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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:hyaline fibromatosis syndrome
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Accession:DOID:0111669 term browser browse the term
Definition:A connective tissue disease characterized by abnormal growth of hyalinized fibrous tissue especially around the subcutaneous regions on the scalp, ears, neck, face, hands, and feet, gingival hypertrophy, joint contractures, and osteolytic bone lesions that has_material_basis_in homozygous or compound heterozygous mutation in ANTXR2 on chromosome 4q21.21. (DO)
Synonyms:exact_synonym: Fibromatosis Hyalinica Multiplex Juvenilis;   Fibromatosis Juvenile Hyaline;   HFS;   Infantile Systemic Hyalinosis;   Juvenile Hyalinoses;   Juvenile Hyalinosis;   Murray Syndrome;   Puretic Syndrome;   Puretic Syndromes;   Systemic Hyalinoses;   hyaline fibromatosis syndromes;   infantile systemic hyalinoses;   inherited systemic hyalinosis;   juvenile hyaline fibromatoses;   systemic hyalinosis;   systemic juvenile hyalinoses;   systemic juvenile hyalinosis
 primary_id: MESH:D057770
 alt_id: OMIM:228600
 xref: NCI:C98297;   ORDO:498474
For additional species annotation, visit the Alliance of Genome Resources.



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hyaline fibromatosis syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr2 ANTXR cell adhesion molecule 2 ISO ClinVar Annotator: match by OMIM:228600
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyaline fibromatosis syndrome
OMIM
ClinVar
CTD
PMID:12973667 PMID:14508707 PMID:20331448 PMID:22383261 PMID:23386947 More... NCBI chr14:11,542,266...11,682,112
Ensembl chr14:11,541,772...11,682,094
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    sensory system disease 5680
      skin disease 2993
        Genetic Skin Diseases 1051
          hyaline fibromatosis syndrome 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal recessive disease 3496
                hyaline fibromatosis syndrome 1
paths to the root