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: C3151781
Disease: CK syndrome
CK syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 7 0.720 limited 1.000 6 7 2000 2016
CUI: C0263627
Disease: Calcinosis universalis
Calcinosis universalis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 2 0.200 None 1.000 3 1973 2005
CUI: C0346054
Disease: Verruciform xanthoma of skin
Verruciform xanthoma of skin 		disease Nutritional and Metabolic Diseases Neoplastic Process 2 0.010 None 1.000 1 2005 2005
CUI: C1840006
Disease: Mild intrauterine growth retardation
Mild intrauterine growth retardation 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Finding 3 1 0.100 None 0
CUI: C4551464
Disease: Aplasia/hypoplasia of the extremities
Aplasia/hypoplasia of the extremities 		disease Congenital Abnormality 4 1 0.100 None 0
CUI: C0265267
Disease: Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 6 14 0.780 None 0.909 11 13 2000 2019
CUI: C1844853
Disease: Brachytelephalangic Chondrodysplasia Punctata
Brachytelephalangic Chondrodysplasia Punctata 		disease Disease or Syndrome 7 11 0.200 None 1.000 3 1973 2005
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
Chondrodysplasia punctata, X-linked dominant type 		disease Musculoskeletal Diseases Disease or Syndrome 9 39 0.210 None 1.000 4 1973 2019
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder) 		disease Neoplasms Disease or Syndrome 14 17 0.010 None 1.000 1 2019 2019
CUI: C3536734
Disease: Hypoplastic pelvis
Hypoplastic pelvis 		disease Anatomical Abnormality 15 2 0.100 None 0
CUI: C0008445
Disease: Chondrodysplasia Punctata
Chondrodysplasia Punctata 		disease Musculoskeletal Diseases Congenital Abnormality 16 1 0.200 None 1.000 3 1973 2005
CUI: C0004093
Disease: Asthenia
Asthenia 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 16 3 0.100 None 0
CUI: C3274516
Disease: Single Ventricle Defect
Single Ventricle Defect 		disease Congenital Abnormality 20 5 0.100 None 0
CUI: C0152424
Disease: Common ventricle
Common ventricle 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 22 5 0.100 None 0
CUI: C0595939
Disease: Stillbirth
Stillbirth 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding 23 2 0.100 None 0
CUI: C3150613
Disease: Long toe
Long toe 		phenotype Finding 24 8 0.100 None 0
CUI: C1859126
Disease: Stippled epiphyses
Stippled epiphyses 		phenotype Finding 28 0.100 None 0
CUI: C0030436
Disease: Parakeratosis
Parakeratosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 31 0.100 None 0
CUI: C0079583
Disease: Ichthyosiform Erythroderma, Congenital
Ichthyosiform Erythroderma, Congenital 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 31 11 0.100 None 0
CUI: C1850573
Disease: Slender build
Slender build 		phenotype Pathological Conditions, Signs and Symptoms Finding 31 2 0.100 None 0
CUI: C1858091
Disease: Long fingers
Long fingers 		phenotype Finding 32 6 0.100 None 0
CUI: C4024780
Disease: Almond-shaped palpebral fissure
Almond-shaped palpebral fissure 		phenotype Finding 40 1 0.100 None 0
CUI: C0021171
Disease: Bloch Sulzberger syndrome
Bloch Sulzberger syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 41 10 0.200 None 1.000 2 1999 2000
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology 		disease Anatomical Abnormality 41 0.100 None 0
CUI: C1839546
Disease: Microretrognathia
Microretrognathia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Finding 53 6 0.100 None 0