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 53 49

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
cerebral sclerosis similar to pelizaeus-merzbacher disease:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 213900
MedGen 39 C1859258
SNOMED-CT via HPO 65 258211005 88425004

Summaries for Cerebral Sclerosis Similar to Pelizaeus-Merzbacher Disease

MalaCards based summary : Cerebral Sclerosis Similar to Pelizaeus-Merzbacher Disease and has symptoms including 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:

53
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:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of the nervous system 31 HP:0000707
2 abnormality of metabolism/homeostasis 31 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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