DiseaseID 2360

小髌骨综合征

disease

Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis.

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Disease: 1Target: 1Links: 1
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Record Fields

Scalar fields from the final disease record.

Disease Id
2360
Core Entity Id
2661
Source Entity Count
1
Preferred Name
Small Patella Syndrome
Name Cn
小髌骨综合征
Name Pinyin
Xiao Bin Gu Zong He Zheng
Name En
Small Patella Syndrome
Name Latin
Bilingual Status
complete
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Disgenet Type
disease
Mesh Class
Musculoskeletal DiseasesMusculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
Do Class
disease of anatomical entity; genetic disease
Hpo Class
Mesh Class Name
Musculoskeletal Diseases
Hpo Class Name
Do Class Name
genetic disease; disease of anatomical entity
Disease Definition
Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis.
Version
v1
Suppressed
No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name
Small Patella Syndrome
Role
preferred
Name
Coxopodopatellar Syndrome
Role
preferred
Name
Patella Aplasia, Coxa Vara, Tarsal Synostosis
Role
preferred
Name
Ischiocoxopodopatellar Syndrome
Role
alias
Name
Ischiopatellar Dysplasia
Role
alias
Name
Patella Aplasia, Coxa Vara, And Tarsal Synostosis
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Herb
HBDIS015819HBDIS029052
Omim
147891
Umls
C1840061C1868581
Icd10
Q74.1
Sym Map
SMDE01074
Do Class
DOID:630DOID:7
Dis Ge Net
C1840061C1868581
Orphanet
1509
Umls Sty
T047
Me Sh Class
C05C16C23
Tcmbank Disease
24394
Itcmdb Generated
ITX-DISEASE-53F8204DAD28

Attributes

Merged source attributes and domain-specific metadata.

Version
v1
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
Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis.
Me Sh Disease Class
Musculoskeletal DiseasesMusculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Musculoskeletal Diseases
Umls Semantic Type Name
Disease or Syndrome