TaoMedAI/RareMedData huggingface dataset:
Gene: RPL11
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DIAMOND-BLACKFAN ANEMIA 7 (OMIM:612562)
Gene: RPL11
Phenotype: Growth delay (HP:0001510)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
Phenotype: Growth delay (HP:0001510)
Associated disease: DIAMOND-BLACKFAN ANEMIA 7 (OMIM:612562)
Gene: RPL11
Phenotype: Hearing impairment (HP:0000365)
Associated disease: DIAMOND-BLACKFAN ANEMIA 7 (OMIM:612562)
Gene: RPL11
Phenotype: Low-set ears (HP:0000369)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
Phenotype: Secundum atrial septal defect (HP:0001684)
Associated disease: DIAMOND-BLACKFAN ANEMIA 7 (OMIM:612562)
Gene: RPL11
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
Phenotype: Micrognathia (HP:0000347)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: DIAMOND-BLACKFAN ANEMIA 7 (OMIM:612562)
Gene: RPL11
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: DIAMOND-BLACKFAN ANEMIA 7 (OMIM:612562)
Gene: RPL11
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: DIAMOND-BLACKFAN ANEMIA 7 (OMIM:612562)
Gene: RPL11
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: DIAMOND-BLACKFAN ANEMIA 7 (OMIM:612562)
Gene: RPL11
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
Phenotype: Strabismus (HP:0000486)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
Phenotype: Short neck (HP:0000470)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
Phenotype: Webbed neck (HP:0000465)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
Phenotype: Choanal atresia (HP:0000453)
Associated disease: DIAMOND-BLACKFAN ANEMIA 7 (OMIM:612562)
Gene: RPL11
Phenotype: Elevated red cell adenosine deaminase activity (HP:0030270)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
Phenotype: Pure red cell aplasia (HP:0012410)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: DIAMOND-BLACKFAN ANEMIA 7 (OMIM:612562)
Gene: RPL11
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
Phenotype: Malignant genitourinary tract tumor (HP:0006758)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
Phenotype: Developmental cataract (HP:0000519)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
Phenotype: Ptosis (HP:0000508)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
Phenotype: Reticulocytopenia (HP:0001896)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
Phenotype: Normochromic anemia (HP:0001895)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: DIAMOND-BLACKFAN ANEMIA 7 (OMIM:612562)
Gene: RPL11
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL13
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL13
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL13
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Upper-limb metaphyseal irregularity (HP:0003850)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE (OMIM:618728)
Gene: RPL13
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL13
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL13
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE (OMIM:618728)
Gene: RPL13
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL13
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE (OMIM:618728)
Gene: RPL13
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL13
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE (OMIM:618728)
Gene: RPL13
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL13
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL13
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL13
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Severe short stature (HP:0003510)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE (OMIM:618728)
Gene: RPL13
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL13
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL13
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL13
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL13
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL13
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL13
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL13
Phenotype: Anemia (HP:0001903)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE (OMIM:618728)
Gene: RPL13
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL13
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Enlarged metaphyses (HP:0003051)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE (OMIM:618728)
Gene: RPL13
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL13
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL13
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Short long bone (HP:0003026)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE (OMIM:618728)
Gene: RPL13
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Platyspondyly (HP:0000926)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE (OMIM:618728)
Gene: RPL13
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL13
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL13
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL13
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Coxa vara (HP:0002812)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE (OMIM:618728)
Gene: RPL13
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Irregular femoral epiphysis (HP:0006361)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE (OMIM:618728)
Gene: RPL13
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL13
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL13
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL13
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL13
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL13
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Genu varum (HP:0002970)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE (OMIM:618728)
Gene: RPL13
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL13
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Lower-limb metaphyseal irregularity (HP:0030291)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE (OMIM:618728)
Gene: RPL13
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL13
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL13
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL15
Phenotype: Partial duplication of thumb phalanx (HP:0009944)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL15
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: DIAMOND-BLACKFAN ANEMIA 12 (OMIM:615550)
Gene: RPL15
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL15
Phenotype: Microtia (HP:0008551)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL15
Phenotype: Lethargy (HP:0001254)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL15
Phenotype: Abnormality of the thenar eminence (HP:0001227)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL15
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL15
Phenotype: Hypospadias (HP:0000047)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL15
Phenotype: Osteosarcoma (HP:0002669)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL15
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DIAMOND-BLACKFAN ANEMIA 12 (OMIM:615550)
Gene: RPL15
Phenotype: Cleft soft palate (HP:0000185)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL15
Phenotype: Erythroid hypoplasia (HP:0012133)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL15
Phenotype: Cleft lip (HP:0410030)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL15
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL15
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL15
Phenotype: Adenocarcinoma of the colon (HP:0040276)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL15
Phenotype: Persistence of hemoglobin F (HP:0011904)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL15
Phenotype: Congenital onset (HP:0003577)
Associated disease: DIAMOND-BLACKFAN ANEMIA 12 (OMIM:615550)
Gene: RPL15
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL15
Phenotype: Developmental glaucoma (HP:0001087)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL15
Phenotype: Radial artery aplasia (HP:0020118)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL15
Phenotype: Absent thumb (HP:0009777)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL15
Phenotype: Short thumb (HP:0009778)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL15
Phenotype: Macrocytic dyserythropoietic anemia (HP:0005532)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL15
Phenotype: Increased mean corpuscular volume (HP:0005518)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL15
Phenotype: Macrocytic anemia (HP:0001972)
Associated disease: DIAMOND-BLACKFAN ANEMIA 12 (OMIM:615550)
Gene: RPL15
Phenotype: Short stature (HP:0004322)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL15
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL15
Phenotype: Sprengel anomaly (HP:0000912)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL15
Phenotype: Pallor (HP:0000980)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL15
Phenotype: Epicanthus (HP:0000286)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL15
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)