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: 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: C1849350
Disease: Cleft lower alveolar ridge
Cleft lower alveolar ridge 		phenotype Finding 1 0.100 None 0
CUI: C3806533
Disease: Tibial deviation of toes
Tibial deviation of toes 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4025054
Disease: Agenesis of mandibular central incisor
Agenesis of mandibular central incisor 		disease Anatomical Abnormality 1 0.100 None 0
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 2 1 0.720 None 1.000 6 1 1998 2018
CUI: C4024628
Disease: Aplasia of the epiglottis
Aplasia of the epiglottis 		disease Congenital Abnormality 2 0.100 None 0
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 3 2 0.300 strong 1.000 1 1998 1998
CUI: C1837822
Disease: Burn-Mckeown syndrome
Burn-Mckeown syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases Disease or Syndrome 3 6 0.010 None 1.000 1 2015 2015
CUI: C1849357
Disease: Abnormality of the aryepiglottic fold
Abnormality of the aryepiglottic fold 		disease Anatomical Abnormality 3 1 0.100 None 0
CUI: C0575803
Disease: Radial deviation of hand
Radial deviation of hand 		phenotype Musculoskeletal Diseases Finding 4 2 0.100 None 0
CUI: C1332140
Disease: Acrofacial Dysostosis
Acrofacial Dysostosis 		disease Musculoskeletal Diseases Disease or Syndrome 7 0.010 None 1.000 1 2015 2015
CUI: C2609289
Disease: Diabetic arteriosclerosis
Diabetic arteriosclerosis 		disease Disease or Syndrome 9 0.010 None 1.000 1 2018 2018
CUI: C0262659
Disease: Vagina Carcinoma
Vagina Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 11 0.010 None 1.000 1 2009 2009
CUI: C0020636
Disease: underdevelopment
underdevelopment 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 22 0.010 None 1.000 1 2014 2014
CUI: C0549306
Disease: Mesomelia
Mesomelia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Congenital Abnormality 27 4 0.100 None 0
CUI: C1865572
Disease: Proximal placement of thumb
Proximal placement of thumb 		phenotype Finding 32 3 0.100 None 0
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 37 5 0.100 None 0
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 39 3 0.410 strong 1.000 2 1998 2015
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger 		phenotype Finding 41 1 0.100 None 0
CUI: C0431890
Disease: Hypoplasia of thumb
Hypoplasia of thumb 		disease Musculoskeletal Diseases Congenital Abnormality 49 3 0.100 None 0
CUI: C1839546
Disease: Microretrognathia
Microretrognathia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Finding 53 6 0.100 None 0
CUI: C0206762
Disease: Limb Deformities, Congenital
Limb Deformities, Congenital 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 59 4 0.010 None 1.000 1 2017 2017
CUI: C0018564
Disease: Hand deformities
Hand deformities 		group Musculoskeletal Diseases Anatomical Abnormality 60 2 0.300 strong 1.000 1 1998 1998
CUI: C4021776
Disease: Abnormality of the voice
Abnormality of the voice 		disease Finding 64 0.100 None 0
CUI: C1837084
Disease: Short metacarpal
Short metacarpal 		phenotype Finding 66 7 0.100 None 0