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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:de Barsy syndrome
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Accession:EFO:MONDO:0017569 term browser browse the term
Definition:A rare autosomal recessive genetic disorder characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.
Synonyms:exact_synonym: DOID:0070143;   Orphanet:2962;   cutis laxa-corneal clouding-intellectual disability syndrome;   http://identifiers.org/medgen/82794;   http://identifiers.org/mesh/C535990;   http://identifiers.org/snomedct/238826008;   http://linkedlifedata.com/resource/umls/id/C0268354
 related_synonym: autosomal recessive cutis laxa type III;   corneal clouding, cutis laxa and intellectual disability;   corneal clouding, cutis laxa and mental retardation;   cutis laxa growth deficiency syndrome;   progeroid syndrome of de Barsy;   progeroid syndrome, de Barsy type
 alt_id: MONDO:0017569
 xref: DOID:0070143;   GARD:49;   MEDGEN:82794;   MESH:C535990;   NORD:1034;   ORDO:2962;   PMID:18388779;   SCTID:238826008;   UMLS:C0268354


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          premature aging syndrome 0
            de Barsy syndrome 0
              ALDH18A1-related de Barsy syndrome 0
              PYCR1-related de Barsy syndrome 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            autosomal genetic disease 0
              autosomal recessive disease 0
                de Barsy syndrome 0
                  ALDH18A1-related de Barsy syndrome 0
                  PYCR1-related de Barsy syndrome 0
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