C0027672 |
Neoplastic Syndromes, Hereditary
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
Neoplastic Process
|
|
|
67 |
6385 |
C2675520 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
|
disease |
|
Finding
|
|
|
2 |
2633 |
C2676676 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
disease |
|
Finding
|
|
|
3 |
2273 |
C0677776 |
Hereditary Breast and Ovarian Cancer Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
Neoplastic Process
|
genetic disease; syndrome
|
|
17 |
2106 |
C0020445 |
Hypercholesterolemia, Familial
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
5 |
1340 |
C1333990 |
Hereditary Nonpolyposis Colorectal Cancer
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
Neoplastic Process
|
genetic disease
|
|
6 |
1268 |
C0024796 |
Marfan Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
6 |
992 |
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
|
|
6 |
875 |
C0006142 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
|
28 |
802 |
C0027831 |
Neurofibromatosis 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
genetic disease
|
|
1 |
764 |
C0004135 |
Ataxia Telangiectasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
2 |
661 |
C0432072 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
|
|
335 |
611 |
C0026827 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
|
Abnormality of the musculature
|
336 |
579 |
C0010674 |
Cystic Fibrosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
genetic disease
|
|
4 |
563 |
C0745103 |
Hyperlipoproteinemia Type IIa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
5 |
519 |
C0557874 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
|
Abnormality of the nervous system
|
303 |
505 |
C0007194 |
Hypertrophic Cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the cardiovascular system
|
29 |
468 |
C0007193 |
Cardiomyopathy, Dilated
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
Abnormality of the cardiovascular system
|
43 |
443 |
C4707243 |
Familial thoracic aortic aneurysm and aortic dissection
|
disease |
|
Disease or Syndrome
|
disease of anatomical entity
|
|
21 |
442 |
C0919267 |
ovarian neoplasm
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
Abnormality of the genitourinary system; Neoplasm
|
39 |
436 |
C0035334 |
Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the eye
|
88 |
420 |
C0036572 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
disease of anatomical entity
|
Abnormality of the nervous system
|
237 |
417 |
C1522133 |
Hypercholesterolemia result
|
phenotype |
|
Finding
|
|
|
3 |
415 |
C1843367 |
Poor school performance
|
phenotype |
|
Finding
|
|
Abnormality of the nervous system
|
211 |
411 |
C0008780 |
Ciliary Motility Disorders
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
genetic disease; syndrome
|
Abnormality of the respiratory system
|
36 |
402 |