TaoMedAI/RareMedData huggingface dataset:
Gene: GDF5
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Chondrodysplasia, Grebe type; Acromesomelic dysplasia, Grebe type (ORPHA:2098)
Gene: GDF5
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: ASPED; Angel-shaped phalango-epiphyseal dysplasia (ORPHA:63442)
Gene: GDF5
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF5
Phenotype: Severe short-limb dwarfism (HP:0008890)
Associated disease: Acromesomelic dwarfism; Acromesomelic dysplasia, Hunter-Thompson type (ORPHA:968)
Gene: GDF5
Phenotype: Severe short-limb dwarfism (HP:0008890)
Associated disease: ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE (OMIM:201250)
Gene: GDF5
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Valgus hand deformity (HP:0006228)
Associated disease: CHONDRODYSPLASIA, GREBE TYPE (OMIM:200700)
Gene: GDF5
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: CHONDRODYSPLASIA, GREBE TYPE (OMIM:200700)
Gene: GDF5
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: Chondrodysplasia, Grebe type; Acromesomelic dysplasia, Grebe type (ORPHA:2098)
Gene: GDF5
Phenotype: Hypersegmentation of proximal phalanx of second finger (HP:0006206)
Associated disease: BRACHYDACTYLY, TYPE C (OMIM:113100)
Gene: GDF5
Phenotype: Hip osteoarthritis (HP:0008843)
Associated disease: ASPED; Angel-shaped phalango-epiphyseal dysplasia (ORPHA:63442)
Gene: GDF5
Phenotype: Abnormal finger flexion crease (HP:0006143)
Associated disease: SYMPHALANGISM, PROXIMAL, 1B (OMIM:615298)
Gene: GDF5
Phenotype: Shortening of all proximal phalanges of the fingers (HP:0006144)
Associated disease: ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE (OMIM:201250)
Gene: GDF5
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF5
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE (OMIM:201250)
Gene: GDF5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHONDRODYSPLASIA, GREBE TYPE (OMIM:200700)
Gene: GDF5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BRACHYDACTYLY, TYPE A1, C (OMIM:615072)
Gene: GDF5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DU PAN SYNDROME (OMIM:228900)
Gene: GDF5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SYMPHALANGISM, PROXIMAL, 1B (OMIM:615298)
Gene: GDF5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Gene: GDF5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BRACHYDACTYLY, TYPE C (OMIM:113100)
Gene: GDF5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BRACHYDACTYLY, TYPE A1, C (OMIM:615072)
Gene: GDF5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 2 (OMIM:610017)
Gene: GDF5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF5
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Chondrodysplasia, Grebe type; Acromesomelic dysplasia, Grebe type (ORPHA:2098)
Gene: GDF5
Phenotype: Scoliosis (HP:0002650)
Associated disease: Brachydactyly type A1; Brachydactyly, Farabee type (ORPHA:93388)
Gene: GDF5
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF5
Phenotype: Scoliosis (HP:0002650)
Associated disease: Acromesomelic dwarfism; Acromesomelic dysplasia, Hunter-Thompson type (ORPHA:968)
Gene: GDF5
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: Acromesomelic dwarfism; Acromesomelic dysplasia, Hunter-Thompson type (ORPHA:968)
Gene: GDF5
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF5
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Rhizomelia (HP:0008905)
Associated disease: DU PAN SYNDROME (OMIM:228900)
Gene: GDF5
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: Du Pan syndrome; Fibular aplasia-complex brachydactyly syndrome (ORPHA:2639)
Gene: GDF5
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: Acromesomelic dwarfism; Acromesomelic dysplasia, Hunter-Thompson type (ORPHA:968)
Gene: GDF5
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: Symphalangism-brachydactyly syndrome; WL syndrome; Deafness-Hermann type symphalangism syndrome; Multiple synostoses syndrome; Facio-audio-symphalangism; Hearing loss-Hermann type symphalangism syndrome (ORPHA:3237)
Gene: GDF5
Phenotype: Fibular torsion (HP:6000921)
Associated disease: CHONDRODYSPLASIA, GREBE TYPE (OMIM:200700)
