DiseaseID 7234
Kenny-Caffey综合征
disease
JABL99:In the classical form, the syndrome involves the skeletal and endocrine system and is manifested by inner cortical thickening with stenosis of the medullary cavities of the tubular bones, short stature, episodes o
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Disease: 1Symptom: 3Target: 20Links: 27
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 7234
- Core Entity Id
- 63998
- Source Entity Count
- 1
- Preferred Name
- Kenny-Caffey Syndrome
- Name Cn
- Kenny-Caffey综合征
- Name Pinyin
- Kenny-caffey Zong He Zheng
- Name En
- Kenny-Caffey Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesEndocrine System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
- Do Class
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases
- Hpo Class Name
- Do Class Name
- Disease Definition
- JABL99:In the classical form, the syndrome involves the skeletal and endocrine system and is manifested by inner cortical thickening with stenosis of the medullary cavities of the tubular bones, short stature, episodes of hypocalcemia due to hypoparathyroidism, and macrocephaly. The phenotype was expanded in later cases to include central nervous system and immunological disorders and psychomotor retardation.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Kenny-Caffey Syndrome
Role
preferred
Name
Kenny-Caffey Syndrome, Type 1
Role
preferred
Name
Kenny-Caffey Syndrome, Type 2
Role
preferred
Name
DWARFISM, CORTICAL THICKENING OF TUBULAR BONES, AND TRANSIENT HYPOCALCEMIA
Role
alias
Name
KCS
Role
alias
Name
KCS1
Role
alias
Name
KCS2
Role
alias
Name
KENNY SYNDROME
Role
alias
Name
KENNY-CAFFEY SYNDROME, AUTOSOMAL RECESSIVE
Role
alias
Name
Kenny Caffey Syndrome
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS005800HBDIS017188HBDIS026403
Omim
127000244460
Umls
C0265291C1855648
Sym Map
SMDE00071SMDE00519
Dis Ge Net
C0265291C1855648C4316787
Umls Sty
T047
Me Sh Class
C05C16C18C19
Etcm Disease
Kenny-Caffey Syndrome, Type 1Kenny-Caffey Syndrome, Type 2
Tcmbank Disease
19272495428258
Itcmdb Generated
ITX-DISEASE-22BDF89DA849ITX-DISEASE-7BB55B1B9E15
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Kenny-Caffey Syndrome, Type 1 Details pageDisease Kenny-Caffey Syndrome, Type 2 Details page
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Kenny-Caffey Syndrome, Type 1
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Endocrine diseases
Disease Name
Kenny-Caffey Syndrome, Type 2
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Endocrine diseases
Disease Definition
JABL99:In the classical form, the syndrome involves the skeletal and endocrine system and is manifested by inner cortical thickening with stenosis of the medullary cavities of the tubular bones, short stature, episodes of hypocalcemia due to hypoparathyroidism, and macrocephaly. The phenotype was expanded in later cases to include central nervous system and immunological disorders and psychomotor retardation.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesEndocrine System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases
Umls Semantic Type Name
Disease or Syndrome