|
Term ID: | 5588 |
Name: | HYPOMELANOSIS OF ITO |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:D007184|MESH:D017496 |
TreeNumbers: | C16.131.077.445/300337 |C16.131.831.580/300337 |C16.320.850.420/300337 |C17.800.621.440/300337 |C17.800.621.497/300337 |C17.800.804.580/300337 |C17.800.827.420/300337 |
Synonyms: | HMI |INCONTINENTIA PIGMENTI ACHROMIANS |INCONTINENTIA PIGMENTI, TYPE I, FORMERLY |IP1, FORMERLY |IPA |ITO |ITO HYPOMELANOSIS |
Slim Mappings: | Congenital abnormality|Genetic disease (inborn)|Skin disease |
Reference: |
MedGen: 300337
MeSH: 300337
OMIM: 300337;
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_145178.3(ATOH7):c.146A>T (p.Glu49Val) | 220202 | ATOH7 | Pathogenic | 587777664 | RCV000133577; | N | Gene:54719,MedGen:C1857299,OMIM:221900,ORPHA:300337 | 10 | 69991289 | 69991289 | NM_145178.3:c.146A>T | NP_660161.1:p.Glu49Val | 10:g.69991289T>A | OMIM Allelic Variant:609875.0002 | C0022283 300337 Hypomelanosis of Ito; C1857299 221900 Persistent hyperplastic primary vitreous, autosomal recessive | | | NM_145178.3(ATOH7):c.136A>C (p.Asn46His) | 220202 | ATOH7 | Pathogenic | 587777666 | RCV000133579; | N | Gene:54719,MedGen:C1857299,OMIM:221900,ORPHA:300337 | 10 | 69991299 | 69991299 | NM_145178.3:c.136A>C | NP_660161.1:p.Asn46His | 10:g.69991299T>G | OMIM Allelic Variant:609875.0004 | C0022283 300337 Hypomelanosis of Ito; C1857299 221900 Persistent hyperplastic primary vitreous, autosomal recessive | | | NM_145178.3(ATOH7):c.53delC (p.Pro18Argfs) | 220202 | ATOH7 | Pathogenic | 587777665 | RCV000133578; | N | Gene:54719,MedGen:C1857299,OMIM:221900,ORPHA:300337 | 10 | 69991382 | 69991382 | NM_145178.3:c.53delC | NP_660161.1:p.Pro18Argfs | | OMIM Allelic Variant:609875.0003 | C0022283 300337 Hypomelanosis of Ito; C1857299 221900 Persistent hyperplastic primary vitreous, autosomal recessive | | |
|
|