DiseaseID 7626
琥珀酸半醛脱氢酶缺乏症
disease
NCI2016_02D:A rare X-linked inherited disorder. It is caused by mutations in the SLC6A8 gene resulting in the absence of a compound needed to transport creatine into cells. It manifests with intellectual disability, seiz
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: 1Experiment: 3Herb: 12Symptom: 12Target: 19Links: 51
Arranging relationship network...
Record Fields
Scalar fields from the final disease record.
- Disease Id
- 7626
- Core Entity Id
- 64453
- Source Entity Count
- 1
- Preferred Name
- Succinic Semialdehyde Dehydrogenase Deficiency
- Name Cn
- 琥珀酸半醛脱氢酶缺乏症
- Name Pinyin
- Hu Po Suan Ban Quan Tuo Qing Mei Que Fa Zheng
- Name En
- Succinic Semialdehyde Dehydrogenase Deficiency
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Mental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
- Do Class
- genetic disease; disease of metabolism
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders
- Hpo Class Name
- Do Class Name
- disease of metabolism; genetic disease
- Disease Definition
- NCI2016_02D:A rare X-linked inherited disorder. It is caused by mutations in the SLC6A8 gene resulting in the absence of a compound needed to transport creatine into cells. It manifests with intellectual disability, seizures, short stature, and midface hypoplasia.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Succinic Semialdehyde Dehydrogenase Deficiency
Role
preferred
Name
Cerebral Creatine Deficiency Syndrome 1
Role
preferred
Name
Prolidase Deficiency
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS006388
Omim
271980
Umls
C0268532C0268631C1534653C1845862
Icd10
E72.8
Sym Map
SMDE00686SMDE04187SMDE04796
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0268631
Orphanet
2252503742
Umls Sty
T047
Me Sh Class
C16C18F03
Etcm Disease
Cerebral Creatine Deficiency Syndrome 1
Tcmbank Disease
24042
Itcmdb Generated
ITX-DISEASE-26B5693CEC0B
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2
Suppress
0
Page Title
Disease Cerebral Creatine Deficiency Syndrome 1 Details page
Do Class Name
disease of metabolism; genetic disease
Disease Type
disease
Do Disease Class
genetic disease; disease of metabolism
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Cerebral Creatine Deficiency Syndrome 1
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Mental diseases;Neuronal diseases
Disease Definition
NCI2016_02D:A rare X-linked inherited disorder. It is caused by mutations in the SLC6A8 gene resulting in the absence of a compound needed to transport creatine into cells. It manifests with intellectual disability, seizures, short stature, and midface hypoplasia.Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial feaSuccinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to sev
Me Sh Disease Class
Mental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders
Umls Semantic Type Name
Disease or Syndrome