{"Name":"Exstrophy-epispadias complex","DiseaseID__c":"GARD:0002207","id":2207,"encodedName":"exstrophy-epispadias-complex","IsDeleted":false,"Disease_Name_Full__c":"Exstrophy-epispadias complex","Xref_IDs__c":"C1850321; C99142; DOID:0080173; MEDGEN:338020; MONDO:0017919; ORPHA:322","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0017919","Disease_Description__c":"Exstrophy-Epispadias Complex (EEC) represents a spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form (see these terms). Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus.","GARD_Name__c":"Exstrophy-epispadias complex","GARD_Synonym__c":"beec; eec; oeis complex; oeis syndrome; omphalocele-exstrophy-imperforate anus-spinal defects","Curated_Disease_Description_Source__c":"GARD:0002207","Curated_Disease_Description__c":"Exstrophy-epispadias complex (EEC) refers to a spectrum of birth defects that includes epispadias, classical bladder exstrophy, and exstrophy of the cloaca and several variants. EEC is characterized by a visible defect of the lower abdominal wall and other problems. In normal development, the cloacal membrane temporarily separates the cloaca (final part of the intestine) into urogenital and anal regions, and it ruptures after fusing with a structure known as the urogenital septum, which is made up of the tissue that will form the abdominal muscles (mesoderm). If the cloacal membrane does not fuse correctly with the urogenital septum, it does not form the mesoderm and, as a result, the abdominal muscles do not form. The exact timing of the rupture determines whether the child is born with isolated epispadias, classic bladder exstrophy, or cloacal exstrophy. Depending on severity, EEC may involve the urinary system, musculoskeletal system, pelvis, pelvic floor, abdominal wall, genitalia, and sometimes the spine and anus. There is no known cause for EEC. The University of Michigan has a webpage about the development of the embryo and its parts, including the formation of the cloaca.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:322","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017919","ORPHANET_ID__c":"ORPHA:322","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Complejo extrofia-epispadias","Spanish_Description_Source__c":"ORPHA:322","Spanish_Description__c":"El complejo extrofia-epispadias (CEE) representa un espectro de malformaciones genitourinarias con diferentes grados de gravedad, que incluye desde el epispadias (E) y la extrofia vesical clásica (EVC) hasta la extrofia de cloaca (EC), que es la forma más grave (consulte los términos). Dependiendo de la severidad, el CEE puede afectar al sistema urinario, aparato locomotor, pelvis, suelo pélvico, pared abdominal, genitales y, en ocasiones, a la columna vertebral y al ano.","Spanish_Disease_Name__c":"complejo extrofia-epispadias","Spanish_GARD_Synonym__c":"complejo extrofia vesical-epispadias-extrofia cloacal","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":"Exstrophy-epispadias complex (EEC) refers to a spectrum of birth defects that includes epispadias, classical bladder exstrophy, and exstrophy of the cloaca and several variants. EEC is characterized by a visible defect of the lower abdominal wall and other problems. In normal development, the cloacal membrane temporarily separates the cloaca (final part of the intestine) into urogenital and anal regions, and it ruptures after fusing with a structure known as the urogenital septum, which is made up of the tissue that will form the abdominal muscles (mesoderm). If the cloacal membrane does not fuse correctly with the urogenital septum, it does not form the mesoderm and, as a result, the abdominal muscles do not form. The exact timing of the rupture determines whether the child is born with isolated epispadias, classic bladder exstrophy, or cloacal exstrophy. Depending on severity, EEC may involve the urinary system, musculoskeletal system, pelvis, pelvic floor, abdominal wall, genitalia, and sometimes the spine and anus. There is no known cause for EEC. The University of Michigan has a webpage about the development of the embryo and its parts, including the formation of the cloaca.","Curated_Disease_Description_Source__c":"GARD:0002207","GARD_Synonym__c":"beec; eec; oeis complex; oeis syndrome; omphalocele-exstrophy-imperforate anus-spinal defects","Name":"Exstrophy-epispadias complex","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Asociación de Personas y Familias Afectadas de Extrofia Vesical, Cloacal, Epispadias y Patologías Afines","Website__c":"https://www.extrofia.info/asafex/"},{"Account_Name__c":"Asociación Española de Extrofia Vesical","Website__c":"http://www.asexve.es/"},{"Account_Name__c":"Association for the Bladder Exstrophy Community","Website__c":"https://www.bladderexstrophy.com"}],"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":"Urogenital Disorders","Tag_Category__c":"Disease Category","category_description":"Urinary and reproductive diseases affect the kidneys, ureters, bladder, urethra, or the reproductive organs.","curated_tag_name":"Urinary and reproductive diseases"},{"Tag_Name__c":"Urologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:322"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:322"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0005689"},{"Type__c":"GTR","Curie__c":"MEDGEN:C1838703"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1850321","Source__c":"C1850321","Xref__c":"C1850321"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080173","Source__c":"MONDO:0017919","Xref__c":"DOID:0080173"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=338020","Source__c":"C1850321","Xref__c":"MEDGEN:338020"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C99142","Source__c":"C1850321; MONDO:0017919","Xref__c":"C99142"},{"URL__c":"https://www.orpha.net/en/disease/detail/322","Source__c":"C1850321; MONDO:0017919","Xref__c":"ORPHA:322"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017919","Source__c":"GARD:0002207","Xref__c":"MONDO:0017919"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C000099061","Source__c":"C1850321","Xref__c":"D000099061"}],"Inheritance__c":["Non-Mendelian inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:322","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of any abnormality affecting the abdominal wall.