TaoMedAI/RareMedData huggingface dataset:
Gene: BMP4
Phenotype: Conductive hearing impairment (HP:0000405)
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: Conductive hearing impairment (HP:0000405)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: BMP4
Phenotype: Macrotia (HP:0000400)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: BMP4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: BMP4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: BMP4
Phenotype: Astigmatism (HP:0000483)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Strabismus (HP:0000486)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Microcornea (HP:0000482)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Microcornea (HP:0000482)
Associated disease: Bakrania-Ragge syndrome; MCOPS6; Syndromic microphthalmia type 6; Microphthalmia with brain and digit anomalies (ORPHA:139471)
Gene: BMP4
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: BMP4
Phenotype: Anteverted nares (HP:0000463)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: BMP4
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: BMP4
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Short neck (HP:0000470)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: BMP4
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Protruding ear (HP:0000411)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Hypoplastic fetal nasal bone (HP:0025707)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: BMP4
Phenotype: Calcification of falx cerebri (HP:0005462)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: BMP4
Phenotype: Cataract (HP:0000518)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: BMP4
Phenotype: Cataract (HP:0000518)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: BMP4
Phenotype: Cataract (HP:0000518)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Cataract (HP:0000518)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: BMP4
Phenotype: Cataract (HP:0000518)
Associated disease: Bakrania-Ragge syndrome; MCOPS6; Syndromic microphthalmia type 6; Microphthalmia with brain and digit anomalies (ORPHA:139471)
Gene: BMP4
Phenotype: Developmental cataract (HP:0000519)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BMP4
Phenotype: Anophthalmia (HP:0000528)
Associated disease: Bakrania-Ragge syndrome; MCOPS6; Syndromic microphthalmia type 6; Microphthalmia with brain and digit anomalies (ORPHA:139471)
Gene: BMP4
Phenotype: Anophthalmia (HP:0000528)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Proptosis (HP:0000520)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Proptosis (HP:0000520)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: BMP4
Phenotype: Telecanthus (HP:0000506)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Visual impairment (HP:0000505)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: Bakrania-Ragge syndrome; MCOPS6; Syndromic microphthalmia type 6; Microphthalmia with brain and digit anomalies (ORPHA:139471)
Gene: BMP4
Phenotype: Glaucoma (HP:0000501)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Glaucoma (HP:0000501)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: BMP4
Phenotype: Glaucoma (HP:0000501)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: BMP4
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BMP4
Phenotype: Coloboma (HP:0000589)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Uveitis (HP:0000554)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: Bakrania-Ragge syndrome; MCOPS6; Syndromic microphthalmia type 6; Microphthalmia with brain and digit anomalies (ORPHA:139471)
Gene: BMP4
Phenotype: Visual loss (HP:0000572)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: BMP4
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Bakrania-Ragge syndrome; MCOPS6; Syndromic microphthalmia type 6; Microphthalmia with brain and digit anomalies (ORPHA:139471)
Gene: BMP4
Phenotype: Esotropia (HP:0000565)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: BMP4
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: Bakrania-Ragge syndrome; MCOPS6; Syndromic microphthalmia type 6; Microphthalmia with brain and digit anomalies (ORPHA:139471)
Gene: BMP4
Phenotype: Retinal detachment (HP:0000541)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: BMP4
Phenotype: Retinal detachment (HP:0000541)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: BMP4
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: BMP4
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BMP4
Phenotype: Myopia (HP:0000545)
Associated disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Gene: BMP4
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BMP4
Phenotype: Myopia (HP:0000545)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: BMP4
Phenotype: Myopia (HP:0000545)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: BMP4
Phenotype: Myopia (HP:0000545)
Associated disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Gene: BMP4
Phenotype: Myopia (HP:0000545)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: BMP4
Phenotype: Myopia (HP:0000545)
Associated disease: Bakrania-Ragge syndrome; MCOPS6; Syndromic microphthalmia type 6; Microphthalmia with brain and digit anomalies (ORPHA:139471)
Gene: BMP6
Phenotype: Lethargy (HP:0001254)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: BMP6
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: BMP6
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: BMP6
Phenotype: Arthritis (HP:0001369)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: BMP6
Phenotype: Joint swelling (HP:0001386)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: BMP6
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: BMP6
Phenotype: Testicular atrophy (HP:0000029)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: BMP6
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: BMP6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: IRON OVERLOAD, SUSCEPTIBILITY TO (OMIM:620121)
Gene: BMP6
Phenotype: Amenorrhea (HP:0000141)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: BMP6
Phenotype: Generalized bronze hyperpigmentation (HP:0007574)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: BMP6
Phenotype: Portal hypertension (HP:0001409)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: BMP6
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: BMP6
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: BMP6
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: IRON OVERLOAD, SUSCEPTIBILITY TO (OMIM:620121)
Gene: BMP6
Phenotype: Abnormal metacarpophalangeal joint morphology (HP:0011911)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: BMP6
Phenotype: Decreased libido (HP:0046504)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: BMP6
