TaoMedAI/RareMedData huggingface dataset:
Gene: MMP1
Phenotype: Anxiety (HP:0000739)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Depression (HP:0000716)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: IgA deposition in the glomerulus (HP:0000794)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Ankyloglossia (HP:0010296)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Osteopenia (HP:0000938)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Abnormal respiratory system morphology (HP:0012252)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Urethral stricture (HP:0012227)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Chronic cutaneous wound (HP:0032676)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Urinary bladder sphincter dysfunction (HP:0002839)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Growth delay (HP:0001510)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Anal fissure (HP:0012390)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Erosion of oral mucosa (HP:0031446)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Genital blistering (HP:0031464)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Mitten deformity (HP:0004057)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Anonychia (HP:0001798)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Iron deficiency anemia (HP:0001891)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Visual loss (HP:0000572)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Chronic pain (HP:0012532)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP2
Phenotype: Split hand (HP:0001171)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Finger swelling (HP:0025131)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
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: MMP2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
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: MMP2
Phenotype: Broad metacarpals (HP:0001230)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Widened metacarpal shaft (HP:0006012)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Interphalangeal joint contracture of finger (HP:0001220)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP2
Phenotype: Thin metacarpal cortices (HP:0006086)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
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: MMP2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP2
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: MMP2
Phenotype: Osteolysis involving tarsal bones (HP:0006234)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
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: MMP2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
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: MMP2
Phenotype: Carpal osteolysis (HP:0001495)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
Phenotype: Metatarsal osteolysis (HP:0001473)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Delayed closure of the anterior fontanelle (HP:0001476)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
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: MMP2
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
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: MMP2
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: MMP2
Phenotype: Interphalangeal joint erosions (HP:0006252)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Thin bony cortex (HP:0002753)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
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: MMP2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
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: MMP2
Phenotype: C1-C2 subluxation (HP:0003320)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP2
Phenotype: Distal tapering of metatarsals (HP:0008133)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
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: MMP2
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Wide cranial sutures (HP:0010537)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Infantile onset (HP:0003593)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
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: MMP2
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
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: MMP2
Phenotype: Hirsutism (HP:0001007)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
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: MMP2
Phenotype: Thickened skin (HP:0001072)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
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: MMP2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP2
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: MMP2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
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: MMP2
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Gene: MMP2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MMP2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MMP2
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: MMP2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)