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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:split hand-foot malformation 1 with sensorineural hearing loss
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Accession:DOID:0090024 term browser browse the term
Definition:A split-hand/foot malformation characterized by split-hand/foot malformation and sensorineural hearing impairment that has_material_basis_in homozygous mutation in the DLX5 gene on chromosome 7q21. (DO)
Synonyms:exact_synonym: SHFM1D;   SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL RECESSIVE;   congenital deafness and split hands and feet;   congenital deafness with split hands and feet
 primary_id: MESH:C565647
 alt_id: OMIM:220600;   RDO:0014230
 xref: ORDO:71271
For additional species annotation, visit the Alliance of Genome Resources.


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split hand-foot malformation 1 with sensorineural hearing loss term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlx5 distal-less homeobox 5 ISO ClinVar Annotator: match by OMIM:220600 OMIM
ClinVar
PMID:22121204 NCBI chr 4:32,387,741...32,392,085
Ensembl chr 4:32,387,741...32,392,007
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      bone development disease 1335
        split hand-foot malformation 13
          split hand-foot malformation 1 with sensorineural hearing loss 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          Otorhinolaryngologic Diseases 1190
            auditory system disease 754
              Hearing Disorders 614
                Hearing Loss 609
                  sensorineural hearing loss 489
                    split hand-foot malformation 1 with sensorineural hearing loss 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.