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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 1  
advanced sleep phase syndrome 2  
advanced sleep phase syndrome 3  
age related macular degeneration 8  
Alagille syndrome  
allergic cutaneous vasculitis +   
Alpha-2-Deficient Collagen Disease 
Alzheimer's disease 18  
ancylostomiasis +  
angioedema +   
AQUAPORIN 1 DEFICIENCY  
ataxia telangiectasia +   
ataxic cerebral palsy 
atrial heart septal defect 3  
atrial heart septal defect 4  
autoimmune lymphoproliferative 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 +   
Brugada syndrome +   
CADASIL +   
CAKUT2  
cataract 1 multiple types  
cataract 10 multiple types  
cataract 11 multiple types +   
cataract 12 multiple types  
cataract 13 with adult i phenotype  
cataract 14 multiple types  
cataract 15 multiple types  
cataract 16 multiple types  
cataract 18  
cataract 19 multiple types  
cataract 2 multiple types  
cataract 20 multiple types  
cataract 21 multiple types  
cataract 23  
cataract 24 
cataract 25 
cataract 26 multiple types 
cataract 27  
cataract 28 
cataract 29 
cataract 3 multiple types  
cataract 30  
cataract 31 multiple types  
cataract 32 multiple types 
cataract 33  
cataract 34 multiple types  
cataract 36  
cataract 37 
cataract 38  
cataract 39 multiple types  
cataract 4 multiple types +   
cataract 41  
cataract 43  
cataract 44  
cataract 45  
cataract 46 juvenile-onset  
cataract 5 multiple types  
cataract 6 multiple types  
cataract 7  
cataract 8 multiple types 
cataract 9 multiple types  
Cenani-Lenz syndactyly syndrome  
cercarial dermatitis 
chancroid +  
CHARGE syndrome  
cherubism +   
chondrodysplasia punctata +   
chromosomal disease +   
chronic ulcer of skin +   
coenurosis 
COL4A1-related familial vascular leukoencephalopathy  
complement factor I deficiency  
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  
complex cortical dysplasia with other brain malformations 7  
congenital amegakaryocytic thrombocytopenia  
congenital diarrhea +   
congenital hemolytic anemia +   
Congenital Hepatic Fibrosis  
congenital hypoplastic anemia +   
congenital hypotrichosis with juvenile macular dystrophy  
congenital myasthenic syndrome +   
Congenital Pain Insensitivity +   
contagious pustular dermatitis 
corticosteroid-binding globulin deficiency  
Cryoglobulinemia, Familial Mixed  
Cutaneous Fistula 
cutaneous lupus erythematosus +   
cutis laxa +   
Dermal Fibrosis  
dermatitis +   
Dermatoleukodystrophy 
dermatomyositis +   
desquamative interstitial pneumonia  
dilated cardiomyopathy 1A  
dilated cardiomyopathy 1AA  
dilated cardiomyopathy 1B  
dilated cardiomyopathy 1BB  
dilated cardiomyopathy 1C  
dilated cardiomyopathy 1CC  
dilated cardiomyopathy 1D  
dilated cardiomyopathy 1DD  
dilated cardiomyopathy 1E  
dilated cardiomyopathy 1EE  
dilated cardiomyopathy 1FF  
dilated cardiomyopathy 1G  
dilated cardiomyopathy 1GG  
dilated cardiomyopathy 1H  
dilated cardiomyopathy 1HH  
dilated cardiomyopathy 1I  
dilated cardiomyopathy 1II  
dilated cardiomyopathy 1J  
dilated cardiomyopathy 1JJ  
dilated cardiomyopathy 1K 
dilated cardiomyopathy 1KK  
dilated cardiomyopathy 1L  
dilated cardiomyopathy 1M  
dilated cardiomyopathy 1NN  
dilated cardiomyopathy 1O  
dilated cardiomyopathy 1P  
