TaoMedAI/RareMedData huggingface dataset:
Gene: MMP9
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP9
Phenotype: Micromelia (HP:0002983)
Associated disease: METAPHYSEAL ANADYSPLASIA 2 (OMIM:613073)
Gene: MMP9
Phenotype: Bowing of the legs (HP:0002979)
Associated disease: METAPHYSEAL ANADYSPLASIA 2 (OMIM:613073)
Gene: MMP9
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Genu varum (HP:0002970)
Associated disease: METAPHYSEAL ANADYSPLASIA 2 (OMIM:613073)
Gene: MMP9
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP9
Phenotype: Abnormal ulnar metaphysis morphology (HP:0004039)
Associated disease: Regressive metaphyseal dysplasia; Maroteaux-Verloes-Stanescu syndrome; Metaphyseal anadysplasia (ORPHA:1040)
Gene: MMP9
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP9
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP13
Phenotype: Osteochondritis dissecans (HP:0010886)
Associated disease: METAPHYSEAL DYSPLASIA, SPAHR TYPE (OMIM:250400)
Gene: MMP13
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP13
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP13
Phenotype: Motor delay (HP:0001270)
Associated disease: METAPHYSEAL DYSPLASIA, SPAHR TYPE (OMIM:250400)
Gene: MMP13
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Metaphyseal chondrodysplasia, Spahr type (ORPHA:2501)
Gene: MMP13
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP13
Phenotype: Waddling gait (HP:0002515)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE (OMIM:602111)
Gene: MMP13
Phenotype: Waddling gait (HP:0002515)
Associated disease: METAPHYSEAL DYSPLASIA, SPAHR TYPE (OMIM:250400)
Gene: MMP13
Phenotype: Thick growth plates (HP:0025369)
Associated disease: SEMD type 2; Spondyloepimetaphyseal dysplasia type 2; Spondyloepimetaphyseal dysplasia, Missouri type; SEMD, Missouri type (ORPHA:93356)
Gene: MMP13
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE (OMIM:602111)
Gene: MMP13
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Metaphyseal chondrodysplasia, Spahr type (ORPHA:2501)
Gene: MMP13
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Regressive metaphyseal dysplasia; Maroteaux-Verloes-Stanescu syndrome; Metaphyseal anadysplasia (ORPHA:1040)
Gene: MMP13
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP13
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP13
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: METAPHYSEAL DYSPLASIA, SPAHR TYPE (OMIM:250400)
Gene: MMP13
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP13
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE (OMIM:602111)
Gene: MMP13
Phenotype: Scoliosis (HP:0002650)
Associated disease: Metaphyseal chondrodysplasia, Spahr type (ORPHA:2501)
Gene: MMP13
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP13
Phenotype: Spondyloepimetaphyseal dysplasia (HP:0002651)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE (OMIM:602111)
Gene: MMP13
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP13
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Rhizomelia (HP:0008905)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE (OMIM:602111)
Gene: MMP13
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Metaphyseal chondrodysplasia, Spahr type (ORPHA:2501)
Gene: MMP13
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE (OMIM:602111)
Gene: MMP13
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE (OMIM:602111)
Gene: MMP13
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Metaphyseal chondrodysplasia, Spahr type (ORPHA:2501)
Gene: MMP13
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Metaphyseal chondrodysplasia, Spahr type (ORPHA:2501)
Gene: MMP13
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP13
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Regressive metaphyseal dysplasia; Maroteaux-Verloes-Stanescu syndrome; Metaphyseal anadysplasia (ORPHA:1040)
Gene: MMP13
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Metaphyseal chondrodysplasia, Spahr type (ORPHA:2501)
Gene: MMP13
Phenotype: Disproportionate short stature (HP:0003498)
Associated disease: SEMD type 2; Spondyloepimetaphyseal dysplasia type 2; Spondyloepimetaphyseal dysplasia, Missouri type; SEMD, Missouri type (ORPHA:93356)
Gene: MMP13
Phenotype: Disproportionate short stature (HP:0003498)
Associated disease: METAPHYSEAL DYSPLASIA, SPAHR TYPE (OMIM:250400)
Gene: MMP13
Phenotype: Disproportionate short stature (HP:0003498)
Associated disease: Metaphyseal chondrodysplasia, Spahr type (ORPHA:2501)
Gene: MMP13
Phenotype: Small epiphyses (HP:0010585)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE (OMIM:602111)
Gene: MMP13
Phenotype: Small epiphyses (HP:0010585)
Associated disease: SEMD type 2; Spondyloepimetaphyseal dysplasia type 2; Spondyloepimetaphyseal dysplasia, Missouri type; SEMD, Missouri type (ORPHA:93356)
