{"Name":"Ring chromosome Y","DiseaseID__c":"GARD:0020785","id":20785,"encodedName":"ring-chromosome-y","IsDeleted":false,"Disease_Name_Full__c":"Ring chromosome Y","Xref_IDs__c":"763407008; C4706450; MEDGEN:1631964; MONDO:0016853; ORPHA:261529","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":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016853","Disease_Description__c":"A rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterized by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. Additional reported features include speech delay, obesity, and acanthosis nigricans. Gender dysphoria and comorbid bipolar disorder have also been observed.","GARD_Name__c":"Ring chromosome Y","GARD_Synonym__c":"r(y); ring chromosome type y; ring chromosome y syndrome","Curated_Disease_Description_Source__c":"ORPHA:261529","Curated_Disease_Description__c":"Ring chromosome Y syndrome is a rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterized by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g., ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. Additional reported features include speech delay, obesity, and acanthosis nigricans.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:261529","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016853","ORPHANET_ID__c":"ORPHA:261529","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome del cromosoma y en anillo","Spanish_Description_Source__c":"ORPHA:261529","Spanish_Description__c":"Es una anomalía estructural poco frecuente del cromosoma Y, con un fenotipo muy variable, caracterizada principalmente por talla baja, insuficiencia gonadal parcial o total, infantilismo sexual, anomalías genitales (como genitales ambiguos, hipospadias, criptorquidia) y azoospermia u oligozoospermia. Otras características adicionales descritas incluyen retraso del habla, obesidad y acantosis nigricans, así como disforia de género y trastorno bipolar comórbido.","Spanish_Disease_Name__c":"síndrome del cromosoma y en anillo","Spanish_GARD_Synonym__c":"cromosoma y en anillo; r(y)","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":"Ring chromosome Y syndrome is a rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterized by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g., ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. Additional reported features include speech delay, obesity, and acanthosis nigricans.","Curated_Disease_Description_Source__c":"ORPHA:261529","GARD_Synonym__c":"r(y); ring chromosome type y; ring chromosome y syndrome","Name":"Ring chromosome Y","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Unique","Website__c":"https://rarechromo.org/"},{"Account_Name__c":"Chromosome Disorder Outreach","Website__c":"https://chromodisorder.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Chromosomal Anomaly","Tag_Category__c":"Account;Cause","curated_tag_name":"Chromosome disorders"},{"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:261529"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763407008","Source__c":"C4706450; MONDO:0016853","Xref__c":"763407008"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1631964","Source__c":"C4706450","Xref__c":"MEDGEN:1631964"},{"URL__c":"https://www.orpha.net/en/disease/detail/261529","Source__c":"C4706450; MONDO:0016853; ORPHA:261529","Xref__c":"ORPHA:261529"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4706450","Source__c":"C4706450","Xref__c":"C4706450"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016853","Source__c":"GARD:0020785","Xref__c":"MONDO:0016853"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:261529","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Gonadal dysgenesis is the name given to any of a multitude of conditions that can cause impaired development of the gonads, i.e., the testes or ovaries, or to the related phenotypic features. The term is to be avoided if possible for new annotations, and more specific terms should be chosen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000133","HPO_Synonym__c":"Mixed gonadal dysgenesis; Pure gonadal dysgenesis","HPO_Name__c":"Gonadal dysgenesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:261529","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010464","HPO_Name__c":"Streak ovary","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:261529","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence of a testis from the scrotum on one side 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:0012741","HPO_Synonym__c":"Cryptorchidism, unilateral","HPO_Name__c":"Unilateral cryptorchidism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:261529","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormality of the female genital system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010460","HPO_Name__c":"Abnormality of the female genitalia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:261529","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:261529","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000150","HPO_Name__c":"Gonadoblastoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:261529","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal development of large mammary glands in males resulting in breast enlargement.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000771","HPO_Synonym__c":"Enlarged male breast; Gynaecomastia","HPO_Name__c":"Gynecomastia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:261529","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Ambiguous genitalia in an individual with XX genetic sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000061","HPO_Synonym__c":"Atypical appearance of female genitals","HPO_Name__c":"Ambiguous genitalia, female","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:261529","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Ambiguous genitalia in an individual with XY genetic sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000033","HPO_Synonym__c":"Ambiguous genitalia in males","HPO_Name__c":"Ambiguous genitalia, male","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:261529","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Accumulation of substantial excess body fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001513","HPO_Synonym__c":"Having too much body fat; Obesity","HPO_Name__c":"Obesity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:261529","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000026","HPO_Synonym__c":"Decreased function of male gonad","HPO_Name__c":"Male hypogonadism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:261529","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:261529","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:261529","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000027","HPO_Synonym__c":"Absent sperm in semen","HPO_Name__c":"Azoospermia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:261529","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008222","HPO_Synonym__c":"Female infertility","HPO_Name__c":"Female infertility","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:261529","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003251","HPO_Synonym__c":"Male infertility","HPO_Name__c":"Male infertility","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:261529","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypospadias with location of the urethral meatus in the perineal region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000051","HPO_Name__c":"Perineal hypospadias","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:261529","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormality of the male genital system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010461","HPO_Synonym__c":"Abnormal male genitals; Abnormality of the male genitalia","HPO_Name__c":"Abnormality of the male genitalia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:261529","HPO_Frequency__c":"Very frequent (80-99%)","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:261529","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A rare birth defect in women where the urethra and vagina both open into a common channel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100779","HPO_Name__c":"Urogenital sinus anomaly","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:261529","HPO_Frequency__c":"Very frequent (80-99%)","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:261529","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000062","HPO_Synonym__c":"Ambiguous external genitalia; Ambiguous external genitalia at birth; Intersex genitalia","HPO_Name__c":"Ambiguous genitalia","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["r(y)"," ring chromosome type y"," ring chromosome y syndrome"]}