IHH, Indian hedgehog signaling molecule, 3549

N. diseases: 130; N. variants: 14
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: C0426817
Disease: Short ribs
Short ribs
phenotype Finding 60 27 0.100 None 0
CUI: C0426790
Disease: Narrow thorax
Narrow thorax
phenotype Finding 112 18 0.100 None 0
CUI: C0426789
Disease: Short thorax
Short thorax
phenotype Finding 51 8 0.100 None 0
CUI: C1832117
Disease: Short humerus
Short humerus
phenotype Congenital Abnormality 24 0.100 None 0
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 186 65 0.100 None 0
CUI: C1836184
Disease: Short femoral neck
Short femoral neck
phenotype Finding 31 0.100 None 0
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger
phenotype Finding 85 3 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C1844709
Disease: Radial deviation of the 2nd finger
Radial deviation of the 2nd finger
phenotype Finding 7 1 0.100 None 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
disease Congenital Abnormality 284 39 0.100 None 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 272 36 0.100 None 0
CUI: C1865037
Disease: Cone-shaped epiphysis
Cone-shaped epiphysis
phenotype Finding 49 2 0.100 None 0
CUI: C1865039
Disease: Cupped ribs
Cupped ribs
phenotype Finding 4 0.100 None 0
CUI: C1865992
Disease: Short hallux
Short hallux
phenotype Finding 23 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.100 None 0
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
disease Finding 12 52 0.100 None 0 1
CUI: C4021251
Disease: Dysplasia of the femoral head
Dysplasia of the femoral head
phenotype Finding 3 2 0.100 None 0
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 285 44 0.100 None 0
Cone-shaped epiphysis of the 1st metacarpal
disease Anatomical Abnormality 1 0.100 None 0
CUI: C4024345
Disease: Radial deviation of the 3rd finger
Radial deviation of the 3rd finger
disease Anatomical Abnormality 4 0.100 None 0
CUI: C4024473
Disease: Radial deviation of the 4th finger
Radial deviation of the 4th finger
disease Anatomical Abnormality 1 0.100 None 0
CUI: C4025077
Disease: Slender metacarpals
Slender metacarpals
disease Anatomical Abnormality 3 0.100 None 0
Thin proximal phalanges with broad epiphyses of the hand
disease Anatomical Abnormality 1 0.100 None 0
CUI: C4025088
Disease: Broad metacarpal epiphyses
Broad metacarpal epiphyses
disease Anatomical Abnormality 1 0.100 None 0
CUI: C4025240
Disease: Flattened metatarsal heads
Flattened metatarsal heads
disease Anatomical Abnormality 2 0.100 None 0