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: acromesomelic dysplasia
Accession: DOID:0080049
browse the term
Definition: An osteochondrodysplasia that has_material_basis_in mesomelia and acromelia, which results_in short limb Dwarfism. (DO)
Synonyms: exact_synonym: acromesomelic dwarfism
primary_id: MESH:C535658
alt_id: RDO:0000906
xref: GARD:6 ; ORDO:93437
For additional species annotation, visit the
Alliance of Genome Resources .
G
Gdf5
growth differentiation factor 5
ISO
ClinVar Annotator: match by term: Acromesomelic Dysplasia
ClinVar
NCBI chr 3:151,482,672...151,487,129
Ensembl chr 3:151,483,249...151,486,693
G
Npr2
natriuretic peptide receptor 2
ISO
ClinVar Annotator: match by term: Acromesomelic Dysplasia
ClinVar
NCBI chr 5:59,128,186...59,147,321
Ensembl chr 5:59,128,315...59,147,255
G
Bmpr1b
bone morphogenetic protein receptor type 1B
ISO
ClinVar Annotator: match by OMIM:609441 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acromesomelic dysplasia, Demirhan type
OMIM ClinVar CTD
PMID:15805157 PMID:24129431 PMID:25741868 PMID:26105076
NCBI chr 2:247,392,195...247,662,026
Ensembl chr 2:247,403,920...247,446,882
G
Gdf5
growth differentiation factor 5
ISO
ClinVar Annotator: match by term: Grebe syndrome DNA:missense mutation:cds:c.1285T>C (p.C429R)(human) DNA:missense mutation:cds:c.527T>C(p.L176P)(human) DNA:insertion mutation:cds:1114insGAGT(human) ClinVar Annotator: match by OMIM:200700
OMIM ClinVar
PMID:9288098 PMID:12124730 PMID:12900894 PMID:17384641 PMID:25741868 PMID:28492532 , PMID:18979166 , PMID:23812741 , PMID:19038017
RGD:12487346 , RGD:12437083 , RGD:12437075
NCBI chr 3:151,482,672...151,487,129
Ensembl chr 3:151,483,249...151,486,693
G
Bmpr1b
bone morphogenetic protein receptor type 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29322508
NCBI chr 2:247,392,195...247,662,026
Ensembl chr 2:247,403,920...247,446,882
G
Gdf5
growth differentiation factor 5
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia, Hunter-Thompson type ClinVar Annotator: match by term: Acromesomelic dysplasia Hunter Thompson type
OMIM ClinVar
PMID:964999 PMID:2703235 PMID:8589725 PMID:17384641 PMID:25741868 PMID:28492532
NCBI chr 3:151,482,672...151,487,129
Ensembl chr 3:151,483,249...151,486,693
G
Npr2
natriuretic peptide receptor 2
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia, Maroteaux type ClinVar Annotator: match by term: Acromesomelic dysplasia Maroteaux type ClinVar Annotator: match by OMIM:602875
OMIM ClinVar
PMID:15146390 PMID:16384845 PMID:23065701 PMID:24471569 PMID:25703509 PMID:25741868 PMID:27994189 PMID:28492532 PMID:30311386
NCBI chr 5:59,128,186...59,147,321
Ensembl chr 5:59,128,315...59,147,255
G
Spag8
sperm associated antigen 8
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia Maroteaux type ClinVar Annotator: match by term: Acromesomelic dysplasia, Maroteaux type
ClinVar
PMID:15146390 PMID:25741868 PMID:28492532
NCBI chr 5:59,147,412...59,149,625
Ensembl chr 5:59,147,337...59,149,699
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
16085
disease of anatomical entity
15340
endocrine system disease
5009
Dwarfism
496
acromesomelic dysplasia
4
Acromesomelic Dysplasia, Campailla-Martinelli Type
0
Acromesomelic Dysplasia, Demirhan Type
1
acromesomelic dysplasia, Grebe type
1
acromesomelic dysplasia, Hunter-Thompson type
2
acromesomelic dysplasia, Maroteaux type
2
Path 2
disease
16085
disease of anatomical entity
15340
musculoskeletal system disease
5799
connective tissue disease
4166
bone disease
3538
bone development disease
1344
Dwarfism
496
acromesomelic dysplasia
4
Acromesomelic Dysplasia, Campailla-Martinelli Type
0
Acromesomelic Dysplasia, Demirhan Type
1
acromesomelic dysplasia, Grebe type
1
acromesomelic dysplasia, Hunter-Thompson type
2
acromesomelic dysplasia, Maroteaux type
2