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.
G
Fgfr3
fibroblast growth factor receptor 3
ISO
DNA:missense mutation:exon:p.S365C (mouse) protein:increased expression:necleus,chondrocyte: CTD Direct Evidence: marker/mechanism
CTD
PMID:19855393 , PMID:10073901 , PMID:11181569 , PMID:9302269
RGD:2289863 , RGD:12910972 , RGD:11568030
NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
G
Hspg2
heparan sulfate proteoglycan 2
ISS
OMIM:187600 | OMIM:187601 | OMIM:273680
MouseDO
NCBI chr 5:155,812,096...155,913,751
G
Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Thanatophoric dysplasia, type 2 ClinVar Annotator: match by term: Thanatophoric dysplasia with Kleeblattschaedel
OMIM ClinVar
PMID:1908846 PMID:7773297 PMID:8589699 PMID:8858131 PMID:9207791 PMID:9677066 PMID:10073901 PMID:10471491 PMID:10696568 PMID:11038465 PMID:11055896 PMID:11241532 PMID:11429702 PMID:11529856 PMID:11879084 PMID:12624096 PMID:12833394 PMID:15772091 PMID:16752380 PMID:16841094 PMID:17384684 PMID:17875876 PMID:18583390 PMID:18642369 PMID:19381019 PMID:19749790 PMID:19855393 PMID:25157968 PMID:25606676 PMID:25741868 PMID:25809207 PMID:26619011 PMID:26818779 PMID:28492532 PMID:30311386
NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
G
Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by OMIM:187600 ClinVar Annotator: match by term: LETHAL SHORT-LIMBED PLATYSPONDYLIC DWARFISM, SAN DIEGO TYPE
ClinVar OMIM
PMID:1908846 PMID:7647778 PMID:7773297 PMID:8589699 PMID:8845844 PMID:8858131 PMID:9207791 PMID:9438390 PMID:9677066 PMID:9843049 PMID:10053006 PMID:10073901 PMID:10471491 PMID:10671061 PMID:10696568 PMID:11038465 PMID:11055896 PMID:11241532 PMID:11429702 PMID:11529856 PMID:11879084 PMID:12009017 PMID:12833394 PMID:15772091 PMID:16841094 PMID:17384684 PMID:17509076 PMID:17875876 PMID:18076102 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19331127 PMID:19381019 PMID:19749790 PMID:20542753 PMID:21273588 PMID:22869148 PMID:23200862 PMID:24476948 PMID:25157968 PMID:25606676 PMID:25741868 PMID:25809207 PMID:26619011 PMID:26818779 PMID:28249712 PMID:28492532 PMID:30311386
NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
G
B4galt7
beta-1,4-galactosyltransferase 7
ISO
ClinVar Annotator: match by term: Lethal skeletal dysplasia
ClinVar
PMID:1221956 PMID:1640425 PMID:15211654 PMID:18158310 PMID:23956117 PMID:24755949 PMID:25741868 PMID:26940150
NCBI chr17:9,549,605...9,558,672
Ensembl chr17:9,550,028...9,558,634
G
Col2a1
collagen type II alpha 1 chain
ISO
ClinVar Annotator: match by term: Platyspondylic lethal skeletal dysplasia Torrance type DNA:mutation:cds:c.44406A>C (p.D1469A)(mouse) ClinVar Annotator: match by OMIM:151210
OMIM ClinVar
PMID:14729840 PMID:15266623 PMID:17726487 PMID:25741868 PMID:28492532 , PMID:21538020
RGD:11667102
NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
G
Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Lethal skeletal dysplasia
ClinVar
PMID:8589699 PMID:10471491 PMID:11038465 PMID:11879084 PMID:15772091 PMID:17384684 PMID:19381019 PMID:19749790 PMID:25157968 PMID:25606676 PMID:25741868 PMID:26619011 PMID:28492532 PMID:30311386
NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
16085
Developmental Diseases
9586
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
8437
Infant, Newborn, Diseases
547
thanatophoric dysplasia
4
Kozlowski Warren Fisher Syndrome
0
Larsen-Like Syndrome, Lethal Type
0
Short Limb Dwarf Lethal Colavita Kozlowski Type
0
Skeletal Dysplasia, San Diego Type
0
Thanatophoric Dysplasia Glasgow Variant
0
Thanatophoric Dysplasia, Type 2
1
Thanatophoric Dysplasia, Type I
1
Torrance type platyspondylic dysplasia
3
Path 2
disease
16085
disease of anatomical entity
15340
Skin and Connective Tissue Diseases
5492
connective tissue disease
4166
bone disease
3538
bone development disease
1344
Dwarfism
496
achondroplasia
11
thanatophoric dysplasia
4
Kozlowski Warren Fisher Syndrome
0
Larsen-Like Syndrome, Lethal Type
0
Short Limb Dwarf Lethal Colavita Kozlowski Type
0
Skeletal Dysplasia, San Diego Type
0
Thanatophoric Dysplasia Glasgow Variant
0
Thanatophoric Dysplasia, Type 2
1
Thanatophoric Dysplasia, Type I
1
Torrance type platyspondylic dysplasia
3