TaoMedAI/RareMedData huggingface dataset:
Gene: AHI1
Phenotype: Ptosis (HP:0000508)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: AHI1
Phenotype: Ptosis (HP:0000508)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: AHI1
Phenotype: Ptosis (HP:0000508)
Associated disease: JOUBERT SYNDROME 3 (OMIM:608629)
Gene: AHI1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AHI1
Phenotype: Visual impairment (HP:0000505)
Associated disease: JOUBERT SYNDROME 3 (OMIM:608629)
Gene: AHI1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AHI1
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: JOUBERT SYNDROME 3 (OMIM:608629)
Gene: AHI1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AHI1
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AHI1
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: AHI1
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: JOUBERT SYNDROME 3 (OMIM:608629)
Gene: AHI1
Phenotype: Visual loss (HP:0000572)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: AHI1
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AHI1
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AHI1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AHI1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AHI1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DYM
Phenotype: Broad palm (HP:0001169)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Brachydactyly (HP:0001156)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Poor speech (HP:0002465)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYM
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYM
Phenotype: Motor delay (HP:0001270)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SMITH-MCCORT DYSPLASIA 1 (OMIM:607326)
Gene: DYM
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Inability to walk (HP:0002540)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Waddling gait (HP:0002515)
Associated disease: SMITH-MCCORT DYSPLASIA 1 (OMIM:607326)
Gene: DYM
Phenotype: Waddling gait (HP:0002515)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYM
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: SMITH-MCCORT DYSPLASIA 1 (OMIM:607326)
Gene: DYM
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Deformed sella turcica (HP:0002681)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Deformed sella turcica (HP:0002681)
Associated disease: SMITH-MCCORT DYSPLASIA 1 (OMIM:607326)
Gene: DYM
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYM
Phenotype: Hypoplastic facial bones (HP:0002692)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Hypoplastic facial bones (HP:0002692)
Associated disease: SMITH-MCCORT DYSPLASIA 1 (OMIM:607326)
Gene: DYM
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Delayed femoral head ossification (HP:0008829)
Associated disease: SMITH-MCCORT DYSPLASIA 1 (OMIM:607326)
Gene: DYM
Phenotype: Multicentric femoral head ossification (HP:0008835)
Associated disease: SMITH-MCCORT DYSPLASIA 1 (OMIM:607326)
Gene: DYM
Phenotype: Iliac crest serration (HP:0008786)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Iliac crest serration (HP:0008786)
Associated disease: SMITH-MCCORT DYSPLASIA 1 (OMIM:607326)
Gene: DYM
Phenotype: Iliac crest serration (HP:0008786)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYM
Phenotype: Absent speech (HP:0001344)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SMITH-MCCORT DYSPLASIA 1 (OMIM:607326)
Gene: DYM
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYM
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYM
Phenotype: Scoliosis (HP:0002650)
Associated disease: SMITH-MCCORT DYSPLASIA 1 (OMIM:607326)
Gene: DYM
Phenotype: Scoliosis (HP:0002650)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Spondyloepimetaphyseal dysplasia (HP:0002651)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYM
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Rhizomelia (HP:0008905)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Rhizomelia (HP:0008905)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Carpal bone hypoplasia (HP:0001498)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Wide mouth (HP:0000154)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Horizontal inferior border of scapula (HP:0031233)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Abnormal femoral head morphology (HP:0003368)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Hypoplasia of the odontoid process (HP:0003311)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Hypoplasia of the odontoid process (HP:0003311)
Associated disease: SMITH-MCCORT DYSPLASIA 1 (OMIM:607326)
Gene: DYM
Phenotype: Hypoplasia of the odontoid process (HP:0003311)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Narrow greater sciatic notch (HP:0003375)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYM
Phenotype: Thick oral frenulum (HP:0034414)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Atlantoaxial instability (HP:0003467)
Associated disease: SMITH-MCCORT DYSPLASIA 1 (OMIM:607326)
Gene: DYM
Phenotype: Atlantoaxial instability (HP:0003467)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Irregular epiphyses (HP:0010582)
Associated disease: SMITH-MCCORT DYSPLASIA 1 (OMIM:607326)
Gene: DYM
Phenotype: Fine hair (HP:0002213)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Severe short stature (HP:0003510)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Disproportionate short-trunk short stature (HP:0003521)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Disproportionate short-trunk short stature (HP:0003521)
Associated disease: SMITH-MCCORT DYSPLASIA 1 (OMIM:607326)
Gene: DYM
