C0432072 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
|
|
335 |
611 |
C0026827 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
|
Abnormality of the musculature
|
336 |
579 |
C0557874 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
|
Abnormality of the nervous system
|
303 |
505 |
C0007194 |
Hypertrophic Cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the cardiovascular system
|
29 |
468 |
C0919267 |
ovarian neoplasm
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
Abnormality of the genitourinary system; Neoplasm
|
39 |
436 |
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 |
C1843367 |
Poor school performance
|
phenotype |
|
Finding
|
|
Abnormality of the nervous system
|
211 |
411 |
C0000772 |
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
|
|
237 |
350 |
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 |
C0349588 |
Short stature
|
phenotype |
|
Finding
|
|
Growth abnormality
|
190 |
292 |
C0026650 |
Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the nervous system
|
162 |
240 |
C0009404 |
Colorectal Neoplasms
|
group |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
Abnormality of the digestive system; Neoplasm
|
31 |
216 |
C0152013 |
Adenocarcinoma of lung (disorder)
|
disease |
Neoplasms
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
Neoplasm; Abnormality of the respiratory system
|
37 |
211 |
C0278701 |
Gastric Adenocarcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
|
30 |
188 |
C1168401 |
Squamous cell carcinoma of the head and neck
|
disease |
Neoplasms
|
Neoplastic Process
|
disease of cellular proliferation
|
|
27 |
179 |
C0151779 |
Cutaneous Melanoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
Abnormality of the integument; Neoplasm
|
38 |
153 |
C0028326 |
Noonan Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity; syndrome; disease of mental health
|
|
12 |
153 |
C0153574 |
Malignant Uterine Corpus Neoplasm
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
|
26 |
152 |
C0279680 |
Transitional cell carcinoma of bladder
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
Abnormality of the genitourinary system; Neoplasm
|
26 |
141 |
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 |
C0025202 |
melanoma
|
disease |
Neoplasms
|
Neoplastic Process
|
disease of cellular proliferation
|
Neoplasm
|
25 |
129 |
C0238198 |
Gastrointestinal Stromal Tumors
|
group |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
Abnormality of the digestive system; Neoplasm
|
7 |
124 |
C0006118 |
Brain Neoplasms
|
group |
Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
Abnormality of the nervous system; Neoplasm
|
13 |
118 |
C2243051 |
Large head (disorder)
|
phenotype |
|
Finding
|
|
Abnormality of head or neck; Abnormality of the skeletal system
|
64 |
116 |
C0017636 |
Glioblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
|
22 |
115 |