TaoMedAI/RareMedData huggingface dataset:
Gene: BMPR1B
Phenotype: Tarsal synostosis (HP:0008368)
Associated disease: Du Pan syndrome; Fibular aplasia-complex brachydactyly syndrome (ORPHA:2639)
Gene: BMPR1B
Phenotype: Tarsal synostosis (HP:0008368)
Associated disease: Chondrodysplasia, Grebe type; Acromesomelic dysplasia, Grebe type (ORPHA:2098)
Gene: BMPR1B
Phenotype: Tarsal synostosis (HP:0008368)
Associated disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE (OMIM:609441)
Gene: BMPR1B
Phenotype: Stippling of the epiphysis of the distal phalanx of the thumb (HP:0009684)
Associated disease: Brachydactyly type C (ORPHA:93384)
Gene: BMPR1B
Phenotype: Elevated circulating luteinizing hormone level (HP:0011969)
Associated disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE (OMIM:609441)
Gene: BMPR1B
Phenotype: Short distal phalanx of the thumb (HP:0009650)
Associated disease: BRACHYDACTYLY, TYPE A1, D (OMIM:616849)
Gene: BMPR1B
Phenotype: Short proximal phalanx of thumb (HP:0009638)
Associated disease: BRACHYDACTYLY, TYPE A1, D (OMIM:616849)
Gene: BMPR1B
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPR1B
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE (OMIM:609441)
Gene: BMPR1B
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE (OMIM:609441)
Gene: BMPR1B
Phenotype: Symphalangism affecting the phalanges of the hand (HP:0009773)
Associated disease: Brachydactyly type C (ORPHA:93384)
Gene: BMPR1B
Phenotype: Short thumb (HP:0009778)
Associated disease: Brachydactyly type A1; Brachydactyly, Farabee type (ORPHA:93388)
Gene: BMPR1B
Phenotype: Short metatarsal (HP:0010743)
Associated disease: Brachydactyly type C (ORPHA:93384)
Gene: BMPR1B
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPR1B
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPR1B
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPR1B
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Gene: BMPR1B
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Brachydactyly, Mohr-Wriedt type; Brachydactyly type A2 (ORPHA:93396)
Gene: BMPR1B
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Brachydactyly type C (ORPHA:93384)
Gene: BMPR1B
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Brachydactyly type A1; Brachydactyly, Farabee type (ORPHA:93388)
Gene: BMPR1B
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: BRACHYDACTYLY, TYPE A1, D (OMIM:616849)
Gene: BMPR1B
Phenotype: Short middle phalanx of the 5th finger (HP:0004220)
Associated disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Gene: BMPR1B
Phenotype: Short middle phalanx of the 5th finger (HP:0004220)
Associated disease: BRACHYDACTYLY, TYPE A1, D (OMIM:616849)
Gene: BMPR1B
Phenotype: Short middle phalanx of the 5th finger (HP:0004220)
Associated disease: Brachydactyly, Mohr-Wriedt type; Brachydactyly type A2 (ORPHA:93396)
Gene: BMPR1B
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPR1B
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPR1B
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPR1B
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Broad hallux (HP:0010055)
Associated disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Gene: BMPR1B
Phenotype: Short 2nd metacarpal (HP:0010038)
Associated disease: Brachydactyly, Mohr-Wriedt type; Brachydactyly type A2 (ORPHA:93396)
Gene: BMPR1B
Phenotype: Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)
Associated disease: Brachydactyly type C (ORPHA:93384)
Gene: BMPR1B
Phenotype: Short 1st metacarpal (HP:0010034)
Associated disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE (OMIM:609441)
Gene: BMPR1B
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPR1B
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Short stature (HP:0004322)
Associated disease: Brachydactyly type C (ORPHA:93384)
Gene: BMPR1B
Phenotype: Short stature (HP:0004322)
Associated disease: Brachydactyly type A1; Brachydactyly, Farabee type (ORPHA:93388)
Gene: BMPR1B
Phenotype: Short stature (HP:0004322)
Associated disease: Du Pan syndrome; Fibular aplasia-complex brachydactyly syndrome (ORPHA:2639)
Gene: BMPR1B
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPR1B
Phenotype: Fibular hypoplasia (HP:0003038)
