C1836542 |
Depressed nasal bridge
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
31 |
39 |
C0011168 |
Deglutition Disorders
|
group |
Digestive System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
|
Abnormality of the digestive system; Abnormality of the nervous system; Abnormality of head or neck
|
31 |
38 |
C0018818 |
Ventricular Septal Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
disease of anatomical entity
|
Abnormality of the cardiovascular system
|
31 |
34 |
C4281993 |
Neonatal respiratory distress
|
phenotype |
Respiratory Tract Diseases
|
Finding
|
|
Abnormality of the respiratory system
|
31 |
34 |
C0278701 |
Gastric Adenocarcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
|
30 |
188 |
C1844820 |
Range of joint movement increased
|
phenotype |
|
Finding
|
|
Abnormality of the skeletal system
|
30 |
46 |
C0151786 |
Muscle Weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
|
Abnormality of the musculature
|
30 |
42 |
C0221357 |
Brachydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
30 |
39 |
C0016202 |
Flatfoot
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Anatomical Abnormality
|
|
Abnormality of limbs
|
30 |
38 |
C1840077 |
Anteverted nostril
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
30 |
35 |
C3278923 |
Dilated ventricles (finding)
|
phenotype |
|
Finding
|
|
Abnormality of the nervous system
|
30 |
32 |
C0007194 |
Hypertrophic Cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the cardiovascular system
|
29 |
468 |
C0011860 |
Diabetes Mellitus, Non-Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
disease of metabolism
|
Abnormality of metabolism/homeostasis; Abnormality of the endocrine system
|
29 |
57 |
C0678230 |
Congenital Epicanthus
|
disease |
|
Congenital Abnormality
|
|
Abnormality of head or neck
|
29 |
30 |
C0006142 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
|
28 |
802 |
C0339527 |
Leber Congenital Amaurosis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
28 |
90 |
C0023264 |
Leigh Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
28 |
74 |
C0423224 |
Sunken eyes
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
|
Abnormality of the eye
|
28 |
54 |
C4072872 |
obsolete Rod-cone dystrophy
|
disease |
|
Disease or Syndrome
|
|
|
28 |
41 |
C0026838 |
Muscle Spasticity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
|
Abnormality of the nervous system; Abnormality of the musculature
|
28 |
39 |
C0025362 |
Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
disease of mental health
|
Abnormality of the nervous system
|
28 |
36 |
C0235991 |
Small for gestational age (disorder)
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
|
Finding
|
|
Growth abnormality
|
28 |
34 |
C1837142 |
Poor suck
|
phenotype |
|
Finding
|
|
Abnormality of the digestive system
|
28 |
31 |
C1168401 |
Squamous cell carcinoma of the head and neck
|
disease |
Neoplasms
|
Neoplastic Process
|
disease of cellular proliferation
|
|
27 |
179 |
C0023467 |
Leukemia, Myelocytic, Acute
|
disease |
Neoplasms
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues
|
27 |
141 |