DiseaseID 25833

细胞色素P450氧化还原酶缺乏所致类固醇生成障碍

Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency

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: 1Formula: 10Herb: 5Symptom: 1Target: 17Links: 40

Arranging relationship network...

Record Fields

Scalar fields from the final disease record.

Disease Id: 25833
Core Entity Id: 118401
Source Entity Count: 1
Preferred Name: Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Name Cn: 细胞色素P450氧化还原酶缺乏所致类固醇生成障碍
Name Pinyin: Xi Bao Se Su P450 Yang Hua Huan Yuan Mei Que Fa Suo Zhi Lei Gu Chun Sheng Cheng Zhang Ai
Name En: Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Name Latin
Bilingual Status: complete
Disease Type
Umls Disease Type
Disgenet Type
Mesh Class
Do Class
Hpo Class
Mesh Class Name
Hpo Class Name
Do Class Name
Disease Definition: SNOMEDCT_US_2016_09_01:A unique form of congenital adrenal hyperplasia characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations. Prenatal androgen excess is responsible for severe virilization of external genitalia in girls and undervirilization in boys manifesting as a micropenis to severe perineoscrotal hypospadias. Craniofacial malformations observed include large domed forehead, flat nose, midface hypoplasia with proptosis and dysplastic ears. The disease follows an autosomal recessive pattern of inheritance.|SNOMEDCT_US_2016_09_01:A unique form of congenital adrenal hyperplasia characterised by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations. Prenatal androgen excess is responsible for severe virilisation of external genitalia in girls and undervirilisation in boys manifesting as a micropenis to severe perineoscrotal hypospadias. Craniofacial malformations observed include large domed forehead, flat nose, midface hypoplasia with proptosis and dysplastic ears. The disease follows an autosomal recessive pattern of inheritance.|MSH2017_2016_08_12:Autosomally recessive Antley-Bixler Syndrome with ambiguous genitalia and disturbed steroidogenesis, and associated with mutations in the POR gene, encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE).
Version: v1,v2
Suppressed: No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name

Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency

Role

preferred

Cross References

Trusted external identifiers retained for this final record.

Umls

C1860042

Sym Map

SMDE00547

Etcm Disease

Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency

Itcmdb Generated

ITX-DISEASE-ED03702B3607

Attributes

Merged source attributes and domain-specific metadata.

Version

v1,v2

Suppress

Page Title

Disease Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency Details page

Basic Information

Disease Name

Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Endocrine diseases;Reproductive diseases

Disease Definition

SNOMEDCT_US_2016_09_01:A unique form of congenital adrenal hyperplasia characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations. Prenatal androgen excess is responsible for severe virilization of external genitalia in girls and undervirilization in boys manifesting as a micropenis to severe perineoscrotal hypospadias. Craniofacial malformations observed include large domed forehead, flat nose, midface hypoplasia with proptosis and dysplastic ears. The disease follows an autosomal recessive pattern of inheritance.|SNOMEDCT_US_2016_09_01:A unique form of congenital adrenal hyperplasia characterised by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations. Prenatal androgen excess is responsible for severe virilisation of external genitalia in girls and undervirilisation in boys manifesting as a micropenis to severe perineoscrotal hypospadias. Craniofacial malformations observed include large domed forehead, flat nose, midface hypoplasia with proptosis and dysplastic ears. The disease follows an autosomal recessive pattern of inheritance.|MSH2017_2016_08_12:Autosomally recessive Antley-Bixler Syndrome with ambiguous genitalia and disturbed steroidogenesis, and associated with mutations in the POR gene, encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE).