DiseaseID 3246
肾上腺性征综合征
disease
Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperan
Relationship Network
Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.
Click a node to open it in a new tab
Disease: 1Symptom: 12Target: 24Links: 36
Arranging relationship network...
Record Fields
Scalar fields from the final disease record.
- Disease Id
- 3246
- Core Entity Id
- 59428
- Source Entity Count
- 1
- Preferred Name
- Adrenogenital Syndrome
- Name Cn
- 肾上腺性征综合征
- Name Pinyin
- Shen Shang Xian Xing Zheng Zong He Zheng
- Name En
- Adrenogenital Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Congenital Abnormality
- Disgenet Type
- disease
- Mesh Class
- Endocrine System DiseasesFemale Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Male Urogenital Diseases; Endocrine System DiseasesMale Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
- Do Class
- genetic disease; disease of metabolism
- Hpo Class
- Abnormality of the endocrine system
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System DiseasesEndocrine System Diseases
- Hpo Class Name
- Abnormality of the endocrine system
- Do Class Name
- disease of metabolism; genetic disease
- Disease Definition
- Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperan
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Adrenogenital Syndrome
Role
preferred
Name
21-Hydroxylase Deficiency
Role
preferred
Name
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Role
preferred
Name
Congenital Adrenal Hyperplasia
Role
preferred
Name
Congenital Adrenal Hyperplasia Due To 21 Hydroxylase Deficiency
Role
preferred
Name
Hyperandrogenism, Nonclassic Type, Due To 21-Hydroxylase Deficiency
Role
preferred
Name
Lipoid Congenital Adrenal Hyperplasia
Role
preferred
Name
11-Beta-Hydroxylase Deficiency
Role
preferred
Name
17,20-Lyase Deficiency, Isolated
Role
preferred
Name
3 Beta-Hydroxysteroid Dehydrogenase Deficiency
Role
preferred
Name
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Role
preferred
Name
ADENOMA, CORTISOL-PRODUCING
Role
preferred
Name
Adrenal Hyperplasia, Congenital, Type 5
Role
preferred
Name
Adrenogenital Disorder
Role
preferred
Name
CARCINOMA, ADRENOCORTICAL, ANDROGEN-SECRETING
Role
preferred
Name
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Role
preferred
Name
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Role
preferred
Name
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Role
preferred
Name
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Role
preferred
Name
Late Onset Congenital Adrenal Hyperplasia
Role
preferred
Name
17-Alpha-Hydroxylase Deficiency
Role
alias
Name
3-Beta Hydroxysteroid Dehydrogenase Deficiency
Role
alias
Name
3-Beta-Hsd Deficiency
Role
alias
Name
3B-Hydroxysteroid Dehydrogenase Deficiency
Role
alias
Name
ADRENAL HYPERPLASIA I
Role
alias
Name
ADRENAL HYPERPLASIA III
Role
alias
Name
Adrenal Hyperplasia, Congenital
Role
alias
Name
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Role
alias
Name
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Role
alias
Name
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Role
alias
Name
Adrenogenital Disorder, Unspecified
Role
alias
Name
Adrenogenital Disorders
Role
alias
Name
CAH1
Role
alias
Name
CONGENITAL ADRENAL HYPERPLASIA 1
Role
alias
Name
CYP21 DEFICIENCY
Role
alias
Name
LCAH
Role
alias
Name
LIPOID HYPERPLASIA, CONGENITAL, OF ADRENAL CORTEX WITH MALE PSEUDOHERMAPHRODITISM
Role
alias
Name
Late-Onset Congenital Adrenal Hyperplasia
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0000840HP:0008258
Herb
HBDIS000073HBDIS006243HBDIS006246HBDIS007281HBDIS008003HBDIS008004HBDIS008005HBDIS010700HBDIS011864HBDIS017739HBDIS017740HBDIS020447HBDIS020778HBDIS021156HBDIS021993
Me Sh
D000312D047808
Omim
201710201810201910202010202110
Umls
C0001627C0268285C0268292C0268296C0302280C0342474C0852654C1859995C2936858
Icd10