dilated cardiomyopathy 1Q 
dilated cardiomyopathy 1R  
dilated cardiomyopathy 1S  
dilated cardiomyopathy 1T  
dilated cardiomyopathy 1U  
dilated cardiomyopathy 1V  
dilated cardiomyopathy 1W  
dilated cardiomyopathy 1X  
dilated cardiomyopathy 1Y  
dilated cardiomyopathy 1Z  
dilated cardiomyopathy 2A  
dilated cardiomyopathy 2B  
dipetalonemiasis 
Duane-radial ray syndrome  
Duplication of Eyebrows with Stretchable Skin and Syndactyly 
Dwarfism +   
dystonia 12  
dystonia 16  
dystonia 21 
dystonia 23  
dystonia 24  
dystonia 25  
dystonia 27  
dystonia 5  
dystonia 9  
Ectodermal Dysplasia-Skin Fragility Syndrome  
Eczematous Skin Diseases +   
Elastosis Perforans Serpiginosa 
Elliott Ludman Teebi Syndrome 
endometriosis in scar of skin 
epidermal nevus +   
epidermolytic hyperkeratosis +   
episodic kinesigenic dyskinesia 1  
episodic kinesigenic dyskinesia 2 
Erythema +   
erythematosquamous dermatosis 
exanthem +   
FACES Syndrome 
facial dermatosis +   
Facial Ectodermal Dysplasia  
Familial Cirrhosis +   
Familial Dysalbuminemic Hyperthyroxinemia  
Familial Hemophagocytic Lymphohistiocytoses +   
familial hypertrophic cardiomyopathy +   
familial nephrotic syndrome +   
Familial Temporal Epilepsy +   
fatal infantile hypertonic myofibrillar myopathy  
fibrodysplasia ossificans progressiva  
filariasis +   
Flynn Aird Syndrome 
Focal Facial Dermal Dysplasia 4  
focal segmental glomerulosclerosis 1  
focal segmental glomerulosclerosis 2  
focal segmental glomerulosclerosis 5  
focal segmental glomerulosclerosis 6  
focal segmental glomerulosclerosis 7  
focal segmental glomerulosclerosis 8  
focal segmental glomerulosclerosis 9  
Foot Diseases +   
FTDALS3  
FTDALS4  
Fuhrmann syndrome  
Genetic Skin Diseases +   
Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism.
Greig cephalopolysyndactyly syndrome  
hair disease +   
hand dermatosis +  
hemoglobinopathy +   
hemorrhoid +   
hereditary angioedema +   
Hereditary Autoinflammatory Diseases +   
Hereditary Epistaxis 
Hereditary Eye Diseases +   
hereditary lymphedema +   
Hereditary Myopathy with Early Respiratory Failure  
Hereditary Neoplastic Syndromes +   
hereditary neutrophilia  
Hernandez Fragoso Syndrome 
Histiocytosis, Familial Lipochrome 
hyperimmunoglobulin syndrome +   
hypogonadotropic hypogonadism 10 with or without anosmia  
hypogonadotropic hypogonadism 11 with or without anosmia  
hypogonadotropic hypogonadism 12 with or without anosmia  
hypogonadotropic hypogonadism 13 with or without anosmia  
hypogonadotropic hypogonadism 14 with or without anosmia  
hypogonadotropic hypogonadism 15 with or without anosmia  
hypogonadotropic hypogonadism 16 with or without anosmia  
hypogonadotropic hypogonadism 17 with or without anosmia  
hypogonadotropic hypogonadism 18 with or without anosmia  
hypogonadotropic hypogonadism 19 with or without anosmia  
hypogonadotropic hypogonadism 20 with or without anosmia  
hypogonadotropic hypogonadism 21 with or without anosmia  
hypogonadotropic hypogonadism 22 with or without anosmia  
hypogonadotropic hypogonadism 23 with or without anosmia  
hypogonadotropic hypogonadism 24 without anosmia  
hypogonadotropic hypogonadism 3 with or without anosmia  
hypogonadotropic hypogonadism 4 with or without anosmia  
