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.
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Hsd17b3
hydroxysteroid (17-beta) dehydrogenase 3
ISO
ClinVar Annotator: match by term: Pseudohermaphroditism
ClinVar
PMID:2918056 PMID:8075637 PMID:8550739 PMID:8626842 PMID:9536098 PMID:9758445 PMID:10599740 PMID:17509588 PMID:17576681 PMID:19498320 PMID:21214500 PMID:22212252 PMID:23295294 PMID:24025597 PMID:24033266 PMID:25525159 PMID:25740850 PMID:25741868 PMID:28492532 PMID:30668521 PMID:32297288 More...
NCBI chr17:1,027,229...1,058,554
Ensembl chr17:1,027,229...1,058,554
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Lhcgr
luteinizing hormone/choriogonadotropin receptor
ISO
ClinVar Annotator: match by term: Pseudohermaphroditism
ClinVar
NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
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Hsd17b3
hydroxysteroid (17-beta) dehydrogenase 3
ISO
ClinVar Annotator: match by term: Testosterone 17-beta-dehydrogenase deficiency CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:598011 PMID:2918056 PMID:8075637 PMID:8550739 PMID:8626842 PMID:9467575 PMID:9536098 PMID:9709959 PMID:9758445 PMID:10599740 PMID:11158067 PMID:17509588 PMID:17576681 PMID:19498320 PMID:21214500 PMID:22212252 PMID:23295294 PMID:24025597 PMID:24033266 PMID:25525159 PMID:25526675 PMID:25740850 PMID:25741868 PMID:28492532 PMID:30668521 PMID:32297288 More...
NCBI chr17:1,027,229...1,058,554
Ensembl chr17:1,027,229...1,058,554
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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
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Hsd17b4
hydroxysteroid (17-beta) dehydrogenase 4
severity
ISO
ClinVar Annotator: match by term: Bifunctional peroxisomal enzyme deficiency | ClinVar Annotator: match by term: DBP deficiency DNA:mutations:multiple (human)
ClinVar OMIM RGD
PMID:2868085 PMID:2882519 PMID:2921319 PMID:8279468 PMID:9345094 PMID:9482850 PMID:9536098 PMID:9915948 PMID:10400999 PMID:10419023 PMID:10497229 PMID:10671535 PMID:10748062 PMID:11330053 PMID:11743515 PMID:11810648 PMID:11992265 PMID:12562856 PMID:16199547 PMID:16385454 PMID:17576681 PMID:20673864 PMID:22507161 PMID:22864515 PMID:23100014 PMID:23181892 PMID:23308274 PMID:23332201 PMID:24033266 PMID:24108619 PMID:24553428 PMID:24602372 PMID:25741868 PMID:25882080 PMID:25967389 PMID:26243799 PMID:26467025 PMID:26970254 PMID:27243974 PMID:27290639 PMID:27528516 PMID:27650058 PMID:27790638 PMID:28017249 PMID:28492532 PMID:28649525 PMID:28830375 PMID:28973083 PMID:30396834 PMID:31455392 PMID:9345094 PMID:16385454 More...
RGD:1599968 , RGD:10411884
NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952
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Lhcgr
luteinizing hormone/choriogonadotropin receptor
ISO
ClinVar Annotator: match by term: HYPERGONADOTROPIC HYPOGONADISM, MALE, DUE TO LHCGR DEFECT | ClinVar Annotator: match by term: Leydig cell agenesis | ClinVar Annotator: match by term: Luteinizing hormone resistance, female CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:7527413 PMID:7562970 PMID:7581384 PMID:7692306 PMID:7714085 PMID:7719343 PMID:7757065 PMID:7892197 PMID:8559204 PMID:8855841 PMID:8923827 PMID:8943222 PMID:9514160 PMID:9626144 PMID:9703386 PMID:9817592 PMID:11849253 PMID:12050206 PMID:15372531 PMID:15472221 PMID:16123233 PMID:21490077 PMID:23861372 PMID:25741868 PMID:25741869 PMID:26040673 PMID:26467025 PMID:28492532 PMID:30283825 More...
NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
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Lhcgr
luteinizing hormone/choriogonadotropin receptor
ISS ISO
OMIM:238320 ClinVar Annotator: match by term: Leydig cell hypoplasia, type 1 | ClinVar Annotator: match by term: Leydig hypoplasia, type I
MouseDO ClinVar
PMID:7527413 PMID:7562970 PMID:7692306 PMID:7714085 PMID:7757065 PMID:7892197 PMID:8559204 PMID:8855841 PMID:8943222 PMID:9703386 PMID:21490077 PMID:23861372 PMID:25741868 PMID:26040673 PMID:26467025 PMID:28492532 PMID:30283825 More...
NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
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Lhcgr
luteinizing hormone/choriogonadotropin receptor
ISO
ClinVar Annotator: match by term: Leydig cell hypoplasia, type II
ClinVar
PMID:9215288 PMID:9626653 PMID:10852464
NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
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Amh
anti-Mullerian hormone
ISO
ClinVar Annotator: match by term: Persistent Mullerian duct syndrome | ClinVar Annotator: match by term: Persistent mullerian duct syndrome, type I
OMIM ClinVar
PMID:1483695 PMID:1809231 PMID:2023927 PMID:2562843 PMID:11760020 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28528332 PMID:30668521 More...
NCBI chr 7:8,906,776...8,909,184
Ensembl chr 7:8,906,836...8,909,282
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Amhr2
anti-Mullerian hormone receptor type 2
ISO
ClinVar Annotator: match by term: Persistent Mullerian duct syndrome | ClinVar Annotator: match by term: Persistent mullerian duct syndrome, type II
OMIM ClinVar
PMID:7493017 PMID:8872466 PMID:11549681 PMID:19457927 PMID:24033266 PMID:28492532 More...
NCBI chr 7:133,579,152...133,588,874
Ensembl chr 7:133,579,393...133,588,258
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