Disease Browser
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Parent Node:
Congenital Disorders of Glycosylation (D018981) | ..Starting node .. CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
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Sister Nodes: | .. Coloboma, Ocular, And Ichthyosis, Brain Malformations, And Endocrine Abnormalities (C567328)
| .. CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
| .. Congenital disorder of glycosylation type 1A (C535739)
| .. Congenital disorder of glycosylation type 1B (C535740)
| .. Congenital disorder of glycosylation type 1C (C535741)
| .. Congenital disorder of glycosylation type 1D (C535742)
| .. Congenital disorder of glycosylation type 1E (C535743)
| .. Congenital disorder of glycosylation type 1F (C535744)
| .. Congenital disorder of glycosylation type 1G (C535745)
| .. Congenital disorder of glycosylation type 1H (C535746)
| .. Congenital disorder of glycosylation type 1I (C000623088)
| .. Congenital disorder of glycosylation type 1J (C535748)
| .. Congenital disorder of glycosylation type 1K (C535749)
| .. Congenital disorder of glycosylation type 1L (C535750)
| .. Congenital disorder of glycosylation type 1X (C535751)
| .. Congenital disorder of glycosylation type 2A (C535752)
| .. Congenital disorder of glycosylation type 2D (C535753)
| .. Congenital disorder of glycosylation type 2E (C535754)
| .. Congenital disorder of glycosylation type II (C535747)
| .. Congenital disorder of glycosylation, type 2C (C535755)
| .. Congenital disorder of glycosylation, type 2G (C535756)
| .. Congenital Disorder Of Glycosylation, Type I-IIX (C562844)
| .. CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa (OMIM:617082)
| .. Congenital Disorder Of Glycosylation, Type IIB (C565264)
| .. Congenital Disorder Of Glycosylation, Type IIF (C567040)
| .. Congenital Disorder Of Glycosylation, Type IIH (C566987)
| .. CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi (OMIM:613612)
| .. Congenital Disorder Of Glycosylation, Type IIID (C564625)
| .. CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj (OMIM:613489)
| .. CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk (OMIM:614727)
| .. CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
| .. CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm (OMIM:300896)
| .. CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn (OMIM:616721)
| .. CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo (OMIM:616828)
| .. CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp (OMIM:616829)
| .. CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq (OMIM:617395)
| .. Congenital Disorder Of Glycosylation, Type Im (C563666)
| .. Congenital Disorder Of Glycosylation, Type In (C567437)
| .. Congenital Disorder of Glycosylation, Type Io (C567857)
| .. CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip (OMIM:613661)
| .. CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq (OMIM:612379)
| .. CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ir (OMIM:614507)
| .. CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu (OMIM:615042)
| .. CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw (OMIM:615596)
| .. CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix (OMIM:615597)
| .. CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy (OMIM:300934)
| .. NGLY1 deficiency (C000626124)
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD
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Term ID: | 2887 |
Name: | CONGENITAL DISORDER OF DEGLYCOSYLATION |
Definition: | |
Alternative IDs: | DO:DOID:0060728 |
ParentIDs: | MESH:D018981 |
TreeNumbers: | C16.320.565.202.125/615273 |C18.452.648.202.125/615273 |
Synonyms: | CDDG |CDG1V, FORMERLY |CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iv, FORMERLY |
Slim Mappings: | Genetic disease (inborn)|Metabolic disease |
Reference: |
MedGen: 615273
MeSH: 615273
OMIM: 615273; MSeqDR : Genes: NGLY1; | Phenotypes | | Disease Causing ClinVar Variants | | MSeqDR Portal | |
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