ONTOLOGY REPORT - ANNOTATIONS


Term:Donnai-Barrow syndrome
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Accession:DOID:0090144 term browser browse the term
Definition:An autosomal recessive disease 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 LRP2 gene 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;   Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness;   Diaphragmatic hernia-exomphalos-hypertelorism syndrome;   FOAR syndrome;   Holmes-Schepens 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;   RDO:0001958
 xref: GARD:1899;   ORDO:2143
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Donnai-Barrow syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmbrd1 LMBR1 domain containing 1 JBrowse link 9 30,939,555 31,038,381 RGD:8554872
G Lrp2 LDL receptor related protein 2 JBrowse link 3 55,665,153 55,822,484 RGD:7240710
RGD:8554872

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Path 1
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  disease 14875
    syndrome 4220
      Donnai-Barrow syndrome 2
Path 2
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  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        peripheral nervous system disease 2009
          neuropathy 1830
            neuromuscular disease 1411
              muscular disease 908
                diaphragm disease 94
                  Diaphragmatic Hernia 94
                    congenital diaphragmatic hernia 53
                      Donnai-Barrow syndrome 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.