C0399372 |
Amelogenesis Imperfecta hypomaturation type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
|
|
7 |
C0399367 |
Amelogenesis imperfecta local hypoplastic form
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
|
|
6 |
C1960883 |
Spina bifida aperta of cervical spine
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
|
|
6 |
C0026010 |
Microphthalmos
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
disease of anatomical entity
|
Abnormality of the eye
|
5 |
C0266551 |
Congenital coloboma of iris
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
disease of anatomical entity
|
|
5 |
C0344559 |
Irido-corneo-trabecular dysgenesis (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity
|
Abnormality of the eye
|
5 |
C0345427 |
Woolly hair, congenital
|
disease |
Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
|
|
5 |
C0546264 |
Congenital Fiber Type Disproportion
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity
|
|
5 |
C0749420 |
Thyroid Agenesis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity
|
Abnormality of the endocrine system
|
5 |
C4708599 |
Coloboma of choroid and retina
|
disease |
|
Congenital Abnormality
|
|
|
5 |
C0008924 |
Cleft upper lip
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
disease of anatomical entity; syndrome; physical disorder
|
Abnormality of head or neck
|
4 |
C0020302 |
Hydrophthalmos
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity
|
Abnormality of the eye
|
4 |
C0149630 |
Bicuspid aortic valve
|
disease |
Cardiovascular Diseases
|
Congenital Abnormality
|
disease of anatomical entity
|
Abnormality of the cardiovascular system
|
4 |
C0221356 |
Brachycephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
|
Abnormality of head or neck; Abnormality of the skeletal system
|
4 |
C0265529 |
Plagiocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
|
Abnormality of head or neck; Abnormality of the skeletal system
|
4 |
C0282160 |
Aplasia Cutis Congenita
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
|
Abnormality of the integument
|
4 |
C0311338 |
Fundus Albipunctatus
|
disease |
Eye Diseases
|
Congenital Abnormality
|
disease of anatomical entity
|
Abnormality of the eye
|
4 |
C0344516 |
Coloboma of lens
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
|
Abnormality of the eye
|
4 |
C0344523 |
Cataract, congenital, cerulean type 1
|
disease |
Eye Diseases
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity
|
Abnormality of the eye
|
4 |
C0344735 |
Partial atrioventricular canal
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
disease of anatomical entity
|
Abnormality of the cardiovascular system
|
4 |
C0546966 |
Monilethrix
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
genetic disease
|
|
4 |
C0812437 |
Oculo-dento-digital syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
syndrome
|
|
4 |
C1275081 |
Cardio-facio-cutaneous syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
Congenital Abnormality
|
genetic disease; syndrome
|
|
4 |
C1298692 |
Cleft lip and alveolus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
|
|
4 |
C1318518 |
Infantile malignant osteopetrosis
|
disease |
Musculoskeletal Diseases
|
Congenital Abnormality
|
disease of anatomical entity
|
|
4 |