TaoMedAI/RareMedData huggingface dataset:
Gene: NPR3
Phenotype: Narrow nasal ridge (HP:0000418)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: NPR3
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: NPR3
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: NPR3
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: NPR3
Phenotype: Pes cavus (HP:0001761)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: NPR3
Phenotype: Cataract (HP:0000518)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: NPR3
Phenotype: Long hallux (HP:0001847)
Associated disease: BOUDIN-MORTIER SYNDROME (OMIM:619543)
Gene: NPR3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: NPR3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: NPR3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: NPR3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPR3
Phenotype: Foot acroosteolysis (HP:0001842)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: NPR3
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NPR3
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPR3
Phenotype: Proptosis (HP:0000520)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: NPR3
Phenotype: Telecanthus (HP:0000506)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: NPR3
Phenotype: Ptosis (HP:0000508)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: NPR3
Phenotype: Camptodactyly of toe (HP:0001836)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: NPR3
Phenotype: Glaucoma (HP:0000501)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: NPR3
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: NPR3
Phenotype: Exotropia (HP:0000577)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: NPR3
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPR3
Phenotype: Shallow orbits (HP:0000586)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: NPR3
Phenotype: Keratoconus (HP:0000563)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: NPR3
Phenotype: Keratoconus (HP:0000563)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: NPR3
Phenotype: Prominent forehead (HP:0011220)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: NPR3
Phenotype: Esotropia (HP:0000565)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: NPR3
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: NPR3
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPR3
Phenotype: Talipes (HP:0001883)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: NPR3
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NPR3
Phenotype: Myopia (HP:0000545)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: NPR3
Phenotype: Myopia (HP:0000545)
Associated disease: BOUDIN-MORTIER SYNDROME (OMIM:619543)
Gene: NPR3
Phenotype: Myopia (HP:0000545)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: NPR3
Phenotype: Myopia (HP:0000545)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: NPR3
Phenotype: Myopia (HP:0000545)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: NPTX1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA 50 (OMIM:620158)
Gene: NPTX1
Phenotype: Ataxia (HP:0001251)
Associated disease: SPINOCEREBELLAR ATAXIA 50 (OMIM:620158)
Gene: NPTX1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPINOCEREBELLAR ATAXIA 50 (OMIM:620158)
Gene: NPTX1
Phenotype: Myoclonus (HP:0001336)
Associated disease: SPINOCEREBELLAR ATAXIA 50 (OMIM:620158)
Gene: NPTX1
Phenotype: Chorea (HP:0002072)
Associated disease: SPINOCEREBELLAR ATAXIA 50 (OMIM:620158)
Gene: NPTX1
Phenotype: Apraxia (HP:0002186)
Associated disease: SPINOCEREBELLAR ATAXIA 50 (OMIM:620158)
Gene: NPTX1
Phenotype: Postural tremor (HP:0002174)
Associated disease: SPINOCEREBELLAR ATAXIA 50 (OMIM:620158)
Gene: NPTX1
Phenotype: Middle age onset (HP:0003596)
Associated disease: SPINOCEREBELLAR ATAXIA 50 (OMIM:620158)
Gene: NPTX1
Phenotype: Late onset (HP:0003584)
Associated disease: SPINOCEREBELLAR ATAXIA 50 (OMIM:620158)
Gene: NPTX1
Phenotype: Action tremor (HP:0002345)
Associated disease: SPINOCEREBELLAR ATAXIA 50 (OMIM:620158)
Gene: NPTX1
Phenotype: Memory impairment (HP:0002354)
Associated disease: SPINOCEREBELLAR ATAXIA 50 (OMIM:620158)
Gene: NPTX1
Phenotype: Head tremor (HP:0002346)
Associated disease: SPINOCEREBELLAR ATAXIA 50 (OMIM:620158)
Gene: NPTX1
Phenotype: Froment sign (HP:0032121)
Associated disease: SPINOCEREBELLAR ATAXIA 50 (OMIM:620158)
Gene: NPTX1
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: SPINOCEREBELLAR ATAXIA 50 (OMIM:620158)
Gene: NPTX1
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPINOCEREBELLAR ATAXIA 50 (OMIM:620158)
Gene: NPTX1