Phenotype: Middle age onset (HP:0003596)
Associated disease: IRON OVERLOAD, SUSCEPTIBILITY TO (OMIM:620121)
Gene: BMP6
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: BMP6
Phenotype: Late onset (HP:0003584)
Associated disease: IRON OVERLOAD, SUSCEPTIBILITY TO (OMIM:620121)
Gene: BMP6
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: BMP6
Phenotype: Chronic hepatic failure (HP:0100626)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: BMP6
Phenotype: Erectile dysfunction (HP:0100639)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: BMP6
Phenotype: Elevated circulating hepcidin concentration (HP:0031877)
Associated disease: IRON OVERLOAD, SUSCEPTIBILITY TO (OMIM:620121)
Gene: BMP6
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: BMP6
Phenotype: Arthropathy (HP:0003040)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: BMP6
Phenotype: Gynecomastia (HP:0000771)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: BMP6
Phenotype: Apathy (HP:0000741)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: BMP6
Phenotype: Infertility (HP:0000789)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: BMP6
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: BMP6
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: BMP6
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: BMP6
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: BMP6
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: IRON OVERLOAD, SUSCEPTIBILITY TO (OMIM:620121)
Gene: BMP6
Phenotype: Elevated jugular venous pressure (HP:0030848)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: BMP6
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: BMP6
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: BMP6
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: BMP6
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: BMP6
Phenotype: Arthralgia (HP:0002829)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: BMP6
Phenotype: Arthralgia (HP:0002829)
Associated disease: IRON OVERLOAD, SUSCEPTIBILITY TO (OMIM:620121)
Gene: BMP6
Phenotype: Fatigue (HP:0012378)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: BMP6
Phenotype: Abnormality of iron homeostasis (HP:0011031)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: BMP6
Phenotype: Stiff interphalangeal joints (HP:0005198)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: BMP6
Phenotype: Cholangiocarcinoma (HP:0030153)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: BMP6
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: BMP6
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: BMP6
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: BMP6
Phenotype: Elevated transferrin saturation (HP:0012463)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: BMP6
Phenotype: Elevated transferrin saturation (HP:0012463)
Associated disease: IRON OVERLOAD, SUSCEPTIBILITY TO (OMIM:620121)
Gene: BMP6
Phenotype: Elevated hepatic iron concentration (HP:0012465)
Associated disease: IRON OVERLOAD, SUSCEPTIBILITY TO (OMIM:620121)
Gene: BMP6
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: BMP6
Phenotype: Weight loss (HP:0001824)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: BMPR1A
Phenotype: Visual field defect (HP:0001123)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: BMPR1A
Phenotype: Hypertonia (HP:0001276)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Motor delay (HP:0001270)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: BMPR1A
Phenotype: Gait disturbance (HP:0001288)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Benign neoplasm of the central nervous system (HP:0100835)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Intestinal bleeding (HP:0002584)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: BMPR1A
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: BMPR1A
Phenotype: Seizure (HP:0001250)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Hypotonia (HP:0001252)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: BMPR1A
Phenotype: Dysarthria (HP:0001260)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Intussusception (HP:0002576)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: BMPR1A
Phenotype: Intussusception (HP:0002576)
Associated disease: HMPS; Hereditary mixed polyposis syndrome (ORPHA:157794)
Gene: BMPR1A
Phenotype: Intussusception (HP:0002576)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: BMPR1A
Phenotype: Hematochezia (HP:0002573)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: BMPR1A
Phenotype: Hematochezia (HP:0002573)
Associated disease: HMPS; Hereditary mixed polyposis syndrome (ORPHA:157794)
Gene: BMPR1A
Phenotype: Hematochezia (HP:0002573)
Associated disease: Generalized juvenile polyposis/juvenile polyposis coli (ORPHA:329971)
Gene: BMPR1A
Phenotype: Hematochezia (HP:0002573)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: BMPR1A
Phenotype: Rectal polyposis (HP:0100896)
Associated disease: Generalized juvenile polyposis/juvenile polyposis coli (ORPHA:329971)
Gene: BMPR1A
Phenotype: Rectal polyposis (HP:0100896)
Associated disease: HMPS; Hereditary mixed polyposis syndrome (ORPHA:157794)
Gene: BMPR1A
Phenotype: Neoplasm of the gastrointestinal tract (HP:0007378)
Associated disease: HMPS; Hereditary mixed polyposis syndrome (ORPHA:157794)
Gene: BMPR1A
Phenotype: Clubbing (HP:0001217)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: BMPR1A
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Flexion contracture (HP:0001371)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: BMPR1A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: BMPR1A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: POLYPOSIS SYNDROME, HEREDITARY MIXED, 2 (OMIM:610069)
Gene: BMPR1A
Phenotype: Juvenile colonic polyposis (HP:0012198)
Associated disease: POLYPOSIS SYNDROME, HEREDITARY MIXED, 2 (OMIM:610069)
Gene: BMPR1A
Phenotype: Juvenile colonic polyposis (HP:0012198)
Associated disease: HMPS; Hereditary mixed polyposis syndrome (ORPHA:157794)
Gene: BMPR1A
Phenotype: Hyperplastic colonic polyposis (HP:0012183)
Associated disease: POLYPOSIS SYNDROME, HEREDITARY MIXED, 2 (OMIM:610069)
Gene: BMPR1A
Phenotype: Hyperplastic colonic polyposis (HP:0012183)
Associated disease: HMPS; Hereditary mixed polyposis syndrome (ORPHA:157794)
Gene: BMPR1A
Phenotype: Glioblastoma multiforme (HP:0012174)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: BMPR1A
Phenotype: Prostate cancer (HP:0012125)
Associated disease: HMPS; Hereditary mixed polyposis syndrome (ORPHA:157794)
Gene: BMPR1A
Phenotype: Stomach cancer (HP:0012126)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Endometrial carcinoma (HP:0012114)
Associated disease: HMPS; Hereditary mixed polyposis syndrome (ORPHA:157794)