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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
genetic disease +     
skin disease +     
Achenbach syndrome 
Acneiform Eruptions +   
adiaspiromycosis 
Adrenocortical Hypofunction, Chronic Primary Congenital 
adrenocorticotropic hormone deficiency  
advanced sleep phase syndrome 3  
age related macular degeneration 8  
allergic cutaneous vasculitis +   
Alpha-2-Deficient Collagen Disease 
ancylostomiasis +  
Aquaporin 1 Deficiency  
ataxic cerebral palsy 
atrial heart septal defect 3  
atrial heart septal defect 4  
autoimmune disease of skin and connective tissue +   
autoimmune lymphoproliferative syndrome +   
Birt-Hogg-Dube syndrome  
BOCKENHEIMER SYNDROME  
Boudhina Yedes Khiari syndrome 
brachydactyly type A1B 
brachydactyly type A1C  
brachydactyly type A1D  
brachydactyly type B1  
brachydactyly type B2  
brachydactyly type E1  
brachydactyly type E2  
breast disease +   
C syndrome  
CADASIL +   
CAKUT2  
cataract 25 
cataract 26 multiple types 
cataract 27  
cataract 28 
Cenani-Lenz syndactyly syndrome  
cercarial dermatitis 
chancroid +  
chromosomal disease +   
chronic ulcer of skin +   
coenurosis 
complex cortical dysplasia with other brain malformations 1  
complex cortical dysplasia with other brain malformations 2  
complex cortical dysplasia with other brain malformations 3  
complex cortical dysplasia with other brain malformations 4  
complex cortical dysplasia with other brain malformations 5  
complex cortical dysplasia with other brain malformations 6  
Congenital Hepatic Fibrosis  
Congenital Pain Insensitivity +   
contagious pustular dermatitis 
Cutaneous Fistula 
cutaneous lupus erythematosus +   
cutis laxa +   
Dermal Fibrosis  
dermatitis +   
Dermatoleukodystrophy 
dermatomyositis +   
desquamative interstitial pneumonia  
dipetalonemiasis 
Duplication of Eyebrows with Stretchable Skin and Syndactyly 
Dwarfism +   
Ectodermal Dysplasia-Skin Fragility Syndrome  
Eczematous Skin Diseases +   
Elastosis Perforans Serpiginosa 
Elliott Ludman Teebi Syndrome 
endometriosis in scar of skin 
epidermal nevus +   
Erythema +   
erythematosquamous dermatosis 
exanthem +   
eyelid disease +   
FACES Syndrome 
facial dermatosis +   
Familial Cirrhosis +   
Familial Dysalbuminemic Hyperthyroxinemia  
Familial Hemophagocytic Lymphohistiocytoses +   
familial hypertrophic cardiomyopathy +   
Familial Lipochrome Histiocytosis 
Familial Mixed Cryoglobulinemia  
Familial Temporal Epilepsy +   
filariasis +   
Flynn Aird Syndrome 
Foot Diseases +   
Frank-Ter Haar syndrome  
frontotemporal dementia and/or amyotrophic lateral sclerosis 3  
frontotemporal dementia and/or amyotrophic lateral sclerosis 4  
Genetic Skin Diseases +   
Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism.
