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split hand-foot malformation 1 with sensorineural hearing loss - Ontology Report - Rat Genome Database

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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
 broad_synonym: DLX5-RELATED CONDITION
 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 N Dlx5 distal-less homeobox 5 ISO ClinVar Annotator: match by term: DLX5-related condition | ClinVar Annotator: match by term: Split hand-foot malformation 1 with sensorineural hearing loss OMIM
ClinVar		 PMID:22121204 PMID:25741868 PMID:28492532 NCBI chrNW_004624813:3,760,890...3,765,309
Ensembl chrNW_004624813:3,760,661...3,765,517 		JBrowse link
G G DLX5 distal-less homeobox 5 ISO ClinVar Annotator: match by term: DLX5-related condition | ClinVar Annotator: match by term: Split hand-foot malformation 1 with sensorineural hearing loss OMIM
ClinVar		 PMID:22121204 PMID:25741868 PMID:28492532 Ensembl chr21:52,036,401...52,040,903 JBrowse link
G P DLX5 distal-less homeobox 5 ISO ClinVar Annotator: match by term: DLX5-related condition | ClinVar Annotator: match by term: Split hand-foot malformation 1 with sensorineural hearing loss OMIM
ClinVar		 PMID:22121204 PMID:25741868 PMID:28492532 NCBI chr 9:76,639,915...76,643,689
Ensembl chr 9:76,639,561...76,643,884 		JBrowse link
G S Dlx5 distal-less homeobox 5 ISO ClinVar Annotator: match by term: DLX5-related condition | ClinVar Annotator: match by term: Split hand-foot malformation 1 with sensorineural hearing loss OMIM
ClinVar		 PMID:22121204 PMID:25741868 PMID:28492532 NCBI chrNW_004936585:3,462,063...3,466,641
Ensembl chrNW_004936585:3,461,944...3,466,641 		JBrowse link
G D DLX5 distal-less homeobox 5 ISO ClinVar Annotator: match by term: DLX5-related condition | ClinVar Annotator: match by term: Split hand-foot malformation 1 with sensorineural hearing loss OMIM
ClinVar		 PMID:22121204 PMID:25741868 PMID:28492532 NCBI chr14:22,080,351...22,085,188
Ensembl chr14:22,080,699...22,084,867 		JBrowse link
G B DLX5 distal-less homeobox 5 ISO ClinVar Annotator: match by term: DLX5-related condition | ClinVar Annotator: match by term: Split hand-foot malformation 1 with sensorineural hearing loss OMIM
ClinVar		 PMID:22121204 PMID:25741868 PMID:28492532 NCBI chr 7:88,972,066...88,977,588
Ensembl chr 7:102,555,267...102,561,186 		JBrowse link
G C Dlx5 distal-less homeobox 5 ISO ClinVar Annotator: match by term: DLX5-related condition | ClinVar Annotator: match by term: Split hand-foot malformation 1 with sensorineural hearing loss OMIM
ClinVar		 PMID:22121204 PMID:25741868 PMID:28492532 NCBI chrNW_004955432:13,429,832...13,434,160
Ensembl chrNW_004955432:13,429,415...13,434,258 		JBrowse link
G R Dlx5 distal-less homeobox 5 ISO ClinVar Annotator: match by term: DLX5-related condition | ClinVar Annotator: match by term: Split hand-foot malformation 1 with sensorineural hearing loss
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:22121204 PMID:25741868 PMID:28492532 NCBI chr 4:35,965,579...35,969,973
Ensembl chr 4:34,999,139...35,003,407 		JBrowse link
G M Dlx5 distal-less homeobox 5 ISO ClinVar Annotator: match by term: DLX5-related condition | ClinVar Annotator: match by term: Split hand-foot malformation 1 with sensorineural hearing loss
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:22121204 PMID:25741868 PMID:28492532 NCBI chr 6:6,877,801...6,882,068
Ensembl chr 6:6,877,805...6,882,085 		JBrowse link
G H DLX5 distal-less homeobox 5 IAGP
EXP		 ClinVar Annotator: match by term: Split hand-foot malformation 1 with sensorineural hearing loss
ClinVar Annotator: match by term: DLX5-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:22121204 PMID:25741868 PMID:28492532 NCBI chr 7:97,020,396...97,024,831
Ensembl chr 7:97,020,396...97,024,950 		JBrowse link
G H LOC126860116 CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:96650255-96651454 IAGP ClinVar Annotator: match by term: Split hand-foot malformation 1 with sensorineural hearing loss
ClinVar Annotator: match by term: DLX5-related condition		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:97,020,943...97,022,142 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    physical disorder 54044
      Congenital Foot Deformities 1941
        split hand-foot malformation 1 with sensorineural hearing loss 11
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        Neurologic Manifestations 126178
          sensory system disease 89068
            Otorhinolaryngologic Diseases 19638
              auditory system disease 11215
                Hearing Disorders 8892
                  Hearing Loss 8838
                    sensorineural hearing loss 6611
                      split hand-foot malformation 1 with sensorineural hearing loss 11
paths to the root