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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:Neu-Laxova syndrome
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Accession:EFO:MONDO:0000179 term browser browse the term
Definition:Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterized by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.
Synonyms:exact_synonym: NCIT:C14089;   Orphanet:2671;   http://identifiers.org/medgen/78537;   http://identifiers.org/mesh/C536405;   http://identifiers.org/snomedct/77817004;   http://linkedlifedata.com/resource/umls/id/C0265218;   http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/893358230;   https://omim.org/phenotypicSeries/PS256520;   nuclear localization signal
 related_synonym: NLS
 alt_id: MONDO:0000179
 xref: GARD:102;   ICD9:759.89;   MEDGEN:78537;   MESH:C536405;   MIM:PS256520;   NCI:C14089;   ORDO:2671;   SCTID:77817004;   UMLS:C0265218;   icd11.foundation:893358230


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          integumentary system disease 0
            Neu-Laxova syndrome 0
              Neu-Laxova syndrome 1 0
              Neu-Laxova syndrome 2 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            inborn errors of metabolism 0
              inborn disorder of amino acid metabolism 0
                inborn disorder of serine family metabolism 0
                  inborn serine deficiency 0
                    neurometabolic disorder due to serine deficiency 0
                      3-phosphoglycerate dehydrogenase deficiency 0
                        Neu-Laxova syndrome 0
                          Neu-Laxova syndrome 1 0
                          Neu-Laxova syndrome 2 0
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