TaoMedAI/RareMedData huggingface dataset:
Gene: GPHN
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C (OMIM:615501)
Gene: GPHN
Phenotype: Exaggerated startle response (HP:0002267)
Associated disease: HYPEREKPLEXIA 1 (OMIM:149400)
Gene: GPHN
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPEREKPLEXIA 1 (OMIM:149400)
Gene: GPHN
Phenotype: Molybdenum cofactor deficiency (HP:0003570)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C (OMIM:615501)
Gene: GPHN
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GPHN
Phenotype: Hypouricemia (HP:0003537)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C (OMIM:615501)
Gene: GPHN
Phenotype: Hernia (HP:0100790)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GPHN
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C (OMIM:615501)
Gene: GPHN
Phenotype: Fasciculations (HP:0002380)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GPHN
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GPHN
Phenotype: Frequent falls (HP:0002359)
Associated disease: HYPEREKPLEXIA 1 (OMIM:149400)
Gene: GPHN
Phenotype: Hypokinesia (HP:0002375)
Associated disease: HYPEREKPLEXIA 1 (OMIM:149400)
Gene: GPHN
Phenotype: Esophagitis (HP:0100633)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GPHN
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C (OMIM:615501)
Gene: GPHN
Phenotype: Sulfite oxidase deficiency (HP:0003643)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C (OMIM:615501)
Gene: GPHN
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C (OMIM:615501)
Gene: GPHN
Phenotype: Nocturnal seizures (HP:0031951)
Associated disease: HYPEREKPLEXIA 1 (OMIM:149400)
Gene: GPHN
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GPHN
Phenotype: Increased urinary taurine (HP:0003166)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C (OMIM:615501)
Gene: GPHN
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C (OMIM:615501)
Gene: GPHN
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GPHN
Phenotype: Hip dislocation (HP:0002827)
Associated disease: HYPEREKPLEXIA 1 (OMIM:149400)
Gene: GPHN
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GPHN
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: HYPEREKPLEXIA 1 (OMIM:149400)
Gene: GPHN
Phenotype: Aspiration (HP:0002835)
Associated disease: HYPEREKPLEXIA 1 (OMIM:149400)
Gene: SPRY2
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: IgA NEPHROPATHY, SUSCEPTIBILITY TO, 3 (OMIM:616818)
Gene: SPRY2
Phenotype: Proteinuria (HP:0000093)
Associated disease: IgA NEPHROPATHY, SUSCEPTIBILITY TO, 3 (OMIM:616818)
Gene: SPRY2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: IgA NEPHROPATHY, SUSCEPTIBILITY TO, 3 (OMIM:616818)
Gene: SPRY2
Phenotype: Progressive (HP:0003676)
Associated disease: IgA NEPHROPATHY, SUSCEPTIBILITY TO, 3 (OMIM:616818)
Gene: SPRY2
Phenotype: Young adult onset (HP:0011462)
Associated disease: IgA NEPHROPATHY, SUSCEPTIBILITY TO, 3 (OMIM:616818)
Gene: SPRY2
Phenotype: IgA deposition in the glomerulus (HP:0000794)
Associated disease: IgA NEPHROPATHY, SUSCEPTIBILITY TO, 3 (OMIM:616818)
Gene: SPRY2
Phenotype: Hematuria (HP:0000790)
Associated disease: IgA NEPHROPATHY, SUSCEPTIBILITY TO, 3 (OMIM:616818)
Gene: SPRY2
Phenotype: Hypertension (HP:0000822)
Associated disease: IgA NEPHROPATHY, SUSCEPTIBILITY TO, 3 (OMIM:616818)
Gene: SPRY2
Phenotype: Mesangial hypercellularity (HP:0012574)
Associated disease: IgA NEPHROPATHY, SUSCEPTIBILITY TO, 3 (OMIM:616818)
Gene: SF3B4
Phenotype: Abnormal thumb morphology (HP:0001172)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: Mandibulofacial dysostosis with preaxial limb anomalies; Nager syndrome; NAFD; Nager acrofacial dysostosis; Preaxial acrodysostosis (ORPHA:245)
Gene: SF3B4
Phenotype: Microtia (HP:0008551)
Associated disease: Mandibulofacial dysostosis with preaxial limb anomalies; Nager syndrome; NAFD; Nager acrofacial dysostosis; Preaxial acrodysostosis (ORPHA:245)
Gene: SF3B4
Phenotype: Microtia (HP:0008551)
Associated disease: Acrofacial dysostosis, Rodríguez type (ORPHA:1788)
Gene: SF3B4
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SF3B4
Phenotype: Aqueductal stenosis (HP:0002410)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Aqueductal stenosis (HP:0002410)
Associated disease: Acrofacial dysostosis, Rodríguez type (ORPHA:1788)
Gene: SF3B4
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SF3B4
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Acrofacial dysostosis, Rodríguez type (ORPHA:1788)
Gene: SF3B4
