Skip navigation

Disease Hyalinosis, Systemic

Name Hyalinosis, Systemic
Synonyms Fibromatosis Hyalinica Multiplex Juvenilis | Fibromatosis Juvenile Hyaline | Fibromatosis, Juvenile Hyaline | Fibromatosis Syndrome, Hyaline | Fibromatosis Syndromes, Hyaline | HFS | Hyaline Fibromatosis Juvenile | Hyaline Fibromatosis, Juvenile | Hyaline Fibromatosis Syndrome | Hyaline Fibromatosis Syndromes | Hyalinoses, Infantile Systemic | Hyalinoses, Juvenile | Hyalinoses, Systemic | Hyalinoses, Systemic Juvenile | Hyalinosis, Infantile Systemic | Hyalinosis, Juvenile | HYALINOSIS, SYSTEMIC | Hyalinosis, Systemic Juvenile | Infantile Systemic Hyalinoses | Infantile Systemic Hyalinosis | Juvenile Hyaline Fibromatoses | Juvenile Hyaline Fibromatosis | Juvenile Hyalinoses | Juvenile Hyalinoses, Systemic | Juvenile Hyalinosis | Juvenile Hyalinosis, Systemic | Murray Syndrome | Puretic Syndrome | Puretic Syndromes | Syndrome, Hyaline Fibromatosis | Syndrome, Murray | Syndrome, Puretic | Syndromes, Hyaline Fibromatosis | Syndromes, Puretic | Systemic Hyalinoses | Systemic Hyalinoses, Infantile | Systemic Hyalinosis | Systemic Hyalinosis, Infantile | Systemic Juvenile Hyalinoses | Systemic Juvenile Hyalinosis
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.
Categories Genetic disease (inborn) | Skin disease
MeSH® ID D057770
OMIM® ID 228600

Top ↑ Ancestors

1. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Skin Diseases, Genetic Has associated chemicals Has associated genes Has associated exposure references Hyalinosis, Systemic Has associated chemicals Has associated genes
2. DiseasesSkin and Connective Tissue Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Diseases, Genetic Has associated chemicals Has associated genes Has associated exposure references Hyalinosis, Systemic Has associated chemicals Has associated genes

Top ↑ Descendants

None.