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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 deficiency;   17 alpha ketosteroid reductase deficiency of testis;   17-Beta Hydroxysteroid Dehydrogenase III Deficiency;   17-Hydroxysteroid Dehydrogenase Deficiency;   17-Ketosteroid Reductase Deficiency Of Testis;   17-Ksr 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
 primary_id: MESH:C537805
 alt_id: DOID:9005168;   OMIM:264300
 xref: GARD:5659;   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 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588 		JBrowse link
G Hsd17b3 hydroxysteroid (17-beta) dehydrogenase 3 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:264300
ClinVar Annotator: match by term: Testosterone 17-beta-dehydrogenase deficiency		 OMIM
CTD
MouseDO
ClinVar		 PMID:598011 PMID:2918056 PMID:3066852 PMID:8075637 PMID:8550739 More... NCBI chr17:1,027,229...1,058,554
Ensembl chr17:1,027,229...1,058,554 		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:22279524 PMID:23035047 PMID:28492532 NCBI chr12:13,928,889...13,951,760
Ensembl chr12:13,928,898...13,941,248 		JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 severity ISO
ISS		 ClinVar Annotator: match by term: Bifunctional peroxisomal enzyme deficiency | ClinVar Annotator: match by term: DBP deficiency
OMIM:261515
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:2868085 PMID:2882519 PMID:2921319 PMID:8279468 PMID:9345094 More... RGD:1599968, RGD:10411884 NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6939
      skin disease 3960
        breast disease 1384
          gynecomastia 10
            17-beta hydroxysteroid dehydrogenase 3 deficiency 4
              D-bifunctional protein deficiency 2
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13332
      Signs and Symptoms 10808
        Neurologic Manifestations 10040
          sensory system disease 6939
            skin disease 3960
              breast disease 1384
                gynecomastia 10
                  17-beta hydroxysteroid dehydrogenase 3 deficiency 4
                    D-bifunctional protein deficiency 2
paths to the root