Phenotype: Diplopia (HP:0000651)
Associated disease: SPINOCEREBELLAR ATAXIA 50 (OMIM:620158)
Gene: NPTX1
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPINOCEREBELLAR ATAXIA 50 (OMIM:620158)
Gene: NPTX1
Phenotype: Impaired executive functioning (HP:0033051)
Associated disease: SPINOCEREBELLAR ATAXIA 50 (OMIM:620158)
Gene: NPTX1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SPINOCEREBELLAR ATAXIA 50 (OMIM:620158)
Gene: NPTX1
Phenotype: Ptosis (HP:0000508)
Associated disease: SPINOCEREBELLAR ATAXIA 50 (OMIM:620158)
Gene: SLC11A2
Phenotype: Hypochromia (HP:0032231)
Associated disease: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1 (OMIM:206100)
Gene: SLC11A2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1 (OMIM:206100)
Gene: SLC11A2
Phenotype: Erythroid hyperplasia (HP:0012132)
Associated disease: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1 (OMIM:206100)
Gene: SLC11A2
Phenotype: Increased circulating iron concentration (HP:0003452)
Associated disease: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1 (OMIM:206100)
Gene: SLC11A2
Phenotype: Infantile onset (HP:0003593)
Associated disease: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1 (OMIM:206100)
Gene: SLC11A2
Phenotype: Decreased mean corpuscular volume (HP:0025066)
Associated disease: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1 (OMIM:206100)
Gene: SLC11A2
Phenotype: Anemia (HP:0001903)
Associated disease: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1 (OMIM:206100)
Gene: SLC11A2
Phenotype: Elevated hepatic iron concentration (HP:0012465)
Associated disease: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1 (OMIM:206100)
Gene: NRAS
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: NRAS
Phenotype: Abnormal finger morphology (HP:0001167)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: NRAS
Phenotype: Dilatation of the renal pelvis (HP:0010946)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: NRAS
Phenotype: Single umbilical artery (HP:0001195)
Associated disease: NOONAN SYNDROME 6 (OMIM:613224)
Gene: NRAS
Phenotype: Sporadic (HP:0003745)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: NRAS
Phenotype: Sporadic (HP:0003745)
Associated disease: MELANOSIS, NEUROCUTANEOUS (OMIM:249400)
Gene: NRAS
Phenotype: Nevus (HP:0003764)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: NRAS
Phenotype: Nevus (HP:0003764)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: NRAS
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NRAS
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NRAS
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: NOONAN SYNDROME 6 (OMIM:613224)
Gene: NRAS
Phenotype: Motor delay (HP:0001270)
Associated disease: NOONAN SYNDROME 6 (OMIM:613224)
Gene: NRAS
Phenotype: Increased total lymphocyte count (HP:0100827)
Associated disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER (OMIM:614470)
Gene: NRAS
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: NRAS
Phenotype: Mental deterioration (HP:0001268)
Associated disease: MELANOSIS, NEUROCUTANEOUS (OMIM:249400)
Gene: NRAS
Phenotype: Seizure (HP:0001250)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: NRAS
Phenotype: Seizure (HP:0001250)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: NRAS
Phenotype: Seizure (HP:0001250)
Associated disease: Solomon syndrome; Nevus sebaceus syndrome; Organoid nevus syndrome; Linear nevus sebaceus syndrome; Nevus sebaceus of Jadassohn; Schimmelpenning syndrome (ORPHA:2612)
Gene: NRAS
Phenotype: Seizure (HP:0001250)
Associated disease: MELANOSIS, NEUROCUTANEOUS (OMIM:249400)
Gene: NRAS
Phenotype: Hypotonia (HP:0001252)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: NRAS
Phenotype: Hypotonia (HP:0001252)
Associated disease: Solomon syndrome; Nevus sebaceus syndrome; Organoid nevus syndrome; Linear nevus sebaceus syndrome; Nevus sebaceus of Jadassohn; Schimmelpenning syndrome (ORPHA:2612)
Gene: NRAS
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NRAS
Phenotype: Ataxia (HP:0001251)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: NRAS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: NRAS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: NRAS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Solomon syndrome; Nevus sebaceus syndrome; Organoid nevus syndrome; Linear nevus sebaceus syndrome; Nevus sebaceus of Jadassohn; Schimmelpenning syndrome (ORPHA:2612)
Gene: NRAS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NRAS
Phenotype: Dysarthria (HP:0001260)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: NRAS
