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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:17-beta hydroxysteroid dehydrogenase 3 deficiency
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Accession:DOID:0112248 term browser browse the term
Definition:A pseudohermaphroditism characterized by undermasculinization in males including hypoplastic-to-normal internal genitalia with female external genitalia and the absence of a prostate, impaired testicular synthesis of testosterone resulting in insufficient formation of dihydrotestosterone during fetal development and resulting in pseudohermaphroditism in males that has_material_basis_in homozygous or compound heterozygous mutation of the HSD17B3 gene on chromosome 9q22. (DO)
Synonyms:exact_synonym: 17-Beta Hydroxysteroid Dehydrogenase III Deficiency;   17-Hydroxysteroid Dehydrogenase Deficiency;   17-Ketosteroid Reductase Deficiency Of Testis;   17-Ksr Deficiency;   17-alpha ketosteroid reductase deficiency of testis;   17-beta-hydroxysteroid dehydrogenase deficiency;   17-ketoreductase deficiency;   17-ketosteroidreductase deficiency;   46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency;   Male pseudohermaphroditism with gynecomastia;   neutral 17-beta-hydroxysteroid oxidoreductase deficiency
 narrow_synonym: PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA POLYCYSTIC OVARIAN DISEASE DUE TO 17-KETOSTEROID REDUCTASE DEFICIENCY
 related_synonym: TESTOSTERONE 17-BETA-DEHYDROGENASE DEFICIENCY
 alt_id: DOID:9005168
 xref: GARD:5659;   MESH:C537805;   MIM:264300;   MONDO:0009916;   NCI:C120203;   ORDO:752


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17-beta hydroxysteroid dehydrogenase 3 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: 17 alpha ketosteroid reductase deficiency of testis ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 9:50,706,852...50,856,691
Ensembl chr 9:50,770,277...50,854,728 		JBrowse link
G HSD17B3 hydroxysteroid 17-beta dehydrogenase 3 ISO ClinVar Annotator: match by term: Testosterone 17-beta-dehydrogenase deficiency OMIM
ClinVar		 PMID:598011 PMID:2918056 PMID:3066852 PMID:8075637 PMID:8550739 More... NCBI chr 1:70,551,013...70,586,364
Ensembl chr 1:70,487,334...70,586,368 		JBrowse link
D-bifunctional protein deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAT1 BRCA1 associated ATM activator 1 ISO ClinVar Annotator: match by term: DBP deficiency ClinVar PMID:16385454 PMID:20301500 PMID:22279524 PMID:23035047 PMID:27480663 More...
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 severity ISO ClinVar Annotator: match by term: Bifunctional peroxisomal enzyme deficiency | ClinVar Annotator: match by term: D-bifunctional protein deficiency | ClinVar Annotator: match by term: DBP deficiency
DNA:mutations:multiple (human)		 OMIM
ClinVar
RGD		 PMID:2868085 PMID:2882519 PMID:2921319 PMID:8279468 PMID:9345094 More... RGD:10411884 NCBI chr11:8,717,182...8,810,716
Ensembl chr11:8,717,349...8,824,594 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15721
    sensory system disease 6986
      skin disease 4098
        breast disease 1429
          gynecomastia 11
            17-beta hydroxysteroid dehydrogenase 3 deficiency 4
              D-bifunctional protein deficiency 2
Path 2
Term Annotations click to browse term
  disease 15721
    disease of anatomical entity 15367
      nervous system disease 13480
        Neurologic Manifestations 9959
          sensory system disease 6986
            skin disease 4098
              breast disease 1429
                gynecomastia 11
                  17-beta hydroxysteroid dehydrogenase 3 deficiency 4
                    D-bifunctional protein deficiency 2
paths to the root