DiseaseID 4122
回旋状萎缩
disease
NCI2016_02D:A rare autosomal recessive inherited disorder caused by mutations in the OAT gene. It is characterized by progressive atrophy of the retina and choroid, leading to loss of vision and blindness.|MSH2017_2016_0
Relationship Network
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Disease: 1Formula: 24Symptom: 1Target: 18Links: 49
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 4122
- Core Entity Id
- 60421
- Source Entity Count
- 1
- Preferred Name
- Gyrate Atrophy
- Name Cn
- 回旋状萎缩
- Name Pinyin
- Hui Xuan Zhuang Wei Suo
- Name En
- Gyrate Atrophy
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
- Do Class
- disease of anatomical entity
- Hpo Class
- Abnormality of metabolism/homeostasis
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
- Hpo Class Name
- Abnormality of metabolism/homeostasis
- Do Class Name
- disease of anatomical entity
- Disease Definition
- NCI2016_02D:A rare autosomal recessive inherited disorder caused by mutations in the OAT gene. It is characterized by progressive atrophy of the retina and choroid, leading to loss of vision and blindness.|MSH2017_2016_08_12:Progressive, autosomal recessive, diffuse atrophy of the choroid, pigment epithelium, and sensory retina that begins in childhood.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Gyrate Atrophy
Role
preferred
Name
Gyrate Atrophy Of Choroid And Retina
Role
preferred
Name
Hyperornithinemia
Role
preferred
Name
GACR
Role
alias
Name
HOGA
Role
alias
Name
HYPERORNITHINEMIA WITH GYRATE ATROPHY OF CHOROID AND RETINA
Role
alias
Name
High Blood Ornithine Levels
Role
alias
Name
OAT DEFICIENCY
Role
alias
Name
OKT DEFICIENCY
Role
alias
Name
ORNITHINE AMINOTRANSFERASE DEFICIENCY
Role
alias
Name
ORNITHINE KETO ACID AMINOTRANSFERASE DEFICIENCY
Role
alias
Name
ORNITHINE-DELTA-AMINOTRANSFERASE DEFICIENCY
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0012026
Herb
HBDIS001231HBDIS010454
Me Sh
D015799
Omim
258870
Umls
C0018425C0599035
Sym Map
SMDE03811
Do Class
DOID:7
Dis Ge Net
C0018425C0599035
Umls Sty
T047
Hpo Class
HP:0001939
Me Sh Class
C11C16
Etcm Disease
Gyrate Atrophy of Choroid and Retina
Tcmbank Disease
135663325
Itcmdb Generated
ITX-DISEASE-923B34E2167CITX-DISEASE-E8717FB4F945
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Page Title
Disease Gyrate Atrophy of Choroid and Retina Details page
Do Class Name
disease of anatomical entity
Disease Type
diseasephenotype
Hpo Class Name
Abnormality of metabolism/homeostasis
Do Disease Class
disease of anatomical entity
Hpo Disease Class
Abnormality of metabolism/homeostasis
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Gyrate Atrophy of Choroid and Retina
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Eye diseases;Neuronal diseases
Disease Definition
NCI2016_02D:A rare autosomal recessive inherited disorder caused by mutations in the OAT gene. It is characterized by progressive atrophy of the retina and choroid, leading to loss of vision and blindness.|MSH2017_2016_08_12:Progressive, autosomal recessive, diffuse atrophy of the choroid, pigment epithelium, and sensory retina that begins in childhood.
Me Sh Disease Class
Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Dis Ge Net Disease Type
diseasephenotype
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
Umls Semantic Type Name
Disease or Syndrome