Hyaline Fibromatosis Syndrome [systémová hyalinóza]
- Terms
-
infantilní systémová hyalinóza
juvenilní hyalinní fibromatóza
-
Fibromatosis Hyalinica Multiplex Juvenilis
Fibromatosis Juvenile Hyaline
Fibromatosis, Juvenile Hyaline
Hyaline Fibromatosis Juvenile
Hyalinosis, Systemic
Hyalinosis, Systemic Juvenile
Infantile Systemic Hyalinosis
Juvenile Hyaline Fibromatosis
Juvenile Hyalinosis
Murray Syndrome
Puretic Syndrome
Systemic Hyalinosis
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.
- Annotation
- do not confuse entry term INFANTILE SYSTEMIC HYALINOSIS with HYALINE MEMBRANE DISEASE
- DUI
- D057770 MeSH Browser
- CUI
- M0539002
- Previous indexing
- Hyalin (1975-2010)
- History note
- 2011
- Public note
- 2011
Allowable subheadings
- BL
- blood
- CF
- cerebrospinal fluid
- CI
- chemically induced
- CL
- classification
- CO
- complications
- DI
- diagnosis 1
- DG
- diagnostic imaging
- DH
- diet therapy
- DT
- drug therapy
- EC
- economics
- EM
- embryology
- EN
- enzymology
- EP
- epidemiology
- EH
- ethnology
- ET
- etiology
- GE
- genetics
- HI
- history
- IM
- immunology
- ME
- metabolism
- MI
- microbiology
- MO
- mortality
- NU
- nursing 1
- PS
- parasitology
- PA
- pathology
- PP
- physiopathology
- PC
- prevention & control
- PX
- psychology
- RT
- radiotherapy
- RH
- rehabilitation
- SU
- surgery
- TH
- therapy 1
- UR
- urine
- VE
- veterinary
- VI
- virology