Prolidase Deficiency

History

Discovery of 1,2,4-thi

Announcement

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"Prolidase Deficiency" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

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.

Descriptor ID	D056732
MeSH Number(s)	C16.131.077.735 C16.131.831.720 C16.320.565.100.794 C16.320.850.746
Concept/Terms	Prolidase Deficiency Prolidase Deficiency Deficiencies, Prolidase Deficiency, Prolidase Prolidase Deficiencies

Below are MeSH descriptors whose meaning is more general than "Prolidase Deficiency".

Diseases [C]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Congenital Abnormalities [C16.131]
Abnormalities, Multiple [C16.131.077]
Prolidase Deficiency [C16.131.077.735]
Skin Abnormalities [C16.131.831]
Prolidase Deficiency [C16.131.831.720]
Genetic Diseases, Inborn [C16.320]
Metabolism, Inborn Errors [C16.320.565]
Amino Acid Metabolism, Inborn Errors [C16.320.565.100]
Prolidase Deficiency [C16.320.565.100.794]
Skin Diseases, Genetic [C16.320.850]
Prolidase Deficiency [C16.320.850.746]

Below are MeSH descriptors whose meaning is related to "Prolidase Deficiency".

Below are MeSH descriptors whose meaning is more specific than "Prolidase Deficiency".

publications

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