TaoMedAI/RareMedData huggingface dataset:
Gene: IHH
Phenotype: Slender metacarpals (HP:0006236)
Associated disease: BRACHYDACTYLY, TYPE A1 (OMIM:112500)
Gene: IHH
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: ACROCAPITOFEMORAL DYSPLASIA (OMIM:607778)
Gene: IHH
Phenotype: Thin proximal phalanges with broad epiphyses of the hand (HP:0006213)
Associated disease: BRACHYDACTYLY, TYPE A1 (OMIM:112500)
Gene: IHH
Phenotype: Single interphalangeal crease of fifth finger (HP:0006216)
Associated disease: ACROCAPITOFEMORAL DYSPLASIA (OMIM:607778)
Gene: IHH
Phenotype: Proportionate shortening of all digits (HP:0006165)
Associated disease: BRACHYDACTYLY, TYPE A1 (OMIM:112500)
Gene: IHH
Phenotype: Broad metacarpal epiphyses (HP:0006146)
Associated disease: BRACHYDACTYLY, TYPE A1 (OMIM:112500)
Gene: IHH
Phenotype: Cone-shaped capital femoral epiphysis (HP:0008789)
Associated disease: ACROCAPITOFEMORAL DYSPLASIA (OMIM:607778)
Gene: IHH
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IHH
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ACROCAPITOFEMORAL DYSPLASIA (OMIM:607778)
Gene: IHH
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BRACHYDACTYLY, TYPE A1 (OMIM:112500)
Gene: IHH
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IHH
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Acrocapitofemoral dysplasia (ORPHA:63446)
Gene: IHH
Phenotype: Scoliosis (HP:0002650)
Associated disease: Acrocapitofemoral dysplasia (ORPHA:63446)
Gene: IHH
Phenotype: Scoliosis (HP:0002650)
Associated disease: Brachydactyly type A1; Brachydactyly, Farabee type (ORPHA:93388)
Gene: IHH
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IHH
Phenotype: Scoliosis (HP:0002650)
Associated disease: ACROCAPITOFEMORAL DYSPLASIA (OMIM:607778)
Gene: IHH
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IHH
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Enlarged humeral head (HP:6000884)
Associated disease: ACROCAPITOFEMORAL DYSPLASIA (OMIM:607778)
Gene: IHH
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Acrocapitofemoral dysplasia (ORPHA:63446)
Gene: IHH
Phenotype: Abnormal femoral neck morphology (HP:0003367)
Associated disease: Acrocapitofemoral dysplasia (ORPHA:63446)
Gene: IHH
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Acrocapitofemoral dysplasia (ORPHA:63446)
Gene: IHH
Phenotype: Ovoid vertebral bodies (HP:0003300)
Associated disease: Acrocapitofemoral dysplasia (ORPHA:63446)
Gene: IHH
Phenotype: Ovoid vertebral bodies (HP:0003300)
Associated disease: ACROCAPITOFEMORAL DYSPLASIA (OMIM:607778)
Gene: IHH
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IHH
Phenotype: Radial deviation of the 3rd finger (HP:0009462)
Associated disease: BRACHYDACTYLY, TYPE A1 (OMIM:112500)
Gene: IHH
Phenotype: Radial deviation of the 2nd finger (HP:0009467)
Associated disease: BRACHYDACTYLY, TYPE A1 (OMIM:112500)
Gene: IHH
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Dysplasia of the femoral head (HP:0010575)
Associated disease: ACROCAPITOFEMORAL DYSPLASIA (OMIM:607778)
Gene: IHH
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: Acrocapitofemoral dysplasia (ORPHA:63446)
Gene: IHH
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: ACROCAPITOFEMORAL DYSPLASIA (OMIM:607778)
Gene: IHH
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: Brachydactyly type A1; Brachydactyly, Farabee type (ORPHA:93388)
Gene: IHH
Phenotype: Short proximal phalanx of thumb (HP:0009638)
Associated disease: BRACHYDACTYLY, TYPE A1 (OMIM:112500)
Gene: IHH
Phenotype: Short proximal phalanx of thumb (HP:0009638)
Associated disease: ACROCAPITOFEMORAL DYSPLASIA (OMIM:607778)
Gene: IHH
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Absent distal interphalangeal creases (HP:0001032)
Associated disease: BRACHYDACTYLY, TYPE A1 (OMIM:112500)
Gene: IHH
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IHH
