TaoMedAI/RareMedData huggingface dataset:
Gene: BMP1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP1
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XIII (OMIM:614856)
Gene: BMP1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XIII (OMIM:614856)
Gene: BMP1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP1
Phenotype: Dentinogenesis imperfecta (HP:0000703)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XIII (OMIM:614856)
Gene: BMP1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP1
Phenotype: Fetal onset (HP:0011461)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: BMP1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP1
Phenotype: Diaphragmatic eventration (HP:0009110)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: BMP1
Phenotype: Short nose (HP:0003196)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: BMP1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XIII (OMIM:614856)
Gene: BMP1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: BMP1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: BMP1
Phenotype: Wide pubic symphysis (HP:0003183)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XIII (OMIM:614856)
Gene: BMP1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMP1
Phenotype: Hypoplasia of the capital femoral epiphysis (HP:0003090)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: BMP1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMP1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP1
Phenotype: Severe platyspondyly (HP:0004565)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: BMP1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMP1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XIII (OMIM:614856)
Gene: BMP1
Phenotype: Biconcave vertebral bodies (HP:0004586)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: BMP1
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: BMP1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XIII (OMIM:614856)
Gene: BMP1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: BMP1
Phenotype: Osteopenia (HP:0000938)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: BMP1
Phenotype: Osteopenia (HP:0000938)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: BMP1
Phenotype: Absent anterior chamber of the eye (HP:0008037)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: BMP1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP1
Phenotype: Malar flattening (HP:0000272)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: BMP1
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: BMP1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP1
Phenotype: Kyphosis (HP:0002808)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: BMP1
Phenotype: Wide distal femoral metaphysis (HP:0006387)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XIII (OMIM:614856)
Gene: BMP1
Phenotype: Microcephaly (HP:0000252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: BMP1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP1
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: BMP1
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XIII (OMIM:614856)
Gene: BMP1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMP1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XIII (OMIM:614856)
Gene: BMP1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMP1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: BMP1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMP1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP1
Phenotype: Flat face (HP:0012368)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: BMP1
Phenotype: Exudative retinopathy (HP:0007898)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: BMP1
Phenotype: Congenital blindness (HP:0007875)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: BMP1
Phenotype: Retinal calcification (HP:0007862)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: BMP1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMP1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XIII (OMIM:614856)
Gene: BMP1
Phenotype: Low-set ears (HP:0000369)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: BMP1
Phenotype: Long philtrum (HP:0000343)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XIII (OMIM:614856)
Gene: BMP1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMP1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XIII (OMIM:614856)
Gene: BMP1
Phenotype: Broad forehead (HP:0000337)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XIII (OMIM:614856)
Gene: BMP1
Phenotype: Tibial bowing (HP:0002982)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: BMP1
Phenotype: Femoral bowing (HP:0002980)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XIII (OMIM:614856)
Gene: BMP1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP1
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: BMP1
Phenotype: Triangular face (HP:0000325)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XIII (OMIM:614856)
Gene: BMP1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: BMP1
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: BMP1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP1
Phenotype: Pointed chin (HP:0000307)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: BMP1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMP1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: BMP1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: BMP1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP1
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: BMP1
Phenotype: Protruding ear (HP:0000411)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XIII (OMIM:614856)
Gene: BMP1
Phenotype: Cataract (HP:0000518)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: BMP1
Phenotype: Cataract (HP:0000518)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: BMP1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP1
Phenotype: Long eyelashes (HP:0000527)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XIII (OMIM:614856)
Gene: BMP1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMP1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XIII (OMIM:614856)
Gene: BMP1
Phenotype: Shallow orbits (HP:0000586)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: BMP1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: BMP1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMP1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: BMP1
Phenotype: Myopia (HP:0000545)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: BMP2
Phenotype: Microtia (HP:0008551)
Associated disease: 20p12.3 microdeletion syndrome; Del(20)(p12.3); Monosomy 20p12.3 (ORPHA:261295)
Gene: BMP2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMP2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMP2
Phenotype: Seizure (HP:0001250)
Associated disease: 20p12.3 microdeletion syndrome; Del(20)(p12.3); Monosomy 20p12.3 (ORPHA:261295)
