ONTOLOGY REPORT - ANNOTATIONS


Term:Systemic Hyalinosis
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Accession:DOID:9005079 term browser browse the term
Definition:Autosomal recessive disorder characterized by HYALINE deposition in the skin, bone, gastrointestinal tract, muscles and glands; multiple subcutaneous skin nodules; GINGIVAL HYPERTROPHY; and joint CONTRACTURES. Mutations in the capillary morphogenesis protein-2 are associated with the disorder.
Synonyms:exact_synonym: Fibromatosis Hyalinica Multiplex Juvenilis;   Fibromatosis Juvenile Hyaline;   HFS;   Hyaline Fibromatosis Syndrome;   Hyaline Fibromatosis Syndromes;   Infantile Systemic Hyalinoses;   Infantile Systemic Hyalinosis;   Juvenile Hyaline Fibromatoses;   Juvenile Hyalinoses;   Juvenile Hyalinosis;   Murray Syndrome;   Puretic Syndrome;   Puretic Syndromes;   Systemic Hyalinoses;   Systemic Juvenile Hyalinoses;   Systemic Juvenile Hyalinosis
 primary_id: MESH:D057770
 alt_id: OMIM:228600;   RDO:0007793
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Systemic Hyalinosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Antxr2 ANTXR cell adhesion molecule 2 JBrowse link 14 13,191,716 13,331,286 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    sensory system disease 4246
      skin disease 2253
        Genetic Skin Diseases 580
          Systemic Hyalinosis 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          skin disease 2253
            Genetic Skin Diseases 580
              Systemic Hyalinosis 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.