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: C0265281
Disease: Metatropic dwarfism
Metatropic dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1 19 0.800 None 1.000 15 19 2009 2020
Spondylometaphyseal dysplasia, Kozlowski type
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 1 11 0.760 None 0.857 7 11 2009 2017
CUI: C0432227
Disease: Brachyolmia Type 3
Brachyolmia Type 3
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 1 3 0.760 None 1.000 7 3 2008 2014
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)
disease Nervous System Diseases Disease or Syndrome 1 6 0.700 None 1.000 3 6 2010 2012
CUI: C1868616
Disease: Parastremmatic dwarfism
Parastremmatic dwarfism
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Congenital Abnormality 1 2 0.730 None 1.000 3 2 2010 2012
Charcot-Marie-Tooth disease, Type 2C
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 0.030 None 1.000 3 2010 2020
Digital Arthropathy-Brachydactyly, Familial
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 4 0.710 None 1.000 2 4 2011 2019
CUI: C0234244
Disease: Tissue Pain
Tissue Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1 0.010 None 1.000 1 2019 2019
Osteoarthropathy of fingers familial
disease Musculoskeletal Diseases Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C0562557
Disease: Sexually disinhibited behavior
Sexually disinhibited behavior
phenotype Finding 1 0.300 limited 1.000 1 2012 2012
SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 5 0.710 None 1.000 1 5 2010 2010
CUI: C3711162
Disease: Metatropic Dysplasia Type 1
Metatropic Dysplasia Type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2010 2010
CUI: C1847408
Disease: Brachytelomesophalangy
Brachytelomesophalangy
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 1 0.100 None 0
CUI: C1866703
Disease: Severe carpal ossification delay
Severe carpal ossification delay
phenotype Finding 1 0.100 None 0
Childhood-onset short-trunk short stature
disease Congenital Abnormality 1 0.100 None 0
SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1
phenotype Finding 1 1 0.600 moderate 0 1
CUI: C3277114
Disease: Relatively short spine
Relatively short spine
disease Congenital Abnormality 1 0.100 None 0
CUI: C3277116
Disease: Long coccyx
Long coccyx
phenotype Finding 1 0.100 None 0
CUI: C3277119
Disease: Halberd-shaped pelvis
Halberd-shaped pelvis
phenotype Finding 1 0.100 None 0
Hyperplasia of the femoral trochanters
phenotype Finding 1 0.100 None 0
CUI: C3277123
Disease: Dumbbell-shaped metaphyses
Dumbbell-shaped metaphyses
phenotype Finding 1 0.100 None 0
Absent primary metaphyseal spongiosa
phenotype Finding 1 0.100 None 0
Abnormal metaphyseal vascular invasion
phenotype Finding 1 0.100 None 0
Shortening of all middle phalanges of the toes
phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C4024611
Disease: Nonprogressive muscular atrophy
Nonprogressive muscular atrophy
disease Disease or Syndrome 1 0.100 None 0