TaoMedAI/RareMedData huggingface dataset:
Gene: MMP2
Phenotype: Short stature (HP:0004322)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
Phenotype: Arthropathy (HP:0003040)
Associated disease: Torg-Winchester syndrome; MONA spectrum; NAO syndrome; Nodulosis-arthropathy-osteolysis syndrome; Multicentric osteolysis-nodulosis-arthropathy spectrum (ORPHA:371428)
Gene: MMP2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
Phenotype: Childhood onset (HP:0011463)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
Phenotype: Osteolysis involving bones of the lower limbs (HP:0009139)
Associated disease: Torg-Winchester syndrome; MONA spectrum; NAO syndrome; Nodulosis-arthropathy-osteolysis syndrome; Multicentric osteolysis-nodulosis-arthropathy spectrum (ORPHA:371428)
Gene: MMP2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
Phenotype: Broad clavicles (HP:0000916)
Associated disease: Torg-Winchester syndrome; MONA spectrum; NAO syndrome; Nodulosis-arthropathy-osteolysis syndrome; Multicentric osteolysis-nodulosis-arthropathy spectrum (ORPHA:371428)
Gene: MMP2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
Phenotype: Protrusio acetabuli (HP:0003179)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP2
Phenotype: Hypertension (HP:0000822)
Associated disease: Torg-Winchester syndrome; MONA spectrum; NAO syndrome; Nodulosis-arthropathy-osteolysis syndrome; Multicentric osteolysis-nodulosis-arthropathy spectrum (ORPHA:371428)
Gene: MMP2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP2
Phenotype: Osteolysis involving bones of the upper limbs (HP:0045039)
Associated disease: Torg-Winchester syndrome; MONA spectrum; NAO syndrome; Nodulosis-arthropathy-osteolysis syndrome; Multicentric osteolysis-nodulosis-arthropathy spectrum (ORPHA:371428)
Gene: MMP2
Phenotype: Hip contracture (HP:0003273)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Peripheral opacification of the cornea (HP:0008011)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Premature thelarche (HP:0010314)
Associated disease: Torg-Winchester syndrome; MONA spectrum; NAO syndrome; Nodulosis-arthropathy-osteolysis syndrome; Multicentric osteolysis-nodulosis-arthropathy spectrum (ORPHA:371428)
Gene: MMP2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Torg-Winchester syndrome; MONA spectrum; NAO syndrome; Nodulosis-arthropathy-osteolysis syndrome; Multicentric osteolysis-nodulosis-arthropathy spectrum (ORPHA:371428)
Gene: MMP2
Phenotype: Osteoporosis (HP:0000939)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Osteopenia (HP:0000938)
Associated disease: Torg-Winchester syndrome; MONA spectrum; NAO syndrome; Nodulosis-arthropathy-osteolysis syndrome; Multicentric osteolysis-nodulosis-arthropathy spectrum (ORPHA:371428)
Gene: MMP2
Phenotype: Osteopenia (HP:0000938)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Ankylosis of feet small joints (HP:0008090)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Thin metatarsal cortices (HP:0008078)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Arthralgia (HP:0002829)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Torg-Winchester syndrome; MONA spectrum; NAO syndrome; Nodulosis-arthropathy-osteolysis syndrome; Multicentric osteolysis-nodulosis-arthropathy spectrum (ORPHA:371428)
Gene: MMP2
Phenotype: Brachycephaly (HP:0000248)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP2
Phenotype: Omphalocele (HP:0001539)
Associated disease: Torg-Winchester syndrome; MONA spectrum; NAO syndrome; Nodulosis-arthropathy-osteolysis syndrome; Multicentric osteolysis-nodulosis-arthropathy spectrum (ORPHA:371428)
Gene: MMP2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP2
Phenotype: Metacarpal osteolysis (HP:0001504)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP2
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Torg-Winchester syndrome; MONA spectrum; NAO syndrome; Nodulosis-arthropathy-osteolysis syndrome; Multicentric osteolysis-nodulosis-arthropathy spectrum (ORPHA:371428)
Gene: MMP2
Phenotype: Atrioventricular block (HP:0001678)
Associated disease: Torg-Winchester syndrome; MONA spectrum; NAO syndrome; Nodulosis-arthropathy-osteolysis syndrome; Multicentric osteolysis-nodulosis-arthropathy spectrum (ORPHA:371428)
Gene: MMP2
Phenotype: Micrognathia (HP:0000347)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: Torg-Winchester syndrome; MONA spectrum; NAO syndrome; Nodulosis-arthropathy-osteolysis syndrome; Multicentric osteolysis-nodulosis-arthropathy spectrum (ORPHA:371428)
Gene: MMP2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Abnormality of the orbital region (HP:0000315)
Associated disease: Torg-Winchester syndrome; MONA spectrum; NAO syndrome; Nodulosis-arthropathy-osteolysis syndrome; Multicentric osteolysis-nodulosis-arthropathy spectrum (ORPHA:371428)
Gene: MMP2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Torg-Winchester syndrome; MONA spectrum; NAO syndrome; Nodulosis-arthropathy-osteolysis syndrome; Multicentric osteolysis-nodulosis-arthropathy spectrum (ORPHA:371428)
Gene: MMP2
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: Torg-Winchester syndrome; MONA spectrum; NAO syndrome; Nodulosis-arthropathy-osteolysis syndrome; Multicentric osteolysis-nodulosis-arthropathy spectrum (ORPHA:371428)
Gene: MMP2