Gene: MMP13
Phenotype: Infantile onset (HP:0003593)
Associated disease: METAPHYSEAL DYSPLASIA, SPAHR TYPE (OMIM:250400)
Gene: MMP13
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Metaphyseal sclerosis (HP:0004979)
Associated disease: METAPHYSEAL DYSPLASIA, SPAHR TYPE (OMIM:250400)
Gene: MMP13
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP13
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Irregular sclerotic endplates (HP:0008476)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE (OMIM:602111)
Gene: MMP13
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP13
Phenotype: Juvenile onset (HP:0003621)
Associated disease: METAPHYSEAL DYSPLASIA, SPAHR TYPE (OMIM:250400)
Gene: MMP13
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP13
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP13
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP13
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP13
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP13
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP13
Phenotype: Carious teeth (HP:0000670)
Associated disease: Metaphyseal chondrodysplasia, Spahr type (ORPHA:2501)
Gene: MMP13
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Short stature (HP:0004322)
Associated disease: Regressive metaphyseal dysplasia; Maroteaux-Verloes-Stanescu syndrome; Metaphyseal anadysplasia (ORPHA:1040)
Gene: MMP13
Phenotype: Short stature (HP:0004322)
Associated disease: METAPHYSEAL DYSPLASIA, SPAHR TYPE (OMIM:250400)
Gene: MMP13
Phenotype: Flattened epiphysis (HP:0003071)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE (OMIM:602111)
Gene: MMP13
Phenotype: Flattened epiphysis (HP:0003071)
Associated disease: SEMD type 2; Spondyloepimetaphyseal dysplasia type 2; Spondyloepimetaphyseal dysplasia, Missouri type; SEMD, Missouri type (ORPHA:93356)
Gene: MMP13
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP13
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP13
Phenotype: Ulnar bowing (HP:0003031)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE (OMIM:602111)
Gene: MMP13
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE (OMIM:602111)
Gene: MMP13
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: SEMD type 2; Spondyloepimetaphyseal dysplasia type 2; Spondyloepimetaphyseal dysplasia, Missouri type; SEMD, Missouri type (ORPHA:93356)
Gene: MMP13
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: METAPHYSEAL DYSPLASIA, SPAHR TYPE (OMIM:250400)
Gene: MMP13
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: SEMD type 2; Spondyloepimetaphyseal dysplasia type 2; Spondyloepimetaphyseal dysplasia, Missouri type; SEMD, Missouri type (ORPHA:93356)
Gene: MMP13
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Metaphyseal cupping (HP:0003021)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE (OMIM:602111)
Gene: MMP13
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Metaphyseal chondrodysplasia, Spahr type (ORPHA:2501)
Gene: MMP13
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Platyspondyly (HP:0000926)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE (OMIM:602111)
Gene: MMP13
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP13
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP13
Phenotype: Abnormal morphology of ulna (HP:0040071)
Associated disease: Regressive metaphyseal dysplasia; Maroteaux-Verloes-Stanescu syndrome; Metaphyseal anadysplasia (ORPHA:1040)
Gene: MMP13
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Pear-shaped vertebrae (HP:0004566)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE (OMIM:602111)
Gene: MMP13
Phenotype: Pear-shaped vertebrae (HP:0004566)
Associated disease: SEMD type 2; Spondyloepimetaphyseal dysplasia type 2; Spondyloepimetaphyseal dysplasia, Missouri type; SEMD, Missouri type (ORPHA:93356)
Gene: MMP13
Phenotype: Metaphyseal chondrodysplasia (HP:0005871)
Associated disease: METAPHYSEAL DYSPLASIA, SPAHR TYPE (OMIM:250400)
Gene: MMP13
Phenotype: Metaphyseal chondrodysplasia (HP:0005871)
Associated disease: Metaphyseal chondrodysplasia, Spahr type (ORPHA:2501)
Gene: MMP13
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP13
Phenotype: Knee pain (HP:0030839)
Associated disease: METAPHYSEAL DYSPLASIA, SPAHR TYPE (OMIM:250400)
Gene: MMP13
Phenotype: Metaphyseal dysplasia (HP:0100255)
Associated disease: METAPHYSEAL DYSPLASIA, SPAHR TYPE (OMIM:250400)
Gene: MMP13
Phenotype: Metaphyseal dysplasia (HP:0100255)
Associated disease: Metaphyseal chondrodysplasia, Spahr type (ORPHA:2501)
Gene: MMP13
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Regressive metaphyseal dysplasia; Maroteaux-Verloes-Stanescu syndrome; Metaphyseal anadysplasia (ORPHA:1040)
Gene: MMP13
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Metaphyseal chondrodysplasia, Spahr type (ORPHA:2501)
