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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 2
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Accession:DOID:0080075 term browser 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 PSAT1 gene on chromosome 9q21.1, causing issues producing the amino acid serine. (DO)
Synonyms:broad_synonym: PSAT1-RELATED CONDITION;   PSAT1-RELATED DISORDER
 primary_id: MIM:616038
 alt_id: RDO:9003580


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Neu-Laxova syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP78 centrosomal protein 78 ISO ClinVar Annotator: match by term: Neu-Laxova syndrome 2 ClinVar PMID:17436247 PMID:25152457 PMID:28492532 NCBI chr 1:231,081,157...231,113,065
Ensembl chr 1:231,081,196...231,115,940 		JBrowse link
G GNA14 G protein subunit alpha 14 ISO ClinVar Annotator: match by term: Neu-Laxova syndrome 2 ClinVar PMID:17436247 PMID:25152457 PMID:28492532 NCBI chr 1:230,341,947...230,545,123
Ensembl chr 1:230,341,942...230,546,120 		JBrowse link
G GNAQ G protein subunit alpha q ISO ClinVar Annotator: match by term: Neu-Laxova syndrome 2 ClinVar PMID:17436247 PMID:25152457 PMID:28492532 NCBI chr 1:230,607,469...230,906,988
Ensembl chr 1:230,605,265...230,907,674 		JBrowse link
G PSAT1 phosphoserine aminotransferase 1 ISO ClinVar Annotator: match by term: Neu-Laxova syndrome 2 | ClinVar Annotator: match by term: PSAT1-related disorder OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17436247 PMID:17576681 PMID:25152457 More... NCBI chr 1:231,142,673...231,172,364
Ensembl chr 1:231,142,625...231,172,360 		JBrowse link
G VPS13A vacuolar protein sorting 13 homolog A ISO ClinVar Annotator: match by term: Neu-Laxova syndrome 2 ClinVar PMID:17436247 PMID:25152457 PMID:28492532 NCBI chr 1:230,069,339...230,331,343
Ensembl chr 1:230,069,368...230,331,200 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15433
    Developmental Disease 13497
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12618
        Congenital Abnormalities 7624
          Multiple Abnormalities 3734
            Neu-Laxova syndrome 2 5
Path 2
Term Annotations click to browse term
  disease 15433
    Developmental Disease 13497
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12618
        genetic disease 12327
          inherited metabolic disorder 5855
            amino acid metabolic disorder 1556
              serine deficiency 20
                Neu-Laxova syndrome 2 5
paths to the root