C0432072 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
|
|
335 |
611 |
C0000772 |
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
|
|
237 |
350 |
C0027672 |
Neoplastic Syndromes, Hereditary
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
Neoplastic Process
|
|
|
67 |
6385 |
C0009402 |
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
|
43 |
100 |
C0376532 |
Epilepsy, Rolandic
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
31 |
75 |
C0278701 |
Gastric Adenocarcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
|
30 |
188 |
C0006142 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
|
28 |
802 |
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 |
C0339527 |
Leber Congenital Amaurosis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
28 |
90 |
C4072872 |
obsolete Rod-cone dystrophy
|
disease |
|
Disease or Syndrome
|
|
|
28 |
41 |
C0751651 |
Mitochondrial Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
27 |
70 |
C1168401 |
Squamous cell carcinoma of the head and neck
|
disease |
Neoplasms
|
Neoplastic Process
|
disease of cellular proliferation
|
|
27 |
179 |
C4551906 |
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
genetic disease; syndrome
|
|
27 |
67 |
C0016842 |
Congenital pectus excavatum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
|
|
26 |
35 |
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 |
C0424605 |
Developmental delay (disorder)
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
|
|
26 |
31 |
C0007959 |
Charcot-Marie-Tooth Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
24 |
52 |
C0949658 |
Cardiomyopathy, Hypertrophic, Familial
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
24 |
332 |
C4054546 |
Melanocortin 4 Receptor Deficiency
|
phenotype |
|
Finding
|
|
|
24 |
28 |
C0752166 |
Bardet-Biedl Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
23 |
157 |
C0017636 |
Glioblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
|
22 |
115 |
C0162671 |
MELAS Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
21 |
46 |
C4707243 |
Familial thoracic aortic aneurysm and aortic dissection
|
disease |
|
Disease or Syndrome
|
disease of anatomical entity
|
|
21 |
442 |
C0036346 |
Schizophrenia, Childhood
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
|
|
20 |
18 |
C0268237 |
Cytochrome-c Oxidase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome; Congenital Abnormality
|
genetic disease; disease of metabolism
|
|
19 |
36 |