Phenotype: Disproportionate short-trunk short stature (HP:0003521)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Difficulty standing (HP:0003698)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Frequent falls (HP:0002359)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Multicentric ossification of proximal humeral epiphyses (HP:0004997)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYM
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Rhizomelic arm shortening (HP:0004991)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: SMITH-MCCORT DYSPLASIA 1 (OMIM:607326)
Gene: DYM
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Short metatarsal (HP:0010743)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYM
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYM
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYM
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Broad carpal bones (HP:0004242)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYM
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYM
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYM
Phenotype: Short metacarpal (HP:0010049)
Associated disease: SMITH-MCCORT DYSPLASIA 1 (OMIM:607326)
Gene: DYM
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYM
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Synophrys (HP:0000664)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Short stature (HP:0004322)
Associated disease: SMITH-MCCORT DYSPLASIA 1 (OMIM:607326)
Gene: DYM
Phenotype: Diminished ability to concentrate (HP:0031987)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Limited knee extension (HP:0003066)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYM
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYM
Phenotype: Abnormality of the ankle (HP:0003028)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Short long bone (HP:0003026)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: SMITH-MCCORT DYSPLASIA 1 (OMIM:607326)
Gene: DYM
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Childhood onset (HP:0011463)
Associated disease: SMITH-MCCORT DYSPLASIA 1 (OMIM:607326)
Gene: DYM
Phenotype: Childhood onset (HP:0011463)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Shield chest (HP:0000914)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Flat glenoid fossa (HP:0000911)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Abnormality of the vertebral column (HP:0000925)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Platyspondyly (HP:0000926)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Platyspondyly (HP:0000926)
Associated disease: SMITH-MCCORT DYSPLASIA 1 (OMIM:607326)
Gene: DYM
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Enlargement of the costochondral junction (HP:0000920)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Wide pubic symphysis (HP:0003183)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Wide pubic symphysis (HP:0003183)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYM
Phenotype: Hypoplastic scapulae (HP:0000882)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Hypoplastic scapulae (HP:0000882)
Associated disease: SMITH-MCCORT DYSPLASIA 1 (OMIM:607326)
Gene: DYM
Phenotype: Prominent sternum (HP:0000884)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Prominent sternum (HP:0000884)
Associated disease: SMITH-MCCORT DYSPLASIA 1 (OMIM:607326)
Gene: DYM
Phenotype: Broad ribs (HP:0000885)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Hypoplasia of the capital femoral epiphysis (HP:0003090)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYM
Phenotype: Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Beaking of vertebral bodies (HP:0004568)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Beaking of vertebral bodies (HP:0004568)
Associated disease: SMITH-MCCORT DYSPLASIA 1 (OMIM:607326)
Gene: DYM
Phenotype: Beaking of vertebral bodies (HP:0004568)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYM
Phenotype: Hypoplastic acetabulae (HP:0003274)
Associated disease: SMITH-MCCORT DYSPLASIA 1 (OMIM:607326)
Gene: DYM
Phenotype: Hypoplastic acetabulae (HP:0003274)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Abnormal hip bone morphology (HP:0003272)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Abdominal distention (HP:0003270)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Metaphyseal dysplasia (HP:0100255)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Short thorax (HP:0010306)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Hypoplastic ilia (HP:0000946)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Abnormal pelvis bone morphology (HP:0040163)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: SMITH-MCCORT DYSPLASIA 1 (OMIM:607326)
Gene: DYM
Phenotype: Multicentric ossification of proximal femoral epiphyses (HP:0006450)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Broad femoral neck (HP:0006429)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Abnormality of the vertebral endplates (HP:0005106)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Coxa vara (HP:0002812)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Kyphosis (HP:0002808)
Associated disease: SMITH-MCCORT DYSPLASIA 1 (OMIM:607326)
Gene: DYM
Phenotype: Kyphosis (HP:0002808)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Microcephaly (HP:0000252)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Microcephaly (HP:0000252)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Microcephaly (HP:0000252)
Associated disease: SMITH-MCCORT DYSPLASIA 1 (OMIM:607326)
Gene: DYM
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)