Gene: GDF5
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: ASPED; Angel-shaped phalango-epiphyseal dysplasia (ORPHA:63442)
Gene: GDF5
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: BRACHYDACTYLY, TYPE C (OMIM:113100)
Gene: GDF5
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Gene: GDF5
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Acromesomelic dwarfism; Acromesomelic dysplasia, Hunter-Thompson type (ORPHA:968)
Gene: GDF5
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF5
Phenotype: Short 3rd finger (HP:0009461)
Associated disease: BRACHYDACTYLY, TYPE C (OMIM:113100)
Gene: GDF5
Phenotype: Ulnar deviation of the 3rd finger (HP:0009463)
Associated disease: BRACHYDACTYLY, TYPE C (OMIM:113100)
Gene: GDF5
Phenotype: Ulnar deviation of finger (HP:0009465)
Associated disease: Brachydactyly type C (ORPHA:93384)
Gene: GDF5
Phenotype: Ulnar deviation of the 2nd finger (HP:0009464)
Associated disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Gene: GDF5
Phenotype: Ulnar deviation of the 2nd finger (HP:0009464)
Associated disease: BRACHYDACTYLY, TYPE C (OMIM:113100)
Gene: GDF5
Phenotype: Radial deviation of the 2nd finger (HP:0009467)
Associated disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Gene: GDF5
Phenotype: Triangular shaped proximal phalanx of the 3rd finger (HP:0009456)
Associated disease: BRACHYDACTYLY, TYPE C (OMIM:113100)
Gene: GDF5
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Deformed tarsal bones (HP:0008119)
Associated disease: DU PAN SYNDROME (OMIM:228900)
Gene: GDF5
Phenotype: Triangular shaped middle phalanx of the 3rd finger (HP:0009436)
Associated disease: BRACHYDACTYLY, TYPE C (OMIM:113100)
Gene: GDF5
Phenotype: Short middle phalanx of the 3rd finger (HP:0009439)
Associated disease: BRACHYDACTYLY, TYPE A1, C (OMIM:615072)
Gene: GDF5
Phenotype: Short middle phalanx of the 3rd finger (HP:0009439)
Associated disease: BRACHYDACTYLY, TYPE C (OMIM:113100)
Gene: GDF5
Phenotype: Pseudoepiphyses of the 3rd finger (HP:0009417)
Associated disease: BRACHYDACTYLY, TYPE C (OMIM:113100)
Gene: GDF5
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: ASPED; Angel-shaped phalango-epiphyseal dysplasia (ORPHA:63442)
Gene: GDF5
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Du Pan syndrome; Fibular aplasia-complex brachydactyly syndrome (ORPHA:2639)
Gene: GDF5
Phenotype: Abnormal metacarpal morphology (HP:0005916)
Associated disease: Proximal symphalangism; Symphalangism, Cushing type (ORPHA:3250)
Gene: GDF5
Phenotype: Aplasia/Hypoplasia involving the metacarpal bones (HP:0005914)
Associated disease: CHONDRODYSPLASIA, GREBE TYPE (OMIM:200700)
Gene: GDF5
Phenotype: Aplasia/Hypoplasia involving the metacarpal bones (HP:0005914)
Associated disease: Chondrodysplasia, Grebe type; Acromesomelic dysplasia, Grebe type (ORPHA:2098)
Gene: GDF5
Phenotype: Pseudoepiphysis of the 2nd finger (HP:0009495)
Associated disease: Brachydactyly type C (ORPHA:93384)
Gene: GDF5
Phenotype: Pseudoepiphysis of the 2nd finger (HP:0009495)
Associated disease: BRACHYDACTYLY, TYPE C (OMIM:113100)
Gene: GDF5
Phenotype: Hypersegmentation of proximal phalanx of third finger (HP:0011929)
Associated disease: BRACHYDACTYLY, TYPE C (OMIM:113100)
Gene: GDF5
Phenotype: Complete duplication of distal phalanx of the thumb (HP:0009606)
Associated disease: Brachydactyly type C (ORPHA:93384)
Gene: GDF5
Phenotype: Short digit (HP:0011927)
Associated disease: CHONDRODYSPLASIA, GREBE TYPE (OMIM:200700)
Gene: GDF5
Phenotype: Aplasia/Hypoplasia of the thumb (HP:0009601)
Associated disease: Chondrodysplasia, Grebe type; Acromesomelic dysplasia, Grebe type (ORPHA:2098)
Gene: GDF5
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Acromesomelic dwarfism; Acromesomelic dysplasia, Hunter-Thompson type (ORPHA:968)
Gene: GDF5
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Proximal symphalangism; Symphalangism, Cushing type (ORPHA:3250)
Gene: GDF5
Phenotype: Triangular shaped proximal phalanx of the 2nd finger (HP:0009587)
Associated disease: BRACHYDACTYLY, TYPE C (OMIM:113100)
Gene: GDF5
