TaoMedAI/RareMedData huggingface dataset:
Gene: MAFB
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Idiopathic multicentric osteolysis with or without nephropathy; Multicentric carpo-tarsal osteolysis with or without nephropathy (ORPHA:2774)
Gene: MAFB
Phenotype: Pes cavus (HP:0001761)
Associated disease: MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME (OMIM:166300)
Gene: MAFB
Phenotype: Compensatory head posture (HP:0031705)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Aniridia (HP:0000526)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAFB
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Proptosis (HP:0000520)
Associated disease: Idiopathic multicentric osteolysis with or without nephropathy; Multicentric carpo-tarsal osteolysis with or without nephropathy (ORPHA:2774)
Gene: MAFB
Phenotype: Proptosis (HP:0000520)
Associated disease: MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME (OMIM:166300)
Gene: MAFB
Phenotype: Telecanthus (HP:0000506)
Associated disease: Idiopathic multicentric osteolysis with or without nephropathy; Multicentric carpo-tarsal osteolysis with or without nephropathy (ORPHA:2774)
Gene: MAFB
Phenotype: Ptosis (HP:0000508)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Bilateral renal atrophy (HP:0012586)
Associated disease: MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME (OMIM:166300)
Gene: MAFB
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAFB
Phenotype: Impaired ocular adduction (HP:0000542)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Impaired ocular adduction (HP:0000542)
Associated disease: DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS (OMIM:617041)
Gene: RBM8A
Phenotype: Adducted thumb (HP:0001181)
Associated disease: TAR syndrome; Thrombocytopenia-absent radius syndrome (ORPHA:3320)
Gene: RBM8A
Phenotype: Adducted thumb (HP:0001181)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Dilatation of the renal pelvis (HP:0010946)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Spina bifida (HP:0002414)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBM8A
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBM8A
Phenotype: Motor delay (HP:0001270)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Seizure (HP:0001250)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: TAR syndrome; Thrombocytopenia-absent radius syndrome (ORPHA:3320)
Gene: RBM8A
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Nevus flammeus of the forehead (HP:0007413)
Associated disease: TAR syndrome; Thrombocytopenia-absent radius syndrome (ORPHA:3320)
Gene: RBM8A
Phenotype: Nevus flammeus of the forehead (HP:0007413)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBM8A
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: TAR syndrome; Thrombocytopenia-absent radius syndrome (ORPHA:3320)
Gene: RBM8A
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: TAR syndrome; Thrombocytopenia-absent radius syndrome (ORPHA:3320)
Gene: RBM8A
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Ureteral duplication (HP:0000073)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBM8A
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Edema of the dorsum of hands (HP:0007514)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Edema of the dorsum of feet (HP:0012098)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBM8A
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Coxa valga (HP:0002673)
Associated disease: TAR syndrome; Thrombocytopenia-absent radius syndrome (ORPHA:3320)
Gene: RBM8A
Phenotype: Coxa valga (HP:0002673)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBM8A
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBM8A
Phenotype: Scoliosis (HP:0002650)
Associated disease: TAR syndrome; Thrombocytopenia-absent radius syndrome (ORPHA:3320)
Gene: RBM8A
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Absent radius (HP:0003974)
Associated disease: TAR syndrome; Thrombocytopenia-absent radius syndrome (ORPHA:3320)
Gene: RBM8A
Phenotype: Absent radius (HP:0003974)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBM8A
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Carpal bone hypoplasia (HP:0001498)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Cleft palate (HP:0000175)
Associated disease: TAR syndrome; Thrombocytopenia-absent radius syndrome (ORPHA:3320)
Gene: RBM8A
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Cleft palate (HP:0000175)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Aplasia of the uterus (HP:0000151)
Associated disease: TAR syndrome; Thrombocytopenia-absent radius syndrome (ORPHA:3320)
Gene: RBM8A
Phenotype: Aplasia of the uterus (HP:0000151)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Shoulder muscle hypoplasia (HP:0008952)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: TAR syndrome; Thrombocytopenia-absent radius syndrome (ORPHA:3320)
Gene: RBM8A
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Syringomyelia (HP:0003396)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBM8A
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Ulnar deviation of the hand (HP:0009487)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Radial deviation of the hand (HP:0009486)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Axial malrotation of the kidney (HP:0004717)
Associated disease: TAR syndrome; Thrombocytopenia-absent radius syndrome (ORPHA:3320)
Gene: RBM8A
