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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:progeroid syndrome
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Accession:DOID:0081332 term browser browse the term
Definition:A syndrome that is characterized by the premature onset of age-related pathologies. (DO)
Synonyms:exact_synonym: progeroid disease;   progeroid syndromes
 xref: MIM:PS176670


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Congenital Progeroid Syndrome, Petty Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a24 solute carrier family 25 member 24 ISO ClinVar Annotator: match by term: Fontaine progeroid syndrome OMIM
ClinVar		 PMID:10215548 PMID:10594888 PMID:19731360 PMID:21216154 PMID:25741868 More... NCBI chr 2:196,761,076...196,799,236
Ensembl chr 2:196,761,274...196,799,231 		JBrowse link
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pold1 DNA polymerase delta 1, catalytic subunit ISO ClinVar Annotator: match by term: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23770608 PMID:24033266 PMID:25529843 More... NCBI chr 1:95,025,462...95,041,559
Ensembl chr 1:95,025,499...95,036,465 		JBrowse link
Mandibuloacral Dysplasia Progeroid Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtx2 metaxin 2 ISO ClinVar Annotator: match by term: Mandibuloacral dysplasia progeroid syndrome | ClinVar Annotator: match by term: Progeroid mandibuloacral dysplasia OMIM
ClinVar		 PMID:25741868 PMID:32917887 NCBI chr 3:59,730,206...59,792,202
Ensembl chr 3:59,730,197...59,792,201 		JBrowse link
MARBACH-RUSTAD PROGEROID SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lemd2 LEM domain nuclear envelope protein 2 ISO ClinVar Annotator: match by term: LEMD2-related condition | ClinVar Annotator: match by term: Marbach-Rustad progeroid syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30905398 NCBI chr20:5,282,397...5,296,621
Ensembl chr20:5,282,397...5,296,626 		JBrowse link
Nestor-Guillermo progeria syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Banf1 barrier to autointegration nuclear assembly factor 1 ISO ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome OMIM
ClinVar		 PMID:21549337 PMID:23720404 PMID:25741868 PMID:28492532 NCBI chr 1:202,672,170...202,674,215
Ensembl chr 1:202,671,305...202,674,188 		JBrowse link
G Eif1ad eukaryotic translation initiation factor 1A domain containing ISO ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome ClinVar NCBI chr 1:202,674,362...202,679,662
Ensembl chr 1:202,674,185...202,679,658 		JBrowse link
Penttinen-Aula Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdgfrb platelet derived growth factor receptor beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Premature aging syndrome, Penttinen type		 OMIM
CTD
ClinVar		 PMID:9056558 PMID:9536098 PMID:15054839 PMID:16199547 PMID:17576681 More... NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843 		JBrowse link
progeria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank3 ankyrin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27217151 NCBI chr20:18,602,267...19,225,831
Ensembl chr20:18,602,786...19,086,300 		JBrowse link
G Eef1e1 eukaryotic translation elongation factor 1 epsilon 1 ISO RGD PMID:20726853 RGD:10401221 NCBI chr17:26,148,652...26,159,358
Ensembl chr17:26,148,633...26,215,720 		JBrowse link
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: Hutchinson-Gilford syndrome ClinVar PMID:8797827 PMID:9579555 PMID:20221251 PMID:21228398 PMID:21612988 More... NCBI chr10:2,416,259...2,448,364
Ensembl chr10:2,419,038...2,448,369
Ensembl chr10:2,419,038...2,448,369 		JBrowse link
G Gh1 growth hormone 1 treatment ISO RGD PMID:20805469 PMID:20805469 RGD:10003141, RGD:10003141 NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078 		JBrowse link
G Igf1 insulin-like growth factor 1 treatment ISO RGD PMID:20805469 RGD:10003141 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Lmna lamin A/C ISO
ISS		 ClinVar Annotator: match by term: Hutchinson-Gilford progeria syndrome, atypical | ClinVar Annotator: match by term: Hutchinson-Gilford syndrome
OMIM:176670
CTD Direct Evidence: marker/mechanism
DNA:silent mutation:cds:c.1824C>T (human)
DNA:missense mutations, silent mutation:cds:multiple
DNA:missense mutation:exon:p.K542N (1626G>C) human
DNA:missense mutations:cds:multiple		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:262236 PMID:1849984 PMID:2007407 PMID:2733290 PMID:9500556 More... RGD:12791022, RGD:10003159, RGD:10003158, RGD:10003156, RGD:10003154, RGD:737720 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Pycr1 pyrroline-5-carboxylate reductase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19648921 NCBI chr10:105,917,732...105,922,658
Ensembl chr10:105,917,680...105,922,549 		JBrowse link
