DiseaseID 7605
脯氨酸肽酶缺乏症
disease
NCI2016_02D:A rare autosomal recessive inherited inborn error of metabolism caused by mutations in the PEPD gene. Signs and symptoms include facial abnormalities, mental retardation, skin ulcers, susceptibility to infect
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Disease: 1Symptom: 7Target: 2Links: 9
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 7605
- Core Entity Id
- 64428
- Source Entity Count
- 1
- Preferred Name
- Deficiency of Prolidase
- Name Cn
- 脯氨酸肽酶缺乏症
- Name Pinyin
- Pu An Suan Tai Mei Que Fa Zheng
- Name En
- Deficiency of Prolidase
- 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
- Do Class
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities
- Hpo Class Name
- Do Class Name
- Disease Definition
- NCI2016_02D:A rare autosomal recessive inherited inborn error of metabolism caused by mutations in the PEPD gene. Signs and symptoms include facial abnormalities, mental retardation, skin ulcers, susceptibility to infections, and skeletal abnormalities.|MSH2017_2016_08_12:Rare autosomal recessive disorder of metabolism due to mutations in the prolidase gene. It is characterized by recurrent lower extremity skin ulcers, recurrent infections, and FACIES, often with INTELLECTUAL DISABILITY.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Deficiency of Prolidase
Role
preferred
Name
Deficiencies, Prolidase
Role
alias
Name
Prolidase Deficiency
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS006345
Me Sh
D056732
Omim
170100
Sym Map
SMDE07759
Dis Ge Net
C0268532
Umls Sty
T047
Me Sh Class
C16
Tcmbank Disease
3808
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 recessive inherited inborn error of metabolism caused by mutations in the PEPD gene. Signs and symptoms include facial abnormalities, mental retardation, skin ulcers, susceptibility to infections, and skeletal abnormalities.|MSH2017_2016_08_12:Rare autosomal recessive disorder of metabolism due to mutations in the prolidase gene. It is characterized by recurrent lower extremity skin ulcers, recurrent infections, and FACIES, often with INTELLECTUAL DISABILITY.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Umls Semantic Type Name
Disease or Syndrome