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Peters plus syndrome - Ontology Report - Rat Genome Database

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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:Peters plus syndrome
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Accession:EFO:MONDO:0009856 term browser browse the term
Definition:An autosomal recessively inherited syndromic developmental defect of the eye characterized by a variable phenotype including Peters anomaly and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism.
Synonyms:exact_synonym: DOID:0080201;   Krause-Kivlin syndrome;   Krause-van Schooneveld-Kivlin syndrome;   NCIT:C123436;   Orphanet:709;   Peters anomaly-short limb dwarfism syndrome;   http://identifiers.org/medgen/163204;   http://identifiers.org/mesh/C537617;   http://identifiers.org/snomedct/449817000;   http://linkedlifedata.com/resource/umls/id/C0796012;   https://omim.org/entry/261540
 related_synonym: Peters anomaly with short-limb dwarfism
 alt_id: MONDO:0009856
 xref: DOID:0070312;   DOID:0080201;   GARD:8422;   ICD9:743.44;   MEDGEN:163204;   MESH:C537617;   MIM:261540;   NCI:C123436;   ORDO:709;   SCTID:449817000;   UMLS:C0796012
 see_also: https://rarediseases.info.nih.gov/diseases/8422/peters-plus-syndrome" xsd:anyURI {source="GARD:0008422

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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          syndromic disease 0
            Peters plus syndrome 0
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  experimental factor 0
    material property 0
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            inborn errors of metabolism 0
              congenital disorder of glycosylation 0
                disorder of protein O-glycosylation 0
                  disorder of fucoglycosan synthesis 0
                    Peters plus syndrome 0
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