TaoMedAI/RareMedData huggingface dataset:
Gene: BMP2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Arthropathy (HP:0003040)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: BMP2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Anterior open-bite malocclusion (HP:0009102)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1 (OMIM:617877)
Gene: BMP2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1 (OMIM:617877)
Gene: BMP2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: 20p12.3 microdeletion syndrome; Del(20)(p12.3); Monosomy 20p12.3 (ORPHA:261295)
Gene: BMP2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Triangular shaped middle phalanx of the 5th finger (HP:0009182)
Associated disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Gene: BMP2
Phenotype: Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)
Associated disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Gene: BMP2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Short hallux (HP:0010109)
Associated disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Gene: BMP2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Short nose (HP:0003196)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1 (OMIM:617877)
Gene: BMP2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMP2
Phenotype: 11 pairs of ribs (HP:0000878)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1 (OMIM:617877)
Gene: BMP2
Phenotype: Prominent sternum (HP:0000884)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1 (OMIM:617877)
Gene: BMP2
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: BMP2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMP2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMP2
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1 (OMIM:617877)
Gene: BMP2
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: BMP2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: BMP2
Phenotype: Osteoporosis (HP:0000939)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: BMP2
Phenotype: Osteopenia (HP:0000938)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1 (OMIM:617877)
Gene: BMP2
Phenotype: Medially deviated second toe (HP:0008096)
Associated disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Gene: BMP2
Phenotype: Short middle phalanx of finger (HP:0005819)
Associated disease: Brachydactyly, Mohr-Wriedt type; Brachydactyly type A2 (ORPHA:93396)
Gene: BMP2
Phenotype: Type A2 brachydactyly (HP:0009372)
Associated disease: Brachydactyly, Mohr-Wriedt type; Brachydactyly type A2 (ORPHA:93396)
Gene: BMP2
Phenotype: Arrhythmia (HP:0011675)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: BMP2
Phenotype: Arrhythmia (HP:0011675)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1 (OMIM:617877)
Gene: BMP2
Phenotype: Perimembranous ventricular septal defect (HP:0011682)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1 (OMIM:617877)
Gene: BMP2
Phenotype: Epicanthus (HP:0000286)
Associated disease: 20p12.3 microdeletion syndrome; Del(20)(p12.3); Monosomy 20p12.3 (ORPHA:261295)
Gene: BMP2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Full cheeks (HP:0000293)
Associated disease: 20p12.3 microdeletion syndrome; Del(20)(p12.3); Monosomy 20p12.3 (ORPHA:261295)
Gene: BMP2
Phenotype: Alopecia (HP:0001596)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: BMP2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: 20p12.3 microdeletion syndrome; Del(20)(p12.3); Monosomy 20p12.3 (ORPHA:261295)
Gene: BMP2
Phenotype: Malar flattening (HP:0000272)
Associated disease: 20p12.3 microdeletion syndrome; Del(20)(p12.3); Monosomy 20p12.3 (ORPHA:261295)
Gene: BMP2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1 (OMIM:617877)
Gene: BMP2
Phenotype: High palate (HP:0000218)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1 (OMIM:617877)
Gene: BMP2
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1 (OMIM:617877)
Gene: BMP2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMP2
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1 (OMIM:617877)
Gene: BMP2
Phenotype: Ascites (HP:0001541)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: BMP2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMP2
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1 (OMIM:617877)
Gene: BMP2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMP2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Thickened helices (HP:0000391)
Associated disease: 20p12.3 microdeletion syndrome; Del(20)(p12.3); Monosomy 20p12.3 (ORPHA:261295)
Gene: BMP2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: BMP2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMP2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1 (OMIM:617877)
Gene: BMP2
Phenotype: Low-set ears (HP:0000369)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1 (OMIM:617877)
Gene: BMP2
Phenotype: Narrow forehead (HP:0000341)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1 (OMIM:617877)
Gene: BMP2
Phenotype: Long philtrum (HP:0000343)
Associated disease: 20p12.3 microdeletion syndrome; Del(20)(p12.3); Monosomy 20p12.3 (ORPHA:261295)
Gene: BMP2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Long philtrum (HP:0000343)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1 (OMIM:617877)
Gene: BMP2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMP2
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1 (OMIM:617877)
Gene: BMP2
Phenotype: Broad forehead (HP:0000337)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1 (OMIM:617877)
Gene: BMP2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: 20p12.3 microdeletion syndrome; Del(20)(p12.3); Monosomy 20p12.3 (ORPHA:261295)
Gene: BMP2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1 (OMIM:617877)
Gene: BMP2
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: 20p12.3 microdeletion syndrome; Del(20)(p12.3); Monosomy 20p12.3 (ORPHA:261295)
Gene: BMP2
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: BMP2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: BMP2
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: BMP2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: 20p12.3 microdeletion syndrome; Del(20)(p12.3); Monosomy 20p12.3 (ORPHA:261295)
Gene: BMP2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMP2
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1 (OMIM:617877)
Gene: BMP2
Phenotype: Wolff-Parkinson-White syndrome (HP:0001716)
Associated disease: 20p12.3 microdeletion syndrome; Del(20)(p12.3); Monosomy 20p12.3 (ORPHA:261295)
Gene: BMP2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: 20p12.3 microdeletion syndrome; Del(20)(p12.3); Monosomy 20p12.3 (ORPHA:261295)
Gene: BMP2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: 20p12.3 microdeletion syndrome; Del(20)(p12.3); Monosomy 20p12.3 (ORPHA:261295)
Gene: BMP2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1 (OMIM:617877)