Associated disease: Chondrodysplasia, Grebe type; Acromesomelic dysplasia, Grebe type (ORPHA:2098)
Gene: BMPR1B
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPR1B
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: Brachydactyly type A1; Brachydactyly, Farabee type (ORPHA:93388)
Gene: BMPR1B
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE (OMIM:609441)
Gene: BMPR1B
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: BRACHYDACTYLY, TYPE A1, D (OMIM:616849)
Gene: BMPR1B
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Triangular shaped middle phalanx of the 5th finger (HP:0009182)
Associated disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Gene: BMPR1B
Phenotype: Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)
Associated disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Gene: BMPR1B
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Short hallux (HP:0010109)
Associated disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Gene: BMPR1B
Phenotype: Short hallux (HP:0010109)
Associated disease: Brachydactyly type A1; Brachydactyly, Farabee type (ORPHA:93388)
Gene: BMPR1B
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE (OMIM:609441)
Gene: BMPR1B
Phenotype: Short tibia (HP:0005736)
Associated disease: Chondrodysplasia, Grebe type; Acromesomelic dysplasia, Grebe type (ORPHA:2098)
Gene: BMPR1B
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPR1B
Phenotype: Aplasia of the middle phalanges of the toes (HP:0100387)
Associated disease: Chondrodysplasia, Grebe type; Acromesomelic dysplasia, Grebe type (ORPHA:2098)
Gene: BMPR1B
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE (OMIM:609441)
Gene: BMPR1B
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPR1B
Phenotype: Abnormal morphology of ulna (HP:0040071)
Associated disease: Du Pan syndrome; Fibular aplasia-complex brachydactyly syndrome (ORPHA:2639)
Gene: BMPR1B
Phenotype: Short proximal phalanx of finger (HP:0010241)
Associated disease: BRACHYDACTYLY, TYPE A1, D (OMIM:616849)
Gene: BMPR1B
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPR1B
Phenotype: Abnormal hip bone morphology (HP:0003272)
Associated disease: Du Pan syndrome; Fibular aplasia-complex brachydactyly syndrome (ORPHA:2639)
Gene: BMPR1B
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Sarcoma (HP:0100242)
Associated disease: Chondrodysplasia, Grebe type; Acromesomelic dysplasia, Grebe type (ORPHA:2098)
Gene: BMPR1B
Phenotype: Medially deviated second toe (HP:0008096)
Associated disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Gene: BMPR1B
Phenotype: Short middle phalanx of finger (HP:0005819)
Associated disease: Brachydactyly, Mohr-Wriedt type; Brachydactyly type A2 (ORPHA:93396)
Gene: BMPR1B
Phenotype: Short middle phalanx of finger (HP:0005819)
Associated disease: Brachydactyly type C (ORPHA:93384)
Gene: BMPR1B
Phenotype: Short middle phalanx of finger (HP:0005819)
Associated disease: Brachydactyly type A1; Brachydactyly, Farabee type (ORPHA:93388)
Gene: BMPR1B
Phenotype: Short finger (HP:0009381)
Associated disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE (OMIM:609441)
Gene: BMPR1B
Phenotype: Type C brachydactyly (HP:0009373)
Associated disease: Brachydactyly type C (ORPHA:93384)
Gene: BMPR1B
Phenotype: Type A2 brachydactyly (HP:0009372)
Associated disease: Brachydactyly, Mohr-Wriedt type; Brachydactyly type A2 (ORPHA:93396)
Gene: BMPR1B
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Abnormal morphology of the radius (HP:0002818)
Associated disease: Du Pan syndrome; Fibular aplasia-complex brachydactyly syndrome (ORPHA:2639)
Gene: BMPR1B
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Synostosis of carpal bones (HP:0005048)
Associated disease: Du Pan syndrome; Fibular aplasia-complex brachydactyly syndrome (ORPHA:2639)
Gene: BMPR1B
Phenotype: Synostosis of carpal bones (HP:0005048)
Associated disease: Chondrodysplasia, Grebe type; Acromesomelic dysplasia, Grebe type (ORPHA:2098)
Gene: BMPR1B
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPR1B
Phenotype: Death in infancy (HP:0001522)
Associated disease: Chondrodysplasia, Grebe type; Acromesomelic dysplasia, Grebe type (ORPHA:2098)
Gene: BMPR1B
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPR1B