Phenotype: Triangular shaped middle phalanx of the 2nd finger (HP:0009575)
Associated disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Gene: GDF5
Phenotype: Triangular shaped middle phalanx of the 2nd finger (HP:0009575)
Associated disease: BRACHYDACTYLY, TYPE C (OMIM:113100)
Gene: GDF5
Phenotype: Short middle phalanx of the 2nd finger (HP:0009577)
Associated disease: BRACHYDACTYLY, TYPE A1, C (OMIM:615072)
Gene: GDF5
Phenotype: Short middle phalanx of the 2nd finger (HP:0009577)
Associated disease: BRACHYDACTYLY, TYPE C (OMIM:113100)
Gene: GDF5
Phenotype: Aplasia/Hypoplasia of the middle phalanx of the 2nd finger (HP:0009568)
Associated disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Gene: GDF5
Phenotype: Aplasia/Hypoplasia of the middle phalanx of the 2nd finger (HP:0009568)
Associated disease: Brachydactyly, Mohr-Wriedt type; Brachydactyly type A2 (ORPHA:93396)
Gene: GDF5
Phenotype: Triangular epiphysis of the proximal phalanx of the 2nd finger (HP:0009534)
Associated disease: BRACHYDACTYLY, TYPE C (OMIM:113100)
Gene: GDF5
Phenotype: Short 2nd finger (HP:0009536)
Associated disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Gene: GDF5
Phenotype: Short 2nd finger (HP:0009536)
Associated disease: SYMPHALANGISM, PROXIMAL, 1B (OMIM:615298)
Gene: GDF5
Phenotype: Short 2nd finger (HP:0009536)
Associated disease: BRACHYDACTYLY, TYPE C (OMIM:113100)
Gene: GDF5
Phenotype: Metatarsus valgus (HP:0010508)
Associated disease: Brachydactyly type C (ORPHA:93384)
Gene: GDF5
Phenotype: Triangular epiphysis of the middle phalanx of the 2nd finger (HP:0009523)
Associated disease: BRACHYDACTYLY, TYPE C (OMIM:113100)
Gene: GDF5
Phenotype: Enlarged epiphysis of the proximal phalanx of the 2nd finger (HP:0009527)
Associated disease: BRACHYDACTYLY, TYPE C (OMIM:113100)
Gene: GDF5
Phenotype: Enlarged epiphysis of the middle phalanx of the 2nd finger (HP:0009516)
Associated disease: BRACHYDACTYLY, TYPE C (OMIM:113100)
Gene: GDF5
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: Brachydactyly type C (ORPHA:93384)
Gene: GDF5
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: Brachydactyly type A1; Brachydactyly, Farabee type (ORPHA:93388)
Gene: GDF5
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: Symphalangism-brachydactyly syndrome; WL syndrome; Deafness-Hermann type symphalangism syndrome; Multiple synostoses syndrome; Facio-audio-symphalangism; Hearing loss-Hermann type symphalangism syndrome (ORPHA:3237)
Gene: GDF5
Phenotype: Congenital onset (HP:0003577)
Associated disease: CHONDRODYSPLASIA, GREBE TYPE (OMIM:200700)
Gene: GDF5
Phenotype: Finger symphalangism (HP:0009700)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 2 (OMIM:610017)
Gene: GDF5
Phenotype: Carpal synostosis (HP:0009702)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 2 (OMIM:610017)
Gene: GDF5
Phenotype: Tarsal synostosis (HP:0008368)
Associated disease: Du Pan syndrome; Fibular aplasia-complex brachydactyly syndrome (ORPHA:2639)
Gene: GDF5
Phenotype: Tarsal synostosis (HP:0008368)
Associated disease: Chondrodysplasia, Grebe type; Acromesomelic dysplasia, Grebe type (ORPHA:2098)
Gene: GDF5
Phenotype: Tarsal synostosis (HP:0008368)
Associated disease: Acromesomelic dwarfism; Acromesomelic dysplasia, Hunter-Thompson type (ORPHA:968)
Gene: GDF5
Phenotype: Tarsal synostosis (HP:0008368)
Associated disease: Proximal symphalangism; Symphalangism, Cushing type (ORPHA:3250)
Gene: GDF5
Phenotype: Tarsal synostosis (HP:0008368)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 2 (OMIM:610017)
Gene: GDF5
Phenotype: Stippling of the epiphysis of the distal phalanx of the thumb (HP:0009684)
Associated disease: Brachydactyly type C (ORPHA:93384)
Gene: GDF5
Phenotype: Aplastic/hypoplastic toenail (HP:0010624)
Associated disease: DU PAN SYNDROME (OMIM:228900)
Gene: GDF5
Phenotype: Angel-shaped phalanx (HP:0032078)
Associated disease: BRACHYDACTYLY, TYPE C (OMIM:113100)
Gene: GDF5
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF5
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: CHONDRODYSPLASIA, GREBE TYPE (OMIM:200700)
Gene: GDF5
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DU PAN SYNDROME (OMIM:228900)
