C1849930 |
Persistent Mullerian duct syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Anatomical Abnormality
|
disease of anatomical entity
|
|
2 |
12 |
C2748545 |
QUESTION MARK EARS, ISOLATED
|
disease |
|
Anatomical Abnormality
|
|
|
1 |
1 |
C2919945 |
Cavernous Hemangioma of Brain
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Anatomical Abnormality
|
disease of anatomical entity
|
|
1 |
0 |
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
|
6 |
16 |
C0546264 |
Congenital Fiber Type Disproportion
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity
|
|
3 |
13 |
C0546966 |
Monilethrix
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
genetic disease
|
|
3 |
9 |
C0010417 |
Cryptorchidism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
physical disorder
|
Abnormality of the genitourinary system
|
2 |
4 |
C0079153 |
Hyperkeratosis, Epidermolytic
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity
|
Abnormality of the integument
|
2 |
24 |
C0079299 |
Epidermolysis Bullosa Simplex Kobner
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity
|
|
2 |
18 |
C0266484 |
Schizencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
disease of anatomical entity
|
Abnormality of the nervous system
|
2 |
3 |
C0267663 |
Congenital secretory diarrhea, sodium type (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity
|
|
2 |
5 |
C0311338 |
Fundus Albipunctatus
|
disease |
Eye Diseases
|
Congenital Abnormality
|
disease of anatomical entity
|
Abnormality of the eye
|
2 |
17 |
C0339277 |
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
disease of anatomical entity
|
Abnormality of the eye
|
2 |
17 |
C0342907 |
Sitosterolemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity
|
|
2 |
15 |
C1832702 |
BRACHYDACTYLY, TYPE A2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity
|
Abnormality of limbs; Abnormality of the skeletal system
|
2 |
5 |
C0001080 |
Achondroplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity
|
|
1 |
3 |
C0001193 |
Apert syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity; syndrome
|
|
1 |
2 |
C0002902 |
Anencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
disease of anatomical entity; physical disorder
|
Abnormality of the nervous system
|
1 |
0 |
C0003076 |
Aniridia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
disease of anatomical entity
|
Abnormality of the eye
|
1 |
8 |
C0009081 |
Congenital clubfoot
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
disease of anatomical entity
|
Abnormality of limbs
|
1 |
1 |
C0009363 |
Congenital ocular coloboma (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
disease of anatomical entity
|
Abnormality of the eye
|
1 |
1 |
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 |
2 |
C0080024 |
Piebaldism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
genetic disease
|
Abnormality of the integument
|
1 |
6 |
C0220664 |
BRACHYDACTYLY, TYPE D
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity
|
Abnormality of limbs; Abnormality of the skeletal system
|
1 |
1 |
C0220668 |
Congenital contractural arachnodactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
disease of anatomical entity
|
|
1 |
11 |