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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 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 LMNA on chromosome 1q22. (DO)
Synonyms:exact_synonym: HGPS;   Hutchinson Gilford Progeria Syndrome;   Hutchinson Gilford Syndrome;   Hutchinson-Gilford Progeria Syndrome, Atypical;   Hutchinson-Gilford Progeria Syndromes;   Hutchinson-Gilford disease
 narrow_synonym: PROGERIA PROGERIA SYNDROME, CHILDHOOD-ONSET
 primary_id: MESH:D011371
 alt_id: OMIM:176670
 xref: GARD:7467;   ICD10CM:E34.8;   NCI:C34951;   OMIM:PS176670;   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 chr20:18,602,267...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 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 ClinVar Annotator: match by term: Hutchinson-Gilford syndrome
CTD Direct Evidence: marker/mechanism
DNA:silent mutation:cds:c.1824C>T (human)
ClinVar Annotator: match by term: Hutchinson-Gilford progeria syndrome, atypical
ClinVar Annotator: match by OMIM:176670
DNA:missense mutations, silent mutation:cds:multiple
DNA:missense mutation:exon:p.K542N (1626G>C) human
DNA:missense mutations:cds:multiple
ClinVar Annotator: match by term: Hutchinson Gilford progeria syndrome
OMIM
ClinVar
CTD
PMID:1849984 PMID:10080180 PMID:10612827 PMID:10655060 PMID:10739764 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 chr19:52,857,599...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 CTD Direct Evidence: marker/mechanism CTD PMID:23217256 NCBI chr 5:134,627,218...134,660,360
Ensembl chr 5:134,627,229...134,660,110
JBrowse link
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: Progeroid syndrome, congenital, petty type
ClinVar Annotator: match by term: Fontaine progeroid syndrome
ClinVar
OMIM
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:25583476 PMID:25637381 PMID:25741868 PMID:25938944 PMID:26467025 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 OMIM
ClinVar
PMID:32917887 NCBI chr 3:59,730,206...59,792,202
Ensembl chr 3:59,730,197...59,792,201
JBrowse link
Neonatal Progeroid Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Neonatal pseudo-hydrocephalic progeroid syndrome
ClinVar Annotator: match by term: Wiedemann-Rautenstrauch syndrome
OMIM
ClinVar
PMID:614258 PMID:12605447 PMID:16007586 PMID:19938095 PMID:21855841 More... NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172
JBrowse link
Nestor-Guillermo Progeria Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Banf1 BAF nuclear assembly factor 1 ISO ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome
ClinVar Annotator: match by OMIM:614008
OMIM
ClinVar
PMID:21549337 PMID:23720404 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 ClinVar Annotator: match by term: Premature aging syndrome, Penttinen type OMIM
ClinVar
PMID:9056558 PMID:23720404 PMID:23731537 PMID:23731542 PMID:25158255 More... NCBI chr18:54,500,002...54,538,843
Ensembl chr18:54,499,964...54,538,843
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: Progeria syndrome, childhood-onset
ClinVar Annotator: match by term: Hutchinson-Gilford progeria syndrome, childhood-onset
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
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: RUIJS-AALFS SYNDROME
ClinVar Annotator: match by OMIM:616200
ClinVar
OMIM
PMID:12503110 PMID:25261934 NCBI chr19:52,857,599...52,864,864
Ensembl chr19:52,857,866...52,864,864
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      progeria 19
        Acrogeria, Gottron Type 0
        Bird Headed Dwarfism Montreal Type 0
        Congenital Progeroid Syndrome, Petty Type 1
        Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 1
        Mandibuloacral Dysplasia Progeroid Syndrome 1
        Neonatal Progeroid Syndrome 1
        Penttinen-Aula Syndrome 1
        Petty Laxova Wiedemann Syndrome 0
        Premature Aging Syndrome, Okamoto Type 0
        Progeria Short Stature Pigmented Nevi 0
        Progeria Syndrome, Childhood-Onset + 3
        Progeroid Facial Appearance with Hand Anomalies 0
        Ruijs-Aalfs syndrome 1
        Ruvalcaba Churesigaew Myhre Syndrome 0
Path 2
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        genetic disease 8962
          monogenic disease 7129
            autosomal genetic disease 6277
              progeria 19
                Acrogeria, Gottron Type 0
                Bird Headed Dwarfism Montreal Type 0
                Congenital Progeroid Syndrome, Petty Type 1
                Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 1
                Mandibuloacral Dysplasia Progeroid Syndrome 1
                Neonatal Progeroid Syndrome 1
                Penttinen-Aula Syndrome 1
                Petty Laxova Wiedemann Syndrome 0
                Premature Aging Syndrome, Okamoto Type 0
                Progeria Short Stature Pigmented Nevi 0
                Progeria Syndrome, Childhood-Onset + 3
                Progeroid Facial Appearance with Hand Anomalies 0
                Ruijs-Aalfs syndrome 1
                Ruvalcaba Churesigaew Myhre Syndrome 0
paths to the root