SHMARQL

congenital adrenal hyperplasia

<http://www.wikidata.org/entity/Q366868>

steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper- or hypo-androgeny manifestations resulting from steroidogenic enzyme deficiency
rdfs:label
"congenital adrenal hyperplasia"@en
skos:altLabel
"Adrenal Hyperplasia, Congenital"@en
"Adrenal gland hyperplasia"@en
"Adrenal hypertrophy or hyperplasia (disorder)"@en
"CAH"@en
"Congenial adrenal cortex enzyme deficiency"@en
"Congenital Adrenal hyperplasia"@en
"Congenital adrenal enzyme deficiency"@en
"Congenital adrenal hyperplasia"@en
"Congenital adrenal hyperplasia (disorder)"@en
"Congenital adrenal hyperplasia, NOS"@en
"adrenal hyperplasia"@en
"adrenal hyperplasia 1"@en
"obsolete congenital adrenal hyperplasia"@en
schema:description
"steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper- or hypo-androgeny manifestations resulting from steroidogenic enzyme deficiency"@en
schema:dateModified "2026-11-10T17:21:04+00:00"^^xsd:dateTime
schema:version 2567630786
wikibase:identifiers 54
59
wikibase:sitelinks 32
wikibase:statements 87
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wdt:P10192 "homoit0000301"
wdt:P10283 "C2777767042"
"C2911041269"
wdt:P11143 "Congenital adrenal hyperplasia"
wdt:P11250 "lgbta:Congenital_Adrenal_Hyperplasia"
wdt:P1193 0.00005^^xsd:decimal
wdt:P1199 autosomal recessive
wdt:P13204 "e8nrexcq"
wdt:P1325 <http://www.nanbyou.or.jp/entry/185>
wdt:P13438 "homoit0000301"
wdt:P13591 "concept/b6eda1bf-23d2-4279-bd52-62e6e77ee58b"
wdt:P1417 "science/congenital-adrenal-hyperplasia"
wdt:P14914 "D00418"
wdt:P1550 "418"
wdt:P1692 "255.2"
wdt:P1748 "C34360"
wdt:P1995 endocrinology
wdt:P2176 methylprednisolone
wdt:P2293 CYP21A2
CYP17A1
CYP11B1
POR
HSD3B2
STAR
wdt:P244 "sh85001014"
wdt:P2671 "/g/11gg9cfy4r"
wdt:P279 adrenogenital disease
steroid inherited metabolic disorder
adrenal hyperplasia
wdt:P2888 <http://identifiers.org/doid/DOID:0050811>
<http://purl.obolibrary.org/obo/DOID_0050811>
<http://www.orpha.net/ORDO/Orphanet_418>
wdt:P2892 "C0001627"
wdt:P31 type of disease
symptom or sign
intersex condition
designated intractable/rare disease
rare disease
wdt:P3471 "18092"
wdt:P373 "Congenital adrenal hyperplasia"
wdt:P3827 "congenital-adrenal-hyperplasia"
wdt:P3841 "HP:0008221"
wdt:P4229 "E25"
"E25.9"
wdt:P4233 "congenital-adrenal-familial-hyperplasia"
wdt:P4317 "1465"
"1467"
wdt:P4527 "488417"
wdt:P486 "D000312"
wdt:P492 "201710"
"201810"
"201910"
"202010"
"202110"
wdt:P5008 WikiProject Medicine
wdt:P5082 "adrenogenitalt_syndrom"
wdt:P557 "1832"
"1841"
"1854"
"2565"
"4"
wdt:P604 "000411"
wdt:P6417 "congenitalAdrenalHyperplasia"
wdt:P646 "/m/02jmhv"
wdt:P665 "H00216"
wdt:P667 "T99"
wdt:P672 "C12.050.351.875.253.090.500"
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"C16.320.033"
"C16.320.565.925.249"
"C18.452.648.925.249"
"C19.053.440"
"C19.391.119.090.500"
wdt:P673 "919218"
wdt:P691 "ph237409"
wdt:P699 "DOID:0050811"
wdt:P7329 "5A71.01"
wdt:P7807 "172733763"
wdt:P8189 "987007292944305171"
wdt:P8285 "andrenogenitalt-syndrom"
wdt:P8885 "선천 부신 과다형성"
wdt:P9322 "0207597-vrozena-adrenalni-hyperplazie"
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