Phenotype: Axial malrotation of the kidney (HP:0004717)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Renal malrotation (HP:0004712)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Meckel diverticulum (HP:0002245)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Congenital onset (HP:0003577)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Carpal synostosis (HP:0009702)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Cavum septum pellucidum (HP:0002389)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Seborrheic dermatitis (HP:0001051)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBM8A
Phenotype: Bilateral radial aplasia (HP:0004977)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Phocomelia (HP:0009829)
Associated disease: TAR syndrome; Thrombocytopenia-absent radius syndrome (ORPHA:3320)
Gene: RBM8A
Phenotype: Phocomelia (HP:0009829)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Tibial torsion (HP:0100694)
Associated disease: TAR syndrome; Thrombocytopenia-absent radius syndrome (ORPHA:3320)
Gene: RBM8A
Phenotype: Tibial torsion (HP:0100694)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Absent thumb (HP:0009777)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Short thumb (HP:0009778)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBM8A
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBM8A
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBM8A
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TAR syndrome; Thrombocytopenia-absent radius syndrome (ORPHA:3320)
Gene: RBM8A
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBM8A
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBM8A
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: TAR syndrome; Thrombocytopenia-absent radius syndrome (ORPHA:3320)
Gene: RBM8A
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBM8A
Phenotype: Anemia (HP:0001903)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBM8A
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Broad thumb (HP:0011304)
Associated disease: TAR syndrome; Thrombocytopenia-absent radius syndrome (ORPHA:3320)
Gene: RBM8A
Phenotype: Broad thumb (HP:0011304)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Short stature (HP:0004322)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBM8A
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBM8A
Phenotype: Ulnar bowing (HP:0003031)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Abnormal shoulder morphology (HP:0003043)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Short forearm (HP:0005773)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBM8A
Phenotype: Cervical ribs (HP:0000891)
Associated disease: TAR syndrome; Thrombocytopenia-absent radius syndrome (ORPHA:3320)
Gene: RBM8A
Phenotype: Cervical ribs (HP:0000891)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Cow milk allergy (HP:0100327)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBM8A
Phenotype: Lateral clavicle hook (HP:0000895)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBM8A
Phenotype: Facial capillary hemangioma (HP:0000996)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Malar flattening (HP:0000272)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Patellar aplasia (HP:0006443)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Hip dislocation (HP:0002827)
Associated disease: TAR syndrome; Thrombocytopenia-absent radius syndrome (ORPHA:3320)
Gene: RBM8A
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Hip dislocation (HP:0002827)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Brachycephaly (HP:0000248)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBM8A
Phenotype: Death in infancy (HP:0001522)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBM8A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Aplasia/hypoplasia of the humerus (HP:0006507)
Associated disease: TAR syndrome; Thrombocytopenia-absent radius syndrome (ORPHA:3320)
Gene: RBM8A
Phenotype: Aplasia/hypoplasia of the humerus (HP:0006507)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBM8A
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Fused cervical vertebrae (HP:0002949)
Associated disease: TAR syndrome; Thrombocytopenia-absent radius syndrome (ORPHA:3320)
Gene: RBM8A
Phenotype: Fused cervical vertebrae (HP:0002949)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Aplasia/Hypoplasia of the ulna (HP:0006495)
Associated disease: TAR syndrome; Thrombocytopenia-absent radius syndrome (ORPHA:3320)
Gene: RBM8A
Phenotype: Aplasia/Hypoplasia of the patella (HP:0006498)
Associated disease: TAR syndrome; Thrombocytopenia-absent radius syndrome (ORPHA:3320)
Gene: RBM8A
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBM8A
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: TAR syndrome; Thrombocytopenia-absent radius syndrome (ORPHA:3320)
Gene: RBM8A
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: TAR syndrome; Thrombocytopenia-absent radius syndrome (ORPHA:3320)
Gene: RBM8A
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBM8A
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBM8A
Phenotype: Broad forehead (HP:0000337)
Associated disease: TAR syndrome; Thrombocytopenia-absent radius syndrome (ORPHA:3320)
Gene: RBM8A
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: TAR syndrome; Thrombocytopenia-absent radius syndrome (ORPHA:3320)
Gene: RBM8A
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: High forehead (HP:0000348)
Associated disease: TAR syndrome; Thrombocytopenia-absent radius syndrome (ORPHA:3320)
Gene: RBM8A
Phenotype: Micrognathia (HP:0000347)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Micrognathia (HP:0000347)
Associated disease: TAR syndrome; Thrombocytopenia-absent radius syndrome (ORPHA:3320)
Gene: RBM8A
Phenotype: Prolonged bleeding following circumcision (HP:0030137)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Femoral bowing (HP:0002980)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Gene: RBM8A
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)