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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:brachydactyly type A1
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Accession:DOID:0110964 term browser browse the term
Definition:A brachydactyly characterized by rudimentary or fused middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes. (DO)
Synonyms:exact_synonym: BDA1;   Farabee-Type Brachydactyly
 broad_synonym: IHH-RELATED CONDITION
 primary_id: MESH:C537088
 alt_id: OMIM:112500;   RDO:0002862
 xref: GARD:978;   ORDO:93388


show annotations for term's descendants           Sort by:
brachydactyly type A1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf5 growth differentiation factor 5 ISO DNA:missense mutation:cds:c.1195C>T(human) RGD PMID:20683927 RGD:12437076 NCBI chr 3:144,454,316...144,458,508
Ensembl chr 3:144,454,338...144,458,612 		JBrowse link
G Ihh Indian hedgehog signaling molecule ISO
ISS		 DNA:missense mutations:CDS:p.E95K (283G>A), p.D100E (300C>A), p.E131K (391G>A) (human)
DNA:missense mutation: :p.T154I (461C>T) (human)
DNA:missense mutation: :p.N100D (298G>A) (human)
DNA:missense mutations:exon:p.R128Q (c.383G>A), p.T130N (c.389C>A) (human)
DNA:deletion:exon:p.E95del (c.283_285delGAG) (human)
DNA:missense mutation:exon:p.158R>C (c.472C>T) (human)
DNA:deletion, missense mutation:exon:p.E95del (c.283_285delGAG), p.D100E (c.300C>G) (human)
DNA:missense mutation:exon:p.E95G (284A>G) (human)
CTD Direct Evidence: marker/mechanism
OMIM:112500
ClinVar Annotator: match by term: Brachydactyly Farabee type | ClinVar Annotator: match by term: Brachydactyly type A1 | ClinVar Annotator: match by term: IHH-related condition		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:11455389 PMID:12384778 PMID:12525541 PMID:12566523 PMID:14043746 More... RGD:1600032, RGD:12910944, RGD:12910945, RGD:12910964, RGD:12910965, RGD:12910970, RGD:11535949, RGD:12910974 NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:15841179 RGD:12798572 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170 		JBrowse link
brachydactyly type A1C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf5 growth differentiation factor 5 ISO
ISS		 ClinVar Annotator: match by term: Brachydactyly type A1C
CTD Direct Evidence: marker/mechanism
OMIM:615072		 OMIM
ClinVar
CTD
MouseDO		 PMID:9288098 PMID:20683927 PMID:25741868 NCBI chr 3:144,454,316...144,458,508
Ensembl chr 3:144,454,338...144,458,612 		JBrowse link
brachydactyly type A1D term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr1b bone morphogenetic protein receptor type 1B ISO ClinVar Annotator: match by term: Brachydactyly type A1D
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:25758993 NCBI chr 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      bone development disease 2307
        dysostosis 578
          brachydactyly 34
            brachydactyly type A1 4
              Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay 0
              brachydactyly type A1B 0
              brachydactyly type A1C 1
              brachydactyly type A1D 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      musculoskeletal system disease 8306
        connective tissue disease 5787
          bone disease 4302
            bone development disease 2307
              dysostosis 578
                brachydactyly 34
                  brachydactyly type A1 4
                    Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay 0
                    brachydactyly type A1B 0
                    brachydactyly type A1C 1
                    brachydactyly type A1D 1
paths to the root