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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:spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis
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Accession:DOID:0112290 term browser browse the term
Definition:A syndrome characterized by early-onset retinal degeneration, sensorineural hearing loss, short stature, vertebral anomalies, epiphyseal dysplasia, and motor and intellectual delay that has_material_basis_in homozygous or compound heterozygous mutation in NMNAT1 on chromosome 1p36.22. (DO)
Synonyms:exact_synonym: SHILCA;   SHILCA Syndrome
 primary_id: OMIM:619260
 alt_id: DOID:9001252
For additional species annotation, visit the Alliance of Genome Resources.


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spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: SHILCA SYNDROME OMIM
ClinVar
PMID:32533184 NCBI chr 5:166,409,460...166,430,291
Ensembl chr 5:166,409,461...166,430,254
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    syndrome 8015
      spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis 1
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        central nervous system disease 10352
          brain disease 9711
            disease of mental health 7018
              developmental disorder of mental health 4361
                specific developmental disorder 3621
                  intellectual disability 3433
                    spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis 1
paths to the root