C0009405 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
Neoplastic Process
|
genetic disease
|
|
21 |
C0154860 |
Hereditary retinal dystrophy
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity; syndrome
|
|
7 |
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 |
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 |
C0026650 |
Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the nervous system
|
1 |
C0477317 |
Other primary thrombocytopenia
|
group |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
C0878544 |
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the cardiovascular 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 |
C0264893 |
Nodal rhythm disorder
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
11 |
C0348626 |
Other specified cardiac arrhythmias
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
11 |
C1399226 |
Ectopic rhythm
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
11 |
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 |
C0220993 |
Cystathioninuria
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system
|
1 |
C0268531 |
Hydroxyprolinemia
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
Abnormality of metabolism/homeostasis
|
1 |
C0268548 |
Hyperargininemia
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
Abnormality of metabolism/homeostasis
|
1 |
C0268563 |
Sarcosinemia
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
Abnormality of metabolism/homeostasis
|
1 |
C0340978 |
May-Hegglin anomaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
C1832830 |
Auditory Neuropathy, Nonsyndromic Recessive
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
C1845845 |
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE (disorder)
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
|
|
1 |
C1854061 |
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
|
|
1 |
C2675521 |
BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
|
phenotype |
|
Finding
|
|
|
1 |
C2675522 |
OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
|
phenotype |
|
Finding
|
|
|
1 |
C2676677 |
BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
phenotype |
|
Finding
|
|
|
1 |
C2676678 |
OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
phenotype |
|
Finding
|
|
|
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 |