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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:developmental anomaly of metabolic origin
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Accession:EFO:MONDO:0015327 term browser browse the term
Synonyms:alt_id: MONDO:0015327
 xref: GARD:19900;   MEDGEN:1826093;   ORDO:139009;   UMLS:C5680623


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Term paths to the root
Path 1
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          metabolic disease 0
            developmental anomaly of metabolic origin 0
              46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency 0
              AICA-ribosiduria 0
              ALDH18A1-related de Barsy syndrome 0
              B4GALT1-congenital disorder of glycosylation 0
              CADDS 0
              CHIME syndrome 0
              COG1-congenital disorder of glycosylation 0
              COG7-congenital disorder of glycosylation 0
              Cockayne syndrome + 0
              Ehlers-Danlos syndrome, musculocontractural type 0
              Ehlers-Danlos syndrome, spondylodysplastic type + 0
              Fabry disease 0
              Fanconi anemia + 0
              Larsen-like syndrome, B3GAT3 type 0
              MGAT2-congenital disorder of glycosylation 0
              Neu-Laxova syndrome + 0
              Nijmegen breakage syndrome 0
              Nijmegen breakage syndrome-like disorder 0
              Peters plus syndrome 0
              RFT1-congenital disorder of glycosylation 0
              SHORT syndrome 0
              SLC35A2-congenital disorder of glycosylation 0
              SLC39A8-CDG 0
              SSR4-congenital disorder of glycosylation 0
              Wiedemann-Rautenstrauch syndrome 0
              XYLT1-congenital disorder of glycosylation 0
              Zellweger spectrum disorders + 0
              arthrogryposis-renal dysfunction-cholestasis syndrome + 0
              autism spectrum disorder - epilepsy - arthrogryposis syndrome 0
              autosomal recessive cutis laxa type 2 + 0
              classic homocystinuria 0
              creatine transporter deficiency 0
              cutis laxa, autosomal dominant 3 0
              encephalopathy due to sulfite oxidase deficiency + 0
              glycosylphosphatidylinositol biosynthesis defect 15 0
              hyperphosphatasia-intellectual disability syndrome 0
              hypophosphatasia + 0
              inborn mitochondrial metabolism disorder + 0
              mandibuloacral dysplasia + 0
              mucolipidosis + 0
              mucopolysaccharidosis + 0
              mucopolysaccharidosis-plus syndrome 0
              mucosulfatidosis 0
              multiple congenital anomalies-hypotonia-seizures syndrome 1 0
              multiple congenital anomalies-hypotonia-seizures syndrome 2 0
              multiple congenital anomalies-hypotonia-seizures syndrome 3 0
              occipital horn syndrome 0
              oligosaccharidosis + 0
              permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome 0
              pontocerebellar hypoplasia type 1 0
              pseudohypoparathyroidism + 0
              sterol biosynthesis disorder + 0
              temtamy preaxial brachydactyly syndrome 0
              transketolase deficiency 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          disorder of development or morphogenesis 0
            developmental defect during embryogenesis 0
              developmental anomaly of metabolic origin 0
                46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency 0
                AICA-ribosiduria 0
                ALDH18A1-related de Barsy syndrome 0
                B4GALT1-congenital disorder of glycosylation 0
                CADDS 0
                CHIME syndrome 0
                COG1-congenital disorder of glycosylation 0
                COG7-congenital disorder of glycosylation 0
                Cockayne syndrome + 0
                Ehlers-Danlos syndrome, musculocontractural type 0
                Ehlers-Danlos syndrome, spondylodysplastic type + 0
                Fabry disease 0
                Fanconi anemia + 0
                Larsen-like syndrome, B3GAT3 type 0
                MGAT2-congenital disorder of glycosylation 0
                Neu-Laxova syndrome + 0
                Nijmegen breakage syndrome 0
                Nijmegen breakage syndrome-like disorder 0
                Peters plus syndrome 0
                RFT1-congenital disorder of glycosylation 0
                SHORT syndrome 0
                SLC35A2-congenital disorder of glycosylation 0
                SLC39A8-CDG 0
                SSR4-congenital disorder of glycosylation 0
                Wiedemann-Rautenstrauch syndrome 0
                XYLT1-congenital disorder of glycosylation 0
                Zellweger spectrum disorders + 0
                arthrogryposis-renal dysfunction-cholestasis syndrome + 0
                autism spectrum disorder - epilepsy - arthrogryposis syndrome 0
                autosomal recessive cutis laxa type 2 + 0
                classic homocystinuria 0
                creatine transporter deficiency 0
                cutis laxa, autosomal dominant 3 0
                encephalopathy due to sulfite oxidase deficiency + 0
                glycosylphosphatidylinositol biosynthesis defect 15 0
                hyperphosphatasia-intellectual disability syndrome 0
                hypophosphatasia + 0
                inborn mitochondrial metabolism disorder + 0
                mandibuloacral dysplasia + 0
                mucolipidosis + 0
                mucopolysaccharidosis + 0
                mucopolysaccharidosis-plus syndrome 0
                mucosulfatidosis 0
                multiple congenital anomalies-hypotonia-seizures syndrome 1 0
                multiple congenital anomalies-hypotonia-seizures syndrome 2 0
                multiple congenital anomalies-hypotonia-seizures syndrome 3 0
                occipital horn syndrome 0
                oligosaccharidosis + 0
                permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome 0
                pontocerebellar hypoplasia type 1 0
                pseudohypoparathyroidism + 0
                sterol biosynthesis disorder + 0
                temtamy preaxial brachydactyly syndrome 0
                transketolase deficiency 0
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