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Term ID: | 3731 |
Name: | Encephalocraniocutaneous lipomatosis |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:D005128|MESH:D008068|MESH:D020752 |
TreeNumbers: | C10.562/C535736 |C11/C535736 |C16.131.077.350.712/C535736 |C16.131.831.350.712/C535736 |C16.320.850.250.712/C535736 |C17.800.463/C535736 |C17.800.804.350.712/C535736 |C17.800.827.250.712/C535736 |C18.452.584.718/C535736 |
Synonyms: | Fishman syndrome |
Slim Mappings: | Congenital abnormality|Eye disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Skin disease |
Reference: |
MedGen: C535736
MeSH: C535736
OMIM: 613001;
Genes: | 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_023110.2(FGFR1):c.1966A>G (p.Lys656Glu) | 2260 | FGFR1 | Pathogenic | 869320694 | RCV000210479; | N | MedGen:C0406612,OMIM:613001,ORPHA:2396,SNOMED CT:238905009 | 8 | 38272308 | 38272308 | NM_023110.2:c.1966A>G | NP_075598.2:p.Lys656Glu | NC_000008.10:g.38272308T>C | OMIM Allelic Variant:136350.0034 | C0406612 613001 Encephalocraniocutaneous lipomatosis | | | NM_023110.2(FGFR1):c.1638C>A (p.Asn546Lys) | 2260 | FGFR1 | Pathogenic | 779707422 | RCV000210485; | N | MedGen:C0406612,OMIM:613001,ORPHA:2396,SNOMED CT:238905009 | 8 | 38274849 | 38274849 | NM_023110.2:c.1638C>A | NP_075598.2:p.Asn546Lys | NC_000008.10:g.38274849G>T | OMIM Allelic Variant:136350.0033 | C0406612 613001 Encephalocraniocutaneous lipomatosis | | |
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