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.
Trichorhinophalangeal dysplasia type I
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 1 43 0.940 None 1.000 18 43 1999 2017
CUI: C1835238
Disease: Slow-growing nails
Slow-growing nails
phenotype Finding 1 1 0.100 None 0 1
Swelling of proximal interphalangeal joints
phenotype Finding 1 0.100 None 0
Ivory epiphyses of the distal phalanges of the hand
disease Anatomical Abnormality 1 0.100 None 0
Cone-shaped epiphyses of the proximal phalanges of the hand
disease Anatomical Abnormality 1 0.100 None 0
HYPERTRICHOSIS UNIVERSALIS CONGENITA, AMBRAS TYPE (disorder)
disease Skin and Connective Tissue Diseases Disease or Syndrome 2 0.010 None 1.000 1 2008 2008
CUI: C1835583
Disease: Multiple long-bone exostoses
Multiple long-bone exostoses
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases Finding 2 0.100 None 0
CUI: C1860825
Disease: Accelerated bone age after puberty
Accelerated bone age after puberty
phenotype Finding 2 0.100 None 0
CUI: C1860826
Disease: Coxa Magna
Coxa Magna
disease Musculoskeletal Diseases Disease or Syndrome 2 0.100 None 0
Cone-shaped epiphyses of the middle phalanges of the hand
phenotype Finding 2 0.100 None 0
CUI: C4023171
Disease: Chin with horizontal crease
Chin with horizontal crease
phenotype Finding 2 1 0.100 None 0
CUI: C1853482
Disease: Pear-shaped nose
Pear-shaped nose
phenotype Finding 3 2 0.100 None 0 2
Shortening of all phalanges of fingers
disease Anatomical Abnormality 3 1 0.100 None 0
CUI: C4025148
Disease: Hyperextensible thumb
Hyperextensible thumb
phenotype Finding 3 2 0.100 None 0 1
Tapering pointed ends of distal finger phalanges
disease Anatomical Abnormality 4 1 0.100 None 0 1
CUI: C0344511
Disease: Atresia of nasolacrimal duct
Atresia of nasolacrimal duct
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 5 1 0.100 None 0 1
CUI: C3151495
Disease: Long upper lip
Long upper lip
phenotype Finding 5 0.100 None 0
CUI: C0265255
Disease: Trichorhinophalangeal syndrome
Trichorhinophalangeal syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 6 1 0.100 None 1.000 15 1 1995 2019
Trichorhinophalangeal Syndrome, Type III
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 6 14 0.700 None 1.000 11 14 2001 2017
CUI: C3553517
Disease: CORNELIA DE LANGE SYNDROME 4
CORNELIA DE LANGE SYNDROME 4
disease Disease or Syndrome 6 11 0.010 None 1.000 1 2015 2015
CUI: C1844891
Disease: Ulnar deviation of the 2nd finger
Ulnar deviation of the 2nd finger
phenotype Finding 6 1 0.100 None 0 1
CUI: C0281328
Disease: Adult Subependymoma
Adult Subependymoma
disease Neoplasms Neoplastic Process 7 0.010 None 1.000 1 2017 2017
CUI: C1844709
Disease: Radial deviation of the 2nd finger
Radial deviation of the 2nd finger
phenotype Finding 7 1 0.100 None 0 1
CUI: C0521648
Disease: Neonatal respiratory failure
Neonatal respiratory failure
disease Respiratory Tract Diseases Disease or Syndrome 8 0.010 None 1.000 1 2002 2002
CUI: C0240182
Disease: Leukonychia
Leukonychia
phenotype Skin and Connective Tissue Diseases Finding 9 0.100 None 0