MCID: CRB075
MIFTS: 8

Cerebral Sclerosis Similar to Pelizaeus-Merzbacher Disease

Categories: Rare diseases

Aliases & Classifications for Cerebral Sclerosis Similar to Pelizaeus-Merzbacher Disease

MalaCards integrated aliases for Cerebral Sclerosis Similar to Pelizaeus-Merzbacher Disease:

Name: Cerebral Sclerosis Similar to Pelizaeus-Merzbacher Disease 57 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
cerebral sclerosis similar to pelizaeus-merzbacher disease:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 213900
MedGen 42 C1859258
SNOMED-CT via HPO 69 258211005 88425004

Summaries for Cerebral Sclerosis Similar to Pelizaeus-Merzbacher Disease

MalaCards based summary : Cerebral Sclerosis Similar to Pelizaeus-Merzbacher Disease Related phenotypes are abnormality of the nervous system and abnormality of metabolism/homeostasis

Description from OMIM: 213900

Related Diseases for Cerebral Sclerosis Similar to Pelizaeus-Merzbacher Disease

Symptoms & Phenotypes for Cerebral Sclerosis Similar to Pelizaeus-Merzbacher Disease

Symptoms via clinical synopsis from OMIM:

57
Neuro:
cerebral sclerosis

Lab:
rod-shaped bodies in sural nerve schwann cells on electron microscopy


Clinical features from OMIM:

213900

Human phenotypes related to Cerebral Sclerosis Similar to Pelizaeus-Merzbacher Disease:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of the nervous system 32 HP:0000707
2 abnormality of metabolism/homeostasis 32 HP:0001939

Drugs & Therapeutics for Cerebral Sclerosis Similar to Pelizaeus-Merzbacher Disease

Search Clinical Trials , NIH Clinical Center for Cerebral Sclerosis Similar to Pelizaeus-Merzbacher Disease

Genetic Tests for Cerebral Sclerosis Similar to Pelizaeus-Merzbacher Disease

Anatomical Context for Cerebral Sclerosis Similar to Pelizaeus-Merzbacher Disease

Publications for Cerebral Sclerosis Similar to Pelizaeus-Merzbacher Disease

Variations for Cerebral Sclerosis Similar to Pelizaeus-Merzbacher Disease

Expression for Cerebral Sclerosis Similar to Pelizaeus-Merzbacher Disease

Search GEO for disease gene expression data for Cerebral Sclerosis Similar to Pelizaeus-Merzbacher Disease.

Pathways for Cerebral Sclerosis Similar to Pelizaeus-Merzbacher Disease

GO Terms for Cerebral Sclerosis Similar to Pelizaeus-Merzbacher Disease

Sources for Cerebral Sclerosis Similar to Pelizaeus-Merzbacher Disease

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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