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Parent Terms Term With Siblings Child Terms
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  
achromatopsia 4  
Achromatopsia 5  
Acrootoocular Syndrome 
Actinic Prurigo  
Adams Nance Syndrome 
adenine phosphoribosyltransferase deficiency  
adenylosuccinase lyase 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 
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  
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 +   
cherubism +   
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 +   
Cysteine Peptiduria 
cystinuria +   
Defect in Hyaluronan Metabolism 
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 +   
epidermolytic hyperkeratosis +   
erythrokeratodermia variabilis +   
Erythrokeratodermia with Ataxia 
External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation 
exudative vitreoretinopathy +   
familial benign fleck retina  
Foveal Hypoplasia +   
Foveal Hypoplasia with Anterior Segment Anomalies 
fumarase deficiency  
GABA aminotransferase deficiency  
gamma-amino butyric acid metabolism disorder +   
gamma-glutamyl transpeptidase deficiency  
geroderma osteodysplasticum  
Glaucoma 1, Open Angle, P  
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine  
Glutamate Monosodium Sensitivity 
glutamate-cysteine ligase deficiency  
Glutamine Deficiency, Congenital  
Glutaric Aciduria +   
glutathione synthetase deficiency  
glycine encephalopathy +   
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 +   
hereditary retinal dystrophy +   
Hereditary Sclerosing Poikiloderma +   
Hernandez Fragoso Syndrome 
high hyperopia  
histidine metabolism disease +   
Histiocytic Dermatoarthritis 
homocystinuria +   
hyaline fibromatosis syndrome  
hyperhomocysteinemia +   
hyperlysinemia +   
hypermethioninemia +   
hyperprolinemia +   
Hypertaurinuric Cardiomyopathy 
Hypertryptophanemia +   
hypomelanosis of Ito  
hypopigmentation of eyelid 
ichthyosis vulgaris +   
Ichthyosis, Split Hairs, and Amino Aciduria 
Indolylacroyl Glycinuria with Mental Retardation 
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development  
Iris Pigment Epithelium Anomalies 
Isobutyryl-CoA Dehydrogenase Deficiency  
Isolated Osteopoikilosis 
isolated sulfite oxidase deficiency  
isovaleric acidemia  
Joubert syndrome 8  
Juvenile Spring Eruption of Ears 
Keratolytic Winter Erythema  
keratosis follicularis +   
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma  
Leber congenital amaurosis +   
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
Leukonychia Totalis +   
lipoid proteinosis  
Lysine Malabsorption Syndrome 
lysinuric protein intolerance  
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 +   
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  
nuclear type mitochondrial complex I deficiency 20  
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 
Perioral Pigmented Follicular Atrophoderma with Milia and Epidermoid Cysts 
Peripapillary Atrophy, Beta Type 
Persistent Hyperplastic Primary Vitreous, Autosomal Dominant 
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive  
phenylketonuria +   
pigmented paravenous chorioretinal atrophy  
plasminogen deficiency type I  
poikiloderma with neutropenia  
porokeratosis +   
primary congenital glaucoma +   
primary cutaneous amyloidosis +   
progressive osseous heteroplasia  
Progressive Vitiligo with Mental Retardation and Urethral Duplication 
prolidase deficiency  
propionic acidemia +   
pseudoxanthoma elasticum +   
Radial Drusen, Autosomal Dominant 
Raindrop Hypopigmentation 
renal hypomagnesemia 5 with ocular involvement  
Retinal Aplasia 
Retinal Dysplasia +   
Retinal Dystrophy, Early Onset Severe  
retinitis pigmentosa +   
Retinohepatoendocrinologic Syndrome 
Rhegmatogenous Retinal Detachment, Autosomal Dominant  
Richards-Rundle Syndrome 
Rothmund-Thomson syndrome +   
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  
systemic primary carnitine deficiency disease  
Tiglic Acidemia 
trichothiodystrophy +   
Tryptophanuria with Dwarfism 
tyrosinemia +   
urea cycle disorder +   
Valinemia +   
Vascular Hyalinosis 
Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2  
vitelliform macular dystrophy +   
vitiligo +   
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia  
Vohwinkel Syndrome, Variant Form  
Walker-Warburg syndrome +   
Weill-Marchesani syndrome +   
X-linked ichthyosis +   
X-Linked Macular Dystrophy +   
X-linked reticulate pigmentary disorder  
xeroderma pigmentosum +   
Yemenite Deaf-Blind Hypopigmentation Syndrome 

Primary IDs: MESH:D000417 ;   RDO:0000397
Xrefs: NCI:C84543
Definition Sources: MESH:D000417

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