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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:acrocephalosyndactylia
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Accession:DOID:12960 term browser browse the term
Definition:Congenital craniostenosis with syndactyly.
Synonyms:exact_synonym: ACS1;   Acrocephalosyndactylias;   Acrocephalosyndactylies, Type 1;   Acrocephalosyndactyly (Apert);   Acrocephalosyndactyly, Type 1;   Acrocephaly, Skull Asymmetry, and Mild Syndactyly;   Apert Crouzon Disease;   Apert Syndrome;   Craniofacial-Skeletal-Dermatologic Dysplasia;   Dysostosis Craniofacialis with Hypertelorism;   Kurczynski Casperson Syndrome;   Noack Syndrome;   Noack Syndromes;   Syndactylic Oxycephalies;   Syndactylic Oxycephaly;   Type I Acrocephalosyndactylies;   Type I Acrocephalosyndactyly;   Type II Acrocephalosyndactylies
 narrow_synonym: ACROCEPHALOSYNDACTYLY, TYPE II;   ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLY SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES;   ACS I APERT-CROUZON DISEASE;   ACS II;   VOGT CEPHALODACTYLY
 primary_id: MESH:D000168
 alt_id: OMIM:101200;   RDO:0000787
 xref: ICD9CM:755.55;   NCI:C34348;   NCI:C99099
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
acrocephalosyndactylia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 Fibroblast growth factor receptor 1 ISO DNA:missense mutation: :p.P252R (human) RGD PMID:7874169, PMID:25251565 RGD:11567243, RGD:11567271 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 severity
treatment
ISO ClinVar Annotator: match by term: Acrocephalosyndactyly type I
ClinVar Annotator: match by term: Craniofacial-skeletal-dermatologic dysplasia
ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly
ClinVar Annotator: match by term: Apert syndrome
ClinVar Annotator: match by term: Saethre-Chotzen syndrome
DNA:missense mutation:cds:p.P253R (human)
DNA:missense mutation:cds:p.A172F (human)
DNA:missense mutations:cds:p.S252W, p.P253R (human)
ClinVar Annotator: match by OMIM:101200
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:
OMIM
ClinVar
CTD
PMID:7558045 PMID:7607643 PMID:7655462 PMID:7668257 PMID:7719344 PMID:7719345 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8650126 PMID:8651276 PMID:8696350 PMID:8755573 PMID:8946174 PMID:8957519 PMID:9002682 PMID:9150725 PMID:9462761 PMID:9475591 PMID:9502772 PMID:9677057 PMID:9700203 PMID:9719378 PMID:9973282 PMID:10394936 PMID:10618369 PMID:10851026 PMID:11121055 PMID:11390973 PMID:11781872 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12400058 PMID:12900900 PMID:14499350 PMID:15286168 PMID:15316116 PMID:15389579 PMID:15863034 PMID:15975938 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16531735 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17264867 PMID:17525745 PMID:17694057 PMID:18552176 PMID:18618990 PMID:18726952 PMID:19186770 PMID:20133659 PMID:20301628 PMID:20489451 PMID:20503384 PMID:20856019 PMID:21367659 PMID:21397175 PMID:22238366 PMID:22558232 PMID:22664175 PMID:23002168 PMID:23431754 PMID:23495007 PMID:23546041 PMID:23786770 PMID:24036790 PMID:24127277 PMID:24486773 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25157968 PMID:25271085 PMID:25425289 PMID:25706251 PMID:25741868 PMID:25867380 PMID:25937001 PMID:26380986 PMID:26429889 PMID:26467025 PMID:26619011 PMID:27079505 PMID:27683237 PMID:28492532 PMID:31145570, PMID:10735635, PMID:23532954, PMID:17694057, PMID:9677057, PMID:7668257 RGD:12801488, RGD:12801475, RGD:12801474, RGD:12801413, RGD:8547743 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO SCS,OMIM:101400;DNA:point mutation:exon:Y103X,Q119P
CTD Direct Evidence: marker/mechanism
CTD PMID:15923834 PMID:23354436, PMID:8988166 RGD:1624353 NCBI chr 6:53,401,241...53,403,235
Ensembl chr 6:53,401,109...53,403,214
JBrowse link
