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: C4014780
Disease: OROFACIODIGITAL SYNDROME XIV
OROFACIODIGITAL SYNDROME XIV 		disease Disease or Syndrome 1 5 0.700 None 1.000 3 5 2014 2016
CUI: C4024628
Disease: Aplasia of the epiglottis
Aplasia of the epiglottis 		disease Congenital Abnormality 2 0.100 None 0
CUI: C0026363
Disease: Mohr Syndrome
Mohr Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 6 2 0.300 None 1.000 1 2014 2014
CUI: C0431564
Disease: Lobulated tongue
Lobulated tongue 		disease Congenital Abnormality 14 0.100 None 0
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 16 108 0.300 None 1.000 3 2014 2016
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 17 108 0.510 None 1.000 3 2014 2016
CUI: C0431565
Disease: Hamartoma of tongue
Hamartoma of tongue 		phenotype Neoplasms; Stomatognathic Diseases Finding 18 1 0.100 None 0
CUI: C0029294
Disease: Orofaciodigital Syndromes
Orofaciodigital Syndromes 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 19 1 0.320 None 1.000 2 2014 2016
CUI: C0035333
Disease: Retinitis
Retinitis 		disease Eye Diseases Disease or Syndrome 20 1 0.100 None 0
CUI: C0027443
Disease: Natal Teeth
Natal Teeth 		phenotype Finding 22 2 0.100 None 0
CUI: C0266111
Disease: Bifid tongue
Bifid tongue 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 24 1 0.100 None 0
CUI: C1709353
Disease: Osteofibrous Dysplasia
Osteofibrous Dysplasia 		disease Musculoskeletal Diseases Disease or Syndrome 25 0.020 None 1.000 2 2015 2018
CUI: C0014588
Disease: Epispadias
Epispadias 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 30 0.100 None 0
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 30 14 0.100 None 0
CUI: C0040457
Disease: Tooth, Supernumerary
Tooth, Supernumerary 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Finding 31 2 0.100 None 0
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 33 9 0.100 None 0
CUI: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus 		phenotype Finding 34 5 0.100 None 0
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		phenotype Finding 35 7 0.100 None 0
CUI: C2749675
Disease: Cortical gyral simplification
Cortical gyral simplification 		phenotype Finding 39 2 0.100 None 0
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 45 29 0.100 None 0
CUI: C0345354
Disease: Radial polydactyly
Radial polydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 51 3 0.100 None 0
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 52 7 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: C0240896
Disease: Fundus coloboma
Fundus coloboma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 57 2 0.100 None 0
CUI: C3540764
Disease: Coloboma of the Retina
Coloboma of the Retina 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 58 3 0.100 None 0