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: C0221360
Disease: Congenital absence of diaphragm
Congenital absence of diaphragm 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Respiratory Tract Diseases Congenital Abnormality 1 0.100 None 0
CUI: C1856017
Disease: Adrenal gland dysgenesis
Adrenal gland dysgenesis 		phenotype Finding 1 0.100 None 0
CUI: C1856027
Disease: Cleft in skull base
Cleft in skull base 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C1856029
Disease: Proximal tibial hypoplasia
Proximal tibial hypoplasia 		phenotype Finding 1 0.100 None 0
CUI: C3278123
Disease: Severe hydrocephalus
Severe hydrocephalus 		phenotype Nervous System Diseases Finding 2 1 0.100 None 0
CUI: C4310745
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55 		disease Disease or Syndrome 2 4 0.100 None 0 4
CUI: C1856016
Disease: HYDROLETHALUS SYNDROME 1
HYDROLETHALUS SYNDROME 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 3 1 0.700 None 1.000 3 1 2005 2016
CUI: C0426489
Disease: Gingival cleft
Gingival cleft 		phenotype Stomatognathic Diseases Finding 3 0.100 None 0
CUI: C0265766
Disease: Congenital atresia of trachea
Congenital atresia of trachea 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 4 0.100 None 0
CUI: C2931104
Disease: Hydrolethalus syndrome
Hydrolethalus syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 5 1 0.440 None 1.000 7 1 1990 2017
CUI: C1850327
Disease: Bifid uterus
Bifid uterus 		phenotype Finding 6 0.100 None 0
CUI: C1860164
Disease: Duplication of phalanx of hallux
Duplication of phalanx of hallux 		phenotype Finding 6 0.100 None 0
CUI: C0431527
Disease: Laryngeal hypoplasia
Laryngeal hypoplasia 		disease Congenital Abnormality 7 2 0.100 None 0
CUI: C0221363
Disease: Bifid nose
Bifid nose 		disease Respiratory Tract Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 9 0.100 None 0
CUI: C1837406
Disease: Hypoplasia involving bones of the upper limbs
Hypoplasia involving bones of the upper limbs 		phenotype Finding 9 3 0.100 None 0
CUI: C1856023
Disease: Abnormal vagina morphology
Abnormal vagina morphology 		phenotype Finding 12 0.100 None 0
CUI: C0392006
Disease: Unilateral cleft lip
Unilateral cleft lip 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 14 1 0.100 None 0
CUI: C4021655
Disease: Abnormality of the sense of smell
Abnormality of the sense of smell 		phenotype Finding 14 1 0.100 None 0
CUI: C1850256
Disease: Median cleft lip
Median cleft lip 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 15 2 0.100 None 0
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Finding 17 12 0.100 None 0
CUI: C0281842
Disease: Abnormality of the fallopian tube
Abnormality of the fallopian tube 		phenotype Anatomical Abnormality 22 0.100 None 0
CUI: C1853638
Disease: Broad neck
Broad neck 		phenotype Finding 22 10 0.100 None 0
CUI: C0595939
Disease: Stillbirth
Stillbirth 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding 23 2 0.100 None 0
CUI: C0155017
Disease: Color Blindness, Blue
Color Blindness, Blue 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 25 12 0.010 None 1.000 1 2017 2017
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases Disease or Syndrome 26 31 0.300 None 1.000 1 2016 2016