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004298","HPO_Synonym__c":"Abnormality of external features of the abdomen; Abnormality of the abdominal wall","HPO_Name__c":"Abnormal abdominal wall morphology","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:322","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:322","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000076","HPO_Synonym__c":"Ureteral reflux; Ureteric reflux; Vesico-ureteral reflux; Vesicoureteric reflux; VUR","HPO_Name__c":"Vesicoureteral reflux","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:322","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000085","HPO_Synonym__c":"Horseshoe kidney; Horseshoe kidneys","HPO_Name__c":"Horseshoe kidney","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:322","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002023","HPO_Synonym__c":"Absent anus","HPO_Name__c":"Anal atresia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:322","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000238","HPO_Synonym__c":"Hydrocephaly; Nonsyndromal hydrocephalus; Too much cerebrospinal fluid in the brain","HPO_Name__c":"Hydrocephalus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:322","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Cloacal exstrophy is a severe anterior abdominal wall defect in which the two hemibladders are visible and are separated by a midline intestinal plate, an omphalocele, and an imperforate anus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010475","HPO_Name__c":"Cloacal exstrophy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:322","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002414","HPO_Name__c":"Spina bifida","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:322","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the heart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001627","HPO_Synonym__c":"Abnormality of cardiac morphology; Abnormality of the heart; Abnormally shaped heart; Cardiac abnormality; Cardiac anomalies; Cardiac anomaly; Congenital heart defect; Congenital heart defects; Heart defect","HPO_Name__c":"Abnormal heart morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:322","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Two penile structures, separated from the tip to the base of the shaft.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100599","HPO_Synonym__c":"Diphallia; Penile duplication","HPO_Name__c":"Bifid penis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:322","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A congenital anomaly characterized by the presence of two bladders.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025489","HPO_Name__c":"Bladder duplication","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:322","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A problem occurring during any phase of the male sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040307","HPO_Name__c":"Male sexual dysfunction","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:322","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the form, structure, or size of the skeletal system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011842","HPO_Synonym__c":"Abnormality of skeletal morphology; Abnormally shaped skeletal","HPO_Name__c":"Abnormal skeletal morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:322","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002836","HPO_Synonym__c":"Ectopia vesicae","HPO_Name__c":"Bladder exstrophy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:322","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A partial or complete positional exchange between the penis and the scrotum, with positioning of the scrotum superior to the penis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100600","HPO_Synonym__c":"Prepenile scrotum","HPO_Name__c":"Penoscrotal transposition","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:322","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Epispadias is a urogenital malformation characterized by the failure of the urethral tube to tubularize on the dorsal aspect. Unlike in hypospadias, where the meatus is on the ventral aspect, children with epispadias have a wide-open urethral plate on the dorsum. It is commonly seen as a component in the spectrum of bladder exstrophy-epispadias-complex. Isolated epispadias constitutes less than 10 percent of the total cases of epispadias.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000039","HPO_Name__c":"Epispadias","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:322","HPO_Frequency__c":"Occasional (5-29%)","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:322","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Loss of the ability to control the urinary bladder leading to involuntary urination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000020","HPO_Synonym__c":"Bladder incontinence; Loss of bladder control","HPO_Name__c":"Urinary incontinence","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:322","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001539","HPO_Synonym__c":"Exomphalos; Omphalocoele","HPO_Name__c":"Omphalocele","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:322","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An incomplete closure of the abdominal wall.