C0000737 |
Abdominal Pain
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
|
Abnormality of the digestive system; Constitutional symptom
|
225 |
C4022916 |
Abnormal aldolase level
|
phenotype |
|
Finding
|
|
Abnormality of metabolism/homeostasis
|
16 |
C4073168 |
Abnormal lactate dehydrogenase activity
|
phenotype |
|
Finding
|
|
Abnormality of metabolism/homeostasis
|
18 |
C4025845 |
Abnormality iris morphology
|
disease |
|
Anatomical Abnormality
|
|
Abnormality of the eye
|
25 |
C2673431 |
Abnormality of the periventricular white matter
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Anatomical Abnormality
|
|
Abnormality of the nervous system
|
38 |
C4024905 |
Abnormality of the pons
|
disease |
|
Anatomical Abnormality
|
|
Abnormality of the nervous system
|
7 |
C4073139 |
Abnormality of the tongue muscle
|
phenotype |
|
Anatomical Abnormality
|
|
Abnormality of head or neck; Abnormality of the musculature
|
5 |
C4021776 |
Abnormality of the voice
|
disease |
|
Finding
|
|
Abnormality of the voice
|
64 |
C0431371 |
Absence of septum pellucidum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
|
Abnormality of the nervous system
|
82 |
C0234146 |
Absent reflex
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
|
Abnormality of the nervous system
|
193 |
C1854882 |
Absent speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
|
Abnormality of the nervous system
|
204 |
C0600033 |
Acquired Kyphoscoliosis
|
disease |
Musculoskeletal Diseases
|
Acquired Abnormality
|
|
|
135 |
C0175754 |
Agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
|
Abnormality of the nervous system
|
202 |
C1879312 |
Agyria
|
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
|
13 |
C0003119 |
Anophthalmos
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
|
Abnormality of the eye
|
59 |
C0003466 |
Anus, Imperforate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
disease of anatomical entity; physical disorder
|
Abnormality of the digestive system
|
116 |
C4025773 |
Aplasia/Hypoplasia involving the skeletal musculature
|
phenotype |
|
Finding
|
|
Abnormality of the musculature
|
19 |
C3279222 |
Aplasia/Hypoplasia of the cerebellum
|
phenotype |
|
Finding
|
|
Abnormality of the nervous system
|
112 |
C1866190 |
Atresia of the external auditory canal
|
disease |
|
Anatomical Abnormality
|
|
Abnormality of the ear
|
43 |
C0521694 |
Atrophic retina
|
disease |
Eye Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the eye
|
17 |
C0856975 |
Autistic behavior
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
|
Abnormality of the nervous system
|
192 |
C1843697 |
Axial muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
|
Abnormality of the musculature
|
28 |
C4551488 |
Bifid uvula
|
disease |
|
Congenital Abnormality
|
|
Abnormality of head or neck
|
91 |
C0456909 |
Blindness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the eye
|
231 |
C1843057 |
Calf muscle hypertrophy
|
phenotype |
|
Finding
|
|
Abnormality of limbs; Abnormality of the musculature
|
46 |