Phenotype: Laryngeal hypoplasia (HP:0008749)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: Mandibulofacial dysostosis with preaxial limb anomalies; Nager syndrome; NAFD; Nager acrofacial dysostosis; Preaxial acrodysostosis (ORPHA:245)
Gene: SF3B4
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Acrofacial dysostosis, Rodríguez type (ORPHA:1788)
Gene: SF3B4
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SF3B4
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Mandibulofacial dysostosis with preaxial limb anomalies; Nager syndrome; NAFD; Nager acrofacial dysostosis; Preaxial acrodysostosis (ORPHA:245)
Gene: SF3B4
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SF3B4
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SF3B4
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SF3B4
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Mandibulofacial dysostosis with preaxial limb anomalies; Nager syndrome; NAFD; Nager acrofacial dysostosis; Preaxial acrodysostosis (ORPHA:245)
Gene: SF3B4
Phenotype: Scoliosis (HP:0002650)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SF3B4
Phenotype: Absent radius (HP:0003974)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: Acrofacial dysostosis, Rodríguez type (ORPHA:1788)
Gene: SF3B4
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SF3B4
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Cleft soft palate (HP:0000185)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Cleft palate (HP:0000175)
Associated disease: Mandibulofacial dysostosis with preaxial limb anomalies; Nager syndrome; NAFD; Nager acrofacial dysostosis; Preaxial acrodysostosis (ORPHA:245)
Gene: SF3B4
Phenotype: Cleft palate (HP:0000175)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Abnormal palate morphology (HP:0000174)
Associated disease: Mandibulofacial dysostosis with preaxial limb anomalies; Nager syndrome; NAFD; Nager acrofacial dysostosis; Preaxial acrodysostosis (ORPHA:245)
Gene: SF3B4
Phenotype: Wide mouth (HP:0000154)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Wide mouth (HP:0000154)
Associated disease: Mandibulofacial dysostosis with preaxial limb anomalies; Nager syndrome; NAFD; Nager acrofacial dysostosis; Preaxial acrodysostosis (ORPHA:245)
Gene: SF3B4
Phenotype: Lacrimal duct stenosis (HP:0007678)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Absent lower eyelashes (HP:0007646)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: Mandibulofacial dysostosis with preaxial limb anomalies; Nager syndrome; NAFD; Nager acrofacial dysostosis; Preaxial acrodysostosis (ORPHA:245)
Gene: SF3B4
Phenotype: Abnormality of the uterus (HP:0000130)
Associated disease: Acrofacial dysostosis, Rodríguez type (ORPHA:1788)
Gene: SF3B4
Phenotype: 4-5 toe syndactyly (HP:0004692)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Acrofacial dysostosis, Rodríguez type (ORPHA:1788)
Gene: SF3B4
Phenotype: Abnormality of the cervical spine (HP:0003319)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Midface retrusion (HP:0011800)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Mandibulofacial dysostosis with preaxial limb anomalies; Nager syndrome; NAFD; Nager acrofacial dysostosis; Preaxial acrodysostosis (ORPHA:245)
Gene: SF3B4
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SF3B4
Phenotype: Radial deviation of finger (HP:0009466)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Arrhinencephaly (HP:0002139)
Associated disease: Acrofacial dysostosis, Rodríguez type (ORPHA:1788)
Gene: SF3B4
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Aplasia/Hypoplasia of the thumb (HP:0009601)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Aplasia/Hypoplasia of the thumb (HP:0009601)
Associated disease: Mandibulofacial dysostosis with preaxial limb anomalies; Nager syndrome; NAFD; Nager acrofacial dysostosis; Preaxial acrodysostosis (ORPHA:245)
Gene: SF3B4
Phenotype: Preauricular hair displacement (HP:0009554)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Congenital onset (HP:0003577)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Hypoplasia of the zygomatic bone (HP:0010669)
Associated disease: Mandibulofacial dysostosis with preaxial limb anomalies; Nager syndrome; NAFD; Nager acrofacial dysostosis; Preaxial acrodysostosis (ORPHA:245)
Gene: SF3B4
Phenotype: Symphalangism of the thumb (HP:0009656)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Urticaria (HP:0001025)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SF3B4
