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Term:Neu-Laxova syndrome 1
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Accession:DOID:0080076 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 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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Neu-Laxova syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phgdh phosphoglycerate dehydrogenase JBrowse link 2 200,484,245 200,513,564 RGD:7240710
G Psat1 phosphoserine aminotransferase 1 JBrowse link 1 233,124,089 233,145,941 RGD:11554173

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Path 1
Term Annotations click to browse term
  disease 14759
    sensory system disease 4231
      skin disease 2240
        ichthyosis 54
          Neu-Laxova syndrome 1 2
Path 2
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        Congenital Abnormalities 3137
          Nervous System Malformations 657
            complex cortical dysplasia with other brain malformations 416
              Malformations of Cortical Development, Group I 272
                microcephaly 208
                  Neu-Laxova syndrome 1 2
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