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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;   FOAR syndrome;   Holmes-Schepens syndrome;   LRP2-RELATED CONDITION;   diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness;   diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria;   diaphragmatic hernia-exomphalos-corpus callosum agenesis;   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


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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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:222448
ClinVar Annotator: match by term: Diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria | ClinVar Annotator: match by term: Donnai-Barrow syndrome | ClinVar Annotator: match by term: LRP2-related condition		 OMIM
CTD
MouseDO
ClinVar		 PMID:8266995 PMID:9475100 PMID:9536098 PMID:12923867 PMID:16199547 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 18969
    syndrome 10889
      Donnai-Barrow syndrome 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        peripheral nervous system disease 4124
          neuropathy 3907
            neuromuscular disease 3059
              muscular disease 2148
                diaphragm disease 125
                  Diaphragmatic Hernia 124
                    congenital diaphragmatic hernia 67
                      Donnai-Barrow syndrome 2
paths to the root