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Enum: PhenotypeCategoryEnum

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

URI: dismech:PhenotypeCategoryEnum

Permissible Values

Value Meaning Description
Blood HP:0001871 Abnormalities of the hematopoietic system including anemias, coagulopathies, ...
Breast HP:0000769 Abnormalities of breast development, morphology, or function
Cardiovascular HP:0001626 Abnormalities of the heart and vasculature
Digestive HP:0025031 Abnormalities of the gastrointestinal tract, liver, and pancreas
Ear HP:0000598 Abnormalities of ear morphology or hearing
Endocrine HP:0000818 Abnormalities of hormone-producing glands and endocrine regulation
Eye HP:0000478 Abnormalities of the eye and visual system
Genitourinary HP:0000119 Abnormalities of the kidneys, urinary tract, and reproductive organs
Head and Neck HP:0000152 Abnormalities of craniofacial structures and the neck
Immune HP:0002715 Abnormalities of innate or adaptive immunity
Integument HP:0001574 Abnormalities of skin, hair, nails, and sweat glands
Limbs HP:0040064 Abnormalities of upper or lower limb structure
Metabolism HP:0001939 Abnormalities of metabolic processes and biochemical homeostasis
Musculoskeletal HP:0033127 Abnormalities of bones, joints, muscles, and connective tissue
Nervous System HP:0000707 Abnormalities of the central and peripheral nervous system
Prenatal and Birth HP:0001197 Abnormalities arising during prenatal development or at birth
Respiratory HP:0002086 Abnormalities of the airways, lungs, and respiratory function
Thoracic Cavity HP:0045027 Abnormalities of thoracic structures (pleura, mediastinum, diaphragm)
Voice HP:0001608 Abnormalities of voice production and quality
Cellular HP:0025354 Abnormalities at the cellular level including cell morphology and behavior
Constitutional HP:0025142 Systemic symptoms such as fever, fatigue, and weight loss
Growth HP:0001507 Abnormalities of growth including short stature, tall stature, and growth del...
Neoplasm HP:0002664 Benign or malignant neoplasms (tumors)

Identifier and Mapping Information

Schema Source

  • from schema: https://w3id.org/monarch-initiative/dismech

LinkML Source

name: PhenotypeCategoryEnum
description: Broad phenotype categories from the Human Phenotype Ontology. Each value
  corresponds to a direct child of HP:0000118 (Phenotypic abnormality).
from_schema: https://w3id.org/monarch-initiative/dismech
rank: 1000
permissible_values:
  Blood:
    text: Blood
    description: Abnormalities of the hematopoietic system including anemias, coagulopathies,
      and leukocyte disorders
    meaning: HP:0001871
    title: Abnormality of blood and blood-forming tissues
  Breast:
    text: Breast
    description: Abnormalities of breast development, morphology, or function
    meaning: HP:0000769
    title: Abnormality of the breast
  Cardiovascular:
    text: Cardiovascular
    description: Abnormalities of the heart and vasculature
    meaning: HP:0001626
    title: Abnormality of the cardiovascular system
  Digestive:
    text: Digestive
    description: Abnormalities of the gastrointestinal tract, liver, and pancreas
    meaning: HP:0025031
    title: Abnormality of the digestive system
  Ear:
    text: Ear
    description: Abnormalities of ear morphology or hearing
    meaning: HP:0000598
    title: Abnormality of the ear
  Endocrine:
    text: Endocrine
    description: Abnormalities of hormone-producing glands and endocrine regulation
    meaning: HP:0000818
    title: Abnormality of the endocrine system
  Eye:
    text: Eye
    description: Abnormalities of the eye and visual system
    meaning: HP:0000478
    title: Abnormality of the eye
  Genitourinary:
    text: Genitourinary
    description: Abnormalities of the kidneys, urinary tract, and reproductive organs
    meaning: HP:0000119
    title: Abnormality of the genitourinary system
  Head and Neck:
    text: Head and Neck
    description: Abnormalities of craniofacial structures and the neck
    meaning: HP:0000152
    title: Abnormality of head or neck
  Immune:
    text: Immune
    description: Abnormalities of innate or adaptive immunity
    meaning: HP:0002715
    title: Abnormality of the immune system
  Integument:
    text: Integument
    description: Abnormalities of skin, hair, nails, and sweat glands
    meaning: HP:0001574
    title: Abnormality of the integument
  Limbs:
    text: Limbs
    description: Abnormalities of upper or lower limb structure
    meaning: HP:0040064
    title: Abnormality of limbs
  Metabolism:
    text: Metabolism
    description: Abnormalities of metabolic processes and biochemical homeostasis
    meaning: HP:0001939
    title: Abnormality of metabolism/homeostasis
  Musculoskeletal:
    text: Musculoskeletal
    description: Abnormalities of bones, joints, muscles, and connective tissue
    meaning: HP:0033127
    title: Abnormality of the musculoskeletal system
  Nervous System:
    text: Nervous System
    description: Abnormalities of the central and peripheral nervous system
    meaning: HP:0000707
    title: Abnormality of the nervous system
  Prenatal and Birth:
    text: Prenatal and Birth
    description: Abnormalities arising during prenatal development or at birth
    meaning: HP:0001197
    title: Abnormality of prenatal development or birth
  Respiratory:
    text: Respiratory
    description: Abnormalities of the airways, lungs, and respiratory function
    meaning: HP:0002086
    title: Abnormality of the respiratory system
  Thoracic Cavity:
    text: Thoracic Cavity
    description: Abnormalities of thoracic structures (pleura, mediastinum, diaphragm)
    meaning: HP:0045027
    title: Abnormality of the thoracic cavity
  Voice:
    text: Voice
    description: Abnormalities of voice production and quality
    meaning: HP:0001608
    title: Abnormality of the voice
  Cellular:
    text: Cellular
    description: Abnormalities at the cellular level including cell morphology and
      behavior
    meaning: HP:0025354
    title: Abnormal cellular phenotype
  Constitutional:
    text: Constitutional
    description: Systemic symptoms such as fever, fatigue, and weight loss
    meaning: HP:0025142
    title: Constitutional symptom
  Growth:
    text: Growth
    description: Abnormalities of growth including short stature, tall stature, and
      growth delay
    meaning: HP:0001507
    title: Growth abnormality
  Neoplasm:
    text: Neoplasm
    description: Benign or malignant neoplasms (tumors)
    meaning: HP:0002664
    title: Neoplasm