granulomatosis with polyangiitis +   
hair disease +   
hand dermatosis +  
hemorrhoid +   
Hereditary Bilateral Parotidomegaly 
Hereditary Epistaxis 
Hereditary Eye Diseases +   
hereditary lymphedema +   
Hereditary Neoplastic Syndromes +   
Hernandez Fragoso Syndrome 
Infectious Skin Diseases +   
inherited metabolic disorder +   
Isolated Prolactin Deficiency 
juvenile xanthogranuloma 
Kallmann syndrome +   
keratosis +   
Kimura disease 
Laminopathies +   
leg dermatosis 
lipomatosis +   
localized scleroderma +   
loiasis 
Macroepiphyseal Dysplasia, McAlister Coe Type 
Marfan syndrome +   
MASS Syndrome  
mastocytosis +   
Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps 
Mental Retardation, Joint Hypermobility, and Skin Laxity, with or without Metabolic Abnormalities 
Metabolic Skin Diseases +   
mongolian spot 
monogenic disease +   
Morgellons Disease 
multicentric reticulohistiocytosis 
multiple cutaneous and mucosal venous malformations  
nail disease +   
necrobiosis lipoidica 
Necrobiotic Disorders +  
Necrolytic Migratory Erythema 
Nephrogenic Fibrosing Dermopathy  
Nervous System Heredodegenerative Disorders +   
Nonimmune Chronic Idiopathic Neutropenia, Adult  
noninfectious dermatoses of eyelid +  
Papulosquamous Skin Diseases +   
phaeohyphomycosis +  
photosensitivity disease +   
pigmentation disease +   
polygenic disease +   
primary hypertrophic osteoarthropathy +   
progressive familial intrahepatic cholestasis +   
Prurigo  
Pruritus +   
Pseudoatrophoderma Colli 
Pseudopyogenic Granuloma 
reactive cutaneous fibrous lesion +   
rosacea +   
Roy Maroteaux Kremp Syndrome 
Sacral Agenesis with Vertebral Anomalies  
scalp dermatosis +   
sebaceous gland disease +   
Skin Abnormalities +   
skin atrophy 
Skin Neoplasms +   
skin sarcoidosis 
sweat gland disease +   
tyrosinemia type II  
Upton Young Syndrome 
vascular skin disease +   
verruciform xanthoma of skin 
XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME  
yellow nail syndrome +  
 Actinic Prurigo  
 adermatoglyphia  
 Albinism +   
 Annular Erythema 
 arterial tortuosity syndrome  
 atopic dermatitis +   
 Atrophia Maculosa Varioliformis Cutis, Familial 
 Autoinflammation with Arthritis and Dyskeratosis  
 autosomal recessive congenital ichthyosis +   
 Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant 
 Bloch-Sulzberger syndrome +   
 bullous congenital ichthyosiform erythroderma  
 Buschke-Ollendorff syndrome  
 cherubism +   
 Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
 Cutaneous Bullous Amyloidosis 
 cutaneous porphyria  
 cutis laxa +   
 Defect in Hyaluronan Metabolism 
 Dowling-Degos disease +   
 dyschromatosis universalis hereditaria +   
 dyskeratosis congenita +   
 ectodermal dysplasia +   
 Ehlers-Danlos syndrome +   
 epidermolysis bullosa +   
 epidermolytic hyperkeratosis +   
 erythrokeratodermia variabilis +   
 Familial Reactive Perforating Collagenosis 
 geroderma osteodysplasticum  
 Hailey-Hailey disease  
 Hepatic Porphyrias +   
 Hereditary Autoinflammatory Diseases +   
 Hereditary Sclerosing Poikiloderma +   
 Histiocytic Dermatoarthritis 
 hyaline fibromatosis syndrome  
 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 
 lipoid proteinosis  
 monilethrix +   
 Muir-Torre syndrome  
 Multiple Noduli Cutanei with Urinary Tract Abnormalities 
 Oculotrichodysplasia 
 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 
 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 +   
 Rothmund-Thomson syndrome +   
 Sjogren-Larsson syndrome +   
 spinocerebellar ataxia type 34  
 stiff skin syndrome  
 Storm Syndrome 
 trichothiodystrophy +   
 Vohwinkel Syndrome, Variant Form  
 white sponge nevus +   
 X-linked ichthyosis +   
 X-linked reticulate pigmentary disorder  
 xeroderma pigmentosum +   

Synonyms
Exact Synonyms: Genetic Skin Disease
Primary IDs: MESH:D012873
Alternate IDs: RDO:0001013
Definition Sources: MESH:D012873

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