Gene: GDF5
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Absent toe (HP:0010760)
Associated disease: DU PAN SYNDROME (OMIM:228900)
Gene: GDF5
Phenotype: Symphalangism affecting the phalanges of the hand (HP:0009773)
Associated disease: Brachydactyly type C (ORPHA:93384)
Gene: GDF5
Phenotype: Symphalangism affecting the phalanges of the hand (HP:0009773)
Associated disease: Symphalangism-brachydactyly syndrome; WL syndrome; Deafness-Hermann type symphalangism syndrome; Multiple synostoses syndrome; Facio-audio-symphalangism; Hearing loss-Hermann type symphalangism syndrome (ORPHA:3237)
Gene: GDF5
Phenotype: Short thumb (HP:0009778)
Associated disease: Brachydactyly type A1; Brachydactyly, Farabee type (ORPHA:93388)
Gene: GDF5
Phenotype: Short thumb (HP:0009778)
Associated disease: Acromesomelic dwarfism; Acromesomelic dysplasia, Hunter-Thompson type (ORPHA:968)
Gene: GDF5
Phenotype: Short thumb (HP:0009778)
Associated disease: ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE (OMIM:201250)
Gene: GDF5
Phenotype: Short metatarsal (HP:0010743)
Associated disease: DU PAN SYNDROME (OMIM:228900)
Gene: GDF5
Phenotype: Short metatarsal (HP:0010743)
Associated disease: Brachydactyly type C (ORPHA:93384)
Gene: GDF5
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF5
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF5
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF5
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: SYMPHALANGISM, PROXIMAL, 1B (OMIM:615298)
Gene: GDF5
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Gene: GDF5
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Brachydactyly, Mohr-Wriedt type; Brachydactyly type A2 (ORPHA:93396)
Gene: GDF5
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Proximal symphalangism; Symphalangism, Cushing type (ORPHA:3250)
Gene: GDF5
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Brachydactyly type C (ORPHA:93384)
Gene: GDF5
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Brachydactyly type A1; Brachydactyly, Farabee type (ORPHA:93388)
Gene: GDF5
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: BRACHYDACTYLY, TYPE C (OMIM:113100)
Gene: GDF5
Phenotype: Short palm (HP:0004279)
Associated disease: Symphalangism-brachydactyly syndrome; WL syndrome; Deafness-Hermann type symphalangism syndrome; Multiple synostoses syndrome; Facio-audio-symphalangism; Hearing loss-Hermann type symphalangism syndrome (ORPHA:3237)
Gene: GDF5
Phenotype: Short middle phalanx of the 5th finger (HP:0004220)
Associated disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Gene: GDF5
Phenotype: Short middle phalanx of the 5th finger (HP:0004220)
Associated disease: BRACHYDACTYLY, TYPE A1, C (OMIM:615072)
Gene: GDF5
Phenotype: Short middle phalanx of the 5th finger (HP:0004220)
Associated disease: ASPED; Angel-shaped phalango-epiphyseal dysplasia (ORPHA:63442)
Gene: GDF5
Phenotype: Short middle phalanx of the 5th finger (HP:0004220)
Associated disease: Brachydactyly, Mohr-Wriedt type; Brachydactyly type A2 (ORPHA:93396)
Gene: GDF5
Phenotype: Short middle phalanx of the 5th finger (HP:0004220)
Associated disease: BRACHYDACTYLY, TYPE C (OMIM:113100)
Gene: GDF5
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Tibiotalar synostosis (HP:6001052)
Associated disease: CHONDRODYSPLASIA, GREBE TYPE (OMIM:200700)
Gene: GDF5
Phenotype: Aplasia/Hypoplasia of metatarsal bones (HP:0001964)
Associated disease: CHONDRODYSPLASIA, GREBE TYPE (OMIM:200700)
Gene: GDF5
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF5
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF5
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF5
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DU PAN SYNDROME (OMIM:228900)
Gene: GDF5
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Short metacarpal (HP:0010049)
Associated disease: Acromesomelic dwarfism; Acromesomelic dysplasia, Hunter-Thompson type (ORPHA:968)
Gene: GDF5
Phenotype: Broad hallux (HP:0010055)
Associated disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Gene: GDF5
Phenotype: Short 2nd metacarpal (HP:0010038)
