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RGD uses the Human Disease Ontology (DO, 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:Loucks-Innes Syndrome
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Accession:DOID:9005766 term browser browse the term
Synonyms:exact_synonym: DEDSSH;   developmental delay with short stature, dysmorphic features, and sparse hair
 primary_id: OMIM:616901;   RDO:9000360
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
Loucks-Innes Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dph1 diphthamide biosynthesis 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR
ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic features, and sparse hair
PMID:14744934, PMID:24895408, PMID:25558065, PMID:25741868, PMID:26220823 NCBI chr10:62,019,379...62,032,384
Ensembl chr10:62,019,379...62,032,407
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Loucks-Innes Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              Neurodevelopmental Disorders 4582
                Developmental Disabilities 679
                  Loucks-Innes Syndrome 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.