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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:Autosomal recessive syndrome characterized by hypogenesis or agenesis of CORPUS CALLOSUM. Clinical features include MENTAL RETARDATION; CRANIOFACIAL ABNORMALITIES; digital malformations, and growth retardation.
Synonyms:exact_synonym: ACLS;   Acrocallosal Syndrome, Schinzel Type;   Acrocallosal syndromes;   Hallux duplication, postaxial polydactyly, and absence of corpus callosum;   SCHINZEL ACROCALLOSAL SYNDROME;   Schinzel syndrome 1
 narrow_synonym: Joubert syndrome 12/15, digenic;   SCHINZEL ACROCALLOSAL SYNDROME JOUBERT SYNDROME 12
 primary_id: MESH:D055673
 alt_id: MESH:C538177;   OMIM:200990;   RDO:0000533;   RDO:0004119
 xref: GARD:5721;   NCI:C84531
For additional species annotation, visit the Alliance of Genome Resources.



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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 ClinVar Annotator: match by term: Acrocallosal syndrome
DNA:missense,frameshift mutations:cds:
DNA:mutations:cds,splice junction:
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Joubert syndrome 12/15, digenic
ClinVar Annotator: match by term: Acrocallosal syndrome, Schinzel type
OMIM
ClinVar
CTD
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, Schinzel type 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, Schinzel type 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 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 17289
    syndrome 8166
      acrocallosal syndrome 5
        Joubert Syndrome 12 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        Congenital Abnormalities 5603
          Nervous System Malformations 1653
            Agenesis of Corpus Callosum 196
              acrocallosal syndrome 5
                Joubert Syndrome 12 1
paths to the root