DiseaseID 5779
彭德莱综合征
disease
Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter.
Relationship Network
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Disease: 1Symptom: 6Target: 12Links: 18
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 5779
- Core Entity Id
- 62333
- Source Entity Count
- 1
- Preferred Name
- Pendred'S Syndrome
- Name Cn
- 彭德莱综合征
- Name Pinyin
- Peng De Lai Zong He Zheng
- Name En
- Pendred'S Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Endocrine System DiseasesEndocrine System Diseases; Otorhinolaryngologic Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms
- Do Class
- disease of anatomical entity; genetic disease
- Hpo Class
- Mesh Class Name
- Endocrine System DiseasesPathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
- Hpo Class Name
- Do Class Name
- genetic disease; disease of anatomical entity
- Disease Definition
- Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Pendred'S Syndrome
Role
preferred
Name
Pendred Syndrome
Role
preferred
Name
Dyshormonogenic Goiter
Role
preferred
Name
DEAFNESS WITH GOITER
Role
alias
Name
Dyshormogenetic Goitre
Role
alias
Name
Goiter-deafness Syndrome
Role
alias
Name
HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B
Role
alias
Name
PDS
Role
alias
Name
TDH2B
Role
alias
Name
THYROID DYSHORMONOGENESIS 2B
Role
alias
Name
THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2B
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS003660HBDIS006674
Omim
274600
Umls
C0271829
Icd10
E07.1
Sym Map
SMDE02474
Do Class
DOID:630DOID:7
Dis Ge Net
C0152077C0271829
Orphanet
705
Umls Sty
T047
Me Sh Class
C09C10C19C23
Tcmbank Disease
2245225772
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
Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter.
Me Sh Disease Class
Endocrine System DiseasesEndocrine System Diseases; Otorhinolaryngologic Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Endocrine System DiseasesPathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
Umls Semantic Type Name
Disease or Syndrome