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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 9:30,939,555...31,038,381
Ensembl chr 9:30,939,555...31,038,379
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:11964399, PMID:11994745, PMID:12923867, PMID:16828734, PMID:17632512, PMID:18414213, PMID:18553518, PMID:20359920, PMID:23033978, PMID:23992033, PMID:24319098, PMID:24406863, PMID:24876117, PMID:25158045, PMID:25326635, PMID:25682901, PMID:25741868, PMID:26118977, PMID:26529358, PMID:28492532, PMID:32238909 NCBI chr 3:55,665,153...55,822,484
Ensembl chr 3:55,665,145...55,822,551
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      Donnai-Barrow syndrome 2
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        peripheral nervous system disease 2476
          neuropathy 2297
            neuromuscular disease 1778
              muscular disease 1201
                diaphragm disease 119
                  Diaphragmatic Hernia 118
                    congenital diaphragmatic hernia 57
                      Donnai-Barrow syndrome 2
paths to the root

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