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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:Laminopathies
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Accession:DOID:9006138 term browser browse the term
Definition:Genetic diseases caused by mutations of the lamin A/C gene (LMNA): dystrophies of skeletal and/or cardiac muscles, and partial lipodystrophies.
Synonyms:exact_synonym: laminopathy
 primary_id: MESH:D000083083
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Laminopathies 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: Laminopathy ClinVar PMID:2007407 PMID:10587585 PMID:10655060 PMID:10739751 PMID:10739764 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO DNA:missense mutations, nonsense mutation:cds:multiple (human)
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 2, autosomal dominant
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1B
DNA:frameshift mutation:cds:c.625_626delA (human)
DNA:deletion, missense mutation, snp:cds, intron:p.K208del, p.R377H, g.IVS9+5G>C (human)
ClinVar
OMIM
RGD
PMID:12920062 PMID:15140538 PMID:15475483 PMID:15998779 PMID:17377071 More... RGD:12791020, RGD:2306094, RGD:12791273, RGD:11062274 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
autosomal recessive Emery-Dreifuss muscular dystrophy 3 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 null
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 3, autosomal recessive
ClinVar
OMIM
PMID:2007407 PMID:10587585 PMID:10655060 PMID:10739751 PMID:10739764 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
Charcot-Marie-Tooth disease type 2B1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO DNA:missense mutation:cds:p.R298C (human)
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, neuronal, Type 2B1
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B1
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B1
ClinVar
OMIM
RGD
PMID:10612827 PMID:10655060 PMID:10739764 PMID:10939567 PMID:11503164 More... RGD:1358482 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
congenital muscular dystrophy due to LMNA mutation 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: Congenital muscular dystrophy, LMNA-related
associated with Dropped Head Syndromes;DNA:missense mutations:cds:p.N39S, p.R249W, p.E358K (human)
ClinVar Annotator: match by OMIM:613205
OMIM
ClinVar
RGD
PMID:10612827 PMID:10655060 PMID:10939567 PMID:11503164 PMID:11792809 More... RGD:12791283 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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
dilated cardiomyopathy 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:24033266 PMID:24439875 PMID:25741868 PMID:27532257 PMID:28166811 More... NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356
JBrowse link
G Actc1 actin, alpha, cardiac muscle 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 NCBI chr 3:100,811,987...100,817,523
Ensembl chr 3:100,811,987...100,817,523
JBrowse link
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622
JBrowse link
G Ankrd1 ankyrin repeat domain 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:19608031 PMID:23299917 PMID:23572067 PMID:23861362 PMID:24033266 More... NCBI chr 1:233,815,851...233,834,891
Ensembl chr 1:233,815,851...233,834,919
JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A
ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
ClinVar PMID:21353195 PMID:24033266 PMID:25741868 PMID:28436997 PMID:28492532 More... NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858
JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207
JBrowse link
G Dot1l DOT1 like histone lysine methyltransferase ISS OMIM:115200 MouseDO NCBI chr 7:8,917,786...8,959,474
Ensembl chr 7:8,917,786...8,956,475
JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:18957847 PMID:23863954 PMID:23911551 PMID:24033266 PMID:25741868 More... NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392
JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 PMID:28492532 NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
ClinVar Annotator: match by term: Dilated cardiomyopathy 1A
ClinVar PMID:20716751 PMID:23292937 PMID:23861362 PMID:24033266 PMID:24125834 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 NCBI chr  X:152,038,990...152,042,190
Ensembl chr  X:152,038,998...152,045,807
JBrowse link
G Hand2 heart and neural crest derivatives expressed 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:26676105 NCBI chr16:32,917,826...32,919,880
Ensembl chr16:32,917,823...32,919,891
JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:14662268 PMID:17097056 PMID:17235623 PMID:17438622 PMID:19377068 More... NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A
ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
ClinVar
OMIM
