Source: CLINVAR ×
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: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		phenotype Finding 15 14 0.100 None 0 1
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		phenotype Finding 18 25 0.100 None 0 1
CUI: C1861869
Disease: Underdeveloped supraorbital ridges
Underdeveloped supraorbital ridges 		phenotype Finding 2 2 0.100 None 0 1
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		phenotype Anatomical Abnormality 6 11 0.100 None 0 3
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype Finding 88 106 0.100 None 0 1
CUI: C1859778
Disease: Postnatal growth retardation
Postnatal growth retardation 		phenotype Finding 7 11 0.100 None 0 3
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		disease Congenital Abnormality 21 23 0.100 None 0 1
CUI: C1857953
Disease: Deep plantar creases
Deep plantar creases 		phenotype Finding 5 6 0.100 None 0 1
CUI: C0455792
Disease: Small scrotum
Small scrotum 		phenotype Finding 1 1 0.100 None 0 1
CUI: C0521525
Disease: Short neck
Short neck 		phenotype Finding 26 29 0.100 None 0 1
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		phenotype Finding 7 8 0.100 None 0 1
CUI: C0558844
Disease: Knee reflex absent
Knee reflex absent 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 2 2 0.100 None 0 1
CUI: C0338597
Disease: Choroid plexus cyst
Choroid plexus cyst 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Finding 3 3 0.100 None 0 1
CUI: C0332563
Disease: Papule
Papule 		phenotype Pathological Conditions, Signs and Symptoms Finding 2 131 0.100 None 0 1
CUI: C1865916
Disease: Bilateral ptosis
Bilateral ptosis 		phenotype Eye Diseases Finding 11 14 0.100 None 0 2
CUI: C0206733
Disease: Strawberry nevus of skin
Strawberry nevus of skin 		disease Neoplasms Neoplastic Process 5 5 0.100 None 0 1
CUI: C0221217
Disease: Neck webbing
Neck webbing 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 11 19 0.100 None 0 8
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 19 18 0.100 None 0 1
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 30 39 0.100 None 0 1
CUI: C0231528
Disease: Myalgia
Myalgia 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 6 8 0.100 None 0 1
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption 		phenotype Finding 4 4 0.100 None 0 1
CUI: C0239676
Disease: High forehead
High forehead 		phenotype Finding 14 17 0.100 None 0 1
CUI: C0241074
Disease: Hyperextensible skin
Hyperextensible skin 		phenotype Finding 8 11 0.100 None 0 1
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 2 8 0.100 None 0 7
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome 10 9 0.100 None 0 1