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About:
clgo:
Genetic_disease_or_disorder
Property
Value
rdf:
type
owl:
Class
rdfs:
label
Genetic disease or disorder
rdfs:
subClassOf
Disease or disorder
prov:
wasDerivedFrom
http://en.wikipedia.org/wiki/Category:Genetic_diseases_and_disorders
http://en.wikipedia.org/wiki/Category:Genetic_disorders_by_inheritance
http://en.wikipedia.org/wiki/Category:Genetic_disorders_by_mechanism
http://en.wikipedia.org/wiki/Category:Genetic_disorders_by_system
is
rdf:
type
of
Acromesomelic dysplasia
Cataract-ataxia-deafness syndrome
Börjeson–Forssman–Lehmann syndrome
Hecht Scott syndrome
ATR-16 syndrome
Alternating hemiplegia of childhood
Congenital myopathy
Microcephaly lymphoedema chorioretinal dysplasia
ROSAH syndrome
Congenital generalized lipodystrophy
Bamforth–Lazarus syndrome
Growth delay-hydrocephaly-lung hypoplasia syndrome
Microcephalic primordial dwarfism, Montreal type
Small patella syndrome
Branchio-oculo-facial syndrome
LRBA deficiency
Camera-Marugo-Cohen syndrome
Keratosis pilaris
GOSR2-related progressive myoclonus ataxia
Cerebroretinal microangiopathy with calcifications and cysts
Immunodeficiency 26
Cardiospondylocarpofacial syndrome
Jones syndrome
Thai symphalangism syndrome
HIDEA syndrome
Arts syndrome
CHAI disease
PMM2 deficiency
Cole–Carpenter syndrome
Hirschsprung's disease-type D brachydactyly syndrome
Genetic disorder
Hyper IgM syndrome
Inborn errors of steroid metabolism
MEDNIK syndrome
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Camptodactyly, tall stature, and hearing loss syndrome
Say-Field-Coldwell syndrome
Warsaw breakage syndrome
Emanuel syndrome
Neuroacanthocytosis
Familial multiple intestinal atresia
Juvenile nephronophthisis
Opitz G/BBB syndrome
Tranebjaerg-Svejgaard syndrome
Common variable immunodeficiency
Du Pan syndrome
Spondylocostal dysostosis
RIDDLE syndrome
Variant of uncertain significance
Mendelian susceptibility to mycobacterial disease
Saito-Kuba-Tsuruta syndrome
Stimmler syndrome
Autosomal dominant cerebellar ataxia, deafness, and narcolepsy
Brachial amelia, cleft lip, and holoprosencephaly
Cerebral creatine deficiency
Trigonocephaly-bifid nose-acral anomalies syndrome
Dwarfism, low-birth-weight type with unresponsiveness to growth hormone
Pai syndrome
Vitiligo
3-Hydroxyisobutyryl-CoA deacylase deficiency
Alternating hemiplegia
Osteopetrosis
PASLI disease
Seaver Cassidy syndrome
Filippi syndrome
AFF2
Hypoplasminogenemia
Odontoma dysphagia syndrome
Barakat-Perenthaler syndrome
DeSanto-Shinawi syndrome
Mirror polydactyly-vertebral segmentation-limb defects syndrome
Primordial dwarfism
CHDI Foundation
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
ACDC (medicine)
Genetics of GnRH deficiency conditions
Claire Wineland
Familial dwarfism and painful muscle spasms
RAS-associated autoimmune leukoproliferative disorder
Muscular dystrophy
Boudhina-Yedes-Khiari syndrome
Spondylocamptodactyly
ATR-X syndrome
Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis
Myostatin-related muscle hypertrophy
Sotos syndrome
Isolated hyperCKemia
Oculoauricular syndrome
Infantile cortical hyperostosis
Liebenberg syndrome
Ciliopathy
Coeliac disease
Lamb-Shaffer syndrome
Glycogen storage disease type IX
Age of onset
Sclerosteosis
Tetrasomy X
Joubert syndrome
Hapnes Boman Skeie syndrome
Sorsby's fundus dystrophy
... and more
is
rdfs:
subClassOf
of
X-linked dominant disorder
Cardiogenetic disorder
Membrane transport protein disorder
Genetic syndrome
Disorder of synthesis of DNA, RNA, and proteins
Autosomal dominant disorder
Genetic disorder with OMIM but no gene
Signal transduction disorder
Autosomal recessive disorder
Genetic disorder with no OMIM
X-linked recessive disorder
Disorder of globin and globulin proteins
Neurogenetic disorder
Trinucleotide repeat disorder
Genetic disorder with known gene but no known gene function
Progeroid syndrome
Genetic animal disease
Inherited disorder of trafficking