Phenotype: Dysarthria (HP:0001260)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: NRAS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MELANOSIS, NEUROCUTANEOUS (OMIM:249400)
Gene: NRAS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NRAS
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: Solomon syndrome; Nevus sebaceus syndrome; Organoid nevus syndrome; Linear nevus sebaceus syndrome; Nevus sebaceus of Jadassohn; Schimmelpenning syndrome (ORPHA:2612)
Gene: NRAS
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Solomon syndrome; Nevus sebaceus syndrome; Organoid nevus syndrome; Linear nevus sebaceus syndrome; Nevus sebaceus of Jadassohn; Schimmelpenning syndrome (ORPHA:2612)
Gene: NRAS
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Solomon syndrome; Nevus sebaceus syndrome; Organoid nevus syndrome; Linear nevus sebaceus syndrome; Nevus sebaceus of Jadassohn; Schimmelpenning syndrome (ORPHA:2612)
Gene: NRAS
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NRAS
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: NRAS
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Solomon syndrome; Nevus sebaceus syndrome; Organoid nevus syndrome; Linear nevus sebaceus syndrome; Nevus sebaceus of Jadassohn; Schimmelpenning syndrome (ORPHA:2612)
Gene: NRAS
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: NRAS
Phenotype: Hepatic failure (HP:0001399)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: NRAS
Phenotype: Cutaneous melanoma (HP:0012056)
Associated disease: MELANOCYTIC NEVUS SYNDROME, CONGENITAL (OMIM:137550)
Gene: NRAS
Phenotype: Cutaneous melanoma (HP:0012056)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: NRAS
Phenotype: Abnormality of the genital system (HP:0000078)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: NRAS
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: NRAS
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: NRAS
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NRAS
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Solomon syndrome; Nevus sebaceus syndrome; Organoid nevus syndrome; Linear nevus sebaceus syndrome; Nevus sebaceus of Jadassohn; Schimmelpenning syndrome (ORPHA:2612)
Gene: NRAS
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NRAS
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: Solomon syndrome; Nevus sebaceus syndrome; Organoid nevus syndrome; Linear nevus sebaceus syndrome; Nevus sebaceus of Jadassohn; Schimmelpenning syndrome (ORPHA:2612)
Gene: NRAS
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: NOONAN SYNDROME 6 (OMIM:613224)
Gene: NRAS
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: NRAS
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: NRAS
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NRAS
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: NRAS
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: NRAS
Phenotype: Abnormal dermatoglyphics (HP:0007477)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: NRAS
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: NRAS
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NRAS
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: NRAS
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NRAS
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NRAS
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: NRAS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NRAS
Phenotype: Lymphoma (HP:0002665)
Associated disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER (OMIM:614470)
Gene: NRAS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NRAS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NOONAN SYNDROME 6 (OMIM:613224)
Gene: NRAS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: NRAS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER (OMIM:614470)
Gene: NRAS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NRAS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: THYROID CANCER, NONMEDULLARY, 2 (OMIM:188470)
Gene: NRAS
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Solomon syndrome; Nevus sebaceus syndrome; Organoid nevus syndrome; Linear nevus sebaceus syndrome; Nevus sebaceus of Jadassohn; Schimmelpenning syndrome (ORPHA:2612)
Gene: NRAS
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: MELANOSIS, NEUROCUTANEOUS (OMIM:249400)
Gene: NRAS
Phenotype: Bone pain (HP:0002653)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: NRAS
Phenotype: Scoliosis (HP:0002650)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: NRAS
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NRAS