Carpenter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bag2 BAG cochaperone 2 ISO ClinVar Annotator: match by term: Carpenter syndrome ClinVar NCBI chr 9:38,456,487...38,467,120
Ensembl chr 9:38,456,468...38,467,118
JBrowse link
G Megf8 multiple EGF-like-domains 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:82,184,671...82,234,045
Ensembl chr 1:82,185,034...82,234,045
JBrowse link
G Rab23 RAB23, member RAS oncogene family ISO ClinVar Annotator: match by term: Carpenter syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:17503333 PMID:21412941 PMID:23599695 PMID:24458945 PMID:25168863 PMID:25741868 PMID:28492532 NCBI chr 9:38,469,784...38,496,185
Ensembl chr 9:38,470,298...38,495,176
JBrowse link
Carpenter Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bag2 BAG cochaperone 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 1 ClinVar NCBI chr 9:38,456,487...38,467,120
Ensembl chr 9:38,456,468...38,467,118
JBrowse link
G Rab23 RAB23, member RAS oncogene family ISO ClinVar Annotator: match by term: Carpenter syndrome 1
ClinVar Annotator: match by OMIM:201000
OMIM
ClinVar
PMID:17503333 PMID:20358613 PMID:21412941 PMID:23599695 PMID:24458945 PMID:25741868 PMID:28492532 NCBI chr 9:38,469,784...38,496,185
Ensembl chr 9:38,470,298...38,495,176
JBrowse link
Carpenter Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Megf8 multiple EGF-like-domains 8 ISO ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar Annotator: match by OMIM:614976
OMIM
ClinVar
PMID:23063620 PMID:25326635 PMID:25741868 PMID:28492532 NCBI chr 1:82,184,671...82,234,045
Ensembl chr 1:82,185,034...82,234,045
JBrowse link
Greig cephalopolysyndactyly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome, severe
DNA:mutations:exon, intron:multiple
DNA:nonsense mutations, missense mutations, splice-site mutations:exon, intron:multiple
DNA:mutations: :multiple
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:175700
OMIM
ClinVar
CTD
PMID:1879832 PMID:6641002 PMID:9302279 PMID:10441342 PMID:10441570 PMID:10678662 PMID:12414818 PMID:12794692 PMID:14608643 PMID:15739154 PMID:15811011 PMID:16740916 PMID:18000979 PMID:18154020 PMID:18241058 PMID:18435847 PMID:19829694 PMID:20583172 PMID:20672375 PMID:24736735 PMID:25606469 PMID:25741868 PMID:26508445 PMID:27231705 PMID:28492532, PMID:15739154, PMID:10441342, PMID:24736735, PMID:22903559 RGD:12738222, RGD:12738208, RGD:12738205, RGD:12738141 NCBI chr17:52,294,942...52,569,036
Ensembl chr17:52,294,942...52,569,036
JBrowse link
Pfeiffer syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Pfeiffer syndrome OMIM
ClinVar
PMID:7795583 PMID:7874169 PMID:10861678 PMID:10942429 PMID:14564217 PMID:14613973 PMID:16957473 PMID:24127277 PMID:24497711 PMID:25251565 PMID:28492532 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Pfeiffer syndrome
ClinVar Annotator: match by term: Acrocephalosyndactyly, type 5
ClinVar Annotator: match by term: ACS V
OMIM
ClinVar
PMID:7558045 PMID:7581378 PMID:7607643 PMID:7655462 PMID:7719333 PMID:7719344 PMID:7719345 PMID:7773284 PMID:7795583 PMID:7874170 PMID:7987400 PMID:8434615 PMID:8528214 PMID:8644708 PMID:8650126 PMID:8651276 PMID:8755573 PMID:8946174 PMID:8957519 PMID:8958319 PMID:9150725 PMID:9385368 PMID:9462761 PMID:9475591 PMID:9586546 PMID:9605588 PMID:9700203 PMID:9714439 PMID:9719378 PMID:10076886 PMID:10076887 PMID:10394936 PMID:10406670 PMID:10541159 PMID:10633130 PMID:10851026 PMID:10874645 PMID:10945669 PMID:11121055 PMID:11325814 PMID:11390973 PMID:11781872 PMID:11807866 PMID:12124745 PMID:12400058 PMID:12884424 PMID:12884434 PMID:14499350 PMID:15282208 PMID:15286168 PMID:15316116 PMID:15523615 PMID:15975938 PMID:15996217 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16838304 PMID:17525745 PMID:17803937 PMID:18391498 PMID:18552176 PMID:18618990 PMID:19066959 PMID:20133659 PMID:20301628 PMID:20503384 PMID:21367659 PMID:22238366 PMID:22558232 PMID:22664175 PMID:23002168 PMID:23348274 PMID:23431754 PMID:23495007 PMID:23546041 PMID:23786770 PMID:23908597 PMID:24036790 PMID:24127277 PMID:24489893 PMID:24656465 PMID:25157968 PMID:25271085 PMID:25361936 PMID:25741868 PMID:25759925 PMID:25759927 PMID:25867380 PMID:26289989 PMID:26362256 PMID:26380986 PMID:26619011 PMID:27028366 PMID:27481450 PMID:27683237 PMID:27803855 PMID:28492532 PMID:31145570 PMID:270283566 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
