DiseaseID 9052
常染色体隐性遗传性骨硬化症3型
disease
NCI2016_02D:A rare, autosomal recessive inherited disorder caused by mutation in the CA2 gene. It is characterized by osteopetrosis, renal tubular acidosis, and cerebral calcifications. It results in growth failure, ment
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Disease: 1Symptom: 6Target: 2Links: 8
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 9052
- Core Entity Id
- 66069
- Source Entity Count
- 1
- Preferred Name
- Osteopetrosis, Autosomal Recessive 3
- Name Cn
- 常染色体隐性遗传性骨硬化症3型
- Name Pinyin
- Chang Ran Se Ti Yin Xing Yi Chuan Xing Gu Ying Hua Zheng 3 Xing
- Name En
- Osteopetrosis, Autosomal Recessive 3
- 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; Nutritional and Metabolic Diseases; Nervous System Diseases; Male Urogenital Diseases; Musculoskeletal Diseases
- Do Class
- disease of anatomical entity; genetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases
- Hpo Class Name
- Do Class Name
- genetic disease; disease of anatomical entity
- Disease Definition
- NCI2016_02D:A rare, autosomal recessive inherited disorder caused by mutation in the CA2 gene. It is characterized by osteopetrosis, renal tubular acidosis, and cerebral calcifications. It results in growth failure, mental retardation, and fractures.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Osteopetrosis, Autosomal Recessive 3
Role
preferred
Name
Autosomal Recessive Osteopetrosis 3
Role
alias
Name
Osteopetrosis With Renal Tubular Acidosis
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS008281
Omim
259730
Umls
C0345407
Sym Map
SMDE03795
Do Class
DOID:630DOID:7
Dis Ge Net
C0345407
Umls Sty
T047
Me Sh Class
C05C10C12C13C16C18
Tcmbank Disease
26273
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Do Class Name
genetic disease; disease of anatomical entity
Disease Type
disease
Do Disease Class
disease of anatomical entity; genetic disease
Umls Disease Type
Disease or Syndrome
Disease Definition
NCI2016_02D:A rare, autosomal recessive inherited disorder caused by mutation in the CA2 gene. It is characterized by osteopetrosis, renal tubular acidosis, and cerebral calcifications. It results in growth failure, mental retardation, and fractures.
Me Sh Disease Class
Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Male Urogenital Diseases; Musculoskeletal 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; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases
Umls Semantic Type Name
Disease or Syndrome