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Solomon syndrome; Nevus sebaceus syndrome; Organoid nevus syndrome; Linear nevus sebaceus syndrome; Nevus sebaceus of Jadassohn; Schimmelpenning syndrome (ORPHA:2612)
Gene: NRAS
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NRAS
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NRAS
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NRAS
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NRAS
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: NRAS
Phenotype: Open mouth (HP:0000194)
Associated disease: MELANOCYTIC NEVUS SYNDROME, CONGENITAL (OMIM:137550)
Gene: NRAS
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NRAS
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: NOONAN SYNDROME 6 (OMIM:613224)
Gene: NRAS
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NRAS
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NRAS
Phenotype: Osteolysis (HP:0002797)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: NRAS
Phenotype: Oral ulcer (HP:0000155)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: NRAS
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: NRAS
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: NRAS
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: NRAS
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: THYROID CANCER, NONMEDULLARY, 2 (OMIM:188470)
Gene: NRAS
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: NRAS
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: MELANOCYTIC NEVUS SYNDROME, CONGENITAL (OMIM:137550)
Gene: NRAS
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER (OMIM:614470)
Gene: NRAS
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: MELANOSIS, NEUROCUTANEOUS (OMIM:249400)
Gene: NRAS
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: NEVUS, EPIDERMAL (OMIM:162900)
Gene: NRAS
Phenotype: Decreased T cell apoptosis (HP:0002731)
Associated disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER (OMIM:614470)
Gene: NRAS
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: NRAS
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: NRAS
Phenotype: Recurrent infections (HP:0002719)
Associated disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER (OMIM:614470)
Gene: NRAS
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: NRAS
Phenotype: Follicular hyperplasia (HP:0002729)
Associated disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER (OMIM:614470)
Gene: NRAS
Phenotype: Deep philtrum (HP:0002002)
Associated disease: MELANOCYTIC NEVUS SYNDROME, CONGENITAL (OMIM:137550)
Gene: NRAS
Phenotype: Sclerosing cholangitis (HP:0030991)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: NRAS
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Solomon syndrome; Nevus sebaceus syndrome; Organoid nevus syndrome; Linear nevus sebaceus syndrome; Nevus sebaceus of Jadassohn; Schimmelpenning syndrome (ORPHA:2612)
Gene: NRAS
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: NRAS
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: NRAS
Phenotype: Asymmetric growth (HP:0100555)
Associated disease: Solomon syndrome; Nevus sebaceus syndrome; Organoid nevus syndrome; Linear nevus sebaceus syndrome; Nevus sebaceus of Jadassohn; Schimmelpenning syndrome (ORPHA:2612)
Gene: NRAS
Phenotype: Syringomyelia (HP:0003396)
Associated disease: MELANOSIS, NEUROCUTANEOUS (OMIM:249400)
Gene: NRAS
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NRAS
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NRAS
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Solomon syndrome; Nevus sebaceus syndrome; Organoid nevus syndrome; Linear nevus sebaceus syndrome; Nevus sebaceus of Jadassohn; Schimmelpenning syndrome (ORPHA:2612)
Gene: NRAS
Phenotype: Porencephalic cyst (HP:0002132)
Associated disease: Solomon syndrome; Nevus sebaceus syndrome; Organoid nevus syndrome; Linear nevus sebaceus syndrome; Nevus sebaceus of Jadassohn; Schimmelpenning syndrome (ORPHA:2612)
Gene: NRAS
Phenotype: Spontaneous pneumothorax (HP:0002108)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: NRAS
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: Solomon syndrome; Nevus sebaceus syndrome; Organoid nevus syndrome; Linear nevus sebaceus syndrome; Nevus sebaceus of Jadassohn; Schimmelpenning syndrome (ORPHA:2612)
Gene: NRAS
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: NRAS
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: NOONAN SYNDROME 6 (OMIM:613224)
Gene: NRAS
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: Noonan syndrome (ORPHA:648)