{"Name":"Penoscrotal transposition","DiseaseID__c":"GARD:0004273","id":4273,"encodedName":"penoscrotal-transposition","IsDeleted":false,"Disease_Name_Full__c":"Penoscrotal transposition","Xref_IDs__c":"312005008; C1868854; C536650; C99010; HP:0100600; MEDGEN:357036; MONDO:0017285; ORPHA:2842","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0017285","Disease_Description__c":"A rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases).","GARD_Name__c":"Penoscrotal transposition","GARD_Synonym__c":"congenital penoscrotal transposition; congenital transposition of the penis; penoscrotal transposition (disease); prepenile scrotum","Curated_Disease_Description_Source__c":"MONDO:0017285","Curated_Disease_Description__c":"A rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:2842","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017285","ORPHANET_ID__c":"ORPHA:2842","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Transposición penoescrotal","Spanish_Description_Source__c":"ORPHA:2842","Spanish_Description__c":"Es una anomalía genital congénita poco frecuente en la que el escroto se sitúa en posición superior y anterior al pene. La PST puede presentar un amplio espectro de anomalías que van desde un simple escroto en chal hasta una transposición extrema muy compleja con malformaciones craneofaciales, del sistema nervioso central, cardíacas, gastrointestinales, urológicas y de otros órganos genitales (testículos no descendidos, hipospadias, encordamiento). También pueden observarse deficiencias de crecimiento y discapacidad intelectual (60% de los casos).","Spanish_Disease_Name__c":"transposición penoescrotal","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 congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases).","Curated_Disease_Description_Source__c":"MONDO:0017285","GARD_Synonym__c":"congenital penoscrotal transposition; congenital transposition of the penis; penoscrotal transposition (disease); prepenile scrotum","Name":"Penoscrotal transposition","estimateUsa":""}],"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":"Infancy","Provided_By__c":"ORPHA:2842"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2842"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C99010","Source__c":"C1868854; MONDO:0017285","Xref__c":"C99010"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=312005008","Source__c":"C1868854; MONDO:0017285","Xref__c":"312005008"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1868854","Source__c":"C1868854","Xref__c":"C1868854"},{"URL__c":"https://www.orpha.net/en/disease/detail/2842","Source__c":"C1868854; MONDO:0017285; ORPHA:2842","Xref__c":"ORPHA:2842"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536650","Source__c":"MONDO:0017285","Xref__c":"C536650"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=357036","Source__c":"C1868854","Xref__c":"MEDGEN:357036"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0100600","Source__c":"C1868854","Xref__c":"HP:0100600"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017285","Source__c":"GARD:0004273","Xref__c":"MONDO:0017285"}],"Inheritance__c":["X-linked recessive","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2842","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence of the patella.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006443","HPO_Synonym__c":"Absent kneecap; Absent patella; Absent patellae; Absent patellas; Aplastic patellae","HPO_Name__c":"Patellar aplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2842","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000768","HPO_Synonym__c":"Pigeon chest","HPO_Name__c":"Pectus carinatum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2842","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased convexity of the occiput (posterior part of the skull).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000269","HPO_Synonym__c":"Prominent back of the skull; Prominent posterior cranium; Prominent posterior skull; Protruding occiput","HPO_Name__c":"Prominent occiput","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2842","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001638","HPO_Synonym__c":"Disease of the heart muscle","HPO_Name__c":"Cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2842","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007598","HPO_Name__c":"Bilateral single transverse palmar creases","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2842","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A structural anomaly of the external genitalia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000811","HPO_Synonym__c":"Abnormal external genitalia","HPO_Name__c":"Abnormal external genitalia morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2842","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000347","HPO_Synonym__c":"Decreased size of lower jaw; Decreased size of mandible; Hypoplasia of lower jaw; Hypoplasia of mandible; Hypoplastic mandible; Hypoplastic mandible condyle; Hypotrophic lower jaw; Hypotrophic mandible; Little lower jaw; Little mandible; Lower jaw deficiency; Lower jaw hypoplasia; Mandibular deficiency; Mandibular hypoplasia; Mandibular micrognathia; Micrognathia of lower jaw; Micromandible; Robin mandible; Severe hypoplasia of mandible; Small jaw; Small lower jaw; Small mandible; Underdevelopment of lower jaw; Underdevelopment of mandible","HPO_Name__c":"Micrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2842","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004209","HPO_Synonym__c":"Bilateral fifth digit clinodactyly; Bilateral fifth finger clinodactyly; Clinodactyly of fifth digit; Clinodactyly of the little finger; Fifth finger clinodactyly; Permanent curving of the pinkie finger","HPO_Name__c":"Clinodactyly of the 5th finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2842","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the genital system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000078","HPO_Synonym__c":"Genital abnormalities; Genital abnormality; Genital anomalies; Genital defects","HPO_Name__c":"Abnormality of the genital system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2842","HPO_Frequency__c":"Very frequent (80-99%)","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:2842","HPO_Frequency__c":"Very frequent (80-99%)","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:2842","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A persistent midline depression of the skin over the fat pad of the chin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010751","HPO_Synonym__c":"Chin butt; Chin dent; Chin dimple; Chin skin dimple; Dimple chin; Gelasin of chin; Indentation of chin","HPO_Name__c":"Dimple chin","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2842","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Superior margin of the scrotum superior to the base of the penis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000049","HPO_Synonym__c":"Overriding scrotum; Scrotum surrounds penis","HPO_Name__c":"Shawl scrotum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2842","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A larger than usual distance between the left and right nipple.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006610","HPO_Synonym__c":"Wide-spaced nipples; Widely spaced nipples; Widely-spaced nipples","HPO_Name__c":"Wide intermamillary distance","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2842","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000286","HPO_Synonym__c":"Epicanthal fold; Epicanthal folds; Epicanthic folds; Eye folds; Palpebronasal fold; Plica palpebronasalis; Prominent eye folds","HPO_Name__c":"Epicanthus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2842","HPO_Frequency__c":"Very frequent (80-99%)","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:2842","HPO_Frequency__c":"Very frequent (80-99%)","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:2842","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000795","HPO_Synonym__c":"Urethra issue","HPO_Name__c":"Abnormality of the urethra","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2842","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Atrophy of the cortex of the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002120","HPO_Synonym__c":"Cerebral cortex atrophy; Cortical atrophy; Decrease in size of the outer layer of the brain due to loss of brain cells","HPO_Name__c":"Cerebral cortical atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2842","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Agenesis, that is, failure of the kidney to develop during embryogenesis and development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000104","HPO_Synonym__c":"Absent kidney; Missing kidney; Renal aplasia","HPO_Name__c":"Renal agenesis","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Congenital Abnormality","Urogenital Disorders"],"Specialist":["Urologist","Pediatrics"]},"synonyms":["congenital penoscrotal transposition"," congenital transposition of the penis"," penoscrotal transposition (disease)"," prepenile scrotum"]}