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPR1B
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Aplasia/Hypoplasia of the fibula (HP:0006492)
Associated disease: Du Pan syndrome; Fibular aplasia-complex brachydactyly syndrome (ORPHA:2639)
Gene: BMPR1B
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Chondrodysplasia, Grebe type; Acromesomelic dysplasia, Grebe type (ORPHA:2098)
Gene: BMPR1B
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPR1B
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPR1B
Phenotype: Micromelia (HP:0002983)
Associated disease: Chondrodysplasia, Grebe type; Acromesomelic dysplasia, Grebe type (ORPHA:2098)
Gene: BMPR1B
Phenotype: Micromelia (HP:0002983)
Associated disease: Du Pan syndrome; Fibular aplasia-complex brachydactyly syndrome (ORPHA:2639)
Gene: BMPR1B
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Abnormal tibia morphology (HP:0002992)
Associated disease: Du Pan syndrome; Fibular aplasia-complex brachydactyly syndrome (ORPHA:2639)
Gene: BMPR1B
Phenotype: Fibular aplasia (HP:0002990)
Associated disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE (OMIM:609441)
Gene: BMPR1B
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPR1B
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Short foot (HP:0001773)
Associated disease: Brachydactyly, Mohr-Wriedt type; Brachydactyly type A2 (ORPHA:93396)
Gene: BMPR1B
Phenotype: Short foot (HP:0001773)
Associated disease: Brachydactyly type A1; Brachydactyly, Farabee type (ORPHA:93388)
Gene: BMPR1B
Phenotype: Short foot (HP:0001773)
Associated disease: Chondrodysplasia, Grebe type; Acromesomelic dysplasia, Grebe type (ORPHA:2098)
Gene: BMPR1B
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Broad foot (HP:0001769)
Associated disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE (OMIM:609441)
Gene: BMPR1B
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: Du Pan syndrome; Fibular aplasia-complex brachydactyly syndrome (ORPHA:2639)
Gene: BMPR1B
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE (OMIM:609441)
Gene: BMPR1B
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: BRACHYDACTYLY, TYPE A1, D (OMIM:616849)
Gene: BMPR1B
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Brachydactyly type A1; Brachydactyly, Farabee type (ORPHA:93388)
Gene: BMPR1B
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE (OMIM:609441)
Gene: BMPR1B
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPR1B
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Hallux valgus (HP:0001822)
Associated disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Gene: BMPR1B
Phenotype: Short toe (HP:0001831)
Associated disease: Chondrodysplasia, Grebe type; Acromesomelic dysplasia, Grebe type (ORPHA:2098)
Gene: BMPR1B
Phenotype: Short toe (HP:0001831)
Associated disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE (OMIM:609441)
Gene: BMPR1B
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPR1B
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPR2
Phenotype: Centrilobular ground-glass opacification on pulmonary HRCT (HP:0025180)
Associated disease: PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT (OMIM:265450)
Gene: BMPR2
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 1 (OMIM:178600)
Gene: BMPR2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 1 (OMIM:178600)
Gene: BMPR2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT (OMIM:265450)
Gene: BMPR2
Phenotype: Dyspnea (HP:0002094)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 1 (OMIM:178600)
Gene: BMPR2
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 1 (OMIM:178600)
Gene: BMPR2
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT (OMIM:265450)
Gene: BMPR2
Phenotype: Middle age onset (HP:0003596)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 1 (OMIM:178600)
Gene: BMPR2
Phenotype: Telangiectasia (HP:0001009)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 1 (OMIM:178600)
Gene: BMPR2
Phenotype: Pulmonary arterial medial hypertrophy (HP:0004964)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 1 (OMIM:178600)
Gene: BMPR2
Phenotype: Abnormal thrombosis (HP:0001977)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 1 (OMIM:178600)
Gene: BMPR2
