Source: ALL
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: C1834821
Disease: METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS
METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 3 0.630 None 1.000 3 3 1990 2007
CUI: C0332885
Disease: Congenital stenosis
Congenital stenosis 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1 0.010 None 1.000 1 2007 2007
CUI: C0877313
Disease: Neonatal neuroblastoma
Neonatal neuroblastoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1 0.010 None 1.000 1 2019 2019
CUI: C1707549
Disease: Cutaneous Lymphomatoid Granulomatosis
Cutaneous Lymphomatoid Granulomatosis 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1 0.010 None 1.000 1 2018 2018
CUI: C1855205
Disease: Susceptibility to chickenpox
Susceptibility to chickenpox 		phenotype Finding 1 0.100 None 0
CUI: C2017869
Disease: sparse facial hair
sparse facial hair 		phenotype Finding 1 0.100 None 0
CUI: C4551965
Disease: ANAUXETIC DYSPLASIA 1
ANAUXETIC DYSPLASIA 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 1 3 0.400 None 0 3
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 2 18 0.450 None 1.000 26 18 1994 2017
CUI: C4479357
Disease: ANAUXETIC DYSPLASIA 2
ANAUXETIC DYSPLASIA 2 		disease Disease or Syndrome 2 5 0.010 None 1.000 1 2019 2019
CUI: C1855196
Disease: Flaring of lower rib cage
Flaring of lower rib cage 		phenotype Finding 2 0.100 None 0
CUI: C4476965
Disease: Absent pubertal growth spurt
Absent pubertal growth spurt 		phenotype Finding 2 0.100 None 0
CUI: C1846798
Disease: Cervical subluxation
Cervical subluxation 		phenotype Finding 3 0.100 None 0
CUI: C1855171
Disease: Metaphyseal cupping of metacarpals
Metaphyseal cupping of metacarpals 		phenotype Finding 3 0.100 None 0
CUI: C1866675
Disease: Biconvex vertebral bodies
Biconvex vertebral bodies 		phenotype Finding 3 0.100 None 0
CUI: C0852866
Disease: Cervical cord compression
Cervical cord compression 		phenotype Nervous System Diseases; Wounds and Injuries Finding 4 0.100 None 0
CUI: C4024745
Disease: Aplasia/Hypoplasia affecting the eye
Aplasia/Hypoplasia affecting the eye 		phenotype Finding 4 0.100 None 0
CUI: C4025625
Disease: Impaired lymphocyte transformation with phytohemagglutinin
Impaired lymphocyte transformation with phytohemagglutinin 		phenotype Finding 4 0.100 None 0
CUI: C1832598
Disease: Narrow vertebral interpedicular distance
Narrow vertebral interpedicular distance 		phenotype Finding 6 0.100 None 0
CUI: C0949116
Disease: Congenital hypoplastic anemia
Congenital hypoplastic anemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 8 0.100 None 0
CUI: C4020966
Disease: Abnormally ossified vertebrae
Abnormally ossified vertebrae 		disease Anatomical Abnormality 8 0.100 None 0
CUI: C4024726
Disease: Mucopolysacchariduria
Mucopolysacchariduria 		phenotype Finding 8 2 0.100 None 0
CUI: C0268146
Disease: Glucose-6-phosphate transport defect
Glucose-6-phosphate transport defect 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 9 63 0.300 strong 1.000 1 1990 1990
CUI: C1854718
Disease: J-shaped sella turcica
J-shaped sella turcica 		phenotype Finding 10 1 0.100 None 0
CUI: C2748652
Disease: Large face
Large face 		phenotype Finding 11 0.100 None 0
CUI: C0265289
Disease: Metaphyseal chondrodysplasia Schmid type
Metaphyseal chondrodysplasia Schmid type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 12 16 0.010 None 1.000 1 2014 2014