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Neu-Laxova syndrome 1
Human disease
NLS1
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Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
serine deficiency
1 reference
stated in
Disease Ontology
retrieved
18 January 2022
Disease Ontology ID
DOID:0080076
Neu-Laxova syndrome
0 references
symptoms and signs
ptosis
1 reference
stated in
Disease Ontology
retrieved
24 November 2020
Disease Ontology ID
DOID:0080076
genetic association
PHGDH
1 reference
stated in
Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH.
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0080076
1 reference
stated in
Disease Ontology
retrieved
18 January 2022
Disease Ontology ID
DOID:0080076
http://identifiers.org/doid/DOID:0080076
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
Disease Ontology ID
DOID:0080076
1 reference
stated in
Disease Ontology
retrieved
18 January 2022
Disease Ontology ID
DOID:0080076
Mondo ID
MONDO_0009736
0 references
OMIM ID
256520
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0080076
UniProt disease ID
DI-04141
0 references
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