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Term:
Copper Deficiency, Familial Benign (DOID:9007698)
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Parent Terms Term With Siblings Child Terms
hair disease +     
visual epilepsy +     
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency  
3-Hydroxyacyl-CoA Dehydrogenase Deficiency  
3-methylglutaconic aciduria +   
5-Nucleotidase Syndrome 
6-Phosphogluconolactonase Deficiency 
Acetylcarnitine Deficiency 
Acholinesterasemia 
Acid Phosphatase Deficiency  
Adams Nance Syndrome 
Alcohol Withdrawal Seizures  
Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 
Alpha-Fetoprotein Deficiency  
amino acid metabolic disorder +   
Amino Acid Transport Disorders, Inborn +   
Amobarbital, Deficient N-Hydroxylation of 
Angiotensin I-Converting Enzyme, Benign Serum Increase  
Arene Oxide Detoxification Defect 
aromatase excess syndrome  
Arthrogryposis, Mental Retardation, and Seizures  
Aryl Hydrocarbon Hydroxylase Inducibility 
autosomal dominant non-syndromic intellectual disability 6  
Bamforth-Lazarus syndrome  
Baraitser Rodeck Garner syndrome 
bilirubin metabolic disorder +   
Bird Headed Dwarfism Montreal Type 
Bisphosphoglycerate Mutase Deficiency  
Bjornstad syndrome  
Brachycephaly, Trichomegaly, and Developmental Delay  
Butyrylcholinesterase Deficiency  
Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type  
carbohydrate metabolic disorder +   
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO  
Carnitine Acetyltransferase Deficiency 
Catatrichy 
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES  
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
childhood onset epileptic encephalopathy  
CHITOTRIOSIDASE DEFICIENCY  
Chromate Resistance 
chromosome 15q13.3 microdeletion syndrome  
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 secretory chloride diarrhea 1  
congenital secretory sodium diarrhea 3  
Congenital Woolly Hair +   
Copper Deficiency, Familial Benign 
Coumarin Resistance  
Coumarin Sensitivity  
Craniosynostosis 2  
Creatine Phosphokinase, Elevated Serum  
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly  
Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome  
cytochrome-c oxidase deficiency disease +   
Deafness Hyperuricemia Neurologic Ataxia 
Deoxyribose-5-Phosphate Aldolase Deficiency 
Dermoodontodysplasia 
developmental delay and seizures with or without movement abnormalities  
Dihydropyrimidinase Deficiency  
dilated cardiomyopathy with woolly hair and keratoderma +   
Diphenylhydantoin, Defect in Hydroxylation of 
dopamine beta-hydroxylase deficiency  
Dyskinesias, Seizures, and Intellectual Developmental Disorder  
Dysmyelination with Jaundice 
EAST syndrome  
Ectodermal Dysplasia 4, Hair/Nail Type  
Ectodermal Dysplasia 9, Hair/Nail Type  
Efavirenz, Poor Metabolism of  
Enterokinase Deficiency  
Ethanolaminosis 
Experimental Seizures  
Familial Amyloidosis +   
Familial Convulsive Disorder with Prenatal or Early Onset 
Familial Infantile Convulsions and Paroxysmal Choreoathetosis  
Finnish Lethal Neonatal Metabolic Syndrome  
FLOTCH Syndrome 
folliculitis +   
FUCOSYLTRANSFERASE 6 DEFICIENCY  
Fumaric Aciduria  
Garret Tripp Syndrome 
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 
Hairy Palms and Soles 
Hereditary Hyperbilirubinemia +   
Hirsutism +   
Hyaluronan Metabolism, Defect in 
Hyper-Beta-Alaninemia 
Hypercalcemia, Infantile, 1  
Hypercatabolic Hypoproteinemia  
Hyperchlorhidrosis, Isolated  
Hyperglycinemia, Lactic Acidosis, and Seizures  
Hyperleucine-Isoleucinemia 
hypermethioninemia due to adenosine kinase deficiency  
Hyperphosphatemia, Polyuria, and Seizures 
hypertrichosis +   
Hypoadiponectinemia  
Hypokalemia, Familial 
Hypomagnesemia, Seizures, and Mental Retardation  
Hypomagnesemia, Seizures, and Mental Retardation 2  
hypoparathyroidism-retardation-dysmorphism syndrome  
Hypotonia, Seizures, and Precocious Puberty 
hypotrichosis +   
Ichthyosis Hystrix, Curth Macklin Type  
Inosine Triphosphatase Deficiency  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES  
Intrinsic Factor and R Binder, Combined Congenital Deficiency of 
Kaler Garrity Stern Syndrome 
Kallikrein, Decreased Urinary Activity of  
