TaoMedAI/RareMedData huggingface dataset:
Gene: MMP14
Phenotype: Broad metacarpals (HP:0001230)
Associated disease: Torg-Winchester syndrome; MONA spectrum; NAO syndrome; Nodulosis-arthropathy-osteolysis syndrome; Multicentric osteolysis-nodulosis-arthropathy spectrum (ORPHA:371428)
Gene: MMP14
Phenotype: Broad metacarpals (HP:0001230)
Associated disease: WINCHESTER SYNDROME (OMIM:277950)
Gene: MMP14
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP14
Phenotype: Arthritis (HP:0001369)
Associated disease: Torg-Winchester syndrome; MONA spectrum; NAO syndrome; Nodulosis-arthropathy-osteolysis syndrome; Multicentric osteolysis-nodulosis-arthropathy spectrum (ORPHA:371428)
Gene: MMP14
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP14
Phenotype: Osteolysis involving tarsal bones (HP:0006234)
Associated disease: Torg-Winchester syndrome; MONA spectrum; NAO syndrome; Nodulosis-arthropathy-osteolysis syndrome; Multicentric osteolysis-nodulosis-arthropathy spectrum (ORPHA:371428)
Gene: MMP14
Phenotype: Osteolysis involving tarsal bones (HP:0006234)
Associated disease: WINCHESTER SYNDROME (OMIM:277950)
Gene: MMP14
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: Torg-Winchester syndrome; MONA spectrum; NAO syndrome; Nodulosis-arthropathy-osteolysis syndrome; Multicentric osteolysis-nodulosis-arthropathy spectrum (ORPHA:371428)
Gene: MMP14
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP14
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: WINCHESTER SYNDROME (OMIM:277950)
Gene: MMP14
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP14
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP14
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP14
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
Phenotype: Carpal osteolysis (HP:0001495)
Associated disease: Torg-Winchester syndrome; MONA spectrum; NAO syndrome; Nodulosis-arthropathy-osteolysis syndrome; Multicentric osteolysis-nodulosis-arthropathy spectrum (ORPHA:371428)
Gene: MMP14
Phenotype: Carpal osteolysis (HP:0001495)
Associated disease: WINCHESTER SYNDROME (OMIM:277950)
Gene: MMP14
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
Phenotype: Osteolysis (HP:0002797)
Associated disease: Torg-Winchester syndrome; MONA spectrum; NAO syndrome; Nodulosis-arthropathy-osteolysis syndrome; Multicentric osteolysis-nodulosis-arthropathy spectrum (ORPHA:371428)
Gene: MMP14
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: WINCHESTER SYNDROME (OMIM:277950)
Gene: MMP14
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Torg-Winchester syndrome; MONA spectrum; NAO syndrome; Nodulosis-arthropathy-osteolysis syndrome; Multicentric osteolysis-nodulosis-arthropathy spectrum (ORPHA:371428)
Gene: MMP14
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: Torg-Winchester syndrome; MONA spectrum; NAO syndrome; Nodulosis-arthropathy-osteolysis syndrome; Multicentric osteolysis-nodulosis-arthropathy spectrum (ORPHA:371428)
Gene: MMP14
Phenotype: Nodular goiter (HP:0005994)
Associated disease: Torg-Winchester syndrome; MONA spectrum; NAO syndrome; Nodulosis-arthropathy-osteolysis syndrome; Multicentric osteolysis-nodulosis-arthropathy spectrum (ORPHA:371428)
Gene: MMP14
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Torg-Winchester syndrome; MONA spectrum; NAO syndrome; Nodulosis-arthropathy-osteolysis syndrome; Multicentric osteolysis-nodulosis-arthropathy spectrum (ORPHA:371428)
Gene: MMP14
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP14
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
Phenotype: Abnormal hand morphology (HP:0005922)
Associated disease: Torg-Winchester syndrome; MONA spectrum; NAO syndrome; Nodulosis-arthropathy-osteolysis syndrome; Multicentric osteolysis-nodulosis-arthropathy spectrum (ORPHA:371428)
Gene: MMP14
Phenotype: Infantile onset (HP:0003593)
Associated disease: WINCHESTER SYNDROME (OMIM:277950)
Gene: MMP14
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
Phenotype: Pterygium (HP:0001059)
Associated disease: Torg-Winchester syndrome; MONA spectrum; NAO syndrome; Nodulosis-arthropathy-osteolysis syndrome; Multicentric osteolysis-nodulosis-arthropathy spectrum (ORPHA:371428)
Gene: MMP14
Phenotype: Hirsutism (HP:0001007)
Associated disease: WINCHESTER SYNDROME (OMIM:277950)
Gene: MMP14
Phenotype: Hirsutism (HP:0001007)
Associated disease: Torg-Winchester syndrome; MONA spectrum; NAO syndrome; Nodulosis-arthropathy-osteolysis syndrome; Multicentric osteolysis-nodulosis-arthropathy spectrum (ORPHA:371428)
Gene: MMP14
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP14
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: Torg-Winchester syndrome; MONA spectrum; NAO syndrome; Nodulosis-arthropathy-osteolysis syndrome; Multicentric osteolysis-nodulosis-arthropathy spectrum (ORPHA:371428)
Gene: MMP14
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
Phenotype: Papilledema (HP:0001085)
Associated disease: Torg-Winchester syndrome; MONA spectrum; NAO syndrome; Nodulosis-arthropathy-osteolysis syndrome; Multicentric osteolysis-nodulosis-arthropathy spectrum (ORPHA:371428)
Gene: MMP14
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP14
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP14
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP14
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP14
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP14
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Torg-Winchester syndrome; MONA spectrum; NAO syndrome; Nodulosis-arthropathy-osteolysis syndrome; Multicentric osteolysis-nodulosis-arthropathy spectrum (ORPHA:371428)
Gene: MMP14
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP14
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
Phenotype: Localized skin lesion (HP:0011355)
Associated disease: Torg-Winchester syndrome; MONA spectrum; NAO syndrome; Nodulosis-arthropathy-osteolysis syndrome; Multicentric osteolysis-nodulosis-arthropathy spectrum (ORPHA:371428)
Gene: MMP14
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP14
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Torg-Winchester syndrome; MONA spectrum; NAO syndrome; Nodulosis-arthropathy-osteolysis syndrome; Multicentric osteolysis-nodulosis-arthropathy spectrum (ORPHA:371428)
Gene: MMP14
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP14
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP14
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
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: MMP14