hypogonadotropic hypogonadism 5 with or without anosmia +   
hypogonadotropic hypogonadism 6 with or without anosmia  
hypogonadotropic hypogonadism 7 with or without anosmia  
hypogonadotropic hypogonadism 8 with or without anosmia  
hypogonadotropic hypogonadism 9 with or without anosmia  
hypotrichosis 1  
hypotrichosis 10 
hypotrichosis 11  
hypotrichosis 12  
hypotrichosis 13  
hypotrichosis 2  
hypotrichosis 3  
hypotrichosis 4  
hypotrichosis 5 
hypotrichosis 6  
hypotrichosis 7  
hypotrichosis 8  
hypotrichosis 9 
ichthyosis +   
IMMUNODEFICIENCY 31B  
Immunodeficiency 38, with Basal Ganglia Calcification  
infantile histiocytoid cardiomyopathy  
Infectious Skin Diseases +   
inflammatory bowel disease 1  
inflammatory bowel disease 10  
inflammatory bowel disease 11 
inflammatory bowel disease 12  
inflammatory bowel disease 13  
inflammatory bowel disease 14  
inflammatory bowel disease 15 
inflammatory bowel disease 16  
inflammatory bowel disease 17  
inflammatory bowel disease 18 
inflammatory bowel disease 19  
inflammatory bowel disease 2 
inflammatory bowel disease 20 
inflammatory bowel disease 21 
inflammatory bowel disease 22 
inflammatory bowel disease 23 
inflammatory bowel disease 24 
inflammatory bowel disease 25  
inflammatory bowel disease 26 
inflammatory bowel disease 27 
inflammatory bowel disease 28  
inflammatory bowel disease 3 
inflammatory bowel disease 4 
inflammatory bowel disease 5  
inflammatory bowel disease 6 
inflammatory bowel disease 7 
inflammatory bowel disease 8 
inflammatory bowel disease 9 
inherited blood coagulation disease +   
inherited metabolic disorder +   
intrahepatic cholestasis of pregnancy 1  
intrahepatic cholestasis of pregnancy 3  
Isolated Prolactin Deficiency 
juvenile xanthogranuloma 
Kallmann syndrome +   
Kartagener syndrome  
karyomegalic interstitial nephritis  
keratosis +   
Kimura disease 
Laminopathies  
leg dermatosis 
Lennox-Gastaut syndrome  
lipomatosis +   
localized scleroderma +   
loiasis 
long QT syndrome 1  
long QT syndrome 10  
long QT syndrome 11  
long QT syndrome 12  
long QT syndrome 13  
long QT syndrome 14  
long QT syndrome 15  
long QT syndrome 2  
long QT syndrome 3  
long QT syndrome 5  
long QT syndrome 6  
long QT syndrome 9  
Macroepiphyseal Dysplasia, McAlister Coe Type 
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 
Metabolic Skin Diseases +   
mongolian spot 
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY  
monogenic disease +   
Morgellons Disease 
multicentric reticulohistiocytosis 
multiple cutaneous and mucosal venous malformations  
muscular dystrophy +   
myoclonic dystonia 11  
myoclonic dystonia 26  
myofibrillar myopathy 2  
myofibrillar myopathy 3  
myofibrillar myopathy 4  
myofibrillar myopathy 5  
myofibrillar myopathy 6  
myofibrillar myopathy 7  
myofibrillar myopathy 8  
nail disease +   
necrobiosis lipoidica 
Necrobiotic Disorders +  
Necrolytic Migratory Erythema 
nemaline myopathy 1  
nemaline myopathy 10  
nemaline myopathy 11  
nemaline myopathy 2  
nemaline myopathy 3  
nemaline myopathy 4  
nemaline myopathy 5  
nemaline myopathy 6  
nemaline myopathy 7  
nemaline myopathy 8  
nemaline myopathy 9  
Nephrogenic Fibrosing Dermopathy  
Nervous System Heredodegenerative Disorders +   
neurodegeneration with brain iron accumulation 2A  
