{"Name":"46 XX gonadal dysgenesis","DiseaseID__c":"GARD:0005671","id":5671,"encodedName":"46-xx-gonadal-dysgenesis","IsDeleted":false,"Disease_Name_Full__c":"46 XX gonadal dysgenesis","Xref_IDs__c":"95198001; C0685837; C120197; D023961; DOID:14450; MEDGEN:146899; MONDO:0009299; OMIMPS:233300; ORPHA:243","USA_Estimate__c":"50,000","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":"80,000 to 800,000","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":2,"Description_Source__c":"MONDO:0009299","Disease_Description__c":"A rare disorder/difference of sex development characterized by a primary ovarian defect, either a failure of the gonads to develop or resistance to gonadotrophin stimulation which leads to premature ovarian failure (POF) in otherwise phenotypically female 46,XX individuals.","GARD_Name__c":"46 XX gonadal dysgenesis","GARD_Synonym__c":"46,xx complete gonadal dysgenesis; 46,xx gonadal dysgenesis; 46,xx ovarian dysgenesis; 46,xx pure gonadal dysgenesis; follicular stimulating hormone-resistant ovaries; fsh-ro; hypergonadotropic ovarian dysgenesis; ovarian dysgenesis with normal chromosomes; pure gonadal dysgenesis 46,xx; xx female gonadal dysgenesis; xx-gd","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"46,XX gonadal dysgenesis is a condition where the ovaries don't develop properly. This can lead to premature ovarian failure in females who have a normal chromosome makeup. This can happen because the gonads don't develop or because they don't respond to hormones that stimulate their growth.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:243","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0009299","ORPHANET_ID__c":"ORPHA:243","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Disgenesia gonadal 46,xx","Spanish_Description_Source__c":"ORPHA:243","Spanish_Description__c":"Es una forma de desarrollo sexual diferente caracterizado por un defecto ovárico primario, ya sea por un fallo del desarrollo de las gónadas o por resistencia a la estimulación con gonadotrofinas que conduce a insuficiencia ovárica prematura (IOP) en individuos fenotípicamente femeninos 46,XX.","Spanish_Disease_Name__c":"disgenesia gonadal 46,xx","Spanish_GARD_Synonym__c":"disgenesia gonadal completa 46,xx; disgenesia gonadal femenina xx; disgenesia gonadal pura 46,xx; disgenesia ovárica 46,xx; disgenesia ovárica hipergonadotrópica; xx-gd","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,XX gonadal dysgenesis is a condition where the ovaries don't develop properly. This can lead to premature ovarian failure in females who have a normal chromosome makeup. This can happen because the gonads don't develop or because they don't respond to hormones that stimulate their growth.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"46,xx complete gonadal dysgenesis; 46,xx gonadal dysgenesis; 46,xx ovarian dysgenesis; 46,xx pure gonadal dysgenesis; follicular stimulating hormone-resistant ovaries; fsh-ro; hypergonadotropic ovarian dysgenesis; ovarian dysgenesis with normal chromosomes; pure gonadal dysgenesis 46,xx; xx female gonadal dysgenesis; xx-gd","Name":"46 XX gonadal dysgenesis","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Accord Alliance","Website__c":"http://www.accordalliance.org/"}],"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":"Adult","Provided_By__c":"ORPHA:243"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:243"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005671","Source__c":"RareSource"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C120197","Source__c":"MONDO:0009299","Xref__c":"C120197"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0685837","Source__c":"C0685837","Xref__c":"C0685837"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A14450","Source__c":"MONDO:0009299","Xref__c":"DOID:14450"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C023961","Source__c":"MONDO:0009299","Xref__c":"D023961"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=146899","Source__c":"C0685837","Xref__c":"MEDGEN:146899"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=95198001","Source__c":"C0685837; MONDO:0009299","Xref__c":"95198001"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS233300","Source__c":"MONDO:0009299","Xref__c":"OMIMPS:233300"},{"URL__c":"https://www.orpha.net/en/disease/detail/243","Source__c":"C0685837; MONDO:0009299","Xref__c":"ORPHA:243"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009299","Source__c":"GARD:0005671","Xref__c":"MONDO:0009299"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"BNC1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MSH4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SPIDR","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"BMP15","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ZSWIM7","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"POLR3H","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"NUP107","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":"MRPS22","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"FSHR","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PSMC3IP","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"FIGLA","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","X-linked recessive","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:243","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:243","HPO_Frequency__c":"Frequent (30-79%)","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:243","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004349","HPO_Synonym__c":"Decreased bone mineral density; Decreased bone mineral density Z score; Low solidness and mass of the bones","HPO_Name__c":"Reduced bone mineral density","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:243","HPO_Frequency__c":"Always (100%)","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:243","HPO_Frequency__c":"Occasional (5-29%)","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:243","HPO_Frequency__c":"Very frequent (80-99%)","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:243","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:243","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian insuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008209","HPO_Synonym__c":"Climacterium praecox; Early menopause; Hypergonadotropic amenorrhea; Menopause praecox; Premature menopause; Premature ovarian failure; Primary ovarian insufficiency","HPO_Name__c":"Premature ovarian insufficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:243","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001251","HPO_Synonym__c":"Cerebellar ataxia","HPO_Name__c":"Ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:243","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Replacement of normal lung tissues by fibroblasts and collagen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002206","HPO_Synonym__c":"Pulmonary scarring","HPO_Name__c":"Pulmonary fibrosis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:243","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:243","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Abnormally long and slender fingers (spider fingers).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001166","HPO_Synonym__c":"Long slender fingers; Long, slender fingers; Spider fingers","HPO_Name__c":"Arachnodactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:243","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001939","HPO_Synonym__c":"Laboratory abnormality; Metabolism abnormality","HPO_Name__c":"Abnormality of metabolism/homeostasis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:243","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000869","HPO_Synonym__c":"Previous menstrual periods stop","HPO_Name__c":"Secondary amenorrhea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:243","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the breasts.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010311","HPO_Synonym__c":"Absent/small breasts; Absent/underdeveloped breasts","HPO_Name__c":"Aplasia/Hypoplasia of the breasts","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:243","HPO_Frequency__c":"Frequent (30-79%)","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:243","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009888","HPO_Synonym__c":"Abnormality of secondary sexual hair","HPO_Name__c":"Abnormality of secondary sexual hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:243","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000938","HPO_Synonym__c":"Generalized osteopenia","HPO_Name__c":"Osteopenia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:243","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence or developmental hypoplasia of the uterus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008684","HPO_Synonym__c":"Absent/small uterus; Absent/underdeveloped uterus","HPO_Name__c":"Aplasia/hypoplasia of the uterus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:243","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000144","HPO_Synonym__c":"Abnormal fertility; Decreased fertility","HPO_Name__c":"Decreased fertility","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:243","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Osteoporosis affecting predominantly the vertebrae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005625","HPO_Name__c":"Osteoporosis of vertebrae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:243","HPO_Frequency__c":"Excluded (0%)","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:243","HPO_Frequency__c":"Frequent (30-79%)","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:243","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:243","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","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,xx complete gonadal dysgenesis"," 46,xx gonadal dysgenesis"," 46,xx ovarian dysgenesis"," 46,xx pure gonadal dysgenesis"," follicular stimulating hormone-resistant ovaries"," fsh-ro"," hypergonadotropic ovarian dysgenesis"," ovarian dysgenesis with normal chromosomes"," pure gonadal dysgenesis 46,xx"," xx female gonadal dysgenesis"," xx-gd"]}