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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:syndromic dyslipidemia
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Accession:EFO:MONDO:0015905 term browser browse the term
Definition:A inherited lipid metabolism disorder that is part of a larger syndrome.
Synonyms:exact_synonym: complex dyslipidaemia;   complex dyslipidemia;   syndrome associated with inherited lipid metabolism disorder;   syndromic inherited lipid metabolism disorder
 related_synonym: rare syndromic dyslipidaemia;   rare syndromic dyslipidemia
 alt_id: MONDO:0015905
 xref: GARD:20232;   MEDGEN:1826171;   ORDO:181437;   SCTID:109041000119107;   UMLS:C5680608


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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
          syndromic disease 0
            syndromic dyslipidemia 0
              Barth syndrome 0
              CHILD syndrome 0
              CHIME syndrome 0
              GM1 gangliosidosis type 1 0
              Krabbe disease due to saposin A deficiency 0
              PHARC syndrome 0
              Sjogren-Larsson syndrome 0
              Smith-Lemli-Opitz syndrome 0
              apparent mineralocorticoid excess 0
              cerebrotendinous xanthomatosis 0
              congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome 0
              familial apolipoprotein C-II deficiency 0
              familial lipoprotein lipase deficiency 0
              fatty acid hydroxylase-associated neurodegeneration 0
              hereditary spastic paraplegia 39 0
              hyperphosphatasia-intellectual disability syndrome 0
              intellectual disability, autosomal recessive 53 0
              lipoprotein glomerulopathy 0
              lysosomal acid lipase deficiency + 0
              mevalonate kinase deficiency + 0
              multiple congenital anomalies-hypotonia-seizures syndrome 2 0
              neuronal ceroid lipofuscinosis 8 northern epilepsy variant 0
              peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain + 0
              rhizomelic chondrodysplasia punctata type 1 0
              sea-blue histiocyte syndrome 0
              sitosterolemia 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
              inherited lipid metabolism disorder 0
                syndromic dyslipidemia 0
                  Barth syndrome 0
                  CHILD syndrome 0
                  CHIME syndrome 0
                  GM1 gangliosidosis type 1 0
                  Krabbe disease due to saposin A deficiency 0
                  PHARC syndrome 0
                  Sjogren-Larsson syndrome 0
                  Smith-Lemli-Opitz syndrome 0
                  apparent mineralocorticoid excess 0
                  cerebrotendinous xanthomatosis 0
                  congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome 0
                  familial apolipoprotein C-II deficiency 0
                  familial lipoprotein lipase deficiency 0
                  fatty acid hydroxylase-associated neurodegeneration 0
                  hereditary spastic paraplegia 39 0
                  hyperphosphatasia-intellectual disability syndrome 0
                  intellectual disability, autosomal recessive 53 0
                  lipoprotein glomerulopathy 0
                  lysosomal acid lipase deficiency + 0
                  mevalonate kinase deficiency + 0
                  multiple congenital anomalies-hypotonia-seizures syndrome 2 0
                  neuronal ceroid lipofuscinosis 8 northern epilepsy variant 0
                  peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain + 0
                  rhizomelic chondrodysplasia punctata type 1 0
                  sea-blue histiocyte syndrome 0
                  sitosterolemia 0
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