C0950123 |
Genetic Diseases, Inborn
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
genetic disease
|
|
505 |
827 |
C4020875 |
Mental and motor retardation
|
phenotype |
|
Pathologic Function
|
|
Abnormality of the nervous system
|
110 |
151 |
C1843367 |
Poor school performance
|
phenotype |
|
Finding
|
|
Abnormality of the nervous system
|
73 |
116 |
C4021085 |
Abnormality of brain morphology
|
phenotype |
|
Anatomical Abnormality
|
|
Abnormality of the nervous system
|
68 |
79 |
C0036572 |
Seizures
|
phenotype |
Nervous System Diseases; Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
disease of anatomical entity
|
Abnormality of the nervous system
|
65 |
103 |
C0027672 |
Neoplastic Syndromes, Hereditary
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
Neoplastic Process
|
|
|
58 |
4864 |
C0854723 |
Retinal Dystrophies
|
group |
Eye Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the eye
|
58 |
162 |
C0035334 |
Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the eye
|
55 |
201 |
C0424688 |
Small head
|
phenotype |
|
Finding
|
|
Abnormality of head or neck; Abnormality of the nervous system; Abnormality of the skeletal system
|
37 |
57 |
C0151779 |
Cutaneous Melanoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
disease of cellular proliferation
|
|
36 |
153 |
C0152013 |
Adenocarcinoma of lung (disorder)
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
Abnormality of the respiratory system; Neoplasm
|
36 |
209 |
C1458155 |
Mammary Neoplasms
|
group |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
Abnormality of the breast; Neoplasm
|
33 |
279 |
C0009404 |
Colorectal Neoplasms
|
group |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
Abnormality of the digestive system; Neoplasm
|
32 |
214 |
C0278701 |
Gastric Adenocarcinoma
|
disease |
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
|
31 |
187 |
C0699790 |
Colon Carcinoma
|
disease |
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
|
28 |
54 |
C1168401 |
Squamous cell carcinoma of the head and neck
|
disease |
Neoplasms
|
Neoplastic Process
|
disease of cellular proliferation
|
|
28 |
173 |
C0008780 |
Ciliary Motility Disorders
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
genetic disease
|
Abnormality of the respiratory system
|
27 |
190 |
C0007193 |
Cardiomyopathy, Dilated
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the cardiovascular system
|
26 |
340 |
C0022521 |
Kartagener Syndrome
|
disease |
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
genetic disease
|
|
26 |
62 |
C0023467 |
Leukemia, Myelocytic, Acute
|
disease |
Neoplasms
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
Abnormality of blood and blood-forming tissues; Abnormality of the immune system; Neoplasm
|
26 |
125 |
C0279680 |
Transitional cell carcinoma of bladder
|
disease |
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
Abnormality of the genitourinary system; Neoplasm
|
26 |
142 |
C0153574 |
Malignant Uterine Corpus Neoplasm
|
disease |
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
|
25 |
149 |
C0349588 |
Short stature
|
phenotype |
|
Finding
|
|
Growth abnormality
|
25 |
36 |
C0454644 |
Delayed speech and language development
|
phenotype |
|
Finding
|
|
Abnormality of the nervous system
|
24 |
39 |
C0878544 |
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the cardiovascular system
|
24 |
54 |