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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:primary_id: OMIM:616038
 alt_id: RDO:9003580
For additional species annotation, visit the Alliance of Genome Resources.


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Neu-Laxova syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Psat1 phosphoserine aminotransferase 1 JBrowse link 1 233,124,089 233,145,941 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        Congenital Abnormalities 3137
          Multiple Abnormalities 1267
            Neu-Laxova syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          inherited metabolic disorder 1807
            amino acid metabolic disorder 337
              serine deficiency 4
                Neu-Laxova syndrome 2 1
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