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ONTOLOGY REPORT - ANNOTATIONS


Term:hydrolethalus syndrome 1
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Accession:DOID:0111355 term browser browse the term
Definition:A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in HYLS1 on chromosome 11q24.2. (DO)
Synonyms:exact_synonym: HLS1
 primary_id: MESH:C565504
 alt_id: DOID:9007371;   OMIM:236680;   RDO:0014120
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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

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Path 1
Term Annotations click to browse term
  disease 15469
    syndrome 5318
      hydrolethalus syndrome 3
        hydrolethalus syndrome 1 3
Path 2
Term Annotations click to browse term
  disease 15469
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7614
        Congenital Abnormalities 3744
          Musculoskeletal Abnormalities 1340
            Congenital Limb Deformities 413
              Upper Extremity Deformities, Congenital 81
                Congenital Hand Deformities 66
                  hydrolethalus syndrome 3
                    hydrolethalus syndrome 1 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.