Gene: MMP13
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Progressive leg bowing (HP:0006409)
Associated disease: METAPHYSEAL DYSPLASIA, SPAHR TYPE (OMIM:250400)
Gene: MMP13
Phenotype: Progressive leg bowing (HP:0006409)
Associated disease: Metaphyseal chondrodysplasia, Spahr type (ORPHA:2501)
Gene: MMP13
Phenotype: Abnormality of the lower limb (HP:0002814)
Associated disease: Regressive metaphyseal dysplasia; Maroteaux-Verloes-Stanescu syndrome; Metaphyseal anadysplasia (ORPHA:1040)
Gene: MMP13
Phenotype: Coxa vara (HP:0002812)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE (OMIM:602111)
Gene: MMP13
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Knee osteoarthritis (HP:0005086)
Associated disease: SEMD type 2; Spondyloepimetaphyseal dysplasia type 2; Spondyloepimetaphyseal dysplasia, Missouri type; SEMD, Missouri type (ORPHA:93356)
Gene: MMP13
Phenotype: Short lower limbs (HP:0006385)
Associated disease: METAPHYSEAL DYSPLASIA, SPAHR TYPE (OMIM:250400)
Gene: MMP13
Phenotype: Short lower limbs (HP:0006385)
Associated disease: SEMD type 2; Spondyloepimetaphyseal dysplasia type 2; Spondyloepimetaphyseal dysplasia, Missouri type; SEMD, Missouri type (ORPHA:93356)
Gene: MMP13
Phenotype: Short lower limbs (HP:0006385)
Associated disease: Metaphyseal chondrodysplasia, Spahr type (ORPHA:2501)
Gene: MMP13
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP13
Phenotype: Genu valgum (HP:0002857)
Associated disease: METAPHYSEAL DYSPLASIA, SPAHR TYPE (OMIM:250400)
Gene: MMP13
Phenotype: Flared iliac wing (HP:0002869)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE (OMIM:602111)
Gene: MMP13
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP13
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Aplasia/Hypoplasia of the radius (HP:0006501)
Associated disease: Regressive metaphyseal dysplasia; Maroteaux-Verloes-Stanescu syndrome; Metaphyseal anadysplasia (ORPHA:1040)
Gene: MMP13
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP13
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Regressive metaphyseal dysplasia; Maroteaux-Verloes-Stanescu syndrome; Metaphyseal anadysplasia (ORPHA:1040)
Gene: MMP13
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Metaphyseal chondrodysplasia, Spahr type (ORPHA:2501)
Gene: MMP13
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP13
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP13
Phenotype: Tibial bowing (HP:0002982)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE (OMIM:602111)
Gene: MMP13
Phenotype: Tibial bowing (HP:0002982)
Associated disease: SEMD type 2; Spondyloepimetaphyseal dysplasia type 2; Spondyloepimetaphyseal dysplasia, Missouri type; SEMD, Missouri type (ORPHA:93356)
Gene: MMP13
Phenotype: Femoral bowing (HP:0002980)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE (OMIM:602111)
Gene: MMP13
Phenotype: Femoral bowing (HP:0002980)
Associated disease: SEMD type 2; Spondyloepimetaphyseal dysplasia type 2; Spondyloepimetaphyseal dysplasia, Missouri type; SEMD, Missouri type (ORPHA:93356)
Gene: MMP13
Phenotype: Bowing of the legs (HP:0002979)
Associated disease: METAPHYSEAL DYSPLASIA, SPAHR TYPE (OMIM:250400)
Gene: MMP13
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Radial bowing (HP:0002986)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE (OMIM:602111)
Gene: MMP13
Phenotype: Genu varum (HP:0002970)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE (OMIM:602111)
Gene: MMP13
Phenotype: Genu varum (HP:0002970)
Associated disease: SEMD type 2; Spondyloepimetaphyseal dysplasia type 2; Spondyloepimetaphyseal dysplasia, Missouri type; SEMD, Missouri type (ORPHA:93356)
Gene: MMP13
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Genu varum (HP:0002970)
Associated disease: Metaphyseal chondrodysplasia, Spahr type (ORPHA:2501)
Gene: MMP13
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP13
Phenotype: Flared, irregular rib ends (HP:0006603)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE (OMIM:602111)
Gene: MMP13
Phenotype: Abnormal ulnar metaphysis morphology (HP:0004039)
Associated disease: Regressive metaphyseal dysplasia; Maroteaux-Verloes-Stanescu syndrome; Metaphyseal anadysplasia (ORPHA:1040)
Gene: MMP13
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP13
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP13
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP14
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP14
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP14
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Torg-Winchester syndrome; MONA spectrum; NAO syndrome; Nodulosis-arthropathy-osteolysis syndrome; Multicentric osteolysis-nodulosis-arthropathy spectrum (ORPHA:371428)
Gene: MMP14
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)