C0020608 |
Hypodontia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
disease of anatomical entity
|
Abnormality of head or neck
|
12 |
C4082304 |
Oligodontia
|
disease |
|
Congenital Abnormality
|
disease of anatomical entity
|
Abnormality of head or neck
|
12 |
C2931456 |
Prostate cancer, familial
|
disease |
Neoplasms; Male Urogenital Diseases
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
|
12 |
C4510744 |
46,XY partial gonadal dysgenesis
|
disease |
|
Disease or Syndrome
|
|
|
11 |
C0009447 |
Common Variable Immunodeficiency
|
disease |
Immune System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
11 |
C0079154 |
Congenital Nonbullous Ichthyosiform Erythroderma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
Abnormality of the integument
|
11 |
C0268237 |
Cytochrome-c Oxidase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome; Congenital Abnormality
|
genetic disease; disease of metabolism
|
|
11 |
C2314896 |
Familial Atypical Mole Melanoma Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
Neoplastic Process
|
genetic disease
|
|
11 |
C1112155 |
Hereditary non-polyposis colorectal cancer syndrome
|
disease |
|
Congenital Abnormality
|
genetic disease
|
|
11 |
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
|
|
11 |
C2931092 |
Maternally Inherited Leigh Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
|
|
11 |
C0268362 |
Osteogenesis imperfecta type III (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
11 |
C0039685 |
Tetralogy of Fallot
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
disease of anatomical entity
|
Abnormality of the cardiovascular system
|
11 |
C1868683 |
B-CELL MALIGNANCY, LOW-GRADE
|
disease |
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
|
10 |
C0023434 |
Chronic Lymphocytic Leukemia
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues
|
10 |
C0265275 |
Jeune thoracic dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
genetic disease
|
|
10 |
C0268363 |
Osteogenesis imperfecta type IV (disorder)
|
disease |
|
Disease or Syndrome; Congenital Abnormality
|
genetic disease; disease of anatomical entity
|
|
10 |
C0403553 |
Renal dysplasia and retinal aplasia (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease
|
|
10 |
C0855095 |
Small Lymphocytic Lymphoma
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
|
10 |
C2936346 |
22q11 Deletion Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
|
|
9 |
C3266101 |
22q11 partial monosomy syndrome
|
disease |
|
Disease or Syndrome
|
|
|
9 |
C0279607 |
Adult Hepatocellular Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
|
9 |
C0431406 |
Asymmetric crying face association
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
|
Abnormality of head or neck
|
9 |
C0752166 |
Bardet-Biedl Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
9 |
C4011788 |
Behavioral variant of frontotemporal dementia
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
|
|
9 |