Search on: FIBROMATOSIS SYNDROME, HYALINE 
Descriptors Found: 1
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Descriptor English:   Hyalinosis, Systemic 
Descriptor Spanish:   Hialinosis Sistémica 
Descriptor Portuguese:   Hialinose Sistêmica 
Synonyms English:   Fibromatosis Hyalinica Multiplex Juvenilis
Fibromatosis Juvenile Hyaline
Fibromatosis Syndrome, Hyaline
Fibromatosis Syndromes, Hyaline
Fibromatosis, Juvenile Hyaline
Hyaline Fibromatosis Juvenile
Hyaline Fibromatosis Syndrome
Hyaline Fibromatosis Syndromes
Hyaline Fibromatosis, Juvenile
Hyalinoses, Infantile Systemic
Hyalinoses, Juvenile
Hyalinoses, Systemic
Hyalinoses, Systemic Juvenile
Hyalinosis, Infantile Systemic
Hyalinosis, Juvenile
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  
Tree Number:   C16.320.850.368
C17.800.827.384
Definition English:   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. 
Indexing Annotation English:   do not confuse entry term INFANTILE SYSTEMIC HYALINOSIS with HYALINE MEMBRANE DISEASE
See Related English:   Hyaline Membrane Disease
Lipoid Proteinosis of Urbach and Wiethe
 
History Note English:   2011 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
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
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   53998 
Unique Identifier:   D057770 

Occurrence in VHL: 		 

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