Gene: BMP2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1 (OMIM:617877)
Gene: BMP2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Short foot (HP:0001773)
Associated disease: Brachydactyly, Mohr-Wriedt type; Brachydactyly type A2 (ORPHA:93396)
Gene: BMP2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: BMP2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: 20p12.3 microdeletion syndrome; Del(20)(p12.3); Monosomy 20p12.3 (ORPHA:261295)
Gene: BMP2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Sandal gap (HP:0001852)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1 (OMIM:617877)
Gene: BMP2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMP2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Hallux valgus (HP:0001822)
Associated disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Gene: BMP2
Phenotype: Short toe (HP:0001831)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1 (OMIM:617877)
Gene: BMP2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMP2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMP4
Phenotype: Abnormality of the hand (HP:0001155)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Brachydactyly (HP:0001156)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BMP4
Phenotype: Orbital cyst (HP:0001144)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Visual field defect (HP:0001123)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: BMP4
Phenotype: Uplifted earlobe (HP:0009909)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Bakrania-Ragge syndrome; MCOPS6; Syndromic microphthalmia type 6; Microphthalmia with brain and digit anomalies (ORPHA:139471)
Gene: BMP4
Phenotype: Motor delay (HP:0001270)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: BMP4
Phenotype: Gait disturbance (HP:0001288)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: BMP4
Phenotype: Seizure (HP:0001250)
Associated disease: Bakrania-Ragge syndrome; MCOPS6; Syndromic microphthalmia type 6; Microphthalmia with brain and digit anomalies (ORPHA:139471)
Gene: BMP4
Phenotype: Hypotonia (HP:0001252)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Hypotonia (HP:0001252)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Bakrania-Ragge syndrome; MCOPS6; Syndromic microphthalmia type 6; Microphthalmia with brain and digit anomalies (ORPHA:139471)
Gene: BMP4
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Bakrania-Ragge syndrome; MCOPS6; Syndromic microphthalmia type 6; Microphthalmia with brain and digit anomalies (ORPHA:139471)
Gene: BMP4
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Aplasia of the optic tract (HP:0010999)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Polygenic inheritance (HP:0010982)
Associated disease: OROFACIAL CLEFT 11 (OMIM:600625)
Gene: BMP4
Phenotype: Wide tufts of distal phalanges (HP:0006095)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: BMP4
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Small scrotum (HP:0000046)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: BMP4
Phenotype: Joint dislocation (HP:0001373)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Lens luxation (HP:0012019)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: BMP4
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: BMP4
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: BMP4
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Bakrania-Ragge syndrome; MCOPS6; Syndromic microphthalmia type 6; Microphthalmia with brain and digit anomalies (ORPHA:139471)
Gene: BMP4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Absent frontal sinuses (HP:0002688)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: BMP4
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: BMP4
Phenotype: Hypoplastic pelvis (HP:0008839)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: BMP4
Phenotype: Membranous vitreous appearance (HP:0031153)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Beaded vitreous appearance (HP:0031154)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Flattened, squared-off epiphyses of tubular bones (HP:0006172)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: BMP4
Phenotype: Delayed epiphyseal ossification (HP:0002663)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: BMP4
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: BMP4
Phenotype: Absent speech (HP:0001344)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Coxa valga (HP:0002673)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: BMP4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BMP4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BMP4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: BMP4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: BMP4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: BMP4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: BMP4
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Bone pain (HP:0002653)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Scoliosis (HP:0002650)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Rhizomelia (HP:0008905)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: BMP4
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: BMP4
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Bifid uvula (HP:0000193)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: BMP4
Phenotype: Bifid uvula (HP:0000193)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Glossoptosis (HP:0000162)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Macroglossia (HP:0000158)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Cleft palate (HP:0000175)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: BMP4
Phenotype: Cleft palate (HP:0000175)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: BMP4
Phenotype: Cleft palate (HP:0000175)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Cleft palate (HP:0000175)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: BMP4
Phenotype: Cleft palate (HP:0000175)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Cleft palate (HP:0000175)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: BMP4
Phenotype: Cleft palate (HP:0000175)
Associated disease: OROFACIAL CLEFT 11 (OMIM:600625)
Gene: BMP4
Phenotype: Microglossia (HP:0000171)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BMP4
Phenotype: Peg-shaped maxillary lateral incisors (HP:0006342)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: BMP4
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BMP4
Phenotype: Cleft lip (HP:0410030)
Associated disease: OROFACIAL CLEFT 11 (OMIM:600625)
Gene: BMP4
Phenotype: Peripheral tractional retinal detachment (HP:0007643)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: BMP4
Phenotype: Abnormality of dental eruption (HP:0006292)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: BMP4
Phenotype: Advanced eruption of teeth (HP:0006288)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)