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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:Failure to Thrive
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Accession:DOID:9001276 term browser browse the term
Definition:A condition of substandard growth or diminished capacity to maintain normal function.
Synonyms:primary_id: MESH:D005183;   RDO:0000789
For additional species annotation, visit the Alliance of Genome Resources.



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Failure to Thrive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28288113 NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
JBrowse link
G Ap1b1 adaptor related protein complex 1 subunit beta 1 ISO ClinVar Annotator: match by term: Failure to thrive ClinVar PMID:25741868 NCBI chr14:79,879,482...79,930,778
Ensembl chr14:79,879,533...79,930,778
JBrowse link
G Asip agouti signaling protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:32937126 NCBI chr 3:143,473,584...143,561,170
Ensembl chr 3:143,555,696...143,561,171
JBrowse link
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Failure to thrive ClinVar PMID:12787275 PMID:22266148 PMID:25741868 PMID:28492532 PMID:28830826 More... NCBI chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252
JBrowse link
G Epb41l4a erythrocyte membrane protein band 4.1 like 4A ISO ClinVar Annotator: match by term: Failure to thrive ClinVar PMID:25558065 NCBI chr18:25,405,461...25,615,392
Ensembl chr18:25,406,057...25,615,149
JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO ClinVar Annotator: match by term: Failure to thrive ClinVar PMID:25741868 NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Failure to thrive ClinVar PMID:25741868 NCBI chr20:44,600,603...44,724,047
Ensembl chr20:44,600,603...44,723,844
JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Failure to thrive ClinVar PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More... NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
JBrowse link
G Med25 mediator complex subunit 25 ISO ClinVar Annotator: match by term: Failure to thrive ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:95,359,961...95,375,827
Ensembl chr 1:95,360,284...95,375,877
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Failure to thrive ClinVar PMID:15064763 PMID:16437557 PMID:16714318 PMID:16835246 PMID:17296794 More... NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Failure to thrive ClinVar PMID:25741868 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Failure to thrive ClinVar PMID:25741868 NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Failure to thrive ClinVar PMID:11992261 PMID:12325025 PMID:12717436 PMID:12960218 PMID:15240615 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Failure to thrive ClinVar PMID:25741868 NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181
JBrowse link
G Slc12a1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Failure to thrive ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:112,406,140...112,482,913
Ensembl chr 3:112,406,140...112,482,899
JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO ClinVar Annotator: match by term: Failure to thrive ClinVar PMID:22730530 PMID:23534974 PMID:23541320 PMID:23709754 PMID:24239102 More... NCBI chr 9:49,419,561...49,459,969 JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Failure to thrive ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:61,652,432...61,924,912 JBrowse link
G Wnt2b Wnt family member 2B ISO ClinVar Annotator: match by term: Failure to thrive ClinVar PMID:29909964 NCBI chr 2:192,454,226...192,468,599
Ensembl chr 2:192,453,824...192,470,308
JBrowse link
G Zfp668 zinc finger protein 668 ISO ClinVar Annotator: match by term: Failure to thrive ClinVar NCBI chr 1:182,474,633...182,484,957
Ensembl chr 1:182,474,633...182,492,878
JBrowse link
cardiofaciocutaneous syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO DNA:mutations:cds:multiple(human)
ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome
ClinVar Annotator: match by term: CFC syndrome
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome
DNA:mutation:cds:p.Q241R(mouse)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:115150
ClinVar
CTD
RGD
PMID:4386970 PMID:5771505 PMID:8042262 PMID:12068308 PMID:12198537 More... RGD:1600471, RGD:11352608, RGD:11567236 NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17703371 NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO DNA:missense mutations:CDS:p.G60R, p.D153V (human)
ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:16474404 PMID:17056636 PMID:17703371 PMID:20186801 PMID:20949621 More... RGD:1600471 NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Map2k1 mitogen activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: CARDIOFACIOCUTANEOUS SYNDROME 1
ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome
ClinVar Annotator: match by term: CFC syndrome
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1804226 PMID:16439621 PMID:17366577 PMID:17551924 PMID:17567882 More... NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147
JBrowse link
G Map2k2 mitogen activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome
ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16439621 PMID:17703371 PMID:17981815 PMID:18039235 PMID:18042262 More... NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:17703371 NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
JBrowse link
G Rit1 Ras-like without CAAX 1 ISO ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome ClinVar NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455
JBrowse link
G Snapc5 small nuclear RNA activating complex, polypeptide 5 ISO ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome ClinVar NCBI chr 8:64,677,204...64,680,769
Ensembl chr 8:64,677,205...64,681,964
JBrowse link
cardiofaciocutaneous syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 ClinVar
OMIM
PMID:3265306 PMID:4386970 PMID:5771505 PMID:12068308 PMID:15035987 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 ClinVar PMID:8234268 PMID:17056636 PMID:18958496 PMID:21784453 PMID:24033266 More... NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Map2k2 mitogen activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 ClinVar PMID:17366577 PMID:24719372 PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243
JBrowse link
cardiofaciocutaneous syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 2
ClinVar Annotator: match by OMIM:615278
OMIM
ClinVar
PMID:7877967 PMID:8246952 PMID:16474404 PMID:16474405 PMID:16773572 More... NCBI chr 4:178,185,418...178,218,484 JBrowse link
cardiofaciocutaneous syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map2k1 mitogen activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 3
ClinVar Annotator: match by term: MAP2K1-Related Disorder
ClinVar
OMIM
PMID:1804226 PMID:12370306 PMID:16439621 PMID:17366577 PMID:17551924 More... NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147
JBrowse link
cardiofaciocutaneous syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map2k2 mitogen activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 4 OMIM
ClinVar
PMID:16439621 PMID:17366577 PMID:17981815 PMID:18042262 PMID:18413255 More... NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243
JBrowse link
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: Growth retardation, developmental delay, coarse facies, and early death
ClinVar Annotator: match by OMIM:612938
OMIM
ClinVar
PMID:19559399 PMID:19833892 PMID:20299471 PMID:23505181 PMID:23825611 More... NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Growth retardation, developmental delay, coarse facies, and early death ClinVar NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
JBrowse link

Term paths to the root