MCID: PLZ008
MIFTS: 7

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 59
Transitional Pmd 59

Characteristics:

Orphanet epidemiological data:

59
pelizaeus-merzbacher disease, transitional form
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Europe); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA280224
UMLS via Orphanet 74 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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