TaoMedAI/RareMedData huggingface dataset:
Gene: ROR2
Phenotype: Anonychia (HP:0001798)
Associated disease: BRACHYDACTYLY, TYPE B1 (OMIM:113000)
Gene: ROR2
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: ROR2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ROR2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ROR2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: ROR2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 (OMIM:268310)
Gene: ROR2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ROR2
Phenotype: Long eyelashes (HP:0000527)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: ROR2
Phenotype: Long eyelashes (HP:0000527)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 (OMIM:268310)
Gene: ROR2
Phenotype: Sandal gap (HP:0001852)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: ROR2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ROR2
Phenotype: Proptosis (HP:0000520)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: ROR2
Phenotype: Proptosis (HP:0000520)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 (OMIM:268310)
Gene: ROR2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ROR2
Phenotype: Bifid distal phalanx of toe (HP:0001853)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 (OMIM:268310)
Gene: ROR2
Phenotype: Broad toe (HP:0001837)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 (OMIM:268310)
Gene: ROR2
Phenotype: Ptosis (HP:0000508)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: ROR2
Phenotype: Ptosis (HP:0000508)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 (OMIM:268310)
Gene: ROR2
Phenotype: Hypoplastic fingernail (HP:0001804)
Associated disease: BRACHYDACTYLY, TYPE B1 (OMIM:113000)
Gene: ROR2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: ROR2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 (OMIM:268310)
Gene: ROR2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ROR2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: ROR2
Phenotype: Prominent forehead (HP:0011220)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 (OMIM:268310)
Gene: ROR2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ROR2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDR2
Phenotype: Broad palm (HP:0001169)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Enlarged naris (HP:0009931)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Triangular shaped distal phalanges of the hand (HP:0009875)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDR2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDR2
Phenotype: Motor delay (HP:0001270)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Hypotonia (HP:0001252)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Broad metacarpals (HP:0001230)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: WARBURG-CINOTTI SYNDROME (OMIM:618175)
Gene: DDR2
Phenotype: Broad phalanx (HP:0006009)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDR2
Phenotype: Joint swelling (HP:0001386)
Associated disease: WARBURG-CINOTTI SYNDROME (OMIM:618175)
Gene: DDR2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDR2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Follicular hyperkeratosis (HP:0007502)
Associated disease: WARBURG-CINOTTI SYNDROME (OMIM:618175)
Gene: DDR2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDR2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WARBURG-CINOTTI SYNDROME (OMIM:618175)
Gene: DDR2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDR2
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDR2
Phenotype: Spondyloepimetaphyseal dysplasia (HP:0002651)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDR2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Tracheal calcification (HP:0002787)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Hypoplasia of the odontoid process (HP:0003311)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: C1-C2 subluxation (HP:0003320)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: WARBURG-CINOTTI SYNDROME (OMIM:618175)
Gene: DDR2
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Syringomyelia (HP:0003396)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDR2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Calcification of cartilage (HP:0100593)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Atlantoaxial instability (HP:0003467)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Pneumothorax (HP:0002107)
Associated disease: WARBURG-CINOTTI SYNDROME (OMIM:618175)
Gene: DDR2
Phenotype: Spinal cord compression (HP:0002176)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Hypoplasia of the ear cartilage (HP:0100720)
Associated disease: WARBURG-CINOTTI SYNDROME (OMIM:618175)
Gene: DDR2
Phenotype: Epiphyseal stippling (HP:0010655)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Symblepharon (HP:0430007)
Associated disease: WARBURG-CINOTTI SYNDROME (OMIM:618175)
Gene: DDR2
Phenotype: Poor wound healing (HP:0001058)
Associated disease: WARBURG-CINOTTI SYNDROME (OMIM:618175)
Gene: DDR2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDR2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Erythema (HP:0010783)
Associated disease: WARBURG-CINOTTI SYNDROME (OMIM:618175)
Gene: DDR2
Phenotype: Cholesteatoma (HP:0009797)
Associated disease: WARBURG-CINOTTI SYNDROME (OMIM:618175)
