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ONTOLOGY REPORT - ANNOTATIONS


Term:hydrolethalus syndrome
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Accession:DOID:0050779 term browser browse the term
Definition:An autosomal recessive disease characterized by mulitple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation. (DO)
Synonyms:exact_synonym: Salonen-Herva-Norio syndrome
 primary_id: MESH:C536079
 alt_id: RDO:0001505
 xref: GARD:6683;   OMIM:PS236680;   ORDO:2189
For additional species annotation, visit the Alliance of Genome Resources.


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hydrolethalus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hyls1 HYLS1, centriolar and ciliogenesis associated JBrowse link 8 36,763,470 36,772,199 RGD:8554872
RGD:13592920
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:11554173
G Pus3 pseudouridine synthase 3 JBrowse link 8 36,760,874 36,769,167 RGD:8554872
Hydrolethalus Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hyls1 HYLS1, centriolar and ciliogenesis associated JBrowse link 8 36,763,470 36,772,199 RGD:7240710
RGD:8554872
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:11554173
G Pus3 pseudouridine synthase 3 JBrowse link 8 36,760,874 36,769,167 RGD:8554872
Hydrolethalus Syndrome 2 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:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      hydrolethalus syndrome 3
        Hydrolethalus Syndrome 1 3
        Hydrolethalus Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        Congenital Abnormalities 3137
          Musculoskeletal Abnormalities 1185
            Congenital Limb Deformities 340
              Upper Extremity Deformities, Congenital 76
                Congenital Hand Deformities 62
                  hydrolethalus syndrome 3
                    Hydrolethalus Syndrome 1 3
                    Hydrolethalus Syndrome 2 1
paths to the root