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Term:
Hyaluronan Metabolism, Defect in (DOID:9006914)
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Parent Terms Term With Siblings Child Terms
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency  
3-Hydroxyacyl-CoA Dehydrogenase Deficiency  
3-methylglutaconic aciduria +   
5-Nucleotidase Syndrome 
6-Phosphogluconolactonase Deficiency 
Absence of Fingerprints  
Acetylcarnitine Deficiency 
Acholinesterasemia 
Acid Phosphatase Deficiency  
Actinic Prurigo  
Albinism +   
Alpha-Fetoprotein Deficiency  
amino acid metabolic disorder +   
Amino Acid Transport Disorders, Inborn +   
Amobarbital, Deficient N-Hydroxylation of 
Angiotensin I-Converting Enzyme, Benign Serum Increase  
Annular Erythema 
Arene Oxide Detoxification Defect 
aromatase excess syndrome  
arterial tortuosity syndrome  
Aryl Hydrocarbon Hydroxylase Inducibility 
atopic dermatitis +   
Atrophia Maculosa Varioliformis Cutis, Familial 
AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS  
autosomal recessive congenital ichthyosis +   
Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant 
bilirubin metabolic disorder +   
Bisphosphoglycerate Mutase Deficiency  
Bloch-Sulzberger syndrome +   
bullous congenital ichthyosiform erythroderma  
Buschke-Ollendorff Syndrome  
Butyrylcholinesterase Deficiency  
Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type  
carbohydrate metabolic disorder +   
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO  
Carnitine Acetyltransferase Deficiency 
CHITOTRIOSIDASE DEFICIENCY  
Chromate Resistance 
Collagenosis, Familial Reactive Perforating 
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA  
Combined Malonic and Methylmalonic Aciduria  
Combined Oxidative Phosphorylation Deficiency 11  
Combined Oxidative Phosphorylation Deficiency 12  
Combined Oxidative Phosphorylation Deficiency 13  
Combined Oxidative Phosphorylation Deficiency 14  
Combined Oxidative Phosphorylation Deficiency 15  
Combined Oxidative Phosphorylation Deficiency 16  
Combined Oxidative Phosphorylation Deficiency 17  
Combined Oxidative Phosphorylation Deficiency 18  
Combined Oxidative Phosphorylation Deficiency 19  
Combined Oxidative Phosphorylation Deficiency 20  
Combined Oxidative Phosphorylation Deficiency 21  
Combined Oxidative Phosphorylation Deficiency 22  
Combined Oxidative Phosphorylation Deficiency 23  
Combined Oxidative Phosphorylation Deficiency 24  
Combined Oxidative Phosphorylation Deficiency 33  
Combined Oxidative Phosphorylation Deficiency 8  
Combined Oxidative Phosphorylation Deficiency 9  
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
congenital secretory chloride diarrhea 1  
congenital secretory sodium diarrhea 3  
Copper Deficiency, Familial Benign 
Coumarin Resistance  
Coumarin Sensitivity  
Creatine Phosphokinase, Elevated Serum  
Cutaneous Bullous Amyloidosis 
cutaneous porphyria  
cutis laxa +   
cytochrome-c oxidase deficiency disease +   
Deafness Hyperuricemia Neurologic Ataxia 
Deoxyribose-5-Phosphate Aldolase Deficiency 
Dihydropyrimidinase Deficiency  
Diphenylhydantoin, Defect in Hydroxylation of 
dopamine beta-hydroxylase deficiency  
Dowling-Degos disease +   
dyschromatosis universalis hereditaria +   
dyskeratosis congenita +   
ectodermal dysplasia +   
Efavirenz, Poor Metabolism of  
Ehlers-Danlos syndrome +   
Enterokinase Deficiency  
epidermolysis bullosa +   
erythrokeratodermia variabilis +   
Erythrokeratodermia with Ataxia  
Ethanolaminosis 
Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like  
Familial Amyloidosis +   
Finnish Lethal Neonatal Metabolic Syndrome  
Follicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts 
FUCOSYLTRANSFERASE 6 DEFICIENCY  
Fumaric Aciduria  
Gerodermia Osteodysplastica  
Glucocorticoid Receptor Deficiency  
Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency 
Glutamate Formiminotransferase Deficiency  
glycerol kinase deficiency  
Glycoprotein Storage Disease 
Glyoxalase II Deficiency 
Growth Factors, Combined Defect of 
Hailey-Hailey disease  
Hepatic Porphyrias +   
Hereditary Autoinflammatory Diseases +   