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Aplasia/Hypoplasia of the middle phalanges of the hand (HP:0009843)
Associated disease: BRACHYDACTYLY, TYPE A1 (OMIM:112500)
Gene: IHH
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: ACROCAPITOFEMORAL DYSPLASIA (OMIM:607778)
Gene: IHH
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Short thumb (HP:0009778)
Associated disease: Brachydactyly type A1; Brachydactyly, Farabee type (ORPHA:93388)
Gene: IHH
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IHH
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IHH
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IHH
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: BRACHYDACTYLY, TYPE A1 (OMIM:112500)
Gene: IHH
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Brachydactyly type A1; Brachydactyly, Farabee type (ORPHA:93388)
Gene: IHH
Phenotype: Short palm (HP:0004279)
Associated disease: Acrocapitofemoral dysplasia (ORPHA:63446)
Gene: IHH
Phenotype: Short palm (HP:0004279)
Associated disease: ACROCAPITOFEMORAL DYSPLASIA (OMIM:607778)
Gene: IHH
Phenotype: Short palm (HP:0004279)
Associated disease: BRACHYDACTYLY, TYPE A1 (OMIM:112500)
Gene: IHH
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IHH
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IHH
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IHH
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Short metacarpal (HP:0010049)
Associated disease: ACROCAPITOFEMORAL DYSPLASIA (OMIM:607778)
Gene: IHH
Phenotype: Short metacarpal (HP:0010049)
Associated disease: BRACHYDACTYLY, TYPE A1 (OMIM:112500)
Gene: IHH
Phenotype: Cone-shaped epiphysis of the 1st metacarpal (HP:0010017)
Associated disease: ACROCAPITOFEMORAL DYSPLASIA (OMIM:607778)
Gene: IHH
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IHH
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Short stature (HP:0004322)
Associated disease: Acrocapitofemoral dysplasia (ORPHA:63446)
Gene: IHH
Phenotype: Short stature (HP:0004322)
Associated disease: BRACHYDACTYLY, TYPE A1 (OMIM:112500)
Gene: IHH
Phenotype: Short stature (HP:0004322)
Associated disease: Brachydactyly type A1; Brachydactyly, Farabee type (ORPHA:93388)
Gene: IHH
Phenotype: Short stature (HP:0004322)
Associated disease: ACROCAPITOFEMORAL DYSPLASIA (OMIM:607778)
Gene: IHH
Phenotype: Aplasia/Hypoplasia of the middle phalanges of the toes (HP:0010194)
Associated disease: BRACHYDACTYLY, TYPE A1 (OMIM:112500)
Gene: IHH
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IHH
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IHH
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: Brachydactyly type A1; Brachydactyly, Farabee type (ORPHA:93388)
Gene: IHH
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: ACROCAPITOFEMORAL DYSPLASIA (OMIM:607778)
Gene: IHH
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Acrocapitofemoral dysplasia (ORPHA:63446)
Gene: IHH
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: ACROCAPITOFEMORAL DYSPLASIA (OMIM:607778)
Gene: IHH
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Acrocapitofemoral dysplasia (ORPHA:63446)
Gene: IHH
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: ACROCAPITOFEMORAL DYSPLASIA (OMIM:607778)
Gene: IHH
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Short hallux (HP:0010109)
Associated disease: Brachydactyly type A1; Brachydactyly, Farabee type (ORPHA:93388)
Gene: IHH
Phenotype: Short proximal phalanx of hallux (HP:0010107)
Associated disease: BRACHYDACTYLY, TYPE A1 (OMIM:112500)
Gene: IHH
Phenotype: Narrow chest (HP:0000774)
Associated disease: Acrocapitofemoral dysplasia (ORPHA:63446)
Gene: IHH
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Narrow chest (HP:0000774)
Associated disease: ACROCAPITOFEMORAL DYSPLASIA (OMIM:607778)
Gene: IHH
Phenotype: Short ribs (HP:0000773)
Associated disease: ACROCAPITOFEMORAL DYSPLASIA (OMIM:607778)
