TaoMedAI/RareMedData huggingface dataset:
Gene: BMPR1A
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: BMPR1A
Phenotype: Abnormal circulating creatine concentration (HP:0012113)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Malabsorption (HP:0002024)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Constipation (HP:0002019)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: BMPR1A
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: BMPR1A
Phenotype: Abdominal pain (HP:0002027)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Abdominal pain (HP:0002027)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: BMPR1A
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: BMPR1A
Phenotype: Large forehead (HP:0002003)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: BMPR1A
Phenotype: Diarrhea (HP:0002014)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: BMPR1A
Phenotype: Diarrhea (HP:0002014)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: BMPR1A
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: BMPR1A
Phenotype: Migraine (HP:0002076)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Cardiac diverticulum (HP:0100571)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Amaurosis fugax (HP:0100576)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Adenocarcinoma of the colon (HP:0040276)
Associated disease: HMPS; Hereditary mixed polyposis syndrome (ORPHA:157794)
Gene: BMPR1A
Phenotype: Duodenal polyposis (HP:0004783)
Associated disease: Generalized juvenile polyposis/juvenile polyposis coli (ORPHA:329971)
Gene: BMPR1A
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Dysgraphia (HP:0010526)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Disturbed sensory perception (HP:0010524)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Paresthesia (HP:0003401)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Protein-losing enteropathy (HP:0002243)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: BMPR1A
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: BMPR1A
Phenotype: Melena (HP:0002249)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: BMPR1A
Phenotype: Renal neoplasm (HP:0009726)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Neoplasm of the rectum (HP:0100743)
Associated disease: HMPS; Hereditary mixed polyposis syndrome (ORPHA:157794)
Gene: BMPR1A
Phenotype: Neoplasm of the rectum (HP:0100743)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Clubbing of fingers (HP:0100759)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: BMPR1A
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Neoplasm of the skeletal system (HP:0010622)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Subcutaneous lipoma (HP:0001031)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: BMPR1A
Phenotype: Hemangioma (HP:0001028)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: BMPR1A
Phenotype: Developmental regression (HP:0002376)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Memory impairment (HP:0002354)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Anemic pallor (HP:0001017)
Associated disease: Generalized juvenile polyposis/juvenile polyposis coli (ORPHA:329971)
Gene: BMPR1A
Phenotype: Dyskinesia (HP:0100660)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Colorectal polyposis (HP:0200063)
Associated disease: HMPS; Hereditary mixed polyposis syndrome (ORPHA:157794)
Gene: BMPR1A
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Hemangioblastoma (HP:0010797)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: BMPR1A
Phenotype: Urinary tract neoplasm (HP:0010786)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Uterine neoplasm (HP:0010784)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Refractory anemia (HP:0005505)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: BMPR1A
Phenotype: Refractory anemia (HP:0005505)
Associated disease: HMPS; Hereditary mixed polyposis syndrome (ORPHA:157794)
Gene: BMPR1A
Phenotype: Anemia (HP:0001903)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: BMPR1A
Phenotype: Anemia (HP:0001903)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: BMPR1A
Phenotype: Anemia (HP:0001903)
Associated disease: Generalized juvenile polyposis/juvenile polyposis coli (ORPHA:329971)
Gene: BMPR1A
Phenotype: Broad thumb (HP:0011304)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: BMPR1A
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: BMPR1A
Phenotype: Short stature (HP:0004322)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: BMPR1A
Phenotype: Colon cancer (HP:0003003)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: BMPR1A
Phenotype: Colon cancer (HP:0003003)
Associated disease: HMPS; Hereditary mixed polyposis syndrome (ORPHA:157794)
Gene: BMPR1A
Phenotype: Colon cancer (HP:0003003)
Associated disease: POLYPOSIS SYNDROME, HEREDITARY MIXED, 2 (OMIM:610069)
Gene: BMPR1A
Phenotype: Colon cancer (HP:0003003)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: BMPR1A
Phenotype: Cachexia (HP:0004326)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: BMPR1A
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: BMPR1A
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: BMPR1A
Phenotype: Multiple gastric polyps (HP:0004394)
Associated disease: Generalized juvenile polyposis/juvenile polyposis coli (ORPHA:329971)
Gene: BMPR1A
Phenotype: Multiple gastric polyps (HP:0004394)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: BMPR1A
