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: C1300267
Disease: Brachydactyly syndrome type B
Brachydactyly syndrome type B 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 1 0.300 None 1.000 2 2000 2000
CUI: C4049798
Disease: Total Respiratory System Resistance
Total Respiratory System Resistance 		phenotype Diagnostic Procedure 1 0.300 strong 0
CUI: C3151609
Disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH APLASIA/HYPOPLASIA OF PHALANGES AND METACARPALS/METATARSALS
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH APLASIA/HYPOPLASIA OF PHALANGES AND METACARPALS/METATARSALS 		disease Disease or Syndrome 2 1 0.300 None 1.000 4 1 2000 2011
CUI: C3151610
Disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH BRACHY-SYN-POLYDACTYLY
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH BRACHY-SYN-POLYDACTYLY 		disease Disease or Syndrome 2 1 0.300 None 1.000 4 1 2000 2011
CUI: C1969652
Disease: BRACHYDACTYLY, TYPE B2 (disorder)
BRACHYDACTYLY, TYPE B2 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 2 0.020 None 1.000 2 2014 2017
CUI: C0432152
Disease: Thoracic hemivertebra
Thoracic hemivertebra 		disease Congenital Abnormality 2 1 0.100 None 0
CUI: C1861376
Disease: 2nd-5th toe middle phalangeal hypoplasia
2nd-5th toe middle phalangeal hypoplasia 		phenotype Finding 2 0.100 None 0
CUI: C4551475
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 3 11 0.300 strong 1.000 1 2009 2009
CUI: C1970816
Disease: Hypoplastic sacrum
Hypoplastic sacrum 		phenotype Finding 3 2 0.100 None 0
CUI: C4022715
Disease: Hypoplastic female external genitalia
Hypoplastic female external genitalia 		disease Anatomical Abnormality 3 1 0.100 None 0
CUI: C1849334
Disease: Robinow syndrome, autosomal recessive
Robinow syndrome, autosomal recessive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 4 8 1.000 strong 1.000 16 8 2000 2020
CUI: C0266121
Disease: Congenital absence of uvula
Congenital absence of uvula 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 4 1 0.100 None 0
CUI: C1849343
Disease: Duplication of the distal phalanx of hand
Duplication of the distal phalanx of hand 		phenotype Finding 4 0.100 None 0
CUI: C4021326
Disease: Aplasia/Hypoplasia of the distal phalanges of the toes
Aplasia/Hypoplasia of the distal phalanges of the toes 		phenotype Finding 4 0.100 None 0
CUI: C4021772
Disease: Bifid distal phalanx of toe
Bifid distal phalanx of toe 		disease Anatomical Abnormality 4 0.100 None 0
CUI: C4551476
Disease: Robinow Syndrome, Autosomal Dominant
Robinow Syndrome, Autosomal Dominant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 4 0.300 strong 0
CUI: C1862112
Disease: BRACHYDACTYLY, TYPE B1
BRACHYDACTYLY, TYPE B1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 6 8 0.700 strong 0.941 17 6 2000 2019
CUI: C1861336
Disease: Aplasia/Hypoplasia of the distal phalanges of the hand
Aplasia/Hypoplasia of the distal phalanges of the hand 		phenotype Finding 6 0.100 None 0
CUI: C1836192
Disease: Aplasia/Hypoplasia involving the metacarpal bones
Aplasia/Hypoplasia involving the metacarpal bones 		phenotype Finding 7 0.100 None 0
CUI: C1849540
Disease: Delayed eruption of permanent teeth
Delayed eruption of permanent teeth 		phenotype Finding 10 0.100 None 0
CUI: C1850629
Disease: Exaggerated cupid's bow
Exaggerated cupid's bow 		phenotype Finding 11 6 0.100 None 0
CUI: C1865038
Disease: Broad toe
Broad toe 		phenotype Finding 11 2 0.100 None 0
CUI: C4020952
Disease: Fingernail dysplasia
Fingernail dysplasia 		disease Disease or Syndrome 11 0.100 None 0
CUI: C4025753
Disease: Abnormal tricuspid valve morphology
Abnormal tricuspid valve morphology 		disease Anatomical Abnormality 11 1 0.100 None 0
CUI: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 12 14 0.010 None 1.000 1 2000 2000