C3698507 |
Post-traumatic Porencephaly
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Acquired Abnormality
|
disease of anatomical entity
|
|
1 |
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
|
|
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 |
C0009691 |
Congenital cataract
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity
|
Abnormality of the eye
|
17 |
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
|
13 |
C0265747 |
Congenital atresia of nasopharynx
|
disease |
Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
genetic disease; syndrome
|
|
13 |
C0478019 |
Other specified congenital malformations of respiratory system
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
|
Congenital Abnormality
|
genetic disease; syndrome
|
|
13 |
C0043346 |
Xeroderma Pigmentosum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
genetic disease
|
|
9 |
C0270960 |
Congenital myopathy (disorder)
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity
|
|
9 |
C0270962 |
Multi-core congenital myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity
|
|
9 |
C0546264 |
Congenital Fiber Type Disproportion
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity
|
|
9 |
C2875316 |
Myotubular (centronuclear) myopathy
|
disease |
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity
|
|
9 |
C0266483 |
Pachygyria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity; syndrome; disease of mental health; physical disorder
|
Abnormality of the nervous system
|
8 |
C0266463 |
Lissencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity; syndrome; disease of mental health; physical disorder
|
Abnormality of the nervous system
|
7 |
C0009081 |
Congenital clubfoot
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
disease of anatomical entity
|
Abnormality of limbs
|
6 |
C0014116 |
Endocardial Cushion Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
disease of anatomical entity
|
Abnormality of the cardiovascular system
|
6 |
C0025958 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
disease of anatomical entity; physical disorder
|
|
6 |
C0002452 |
Amelogenesis Imperfecta
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity
|
Abnormality of head or neck; Abnormality of the skeletal system; Abnormality of connective tissue
|
5 |
C0008445 |
Chondrodysplasia Punctata
|
disease |
Musculoskeletal Diseases
|
Congenital Abnormality
|
genetic disease; syndrome
|
|
5 |
C0031900 |
Pierre Robin Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity; syndrome
|
Abnormality of head or neck
|
5 |
C0432195 |
Short rib dysplasia
|
disease |
Musculoskeletal Diseases; Respiratory Tract Diseases
|
Congenital Abnormality
|
genetic disease
|
|
5 |
C0001080 |
Achondroplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity
|
|
4 |
C0011436 |
Dentinogenesis Imperfecta
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity
|
Abnormality of head or neck; Abnormality of the skeletal system; Abnormality of connective tissue
|
4 |
C0016522 |
Foramen Ovale, Patent
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity
|
Abnormality of the cardiovascular system
|
4 |
C0018817 |
Atrial Septal Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity
|
Abnormality of the cardiovascular system
|
4 |