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2-Aminoadipic 2-Oxoadipic Aciduria  
2-hydroxyglutaric aciduria +   
2-Methylacetoacetyl CoA Thiolase Deficiency 
2-Methylbutyryl-CoA Dehydrogenase Deficiency  
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency  
3-Hydroxyisobutyric Aciduria 
5-Oxoprolinase Deficiency  
Absence of Fingerprints  
achromatopsia 4  
Achromatopsia 5  
Acrootoocular Syndrome 
Actinic Prurigo  
Adams Nance Syndrome 
adenine phosphoribosyltransferase deficiency  
adenylosuccinase lyase deficiency  
AGAT deficiency  
Aicardi syndrome 
Alacrima +   
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
Albinism +   
General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair.
alkaptonuria +   
Alpha-Ketoglutarate Dehydrogenase Deficiency  
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 
Aminoacylase 1 Deficiency  
aniridia +   
Annular Erythema 
Arakawa Syndrome 2  
argininosuccinic aciduria  
aromatic L-amino acid decarboxylase deficiency  
arterial tortuosity syndrome  
Asparagine Synthetase Deficiency  
ataxia with oculomotor apraxia type 3  
Ataxia-Microcephaly-Cataract Syndrome 
Ataxia-Oculomotor Apraxia 4  
atopic dermatitis +   
Atrophia Maculosa Varioliformis Cutis, Familial 
AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS  
autosomal recessive congenital ichthyosis +   
basal laminar drusen  
Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant 
bestrophinopathy  
Beta-Aminoisobutyric Acid, Urinary Excretion of  
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency  
beta-ketothiolase deficiency  
BH4-deficient hyperphenylalaninemia A  
Bloch-Sulzberger syndrome +   
Blue Diaper Syndrome 
Bothnia retinal dystrophy  
bradyopsia  
branched-chain keto acid dehydrogenase kinase deficiency  
Brunner syndrome  
bullous congenital ichthyosiform erythroderma  
Buschke-Ollendorff Syndrome  
Camptodactyly Taurinuria 
Carboxypeptidase N Deficiency  
cataract 17 multiple types  
cataract 22 multiple types  
cataract 35 
Cataract, Floriform 
Cataract, Pulverulent 
Cavitary Optic Disc Anomalies  
cerebral creatine deficiency syndrome +   
Cholestasis with Gallstone, Ataxia, and Visual Disturbance 
Choroideremia +   
Cole Disease  
Collagenosis, Familial Reactive Perforating 
cone-rod dystrophy +   
Congenital Alacrima +   
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
Congenital Fibrosis of Extraocular Muscles, 2  
Congenital Fibrosis of Extraocular Muscles, 3A, with or without Extraocular Involvement  
Congenital Fibrosis of Extraocular Muscles, 3B  
Congenital Fibrosis of Extraocular Muscles, 3C 
Congenital Fibrosis of Extraocular Muscles, 5  
Congenital Mydriasis +   
Cornea Plana 1 
Cornea Plana 2  
corneal dystrophy +   
Cutaneous Bullous Amyloidosis 
cutaneous porphyria  
cutis laxa +   
cystathioninuria  
Cysteine Peptiduria 
cystinuria +   
Diaminopentanuria 
Dibasic Amino Aciduria I 
dicarboxylic aminoaciduria  
Dimethylglycine Dehydrogenase Deficiency  
Dowling-Degos disease +   
Duane retraction syndrome +   
dyschromatosis universalis hereditaria +   
dyskeratosis congenita +   
ectodermal dysplasia +   
Ehlers-Danlos syndrome +   
enhanced S-cone syndrome  
epidermolysis bullosa +   
erythrokeratodermia variabilis +   
Erythrokeratodermia with Ataxia  
Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like  
External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation 
Fleck Retina, Familial Benign  
Follicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts 
Foveal Hypoplasia with Anterior Segment Anomalies  
GABA aminotransferase deficiency  
gamma-amino butyric acid metabolism disorder +   
Gerodermia Osteodysplastica  
Glaucoma 1, Open Angle, P  
Glucoglycinuria 
Glutamate Monosodium Sensitivity 
Glutamine Deficiency, Congenital  
Glutaric Aciduria +   
Glutathione Synthetase Deficiency  
Glutathionuria  
glycine encephalopathy +   
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE  
Glycinuria with or without Oxalate Urolithiasis  
Graves Ophthalmopathy  
Grouped Pigmentation of the Macula 
gyrate atrophy +   
Hailey-Hailey disease  
Hartnup disease  
Hepatic Porphyrias +   
Hereditary Autoinflammatory Diseases +   
hereditary mucosal leukokeratosis  
