{"Name":"46,XY partial gonadal dysgenesis","DiseaseID__c":"GARD:0017211","id":17211,"encodedName":"46xy-partial-gonadal-dysgenesis","IsDeleted":false,"Disease_Name_Full__c":"46,XY partial gonadal dysgenesis","Xref_IDs__c":"725045004; C4510744; MEDGEN:1388250; MONDO:0016674; ORPHA:251510","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"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":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0016674","Disease_Description__c":"A rare disorder/difference of sex development (DSD) characterized by atypical gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a 46,XY karyotype.","GARD_Name__c":"46,XY partial gonadal dysgenesis","GARD_Synonym__c":"46,xy partial testicular dysgenesis; 46,xy pgd","Curated_Disease_Description_Source__c":"ORPHA:251510","Curated_Disease_Description__c":"46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype.","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:251510","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016674","ORPHANET_ID__c":"ORPHA:251510","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Disgenesia gonadal parcial 46,xy","Spanish_Description_Source__c":"ORPHA:251510","Spanish_Description__c":"Es una anomalía del desarrollo sexual/ desarrollo sexual diferente (DSD) poco frecuente que se caracteriza por un desarrollo gonadal atípico que resulta en ambigüedad genital de grado variable que va desde un fenotipo casi femenino hasta un fenotipo prácticamente masculino en un paciente con un cariotipo 46,XY.","Spanish_Disease_Name__c":"disgenesia gonadal parcial 46,xy","Spanish_GARD_Synonym__c":"46,xy pgd; disgenesia testicular parcial 46,xy; pgd 46,xy","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":"46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype.","Curated_Disease_Description_Source__c":"ORPHA:251510","GARD_Synonym__c":"46,xy partial testicular dysgenesis; 46,xy pgd","Name":"46,XY partial gonadal dysgenesis","estimateUsa":""}],"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":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine 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":"Obstetrics / Gynecology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Urologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Infertility","Tag_Category__c":"Account","curated_tag_name":"Infertility"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:251510"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:251510"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4510744","Source__c":"C4510744","Xref__c":"C4510744"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1388250","Source__c":"C4510744","Xref__c":"MEDGEN:1388250"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=725045004","Source__c":"C4510744; MONDO:0016674","Xref__c":"725045004"},{"URL__c":"https://www.orpha.net/en/disease/detail/251510","Source__c":"C4510744; MONDO:0016674; ORPHA:251510","Xref__c":"ORPHA:251510"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016674","Source__c":"GARD:0017211","Xref__c":"MONDO:0016674"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"WWOX","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"NR5A1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/nr5a1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"DHX37","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SRY","GHR_URL__c":"https://medlineplus.gov/genetics/gene/sry","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"GATA4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MAP3K1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/map3k1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SOX9","GHR_URL__c":"https://medlineplus.gov/genetics/gene/sox9","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ZFPM2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive","Autosomal dominant","Autosomal recessive","Y-linked"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:251510","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040171","HPO_Synonym__c":"Decreased serum testosterone level; Decreased serum testosterone levels; Low serum testosterone level; Low serum testosterone levels","HPO_Name__c":"Decreased serum testosterone concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251510","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of female external genitalia in a person with a male karyotype.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008730","HPO_Synonym__c":"Males with female external genitalia","HPO_Name__c":"Female external genitalia in individual with 46,XY karyotype","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251510","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008736","HPO_Synonym__c":"Underdeveloped penis","HPO_Name__c":"Hypoplasia of penis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251510","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000868","HPO_Synonym__c":"Decreased fertility in females; Reduced fertility in females","HPO_Name__c":"Decreased fertility in females","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251510","HPO_Frequency__c":"Very frequent (80-99%)","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:251510","HPO_Frequency__c":"Very frequent (80-99%)","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:251510","HPO_Frequency__c":"Very frequent (80-99%)","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:251510","HPO_Frequency__c":"Very frequent (80-99%)","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"}},{"Provided_By__c":"ORPHA:251510","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000815","HPO_Synonym__c":"Hypergonadotrophic hypogonadism; Primary hypogonadism","HPO_Name__c":"Hypergonadotropic hypogonadism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251510","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000823","HPO_Synonym__c":"Delayed pubertal development; Delayed pubertal growth; Delayed puberty; Pubertal delay","HPO_Name__c":"Delayed puberty","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251510","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced volume of the testicle (the male gonad).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008734","HPO_Synonym__c":"Decreased testicular size; Decreased testicular volume; Hypoplastic testes; Reduced testicular volume; Small testes; Small testis; Testicular hypoplasia","HPO_Name__c":"Decreased testicular size","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251510","HPO_Frequency__c":"Frequent (30-79%)","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:251510","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000100","HPO_Synonym__c":"Nephrosis","HPO_Name__c":"Nephrotic syndrome","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251510","HPO_Frequency__c":"Very frequent (80-99%)","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"}},{"Provided_By__c":"ORPHA:251510","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An elevated concentration of follicle-stimulating hormone in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008232","HPO_Synonym__c":"Elevated follicle stimulating hormone; Elevated follicle-stimulating hormone; Elevated FSH level; Elevated plasma follicle stimulating hormone; Increased circulating follicle stimulating hormone level","HPO_Name__c":"Elevated circulating follicle stimulating hormone level","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251510","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a gonadoblastoma of the ovary.