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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:thanatophoric dysplasia
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Accession:DOID:13481 term browser browse the term
Definition:A severe form of neonatal dwarfism with very short limbs. All cases have died at birth or later in the neonatal period.
Synonyms:exact_synonym: Thanatophoric Dwarfism;   Thanatophoric Dwarfisms;   Thanatophoric Dysplasias;   Thanatophoric Short Stature
 primary_id: MESH:D013796;   RDO:0002111
 xref: GARD:85;   ICD10CM:Q77.1;   NCI:C85187;   ORDO:1860;   ORDO:2655;   ORDO:93274;   ORDO:93275
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
thanatophoric dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
G Hspg2 heparan sulfate proteoglycan 2 ISS OMIM:187600 | OMIM:187601 | OMIM:273680 MouseDO NCBI chr 5:155,812,096...155,913,751 JBrowse link
Thanatophoric Dysplasia, Type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
Thanatophoric Dysplasia, Type I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
Torrance type platyspondylic dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
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
JBrowse link
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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  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
Term Annotations click to browse term
  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
paths to the root