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Table 2 Rough Semantic Categories.

From: CSI-OMIM - Clinical Synopsis Search in OMIM

Rough Semantic Category

Description

Examples

Pathology or Finding

Names and symptoms of diseases

"Perthes", "Hexadactyly", "Diffuse atrophy" or "Short finger"

Named entities

Names of chemicals, functions, microorganisms or proteins

"Actin", "Tyrosine", "Insulin" or "Agglutination".

Anatomy

The body part or organ the phenotypes occurs in.

"Cranium bifidum", "Thumb", or "Distal femur"

Modifiers

Concepts describing the phenotype and changing its meaning.

"Absent", "Hypoplastic", "Mild", "Enlarged"