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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:Kniest Like Dysplasia Lethal
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Accession:DOID:9005084 term browser browse the term
Synonyms:exact_synonym: Arthrosis, flat face, hypotonia, short neck and macrocephaly;   lethal Kniest-like syndrome
 primary_id: MESH:C537208
 alt_id: OMIM:245190;   RDO:0002997
For additional species annotation, visit the Alliance of Genome Resources.


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Kniest Like Dysplasia Lethal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspg2 perlecan (heparan sulfate proteoglycan 2) ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:11279527 PMID:24088041 PMID:24781210 PMID:25504735 PMID:25741868 More... NCBI chr 4:137,468,751...137,570,630
Ensembl chr 4:137,468,769...137,570,630
JBrowse link
G Ldlrad2 low density lipoprotein receptor class A domain containing 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 4:137,570,875...137,582,118
Ensembl chr 4:137,570,876...137,582,104
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14517
    syndrome 7654
      Hereditary Neoplastic Syndromes 916
        hereditary multiple exostoses 9
          Kniest Like Dysplasia Lethal 2
Path 2
Term Annotations click to browse term
  disease 14517
    Developmental Disease 10791
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9309
        genetic disease 8841
          monogenic disease 7126
            autosomal genetic disease 6293
              autosomal dominant disease 4488
                complex cortical dysplasia with other brain malformations 1202
                  Malformations of Cortical Development, Group I 1065
                    Macrocephaly 68
                      Kniest Like Dysplasia Lethal 2
paths to the root