Associated disease: Brachydactyly, Mohr-Wriedt type; Brachydactyly type A2 (ORPHA:93396)
Gene: GDF5
Phenotype: Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)
Associated disease: Brachydactyly type C (ORPHA:93384)
Gene: GDF5
Phenotype: Short 1st metacarpal (HP:0010034)
Associated disease: BRACHYDACTYLY, TYPE A1, C (OMIM:615072)
Gene: GDF5
Phenotype: Short 1st metacarpal (HP:0010034)
Associated disease: ASPED; Angel-shaped phalango-epiphyseal dysplasia (ORPHA:63442)
Gene: GDF5
Phenotype: Short 1st metacarpal (HP:0010034)
Associated disease: BRACHYDACTYLY, TYPE C (OMIM:113100)
Gene: GDF5
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: ASPED; Angel-shaped phalango-epiphyseal dysplasia (ORPHA:63442)
Gene: GDF5
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF5
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Broad thumb (HP:0011304)
Associated disease: Symphalangism-brachydactyly syndrome; WL syndrome; Deafness-Hermann type symphalangism syndrome; Multiple synostoses syndrome; Facio-audio-symphalangism; Hearing loss-Hermann type symphalangism syndrome (ORPHA:3237)
Gene: GDF5
Phenotype: Hypodontia (HP:0000668)
Associated disease: ASPED; Angel-shaped phalango-epiphyseal dysplasia (ORPHA:63442)
Gene: GDF5
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Short stature (HP:0004322)
Associated disease: ASPED; Angel-shaped phalango-epiphyseal dysplasia (ORPHA:63442)
Gene: GDF5
Phenotype: Short stature (HP:0004322)
Associated disease: BRACHYDACTYLY, TYPE C (OMIM:113100)
Gene: GDF5
Phenotype: Short stature (HP:0004322)
Associated disease: Brachydactyly type C (ORPHA:93384)
Gene: GDF5
Phenotype: Short stature (HP:0004322)
Associated disease: Brachydactyly type A1; Brachydactyly, Farabee type (ORPHA:93388)
Gene: GDF5
Phenotype: Short stature (HP:0004322)
Associated disease: BRACHYDACTYLY, TYPE A1, C (OMIM:615072)
Gene: GDF5
Phenotype: Short stature (HP:0004322)
Associated disease: Du Pan syndrome; Fibular aplasia-complex brachydactyly syndrome (ORPHA:2639)
Gene: GDF5
Phenotype: Elbow ankylosis (HP:0003070)
Associated disease: Proximal symphalangism; Symphalangism, Cushing type (ORPHA:3250)
Gene: GDF5
Phenotype: Acromesomelia (HP:0003086)
Associated disease: CHONDRODYSPLASIA, GREBE TYPE (OMIM:200700)
Gene: GDF5
Phenotype: Acromesomelia (HP:0003086)
Associated disease: ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE (OMIM:201250)
Gene: GDF5
Phenotype: Acromesomelia (HP:0003086)
Associated disease: Acromesomelic dwarfism; Acromesomelic dysplasia, Hunter-Thompson type (ORPHA:968)
Gene: GDF5
Phenotype: Madelung deformity (HP:0003067)
Associated disease: BRACHYDACTYLY, TYPE C (OMIM:113100)
Gene: GDF5
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF5
Phenotype: Fibular hypoplasia (HP:0003038)
Associated disease: CHONDRODYSPLASIA, GREBE TYPE (OMIM:200700)
Gene: GDF5
Phenotype: Fibular hypoplasia (HP:0003038)
Associated disease: BRACHYDACTYLY, TYPE A1, C (OMIM:615072)
Gene: GDF5
Phenotype: Fibular hypoplasia (HP:0003038)
Associated disease: ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE (OMIM:201250)
Gene: GDF5
Phenotype: Fibular hypoplasia (HP:0003038)
Associated disease: Chondrodysplasia, Grebe type; Acromesomelic dysplasia, Grebe type (ORPHA:2098)
Gene: GDF5
Phenotype: Fibular hypoplasia (HP:0003038)
Associated disease: DU PAN SYNDROME (OMIM:228900)
Gene: GDF5
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF5
Phenotype: Abnormality of the ankle (HP:0003028)
Associated disease: Acromesomelic dwarfism; Acromesomelic dysplasia, Hunter-Thompson type (ORPHA:968)
Gene: GDF5
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: Proximal symphalangism; Symphalangism, Cushing type (ORPHA:3250)
Gene: GDF5
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE (OMIM:201250)
Gene: GDF5
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: Acromesomelic dwarfism; Acromesomelic dysplasia, Hunter-Thompson type (ORPHA:968)
Gene: GDF5
Phenotype: Humeroradial synostosis (HP:0003041)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 2 (OMIM:610017)
Gene: GDF5
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)