Phenotype: Arthropathy (HP:0003040)
Associated disease: WINCHESTER SYNDROME (OMIM:277950)
Gene: MMP14
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
Phenotype: Childhood onset (HP:0011463)
Associated disease: WINCHESTER SYNDROME (OMIM:277950)
Gene: MMP14
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
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: MMP14
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
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: MMP14
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP14
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: MMP14
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP14
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP14
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: MMP14
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: MMP14
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
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: MMP14
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: MMP14
Phenotype: Generalized osteoporosis (HP:0040160)
Associated disease: WINCHESTER SYNDROME (OMIM:277950)
Gene: MMP14
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
Phenotype: Coarse facial features (HP:0000280)
Associated disease: WINCHESTER SYNDROME (OMIM:277950)
Gene: MMP14
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
Phenotype: Kyphosis (HP:0002808)
Associated disease: WINCHESTER SYNDROME (OMIM:277950)
Gene: MMP14
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
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: MMP14
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: WINCHESTER SYNDROME (OMIM:277950)
Gene: MMP14
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP14
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: MMP14
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP14
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP14
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP14
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP14
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: MMP14
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: MMP14
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: MMP14
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: MMP14
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
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: MMP14
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: MMP14
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
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: MMP14
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP14
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: MMP14
Phenotype: Corneal opacity (HP:0007957)
Associated disease: WINCHESTER SYNDROME (OMIM:277950)
Gene: MMP14
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: MMP14
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
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: MMP14
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP14
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP14
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP19
Phenotype: Visual field defect (HP:0001123)
Associated disease: CAVITARY OPTIC DISC ANOMALIES (OMIM:611543)
Gene: MMP19
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAVITARY OPTIC DISC ANOMALIES (OMIM:611543)
Gene: MMP19
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: CAVITARY OPTIC DISC ANOMALIES (OMIM:611543)
Gene: MMP19
Phenotype: Peripapillary atrophy (HP:0500087)
Associated disease: CAVITARY OPTIC DISC ANOMALIES (OMIM:611543)
Gene: MMP19
Phenotype: Nyctalopia (HP:0000662)
Associated disease: CAVITARY OPTIC DISC ANOMALIES (OMIM:611543)
Gene: ALDH6A1
Phenotype: Elevated urinary 3-hydroxyisobutyric acid level (HP:6000607)
Associated disease: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:614105)
Gene: ALDH6A1
Phenotype: Hypotonia (HP:0001252)
Associated disease: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:614105)
Gene: ALDH6A1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:614105)
Gene: ALDH6A1
Phenotype: Dystonia (HP:0001332)
Associated disease: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:614105)
Gene: ALDH6A1
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:614105)
Gene: ALDH6A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:614105)
Gene: ALDH6A1
Phenotype: Methylmalonic aciduria (HP:0012120)
Associated disease: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:614105)
Gene: ALDH6A1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:614105)
Gene: ALDH6A1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:614105)
Gene: ALDH6A1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:614105)
Gene: ALDH6A1
Phenotype: Reduced methylmalonate semialdehyde dehydrogenase activity in cultured fibroblasts (HP:6000219)
Associated disease: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:614105)
Gene: ALDH6A1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:614105)
Gene: ALDH6A1
Phenotype: Infantile onset (HP:0003593)
Associated disease: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:614105)
Gene: ALDH6A1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:614105)
Gene: ALDH6A1
Phenotype: Beta-alaninuria (HP:0020079)
Associated disease: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:614105)
Gene: ALDH6A1
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:614105)
Gene: ALDH6A1
Phenotype: Periventricular heterotopia (HP:0007165)
Associated disease: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:614105)
Gene: ALDH6A1
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:614105)
Gene: ALDH6A1
Phenotype: Broad hallux (HP:0010055)
Associated disease: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:614105)
Gene: ALDH6A1
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:614105)
Gene: ALDH6A1
Phenotype: Short nose (HP:0003196)
Associated disease: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:614105)
Gene: ALDH6A1
Phenotype: Elevated urinary 3-aminoisobutyric acid (HP:0045034)
Associated disease: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:614105)
Gene: ALDH6A1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:614105)
Gene: ALDH6A1
Phenotype: Sparse hair (HP:0008070)
Associated disease: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:614105)
Gene: ALDH6A1
Phenotype: Elevated urinary 3-hydroxybutyric acid (HP:0040155)
Associated disease: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:614105)