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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: MIM:220600;   RDO:0014230
 xref: ORDO:71271


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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 term: Split hand-foot malformation 1 with sensorineural hearing loss
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:22121204 NCBI chr 4:34,999,139...35,003,504
Ensembl chr 4:34,999,139...35,003,407 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    physical disorder 5170
      Congenital Foot Deformities 189
        split hand-foot malformation 1 with sensorineural hearing loss 1
Path 2
Term Annotations click to browse term
  disease 19050
    disease of anatomical entity 18384
      nervous system disease 14257
        Neurologic Manifestations 10336
          sensory system disease 7255
            Otorhinolaryngologic Diseases 1790
              auditory system disease 1052
                Hearing Disorders 839
                  Hearing Loss 834
                    sensorineural hearing loss 644
                      split hand-foot malformation 1 with sensorineural hearing loss 1
paths to the root