Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C4020855
Disease: Respiratory function loss
Respiratory function loss
phenotype Pathologic Function 169 0.100 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency
phenotype Respiratory Tract Diseases Pathologic Function 181 5 0.100 0
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung
disease Congenital Abnormality 124 1 0.100 0
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios
phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 63 5 0.100 0
CUI: C0266619
Disease: Potter's facies
Potter's facies
disease Congenital Abnormality 10 0.100 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.300 strong 0
CUI: C3550658
Disease: Maternal oligohydramnios
Maternal oligohydramnios
phenotype Finding 57 0.100 0
CUI: C0424688
Disease: Small head
Small head
phenotype Finding 569 57 0.100 0
Widely patent fontanelles and sutures
phenotype Finding 14 0.100 0
CUI: C0233612
Disease: Waxy flexibility
Waxy flexibility
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 15 0.300 1 1977 1977
CUI: C0007370
Disease: Catalepsy
Catalepsy
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 23 0.300 1 1977 1977
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Musculoskeletal Diseases Congenital Abnormality 276 31 0.010 1.000 1 1982 1982
CUI: C0597966
Disease: Juxtaglomerular cell hyperplasia
Juxtaglomerular cell hyperplasia
disease Congenital Abnormality 1 0.010 1.000 1 1982 1982
CUI: C0020621
Disease: Hypokalemia
Hypokalemia
phenotype Nutritional and Metabolic Diseases Finding 39 0.300 1 1983 1983
CUI: C0002063
Disease: Alkalosis
Alkalosis
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 17 0.300 1 1983 1983
CUI: C0002871
Disease: Anemia
Anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 489 44 0.300 1 1986 1986
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
phenotype Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms Finding 131 29 0.300 2 1991 1991
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 306 23 0.010 1.000 1 1991 1991
CUI: C0027720
Disease: Nephrosis
Nephrosis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 49 0.300 1 1991 1991
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
disease Neoplasms Neoplastic Process 234 20 0.010 1.000 1 1991 1991
CUI: C0009777
Disease: Conn Adenoma
Conn Adenoma
disease Endocrine System Diseases; Neoplasms Disease or Syndrome 4 0.010 < 0.001 1 1992 1992
CUI: C1512409
Disease: Hepatocarcinogenesis
Hepatocarcinogenesis
disease Neoplastic Process 526 11 0.010 1.000 1 1994 1994
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
disease Neoplasms Neoplastic Process 279 125 0.020 1.000 2 1992 1995
Glucocorticoid-remediable aldosteronism
disease Endocrine System Diseases Disease or Syndrome 7 0.020 1.000 2 1994 1995
CUI: C0001624
Disease: Adrenal Gland Neoplasms
Adrenal Gland Neoplasms
group Endocrine System Diseases; Neoplasms Neoplastic Process 86 5 0.010 1.000 1 1995 1995