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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 Hyaline Fibromatoses;   Juvenile Hyalinoses;   Juvenile Hyalinosis;   Murray Syndrome;   Puretic Syndrome;   Puretic Syndromes;   Systemic Hyalinoses;   Systemic Hyalinosis;   hyaline fibromatosis syndromes;   infantile systemic hyalinoses;   inherited systemic hyalinosis;   systemic juvenile hyalinoses;   systemic juvenile hyalinosis
 primary_id: MESH:D057770
 alt_id: DOID:9005079;   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, PMID:24088041, PMID:25741868, PMID:26633545, PMID:28492532 NCBI chr14:13,191,716...13,331,286
Ensembl chr14:13,192,347...13,274,978
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    sensory system disease 5162
      skin disease 2749
        Genetic Skin Diseases 887
          hyaline fibromatosis syndrome 1
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                hyaline fibromatosis syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.