C0015306 |
Hereditary Multiple Exostoses
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity
|
Neoplasm; Abnormality of the skeletal system
|
1 |
C1266144 |
Pleuropulmonary blastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
Neoplasm; Abnormality of the respiratory system
|
1 |
C0003886 |
Arthrogryposis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
|
Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature
|
2 |
C0025149 |
Medulloblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
Abnormality of the nervous system; Neoplasm
|
1 |
C0014544 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the nervous system
|
4 |
C0026650 |
Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the nervous system
|
1 |
C0205711 |
Pelizaeus-Merzbacher Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
Abnormality of the nervous system
|
1 |
C1510586 |
Autism Spectrum Disorders
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
disease of mental health
|
Abnormality of the nervous system
|
1 |
C2751584 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency
|
phenotype |
Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
Abnormality of the nervous system
|
1 |
C3714756 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
disease of mental health
|
Abnormality of the nervous system
|
1 |
C2678065 |
Myofibrillar Myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the musculature
|
1 |
C1867439 |
Pterygium, Antecubital
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
|
Abnormality of the integument; Abnormality of the skeletal system
|
1 |
C0002986 |
Fabry Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
Abnormality of the integument; Abnormality of the cardiovascular system
|
1 |
C0162361 |
Hidrotic Ectodermal Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
genetic disease; syndrome
|
Abnormality of the integument
|
1 |
C0023467 |
Leukemia, Myelocytic, Acute
|
disease |
Neoplasms
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues
|
1 |
C0085110 |
Severe Combined Immunodeficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the immune system
|
1 |
C1306837 |
Papillary Renal Cell Carcinoma
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
Abnormality of the genitourinary system; Neoplasm
|
1 |
C0022680 |
Polycystic Kidney Diseases
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity; syndrome
|
Abnormality of the genitourinary system
|
2 |
C0035334 |
Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the eye
|
1 |
C0452138 |
Sensorineural hearing loss, bilateral
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
Abnormality of the ear
|
3 |
C1863752 |
Enlarged Vestibular Aqueduct
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Finding
|
disease of anatomical entity
|
Abnormality of the ear
|
2 |
C0238198 |
Gastrointestinal Stromal Tumors
|
group |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
Abnormality of the digestive system; Neoplasm
|
2 |
C0007194 |
Hypertrophic Cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the cardiovascular system
|
31 |
C0878544 |
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the cardiovascular system
|
1 |
C0010691 |
Cystinuria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism; disease of anatomical entity
|
Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system
|
2 |