{"Name":"Diphallia","DiseaseID__c":"GARD:0001872","id":1872,"encodedName":"diphallia","IsDeleted":false,"Disease_Name_Full__c":"Diphallia","Xref_IDs__c":"253851000; C0345322; MEDGEN:450542; MONDO:0016416; ORPHA:227","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"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":4,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:227","Disease_Description__c":"A rare, non-syndromic, urogenital tract malformation characterized by complete or partial penile duplication, ranging from only glans duplication to the presence of two penis shafts with either one (i.e. bifid phallus) or two (i.e. true diphallia) corpora cavernosum in each. Additional anomalies, such as urethra duplication, an abnormal voiding pattern, hypo- or epispadias, bifid/ectopic scrotum, bladder exstrophy or duplication, are frequently associated, but it may also present as an isolated anomaly. In severe cases, pubic symphysis diastasis, imperforate or duplicated anus, colon/ rectosigmoidal duplication, inguinal hernia and vertebral anomalies may be observed.","GARD_Name__c":"Diphallia","GARD_Synonym__c":"bifid penis; diphallus; penile duplication","Curated_Disease_Description_Source__c":"ORPHA:227","Curated_Disease_Description__c":"A rare, non-syndromic, urogenital tract malformation characterized by complete or partial penile duplication, ranging from only glans duplication to the presence of two penis shafts with either one (i.e. bifid phallus) or two (i.e. true diphallia) corpora cavernosum in each. Additional anomalies, such as urethra duplication, an abnormal voiding pattern, hypo- or epispadias, bifid/ectopic scrotum, bladder exstrophy or duplication, are frequently associated, but it may also present as an isolated anomaly. In severe cases, pubic symphysis diastasis, imperforate or duplicated anus, colon/ rectosigmoidal duplication, inguinal hernia and vertebral anomalies may be observed.","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:227","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016416","ORPHANET_ID__c":"ORPHA:227","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Difalia","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"difalia","Spanish_GARD_Synonym__c":null,"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":"A rare, non-syndromic, urogenital tract malformation characterized by complete or partial penile duplication, ranging from only glans duplication to the presence of two penis shafts with either one (i.e. bifid phallus) or two (i.e. true diphallia) corpora cavernosum in each. Additional anomalies, such as urethra duplication, an abnormal voiding pattern, hypo- or epispadias, bifid/ectopic scrotum, bladder exstrophy or duplication, are frequently associated, but it may also present as an isolated anomaly. In severe cases, pubic symphysis diastasis, imperforate or duplicated anus, colon/ rectosigmoidal duplication, inguinal hernia and vertebral anomalies may be observed.","Curated_Disease_Description_Source__c":"ORPHA:227","GARD_Synonym__c":"bifid penis; diphallus; penile duplication","Name":"Diphallia","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"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":"Neonatal","Provided_By__c":"ORPHA:227"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:227"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/227","Source__c":"C0345322; MONDO:0016416; ORPHA:227","Xref__c":"ORPHA:227"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0345322","Source__c":"C0345322","Xref__c":"C0345322"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=450542","Source__c":"C0345322","Xref__c":"MEDGEN:450542"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=253851000","Source__c":"C0345322; MONDO:0016416","Xref__c":"253851000"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0100599","Source__c":"C0345322","Xref__c":"HP:0100599"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016416","Source__c":"GARD:0001872","Xref__c":"MONDO:0016416"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:227","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003316","HPO_Synonym__c":"Anterior rachischisis; Butterfly vertebrae; Sagittal clefting of vertebrae","HPO_Name__c":"Butterfly vertebrae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:227","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008706","HPO_Name__c":"Distal urethral duplication","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:227","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A spherical hollow structure with a smooth muscle coat, lined by a mucous membrane, and attached to any part of the gastrointestinal tract, from the base of the tongue to the anus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011140","HPO_Synonym__c":"GI duplication","HPO_Name__c":"Gastrointestinal duplication","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:227","HPO_Frequency__c":"Very frequent (80-99%)","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:227","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:227","HPO_Frequency__c":"Occasional (5-29%)","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:227","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000047","HPO_Synonym__c":"Hypospadia","HPO_Name__c":"Hypospadias","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:227","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (pubis, ilium, ischium) of the hip bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003172","HPO_Synonym__c":"Abnormality of the pubic bone; Abnormality of the pubic bones; Abnormality of the pubis","HPO_Name__c":"Abnormal pubic bone morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:227","HPO_Frequency__c":"Occasional (5-29%)","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:227","HPO_Frequency__c":"Occasional (5-29%)","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:227","HPO_Frequency__c":"Very frequent (80-99%)","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:227","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of a fistula between the perineum and the rectum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004792","HPO_Name__c":"Rectoperineal fistula","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:227","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004712","HPO_Synonym__c":"Abnormal rotation of the kidneys; Malrotation of the kidney","HPO_Name__c":"Renal malrotation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:227","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of any abnormality of the genitourinary system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000119","HPO_Synonym__c":"Abnormality of the GU system; Genitourinary abnormality; Genitourinary tract anomalies; Genitourinary tract malformation; Urogenital abnormalities; Urogenital anomalies","HPO_Name__c":"Abnormality of the genitourinary system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:227","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Scrotum in a position other than the usual position inferior to the base of the penis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030275","HPO_Synonym__c":"Abnormal scrotum position","HPO_Name__c":"Ectopic scrotum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:227","HPO_Frequency__c":"Frequent (30-79%)","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:227","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000073","HPO_Synonym__c":"Double ureter","HPO_Name__c":"Ureteral duplication","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:227","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:227","HPO_Frequency__c":"Occasional (5-29%)","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:227","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005223","HPO_Name__c":"Duplicated colon","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:227","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009777","HPO_Synonym__c":"Absent thumb; Absent thumbs; Aplasia of the thumb; Thumb aplasia","HPO_Name__c":"Absent thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:227","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Incomplete maturation or aberrant formation of the male gametes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008669","HPO_Synonym__c":"Impaired spermatogenesis","HPO_Name__c":"Abnormal spermatogenesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:227","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:227","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Absence of one half of the vertebral body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002937","HPO_Synonym__c":"Hemi-vertebrae; Hemivertebra; Missing part of vertebrae","HPO_Name__c":"Hemivertebrae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:227","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:227","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:227","HPO_Frequency__c":"Frequent (30-79%)","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:227","HPO_Frequency__c":"Occasional (5-29%)","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:227","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001631","HPO_Synonym__c":"An opening in the wall separating the top two chambers of the heart; ASD; Atria septal defect; Atrial septum defect; Atrioseptal defect; Defect in the atrial septum; Hole in heart wall separating two upper heart chambers","HPO_Name__c":"Atrial septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Congenital Abnormality","Urogenital Disorders"],"Specialist":["Urologist","Pediatrics"]},"synonyms":["bifid penis"," diphallus"," penile duplication"]}