Johanson-Blizzard Syndrome
| Disease Aliases (10) | Ectodermal dysplasia-exocrine pancreatic insufficiency Jbs Johanson blizzard syndrome Johanson-blizzard syndrome; jbs Malabsorption-ectodermal dysplasia-nasal alar hypoplasia Nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness Nasal alar hypoplasia, hypothyroidism, pancreatic achylia, congenital deafness Nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness Pancreatic insufficiency, combined exocrine |
Associated Genes (1) NCBI-RefSeq: UBR1 (Ubiquitin protein ligase E3 component n-recognin 1) External Links: gnomAD browser Ensembl GeneCards
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| Cross-references of Johanson-Blizzard syndrome | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |