{"Name":"46,XX disorder of sex development-skeletal anomalies syndrome","DiseaseID__c":"GARD:0016617","id":16617,"encodedName":"46xx-disorder-of-sex-development-skeletal-anomalies-syndrome","IsDeleted":false,"Disease_Name_Full__c":"46,XX disorder of sex development-skeletal anomalies syndrome","Xref_IDs__c":"C1849696; C564869; MEDGEN:341514; MONDO:0009915; OMIM:264270; ORPHA:2975","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","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":0,"Description_Source__c":"ORPHA:2975","Disease_Description__c":"A rare disorder of sex development characterized by primary amenorrhea and ambiguous external genitalia (enlarged clitoris with marked fusion of the labioscrotal folds) in association with skeletal anomalies (such as hypoplasia of the mandibular condyles and the maxilla, and ulnar dislocation of the radial heads), in the presence of a 46,XX karyotype and regular ovaries, fallopian tubes, and uterus. There have been no further descriptions in the literature since 1972.","GARD_Name__c":"46,XX disorder of sex development-skeletal anomalies syndrome","GARD_Synonym__c":"female pseudohermaphroditism-skeletal anomalies syndrome; pseudohermaphroditism, female, with skeletal anomalies","Curated_Disease_Description_Source__c":"ORPHA:2975","Curated_Disease_Description__c":"A rare disorder of sex development characterized by primary amenorrhea and ambiguous external genitalia (enlarged clitoris with marked fusion of the labioscrotal folds) in association with skeletal anomalies (such as hypoplasia of the mandibular condyles and the maxilla, and ulnar dislocation of the radial heads), in the presence of a 46,XX karyotype and regular ovaries, fallopian tubes, and uterus.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:2975","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009915","ORPHANET_ID__c":"ORPHA:2975","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de desarrollo sexual diferente 46,xx-anomalías esqueléticas","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de desarrollo sexual diferente 46,xx-anomalías esqueléticas","Spanish_GARD_Synonym__c":"síndrome de trastorno del desarrollo sexual 46,xx-anomalías esqueléticas; síndrome dsd 46,xx-anomalías esqueléticas","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 disorder of sex development characterized by primary amenorrhea and ambiguous external genitalia (enlarged clitoris with marked fusion of the labioscrotal folds) in association with skeletal anomalies (such as hypoplasia of the mandibular condyles and the maxilla, and ulnar dislocation of the radial heads), in the presence of a 46,XX karyotype and regular ovaries, fallopian tubes, and uterus.","Curated_Disease_Description_Source__c":"ORPHA:2975","GARD_Synonym__c":"female pseudohermaphroditism-skeletal anomalies syndrome; pseudohermaphroditism, female, with skeletal anomalies","Name":"46,XX disorder of sex development-skeletal anomalies syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"No data available","Provided_By__c":"ORPHA:2975"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/2975","Source__c":"C1849696; MONDO:0009915","Xref__c":"ORPHA:2975"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564869","Source__c":"MONDO:0009915","Xref__c":"C564869"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1849696","Source__c":"C1849696","Xref__c":"C1849696"},{"URL__c":"https://www.omim.org/entry/264270","Source__c":"C1849696; MONDO:0009915; ORPHA:2975","Xref__c":"OMIM:264270"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=341514","Source__c":"C1849696","Xref__c":"MEDGEN:341514"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009915","Source__c":"GARD:0016617","Xref__c":"MONDO:0009915"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2975","HPO_Frequency__c":"Excluded (0%)","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:2975","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"An abnormality of the uterus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000130","HPO_Synonym__c":"Abnormality of the uterus; Uterine abnormalities; Uterine malformations","HPO_Name__c":"Abnormality of the uterus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2975","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"An abnormality of the ovary.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000137","HPO_Synonym__c":"Abnormality of the ovaries; Abnormality of the ovary","HPO_Name__c":"Abnormality of the ovary","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2975","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040253","HPO_Name__c":"Increased size of the clitoris","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2975","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"A dislocation of the head of the radius from its socket in the elbow joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003083","HPO_Synonym__c":"Congenital radial head dislocation; Dislocated radius; Dislocation of radial head; Dislocation of the radial head; Radial dislocation; Radial head dislocation; Radial head dislocation/subluxation","HPO_Name__c":"Dislocated radial head","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2975","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000063","HPO_Synonym__c":"Fused inner lips","HPO_Name__c":"Fused labia minora","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2975","HPO_Frequency__c":"Always (100%)","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:2975","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003871","HPO_Synonym__c":"Deformed long bone in upper arm","HPO_Name__c":"Deformed humerus","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2975","HPO_Frequency__c":"Always (100%)","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:2975","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively small in size compared to the other parts of the maxilla or other facial structures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010650","HPO_Synonym__c":"Decreased size of premaxilla; Decreased size of the primary palate bone; Hypoplasia of the intermaxillary bone; Hypoplasia of the primary palate bone; Premaxillary bone deficiency; Premaxillary underdevelopment; Primary palate bone deficiency; Small premaxilla; Small primary palate bone; Underdevelopment of premaxilla; Underdevelopment of the premaxilla; Underdevelopment of the primary palate bone","HPO_Name__c":"Hypoplasia of the premaxilla","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2975","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007628","HPO_Synonym__c":"Decreased size of condylar process of mandible; Decreased size of mandibular condyle; Hypoplasia of condylar process of mandible; Hypoplasia of mandibular condyle; Hypoplasia of subcondylar region of mandible; Small mandibular condyle","HPO_Name__c":"Mandibular condyle hypoplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2975","HPO_Frequency__c":"Always (100%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Endocrine","Obstetrics / Gynecology","Urologist"]},"synonyms":["female pseudohermaphroditism-skeletal anomalies syndrome"," pseudohermaphroditism, female, with skeletal anomalies"]}