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ONTOLOGY REPORT - ANNOTATIONS


Term:D-bifunctional protein deficiency
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Accession:DOID:0090031 term browser browse the term
Definition:A peroxisomal disease characterized by, in severe cases, infantile-onset of hypotonia, seizures, and abnormal facial features with most dieing before age 2 years that has_material_basis_in homozygous or compound heterozygous mutation in the HSD17B4 gene on chromosome 5q2. (DO)
Synonyms:exact_synonym: 17-BETA-HYDROXYSTEROID DEHYDROGENASE IV DEFICIENCY;   DBP deficiency;   PBFE DEFICIENCY;   PEROXISOMAL BIFUNCTIONAL ENZYME DEFICIENCY
 primary_id: OMIM:261515
 alt_id: RDO:0012125
 xref: GARD:4539;   ORDO:300
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D-bifunctional protein deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 JBrowse link 18 44,810,462 44,897,677 RGD:1599968
RGD:7240710
RGD:10411884

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Path 1
Term Annotations click to browse term
  disease 15553
    Nutritional and Metabolic Diseases 4392
      disease of metabolism 4392
        lipid metabolism disorder 741
          D-bifunctional protein deficiency 1
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        sensory system disease 4596
          Otorhinolaryngologic Diseases 1078
            auditory system disease 686
              Hearing Disorders 570
                Hearing Loss 566
                  Deafness 251
                    Perrault syndrome 7
                      Gonadal Dysgenesis, XX Type, with Deafness 2
                        D-bifunctional protein deficiency 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.