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: C0033835
Disease: Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 12 8 1.000 0.947 35 8 1992 2017
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 23 9 0.900 0.938 92 9 1991 2018
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome
disease Musculoskeletal Diseases Disease or Syndrome 16 7 0.800 0.951 58 5 1986 2018
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 2 3 0.800 0.944 26 3 1992 2017
CUI: C0016065
Disease: Polyostotic fibrous dysplasia
Polyostotic fibrous dysplasia
disease Musculoskeletal Diseases Congenital Abnormality 7 3 0.750 1.000 10 2 1991 2018
CUI: C0033806
Disease: Pseudohypoparathyroidism
Pseudohypoparathyroidism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 24 11 0.700 0.933 90 11 1990 2017
CUI: C1864100
Disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB
PSEUDOHYPOPARATHYROIDISM, TYPE IB
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 13 2 0.700 0.952 47 2 1998 2017
Acth-Independent Macronodular Adrenal Hyperplasia
disease Endocrine System Diseases Disease or Syndrome 19 3 0.700 12 2 1986 2014
CUI: C2932716
Disease: Pseudohypoparathyroidism Type 1C
Pseudohypoparathyroidism Type 1C
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 1 5 0.630 1.000 6 5 2002 2014
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 0.620 strong 1.000 3 2002 2005
CUI: C2932715
Disease: Pseudohypoparathyroidism Type 1B
Pseudohypoparathyroidism Type 1B
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 8 0.570 1.000 7 2003 2015
CUI: C0028754
Disease: Obesity
Obesity
disease Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 1960 811 0.470 0.857 7 1 2003 2016
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty
disease Endocrine System Diseases Disease or Syndrome 67 6 0.460 0.800 8 1 1991 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 1309 447 0.460 1.000 7 1 1998 2006
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 203 6 0.450 1.000 7 1 2004 2015
CUI: C0032000
Disease: Pituitary Adenoma
Pituitary Adenoma
disease Endocrine System Diseases; Neoplasms; Nervous System Diseases Neoplastic Process 293 15 0.440 1.000 4 1 2002 2011
CUI: C0001206
Disease: Acromegaly
Acromegaly
disease Endocrine System Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 75 9 0.430 1.000 3 1991 2001
Albright's hereditary osteodystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 14 0.400 0.926 57 1990 2018
CUI: C0206724
Disease: Sex Cord-Stromal Tumor
Sex Cord-Stromal Tumor
disease Neoplasms Neoplastic Process 13 2 0.400 11 2 1986 2014
POLYOSTOTIC FIBROUS DYSPLASIA, SOMATIC, MOSAIC
phenotype Finding 1 3 0.400 5 3 1996 2004
PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS
phenotype Finding 1 3 0.400 3 3 1994 2004
CUI: C0029396
Disease: Heterotopic Ossification
Heterotopic Ossification
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 5 0.400 1 2008 2008
CUI: C0917816
Disease: Mental deficiency
Mental deficiency
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 1031 0.400 1 2002 2002
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 1437 87 0.400 0
CUI: C0014130
Disease: Endocrine System Diseases
Endocrine System Diseases
group Endocrine System Diseases Disease or Syndrome 51 3 0.370 0.857 9 1991 2015