Item talk:Q317048

From geokb

{

 "OpenAlex": {
   "id": "https://openalex.org/T13738",
   "display_name": "CHARGE Syndrome and Related Genetic Disorders",
   "description": "This cluster of papers focuses on CHARGE syndrome, a genetic disorder caused by mutations in the CHD7 gene. It covers a wide range of topics including the phenotypic spectrum, diagnostic criteria, craniofacial and neurological abnormalities, as well as related conditions such as choanal atresia and hypogonadotropic hypogonadism.",
   "keywords": [
     "CHD7 Gene",
     "Genetic Mutations",
     "Neural Crest Formation",
     "Phenotypic Spectrum",
     "Diagnostic Criteria",
     "Craniofacial Development",
     "Hypogonadotropic Hypogonadism",
     "Choanal Atresia",
     "Cochlear Implantation",
     "Neurological Abnormalities"
   ],
   "ids": {
     "openalex": "https://openalex.org/T13738",
     "wikipedia": "https://en.wikipedia.org/wiki/CHARGE_syndrome"
   },
   "subfield": {
     "id": "https://openalex.org/subfields/2716",
     "display_name": "Genetics"
   },
   "field": {
     "id": "https://openalex.org/fields/27",
     "display_name": "Medicine"
   },
   "domain": {
     "id": "https://openalex.org/domains/4",
     "display_name": "Health Sciences"
   },
   "siblings": [
     {
       "id": "https://openalex.org/T12199",
       "display_name": "Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia"
     },
     {
       "id": "https://openalex.org/T12400",
       "display_name": "Gene Therapy for Spinal Muscular Atrophy"
     },
     {
       "id": "https://openalex.org/T10554",
       "display_name": "Genetic and Clinical Aspects of Hemoglobin Disorders"
     },
     {
       "id": "https://openalex.org/T11157",
       "display_name": "Genomic Aberrations and Treatment of Chronic Lymphocytic Leukemia"
     },
     {
       "id": "https://openalex.org/T10129",
       "display_name": "Gliomas"
     },
     {
       "id": "https://openalex.org/T11917",
       "display_name": "Hereditary Angioedema: Molecular Mechanisms and Clinical Management"
     },
     {
       "id": "https://openalex.org/T11628",
       "display_name": "Molecular Pathogenesis of Myeloproliferative Disorders"
     },
     {
       "id": "https://openalex.org/T10176",
       "display_name": "Multipotent Mesenchymal Stem Cells"
     }
   ],
   "works_count": 9014,
   "cited_by_count": 92756,
   "updated_date": "2024-08-26T05:19:13.574225",
   "created_date": "2024-01-23"
 }

}