Gene: BMP2
Phenotype: Hypotonia (HP:0001252)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1 (OMIM:617877)
Gene: BMP2
Phenotype: Hypotonia (HP:0001252)
Associated disease: 20p12.3 microdeletion syndrome; Del(20)(p12.3); Monosomy 20p12.3 (ORPHA:261295)
Gene: BMP2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1 (OMIM:617877)
Gene: BMP2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: 20p12.3 microdeletion syndrome; Del(20)(p12.3); Monosomy 20p12.3 (ORPHA:261295)
Gene: BMP2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMP2
Phenotype: Cirrhosis (HP:0001394)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: BMP2
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: BMP2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMP2
Phenotype: Testicular atrophy (HP:0000029)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: BMP2
Phenotype: Azoospermia (HP:0000027)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: BMP2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMP2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: BMP2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Gene: BMP2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1 (OMIM:617877)
Gene: BMP2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMP2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMP2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMP2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Narrow mouth (HP:0000160)
Associated disease: 20p12.3 microdeletion syndrome; Del(20)(p12.3); Monosomy 20p12.3 (ORPHA:261295)
Gene: BMP2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Amenorrhea (HP:0000141)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: BMP2
Phenotype: Floppy infant (HP:0008947)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1 (OMIM:617877)
Gene: BMP2
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: BMP2
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1 (OMIM:617877)
Gene: BMP2
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Gene: BMP2
Phenotype: Abdominal pain (HP:0002027)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: BMP2
Phenotype: Spondylolisthesis (HP:0003302)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1 (OMIM:617877)
Gene: BMP2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1 (OMIM:617877)
Gene: BMP2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMP2
Phenotype: Ulnar deviation of the 2nd finger (HP:0009464)
Associated disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Gene: BMP2
Phenotype: Radial deviation of the 2nd finger (HP:0009467)
Associated disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Gene: BMP2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Increased circulating iron concentration (HP:0003452)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: BMP2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: 20p12.3 microdeletion syndrome; Del(20)(p12.3); Monosomy 20p12.3 (ORPHA:261295)
Gene: BMP2
Phenotype: Paroxysmal supraventricular tachycardia (HP:0004763)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1 (OMIM:617877)
Gene: BMP2
Phenotype: Triangular shaped middle phalanx of the 2nd finger (HP:0009575)
Associated disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Gene: BMP2
Phenotype: Aplasia/Hypoplasia of the middle phalanx of the 2nd finger (HP:0009568)
Associated disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Gene: BMP2
Phenotype: Aplasia/Hypoplasia of the middle phalanx of the 2nd finger (HP:0009568)
Associated disease: Brachydactyly, Mohr-Wriedt type; Brachydactyly type A2 (ORPHA:93396)
Gene: BMP2
Phenotype: Short 2nd finger (HP:0009536)
Associated disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Gene: BMP2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: BMP2
Phenotype: Pleural effusion (HP:0002202)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: BMP2
Phenotype: Toenail dysplasia (HP:0100797)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1 (OMIM:617877)
Gene: BMP2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Telangiectasia (HP:0001009)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: BMP2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMP2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMP2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMP2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMP2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Gene: BMP2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Brachydactyly, Mohr-Wriedt type; Brachydactyly type A2 (ORPHA:93396)
Gene: BMP2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1 (OMIM:617877)
Gene: BMP2
Phenotype: Broad hallux phalanx (HP:0010059)
Associated disease: 20p12.3 microdeletion syndrome; Del(20)(p12.3); Monosomy 20p12.3 (ORPHA:261295)
Gene: BMP2
Phenotype: Short middle phalanx of the 5th finger (HP:0004220)
Associated disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Gene: BMP2
Phenotype: Short middle phalanx of the 5th finger (HP:0004220)
Associated disease: Brachydactyly, Mohr-Wriedt type; Brachydactyly type A2 (ORPHA:93396)
Gene: BMP2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMP2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMP2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Glucose intolerance (HP:0001952)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: BMP2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMP2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Short 5th metacarpal (HP:0010047)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1 (OMIM:617877)
Gene: BMP2
Phenotype: Broad hallux (HP:0010055)
Associated disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Gene: BMP2
Phenotype: Short 2nd metacarpal (HP:0010038)
Associated disease: Brachydactyly, Mohr-Wriedt type; Brachydactyly type A2 (ORPHA:93396)
Gene: BMP2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Dental crowding (HP:0000678)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1 (OMIM:617877)
Gene: BMP2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMP2
Phenotype: Broad thumb (HP:0011304)
Associated disease: 20p12.3 microdeletion syndrome; Del(20)(p12.3); Monosomy 20p12.3 (ORPHA:261295)
Gene: BMP2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Synophrys (HP:0000664)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1 (OMIM:617877)
Gene: BMP2
Phenotype: Short stature (HP:0004322)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1 (OMIM:617877)
Gene: BMP2
Phenotype: Short stature (HP:0004322)
Associated disease: 20p12.3 microdeletion syndrome; Del(20)(p12.3); Monosomy 20p12.3 (ORPHA:261295)
Gene: BMP2
Phenotype: Impotence (HP:0000802)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: BMP2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMP2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)