TaoMedAI/RareMedData huggingface dataset:
Gene: RPL10
Phenotype: Pulmonary artery stenosis (HP:0004415)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Pulmonary artery stenosis (HP:0004415)
Associated disease: X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome (ORPHA:435938)
Gene: RPL10
Phenotype: 2-3 toe cutaneous syndactyly (HP:0005709)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL10
Phenotype: Wide nasal ridge (HP:0012811)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL10
Phenotype: Delayed puberty (HP:0000823)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Anteverted ears (HP:0040080)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Periventricular white matter hyperintensities (HP:0030891)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL10
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome (ORPHA:435938)
Gene: RPL10
Phenotype: Sacral dimple (HP:0000960)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Osteoporosis (HP:0000939)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Osteoporosis (HP:0000939)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Short finger (HP:0009381)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Short finger (HP:0009381)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Epicanthus (HP:0000286)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Epicanthus (HP:0000286)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Long face (HP:0000276)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome (ORPHA:435938)
Gene: RPL10
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome (ORPHA:435938)
Gene: RPL10
Phenotype: Microcephaly (HP:0000252)
Associated disease: X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome (ORPHA:435938)
Gene: RPL10
Phenotype: Microcephaly (HP:0000252)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Microcephaly (HP:0000252)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome (ORPHA:435938)
Gene: RPL10
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL10
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL10
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Growth delay (HP:0001510)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Growth delay (HP:0001510)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL10
Phenotype: Camptodactyly (HP:0012385)
Associated disease: X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome (ORPHA:435938)
Gene: RPL10
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Increased theta frequency activity in EEG (HP:0031535)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome (ORPHA:435938)
Gene: RPL10
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL10
Phenotype: High myopia (HP:0011003)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Low-set ears (HP:0000369)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Long philtrum (HP:0000343)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Long philtrum (HP:0000343)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL10
Phenotype: Broad forehead (HP:0000337)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Premature birth (HP:0001622)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Microretrognathia (HP:0000308)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Microretrognathia (HP:0000308)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL10
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome (ORPHA:435938)
Gene: RPL10
Phenotype: Dilatation of the ventricular cavity (HP:0006698)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome (ORPHA:435938)
Gene: RPL10
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Macrotia (HP:0000400)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Broad foot (HP:0001769)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Protruding ear (HP:0000411)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Protruding ear (HP:0000411)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Protruding ear (HP:0000411)
Associated disease: X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome (ORPHA:435938)
Gene: RPL10
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL10
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Absent antihelix (HP:0011234)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Exotropia (HP:0000577)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Hypermetropia (HP:0000540)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL10
Phenotype: Dilation of Virchow-Robin spaces (HP:0012520)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Myopia (HP:0000545)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL11
Phenotype: Fetal distress (HP:0025116)
Associated disease: DIAMOND-BLACKFAN ANEMIA 7 (OMIM:612562)
Gene: RPL11
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: RPL11
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: DIAMOND-BLACKFAN ANEMIA 7 (OMIM:612562)
Gene: RPL11
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
Phenotype: Microtia (HP:0008551)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
Phenotype: Lethargy (HP:0001254)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
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: RPL11
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: DIAMOND-BLACKFAN ANEMIA 7 (OMIM:612562)
Gene: RPL11
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: DIAMOND-BLACKFAN ANEMIA 7 (OMIM:612562)
Gene: RPL11
Phenotype: Hypospadias (HP:0000047)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
Phenotype: Osteosarcoma (HP:0002669)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DIAMOND-BLACKFAN ANEMIA 7 (OMIM:612562)
Gene: RPL11
Phenotype: Scoliosis (HP:0002650)
Associated disease: DIAMOND-BLACKFAN ANEMIA 7 (OMIM:612562)
Gene: RPL11
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: RPL11
Phenotype: Cleft palate (HP:0000175)
Associated disease: DIAMOND-BLACKFAN ANEMIA 7 (OMIM:612562)
Gene: RPL11
Phenotype: Erythroid hypoplasia (HP:0012133)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
Phenotype: Cleft lip (HP:0410030)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
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: RPL11
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
Phenotype: Recurrent infections (HP:0002719)
Associated disease: DIAMOND-BLACKFAN ANEMIA 7 (OMIM:612562)
Gene: RPL11
Phenotype: Decreased circulating vitamin D concentration (HP:0100512)
Associated disease: DIAMOND-BLACKFAN ANEMIA 7 (OMIM:612562)
Gene: RPL11
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: RPL11
Phenotype: Small hypothenar eminence (HP:0010487)
Associated disease: DIAMOND-BLACKFAN ANEMIA 7 (OMIM:612562)
Gene: RPL11
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: RPL11
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: RPL11
Phenotype: Developmental glaucoma (HP:0001087)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
Phenotype: Esophagitis (HP:0100633)
Associated disease: DIAMOND-BLACKFAN ANEMIA 7 (OMIM:612562)
Gene: RPL11
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: RPL11
Phenotype: Absent thumb (HP:0009777)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
Phenotype: Short thumb (HP:0009778)
Associated disease: DIAMOND-BLACKFAN ANEMIA 7 (OMIM:612562)
Gene: RPL11
Phenotype: Short thumb (HP:0009778)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
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: RPL11
Phenotype: Increased mean corpuscular volume (HP:0005518)
Associated disease: DIAMOND-BLACKFAN ANEMIA 7 (OMIM:612562)
Gene: RPL11
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: RPL11
Phenotype: Macrocytic anemia (HP:0001972)
Associated disease: DIAMOND-BLACKFAN ANEMIA 7 (OMIM:612562)
Gene: RPL11
Phenotype: Short stature (HP:0004322)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
Phenotype: Sprengel anomaly (HP:0000912)
Associated disease: DIAMOND-BLACKFAN ANEMIA 7 (OMIM:612562)
Gene: RPL11
Phenotype: Sprengel anomaly (HP:0000912)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
Phenotype: Pallor (HP:0000980)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
Phenotype: Osteoporosis (HP:0000939)
Associated disease: DIAMOND-BLACKFAN ANEMIA 7 (OMIM:612562)
Gene: RPL11
Phenotype: Osteopenia (HP:0000938)
Associated disease: DIAMOND-BLACKFAN ANEMIA 7 (OMIM:612562)
Gene: RPL11
Phenotype: Epicanthus (HP:0000286)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
Phenotype: Abnormality of the upper limb (HP:0002817)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
Phenotype: Abnormality of the head (HP:0000234)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
Phenotype: Microcephaly (HP:0000252)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
Phenotype: High palate (HP:0000218)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL11
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: DIAMOND-BLACKFAN ANEMIA 7 (OMIM:612562)