{"Name":"Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome","DiseaseID__c":"GARD:0004899","id":4899,"encodedName":"male-hypergonadotropic-hypogonadism-intellectual-disability-skeletal-anomalies-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome","Xref_IDs__c":"722459008; C1843994; C564406; MEDGEN:334557; MONDO:0010617; OMIM:307500; ORPHA:2234","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":6,"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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010617","Disease_Description__c":"This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.","GARD_Name__c":"Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome","GARD_Synonym__c":"sohval-soffer syndrome","Curated_Disease_Description_Source__c":"MONDO:0010617","Curated_Disease_Description__c":"This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:2234","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010617","ORPHANET_ID__c":"ORPHA:2234","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hipogonadismo hipergonadotrópico masculino-discapacidad intelectual-anomalías esqueléticas","Spanish_Description_Source__c":"ORPHA:2234","Spanish_Description__c":"Este síndrome se caracteriza por hipogonadismo hipergonadotrópico, déficit intelectual, diabetes mellitus y anomalías esqueléticas congénitas en la columna cervical y las costillas superiores.","Spanish_Disease_Name__c":"síndrome de hipogonadismo hipergonadotrópico masculino-discapacidad intelectual-anomalías esqueléticas","Spanish_GARD_Synonym__c":"síndrome de sohval-soffer","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":"This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.","Curated_Disease_Description_Source__c":"MONDO:0010617","GARD_Synonym__c":"sohval-soffer syndrome","Name":"Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies s","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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological 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":"Urologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Infertility","Tag_Category__c":"Account","curated_tag_name":"Infertility"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2234"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/2234","Source__c":"C1843994; MONDO:0010617","Xref__c":"ORPHA:2234"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564406","Source__c":"MONDO:0010617","Xref__c":"C564406"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722459008","Source__c":"MONDO:0010617","Xref__c":"722459008"},{"URL__c":"https://www.omim.org/entry/307500","Source__c":"C1843994; MONDO:0010617; ORPHA:2234","Xref__c":"OMIM:307500"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1843994","Source__c":"C1843994","Xref__c":"C1843994"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=334557","Source__c":"C1843994","Xref__c":"MEDGEN:334557"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010617","Source__c":"GARD:0004899","Xref__c":"MONDO:0010617"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2234","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2234","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:2234","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Sparseness of the body hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002231","HPO_Synonym__c":"Limited body hair; Little body hair; Sparse body hair; Sparse to absent body hair","HPO_Name__c":"Sparse body hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2234","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003782","HPO_Name__c":"Eunuchoid habitus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2234","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000708","HPO_Synonym__c":"Behavioral abnormality; Behavioral changes; Behavioral disorders; Behavioral disturbances; Behavioral problems; Behavioral symptoms; Behavioral/psychiatric abnormalities; Behavioural symptoms; Behavioural/Psychiatric abnormality; Psychiatric disorders; Psychiatric disturbances","HPO_Name__c":"Atypical behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2234","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:2234","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005978","HPO_Synonym__c":"Diabetes mellitus Type II; Diabetes mellitus, noninsulin-dependent; NIDDM; NIDDM diabetes mellitus; Non-insulin dependent diabetes; Noninsulin dependent diabetes mellitus; Noninsulin-dependent diabetes; Type 2 diabetes; Type II diabetes","HPO_Name__c":"Type II diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2234","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:2234","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:2234","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the thyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000820","HPO_Synonym__c":"Abnormality of the thyroid gland; Thyroid abnormality","HPO_Name__c":"Abnormality of the thyroid gland","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2234","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Apparently small scrotum for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000046","HPO_Synonym__c":"Hypoplastic scrotum; Scrotal hypoplasia; Smaller than typical growth of scrotum; Underdeveloped scrotum","HPO_Name__c":"Small scrotum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2234","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:2234","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decreased functionality of the gonad.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000135","HPO_Synonym__c":"Decreased activity of gonads","HPO_Name__c":"Hypogonadism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2234","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of the joint between the trochlear notch of ulna and the trochlea of humerus, which is part of the elbow joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100745","HPO_Name__c":"Abnormality of the humeroulnar joint","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2234","HPO_Frequency__c":"Frequent (30-79%)","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:2234","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of the rib.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000772","HPO_Synonym__c":"Abnormality of the ribs; Rib abnormalities; Rib anomalies","HPO_Name__c":"Abnormal rib morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2234","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of one half of the vertebral body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002937","HPO_Synonym__c":"Hemi-vertebrae; Hemivertebra; Missing part of vertebrae","HPO_Name__c":"Hemivertebrae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2234","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal morphology of vertebral body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003312","HPO_Synonym__c":"Abnormal vertebral bodies; Abnormally shaped vertebrae","HPO_Name__c":"Abnormal form of the vertebral bodies","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2234","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Diminished length of the neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000470","HPO_Synonym__c":"Decreased length of neck; Short neck","HPO_Name__c":"Short neck","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Endocrine","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Endocrine","Urologist","Neurodevelopmental disabilities","Pediatrics"],"Account":["Infertility"]},"synonyms":["sohval-soffer syndrome"]}