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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: MIM:245190;   RDO:0002997


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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:9536098 PMID:11279527 PMID:16199547 PMID:16927315 PMID:17576681 More... NCBI chr 4:137,196,062...137,297,941
Ensembl chr 4:137,196,080...137,297,941 		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 4:137,298,185...137,309,429
Ensembl chr 4:137,298,187...137,309,415 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16237
    disease of cellular proliferation 7743
      Hereditary Neoplastic Syndromes 1525
        hereditary multiple exostoses 33
          Kniest Like Dysplasia Lethal 2
Path 2
Term Annotations click to browse term
  disease 16237
    Developmental Disease 14027
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13046
        genetic disease 12735
          monogenic disease 10873
            autosomal genetic disease 10388
              autosomal dominant disease 6727
                complex cortical dysplasia with other brain malformations 1646
                  Malformations of Cortical Development, Group I 1403
                    Macrocephaly 89
                      Kniest Like Dysplasia Lethal 2
paths to the root