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: Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies
Accession: DOID:9004675
browse the term
Synonyms: xref: OMIM:PS617877
G
BMP2
bone morphogenetic protein 2
ISO
ClinVar Annotator: match by term: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
ClinVar
PMID:25741868 PMID:28492532 PMID:29198724
NCBI chr20:6,765,161...6,777,728
Ensembl chr20:6,546,173...6,558,610
G
BMP2
bone morphogenetic protein 2
ISO
ClinVar Annotator: match by term: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1
OMIM ClinVar
PMID:21671386 PMID:25741868 PMID:28492532 PMID:29198724 PMID:35227291
NCBI chr20:6,765,161...6,777,728
Ensembl chr20:6,546,173...6,558,610
G
SCUBE3
signal peptide, CUB domain and EGF like domain containing 3
ISO
ClinVar Annotator: match by term: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2
OMIM ClinVar
PMID:25741868 PMID:33308444
NCBI chr 6:34,776,605...34,815,808
Ensembl chr 6:35,872,590...35,911,272
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
17996
Developmental Disease
17885
bone development disease
2299
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies
2
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies 1
1
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2
1
Path 2
disease
17996
disease of anatomical entity
15260
musculoskeletal system disease
7804
connective tissue disease
5332
bone disease
3850
bone development disease
2299
Dwarfism
851
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies
2
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies 1
1
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2
1