DiseaseID 4756
眼脑肾综合征
disease
Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfuncti
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Disease: 1Symptom: 12Target: 1Links: 13
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 4756
- Core Entity Id
- 61153
- Source Entity Count
- 1
- Preferred Name
- Oculocerebrorenal Syndrome
- Name Cn
- 眼脑肾综合征
- Name Pinyin
- Yan Nao Shen Zong He Zheng
- Name En
- Oculocerebrorenal Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases; Male Urogenital Diseases
- Do Class
- genetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases
- Hpo Class Name
- Do Class Name
- genetic disease
- Disease Definition
- Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfuncti
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Oculocerebrorenal Syndrome
Role
preferred
Name
Oculocerebrorenal Syndrome Of Lowe
Role
preferred
Name
Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency
Role
preferred
Name
Lowe Oculocerebrorenal Syndrome
Role
alias
Name
Lowe Syndrome
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS002160HBDIS019657
Me Sh
D009800
Omim
309000
Umls
C0028860
Med Dra
10051707
Sym Map
SMDE01215SMDE12149
Do Class
DOID:630
Dis Ge Net
C0028860C2713392
Orphanet
534
Umls Sty
T047
Me Sh Class
C10C12C13C16C18
Tcmbank Disease
2287623686
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2v2
Suppress
0
Do Class Name
genetic disease
Disease Type
disease
Do Disease Class
genetic disease
Umls Disease Type
Disease or Syndrome
Disease Definition
Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfuncti
Me Sh Disease Class
Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases; Male Urogenital Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases
Umls Semantic Type Name
Disease or Syndrome