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Term:
Parent Terms Term With Siblings Child Terms
genetic disease +     
skin disease +     
Achenbach syndrome 
Acneiform Eruptions +   
Adrenocortical Hypofunction, Chronic Primary Congenital 
adrenocorticotropic hormone deficiency  
Alagille syndrome  
alpha 1-antitrypsin deficiency +   
Alpha-2-Deficient Collagen Disease 
angioedema +   
AQUAPORIN 1 DEFICIENCY  
ataxia telangiectasia +   
ataxic cerebral palsy 
Atrial Standstill  
Atrial Standstill 2  
autoimmune lymphoproliferative syndrome +   
Borrone Di Rocco Crovato Syndrome  
Boudhina Yedes Khiari syndrome 
breast disease +   
Brugada syndrome +   
C syndrome  
CADASIL +   
CADASIL 2  
Camurati-Engelmann disease +   
Cardiomyopathy, Hypertrophic, Familial +   
cellulitis +   
CHARGE syndrome  
cherubism +   
chondrodysplasia punctata +   
chromosomal disease +   
ciliopathy +   
Cirrhosis, Familial  
Coffin-Siris syndrome +   
complement factor I deficiency  
congenital adrenal hyperplasia +   
congenital hemolytic anemia +   
Congenital Hepatic Fibrosis  
congenital hypoplastic anemia +   
congenital myasthenic syndrome +   
corticosteroid-binding globulin deficiency  
Costello syndrome  
Cryoglobulinemia, Familial Mixed  
Cutaneous Fistula 
cutaneous lupus erythematosus +   
cutis laxa +   
Dermal Fibrosis  
dermatitis +   
Dermatoleukodystrophy 
dermatomyositis +   
desquamative interstitial pneumonia  
Donohue syndrome +   
Duane-radial ray syndrome  
Dwarfism +   
dyskeratosis congenita +   
Ectodermal Dysplasia-Skin Fragility Syndrome  
Elastosis Perforans Serpiginosa 
Elliott Ludman Teebi Syndrome 
endometriosis in scar of skin 
epidermal nevus +   
epidermolytic hyperkeratosis +   
Epistaxis, Hereditary 
Erythema +   
erythematosquamous dermatosis 
exanthema +   
Eye Diseases, Hereditary +   
Eyebrows Duplication of, with Stretchable Skin and Syndactyly 
FACES Syndrome 
facial dermatosis +   
Facial Ectodermal Dysplasia  
familial dysalbuminemic hyperthyroxinemia +   
familial multiple lipomatosis 
Flynn Aird syndrome 
Focal Facial Dermal Dysplasia 4  
Foot Diseases +   
Frasier syndrome  
hair disease +   
Hajdu-Cheney syndrome +   
hand dermatosis +  
hemangioma of subcutaneous tissue 
hemoglobinopathy +   
hereditary angioedema +   
Hereditary Autoinflammatory Diseases +   
Hereditary Myopathy with Early Respiratory Failure  
Heredodegenerative Disorders, Nervous System +   
Hernandez Fragoso syndrome 
Histiocytosis, Familial Lipochrome 
Hyper-IgM Immunodeficiency Syndrome +   
ichthyosis +   
IMMUNODEFICIENCY 31B  
Immunodeficiency 38, with Basal Ganglia Calcification  
inherited blood coagulation disease +   
inherited metabolic disorder +   
JMP syndrome  
juvenile xanthogranuloma 
Kallmann syndrome +   
Kartagener syndrome +   
keratosis +   
Kimura disease 
Laminopathies  
leg dermatosis 
Lennox-Gastaut syndrome  
lipomatosis +   
localized scleroderma +   
Loeys-Dietz syndrome +   
loiasis 
Macroepiphyseal Dysplasia, McAlister Coe Type 
malignant hyperthermia +   
Marfan syndrome +   
Marfan syndrome, autosomal recessive  
MASS Syndrome  
mastocytosis +   
median cleft lip, corpus callosum, lipoma, and skin polyps 
Mental Retardation, Joint Hypermobility, and Skin Laxity, with or without Metabolic Abnormalities 
mongolian spot 
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY  
monogenic disease +   
Morgellons Disease 
multicentric reticulohistiocytosis 
muscular dystrophy +   
nail disease +   
necrobiosis lipoidica 
Necrobiotic Disorders +  
Necrolytic Migratory Erythema 
Neoplastic Syndromes, Hereditary +   
Nephrogenic Fibrosing Dermopathy  
Neutropenia, Nonimmune Chronic Idiopathic, Adult  
noninfectious dermatoses of eyelid +  
ocular albinism with sensorineural deafness  
oculocerebrorenal syndrome +   
orofaciodigital syndrome +   
osteochondrodysplasia +   
osteogenesis imperfecta +   
Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis  
otulipenia  
Pain Insensitivity, Congenital +   
panniculitis +   
Parotidomegaly, Hereditary Bilateral 
Peeling Skin Syndrome, Acral Type  
Pelger-Huet anomaly +   
photosensitivity disease +   
pigmentation disease +   
platelet-type bleeding disorder 10  
Polycystic Kidney Diseases +   
primary hypertrophic osteoarthropathy +   
Prolactin Deficiency, Isolated 
Prurigo  
Pruritus +   
Pseudoatrophoderma Colli 
pulmonary alveolar microlithiasis  
pycnodysostosis  
RASopathies  
reactive cutaneous fibrous lesion +  
Rh deficiency syndrome  
rosacea +   
Rothmund-Thomson syndrome +   
Roy Maroteaux Kremp Syndrome 
Sacral Agenesis with Vertebral Anomalies  
scalp dermatosis +   
scleredema adultorum 
sebaceous gland disease +   
Skin Abnormalities +   
skin atrophy 
Skin Diseases, Eczematous +   
Skin Diseases, Genetic +   
Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism.
Skin Diseases, Infectious +   
Skin Diseases, Metabolic +   
Skin Diseases, Papulosquamous +   
Skin Neoplasms +   
skin sarcoidosis 
skin ulcer +   
sweat gland disease +   
systemic scleroderma +   
Upton Young Syndrome 
urticaria +   
vascular skin disease +   
vesiculobullous skin disease +   
Weill-Marchesani Syndrome 3  
Werner syndrome +   
X-linked genetic disease +   
Y-linked disease +   
yellow nail syndrome +  
 Albinism +   
 cutis laxa +   
 monilethrix +   
 porokeratosis +   

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

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