neurodegeneration with brain iron accumulation 2B  
neurodegeneration with brain iron accumulation 3  
neurodegeneration with brain iron accumulation 4  
neurodegeneration with brain iron accumulation 6  
neurodevelopmental disorder with midbrain and hindbrain malformations  
neurogenic arthrogryposis multiplex congenita +   
Neutropenia, Nonimmune Chronic Idiopathic, Adult  
noninfectious dermatoses of eyelid +  
Opitz Trigonocephaly Syndrome  
orofaciodigital syndrome +   
osteochondrodysplasia +   
osteogenesis imperfecta +   
otulipenia  
Papulosquamous Skin Diseases +   
Parotidomegaly, Hereditary Bilateral 
paroxysmal nonkinesigenic dyskinesia 1  
paroxysmal nonkinesigenic dyskinesia 2 
Pfeiffer syndrome  
phaeohyphomycosis +  
photosensitivity disease +   
pigmentation disease +   
platelet-type bleeding disorder 10  
polycystic kidney disease +   
postural orthostatic tachycardia syndrome  
primary autosomal recessive microcephaly +   
primary hypertrophic osteoarthropathy +   
progressive familial heart block type IA  
progressive familial heart block type IB  
progressive familial heart block type II 
progressive familial intrahepatic cholestasis +   
Prurigo  
Pruritus +   
Pseudoatrophoderma Colli 
pulmonary alveolar microlithiasis  
RASopathies  
reactive cutaneous fibrous lesion +  
Rh deficiency syndrome  
rosacea +   
Roy Maroteaux Kremp Syndrome 
Sacral Agenesis with Vertebral Anomalies  
Saethre-Chotzen syndrome  
scalp dermatosis +   
schizophrenia 1 
schizophrenia 10 
schizophrenia 11 
schizophrenia 12 
schizophrenia 13 
schizophrenia 14 
schizophrenia 15  
schizophrenia 16 
schizophrenia 18  
schizophrenia 2 
schizophrenia 3 
schizophrenia 4  
schizophrenia 5 
schizophrenia 6  
schizophrenia 7 
schizophrenia 8 
schizophrenia 9  
sebaceous gland disease +   
Skin Abnormalities +   
skin atrophy 
Skin Neoplasms +   
skin sarcoidosis 
Sorsby's fundus dystrophy  
SOST-related sclerosing bone dysplasia  
spermatogenic failure 10  
spermatogenic failure 11  
spermatogenic failure 12  
spermatogenic failure 13  
spermatogenic failure 14  
spermatogenic failure 15  
spermatogenic failure 16  
spermatogenic failure 17  
spermatogenic failure 18  
spermatogenic failure 19  
spermatogenic failure 20  
spermatogenic failure 21  
spermatogenic failure 22  
spermatogenic failure 23  
spermatogenic failure 3  
spermatogenic failure 4  
spermatogenic failure 5  
spermatogenic failure 6  
spermatogenic failure 7  
spermatogenic failure 8  
spermatogenic failure 9  
split hand-foot malformation 1  
split hand-foot malformation 1 with sensorineural hearing loss  
split hand-foot malformation 4  
split hand-foot malformation 6  
spondylocarpotarsal synostosis syndrome  
strongyloidiasis  
subacute sclerosing panencephalitis +   
sweat gland disease +   
systemic scleroderma +   
Ter Haar Syndrome  
torsion dystonia 13 
torsion dystonia 17 
torsion dystonia 7  
tyrosinemia type II  
Upton Young Syndrome 
urticaria +   
vascular skin disease +   
verruciform xanthoma of skin 
vesiculobullous skin disease +   
Wegener's granulomatosis +   
yellow nail syndrome +  
 Albinism +   
 cutis laxa +   
 monilethrix +   
 porokeratosis +   

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

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