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Torg-Winchester syndrome; MONA spectrum; NAO syndrome; Nodulosis-arthropathy-osteolysis syndrome; Multicentric osteolysis-nodulosis-arthropathy spectrum (ORPHA:371428)
Gene: MMP2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP2
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Torg-Winchester syndrome; MONA spectrum; NAO syndrome; Nodulosis-arthropathy-osteolysis syndrome; Multicentric osteolysis-nodulosis-arthropathy spectrum (ORPHA:371428)
Gene: MMP2
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Corneal opacity (HP:0007957)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: Torg-Winchester syndrome; MONA spectrum; NAO syndrome; Nodulosis-arthropathy-osteolysis syndrome; Multicentric osteolysis-nodulosis-arthropathy spectrum (ORPHA:371428)
Gene: MMP2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
Phenotype: Pes planus (HP:0001763)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
Phenotype: Broad metatarsal (HP:0001783)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Bulbous nose (HP:0000414)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Pes cavus (HP:0001761)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Sclerotic cranial sutures (HP:0005441)
Associated disease: Torg-Winchester syndrome; MONA spectrum; NAO syndrome; Nodulosis-arthropathy-osteolysis syndrome; Multicentric osteolysis-nodulosis-arthropathy spectrum (ORPHA:371428)
Gene: MMP2
Phenotype: Sclerotic cranial sutures (HP:0005441)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP2
Phenotype: Proptosis (HP:0000520)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
Phenotype: Camptodactyly of toe (HP:0001836)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP9
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP9
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP9
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Short femoral neck (HP:0100864)
Associated disease: METAPHYSEAL ANADYSPLASIA 2 (OMIM:613073)
Gene: MMP9
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP9
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Regressive metaphyseal dysplasia; Maroteaux-Verloes-Stanescu syndrome; Metaphyseal anadysplasia (ORPHA:1040)
Gene: MMP9
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP9
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP9
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: METAPHYSEAL ANADYSPLASIA 2 (OMIM:613073)
Gene: MMP9
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP9
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP9
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP9
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP9
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Regressive metaphyseal dysplasia; Maroteaux-Verloes-Stanescu syndrome; Metaphyseal anadysplasia (ORPHA:1040)
Gene: MMP9
Phenotype: Infantile onset (HP:0003593)
Associated disease: METAPHYSEAL ANADYSPLASIA 2 (OMIM:613073)
Gene: MMP9
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP9
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP9
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP9
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP9
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP9
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP9
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP9
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP9
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Short stature (HP:0004322)
Associated disease: Regressive metaphyseal dysplasia; Maroteaux-Verloes-Stanescu syndrome; Metaphyseal anadysplasia (ORPHA:1040)
Gene: MMP9
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP9
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP9
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: METAPHYSEAL ANADYSPLASIA 2 (OMIM:613073)
Gene: MMP9
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: METAPHYSEAL ANADYSPLASIA 2 (OMIM:613073)
Gene: MMP9
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP9
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP9
Phenotype: Abnormal morphology of ulna (HP:0040071)
Associated disease: Regressive metaphyseal dysplasia; Maroteaux-Verloes-Stanescu syndrome; Metaphyseal anadysplasia (ORPHA:1040)
Gene: MMP9
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP9
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Regressive metaphyseal dysplasia; Maroteaux-Verloes-Stanescu syndrome; Metaphyseal anadysplasia (ORPHA:1040)
Gene: MMP9
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Abnormality of the lower limb (HP:0002814)
Associated disease: Regressive metaphyseal dysplasia; Maroteaux-Verloes-Stanescu syndrome; Metaphyseal anadysplasia (ORPHA:1040)
Gene: MMP9
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP9
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP9
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Aplasia/Hypoplasia of the radius (HP:0006501)
Associated disease: Regressive metaphyseal dysplasia; Maroteaux-Verloes-Stanescu syndrome; Metaphyseal anadysplasia (ORPHA:1040)
Gene: MMP9
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP9
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP9
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Regressive metaphyseal dysplasia; Maroteaux-Verloes-Stanescu syndrome; Metaphyseal anadysplasia (ORPHA:1040)
Gene: MMP9
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)