ONTOLOGY REPORT - ANNOTATIONS


Term:Matthew-Wood syndrome
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Accession:DOID:0050819 term browser browse the term
Definition:An autosomal genetic disease that is characterized by microphthalmia or anophthalmia, pulmonary agenesis, and diaphragmatic defect. (DO)
Synonyms:exact_synonym: Anophthalmia with Pulmonary Hypoplasia;   Anophthalmia, Clinical, With Mild Facial Dysmorphism And Variable Malformations Of The Lung, Heart, And Diaphragm;   Anophthalmia-Microphthalmia And Pulmonary Hypoplasia;   ISOLATED ANOPHTHALMIA-MICROPHTHALMIA SYNDROME;   MCOPS9;   Microphthalmia, Syndromic 9;   Spear Syndrome;   microphthalmia syndromic type 9
 narrow_synonym: MCOPCB8;   PMD MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8;   PULMONARY AGENESIS, MICROPHTHALMIA, AND DIAPHRAGMATIC DEFECT
 primary_id: MESH:C537768
 alt_id: OMIM:601186;   RDO:0003666
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Matthew-Wood syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh1a3 aldehyde dehydrogenase 1 family, member A3 JBrowse link 1 127,302,920 127,337,828 RGD:8554872
G Stra6 stimulated by retinoic acid 6 JBrowse link 8 62,925,364 62,944,438 RGD:7240710
RGD:8554872
RGD:11554173
G Wnt7b Wnt family member 7B JBrowse link 7 126,423,418 126,465,724 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      respiratory system disease 2375
        lung disease 1370
          Matthew-Wood syndrome 3
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        sensory system disease 4244
          eye and adnexa disease 1985
            eye disease 1985
              Eye Abnormalities 283
                microphthalmia 89
                  Matthew-Wood syndrome 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.