DiseaseID 7221
斯蒂克勒综合征
disease
NCI2016_02D:A rare autosomal dominant syndrome caused by mutations in the COL11A1, COL11A2, and COL2A1 genes which affect the production of type II and XI collagen. It is characterized by a range of signs and symptoms in
Relationship Network
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Disease: 1Symptom: 4Target: 11Links: 15
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 7221
- Core Entity Id
- 63983
- Source Entity Count
- 1
- Preferred Name
- Stickler Syndrome (Disorder)
- Name Cn
- 斯蒂克勒综合征
- Name Pinyin
- Si Di Ke Lei Zong He Zheng
- Name En
- Stickler Syndrome (Disorder)
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Musculoskeletal Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
- Do Class
- Hpo Class
- Mesh Class Name
- Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases
- Hpo Class Name
- Do Class Name
- Disease Definition
- NCI2016_02D:A rare autosomal dominant syndrome caused by mutations in the COL11A1, COL11A2, and COL2A1 genes which affect the production of type II and XI collagen. It is characterized by a range of signs and symptoms including cleft palate, large tongue, small lower jaw, hearing loss, myopia, glaucoma, retinal detachment, skeletal, and joint abnormalities.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Stickler Syndrome (Disorder)
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS005776
Umls
C0265253
Sym Map
SMDE13649
Dis Ge Net
C0265253
Umls Sty
T047
Me Sh Class
C05C11C16C23
Tcmbank Disease
31072
Itcmdb Generated
ITX-DISEASE-5761D1ABD6BD
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Disease Definition
NCI2016_02D:A rare autosomal dominant syndrome caused by mutations in the COL11A1, COL11A2, and COL2A1 genes which affect the production of type II and XI collagen. It is characterized by a range of signs and symptoms including cleft palate, large tongue, small lower jaw, hearing loss, myopia, glaucoma, retinal detachment, skeletal, and joint abnormalities.
Me Sh Disease Class
Musculoskeletal Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases
Umls Semantic Type Name
Disease or Syndrome