TaoMedAI/RareMedData huggingface dataset:
Gene: CRTAP
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: CRTAP
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE VII (OMIM:610682)
Gene: CRTAP
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Dentinogenesis imperfecta (HP:0000703)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE VII (OMIM:610682)
Gene: CRTAP
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Fetal onset (HP:0011461)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CRTAP
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Narrow chest (HP:0000774)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE VII (OMIM:610682)
Gene: CRTAP
Phenotype: Diaphragmatic eventration (HP:0009110)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CRTAP
Phenotype: Short nose (HP:0003196)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CRTAP
Phenotype: Platyspondyly (HP:0000926)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CRTAP
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Platyspondyly (HP:0000926)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CRTAP
Phenotype: Protrusio acetabuli (HP:0003179)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE VII (OMIM:610682)
Gene: CRTAP
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRTAP
Phenotype: Hypoplasia of the capital femoral epiphysis (HP:0003090)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CRTAP
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRTAP
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Severe platyspondyly (HP:0004565)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CRTAP
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRTAP
Phenotype: Multiple prenatal fractures (HP:0005855)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE VII (OMIM:610682)
Gene: CRTAP
Phenotype: Biconcave vertebral bodies (HP:0004586)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CRTAP
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CRTAP
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Osteoporosis (HP:0000939)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CRTAP
Phenotype: Osteopenia (HP:0000938)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CRTAP
Phenotype: Osteopenia (HP:0000938)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CRTAP
Phenotype: Osteopenia (HP:0000938)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE VII (OMIM:610682)
Gene: CRTAP
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: CRTAP
Phenotype: Absent anterior chamber of the eye (HP:0008037)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CRTAP
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE VII (OMIM:610682)
Gene: CRTAP
Phenotype: Turricephaly (HP:0000262)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: CRTAP
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE VII (OMIM:610682)
Gene: CRTAP
Phenotype: Malar flattening (HP:0000272)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CRTAP
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CRTAP
Phenotype: Coxa vara (HP:0002812)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE VII (OMIM:610682)
Gene: CRTAP
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Kyphosis (HP:0002808)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CRTAP
Phenotype: Kyphosis (HP:0002808)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: CRTAP
Phenotype: Crumpled long bones (HP:0006367)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE VII (OMIM:610682)
Gene: CRTAP
Phenotype: Crumpled long bones (HP:0006367)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: CRTAP
Phenotype: Microcephaly (HP:0000252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CRTAP
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CRTAP
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRTAP
Phenotype: Death in infancy (HP:0001522)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE VII (OMIM:610682)
Gene: CRTAP
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRTAP
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: CRTAP
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CRTAP
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRTAP
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Flat face (HP:0012368)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CRTAP
Phenotype: Exudative retinopathy (HP:0007898)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CRTAP
Phenotype: Congenital blindness (HP:0007875)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CRTAP
Phenotype: Retinal calcification (HP:0007862)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CRTAP
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: CRTAP
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: CRTAP
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRTAP
Phenotype: Hearing abnormality (HP:0000364)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE VII (OMIM:610682)
Gene: CRTAP
Phenotype: Low-set ears (HP:0000369)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CRTAP
Phenotype: Long philtrum (HP:0000343)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE VII (OMIM:610682)
Gene: CRTAP
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRTAP
Phenotype: Micrognathia (HP:0000347)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: CRTAP
Phenotype: Tibial bowing (HP:0002982)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CRTAP
Phenotype: Micromelia (HP:0002983)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE VII (OMIM:610682)
Gene: CRTAP
Phenotype: Bowing of the legs (HP:0002979)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE VII (OMIM:610682)
Gene: CRTAP
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Round face (HP:0000311)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE VII (OMIM:610682)
Gene: CRTAP
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CRTAP
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CRTAP
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE VII (OMIM:610682)
Gene: CRTAP
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CRTAP
Phenotype: Breech presentation (HP:0001623)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE VII (OMIM:610682)
Gene: CRTAP
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Pointed chin (HP:0000307)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CRTAP
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRTAP
Phenotype: Hypoplastic pulmonary veins (HP:0005304)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE VII (OMIM:610682)
Gene: CRTAP
Phenotype: Multiple rib fractures (HP:0006640)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE VII (OMIM:610682)
Gene: CRTAP
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CRTAP
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: CRTAP
