{"Name":"Posterior hypospadias","DiseaseID__c":"GARD:0016840","id":16840,"encodedName":"posterior-hypospadias","IsDeleted":false,"Disease_Name_Full__c":"Posterior hypospadias","Xref_IDs__c":"818963004; C5231010; MEDGEN:1684864; MONDO:0019848; ORPHA:95706","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019848","Disease_Description__c":"A rare, non-syndromic, congenital, urogenital tract malformation affecting males and characterized by penoscrotal, scrotal or perineal displacement of the urethral meatus, and commonly associated with curvation of the penis. The scrotum might appear bifid in severe cases, and the boy can also have a micropenis.","GARD_Name__c":"Posterior hypospadias","GARD_Synonym__c":"hypospadias, severe form; non-syndromic posterior hypospadias; perineal, scrotal or penoscrotal hypospadias","Curated_Disease_Description_Source__c":"MONDO:0019848","Curated_Disease_Description__c":"A rare, non-syndromic, congenital, urogenital tract malformation affecting males and characterized by penoscrotal, scrotal or perineal displacement of the urethral meatus, and commonly associated with curvation of the penis. The scrotum might appear bifid in severe cases, and the boy can also have a micropenis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:95706","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019848","ORPHANET_ID__c":"ORPHA:95706","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipospadias posteriores","Spanish_Description_Source__c":"ORPHA:95706","Spanish_Description__c":"Es una malformación del tracto urogenital, no sindrómica y poco frecuente, caracterizada por un desplazamiento perineal, escrotal o penoescrotal del meato uretral habitualmente asociado a incurvación peneana. En casos graves, el escroto puede tener una apariencia de escroto bífido y puede ir acompañado de micropene.","Spanish_Disease_Name__c":"hipospadias posteriores","Spanish_GARD_Synonym__c":"hipospadias perineal, escrotal o penoescrotal; hipospadias, forma grave","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, congenital, urogenital tract malformation affecting males and characterized by penoscrotal, scrotal or perineal displacement of the urethral meatus, and commonly associated with curvation of the penis. The scrotum might appear bifid in severe cases, and the boy can also have a micropenis.","Curated_Disease_Description_Source__c":"MONDO:0019848","GARD_Synonym__c":"hypospadias, severe form; non-syndromic posterior hypospadias; perineal, scrotal or penoscrotal hypospadias","Name":"Posterior hypospadias","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"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":"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:95706"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:95706"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/95706","Source__c":"C5231010; MONDO:0019848; ORPHA:95706","Xref__c":"ORPHA:95706"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1684864","Source__c":"C5231010","Xref__c":"MEDGEN:1684864"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5231010","Source__c":"C5231010","Xref__c":"C5231010"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=818963004","Source__c":"C5231010","Xref__c":"818963004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019848","Source__c":"GARD:0016840","Xref__c":"MONDO:0019848"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MAMLD1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Non-Mendelian inheritance","X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:95706","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000716","HPO_Synonym__c":"Depression; Depressive episode; Depressivity","HPO_Name__c":"Depression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95706","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the endocrine system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000818","HPO_Name__c":"Abnormality of the endocrine system","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95706","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001518","HPO_Synonym__c":"Birth weight less than 10th percentile; Low birth weight; Small for gestational age","HPO_Name__c":"Small for gestational age","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95706","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100627","HPO_Synonym__c":"Displacement of the external urethral orifice; Displacement of the male external urethral orifice","HPO_Name__c":"Displacement of the urethral meatus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95706","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000739","HPO_Synonym__c":"Anxiety; Anxiousness; Excessive, persistent worry and fear","HPO_Name__c":"Anxiety","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95706","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of a diverticulum (sac or pouch) in the wall of the urethra.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008722","HPO_Name__c":"Urethral diverticulum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95706","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduction in length of the ventral (lower) skin of prepuce of penis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012435","HPO_Name__c":"Ventral shortening of foreskin","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95706","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Insufficient amount of androgenic activity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008226","HPO_Synonym__c":"Hypoandrogenism","HPO_Name__c":"Androgen insufficiency","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95706","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a hernia of the diaphragm present at birth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000776","HPO_Synonym__c":"Diaphragmatic hernia","HPO_Name__c":"Congenital diaphragmatic hernia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95706","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002032","HPO_Synonym__c":"Birth defect in which part of esophagus did not develop","HPO_Name__c":"Esophageal atresia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95706","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:95706","HPO_Frequency__c":"Occasional (5-29%)","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:95706","HPO_Frequency__c":"Frequent (30-79%)","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:95706","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:95706","HPO_Frequency__c":"Occasional (5-29%)","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:95706","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000054","HPO_Synonym__c":"Short penis; Small penis","HPO_Name__c":"Micropenis","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Urologist","Pediatrics"]},"synonyms":["hypospadias, severe form"," non-syndromic posterior hypospadias"," perineal, scrotal or penoscrotal hypospadias"]}