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: C1865186
Disease: Bell-shaped thorax
Bell-shaped thorax 		phenotype Finding 26 7 0.100 None 0
CUI: C1865841
Disease: Flared iliac wings
Flared iliac wings 		phenotype Finding 19 0.100 None 0
CUI: C1968592
Disease: Abnormal calcification of the carpal bones
Abnormal calcification of the carpal bones 		phenotype Finding 2 0.100 None 0
CUI: C3149494
Disease: KELOID FORMATION
KELOID FORMATION 		phenotype Finding 3 4 0.100 None 0 2
CUI: C3277226
Disease: Restrictive ventilatory defect
Restrictive ventilatory defect 		phenotype Finding 61 8 0.100 None 0
CUI: C4024176
Disease: Triangular shaped distal phalanges of the hand
Triangular shaped distal phalanges of the hand 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4024579
Disease: Osteolysis involving bones of the feet
Osteolysis involving bones of the feet 		disease Musculoskeletal Diseases Disease or Syndrome 2 1 0.100 None 0 1
CUI: C1858085
Disease: Malar flattening
Malar flattening 		disease Anatomical Abnormality 190 12 0.100 None 0
CUI: C1855185
Disease: Broad phalanx
Broad phalanx 		phenotype Finding 6 0.100 None 0
CUI: C1846154
Disease: Anterior rib cupping
Anterior rib cupping 		phenotype Finding 10 0.100 None 0
CUI: C1846439
Disease: Hypoplasia of the odontoid process
Hypoplasia of the odontoid process 		phenotype Musculoskeletal Diseases Finding 23 1 0.100 None 0
CUI: C1848109
Disease: Long fibula
Long fibula 		phenotype Finding 4 0.100 None 0
CUI: C1848446
Disease: C1-C2 subluxation
C1-C2 subluxation 		phenotype Finding 3 0.100 None 0
CUI: C1849937
Disease: Disproportionate short-limb short stature
Disproportionate short-limb short stature 		phenotype Finding 35 5 0.100 None 0
CUI: C1850135
Disease: Flared metaphysis
Flared metaphysis 		phenotype Finding 32 1 0.100 None 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		phenotype Finding 228 0.100 None 0
CUI: C1854114
Disease: Short nose
Short nose 		phenotype Finding 265 23 0.100 None 0
CUI: C1854912
Disease: Short long bone
Short long bone 		phenotype Finding 42 19 0.100 None 0
CUI: C4082169
Disease: Metatarsus Varus
Metatarsus Varus 		disease Musculoskeletal Diseases Anatomical Abnormality 41 3 0.100 None 0
CUI: C0039144
Disease: Syringomyelia
Syringomyelia 		disease Nervous System Diseases Disease or Syndrome 35 4 0.100 None 0
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		disease Eye Diseases Disease or Syndrome 225 12 0.100 None 0
CUI: C0025995
Disease: Micromelia
Micromelia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 104 1 0.100 None 0
CUI: C0037926
Disease: Compression of spinal cord
Compression of spinal cord 		disease Nervous System Diseases; Wounds and Injuries Disease or Syndrome 60 2 0.100 None 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.100 None 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 590 77 0.100 None 0