Phenotype: Hamartomatous polyposis (HP:0004390)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: BMPR1A
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Neoplasm of the breast (HP:0100013)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Neoplasm of the thyroid gland (HP:0100031)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Hallucinations (HP:0000738)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Irritability (HP:0000737)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Anxiety (HP:0000739)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Depression (HP:0000716)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Atypical behavior (HP:0000708)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Broad phalanx of the toes (HP:0010174)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: BMPR1A
Phenotype: Neoplasm of the colon (HP:0100273)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Edema (HP:0000969)
Associated disease: Generalized juvenile polyposis/juvenile polyposis coli (ORPHA:329971)
Gene: BMPR1A
Phenotype: Gastrointestinal desmoid tumor (HP:0100245)
Associated disease: HMPS; Hereditary mixed polyposis syndrome (ORPHA:157794)
Gene: BMPR1A
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: BMPR1A
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Pituitary adenoma (HP:0002893)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Thyroid carcinoma (HP:0002890)
Associated disease: HMPS; Hereditary mixed polyposis syndrome (ORPHA:157794)
Gene: BMPR1A
Phenotype: Failure to thrive (HP:0001508)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: BMPR1A
Phenotype: Growth delay (HP:0001510)
Associated disease: Generalized juvenile polyposis/juvenile polyposis coli (ORPHA:329971)
Gene: BMPR1A
Phenotype: Fatigue (HP:0012378)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Adenomatous colonic polyposis (HP:0005227)
Associated disease: HMPS; Hereditary mixed polyposis syndrome (ORPHA:157794)
Gene: BMPR1A
Phenotype: Adenomatous colonic polyposis (HP:0005227)
Associated disease: Generalized juvenile polyposis/juvenile polyposis coli (ORPHA:329971)
Gene: BMPR1A
Phenotype: Adenomatous colonic polyposis (HP:0005227)
Associated disease: POLYPOSIS SYNDROME, HEREDITARY MIXED, 2 (OMIM:610069)
Gene: BMPR1A
Phenotype: Adenomatous colonic polyposis (HP:0005227)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: BMPR1A
Phenotype: Adenomatous colonic polyposis (HP:0005227)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: BMPR1A
Phenotype: Hypokalemia (HP:0002900)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: BMPR1A
Phenotype: Low-set ears (HP:0000369)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: BMPR1A
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: BMPR1A
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: BMPR1A
Phenotype: Short chin (HP:0000331)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: BMPR1A
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: BMPR1A
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: BMPR1A
Phenotype: Midclavicular hypoplasia (HP:0006608)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: BMPR1A
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: BMPR1A
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: BMPR1A
Phenotype: Freckled genitalia (HP:0030257)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: BMPR1A
Phenotype: Small intestinal polyposis (HP:0030256)
Associated disease: Generalized juvenile polyposis/juvenile polyposis coli (ORPHA:329971)
Gene: BMPR1A
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: BMPR1A
Phenotype: Pancreatic adenocarcinoma (HP:0006725)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Duodenal adenocarcinoma (HP:0006771)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: BMPR1A
Phenotype: Duodenal adenocarcinoma (HP:0006771)
Associated disease: HMPS; Hereditary mixed polyposis syndrome (ORPHA:157794)
Gene: BMPR1A
Phenotype: Weight loss (HP:0001824)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Visual impairment (HP:0000505)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BMPR1A
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Generalized juvenile polyposis/juvenile polyposis coli (ORPHA:329971)
Gene: BMPR1A
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: BMPR1A
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: HMPS; Hereditary mixed polyposis syndrome (ORPHA:157794)
Gene: BMPR1B
Phenotype: Abnormal thumb morphology (HP:0001172)
Associated disease: Du Pan syndrome; Fibular aplasia-complex brachydactyly syndrome (ORPHA:2639)
Gene: BMPR1B
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Chondrodysplasia, Grebe type; Acromesomelic dysplasia, Grebe type (ORPHA:2098)
Gene: BMPR1B
Phenotype: Brachydactyly (HP:0001156)
Associated disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE (OMIM:609441)
Gene: BMPR1B
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Du Pan syndrome; Fibular aplasia-complex brachydactyly syndrome (ORPHA:2639)
Gene: BMPR1B
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Chondrodysplasia, Grebe type; Acromesomelic dysplasia, Grebe type (ORPHA:2098)
Gene: BMPR1B
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPR1B
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPR1B
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Brachydactyly type C (ORPHA:93384)
Gene: BMPR1B
Phenotype: Broad metacarpals (HP:0001230)