hereditary night blindness +   
Hereditary Optic Atrophies +   
Hernandez Fragoso Syndrome 
high hyperopia  
histidine metabolism disease +   
histidinemia  
Histiocytic Dermatoarthritis 
homocystinuria +   
Hyaluronan Metabolism, Defect in 
Hydroxykynureninuria  
Hydroxyprolinemia 
hyperhomocysteinemia +   
Hyperleucine-Isoleucinemia 
hyperlysinemia +   
hypermethioninemia +   
Hyperprolinemias +   
Hypertaurinuric Cardiomyopathy 
Hypertryptophanemia 
Hypertryptophanemia, Familial  
hypomelanosis of Ito  
ichthyosis vulgaris +   
Ichthyosis, Split Hairs, and Amino Aciduria 
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA  
Indolylacroyl Glycinuria with Mental Retardation 
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development  
Iris Pigment Epithelium Anomalies 
Isobutyryl-CoA Dehydrogenase Deficiency  
Isolated Foveal Hypoplasia 
Isolated Osteopoikilosis 
isovaleric acidemia  
Joubert syndrome 8  
Juvenile Spring Eruption of Ears 
Keratolytic Winter Erythema  
keratosis follicularis +   
Keratosis Follicularis Spinulosa Decalvans, X-Linked  
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma  
Ketoadipicaciduria 
Leber congenital amaurosis +   
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
Leukonychia Totalis +   
lipoid proteinosis  
Lysine Malabsorption Syndrome 
lysinuric protein intolerance  
Macular Dystrophy, X-Linked +   
MALEYLACETOACETATE ISOMERASE DEFICIENCY  
maple syrup urine disease +   
megalocornea +   
Mercaptolactate-Cysteine Disulfiduria 
Methionine Malabsorption Syndrome 
Methylmalonate Semialdehyde Dehydrogenase Deficiency  
methylmalonic acidemia +   
Methylmalonyl-CoA Epimerase Deficiency +   
microcephaly and chorioretinopathy 1 +   
Mitochondrial Complex I Deficiency, Nuclear Type 20  
mitochondrial DNA depletion syndrome 5  
monilethrix +   
Muir-Torre syndrome  
multiple acyl-CoA dehydrogenase deficiency +   
multiple carboxylase deficiency +   
Multiple Noduli Cutanei with Urinary Tract Abnormalities 
Myopathy due to Malate-Aspartate Shuttle Defect 
N-Acetylaspartate Deficiency  
Oculotrichodysplasia 
Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects 
Ophthalmomandibulomelic Dysplasia 
organic acidemia +   
ornithine translocase deficiency  
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 
Peripapillary Atrophy, Beta Type 
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive  
phenylketonuria +   
Pigmented Paravenous Chorioretinal Atrophy  
Plasminogen Deficiency, Type I  
Poikiloderma, Hereditary Sclerosing +   
PORETTI-BOLTSHAUSER SYNDROME  
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  
propionic acidemia +   
pseudopapilledema 
pseudoxanthoma elasticum +   
Radial Drusen, Autosomal Dominant 
Raindrop Hypopigmentation 
renal hypomagnesemia 5 with ocular involvement  
Reticulate Pigmentary Disorder, with Systemic Manifestations  
Retinal Aplasia 
Retinal Dysplasia +   
Retinal Dystrophy, Early Onset Severe  
retinitis pigmentosa +   
Retinohepatoendocrinologic Syndrome 
Rhegmatogenous Retinal Detachment, Autosomal Dominant  
Richards-Rundle Syndrome 
Rothmund-Thomson syndrome +   
Sarcosinemia  
serine deficiency +   
Sjogren-Larsson syndrome +   
Skin Fragility-Woolly Hair Syndrome  
Spondyloocular Syndrome, Autosomal Recessive  
Stickler Syndrome, Type I, Nonsyndromic Ocular  
Stiff Skin Syndrome  
Storm Syndrome 
succinic semialdehyde dehydrogenase deficiency  
Sulfite Oxidase Deficiency  
Systemic Hyalinosis  
systemic primary carnitine deficiency disease  
Tiglic Acidemia 
Trichothiodystrophy Syndromes +   
Tryptophanuria with Dwarfism 
tyrosinemia +   
Tyrosinosis 
urea cycle disorder +   
Urocanase Deficiency  
Valinemia 
Vascular Hyalinosis 
Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2  
vitelliform macular dystrophy +   
vitiligo +   
Vitreoretinochoroidopathy  
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia  
Vohwinkel Syndrome, Variant Form  
Walker-Warburg syndrome +   
Weill-Marchesani syndrome +   
X-linked ichthyosis +   
xeroderma pigmentosum +   
Yemenite Deaf-Blind Hypopigmentation Syndrome 

Synonyms
Primary IDs: MESH:D000417 ;   RDO:0000397
Definition Sources: MESH:D000417

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