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Ontology Browser

Parent Terms Term With Siblings Child Terms
Hoarseness +     
2,4-Dienoyl-CoA Reductase Deficiency  
Acetyl-Coa Carboxylase Deficiency  
Actinic Prurigo  
Albinism +   
alpha-methylacyl-CoA racemase deficiency  
Annular Erythema 
Apolipoprotein E, Deficiency or Defect of +   
arterial tortuosity syndrome  
Asrar Facharzt Haque Syndrome  
atopic dermatitis +   
Atrophia Maculosa Varioliformis Cutis, Familial 
Autoinflammation with Arthritis and Dyskeratosis  
autosomal recessive congenital ichthyosis +   
Barth syndrome +   
Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant 
Bloch-Sulzberger syndrome +   
bullous congenital ichthyosiform erythroderma  
Buschke-Ollendorff syndrome  
carnitine palmitoyltransferase I deficiency  
carnitine palmitoyltransferase II deficiency +   
carnitine-acylcarnitine translocase deficiency  
cerebrotendinous xanthomatosis  
cherubism +   
CK syndrome  
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
Congenital Lp(A) Deficiency  
Cutaneous Bullous Amyloidosis 
cutaneous porphyria  
cutis laxa +   
Cytosolic Acetoacetyl-CoA Thiolase Deficiency  
D-bifunctional protein deficiency  
Defect in Hyaluronan Metabolism 
Dowling-Degos disease +   
dyschromatosis universalis hereditaria +   
dyskeratosis congenita +   
Dyslipidemias +   
ectodermal dysplasia +   
Ehlers-Danlos syndrome +   
epidermolysis bullosa +   
epidermolytic hyperkeratosis +   
erythrokeratodermia variabilis +   
Erythrokeratodermia with Ataxia 
familial combined hyperlipidemia +   
familial hyperlipidemia +   
Familial Reactive Perforating Collagenosis 
geroderma osteodysplasticum  
Glycosylphosphatidylinositol Deficiency +   
Hailey-Hailey disease  
Hepatic Lipase Deficiency  
Hepatic Porphyrias +   
Hereditary Autoinflammatory Diseases +   
hereditary mucosal leukokeratosis  
Hereditary Sclerosing Poikiloderma +   
Histiocytic Dermatoarthritis 
hyaline fibromatosis syndrome  
Hypertriglyceridemia, Transient Infantile  
hypolipoproteinemia +   
ichthyosis vulgaris +   
Isolated Osteopoikilosis 
Juvenile Spring Eruption of Ears 
Keratolytic Winter Erythema  
keratosis follicularis +   
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma  
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
lipid storage disease +   
lipodystrophy +   
lipoid proteinosis  
An autosomal recessive disorder characterized by glassy degenerative thickening (hyalinosis) of SKIN; MUCOSA; and certain VISCERA. This disorder is caused by mutation in the extracellular matrix protein 1 gene (ECM1). Clinical features include hoarseness and skin eruption due to widespread deposition of HYALIN.
lipomatosis +   
Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency +   
medium chain acyl-CoA dehydrogenase deficiency  
MEND syndrome  
monilethrix +   
Muir-Torre syndrome  
multiple congenital anomalies-hypotonia-seizures syndrome +   
Multiple Noduli Cutanei with Urinary Tract Abnormalities 
Myopathy with Abnormal Lipid Metabolism  
neutral lipid storage disease +   
orofaciodigital syndrome IX  
palmoplantar keratosis +   
Pancreatic Lipase Deficiency  
Parana Hard Skin Syndrome 
Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair 
peeling skin syndrome +   
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial 
Perioral Pigmented Follicular Atrophoderma with Milia and Epidermoid Cysts 
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss  
peroxisomal acyl-CoA oxidase deficiency  
Peroxisomal Fatty Acyl-CoA Reductase 1 Disorder   
Phospholipase A2, Group IVA, Deficiency of  
plasminogen deficiency type I  
poikiloderma with neutropenia  
porokeratosis +   
primary cutaneous amyloidosis +   
progressive osseous heteroplasia  
Progressive Vitiligo with Mental Retardation and Urethral Duplication 
prolidase deficiency  
pseudoxanthoma elasticum +   
Refsum disease +   
Rothmund-Thomson syndrome +   
short chain acyl-CoA dehydrogenase deficiency  
sitosterolemia +   
Sjogren-Larsson syndrome +   
Skin Fragility-Woolly Hair Syndrome  
Smith-Lemli-Opitz syndrome +   
steroid inherited metabolic disorder +   
stiff skin syndrome  
Storm Syndrome 
syndromic X-linked intellectual disability type 10  
trichothiodystrophy +   
Triglyceride Storage Disease, Type I 
Triglyceride Storage Disease, Type II 
very long chain acyl-CoA dehydrogenase deficiency  
Vohwinkel Syndrome, Variant Form  
X-linked ichthyosis +   
X-linked reticulate pigmentary disorder  
xanthomatosis +   
xeroderma pigmentosum +   

Exact Synonyms: Lipoid Proteinosis of Urbach and Wiethe ;   Lipoidproteinosis ;   Lipoproteinosis ;   Urbach Wiethe Disease ;   Urbach Wiethe Lipoid Proteinosis ;   Urbach-Wiethe syndrome ;   hyalinosis cutis et mucosae ;   lipid proteinosis
Primary IDs: MESH:D008065 ;   RDO:0006015
Alternate IDs: OMIM:247100
Xrefs: GARD:3268 ;   NCI:C84829
Definition Sources: MESH:D008065

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