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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:Donnai-Barrow syndrome
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Accession:DOID:0090144 term browser browse the term
Definition:A syndrome that is characterized by facial and ocular abnormalities, sensorineural hearing loss, agenesis of the corpus callosum, variable intellectual disability, and proteinuria that has_material_basis_in homozygous or compound heterozygous mutation in the LDL receptor related protein 2 gene (LRP2) on chromosome 2q31. (DO)
Synonyms:exact_synonym: DBS-FOAR syndrome;   Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, Sensorineural Deafness, And Proteinuria;   Diaphragmatic Hernia-Exomphalos-Corpus Callosum Agenesis;   FOAR syndrome;   Holmes-Schepens syndrome;   diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness;   diaphragmatic hernia-exomphalos-hypertelorism syndrome;   diaphragmatic hernia-hypertelorism-myopia-deafness syndrome;   facio-oculo-acoustico-renal syndrome;   faciooculoacousticorenal syndrome;   syndrome of ocular and facial anomalies, telecanthus and deafness
 primary_id: MESH:C536390
 alt_id: OMIM:222448
 xref: GARD:1899;   ORDO:2143
For additional species annotation, visit the Alliance of Genome Resources.



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Donnai-Barrow syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbrd1 LMBR1 domain containing 1 ISO ClinVar Annotator: match by term: Donnai Barrow syndrome ClinVar PMID:19136951 PMID:25741868 PMID:28492532 NCBI chr 9:27,096,387...27,178,095
Ensembl chr 9:27,096,297...27,178,090
JBrowse link
G Lrp2 LDL receptor related protein 2 ISO ClinVar Annotator: match by term: Donnai-Barrow syndrome
ClinVar Annotator: match by term: Donnai Barrow syndrome
ClinVar Annotator: match by OMIM:222448
OMIM
ClinVar
PMID:8266995 PMID:9475100 PMID:12923867 PMID:17632512 PMID:18414213 More... NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17208
    syndrome 8125
      Donnai-Barrow syndrome 2
Path 2
Term Annotations click to browse term
  disease 17208
    disease of anatomical entity 16554
      Urogenital Diseases 4358
        Female Urogenital Diseases and Pregnancy Complications 2047
          Female Urogenital Diseases 1742
            female reproductive system disease 1738
              prolapse of female genital organ 179
                enterocele 179
                  Diaphragmatic Hernia 110
                    congenital diaphragmatic hernia 57
                      Donnai-Barrow syndrome 2
paths to the root