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010866","HPO_Synonym__c":"Abdominal wall defect; Congenital anterior abdominal wall defect","HPO_Name__c":"Abdominal wall defect","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:322","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A problem occurring during any phase of the female sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030014","HPO_Name__c":"Female sexual dysfunction","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:322","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001367","HPO_Synonym__c":"Abnormal shape of joints; Abnormality of the joints; Anomaly of the joints","HPO_Name__c":"Abnormal joint morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:322","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormality of the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000271","HPO_Synonym__c":"Abnormal face; Abnormality of the face; Facial abnormality","HPO_Name__c":"Abnormality of the face","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:322","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000315","HPO_Synonym__c":"Abnormality of the eye region; Abnormality of the region around the eyes","HPO_Name__c":"Abnormality of the orbital region","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:322","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000028","HPO_Synonym__c":"Cryptorchism; Undescended testes; Undescended testis","HPO_Name__c":"Cryptorchidism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:322","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Lack of recognizable penile structures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030261","HPO_Synonym__c":"Absent penis; Aphallia; Aplasia of the penis; Penis aplasia","HPO_Name__c":"Absent penis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:322","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a fistula connecting the urinary bladder to another organ or the skin. The fistula can involve the bowel, the vagina, or rarely, the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004321","HPO_Name__c":"Bladder fistula","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:322","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000077","HPO_Synonym__c":"Abnormal kidney; Abnormality of the kidney; Renal anomalies; Renal anomaly","HPO_Name__c":"Abnormality of the kidney","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:322","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000075","HPO_Synonym__c":"Duplex kidney; Duplicated kidney; Extra kidney","HPO_Name__c":"Renal duplication","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:322","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Abnormal narrowing of the anal opening.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002025","HPO_Synonym__c":"Narrowing of anal opening","HPO_Name__c":"Anal stenosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:322","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of developmental dysplasia of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000110","HPO_Synonym__c":"Dysplastic kidneys; Renal adysplasia","HPO_Name__c":"Renal dysplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:322","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Midline indentation or cleft of the scrotum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000048","HPO_Synonym__c":"Cleft of scrotum; Scrotal cleft","HPO_Name__c":"Bifid scrotum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:322","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a bifid uterus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000136","HPO_Name__c":"Bifid uterus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:322","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Anterior vaginal wall prolapse with bulging of the bladder into the vagina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100645","HPO_Synonym__c":"Bladder hernia; Bladder prolapse; Dropped bladder; Prolapsed bladder","HPO_Name__c":"Cystocele","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:322","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Protrusion of the contents of the abdominal cavity through the inguinal canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000023","HPO_Name__c":"Inguinal hernia","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:322","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypoplasia of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000089","HPO_Synonym__c":"Hypoplastic kidney; Hypoplastic kidneys; Small kidneys; Underdeveloped kidneys","HPO_Name__c":"Renal hypoplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:322","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012443","HPO_Synonym__c":"Abnormal shape of brain; Abnormality of brain morphology; Abnormality of the brain","HPO_Name__c":"Abnormal brain morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:322","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011024","HPO_Synonym__c":"Abnormality of the gastrointestinal tract; Abnormality of the GI tract","HPO_Name__c":"Abnormality of the gastrointestinal tract","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:322","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000069","HPO_Synonym__c":"Abnormality of the ureters; Ureter issue; Ureteral anomalies","HPO_Name__c":"Abnormality of the ureter","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:322","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An anomaly of the forehead.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000290","HPO_Synonym__c":"Abnormality of the forehead; Abnormality of the frontal region of the face","HPO_Name__c":"Abnormal forehead morphology","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Nephrology","Urologist","Pediatrics"],"Account":["Nephrology"]},"synonyms":["beec"," eec"," oeis complex"," oeis syndrome"," omphalocele-exstrophy-imperforate anus-spinal defects"],"spanishId":13333,"spanishName":"complejo-extrofia-epispadias"}