Katsantoni Papadakou Lagoyanni Syndrome 
Kozlowski-Krajewska Syndrome 
L-Gulonolactone Oxidase, Nonfunctional 
Lactate Dehydrogenase B Deficiency  
Lactic Aciduria due to D-Lactic Acid 
LEPTIN DEFICIENCY OR DYSFUNCTION  
Leptin Receptor Deficiency  
Leukotriene C4 Synthase Deficiency  
lipid metabolism disorder +   
lysosomal storage disease +   
Malonic Aciduria  
Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type 
Mannose-Binding Protein Deficiency  
Martinez Monasterio Pinheiro Syndrome 
Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency 
Menkes disease +   
Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 
Metabolic Brain Diseases, Inborn +   
metal metabolism disorder +   
Methemoglobin Reductase Deficiency 
Methionine Malabsorption Syndrome 
methylmalonic aciduria and homocystinuria type cblG  
Methylmalonyl-Coenzyme A Mutase Deficiency 
Microcephaly Seizures Genital Hypoplasia 
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly Sparse Hair Mental Retardation Seizures 
microcephaly, seizures, and developmental delay  
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES  
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  
Muller Barth Menger Syndrome 
multiple congenital anomalies-hypotonia-seizures syndrome +   
Myeloperoxidase Deficiency  
N Acetyltransferase Deficiency +   
Naxos Disease  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE  
Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency  
Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency  
Occipital Cortical Malformations  
Oculotrichodysplasia 
Optic Atrophy 10 with or without Ataxia, Mental Retardation, and Seizures  
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 
Pancreatic Insufficiency, Combined Exocrine 
Partington syndrome  
Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair 
Perniola Krajewska Carnevale Syndrome 
peroxisomal disease +   
Phenacetin O-Deethylase, Deficiency of  
Phenol Sulfotransferase Deficiency 
PHGDH deficiency  
Phosphoglycerate Kinase 1 Deficiency  
Phosphohydroxylysinuria  
Photosensitive Trichothiodystrophy 1  
Pili Annulati 
Pili Multigemini 
Pili Torti +  
plasma protein metabolism disease +   
Poor Drug Metabolism, CYP2C19-Related  
Poor Drug Metabolism, CYP2D6-Related  
porphyria +   
Postnatal Progressive Microcephaly with Seizures and Brain Atrophy  
Primary Aldosteronism, Seizures, and Neurologic Abnormalities  
progeria +   
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy  
Proguanil, Poor Metabolism of  
PSAT deficiency  
Pseudofolliculitis Barbae  
Pseudomonilethrix 
purine-pyrimidine metabolic disorder +   
pyrimidine metabolic disorder +   
Qazi Markouizos syndrome 
renal tubular transport disease +   
Retinol-Binding Protein Deficiency 
Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal  
Rodrigues Blindness 
seborrheic infantile dermatitis 
SEDOHEPTULOKINASE DEFICIENCY  
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME  
sepiapterin reductase deficiency  
SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES  
Skin Fragility-Woolly Hair Syndrome  
Smith-Kingsmore Syndrome  
steroid inherited metabolic disorder +   
Stomatocytosis I  
Stomatocytosis II  
Succinic Acidemia 
superficial mycosis +  
syndromic X-linked intellectual disability 5  
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  
tinea capitis +  
Tranebjaerg Svejgaard syndrome 
Transcobalamin I Deficiency  
Tricho-Dento-Osseous Syndrome  
Tricho-Dento-Osseous Syndrome 1 
Trichodysplasia-Xeroderma 
Trichohepatoenteric Syndrome  
Trichohepatoenteric Syndrome 2  
TRICHOMEGALY  
trichorhinophalangeal syndrome type I  
trichorhinophalangeal syndrome type III  
Trichostasis Spinulosa 
trimethylaminuria  
Trypsinogen Deficiency  
Uncombable Hair Syndrome +   
vitamin metabolic disorder +   
Warfarin Sensitivity  
Weinstein Kliman Scully Syndrome 
White Forelock with Malformations 
White-Sutton syndrome  
Wiedemann Oldigs Oppermann Syndrome 
Woolly Hair, Autosomal Recessive +   
X-Linked Mental Retardation Gustavson Type 

Synonyms
Exact Synonyms: Familial benign hypocupremia
Primary IDs: MESH:C535468 ;   RDO:0000595

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