MCID: PHS011
MIFTS: 3

Phosphomannoisomerase Deficiency

Categories: Rare diseases

Aliases & Classifications for Phosphomannoisomerase Deficiency

MalaCards integrated aliases for Phosphomannoisomerase Deficiency:

Name: Phosphomannoisomerase Deficiency 52

Classifications:



Summaries for Phosphomannoisomerase Deficiency

MalaCards based summary : Phosphomannoisomerase Deficiency

Wikipedia : 74 A congenital disorder of glycosylation (previously called carbohydrate-deficient glycoprotein syndrome)... more...

Related Diseases for Phosphomannoisomerase Deficiency

Symptoms & Phenotypes for Phosphomannoisomerase Deficiency

Drugs & Therapeutics for Phosphomannoisomerase Deficiency

Search Clinical Trials , NIH Clinical Center for Phosphomannoisomerase Deficiency

Genetic Tests for Phosphomannoisomerase Deficiency

Anatomical Context for Phosphomannoisomerase Deficiency

Publications for Phosphomannoisomerase Deficiency

Articles related to Phosphomannoisomerase Deficiency:

# Title Authors PMID Year
1
Detection of hypo-N-glycosylation using mass spectrometry of transferrin. 61
18428410 2007
2
Clinical approach to inherited metabolic disorders in neonates: an overview. 61
12069534 2002

Variations for Phosphomannoisomerase Deficiency

Expression for Phosphomannoisomerase Deficiency

Search GEO for disease gene expression data for Phosphomannoisomerase Deficiency.

Pathways for Phosphomannoisomerase Deficiency

GO Terms for Phosphomannoisomerase Deficiency

Sources for Phosphomannoisomerase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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