Associated disease: Brachydactyly type A1; Brachydactyly, Farabee type (ORPHA:93388)
Gene: BMPR1B
Phenotype: Short femoral neck (HP:0100864)
Associated disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE (OMIM:609441)
Gene: BMPR1B
Phenotype: Distal symphalangism of hands (HP:0001204)
Associated disease: Brachydactyly type A1; Brachydactyly, Farabee type (ORPHA:93388)
Gene: BMPR1B
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPR1B
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Du Pan syndrome; Fibular aplasia-complex brachydactyly syndrome (ORPHA:2639)
Gene: BMPR1B
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Chondrodysplasia, Grebe type; Acromesomelic dysplasia, Grebe type (ORPHA:2098)
Gene: BMPR1B
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPR1B
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: Chondrodysplasia, Grebe type; Acromesomelic dysplasia, Grebe type (ORPHA:2098)
Gene: BMPR1B
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE (OMIM:609441)
Gene: BMPR1B
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPR1B
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE (OMIM:609441)
Gene: BMPR1B
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE (OMIM:609441)
Gene: BMPR1B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Gene: BMPR1B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPR1B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BRACHYDACTYLY, TYPE A1, D (OMIM:616849)
Gene: BMPR1B
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Chondrodysplasia, Grebe type; Acromesomelic dysplasia, Grebe type (ORPHA:2098)
Gene: BMPR1B
Phenotype: Scoliosis (HP:0002650)
Associated disease: Brachydactyly type A1; Brachydactyly, Farabee type (ORPHA:93388)
Gene: BMPR1B
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPR1B
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPR1B
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Widened proximal tibial metaphyses (HP:0005028)
Associated disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE (OMIM:609441)
Gene: BMPR1B
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: Du Pan syndrome; Fibular aplasia-complex brachydactyly syndrome (ORPHA:2639)
Gene: BMPR1B
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE (OMIM:609441)
Gene: BMPR1B
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Gene: BMPR1B
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPR1B
Phenotype: Ulnar deviation of finger (HP:0009465)
Associated disease: Brachydactyly type C (ORPHA:93384)
Gene: BMPR1B
Phenotype: Ulnar deviation of the 2nd finger (HP:0009464)
Associated disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Gene: BMPR1B
Phenotype: Radial deviation of the 2nd finger (HP:0009467)
Associated disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Gene: BMPR1B
Phenotype: Radial deviation of finger (HP:0009466)
Associated disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE (OMIM:609441)
Gene: BMPR1B
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Du Pan syndrome; Fibular aplasia-complex brachydactyly syndrome (ORPHA:2639)
Gene: BMPR1B
Phenotype: Aplasia/Hypoplasia involving the metacarpal bones (HP:0005914)
Associated disease: Chondrodysplasia, Grebe type; Acromesomelic dysplasia, Grebe type (ORPHA:2098)
Gene: BMPR1B
Phenotype: Pseudoepiphysis of the 2nd finger (HP:0009495)
Associated disease: Brachydactyly type C (ORPHA:93384)
Gene: BMPR1B
Phenotype: Complete duplication of distal phalanx of the thumb (HP:0009606)
Associated disease: Brachydactyly type C (ORPHA:93384)
Gene: BMPR1B
Phenotype: Aplasia/Hypoplasia of the thumb (HP:0009601)
Associated disease: Chondrodysplasia, Grebe type; Acromesomelic dysplasia, Grebe type (ORPHA:2098)
Gene: BMPR1B
Phenotype: Triangular shaped middle phalanx of the 2nd finger (HP:0009575)
Associated disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Gene: BMPR1B
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE (OMIM:609441)
Gene: BMPR1B
Phenotype: Short distal phalanx of the 2nd finger (HP:0009566)
Associated disease: BRACHYDACTYLY, TYPE A1, D (OMIM:616849)
Gene: BMPR1B
Phenotype: Aplasia/Hypoplasia of the middle phalanx of the 2nd finger (HP:0009568)
Associated disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Gene: BMPR1B
Phenotype: Aplasia/Hypoplasia of the middle phalanx of the 2nd finger (HP:0009568)
Associated disease: BRACHYDACTYLY, TYPE A1, D (OMIM:616849)
Gene: BMPR1B
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: BMPR1B
Phenotype: Short 2nd finger (HP:0009536)
Associated disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Gene: BMPR1B
Phenotype: Metatarsus valgus (HP:0010508)
Associated disease: Brachydactyly type C (ORPHA:93384)
Gene: BMPR1B
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: Brachydactyly type C (ORPHA:93384)
Gene: BMPR1B
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: Brachydactyly type A1; Brachydactyly, Farabee type (ORPHA:93388)
Gene: BMPR1B
Phenotype: Aplasia of the proximal phalanx of the 2nd finger (HP:0009596)
Associated disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE (OMIM:609441)
Gene: BMPR1B
Phenotype: Poor motor coordination (HP:0002275)
Associated disease: BRACHYDACTYLY, TYPE A1, D (OMIM:616849)
Gene: BMPR1B
Phenotype: Congenital onset (HP:0003577)
Associated disease: BRACHYDACTYLY, TYPE A1, D (OMIM:616849)
Gene: BMPR1B
Phenotype: Carpal synostosis (HP:0009702)
Associated disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE (OMIM:609441)