About: Aromatase deficiency

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An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

medical condition

Attributes	Values
rdf:type	Item
owl:sameAs	Aromatase deficiency Aromatase deficiency
description	medical condition (en) медичний стан (uk) seltene angeborene Hormonstörung (de) аутосомно-рецессивное заболевание (ru)
Mondo ID	wds:Q4795506-FB406B5C-B6F2-465C-947F-59B0E09BDDE4
DiseasesDB	wds:q4795506-30390764-06B0-46BF-9BE6-80DE1EF932AD
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0013301
Mondo ID	MONDO_0013301
DiseasesDB	29906
rdfs:label	Aromatase deficiency (en) Aromatase-Mangel (de) déficit en aromatase (fr) Дефицит ароматазы (ru) نقص الأروماتاز (ar) アロマターゼ欠乏症 (ja)
skos:prefLabel	Aromatase deficiency (en) Aromatase-Mangel (de) déficit en aromatase (fr) Дефицит ароматазы (ru) نقص الأروماتاز (ar) アロマターゼ欠乏症 (ja)
name	Aromatase deficiency (en) Aromatase-Mangel (de) déficit en aromatase (fr) Дефицит ароматазы (ru) نقص الأروماتاز (ar) アロマターゼ欠乏症 (ja)
instance of	wds:Q4795506-31E7E029-F724-44CD-9DAD-C7CA59586E78 wds:Q4795506-BA01F5A8-97F9-4564-8423-A7D832D78A37
instance of	class of disease rare disease
subclass of	wds:Q4795506-f003572f-4dd2-cf0b-173c-3c1720d131e4
subclass of	congenital estrogen deficiency
KEGG ID	wds:Q4795506-FD900085-6965-40E2-87BE-F84C412582E8
KEGG ID	http://www.kegg.jp/entry/H02020
KEGG ID	H02020
UniProt disease ID	wds:Q4795506-430d5723-4926-0b7e-bff6-234f33363569
Orphanet ID	wds:Q4795506-3d18614f-4c72-e3a7-3d38-867360e52d28
genetic association	wds:Q4795506-105829CF-D89D-47A8-8A4B-D51CBA8A40BB
GARD rare disease ID	wds:Q4795506-2A310138-513E-4FDC-BEC4-B95922018589
OMIM ID	wds:Q4795506-2CAD03E7-068C-4311-AFC3-3803E000E7CD wds:q4795506-60FAEAC7-3408-4913-A361-EFA2A4B08754
Genetics Home Reference Conditions ID	wds:Q4795506-5C11D61E-50E3-4261-B889-F203C2ABAAE8
UniProt disease ID	DI-00134
Orphanet ID	91
genetic association	CYP19A1
GARD rare disease ID	365
OMIM ID	107910 613546
Genetics Home Reference Conditions ID	aromatase-deficiency
skos:altLabel	AROD (en) アロマターゼ欠損症 (ja)
MeSH descriptor ID	wds:Q4795506-d33d9a39-4fda-fb63-da4f-1037ab08f431
Microsoft Academic ID	wds:Q4795506-A1D7579A-E510-4D10-8C6F-33A26ABA8351
ICD-11 (foundation)	wds:Q4795506-56079046-4eaf-0502-b285-e06a44bb6aec
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C537436
Microsoft Academic ID	https://makg.org/entity/2781008218
MeSH descriptor ID	C537436
Microsoft Academic ID	2781008218
ICD-11 (foundation)	260189446
WikiProjectMed ID	wds:Q4795506-D8CAD550-5098-4659-ABDA-7A8C20BE4103
WikiProjectMed ID	Aromatase deficiency
is owl:sameAs of	Aromatase deficiency
is about of	Aromatase deficiency Aromatase deficiency https://www.wikidata.org/wiki/Special:EntityData/Q4795506 Aromatase deficiency https://de.wikipedia.org/wiki/Aromatase-Mangel https://ru.wikipedia.org/wiki/%D0%94%D0%B5%D1%84%D0%B8%D1%86%D0%B8%D1%82_%D0%B0%D1%80%D0%BE%D0%BC%D0%B0%D1%82%D0%B0%D0%B7%D1%8B https://ar.wikipedia.org/wiki/%D9%86%D9%82%D8%B5_%D8%A7%D9%84%D8%A3%D8%B1%D9%88%D9%85%D8%A7%D8%AA%D8%A7%D8%B2
is main subject of	RETRACTED: Neurological effects of aromatase deficiency in the mouse Sex- and age-related response to aromatase deficiency in bone Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries Clinical review 78: Aromatase deficiency in women and men: would you have predicted the phenotypes? Aromatase deficiency in a female who is compound heterozygote for two new point mutations in the P450arom gene: impact of estrogens on hypergonadotropic hypogonadism, multicystic ovaries, and bone densitometry in childhood. Of mice and men: the evolving phenotype of aromatase deficiency Oestradiol replacement treatment and glucose homeostasis in two men with congenital aromatase deficiency: evidence for a role of oestradiol and sex steroids imbalance on insulin sensitivity in men. Increased bone mass as a result of estrogen therapy in a man with aromatase deficiency Aromatase deficiency in a Chinese adult man caused by novel compound heterozygous CYP19A1 mutations: effects of estrogen replacement therapy on the bone, lipid, liver and glucose metabolism. A case of Aromatase deficiency due to a novel CYP19A1 mutation Aromatase deficiency, a rare syndrome: case report Aromatase deficiency owing to a functional variant in the placenta promoter and a novel missense mutation in the CYP19A1 gene Aromatase deficiency caused by a novel P450arom gene mutation: impact of absent estrogen production on serum gonadotropin concentration in a boy Estrogen replacement therapy in a man with congenital aromatase deficiency: effects of different doses of transdermal estradiol on bone mineral density and hormonal parameters Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency: diagnostic value of urine steroid hormone analysis. Effect of testosterone and estradiol in a man with aromatase deficiency Impact of estrogen replacement therapy in a male with congenital aromatase deficiency caused by a novel mutation in the CYP19 gene Aromatase deficiency and estrogen resistance: from molecular genetics to clinic. Hypothalamic-pituitary-gonadal axis in two men with aromatase deficiency: evidence that circulating estrogens are required at the hypothalamic level for the integrity of gonadotropin negative feedback. Aromatase deficiency confers paradoxical postischemic cardioprotection Role of oestrogen in male sexual behaviour: insights from the natural model of aromatase deficiency Bone has a sexually dimorphic response to aromatase deficiency Aromatase deficiency in men: a clinical perspective Aromatase deficiency inhibits the permeability transition in mouse liver mitochondria. Skeletal effects of long-term estrogen and testosterone replacement treatment in a man with congenital aromatase deficiency: evidences of a priming effect of estrogen for sex steroids action on bone Genetic studies to characterize the origin of the mutation in placental aromatase deficiency

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