Hereditary Hyperbilirubinemia +   
hereditary mucosal leukokeratosis  
Histiocytic Dermatoarthritis 
Hyaluronan Metabolism, Defect in 
Hypercalcemia, Infantile, 1  
Hypercatabolic Hypoproteinemia  
Hyperchlorhidrosis, Isolated  
Hypoadiponectinemia  
Hypokalemia, Familial 
ichthyosis vulgaris +   
Inosine Triphosphatase Deficiency  
Intrinsic Factor and R Binder, Combined Congenital Deficiency of 
Isolated Osteopoikilosis 
Juvenile Spring Eruption of Ears 
Kallikrein, Decreased Urinary Activity of  
Keratolytic Winter Erythema  
keratosis follicularis +   
Keratosis Follicularis Spinulosa Decalvans, X-Linked  
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma  
L-Gulonolactone Oxidase, Nonfunctional 
Lactate Dehydrogenase B Deficiency  
Lactic Aciduria due to D-Lactic Acid 
LEPTIN DEFICIENCY OR DYSFUNCTION  
Leptin Receptor Deficiency  
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
Leukotriene C4 Synthase Deficiency  
lipid metabolism disorder +   
lipoid proteinosis  
lysosomal storage disease +   
Malonic Aciduria  
Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type 
Mannose-Binding Protein Deficiency  
Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency 
Metabolic Brain Diseases, Inborn +   
metal metabolism disorder +   
Methemoglobin Reductase Deficiency 
methylmalonic aciduria and homocystinuria type cblG  
Methylmalonyl-Coenzyme A Mutase Deficiency 
mitochondrial complex II deficiency  
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, with Methylmalonic Aciduria, Autosomal Recessive +   
mitochondrial metabolism disease +   
MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY  
monilethrix +   
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY  
Muir-Torre syndrome  
Multiple Noduli Cutanei with Urinary Tract Abnormalities 
Myeloperoxidase Deficiency  
N Acetyltransferase Deficiency +   
Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency  
Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency  
Oculotrichodysplasia 
orofaciodigital syndrome IX  
palmoplantar keratosis +   
Pancreatic Insufficiency, Combined Exocrine 
Parana Hard Skin Syndrome 
Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair 
peeling skin syndrome +   
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial 
peroxisomal disease +   
Phenacetin O-Deethylase, Deficiency of  
Phenol Sulfotransferase Deficiency 
Phosphoglycerate Kinase 1 Deficiency  
Phosphohydroxylysinuria  
plasma protein metabolism disease +   
Plasminogen Deficiency, Type I  
Poikiloderma, Hereditary Sclerosing +   
Poor Drug Metabolism, CYP2C19-Related  
Poor Drug Metabolism, CYP2D6-Related  
porokeratosis +   
porphyria +   
primary cutaneous amyloidosis  
Primary Localized Cutaneous Amyloidosis, 2  
Primary Localized Cutaneous Amyloidosis, 3  
progeria +   
Progressive Osseous Heteroplasia  
Progressive Vitiligo with Mental Retardation and Urethral Duplication 
Proguanil, Poor Metabolism of  
Prolidase Deficiency  
pseudoxanthoma elasticum +   
purine-pyrimidine metabolic disorder +   
pyrimidine metabolic disorder +   
renal tubular transport disease +   
Reticulate Pigmentary Disorder, with Systemic Manifestations  
Retinol-Binding Protein Deficiency 
Rothmund-Thomson syndrome +   
SEDOHEPTULOKINASE DEFICIENCY  
sepiapterin reductase deficiency  
Sjogren-Larsson syndrome +   
Skin Fragility-Woolly Hair Syndrome  
steroid inherited metabolic disorder +   
Stiff Skin Syndrome  
Stomatocytosis I  
Stomatocytosis II  
Storm Syndrome 
Succinic Acidemia 
Systemic Hyalinosis  
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type)  
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)  
thiopurine S-methyltransferase deficiency +   
Thyrotropin-Releasing Hormone Deficiency  
Transcobalamin I Deficiency  
Trichothiodystrophy Syndromes +   
trimethylaminuria  
Trypsinogen Deficiency  
vitamin metabolic disorder +   
Vohwinkel Syndrome, Variant Form  
Warfarin Sensitivity  
Weinstein Kliman Scully Syndrome 
Wiedemann Oldigs Oppermann Syndrome 
X-linked ichthyosis +   
xeroderma pigmentosum +   

Synonyms
Primary IDs: MESH:C565742 ;   RDO:0014300

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