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Term ID: | 5968 |
Name: | Johanson Blizzard syndrome |
Definition: | |
Alternative IDs: | OMIM:243800 |
ParentIDs: | MESH:D001006|MESH:D004476|MESH:D006130|MESH:D006319|MESH:D007037|MESH:D008607|MESH:D010182 |
TreeNumbers: | C06.198.050/C535880 |C06.689/C535880 |C09.218.458.341.887/C535880 |C10.597.606.643/C535880 |C10.597.751.418.341.887/C535880 |C16.131.077.350/C535880 |C16.131.314.094/C535880 |C16.131.831.350/C535880 |C16.320.850.250/C535880 |C17.800.804.350/C535880 |C17.800.827.25 |
Synonyms: | Ectodermal Dysplasia-Exocrine Pancreatic Insufficiency |JBS |Johanson-Blizzard Syndrome |Malabsorption-Ectodermal Dysplasia-Nasal Alar Hypoplasia |Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia, and Congenital Deafness |Nasal Alar Hypoplasia, Hypot |
Slim Mappings: | Congenital abnormality|Digestive system disease|Ear-nose-throat disease|Endocrine system disease|Genetic disease (inborn)|Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms|Skin disease |
Reference: |
MedGen: C535880
MeSH: C535880
OMIM: 243800;
Genes: UBR1; | Phenotypes | | Disease Causing ClinVar Variants | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_174916.2(UBR1):c.4107T>A (p.Cys1369Ter) | 197131 | UBR1 | Pathogenic | 797045112 | RCV000190636; | N | MedGen:C0175692,OMIM:243800,ORPHA:2315,SNOMED CT:75979009 | 15 | 43276138 | 43276138 | NM_174916.2:c.4107T>A | NP_777576.1:p.Cys1369Ter | NC_000015.9:g.43276138A>T | - | C0175692 243800 Johanson-Blizzard syndrome | | | NM_174916.2(UBR1):c.1537C>T (p.Gln513Ter) | 197131 | UBR1 | Pathogenic | 119477055 | RCV000004944; | N | MedGen:C0175692,OMIM:243800,ORPHA:2315,SNOMED CT:75979009 | 15 | 43340592 | 43340592 | NM_174916.2:c.1537C>T | NP_777576.1:p.Gln513Ter | NC_000015.9:g.43340592G>A | OMIM Allelic Variant:605981.0003 | C0175692 243800 Johanson-Blizzard syndrome | | | NM_174916.2(UBR1):c.407A>G (p.His136Arg) | 197131 | UBR1 | Pathogenic | 119477054 | RCV000004942; | N | MedGen:C0175692,OMIM:243800,ORPHA:2315,SNOMED CT:75979009 | 15 | 43374846 | 43374846 | NM_174916.2:c.407A>G | NP_777576.1:p.His136Arg | NC_000015.9:g.43374846T>C | OMIM Allelic Variant:605981.0001 | C0175692 243800 Johanson-Blizzard syndrome | | |
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