E25E25.0E25.9E29.1
Med Dra
10000002
Sym Map
SMDE00900SMDE01057SMDE02125SMDE02266SMDE02846SMDE03006SMDE05035SMDE05242SMDE05565SMDE07430SMDE07431SMDE09588
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0001627C0268285C0268292C0302280C0342467C0342471C0342474C0701163C0852654C1859995C1859998C2936858C3151153C3277849C3669121
Orphanet
7529079190793907959079695699
Umls Sty
T019T033T047
Hpo Class
HP:0000818
Me Sh Class
C12C13C16C18C19
Etcm Disease
Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase DeficiencyLipoid Congenital Adrenal Hyperplasia
Tcmbank Disease
1524417363194432221725794263492970230418305530625323716206654742074617604
Itcmdb Generated
ITX-DISEASE-179EBD4A5347ITX-DISEASE-42002A1133E1ITX-DISEASE-508C4D31E3A8ITX-DISEASE-606DC0922B42ITX-DISEASE-7FAE261DA945
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Page Title
Disease Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency Details pageDisease Lipoid Congenital Adrenal Hyperplasia Details page
Do Class Name
disease of metabolism; genetic disease
Disease Type
disease
Hpo Class Name
Abnormality of the endocrine system
Do Disease Class
genetic disease; disease of metabolism
Hpo Disease Class
Abnormality of the endocrine system
Umls Disease Type
Congenital AbnormalityDisease or SyndromeFinding
Basic Information
Disease Name
Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Endocrine diseases;Nephrological diseases;Reproductive diseases
Disease Name
Lipoid Congenital Adrenal Hyperplasia
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Endocrine diseases;Reproductive diseases
Disease Definition
Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperanCongenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadoCongenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, seveMSH2017_2016_08_12:Abnormal SEX DIFFERENTIATION or congenital DISORDERS OF SEX DEVELOPMENT caused by abnormal levels of steroid hormones expressed by the GONADS or the ADRENAL GLANDS, such as in CONGENITAL ADRENAL HYPERPLASIA and ADRENAL CORTEX NEOPLASMS. Due to abnormal steroid biosynthesis, clinical features include VIRILISM in females; FEMINIZATION in males; or precocious sexual development in children.|HPO2016_07_04:Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects. [HPO:probinson]NCI2016_02D:A genetic disorder characterized by defects in the synthesis of cortisol and/or aldosterone, resulting in hyperplasia of the adrenal cortical cells.|MSH2017_2016_08_12:A group of inherited disorders of the ADRENAL GLANDS, caused by enzyme defects in the synthesis of cortisol (HYDROCORTISONE) and/or ALDOSTERONE leading to accumulation of precursors for ANDROGENS. Depending on the hormone imbalance, congenital adrenal hyperplasia can be classified as salt-wasting, hypertensive, virilizing, or feminizing. Defects in STEROID 21-HYDROXYLASE; STEROID 11-BETA-HYDROXYLASE; STEROID 17-ALPHA-HYDROXYLASE; 3-beta-hydroxysteroid dehydrogenase (3-HYDROXYSTEROID DEHYDROGENASES); TESTOSTERONE 5-ALPHA-REDUCTASE; or steroidogenic acute regulatory protein; among others, underlie these disorders.|HPO2016_07_04:A type of adrenal hyperplasia with congenital onset. [HPO:probinson]|CSP2006:group of syndromes caused by inherited defects in cortisol and/or aldosterone biosynthesis; ACTH elevation is caused by low levels of cortisol, whose production is impaired by absence or deficiency of one of the five enzymes necessary for its synthesis from cholesterol.NCI2016_02D:Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production.
Me Sh Disease Class
Endocrine System DiseasesFemale Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Male Urogenital Diseases; Endocrine System DiseasesMale Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System DiseasesEndocrine System Diseases
Umls Semantic Type Name
Congenital AbnormalityDisease or SyndromeFinding