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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: 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 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 15553
    syndrome 5224
      acrocallosal syndrome 5
        Joubert Syndrome 12 1
Path 2
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        Congenital Abnormalities 3730
          Nervous System Malformations 758
            Agenesis of Corpus Callosum 69
              acrocallosal syndrome 5
                Joubert Syndrome 12 1
paths to the root

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