Phenotype Category Classification

Broad phenotype categories corresponding to the top-level organ-system groupings in the Human Phenotype Ontology (HPO). These are the direct children of HP:0000118 (Phenotypic abnormality) and are used to classify phenotypes by affected system.

Schema enum: PhenotypeCategoryEnum Schema source: https://w3id.org/monarch-initiative/dismech/classifications/phenotype_category

Schema Enum Description

Broad phenotype categories from the Human Phenotype Ontology. Each value corresponds to a direct child of HP:0000118 (Phenotypic abnormality).

Abnormality of blood and blood-forming tissues Blood term

Abnormalities of the hematopoietic system including anemias, coagulopathies, and leukocyte disorders
Abnormality of the breast Breast term

Abnormalities of breast development, morphology, or function
Abnormality of the cardiovascular system Cardiovascular term

Abnormalities of the heart and vasculature
Abnormality of the digestive system Digestive term

Abnormalities of the gastrointestinal tract, liver, and pancreas
Abnormality of the ear Ear term

Abnormalities of ear morphology or hearing
Abnormality of the endocrine system Endocrine term

Abnormalities of hormone-producing glands and endocrine regulation
Abnormality of the eye Eye term

Abnormalities of the eye and visual system
Abnormality of the genitourinary system Genitourinary term

Abnormalities of the kidneys, urinary tract, and reproductive organs
Abnormality of head or neck Head and Neck term

Abnormalities of craniofacial structures and the neck
Abnormality of the immune system Immune term

Abnormalities of innate or adaptive immunity
Abnormality of the integument Integument term

Abnormalities of skin, hair, nails, and sweat glands
Abnormality of limbs Limbs term

Abnormalities of upper or lower limb structure
Abnormality of metabolism/homeostasis Metabolism term

Abnormalities of metabolic processes and biochemical homeostasis
Abnormality of the musculoskeletal system Musculoskeletal term

Abnormalities of bones, joints, muscles, and connective tissue
Abnormality of the nervous system Nervous System term

Abnormalities of the central and peripheral nervous system
Abnormality of prenatal development or birth Prenatal and Birth term

Abnormalities arising during prenatal development or at birth
Abnormality of the respiratory system Respiratory term

Abnormalities of the airways, lungs, and respiratory function
Abnormality of the thoracic cavity Thoracic Cavity term

Abnormalities of thoracic structures (pleura, mediastinum, diaphragm)
Abnormality of the voice Voice term

Abnormalities of voice production and quality
Abnormal cellular phenotype Cellular term

Abnormalities at the cellular level including cell morphology and behavior
Constitutional symptom Constitutional term

Systemic symptoms such as fever, fatigue, and weight loss
Growth abnormality Growth term

Abnormalities of growth including short stature, tall stature, and growth delay
Neoplasm term

Benign or malignant neoplasms (tumors)