Neu-Laxova syndrome 1 - Ontology Report

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	Neu-Laxova syndrome 1	go back to main search page
Accession:	DOID:0080076	browse the term
Definition:	A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia, and has_material_basis_in autosomal recessive inheritance of mutation in the PHGDH gene on chromosome 1p12, causing issues producing the amino acid serine. (DO)
Synonyms:	exact_synonym:	NLS
	narrow_synonym:	NLS1
	primary_id:	MESH:C536405; RDO:0001986
	alt_id:	OMIM:256520

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Genes (2)

Neu-Laxova syndrome 1

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Phgdh

3-phosphoglycerate dehydrogenase

ISO

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neu-Laxova syndrome 1

OMIM
CTD
ClinVar

PMID:9536098 PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 More...

NCBI chr 3:98,220,487...98,247,285
Ensembl chr 3:98,220,486...98,247,306

Psat1

phosphoserine aminotransferase 1

ISO

CTD Direct Evidence: marker/mechanism

CTD

NCBI chr19:15,882,487...15,902,423
Ensembl chr19:15,882,042...15,924,701

Term paths to the root

Path 1
Term	Annotations
disease	18301
physical disorder	5001
congenital nervous system abnormality	1500
microcephaly	1131
Neu-Laxova syndrome 1	2
Path 2
Term	Annotations
disease	18301
Developmental Disease	17912
Congenital, Hereditary, and Neonatal Diseases and Abnormalities	17782
genetic disease	17756
monogenic disease	10362
autosomal genetic disease	9535
autosomal dominant disease	6266
complex cortical dysplasia with other brain malformations	1600
Malformations of Cortical Development, Group I	1382
microcephaly	1131
Neu-Laxova syndrome 1	2

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Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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RGD DISEASE ONTOLOGY - ANNOTATIONS