C0432072 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
|
|
335 |
611 |
C0557874 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
|
Abnormality of the nervous system
|
303 |
505 |
C0036572 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
disease of anatomical entity
|
Abnormality of the nervous system
|
237 |
417 |
C0000772 |
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
|
|
237 |
350 |
C1843367 |
Poor school performance
|
phenotype |
|
Finding
|
|
Abnormality of the nervous system
|
211 |
411 |
C4551563 |
Microcephaly (physical finding)
|
phenotype |
|
Finding
|
|
Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system
|
160 |
246 |
C0424503 |
Dysmorphic facies
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
88 |
106 |
C1854882 |
Absent speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
|
Abnormality of the nervous system
|
46 |
72 |
C0025990 |
Micrognathism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
|
Abnormality of head or neck; Abnormality of the skeletal system
|
46 |
52 |
C1458155 |
Mammary Neoplasms
|
group |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
Neoplasm; Abnormality of the breast
|
34 |
314 |
C0278701 |
Gastric Adenocarcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
|
30 |
188 |
C3278923 |
Dilated ventricles (finding)
|
phenotype |
|
Finding
|
|
Abnormality of the nervous system
|
30 |
32 |
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
|
23 |
33 |
C0149782 |
Squamous cell carcinoma of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
Neoplasm; Abnormality of the respiratory system
|
22 |
135 |
C0281361 |
Adenocarcinoma of pancreas
|
disease |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
Abnormality of the digestive system; Neoplasm
|
18 |
114 |
C0007112 |
Adenocarcinoma of prostate
|
disease |
Neoplasms; Male Urogenital Diseases
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
|
16 |
96 |
C0454641 |
Expressive language delay
|
phenotype |
|
Disease or Syndrome
|
|
Abnormality of the nervous system
|
16 |
25 |
C0426891 |
Broad thumbs
|
phenotype |
|
Finding
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
9 |
11 |
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
|
9 |
8 |
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
|
3 |
3 |
C4023386 |
Morphological abnormality of the semicircular canal
|
disease |
|
Anatomical Abnormality
|
|
Abnormality of the ear
|
2 |
2 |
C0220769 |
FG syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease
|
|
1 |
10 |
C3698541 |
Ohdo syndrome, Maat-Kievit-Brunner type
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases
|
Disease or Syndrome
|
syndrome
|
|
1 |
5 |
C0796022 |
Lujan Fryns syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
genetic disease; disease of mental health
|
|
1 |
3 |
C4022856 |
Skewed maternal X inactivation
|
phenotype |
|
Cell or Molecular Dysfunction
|
|
Abnormality of prenatal development or birth
|
1 |
1 |