ONTOLOGY REPORT - ANNOTATIONS


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: DOID:9008685;   MESH:C538177;   OMIM:200990;   RDO:0000533;   RDO:0004119
 xref: GARD:5721
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acrocallosal syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep41 centrosomal protein 41 JBrowse link 4 57,966,783 58,006,931 RGD:8554872
G Foxg1 forkhead box G1 JBrowse link 6 69,971,227 69,974,037 RGD:11554173
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:7240710
RGD:8554872
RGD:11068757
RGD:11553832
RGD:11554173
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:8554872
G Ticrr TOPBP1-interacting checkpoint and replication regulator JBrowse link 1 141,391,738 141,433,615 RGD:8554872
Joubert Syndrome 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      acrocallosal syndrome 5
        Joubert Syndrome 12 1
Path 2
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        Congenital Abnormalities 3150
          Nervous System Malformations 663
            Agenesis of Corpus Callosum 64
              acrocallosal syndrome 5
                Joubert Syndrome 12 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.