Gene: DDR2
Phenotype: Decreased corneal thickness (HP:0100689)
Associated disease: WARBURG-CINOTTI SYNDROME (OMIM:618175)
Gene: DDR2
Phenotype: Osteolytic defects of the phalanges of the hand (HP:0009771)
Associated disease: WARBURG-CINOTTI SYNDROME (OMIM:618175)
Gene: DDR2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDR2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDR2
Phenotype: Limbal stem cell deficiency (HP:0032107)
Associated disease: WARBURG-CINOTTI SYNDROME (OMIM:618175)
Gene: DDR2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDR2
Phenotype: Short palm (HP:0004279)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDR2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDR2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDR2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Dental crowding (HP:0000678)
Associated disease: WARBURG-CINOTTI SYNDROME (OMIM:618175)
Gene: DDR2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDR2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Broad long bones (HP:0005622)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Antenatal onset (HP:0030674)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Long fibula (HP:0003085)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDR2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDR2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Short long bone (HP:0003026)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Corneal neovascularization (HP:0011496)
Associated disease: WARBURG-CINOTTI SYNDROME (OMIM:618175)
Gene: DDR2
Phenotype: Abnormal calcification of the carpal bones (HP:0009164)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Flexion contracture of finger (HP:0012785)
Associated disease: WARBURG-CINOTTI SYNDROME (OMIM:618175)
Gene: DDR2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Narrow chest (HP:0000774)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Short ribs (HP:0000773)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Short nose (HP:0003196)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Posterior rib cupping (HP:0000922)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Anterior rib cupping (HP:0000907)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDR2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDR2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDR2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Thin skin (HP:0000963)
Associated disease: WARBURG-CINOTTI SYNDROME (OMIM:618175)
Gene: DDR2
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: WARBURG-CINOTTI SYNDROME (OMIM:618175)
Gene: DDR2
Phenotype: Short finger (HP:0009381)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Epicanthus (HP:0000286)
Associated disease: WARBURG-CINOTTI SYNDROME (OMIM:618175)
Gene: DDR2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Broad face (HP:0000283)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Bell-shaped thorax (HP:0001591)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Long face (HP:0000276)
Associated disease: WARBURG-CINOTTI SYNDROME (OMIM:618175)
Gene: DDR2
Phenotype: Malar flattening (HP:0000272)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: WARBURG-CINOTTI SYNDROME (OMIM:618175)
Gene: DDR2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: High palate (HP:0000218)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: High palate (HP:0000218)
Associated disease: WARBURG-CINOTTI SYNDROME (OMIM:618175)
Gene: DDR2
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: WARBURG-CINOTTI SYNDROME (OMIM:618175)
Gene: DDR2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDR2
Phenotype: Flared iliac wing (HP:0002869)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDR2
Phenotype: Hip subluxation (HP:0030043)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDR2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Thoracic hypoplasia (HP:0005257)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDR2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: WARBURG-CINOTTI SYNDROME (OMIM:618175)
Gene: DDR2
Phenotype: Low-set ears (HP:0000369)
Associated disease: WARBURG-CINOTTI SYNDROME (OMIM:618175)
Gene: DDR2
Phenotype: Long philtrum (HP:0000343)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDR2
Phenotype: Micrognathia (HP:0000347)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Micromelia (HP:0002983)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Bowing of the legs (HP:0002979)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Sterile abscess (HP:0025616)
Associated disease: WARBURG-CINOTTI SYNDROME (OMIM:618175)
Gene: DDR2
Phenotype: Short chin (HP:0000331)
Associated disease: WARBURG-CINOTTI SYNDROME (OMIM:618175)
Gene: DDR2
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: WARBURG-CINOTTI SYNDROME (OMIM:618175)
Gene: DDR2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DDR2
Phenotype: Progressive calcification of costochondral cartilage (HP:0006600)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: WARBURG-CINOTTI SYNDROME (OMIM:618175)
Gene: DDR2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Gene: DDR2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DDR2
Phenotype: Narrow nose (HP:0000460)
Associated disease: WARBURG-CINOTTI SYNDROME (OMIM:618175)