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: C4021027
Disease: Abnormality of the medullary cavity of the long bones
Abnormality of the medullary cavity of the long bones 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C4025133
Disease: Cortical thickening of long bone diaphyses
Cortical thickening of long bone diaphyses 		disease Anatomical Abnormality 4 0.100 None 0
CUI: C0003076
Disease: Aniridia
Aniridia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 83 29 0.100 None 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 337 40 0.100 None 0
CUI: C0152415
Disease: Ankyloglossia
Ankyloglossia 		disease Stomatognathic Diseases Congenital Abnormality 19 2 0.100 None 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 367 10 0.100 None 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 325 43 0.100 None 0
CUI: C0432073
Disease: Defect of skull ossification
Defect of skull ossification 		group Congenital Abnormality 23 1 0.100 None 0
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		disease Male Urogenital Diseases Congenital Abnormality 217 11 0.100 None 0
CUI: C1455734
Disease: Congenital hypoparathyroidism
Congenital hypoparathyroidism 		disease Endocrine System Diseases Congenital Abnormality 5 1 0.100 None 0
CUI: C1843496
Disease: Bilateral microphthalmos
Bilateral microphthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 35 11 0.100 None 0
CUI: C4316787
Disease: Kenny-Caffey syndrome, type 2
Kenny-Caffey syndrome, type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 2 2 0.710 strong 1.000 3 2 2013 2014
CUI: C0022575
Disease: Keratoconjunctivitis Sicca
Keratoconjunctivitis Sicca 		disease Eye Diseases Disease or Syndrome 90 3 0.020 None 1.000 2 2013 2014
CUI: C0265291
Disease: Kenny-Caffey syndrome
Kenny-Caffey syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 6 0.510 strong 1.000 2 2013 2019
CUI: C1855648
Disease: KENNY-CAFFEY SYNDROME, TYPE 1
KENNY-CAFFEY SYNDROME, TYPE 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 2 0.020 None 1.000 2 2013 2014
CUI: C1865639
Disease: Gracile bone dysplasia
Gracile bone dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 5 0.720 strong 1.000 2 5 2013 2019
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		disease Endocrine System Diseases Disease or Syndrome 92 15 0.110 None 1.000 1 2013 2013
CUI: C0002871
Disease: Anemia
Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.100 None 0
CUI: C0003962
Disease: Ascites
Ascites 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 198 7 0.100 None 0
CUI: C0011334
Disease: Dental caries
Dental caries 		disease Stomatognathic Diseases Disease or Syndrome 330 126 0.100 None 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.100 None 0
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1037 21 0.100 None 0
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		disease Nervous System Diseases Disease or Syndrome 473 37 0.100 None 0
CUI: C0020490
Disease: Hyperopia
Hyperopia 		disease Eye Diseases Disease or Syndrome 142 29 0.100 None 0