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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:progeria
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Accession:DOID:3911 term browser browse the term
Definition:A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22. (DO)
Synonyms:exact_synonym: HGPS;   Hutchinson-Gilford Progeria Syndromes;   Hutchinson-Gilford disease;   Hutchinson-Gilford progeria syndrome;   Hutchinson-Gilford syndrome
 narrow_synonym: Hutchinson-Gilford progeria syndrome, atypical
 xref: GARD:7467;   ICD10CM:E34.8;   MESH:D011371;   MIM:176670;   MONDO:0020732;   NCI:C34951;   ORDO:740
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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 chr20:18,601,307...19,224,790
Ensembl chr20:18,601,826...19,084,879 		JBrowse link
G Eef1e1 eukaryotic translation elongation factor 1 epsilon 1 ISO RGD PMID:20726853 RGD:10401221 NCBI chr17:26,354,247...26,364,953
Ensembl chr17:26,354,228...26,370,687 		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 chr10:2,926,085...2,958,176
Ensembl chr10:2,920,455...2,955,539 		JBrowse link
G Gh1 growth hormone 1 treatment ISO RGD PMID:20805469 PMID:20805469 RGD:10003141, RGD:10003141 NCBI chr10:91,727,883...91,729,860
Ensembl chr10:91,727,884...91,729,859 		JBrowse link
G Igf1 insulin-like growth factor 1 treatment ISO RGD PMID:20805469 RGD:10003141 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:24,130,137...24,246,764 		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:1849984 PMID:2007407 PMID:2270059 PMID:2733290 PMID:4740717 More... RGD:12791022, RGD:10003159, RGD:10003158, RGD:10003156, RGD:10003154, RGD:737720 NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:176,237,564...176,288,072 		JBrowse link
G Pycr1 pyrroline-5-carboxylate reductase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19648921 NCBI chr10:106,416,056...106,420,982
Ensembl chr10:106,412,576...106,423,393 		JBrowse link
G Sirt6 sirtuin 6 ISS OMIM:176670 MouseDO NCBI chr 7:8,733,056...8,738,543
Ensembl chr 7:8,732,974...8,738,542 		JBrowse link
G Sprtn SprT-like N-terminal domain ISO CTD Direct Evidence: marker/mechanism CTD PMID:25261934 NCBI chr19:69,754,989...69,762,240
Ensembl chr19:69,754,980...69,762,237 		JBrowse link
G Sun1 Sad1 and UNC84 domain containing 1 severity ISO RGD PMID:22541428 RGD:10044242 NCBI chr12:20,510,230...20,555,123
Ensembl chr12:20,490,861...20,555,240 		JBrowse link
G Vcpip1 valosin containing protein interacting protein 1 ISS OMIM:176670 MouseDO NCBI chr 5:14,317,083...14,343,724
Ensembl chr 5:14,316,918...14,347,778 		JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:176670 		CTD
MouseDO		 PMID:23217256 NCBI chr 5:139,912,395...139,945,532
Ensembl chr 5:139,913,671...139,945,532 		JBrowse link
Fontaine Progeroid Syndrome 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 | ClinVar Annotator: match by term: SLC25A24-related condition OMIM
ClinVar		 PMID:10215548 PMID:10594888 PMID:19731360 PMID:21216154 PMID:25741868 More... NCBI chr 2:199,449,425...199,487,287
Ensembl chr 2:199,449,345...199,487,290 		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 susceptibility ISO ClinVar Annotator: match by term: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome ClinVar
OMIM		 PMID:7704014 PMID:9536098 PMID:17576681 PMID:19966286 PMID:21157497 More... NCBI chr 1:104,161,984...104,178,074
Ensembl chr 1:104,162,016...104,172,982 		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 3:80,137,556...80,199,547
Ensembl chr 3:80,137,581...80,271,684 		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 1:212,101,523...212,103,568
Ensembl chr 1:212,101,523...212,103,552 		JBrowse link
G Eif1ad eukaryotic translation initiation factor 1A domain containing ISO ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome ClinVar NCBI chr 1:212,103,715...212,109,015
Ensembl chr 1:212,103,892...212,109,017 		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:12181311 PMID:15054839 PMID:16199547 More... NCBI chr18:56,770,348...56,809,228
Ensembl chr18:56,770,348...56,809,233 		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 2:176,237,564...176,265,301
Ensembl chr 2:176,237,564...176,288,072 		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: SPRTN-related condition OMIM
ClinVar		 PMID:12503110 PMID:25261934 PMID:25741868 PMID:28492532 NCBI chr19:69,754,989...69,762,240
Ensembl chr19:69,754,980...69,762,237 		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 chr10:80,380,458...80,397,461
Ensembl chr10:80,380,453...80,397,460 		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-like progeroid syndrome OMIM
ClinVar		 PMID:614258 PMID:12605447 PMID:16007586 PMID:16199547 PMID:19938095 More... NCBI chr16:56,066...95,060
Ensembl chr16:56,066...95,060 		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 chr10:106,416,056...106,420,982
Ensembl chr10:106,412,576...106,423,393 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      progeroid syndrome 31
        progeria 20
          Acrogeria, Gottron Type 0
          Bird Headed Dwarfism Montreal Type 0
          Fontaine Progeroid Syndrome 1
          Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 1
          Mandibuloacral Dysplasia Progeroid Syndrome 1
          Mulvihill-Smith syndrome 0
          Penttinen-Aula Syndrome 1
          Petty Laxova Wiedemann Syndrome 0
          Premature Aging Syndrome, Okamoto Type 0
          Progeria Syndrome, Childhood-Onset + 3
          Progeroid Facial Appearance with Hand Anomalies 0
          Ruijs-Aalfs syndrome 1
          Ruvalcaba Churesigaew Myhre Syndrome 0
          Wiedemann-Rautenstrauch syndrome 3
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            autosomal genetic disease 10302
              autosomal dominant disease 6057
                progeria 20
                  Acrogeria, Gottron Type 0
                  Bird Headed Dwarfism Montreal Type 0
                  Fontaine Progeroid Syndrome 1
                  Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 1
                  Mandibuloacral Dysplasia Progeroid Syndrome 1
                  Mulvihill-Smith syndrome 0
                  Penttinen-Aula Syndrome 1
                  Petty Laxova Wiedemann Syndrome 0
                  Premature Aging Syndrome, Okamoto Type 0
                  Progeria Syndrome, Childhood-Onset + 3
                  Progeroid Facial Appearance with Hand Anomalies 0
                  Ruijs-Aalfs syndrome 1
                  Ruvalcaba Churesigaew Myhre Syndrome 0
                  Wiedemann-Rautenstrauch syndrome 3
paths to the root