Source: CURATED ×
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: C1849348
Disease: Richieri Costa Pereira syndrome
Richieri Costa Pereira syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 1 1 0.720 None 1.000 5 1 1998 2018
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 2 3 0.410 strong 1.000 1 1998 2015
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 5 35 0.400 strong 1.000 1 1998 1998
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 25 13 0.400 strong 1.000 1 1998 1998
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 10 0.400 strong 1.000 1 1998 1998
CUI: C0685786
Disease: Cleft mandible
Cleft mandible 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding 1 0.400 strong 1.000 1 1998 1998
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 10 292 0.400 strong 1.000 1 1998 1998
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 81 109 0.300 strong 1.000 1 2018 2018
CUI: C0158489
Disease: Acquired clubfoot
Acquired clubfoot 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Acquired Abnormality 1 0.300 strong 1.000 1 1998 1998
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases Congenital Abnormality 41 11 0.300 strong 1.000 1 1998 1998
CUI: C0018564
Disease: Hand deformities
Hand deformities 		group Musculoskeletal Diseases Anatomical Abnormality 3 2 0.300 strong 1.000 1 1998 1998
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 447 6 0.300 strong 1.000 1 2013 2013