{"Name":"Cataract-deafness-hypogonadism syndrome","DiseaseID__c":"GARD:0000248","id":248,"encodedName":"cataract-deafness-hypogonadism-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Cataract-deafness-hypogonadism syndrome","Xref_IDs__c":"722378009; C2931269; C536626; MEDGEN:419760; MONDO:0015325; ORPHA:1383","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":7,"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":2,"Description_Source__c":"MONDO:0015325","Disease_Description__c":"Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995.","GARD_Name__c":"Cataract-deafness-hypogonadism syndrome","GARD_Synonym__c":"cataract-hearing loss-hypogonadism syndrome; cataracts, sensorineural deafness, hypogonadism, hypertrichosis and short stature; congenital cataract with deafness and hypogonadism syndrome; schaap taylor baraitser syndrome; schaap-taylor-baraitser syndrome","Curated_Disease_Description_Source__c":"MONDO:0015325","Curated_Disease_Description__c":"Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:1383","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015325","ORPHANET_ID__c":"ORPHA:1383","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de catarata-sordera-hipogonadismo","Spanish_Description_Source__c":"ORPHA:1383","Spanish_Description__c":"El síndrome de catarata-sordera-hipogonadismo es un síndrome con anomalías congénitas múltiples extremadamente raro, descrito hasta la fecha en tan sólo tres hermanos varones, que se caracteriza por la asociación de catarata congénita, sordera neurosensorial, hipogonadismo, déficit intelectual leve, hipertricosis y talla baja. No se han descrito más casos en la bibliografía desde 1995.","Spanish_Disease_Name__c":"síndrome de catarata-sordera-hipogonadismo","Spanish_GARD_Synonym__c":"síndrome de catarata-hipoacusia-hipogonadismo; síndrome de schaap taylor baraitser","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":"Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995.","Curated_Disease_Description_Source__c":"MONDO:0015325","GARD_Synonym__c":"cataract-hearing loss-hypogonadism syndrome; cataracts, sensorineural deafness, hypogonadism, hypertrichosis and short stature; congenital cataract with deafness and hypogonadism syndrome; schaap taylor baraitser syndrome; schaap-taylor-baraitser syndrome","Name":"Cataract-deafness-hypogonadism 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":"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":"Ophthalmology","Tag_Category__c":"Specialist"},{"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":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"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:1383"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:1383"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722378009","Source__c":"C2931269; MONDO:0015325","Xref__c":"722378009"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931269","Source__c":"C2931269","Xref__c":"C2931269"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536626","Source__c":"MONDO:0015325","Xref__c":"C536626"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419760","Source__c":"C2931269","Xref__c":"MEDGEN:419760"},{"URL__c":"https://www.orpha.net/en/disease/detail/1383","Source__c":"C2931269; MONDO:0015325; ORPHA:1383","Xref__c":"ORPHA:1383"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015325","Source__c":"GARD:0000248","Xref__c":"MONDO:0015325"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1383","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Generalized excessive, abnormal hairiness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004554","HPO_Name__c":"Generalized hypertrichosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1383","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1383","HPO_Frequency__c":"Frequent (30-79%)","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:1383","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:1383","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000519","HPO_Synonym__c":"Bilateral congenital cataracts; Cataract, congenital; Clouding of the lens of the eye at birth; Congenital cataract; Congenital cataracts; Congenital cataracts, bilateral","HPO_Name__c":"Developmental cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1383","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001256","HPO_Synonym__c":"Intellectual disability, mild; Mental retardation, borderline-mild; Mild and nonprogressive mental retardation; Mild mental retardation","HPO_Name__c":"Mild intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Ophthalmology","Otolaryngology","Anterior segment of Eye","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["cataract-hearing loss-hypogonadism syndrome"," cataracts, sensorineural deafness, hypogonadism, hypertrichosis and short stature"," congenital cataract with deafness and hypogonadism syndrome"," schaap taylor baraitser syndrome"," schaap-taylor-baraitser syndrome"]}