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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 NCBI chr 4:57,966,783...58,006,931
Ensembl chr 4:57,966,783...58,006,839
JBrowse link
G Foxg1 forkhead box G1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18627055 NCBI chr 6:69,971,227...69,974,037
Ensembl chr 6:69,971,227...69,974,037
JBrowse link
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Acrocallosal syndrome
ClinVar Annotator: match by term: Acrocallosal syndrome, Schinzel type
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
OMIM
ClinVar
CTD
PMID:18414213 PMID:19666503 PMID:21552264 PMID:21633164 PMID:22246503 PMID:23125460 PMID:24033266 PMID:25131622 PMID:25741868 PMID:26092869 PMID:26174511 PMID:26633542 PMID:26648833 PMID:27081521 PMID:28492532 PMID:29321670 PMID:29915382, PMID:21552264, PMID:23125460 RGD:11068757, RGD:11553832 NCBI chr 1:141,434,183...141,452,592
Ensembl chr 1:141,434,625...141,451,075
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 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
G Ticrr TOPBP1-interacting checkpoint and replication regulator ISO ClinVar Annotator: match by term: Acrocallosal syndrome, Schinzel type ClinVar NCBI chr 1:141,391,738...141,433,615
Ensembl chr 1:141,391,262...141,433,109
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 1:141,434,183...141,452,592
Ensembl chr 1:141,434,625...141,451,075
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      acrocallosal syndrome 5
        Joubert Syndrome 12 1
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        Congenital Abnormalities 4795
          Nervous System Malformations 1102
            Agenesis of Corpus Callosum 143
              acrocallosal syndrome 5
                Joubert Syndrome 12 1
paths to the root