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Term:
Systemic Hyalinosis (DOID:9005079)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1)
Parent Terms Term With Siblings Child Terms
Absence of Fingerprints  
Actinic Prurigo  
Albinism +   
Annular Erythema 
arterial tortuosity syndrome  
atopic dermatitis +   
Atrophia Maculosa Varioliformis Cutis, Familial 
AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS  
autosomal recessive congenital ichthyosis +   
Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant 
Bloch-Sulzberger syndrome +   
bullous congenital ichthyosiform erythroderma  
Buschke-Ollendorff Syndrome  
Collagenosis, Familial Reactive Perforating 
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
Cutaneous Bullous Amyloidosis 
cutaneous porphyria  
cutis laxa +   
Dowling-Degos disease +   
dyschromatosis universalis hereditaria +   
dyskeratosis congenita +   
ectodermal dysplasia +   
Ehlers-Danlos syndrome +   
epidermolysis bullosa +   
erythrokeratodermia variabilis +   
Erythrokeratodermia with Ataxia  
Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like  
Follicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts 
Gerodermia Osteodysplastica  
Hailey-Hailey disease  
Hepatic Porphyrias +   
Hereditary Autoinflammatory Diseases +   
hereditary mucosal leukokeratosis  
Histiocytic Dermatoarthritis 
Hyaluronan Metabolism, Defect in 
ichthyosis vulgaris +   
Isolated Osteopoikilosis 
Juvenile Spring Eruption of Ears 
Keratolytic Winter Erythema  
keratosis follicularis +   
Keratosis Follicularis Spinulosa Decalvans, X-Linked  
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma  
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
lipoid proteinosis  
monilethrix +   
Muir-Torre syndrome  
Multiple Noduli Cutanei with Urinary Tract Abnormalities 
Oculotrichodysplasia 
orofaciodigital syndrome IX  
palmoplantar keratosis +   
Parana Hard Skin Syndrome 
Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair 
peeling skin syndrome +   
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial 
Plasminogen Deficiency, Type I  
Poikiloderma, Hereditary Sclerosing +   
porokeratosis +   
primary cutaneous amyloidosis  
Primary Localized Cutaneous Amyloidosis, 2  
Primary Localized Cutaneous Amyloidosis, 3  
Progressive Osseous Heteroplasia  
Progressive Vitiligo with Mental Retardation and Urethral Duplication 
Prolidase Deficiency  
pseudoxanthoma elasticum +   
Reticulate Pigmentary Disorder, with Systemic Manifestations  
Rothmund-Thomson syndrome +   
Sjogren-Larsson syndrome +   
Skin Fragility-Woolly Hair Syndrome  
Stiff Skin Syndrome  
Storm 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.
Trichothiodystrophy Syndromes +   
Vohwinkel Syndrome, Variant Form  
X-linked ichthyosis +   
xeroderma pigmentosum +   

Synonyms
Exact Synonyms: Fibromatosis Hyalinica Multiplex Juvenilis ;   Fibromatosis Juvenile Hyaline ;   HFS ;   Hyaline Fibromatosis Syndrome ;   Hyaline Fibromatosis Syndromes ;   Infantile Systemic Hyalinoses ;   Infantile Systemic Hyalinosis ;   Juvenile Hyaline Fibromatoses ;   Juvenile Hyalinoses ;   Juvenile Hyalinosis ;   Murray Syndrome ;   Puretic Syndrome ;   Puretic Syndromes ;   Systemic Hyalinoses ;   Systemic Juvenile Hyalinoses ;   Systemic Juvenile Hyalinosis
Primary IDs: MESH:D057770
Alternate IDs: OMIM:228600 ;   RDO:0007793
Definition Sources: MESH:D057770

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