Phenotype: Anteverted nares (HP:0000463)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CRTAP
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CRTAP
Phenotype: Decreased calvarial ossification (HP:0005474)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE VII (OMIM:610682)
Gene: CRTAP
Phenotype: Cataract (HP:0000518)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CRTAP
Phenotype: Cataract (HP:0000518)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CRTAP
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Proptosis (HP:0000520)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: CRTAP
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRTAP
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Proptosis (HP:0000520)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE VII (OMIM:610682)
Gene: CRTAP
Phenotype: Blue sclerae (HP:0000592)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: CRTAP
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Blue sclerae (HP:0000592)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE VII (OMIM:610682)
Gene: CRTAP
Phenotype: Shallow orbits (HP:0000586)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CRTAP
Phenotype: Microphthalmia (HP:0000568)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CRTAP
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRTAP
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CRTAP
Phenotype: Myopia (HP:0000545)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEMA6B
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 11 (OMIM:618876)
Gene: SEMA6B
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 11 (OMIM:618876)
Gene: SEMA6B
Phenotype: Seizure (HP:0001250)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 11 (OMIM:618876)
Gene: SEMA6B
Phenotype: Ataxia (HP:0001251)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 11 (OMIM:618876)
Gene: SEMA6B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 11 (OMIM:618876)
Gene: SEMA6B
Phenotype: Typically de novo (HP:0025352)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 11 (OMIM:618876)
Gene: SEMA6B
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 11 (OMIM:618876)
Gene: SEMA6B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 11 (OMIM:618876)
Gene: SEMA6B
Phenotype: Myoclonus (HP:0001336)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 11 (OMIM:618876)
Gene: SEMA6B
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 11 (OMIM:618876)
Gene: SEMA6B
Phenotype: Giant somatosensory evoked potentials (HP:0001312)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 11 (OMIM:618876)
Gene: SEMA6B
Phenotype: Systemic lupus erythematosus (HP:0002725)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 11 (OMIM:618876)
Gene: SEMA6B
Phenotype: Intention tremor (HP:0002080)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 11 (OMIM:618876)
Gene: SEMA6B
Phenotype: Rigidity (HP:0002063)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 11 (OMIM:618876)
Gene: SEMA6B
Phenotype: Developmental regression (HP:0002376)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 11 (OMIM:618876)
Gene: SEMA6B
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 11 (OMIM:618876)
Gene: SEMA6B
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 11 (OMIM:618876)
Gene: SEMA4D
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Palmar telangiectasia (HP:0100869)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Cholestasis (HP:0001396)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Celiac disease (HP:0002608)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Hepatitis (HP:0012115)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Portal hypertension (HP:0001409)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Decreased circulating vitamin D concentration (HP:0100512)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Decreased circulating vitamin E concentration (HP:0100513)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Neoplasm of the gallbladder (HP:0100575)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Adenocarcinoma of the large intestine (HP:0040275)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Prolonged prothrombin time (HP:0008151)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Polyclonal elevation of IgM (HP:0003459)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Decreased circulating vitamin K concentration (HP:0011892)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Pleural effusion (HP:0002202)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Histiocytosis (HP:0100727)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Elevated alkaline phosphatase of hepatic origin (HP:0010638)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Thyroiditis (HP:0100646)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Chronic hepatic failure (HP:0100626)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Reduced circulating vitamin A concentration (HP:0004905)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Fever (HP:0001945)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Abnormal large intestine physiology (HP:0012700)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Depression (HP:0000716)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Ulcerative colitis (HP:0100279)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Pruritus (HP:0000989)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Jaundice (HP:0000952)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Osteopenia (HP:0000938)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Ascites (HP:0001541)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Fatigue (HP:0012378)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Amyloidosis (HP:0011034)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Acute hepatic failure (HP:0006554)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Cholangiocarcinoma (HP:0030153)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Dilated superficial abdominal veins (HP:0030168)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Pancreatitis (HP:0001733)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Abnormal biliary tract morphology (HP:0012440)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Recurrent systemic pyogenic infections (HP:0005429)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Weight loss (HP:0001824)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Uveitis (HP:0000554)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Spider hemangioma (HP:0012522)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA4D
Phenotype: Abnormal eosinophil morphology (HP:0001879)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: SEMA3C
Phenotype: Sepsis (HP:0100806)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)