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000149","HPO_Synonym__c":"Gonadoblastoma, female","HPO_Name__c":"Ovarian gonadoblastoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251510","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction below normal concentration of estradiol in the circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008214","HPO_Synonym__c":"Decreased serum estradiol","HPO_Name__c":"Decreased serum estradiol","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251510","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An elevated concentration of luteinizing hormone in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011969","HPO_Synonym__c":"Elevated LH level; Elevated luteinizing hormone; Increased circulating luteinizing hormone level","HPO_Name__c":"Elevated circulating luteinizing hormone level","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251510","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000846","HPO_Synonym__c":"Hypoadrenalism","HPO_Name__c":"Adrenal insufficiency","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251510","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:251510","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008193","HPO_Name__c":"Primary gonadal insufficiency","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251510","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Anomaly of primary or secondary sexual development or characteristics.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012244","HPO_Name__c":"Abnormal sex determination","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251510","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a gonadoblastoma of the testis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000030","HPO_Name__c":"Testicular gonadoblastoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251510","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:251510","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002750","HPO_Synonym__c":"Delayed bone age; Delayed bone age before puberty; Delayed bone maturation; Delayed skeletal development; Retarded bone age; Skeletal maturation retardation","HPO_Name__c":"Delayed skeletal maturation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251510","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000812","HPO_Synonym__c":"Abnormal internal genitalia","HPO_Name__c":"Abnormal internal genitalia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251510","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the vagina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008726","HPO_Synonym__c":"Hypoplastic vagina; Rudimentary vagina; Underdeveloped vagina","HPO_Name__c":"Hypoplasia of the vagina","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251510","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the heart and blood vessels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030680","HPO_Synonym__c":"Abnormality of cardiovascular system morphology; Cardiovascular malformations","HPO_Name__c":"Abnormal cardiovascular system morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251510","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000939","HPO_Name__c":"Osteoporosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251510","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000786","HPO_Name__c":"Primary amenorrhea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251510","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A condition which is considered to be due to the subsequent atrophy and disappearance in fetal life of an initially normal testis. In the presence of spermatic cord structures is evidence of the presence of the testis in early intrauterine life. When associated with a blind-ending spermatic cord, this entity is named as his absence of a testis in an otherwise normal 46XY male is usually unilateral and is assumed to be a consequence of intrauterine or perinatal torsion or infarction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012870","HPO_Synonym__c":"Vanishing testis","HPO_Name__c":"Vanishing testis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251510","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced number or density of pubic hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002225","HPO_Synonym__c":"Decreased sexual hair; Sparse pubic hair; sparse to absent pubic hair","HPO_Name__c":"Sparse pubic hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251510","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hypertrophy of the clitoris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008665","HPO_Synonym__c":"Clitoral enlargement; Clitoromegaly; Enlarged clitoris; Hypertrophic clitoris; Prominent clitoris","HPO_Name__c":"Clitoral hypertrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251510","HPO_Frequency__c":"Very frequent (80-99%)","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:251510","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the labia, the externally visible portions of the vulva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000058","HPO_Synonym__c":"Abnormality of the labia","HPO_Name__c":"Abnormal labia morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251510","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:251510","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced number or density of axillary hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002215","HPO_Synonym__c":"Limited armpit hair; Little underarm hair; sparse to absent axillary hair","HPO_Name__c":"Sparse axillary hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251510","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of the scrotum, i.e., the sac that contains the testes, epididymis, and the lower part of the spermatic cord.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000045","HPO_Synonym__c":"Abnormality of the scrotum","HPO_Name__c":"Abnormal scrotum morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251510","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000837","HPO_Synonym__c":"Elevated gonadotropins; Elevated serum gonadotropins; Gonadotropin excess; Increased circulating gonadotropin level","HPO_Name__c":"Increased circulating gonadotropin level","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251510","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of the vagina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000142","HPO_Synonym__c":"Vaginal malformation","HPO_Name__c":"Abnormal vagina morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251510","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"No secondary sexual characteristics are present at puberty.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008187","HPO_Synonym__c":"No secondary sexual characteristics at puberty","HPO_Name__c":"Absence of secondary sex characteristics","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251510","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002667","HPO_Synonym__c":"Wilms tumor","HPO_Name__c":"Nephroblastoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251510","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Endocrine","Obstetrics / Gynecology","Urologist","Pediatrics"],"Account":["Infertility"]},"synonyms":["46,xy partial testicular dysgenesis"," 46,xy pgd"]}