Gene: IHH
Phenotype: Short tibia (HP:0005736)
Associated disease: ACROCAPITOFEMORAL DYSPLASIA (OMIM:607778)
Gene: IHH
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: ACROCAPITOFEMORAL DYSPLASIA (OMIM:607778)
Gene: IHH
Phenotype: Short humerus (HP:0005792)
Associated disease: ACROCAPITOFEMORAL DYSPLASIA (OMIM:607778)
Gene: IHH
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IHH
Phenotype: Cupped ribs (HP:0000887)
Associated disease: ACROCAPITOFEMORAL DYSPLASIA (OMIM:607778)
Gene: IHH
Phenotype: Fibular overgrowth (HP:0003099)
Associated disease: ACROCAPITOFEMORAL DYSPLASIA (OMIM:607778)
Gene: IHH
Phenotype: Short femur (HP:0003097)
Associated disease: ACROCAPITOFEMORAL DYSPLASIA (OMIM:607778)
Gene: IHH
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IHH
Phenotype: Radial deviation of the 4th finger (HP:0009279)
Associated disease: BRACHYDACTYLY, TYPE A1 (OMIM:112500)
Gene: IHH
Phenotype: Short proximal phalanx of finger (HP:0010241)
Associated disease: ACROCAPITOFEMORAL DYSPLASIA (OMIM:607778)
Gene: IHH
Phenotype: Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)
Associated disease: ACROCAPITOFEMORAL DYSPLASIA (OMIM:607778)
Gene: IHH
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IHH
Phenotype: Short thorax (HP:0010306)
Associated disease: Acrocapitofemoral dysplasia (ORPHA:63446)
Gene: IHH
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Short middle phalanx of finger (HP:0005819)
Associated disease: ACROCAPITOFEMORAL DYSPLASIA (OMIM:607778)
Gene: IHH
Phenotype: Short middle phalanx of finger (HP:0005819)
Associated disease: Brachydactyly type A1; Brachydactyly, Farabee type (ORPHA:93388)
Gene: IHH
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Acrocapitofemoral dysplasia (ORPHA:63446)
Gene: IHH
Phenotype: Enlargement of the distal femoral epiphysis (HP:0006438)
Associated disease: ACROCAPITOFEMORAL DYSPLASIA (OMIM:607778)
Gene: IHH
Phenotype: Coxa vara (HP:0002812)
Associated disease: Acrocapitofemoral dysplasia (ORPHA:63446)
Gene: IHH
Phenotype: Coxa vara (HP:0002812)
Associated disease: ACROCAPITOFEMORAL DYSPLASIA (OMIM:607778)
Gene: IHH
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IHH
Phenotype: Flared iliac wing (HP:0002869)
Associated disease: Acrocapitofemoral dysplasia (ORPHA:63446)
Gene: IHH
Phenotype: Flared iliac wing (HP:0002869)
Associated disease: ACROCAPITOFEMORAL DYSPLASIA (OMIM:607778)
Gene: IHH
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IHH
Phenotype: Hypoplastic iliac wing (HP:0002866)
Associated disease: ACROCAPITOFEMORAL DYSPLASIA (OMIM:607778)
Gene: IHH
Phenotype: Small finger (HP:0030033)
Associated disease: ACROCAPITOFEMORAL DYSPLASIA (OMIM:607778)
Gene: IHH
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IHH
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: ACROCAPITOFEMORAL DYSPLASIA (OMIM:607778)
Gene: IHH
Phenotype: Flattened metatarsal heads (HP:0005194)
Associated disease: BRACHYDACTYLY, TYPE A1 (OMIM:112500)
Gene: IHH
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IHH
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IHH
Phenotype: Micromelia (HP:0002983)
Associated disease: Acrocapitofemoral dysplasia (ORPHA:63446)
Gene: IHH
Phenotype: Micromelia (HP:0002983)
Associated disease: ACROCAPITOFEMORAL DYSPLASIA (OMIM:607778)
Gene: IHH
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Radial bowing (HP:0002986)
Associated disease: ACROCAPITOFEMORAL DYSPLASIA (OMIM:607778)
Gene: IHH
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: ACROCAPITOFEMORAL DYSPLASIA (OMIM:607778)
Gene: IHH
Phenotype: Genu varum (HP:0002970)
Associated disease: Acrocapitofemoral dysplasia (ORPHA:63446)
Gene: IHH
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Genu varum (HP:0002970)
Associated disease: ACROCAPITOFEMORAL DYSPLASIA (OMIM:607778)
Gene: IHH
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IHH
