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: C1843096
Disease: Acrocapitofemoral Dysplasia
Acrocapitofemoral Dysplasia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 2 0.710 None 1.000 4 2 2003 2015
CUI: C1863307
Disease: Acropectorovertebral Dysplasia, F-Form
Acropectorovertebral Dysplasia, F-Form 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 0.300 strong 1.000 1 2015 2015
CUI: C0575827
Disease: Small finger
Small finger 		phenotype Finding 1 0.100 None 0
CUI: C1843105
Disease: Enlargement of the distal femoral epiphysis
Enlargement of the distal femoral epiphysis 		phenotype Finding 1 0.100 None 0
CUI: C1846157
Disease: Cone-shaped capital femoral epiphysis
Cone-shaped capital femoral epiphysis 		phenotype Finding 1 0.100 None 0
CUI: C4024106
Disease: Cone-shaped epiphysis of the 1st metacarpal
Cone-shaped epiphysis of the 1st metacarpal 		disease Anatomical Abnormality 1 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: C4025079
Disease: Thin proximal phalanges with broad epiphyses of the hand
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: C0432282
Disease: Dysplasia epiphysealis hemimelica
Dysplasia epiphysealis hemimelica 		disease Musculoskeletal Diseases Disease or Syndrome 2 0.010 None 1.000 1 2006 2006
CUI: C1832590
Disease: Craniosynostosis, Philadelphia Type
Craniosynostosis, Philadelphia Type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 0.010 None 1.000 1 2015 2015
CUI: C1861380
Disease: Syndactyly, Type I
Syndactyly, Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 2 0.300 strong 1.000 1 2011 2011
CUI: C1855091
Disease: Short proximal phalanx of thumb
Short proximal phalanx of thumb 		phenotype Finding 2 0.100 None 0
CUI: C1864298
Disease: Fibular overgrowth
Fibular overgrowth 		phenotype Finding 2 0.100 None 0
CUI: C4025240
Disease: Flattened metatarsal heads
Flattened metatarsal heads 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C4225399
Disease: SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES
SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES 		disease Disease or Syndrome 3 6 0.010 None 1.000 1 2018 2018
CUI: C1855239
Disease: Cone-shaped metacarpal epiphyses
Cone-shaped metacarpal epiphyses 		phenotype Finding 3 0.100 None 0
CUI: C1860606
Disease: Short proximal phalanx of finger
Short proximal phalanx of finger 		phenotype Congenital Abnormality 3 0.100 None 0
CUI: C1862159
Disease: Short proximal phalanx of hallux
Short proximal phalanx of hallux 		phenotype Finding 3 0.100 None 0
CUI: C4021251
Disease: Dysplasia of the femoral head
Dysplasia of the femoral head 		phenotype Finding 3 2 0.100 None 0
CUI: C4025077
Disease: Slender metacarpals
Slender metacarpals 		disease Anatomical Abnormality 3 0.100 None 0
CUI: C1862157
Disease: Proportionate shortening of all digits
Proportionate shortening of all digits 		phenotype Congenital Abnormality 4 2 0.100 None 0
CUI: C1862158
Disease: Terminal symphalangism of hands
Terminal symphalangism of hands 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 4 0.100 None 0
CUI: C1865039
Disease: Cupped ribs
Cupped ribs 		phenotype Finding 4 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