DiseaseID 26170
卵巢发育不全1型
Ovarian Dysgenesis 1
NCI2016_02D:Gonadal dysgenesis in an individual with 46,XX karyotype and female phenotype.|MSH2017_2016_08_12:The 46,XX gonadal dysgenesis may be sporadic or familial. Familial XX gonadal dysgenesis is transmitted as an
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Disease: 1Target: 8Links: 8
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26170
- Core Entity Id
- 118738
- Source Entity Count
- 1
- Preferred Name
- Ovarian Dysgenesis 1
- Name Cn
- 卵巢发育不全1型
- Name Pinyin
- Luan Chao Fa Yu Bu Quan 1 Xing
- Name En
- Ovarian Dysgenesis 1
- 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
- NCI2016_02D:Gonadal dysgenesis in an individual with 46,XX karyotype and female phenotype.|MSH2017_2016_08_12:The 46,XX gonadal dysgenesis may be sporadic or familial. Familial XX gonadal dysgenesis is transmitted as an autosomal recessive trait and its locus was mapped to chromosome 2. Mutation in the gene for the FSH receptor (RECEPTORS, FSH) was detected. Sporadic XX gonadal dysgenesis is heterogeneous and has been associated with trisomy-13 and trisomy-18. These phenotypic females are characterized by a normal stature, sexual infantilism, bilateral streak gonads, amenorrhea, elevated plasma LUTEINIZING HORMONE and FSH concentration.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Ovarian Dysgenesis 1
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Umls
C0949595
Sym Map
SMDE02269
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Disease Definition
NCI2016_02D:Gonadal dysgenesis in an individual with 46,XX karyotype and female phenotype.|MSH2017_2016_08_12:The 46,XX gonadal dysgenesis may be sporadic or familial. Familial XX gonadal dysgenesis is transmitted as an autosomal recessive trait and its locus was mapped to chromosome 2. Mutation in the gene for the FSH receptor (RECEPTORS, FSH) was detected. Sporadic XX gonadal dysgenesis is heterogeneous and has been associated with trisomy-13 and trisomy-18. These phenotypic females are characterized by a normal stature, sexual infantilism, bilateral streak gonads, amenorrhea, elevated plasma LUTEINIZING HORMONE and FSH concentration.