{"Name":"Mikati-Najjar-Sahli syndrome","DiseaseID__c":"GARD:0003617","id":3617,"encodedName":"mikati-najjar-sahli-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Mikati-Najjar-Sahli syndrome","Xref_IDs__c":"C4518578; MEDGEN:1376092; MONDO:0016818; ORPHA:2558","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0016818","Disease_Description__c":"Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities).","GARD_Name__c":"Mikati-Najjar-Sahli syndrome","GARD_Synonym__c":"microcephalus, hypergonadotropic hypogonadism, short stature syndrome; microcephaly-hypergonadotropic hypogonadism-short stature syndrome; mikati najjar sahli syndrome","Curated_Disease_Description_Source__c":"MONDO:0016818","Curated_Disease_Description__c":"Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities).","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:2558","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016818","ORPHANET_ID__c":"ORPHA:2558","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de mikati-najjar-sahli","Spanish_Description_Source__c":"ORPHA:2558","Spanish_Description__c":"Es un síndrome caracterizado por microcefalia, hipogonadismo hipergonadotrópico, talla baja y dismorfia facial (frente estrecha, hipertrofia y fusión de las cejas, micrognatia y anomalías del pabellón auricular).","Spanish_Disease_Name__c":"síndrome de mikati-najjar-sahli","Spanish_GARD_Synonym__c":"microcefalia-hipogonadismo hipergonadotrópico-talla baja","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":"Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities).","Curated_Disease_Description_Source__c":"MONDO:0016818","GARD_Synonym__c":"microcephalus, hypergonadotropic hypogonadism, short stature syndrome; microcephaly-hypergonadotropic hypogonadism-short stature syndrome; mikati najjar sahli syndrome","Name":"Mikati-Najjar-Sahli 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":"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:2558"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2558"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4518578","Source__c":"C4518578","Xref__c":"C4518578"},{"URL__c":"https://www.orpha.net/en/disease/detail/2558","Source__c":"C4518578; MONDO:0016818; ORPHA:2558","Xref__c":"ORPHA:2558"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1376092","Source__c":"C4518578","Xref__c":"MEDGEN:1376092"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016818","Source__c":"GARD:0003617","Xref__c":"MONDO:0016818"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=733092009","Source__c":"C4518578","Xref__c":"733092009"}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine"],"Specialist":["Genetics","Endocrine","Urologist","Pediatrics"],"Account":["Infertility"]},"synonyms":["microcephalus, hypergonadotropic hypogonadism, short stature syndrome"," microcephaly-hypergonadotropic hypogonadism-short stature syndrome"," mikati najjar sahli syndrome"]}