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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


show annotations for term's descendants           Sort by:
Failure to Thrive term browser
Symbol Object Name Qualifiers 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...109,637,249
Ensembl chr 8:109,604,861...109,637,252 		JBrowse link
G Ddx23 DEAD-box helicase 23 ISO ClinVar Annotator: match by term: Failure to thrive ClinVar PMID:25741868 PMID:34050707 NCBI chr 7:129,797,620...129,814,909
Ensembl chr 7:129,797,614...129,814,949 		JBrowse link
G Diaph1 diaphanous-related formin 1 ISO ClinVar Annotator: match by term: Failure to thrive ClinVar PMID:24781755 PMID:25558065 PMID:25741868 NCBI chr18:29,669,659...29,769,070
Ensembl chr18:29,669,659...29,769,172 		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 PMID:28492532 PMID:33315086 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 Lipt1 lipoyltransferase 1 ISO ClinVar Annotator: match by term: Failure to thrive ClinVar PMID:25741868 PMID:27247813 PMID:28492532 NCBI chr 9:40,107,938...40,118,268
Ensembl chr 9:40,098,615...40,113,565 		JBrowse link
G Mcf2 MCF.2 cell line derived transforming sequence ISO ClinVar Annotator: match by term: Failure to thrive ClinVar PMID:25741868 NCBI chr  X:138,414,077...138,514,828
Ensembl chr  X:138,409,256...138,514,446 		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:17215403 More... NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342 		JBrowse link
G Mitd1 microtubule interacting and trafficking domain containing 1 ISO ClinVar Annotator: match by term: Failure to thrive ClinVar PMID:25741868 PMID:27247813 PMID:28492532 NCBI chr 9:40,113,943...40,125,280
Ensembl chr 9:40,113,946...40,125,289 		JBrowse link
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Failure to thrive ClinVar PMID:25741868 NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216 		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:12634870 PMID:12717436 PMID:12960218 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 PMID:28492532 NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO ClinVar Annotator: match by term: Failure to thrive ClinVar PMID:25741868 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170 		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
Ensembl chr 9:49,419,340...49,588,540 		JBrowse link
G Tars2 threonyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Failure to thrive ClinVar PMID:25741868 PMID:34508595 NCBI chr 2:183,293,095...183,310,210
Ensembl chr 2:183,293,097...183,310,184 		JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Failure to thrive ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532 		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
Ensembl chr 3:61,652,439...61,924,741 		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 Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma ISO ClinVar Annotator: match by term: Failure to thrive ClinVar PMID:25741868 PMID:28492532 PMID:31926053 NCBI chr12:20,744,500...20,772,828
Ensembl chr12:20,744,535...20,772,827 		JBrowse link
G Zfp668 zinc finger protein 668 ISO ClinVar Annotator: match by term: Failure to thrive ClinVar PMID:26633546 PMID:34313816 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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO
ISS		 DNA:mutations:cds:multiple(human)
ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome
DNA:mutation:cds:p.Q241R(mouse)
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:3265306 PMID:4386970 PMID:5771505 PMID:8042262 PMID:11313766 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: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:8234268 PMID:16474404 PMID:16474405 PMID:16773572 PMID:16987887 More... RGD:1600471 NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Map2k1 mitogen activated protein kinase kinase 1 ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome		 CTD
ClinVar
MouseDO		 PMID:1804226 PMID:12612583 PMID:15917206 PMID:16439621 PMID:16538226 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome		 CTD
ClinVar		 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CFC syndrome		 CTD
ClinVar		 PMID:17703371 PMID:25741868 PMID:28492532 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: Cardiofaciocutaneous syndrome ClinVar PMID:28492532 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 Qualifiers 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 OMIM
ClinVar		 PMID:2102266 PMID:2851224 PMID:3265306 PMID:4386970 PMID:5771505 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 Map2k1 mitogen activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 ClinVar PMID:17704260 PMID:18060073 PMID:19344873 PMID:19411838 PMID:20301365 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 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 Qualifiers 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 OMIM
ClinVar		 PMID:7773929 PMID:8246952 PMID:12110640 PMID:14982869 PMID:15696205 More... NCBI chr 4:178,185,418...178,218,484 JBrowse link
cardiofaciocutaneous syndrome 3 term browser
Symbol Object Name Qualifiers 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 OMIM
ClinVar		 PMID:1804226 PMID:12370306 PMID:12612583 PMID:15917206 PMID:16199547 More... NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147 		JBrowse link
G Snapc5 small nuclear RNA activating complex, polypeptide 5 ISO ClinVar Annotator: match by term: MAP2K1-related disorder ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 8:64,677,204...64,680,769
Ensembl chr 8:64,677,205...64,681,964 		JBrowse link
cardiofaciocutaneous syndrome 4 term browser
Symbol Object Name Qualifiers 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 | ClinVar Annotator: match by term: MAP2K2-related condition
DNA:missense mutation:CDS:p.P128Q (human)		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:16439621 PMID:17366577 PMID:17576681 PMID:17981815 More... RGD:155791562 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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fto FTO, alpha-ketoglutarate dependent dioxygenase susceptibility ISO ClinVar Annotator: match by term: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM | ClinVar Annotator: match by term: Growth retardation, developmental delay, coarse facies, and early death
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 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 PMID:25741868 PMID:28492532 NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083 		JBrowse link
Immunodeficiency 111 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpp9 dipeptidyl peptidase 9 ISO ClinVar Annotator: match by term: Hatipoglu immunodeficiency syndrome OMIM
ClinVar		 PMID:25741868 PMID:36112693 NCBI chr 9:1,011,347...1,046,337
Ensembl chr 9:1,011,351...1,046,541 		JBrowse link
Term paths to the root