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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 Hyalinosis;   Murray Syndrome;   Puretic Syndrome;   Puretic Syndromes;   hyaline fibromatosis syndromes;   infantile systemic hyalinoses;   inherited systemic hyalinosis;   juvenile hyaline fibromatoses;   juvenile hyalinoses;   systemic hyalinoses;   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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyaline fibromatosis syndrome
OMIM
CTD
ClinVar
PMID:12973667 PMID:14508707 PMID:15725249 PMID:20331448 PMID:22383261 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 18246
    sensory system disease 6520
      skin disease 3877
        Genetic Skin Diseases 1583
          hyaline fibromatosis syndrome 1
Path 2
Term Annotations click to browse term
  disease 18246
    Developmental Disease 13102
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11857
        genetic disease 11365
          monogenic disease 8941
            autosomal genetic disease 7989
              autosomal recessive disease 4968
                hyaline fibromatosis syndrome 1
paths to the root