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: C0431766
Disease: Congenital malformation syndromes involving limbs
Congenital malformation syndromes involving limbs 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 1 0.200 None 1.000 2 2011 2011
CUI: C1406717
Disease: Sirenomelia syndrome
Sirenomelia syndrome 		disease Disease or Syndrome 1 0.200 None 1.000 2 2011 2011
CUI: C1859368
Disease: Camptodactyly of 2nd-5th fingers
Camptodactyly of 2nd-5th fingers 		phenotype Finding 1 0.100 None 0
CUI: C2675590
Disease: True anophthalmia
True anophthalmia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Finding 1 1 0.100 None 0 1
CUI: C2316159
Disease: Oral allergy syndrome
Oral allergy syndrome 		phenotype Immune System Diseases Disease or Syndrome 3 0.010 None 1.000 1 2018 2018
CUI: C1859768
Disease: Fused fourth and fifth metacarpals
Fused fourth and fifth metacarpals 		phenotype Finding 3 0.100 None 0
CUI: C4020770
Disease: Hypoplasia of the premaxilla
Hypoplasia of the premaxilla 		phenotype Finding 3 0.100 None 0
CUI: C0277873
Disease: Nasal Flaring
Nasal Flaring 		phenotype Sign or Symptom 5 0.100 None 0
CUI: C4020900
Disease: Abnormality of the upper limb
Abnormality of the upper limb 		phenotype Anatomical Abnormality 6 4 0.100 None 0 1
CUI: C4551517
Disease: Flared nostrils abnormality
Flared nostrils abnormality 		phenotype Finding 6 1 0.100 None 0
CUI: C0599973
Disease: Waardenburg Anophthalmia Syndrome
Waardenburg Anophthalmia Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 8 10 0.990 None 1.000 10 10 2011 2019
CUI: C4281601
Disease: Foot oligodactyly
Foot oligodactyly 		phenotype Anatomical Abnormality 9 1 0.100 None 0 1
CUI: C0332790
Disease: Osseous ankylosis
Osseous ankylosis 		disease Musculoskeletal Diseases Acquired Abnormality 10 1 0.100 None 0 1
CUI: C1096086
Disease: Deformity of lower limb
Deformity of lower limb 		disease Anatomical Abnormality 11 5 0.100 None 0 1
CUI: C0175703
Disease: Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia-Absent Radius Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 12 5 0.200 None 1.000 2 2011 2011
CUI: C0220708
Disease: VATER Association
VATER Association 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome 12 0.200 None 1.000 2 2011 2011
CUI: C0265553
Disease: Polysyndactyly
Polysyndactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 12 1 0.010 None < 0.001 1 1994 1994
CUI: C0266036
Disease: Macrodontia
Macrodontia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 12 1 0.100 None 0
CUI: C0022739
Disease: Klippel-Trenaunay-Weber Syndrome
Klippel-Trenaunay-Weber Syndrome 		disease Cardiovascular Diseases Disease or Syndrome 14 6 0.200 None 1.000 2 2011 2011
CUI: C1832119
Disease: Fibular hypoplasia
Fibular hypoplasia 		phenotype Finding 16 0.100 None 0
CUI: C0042485
Disease: Venous Insufficiency
Venous Insufficiency 		disease Cardiovascular Diseases Disease or Syndrome 17 1 0.100 None 0
CUI: C1850259
Disease: Short tibia
Short tibia 		phenotype Finding 17 0.100 None 0
CUI: C1844573
Disease: Large earlobe
Large earlobe 		phenotype Finding 18 2 0.100 None 0
CUI: C0265654
Disease: Tarsal Coalition
Tarsal Coalition 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 22 1 0.100 None 0
CUI: C1836193
Disease: Synostosis of carpal bones
Synostosis of carpal bones 		phenotype Finding 23 0.100 None 0