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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:acrocallosal syndrome
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Accession:DOID:9250 term browser browse the term
Definition:A syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation. (DO)
Synonyms:exact_synonym: ACLS;   Acrocallosal syndromes;   SCHINZEL ACROCALLOSAL SYNDROME;   Schinzel syndrome 1;   acrocallosal syndrome, Schinzel type;   hallux duplication, postaxial polydactyly, and absence of corpus callosum
 narrow_synonym: Joubert syndrome 12/15, digenic;   SCHINZEL ACROCALLOSAL SYNDROME JOUBERT SYNDROME 12
 primary_id: MESH:D055673
 alt_id: MESH:C538177;   MIM:200990
 xref: GARD:5721;   NCI:C84531


show annotations for term's descendants           Sort by:
acrocallosal syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep41 centrosomal protein 41 ISO ClinVar Annotator: match by term: Joubert syndrome 12/15, digenic ClinVar PMID:22246503 PMID:28492532 NCBI chr 4:59,271,218...59,312,343
Ensembl chr 4:59,271,218...59,310,668 		JBrowse link
G Foxg1 forkhead box G1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18627055 NCBI chr 6:66,674,797...66,677,611
Ensembl chr 6:66,666,587...66,678,607 		JBrowse link
G Kif7 kinesin family member 7 ISO
ISS		 DNA:missense,frameshift mutations:cds:
DNA:mutations:cds,splice junction:
CTD Direct Evidence: marker/mechanism
OMIM:200990
ClinVar Annotator: match by term: Acrocallosal syndrome | ClinVar Annotator: match by term: HALLUX DUPLICATION, POSTAXIAL POLYDACTYLY, AND ABSENCE OF CORPUS CALLOSUM | ClinVar Annotator: match by term: Joubert syndrome 12/15, digenic | ClinVar Annotator: match by term: Schinzel syndrome 1		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19666503 More... RGD:11068757, RGD:11553832 NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO ClinVar Annotator: match by term: Acrocallosal syndrome ClinVar PMID:25741868 PMID:29321670 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170 		JBrowse link
G Ticrr TOPBP1-interacting checkpoint and replication regulator ISO ClinVar Annotator: match by term: Acrocallosal syndrome ClinVar NCBI chr 1:133,597,618...133,639,513
Ensembl chr 1:133,597,716...133,639,523 		JBrowse link
Joubert Syndrome 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Joubert syndrome 12 ClinVar PMID:21633164 PMID:22246503 PMID:25741868 PMID:26174511 PMID:28492532 More... NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    syndrome 11370
      acrocallosal syndrome 5
        Joubert Syndrome 12 1
Path 2
Term Annotations click to browse term
  disease 19134
    Developmental Disease 14661
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13710
        genetic disease 13375
          polygenic disease 740
            digenic disease 740
              acrocallosal syndrome 5
                Joubert Syndrome 12 1
paths to the root