MCID: PLZ008
MIFTS: 6

Pelizaeus-Merzbacher Disease, Transitional Form

Categories: Neuronal diseases, Eye diseases, Rare diseases

Aliases & Classifications for Pelizaeus-Merzbacher Disease, Transitional Form

MalaCards integrated aliases for Pelizaeus-Merzbacher Disease, Transitional Form:

Name: Pelizaeus-Merzbacher Disease, Transitional Form 56
Transitional Pmd 56

Characteristics:

Orphanet epidemiological data:

56
pelizaeus-merzbacher disease, transitional form
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Europe); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 56 ORPHA280224
UMLS via Orphanet 70 C0751917
ICD10 via Orphanet 34 E75.2

Summaries for Pelizaeus-Merzbacher Disease, Transitional Form

MalaCards based summary : Pelizaeus-Merzbacher Disease, Transitional Form, is also known as transitional pmd. An important gene associated with Pelizaeus-Merzbacher Disease, Transitional Form is PLP1 (Proteolipid Protein 1). Affiliated tissues include eye.

Related Diseases for Pelizaeus-Merzbacher Disease, Transitional Form

Symptoms & Phenotypes for Pelizaeus-Merzbacher Disease, Transitional Form

Drugs & Therapeutics for Pelizaeus-Merzbacher Disease, Transitional Form

Search Clinical Trials , NIH Clinical Center for Pelizaeus-Merzbacher Disease, Transitional Form

Genetic Tests for Pelizaeus-Merzbacher Disease, Transitional Form

Anatomical Context for Pelizaeus-Merzbacher Disease, Transitional Form

MalaCards organs/tissues related to Pelizaeus-Merzbacher Disease, Transitional Form:

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Eye

Publications for Pelizaeus-Merzbacher Disease, Transitional Form

Variations for Pelizaeus-Merzbacher Disease, Transitional Form

Expression for Pelizaeus-Merzbacher Disease, Transitional Form

Search GEO for disease gene expression data for Pelizaeus-Merzbacher Disease, Transitional Form.

Pathways for Pelizaeus-Merzbacher Disease, Transitional Form

GO Terms for Pelizaeus-Merzbacher Disease, Transitional Form

Sources for Pelizaeus-Merzbacher Disease, Transitional Form

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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