_Synonym__c":"Cleft hard and soft palate; Cleft of hard and soft palate; Cleft of palate; Cleft palate; Cleft roof of mouth; Palatoschisis; Uranostaphyloschisis","HPO_Name__c":"Cleft palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3316","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000003","HPO_Synonym__c":"Multicystic dysplastic kidney; Multicystic kidneys; Multicystic renal dysplasia","HPO_Name__c":"Multicystic kidney dysplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3316","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000316","HPO_Synonym__c":"Excessive orbital separation; Increased distance between eye sockets; Increased distance between eyes; Increased interpupillary distance; Ocular hypertelorism; Wide-set eyes; Widely spaced eyes; Widened interpupillary distance","HPO_Name__c":"Hypertelorism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3316","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000204","HPO_Synonym__c":"Cheiloschisis of upper lip; Cleft upper lip; Harelip","HPO_Name__c":"Cleft upper lip","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3316","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally increased height of the forehead.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000348","HPO_Synonym__c":"High forehead","HPO_Name__c":"High forehead","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3316","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Diminished amniotic fluid volume in pregnancy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001562","HPO_Synonym__c":"Low levels of amniotic fluid; Maternal oligohydramnios","HPO_Name__c":"Oligohydramnios","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3316","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the heart and blood vessels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030680","HPO_Synonym__c":"Abnormality of cardiovascular system morphology; Cardiovascular malformations","HPO_Name__c":"Abnormal cardiovascular system morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3316","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008678","HPO_Synonym__c":"Absent/small kidney; Absent/underdeveloped kidney; Renal agenesis/hypoplasia; Renal aplasia/hypoplasia","HPO_Name__c":"Renal hypoplasia/aplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3316","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A severe congenital heart defect characterized by underdevelopment of the left ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004383","HPO_Synonym__c":"Heart left ventricle hypoplasia; Left ventricular hypoplasia; Underdeveloped left heart","HPO_Name__c":"Hypoplastic left ventricle","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Congenital Abnormality"],"Specialist":["Genetics","Cardiology","Nephrology","Otolaryngology","Pediatrics"],"Account":["Nephrology","Craniofacial Anomalies"]},"synonyms":["potter sequence cleft lip and palate cardiopathy syndrome"," potter sequence-cleft lip/palate-cardiopathy syndrome"]}