G Sirt6 sirtuin 6 ISS OMIM:176670 MouseDO NCBI chr 7:8,082,312...8,087,776
Ensembl chr 7:8,082,364...8,098,914 		JBrowse link
G Sprtn SprT-like N-terminal domain ISO CTD Direct Evidence: marker/mechanism CTD PMID:25261934 NCBI chr19:52,857,612...52,864,864
Ensembl chr19:52,857,866...52,864,864 		JBrowse link
G Sun1 Sad1 and UNC84 domain containing 1 severity ISO RGD PMID:22541428 RGD:10044242 NCBI chr12:15,396,378...15,441,277
Ensembl chr12:15,396,381...15,441,571 		JBrowse link
G Vcpip1 valosin containing protein interacting protein 1 ISS OMIM:176670 MouseDO NCBI chr 5:9,534,247...9,560,889
Ensembl chr 5:9,534,129...9,562,040 		JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:176670		 CTD
MouseDO		 PMID:23217256 NCBI chr 5:134,627,218...134,660,360
Ensembl chr 5:134,627,229...134,660,110 		JBrowse link
Progeria Syndrome, Childhood-Onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Hutchinson-Gilford progeria syndrome, childhood-onset ClinVar PMID:11015599 PMID:11503164 PMID:11792811 PMID:12629077 PMID:12927431 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
RECON PROGEROID SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1 ISO ClinVar Annotator: match by term: RECQL-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:175,292,124...175,311,143
Ensembl chr 4:175,292,177...175,308,689 		JBrowse link
G Recql RecQ like helicase ISO ClinVar Annotator: match by term: RECON progeroid syndrome | ClinVar Annotator: match by term: RECQL-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:25915596 More... NCBI chr 4:175,308,337...175,332,965
Ensembl chr 4:175,304,117...175,332,945 		JBrowse link
Ruijs-Aalfs syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sprtn SprT-like N-terminal domain ISO ClinVar Annotator: match by term: Progeroid features-hepatocellular carcinoma predisposition syndrome | ClinVar Annotator: match by term: Ruijs-Aalfs syndrome OMIM
ClinVar		 PMID:12503110 PMID:25261934 PMID:25741868 NCBI chr19:52,857,612...52,864,864
Ensembl chr19:52,857,866...52,864,864 		JBrowse link
Werner syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hif1a hypoxia inducible factor 1 subunit alpha treatment ISO RGD PMID:19741171 RGD:10402544 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Lmna lamin A/C ISO atypical;DNA:missense mutations:cds:p.A57P, p.R133L, p.L140R (human) RGD PMID:12927431 RGD:12791031 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Werner syndrome ClinVar PMID:25741868 NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Purg purine-rich element binding protein G ISO ClinVar Annotator: match by term: Werner syndrome ClinVar NCBI chr16:58,732,327...58,763,356
Ensembl chr16:58,720,335...58,763,359 		JBrowse link
G Wrn WRN RecQ like helicase ISO
ISS		 ClinVar Annotator: match by term: Werner syndrome
OMIM:277700
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:8037212 PMID:8602509 PMID:8968742 PMID:9012406 PMID:9048918 More... RGD:1580825 NCBI chr16:58,763,517...58,898,604
Ensembl chr16:58,763,504...58,895,450 		JBrowse link
Wiedemann-Rautenstrauch syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome ClinVar PMID:16786509 PMID:28492532 PMID:29101475 PMID:30450527 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Neonatal pseudo-hydrocephalic progeroid syndrome | ClinVar Annotator: match by term: POLR3A-related disorders | ClinVar Annotator: match by term: Wiedemann-Rautenstrauch syndrome | ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome OMIM
ClinVar		 PMID:614258 PMID:12605447 PMID:16007586 PMID:16199547 PMID:19938095 More... NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172 		JBrowse link
G Pycr1 pyrroline-5-carboxylate reductase 1 ISO ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome ClinVar PMID:4076251 PMID:16199547 PMID:16233902 PMID:18348262 PMID:19648921 More... NCBI chr10:105,917,732...105,922,658
Ensembl chr10:105,917,680...105,922,549 		JBrowse link
XFE progeroid syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISS OMIM:610965 MouseDO NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963 		JBrowse link
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: XFE progeroid syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8797827 PMID:9485007 PMID:9579555 PMID:15159313 PMID:15886521 More... NCBI chr10:2,416,259...2,448,364
Ensembl chr10:2,419,038...2,448,369
Ensembl chr10:2,419,038...2,448,369 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19106
    syndrome 11278
      progeroid syndrome 28
        MARBACH-RUSTAD PROGEROID SYNDROME 1
        Nestor-Guillermo progeria syndrome 2
        RECON PROGEROID SYNDROME 2
        Werner syndrome + 5
        Wiedemann-Rautenstrauch syndrome 3
        XFE progeroid syndrome 2
        progeria + 20
paths to the root