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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 the ANTXR2 gene on chromosome 4q21.21. (DO)
Synonyms:exact_synonym: ANTXR2-RELATED CONDITION;   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: MIM:228600
 xref: NCI:C98297;   ORDO:498474


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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: ANTXR2-related condition | ClinVar Annotator: match by term: Hyaline fibromatosis syndrome		 OMIM
CTD
ClinVar		 PMID:12973667 PMID:14508707 PMID:15725249 PMID:20331448 PMID:22383261 More... NCBI chr14:11,541,718...11,682,110
Ensembl chr14:11,541,772...11,682,094 		JBrowse link
G B4galt1 beta-1,4-galactosyltransferase 1 ISO ClinVar Annotator: match by term: Hyalinosis, Inherited Systemic ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:55,935,614...55,982,461
Ensembl chr 5:55,935,615...55,982,461 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      musculoskeletal system disease 8463
        connective tissue disease 5917
          hyaline fibromatosis syndrome 2
Path 2
Term Annotations click to browse term
  disease 19137
    Developmental Disease 14663
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13711
        genetic disease 13376
          monogenic disease 10925
            autosomal genetic disease 10412
              autosomal recessive disease 6971
                hyaline fibromatosis syndrome 2
paths to the root