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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.


show annotations for term's descendants           Sort by:
 
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 17014
    physical disorder 2971
      Congenital Foot Deformities 67
        split hand-foot malformation 1 with sensorineural hearing loss 1
Path 2
Term Annotations click to browse term
  disease 17014
    disease of anatomical entity 16363
      nervous system disease 11947
        sensory system disease 5443
          Otorhinolaryngologic Diseases 1295
            auditory system disease 871
              Hearing Disorders 731
                Hearing Loss 727
                  sensorineural hearing loss 607
                    split hand-foot malformation 1 with sensorineural hearing loss 1
paths to the root