PMID:1839274 PMID:2270059 PMID:2280636 PMID:2526018 PMID:8621584 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:11499718 PMID:11815426 PMID:12110947 PMID:12707239 PMID:12818575 More... NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:24033266 PMID:25741868 PMID:28082330 PMID:28492532 NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30105547 NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr20:25,429,898...25,522,443
Ensembl chr20:25,436,843...25,522,443
JBrowse link
G Nexn nexilin (F actin binding protein) ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:241,186,783...241,218,315
Ensembl chr 2:241,186,790...241,218,342
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr11:84,661,783...84,727,730 JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
ClinVar Annotator: match by term: Dilated cardiomyopathy 1A
ClinVar PMID:16783378 PMID:19712804 PMID:20301718 PMID:20590677 PMID:22004663 More... NCBI chr 1:252,683,760...252,907,465
Ensembl chr 1:252,683,771...252,886,060
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:16712702 PMID:18508782 PMID:19716085 PMID:22581653 PMID:23631430 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
JBrowse link
G Sgcd sarcoglycan, delta ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:24033266 PMID:25637381 PMID:25741868 NCBI chr10:31,346,480...32,328,364
Ensembl chr10:31,280,511...31,724,840
JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:152,065,539...152,076,178
Ensembl chr  X:152,065,609...152,074,001
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A
ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
ClinVar PMID:9536098 PMID:17444505 PMID:17576681 PMID:21520333 PMID:22335739 More... NCBI chr 3:61,652,432...61,924,912 JBrowse link
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome 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: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
ClinVar Annotator: match by term: Malouf syndrome
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH PREMATURE OVARIAN FAILURE
ClinVar Annotator: match by OMIM:212112
OMIM
ClinVar
PMID:2007407 PMID:10587585 PMID:10612827 PMID:10655060 PMID:10739751 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
familial partial lipodystrophy type 2 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: Partial lipodystrophy, Dunnigan
ClinVar Annotator: match by term: Lipodystrophy, familial, of limbs and lower trunk
OMIM
ClinVar
PMID:12628721 PMID:12920062 PMID:15140538 PMID:15475483 PMID:15998779 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
Heart-Hand Syndrome, Slovenian Type 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: Heart-hand syndrome, Slovenian type
ClinVar Annotator: match by OMIM:610140
OMIM
ClinVar
PMID:15996213 PMID:18611980 PMID:22224630 PMID:22266370 PMID:22464770 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
lethal restrictive dermopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fst follistatin ISS OMIM:275210 MouseDO NCBI chr 2:46,123,260...46,130,584
Ensembl chr 2:46,123,439...46,130,571
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Fetal hypokinesia sequence due to restrictive dermopathy
ClinVar Annotator: match by term: Lethal tight skin contracture syndrome
ClinVar Annotator: match by OMIM:275210
OMIM
ClinVar
PMID:10612827 PMID:10655060 PMID:11503164 PMID:11799477 PMID:12629077 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
G Slc27a4 solute carrier family 27 member 4 ISS OMIM:275210 MouseDO NCBI chr 3:13,075,022...13,087,943
Ensembl chr 3:13,075,022...13,087,943
JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO ClinVar Annotator: match by term: Lethal tight skin contracture syndrome
ClinVar Annotator: match by term: Fetal hypokinesia sequence due to restrictive dermopathy
ClinVar Annotator: match by OMIM:275210
DNA:duplication:exon:c.591dupT (human)
OMIM
ClinVar
RGD
PMID:3840649 PMID:8152880 PMID:12913070 PMID:15317753 PMID:15843403 More... RGD:10043097 NCBI chr 5:134,627,218...134,660,360
Ensembl chr 5:134,627,229...134,660,110
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 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
RGD
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
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 17251
    Developmental Disease 10960
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9494
        genetic disease 8999
          Laminopathies 46
            Autosomal Emery-Dreifuss Muscular Dystrophy + 1
            Charcot-Marie-Tooth disease type 2B1 1
            Heart-Hand Syndrome, Slovenian Type 1
            congenital muscular dystrophy due to LMNA mutation 1
            dilated cardiomyopathy 1A 26
            dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome 1
            familial partial lipodystrophy type 2 1
            lethal restrictive dermopathy 4
            progeria + 19
paths to the root