CaLiGraph
Formats
RDF
N-Triples
N3/Turtle
JSON
XML
CSV
OData
Atom
JSON
Microdata
JSON
HTML
Embedded
JSON
Turtle
Browse using
OpenLink Faceted Browser
OpenLink Structured Data Editor
LodLive Browser
LODmilla Browser
Sparql Endpoint
About:
clgr:
Lipoid_congenital_adrenal_hyperplasia
Property
Value
rdf:
type
owl:
NamedIndividual
Cholesterol and steroid metabolism disorder
Intersex variation
Rare disease
Adrenal gland disorder
Autosomal recessive disorder
Endocrine gonad disorder
Estrogen
rdfs:
label
Lipoid congenital adrenal hyperplasia
owl:
sameAs
dbr:
Lipoid_congenital_adrenal_hyperplasia
prov:
wasDerivedFrom
http://en.wikipedia.org/wiki/Inborn_errors_of_metabolism
http://en.wikipedia.org/wiki/Category:Intersex_variations
http://en.wikipedia.org/wiki/Category:Rare_diseases
http://en.wikipedia.org/wiki/List_of_diseases_(C)
http://en.wikipedia.org/wiki/List_of_diseases_(L)
http://en.wikipedia.org/wiki/Category:Cholesterol_and_steroid_metabolism_disorders
http://en.wikipedia.org/wiki/Androgen_insensitivity_syndrome
http://en.wikipedia.org/wiki/Category:Adrenal_gland_disorders
http://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia
http://en.wikipedia.org/wiki/Inborn_errors_of_steroid_metabolism
http://en.wikipedia.org/wiki/Disorders_of_sex_development
http://en.wikipedia.org/wiki/Category:Endocrine_gonad_disorders
http://en.wikipedia.org/wiki/Category:Autosomal_recessive_disorders
http://en.wikipedia.org/wiki/Category:Estrogens
http://en.wikipedia.org/wiki/List_of_estrogens
skos:
prefLabel
Lipoid congenital adrenal hyperplasia
skos:
altLabel
20,22-Desmolase (P450scc) deficiency
Congenital adrenal hyperplasia, lipoid
Lipoid CAH
lipoid CAH
lipoid congenital adrenal hyperplasia
cholesterol side-chain cleavage enzyme or steroidogenic acute regulatory protein deficiency
clgo:
diseasesDB
2565
clgo:
icd10
E25.0
clgo:
omim
201710
clgo:
orpha
90790