Robinow Sorauf Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Twist1 twist family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Robinow-Sorauf syndrome
ClinVar Annotator: match by OMIM:180750
OMIM
ClinVar
PMID:1240778 PMID:10465122 PMID:12791045 PMID:16251895 PMID:18391498 PMID:28492532 NCBI chr 6:53,401,241...53,403,235
Ensembl chr 6:53,401,109...53,403,214
JBrowse link
Saethre-Chotzen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Saethre-Chotzen syndrome
ClinVar Annotator: match by term: ACS III
ClinVar
OMIM
PMID:7558045 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8651276 PMID:8957519 PMID:9462761 PMID:9585583 PMID:9719378 PMID:10851026 PMID:11121055 PMID:11390973 PMID:11781872 PMID:12124745 PMID:14499350 PMID:15975938 PMID:16158432 PMID:16440883 PMID:16838304 PMID:17264867 PMID:17525745 PMID:18552176 PMID:20301628 PMID:21367659 PMID:22238366 PMID:22664175 PMID:23002168 PMID:23495007 PMID:23546041 PMID:24127277 PMID:24489893 PMID:24728327 PMID:25157968 PMID:25271085 PMID:25425289 PMID:25741868 PMID:25867380 PMID:26380986 PMID:26429889 PMID:26467025 PMID:26619011 PMID:28492532 PMID:31145570 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Saethre-Chotzen syndrome ClinVar PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 PMID:9279764 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9843059 PMID:9950359 PMID:10094188 PMID:10861678 PMID:11424131 PMID:11746040 PMID:14613973 PMID:15241680 PMID:15915095 PMID:17552943 PMID:19215249 PMID:22016144 PMID:22622662 PMID:24728327 PMID:25741868 PMID:26740388 PMID:28492532 PMID:32238909 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Saethre-Chotzen syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:8968762 PMID:8988166 PMID:8988167 PMID:9259286 PMID:9934984 PMID:10649491 PMID:11248247 PMID:11474656 PMID:11754069 PMID:11977182 PMID:19373776 PMID:20643727 PMID:24127277 PMID:25741868 PMID:25741869 PMID:28492532 PMID:31837199 NCBI chr 6:53,401,241...53,403,235
Ensembl chr 6:53,401,109...53,403,214
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      chromosomal duplication syndrome 746
        syndactyly 59
          acrocephalosyndactylia 8
            Cardiocranial Syndrome 0
            Carpenter syndrome + 3
            Goodman Camptodactyly 0
            Greig cephalopolysyndactyly syndrome 1
            Maroteaux Fonfria Syndrome 0
            Pfeiffer syndrome 2
            Robinow Sorauf Syndrome 1
            Saethre-Chotzen syndrome 3
            Sakati-Nyhan syndrome 0
            Summitt Syndrome 0
            Vogt Cephalodactyly 0
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      musculoskeletal system disease 5283
        connective tissue disease 3626
          bone disease 2987
            bone development disease 1312
              dysostosis 337
                synostosis 227
                  craniosynostosis 173
                    acrocephalosyndactylia 8
                      Cardiocranial Syndrome 0
                      Carpenter syndrome + 3
                      Goodman Camptodactyly 0
                      Greig cephalopolysyndactyly syndrome 1
                      Maroteaux Fonfria Syndrome 0
                      Pfeiffer syndrome 2
                      Robinow Sorauf Syndrome 1
                      Saethre-Chotzen syndrome 3
                      Sakati-Nyhan syndrome 0
                      Summitt Syndrome 0
                      Vogt Cephalodactyly 0
paths to the root