Phenotype: Arterial intimal fibrosis (HP:0011353)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 1 (OMIM:178600)
Gene: BMPR2
Phenotype: Cough (HP:0012735)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 1 (OMIM:178600)
Gene: BMPR2
Phenotype: Young adult onset (HP:0011462)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 1 (OMIM:178600)
Gene: BMPR2
Phenotype: Hypertension (HP:0000822)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 1 (OMIM:178600)
Gene: BMPR2
Phenotype: Interlobular septal thickening (HP:0030879)
Associated disease: PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT (OMIM:265450)
Gene: BMPR2
Phenotype: Elevated jugular venous pressure (HP:0030848)
Associated disease: PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT (OMIM:265450)
Gene: BMPR2
Phenotype: Pulmonary venous occlusion (HP:0006518)
Associated disease: PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT (OMIM:265450)
Gene: BMPR2
Phenotype: Elevated right atrial pressure (HP:0005168)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 1 (OMIM:178600)
Gene: BMPR2
Phenotype: Right ventricular hypertrophy (HP:0001667)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 1 (OMIM:178600)
Gene: BMPR2
Phenotype: Pulmonary aterial intimal fibrosis (HP:0005312)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 1 (OMIM:178600)
Gene: BMPR2
Phenotype: Pulmonary artery vasoconstriction (HP:0005308)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 1 (OMIM:178600)
Gene: BMPR2
Phenotype: Increased pulmonary vascular resistance (HP:0005317)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 1 (OMIM:178600)
Gene: BMPR2
Phenotype: Right ventricular failure (HP:0001708)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 1 (OMIM:178600)
Gene: BMPR2
Phenotype: Abnormally loud pulmonic component of the second heart sound (HP:0031687)
Associated disease: PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT (OMIM:265450)
Gene: DST
Phenotype: Hand clenching (HP:0001188)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)
Gene: DST
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)
Gene: DST
Phenotype: Areflexia (HP:0001284)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)
Gene: DST
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)
Gene: DST
Phenotype: Flexion contracture (HP:0001371)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)
Gene: DST
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)
Gene: DST
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2 (OMIM:615425)
Gene: DST
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)
Gene: DST
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)
Gene: DST
Phenotype: Abnormal dermoepidermal hemidesmosome morphology (HP:0032449)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2 (OMIM:615425)
Gene: DST
Phenotype: Open mouth (HP:0000194)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)
Gene: DST
Phenotype: Blotching pigmentation of the skin (HP:0007610)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)
Gene: DST
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)
Gene: DST
Phenotype: Poor suck (HP:0002033)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)
Gene: DST
Phenotype: Apnea (HP:0002104)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)
Gene: DST
Phenotype: Infantile onset (HP:0003593)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2 (OMIM:615425)
Gene: DST
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2 (OMIM:615425)
Gene: DST
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)
Gene: DST
Phenotype: Atrophic scars (HP:0001075)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2 (OMIM:615425)
Gene: DST
Phenotype: Erythema (HP:0010783)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)
Gene: DST
Phenotype: Fever (HP:0001945)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)
Gene: DST
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)
Gene: DST
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)
Gene: DST
Phenotype: Bilateral vocal cord paresis (HP:0012822)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)
Gene: DST
Phenotype: Limited hip extension (HP:0003093)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)