Phenotype: Bilateral radial aplasia (HP:0004977)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Phocomelia (HP:0009829)
Associated disease: Mandibulofacial dysostosis with preaxial limb anomalies; Nager syndrome; NAFD; Nager acrofacial dysostosis; Preaxial acrodysostosis (ORPHA:245)
Gene: SF3B4
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Absent thumb (HP:0009777)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Short thumb (HP:0009778)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SF3B4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SF3B4
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SF3B4
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SF3B4
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SF3B4
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SF3B4
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Broad hallux (HP:0010055)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Short 1st metacarpal (HP:0010034)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Lower eyelid coloboma (HP:0000652)
Associated disease: Mandibulofacial dysostosis with preaxial limb anomalies; Nager syndrome; NAFD; Nager acrofacial dysostosis; Preaxial acrodysostosis (ORPHA:245)
Gene: SF3B4
Phenotype: Lower eyelid coloboma (HP:0000652)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SF3B4
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Short stature (HP:0004322)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Mandibulofacial dysostosis with preaxial limb anomalies; Nager syndrome; NAFD; Nager acrofacial dysostosis; Preaxial acrodysostosis (ORPHA:245)
Gene: SF3B4
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Acrofacial dysostosis, Rodríguez type (ORPHA:1788)
Gene: SF3B4
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SF3B4
Phenotype: Fibular hypoplasia (HP:0003038)
Associated disease: Acrofacial dysostosis, Rodríguez type (ORPHA:1788)
Gene: SF3B4
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SF3B4
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Mandibulofacial dysostosis with preaxial limb anomalies; Nager syndrome; NAFD; Nager acrofacial dysostosis; Preaxial acrodysostosis (ORPHA:245)
Gene: SF3B4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Short hallux (HP:0010109)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Sprengel anomaly (HP:0000912)
Associated disease: Acrofacial dysostosis, Rodríguez type (ORPHA:1788)
Gene: SF3B4
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SF3B4
Phenotype: Cervical ribs (HP:0000891)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Non-midline cleft of the upper lip (HP:0100335)
Associated disease: Mandibulofacial dysostosis with preaxial limb anomalies; Nager syndrome; NAFD; Nager acrofacial dysostosis; Preaxial acrodysostosis (ORPHA:245)
Gene: SF3B4
Phenotype: Bicornuate uterus (HP:0000813)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SF3B4
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Short 5th finger (HP:0009237)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SF3B4
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Finger aplasia (HP:0009380)
Associated disease: Acrofacial dysostosis, Rodríguez type (ORPHA:1788)
Gene: SF3B4
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Retrognathia (HP:0000278)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Malar flattening (HP:0000272)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Malar flattening (HP:0000272)
Associated disease: Acrofacial dysostosis, Rodríguez type (ORPHA:1788)
Gene: SF3B4
Phenotype: Sparse lower eyelashes (HP:0007776)
Associated disease: Mandibulofacial dysostosis with preaxial limb anomalies; Nager syndrome; NAFD; Nager acrofacial dysostosis; Preaxial acrodysostosis (ORPHA:245)
Gene: SF3B4
Phenotype: Sparse lower eyelashes (HP:0007776)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Abnormal nasal morphology (HP:0005105)
Associated disease: Mandibulofacial dysostosis with preaxial limb anomalies; Nager syndrome; NAFD; Nager acrofacial dysostosis; Preaxial acrodysostosis (ORPHA:245)
Gene: SF3B4
Phenotype: Abnormality of the lower limb (HP:0002814)
Associated disease: Mandibulofacial dysostosis with preaxial limb anomalies; Nager syndrome; NAFD; Nager acrofacial dysostosis; Preaxial acrodysostosis (ORPHA:245)
Gene: SF3B4
Phenotype: Hip dislocation (HP:0002827)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Clinodactyly (HP:0030084)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Microcephaly (HP:0000252)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)