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English
Neonatal adrenoleukodystrophy
medical condition
neonatal adrenoleukodystrophy
NALD
Adrenoleukodystrophy autosomal neonatal form
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Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
peroxisomal disease
0 references
Zellweger spectrum disorder
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0018598
eye degenerative disease
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0018598
genetic association
PEX11B
1 reference
stated in
A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene.
PEX16
1 reference
stated in
Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene
PEX6
1 reference
stated in
The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6.
PEX26
1 reference
stated in
The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes
PEX13
1 reference
stated in
PEX13 is mutated in complementation group 13 of the peroxisome-biogenesis disorders
PEX10
1 reference
stated in
Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders
PEX1
1 reference
stated in
Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders
PEX2
1 reference
stated in
Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders
NCI Thesaurus ID
C99251
0 references
C99251
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0018598
exact match
http://www.orpha.net/ORDO/Orphanet_44
0 references
Identifiers
KEGG ID
H00177
0 references
Encyclopædia Britannica Online ID
topic/neonatal-adrenoleukodystrophy
subject named as
neonatal adrenoleukodystrophy
0 references
GARD rare disease ID
559
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0018598
ICD-10-CM
E71.511
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0018598
E71.3
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0018598
ICD-11 (foundation)
478178009
0 references
Microsoft Academic ID
2781451581
0 references
Mondo ID
MONDO_0018598
0 references
OMIM ID
202370
0 references
617370
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0018598
Orphanet ID
44
0 references
44
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0018598
SNOMED CT ID
238061001
1 reference
imported from Wikimedia project
English Wikipedia
Wikimedia import URL
https://en.wikipedia.org/w/index.php?title=Neonatal_adrenoleukodystrophy&oldid=948389079
UMLS CUI
C0282525
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0018598
WikiProjectMed ID
Neonatal adrenoleukodystrophy
0 references
Sitelinks
Wikipedia
(1 entry)
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enwiki
Neonatal adrenoleukodystrophy
Wikibooks
(0 entries)
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Wikinews
(0 entries)
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Wikiquote
(0 entries)
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Wikisource
(0 entries)
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Wikiversity
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Wikivoyage
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Wiktionary
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Multilingual sites
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