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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:hydrolethalus syndrome
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Accession:DOID:0050779 term browser browse the term
Definition:A syndrome characterized by multiple 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
 xref: EFO:1000033;   GARD:6683;   MESH:C536079;   MIM:PS236680;   MONDO:0006037;   ORDO:2189


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hydrolethalus syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hyls1 HYLS1, centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Hydrolethalus syndrome ClinVar PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 More... NCBI chr 8:42,170,505...42,179,573
Ensembl chr 8:33,912,692...33,921,760 		JBrowse link
G Kif7 kinesin family member 7 ISO
ISS		 CTD Direct Evidence: marker/mechanism CTD
MouseDO		 PMID:21552264 NCBI chr 1:143,041,206...143,067,873
Ensembl chr 1:133,640,065...133,658,576 		JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Hydrolethalus syndrome ClinVar PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 More... NCBI chr 8:42,168,194...42,176,527
Ensembl chr 8:33,911,357...33,918,714 		JBrowse link
hydrolethalus syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hyls1 HYLS1, centriolar and ciliogenesis associated ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hydrolethalus syndrome 1		 OMIM
CTD
ClinVar		 PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 More... NCBI chr 8:42,170,505...42,179,573
Ensembl chr 8:33,912,692...33,921,760 		JBrowse link
G Kif7 kinesin family member 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:143,041,206...143,067,873
Ensembl chr 1:133,640,065...133,658,576 		JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Hydrolethalus syndrome 1 ClinVar PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 More... NCBI chr 8:42,168,194...42,176,527
Ensembl chr 8:33,911,357...33,918,714 		JBrowse link
hydrolethalus syndrome 2 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: Hydrolethalus syndrome 2 OMIM
ClinVar		 PMID:16199547 PMID:19666503 PMID:21552264 PMID:21633164 PMID:25131622 More... NCBI chr 1:143,041,206...143,067,873
Ensembl chr 1:133,640,065...133,658,576 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    syndrome 11404
      hydrolethalus syndrome 3
        hydrolethalus syndrome 1 3
        hydrolethalus syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14674
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        Congenital Abnormalities 7894
          Musculoskeletal Abnormalities 3458
            Congenital Limb Deformities 1068
              Congenital Upper Extremity Deformities 232
                Congenital Hand Deformities 203
                  hydrolethalus syndrome 3
                    hydrolethalus syndrome 1 3
                    hydrolethalus syndrome 2 1
paths to the root