ONTOLOGY REPORT - ANNOTATIONS


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
RGD:8554872
G Psat1 phosphoserine aminotransferase 1 JBrowse link 1 233,124,089 233,145,941 RGD:11554173

Term paths to the root
Path 1
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  disease 14875
    sensory system disease 4246
      skin disease 2253
        ichthyosis 54
          Neu-Laxova syndrome 1 2
Path 2
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  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        Congenital Abnormalities 3150
          Nervous System Malformations 663
            complex cortical dysplasia with other brain malformations 420
              Malformations of Cortical Development, Group I 275
                microcephaly 208
                  Neu-Laxova syndrome 1 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.