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Small nail (HP:0001792)
Associated disease: Acrocapitofemoral dysplasia (ORPHA:63446)
Gene: IHH
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Short nail (HP:0001799)
Associated disease: ACROCAPITOFEMORAL DYSPLASIA (OMIM:607778)
Gene: IHH
Phenotype: Short foot (HP:0001773)
Associated disease: Brachydactyly type A1; Brachydactyly, Farabee type (ORPHA:93388)
Gene: IHH
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Brachydactyly type A1; Brachydactyly, Farabee type (ORPHA:93388)
Gene: IHH
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IHH
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Broad nail (HP:0001821)
Associated disease: ACROCAPITOFEMORAL DYSPLASIA (OMIM:607778)
Gene: IHH
Phenotype: Broad nail (HP:0001821)
Associated disease: Acrocapitofemoral dysplasia (ORPHA:63446)
Gene: IHH
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IHH
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IKBKB
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IKBKB
Phenotype: Decreased proportion of CD4-positive T cells (HP:0032218)
Associated disease: IMMUNODEFICIENCY 15A (OMIM:618204)
Gene: IKBKB
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IKBKB
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKB
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IKBKB
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKB
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IKBKB
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKB
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKB
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IKBKB
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 15B (OMIM:615592)
Gene: IKBKB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: IMMUNODEFICIENCY 15A (OMIM:618204)
Gene: IKBKB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IKBKB
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IKBKB
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKB
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IKBKB
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKB
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKB
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKB
Phenotype: Cutaneous abscess (HP:0031292)
Associated disease: IMMUNODEFICIENCY 15A (OMIM:618204)
Gene: IKBKB
Phenotype: Recurrent infections (HP:0002719)
Associated disease: IMMUNODEFICIENCY 15B (OMIM:615592)
Gene: IKBKB
Phenotype: Chronic mucocutaneous candidiasis (HP:0002728)
Associated disease: IMMUNODEFICIENCY 15A (OMIM:618204)
Gene: IKBKB
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY 15B (OMIM:615592)
Gene: IKBKB
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: IMMUNODEFICIENCY 15B (OMIM:615592)
Gene: IKBKB
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IKBKB
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKB
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 15B (OMIM:615592)
Gene: IKBKB
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: IMMUNODEFICIENCY 15A (OMIM:618204)
Gene: IKBKB
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKB
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IKBKB
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKB
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKB
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IKBKB
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IKBKB
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IKBKB
Phenotype: Chronic oral candidiasis (HP:0009098)
Associated disease: IMMUNODEFICIENCY 15B (OMIM:615592)
Gene: IKBKB
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKB
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IKBKB
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IKBKB
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKB
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)