TaoMedAI/RareMedData huggingface dataset:
Gene: NRAS
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NRAS
Phenotype: Abnormality of dental color (HP:0011073)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: NRAS
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NRAS
Phenotype: Thickened helices (HP:0000391)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: NRAS
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NRAS
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: NRAS
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: NRAS
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NRAS
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: NRAS
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: NOONAN SYNDROME 6 (OMIM:613224)
Gene: NRAS
Phenotype: Low-set ears (HP:0000369)
Associated disease: NOONAN SYNDROME 6 (OMIM:613224)
Gene: NRAS
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NRAS
Phenotype: Long philtrum (HP:0000343)
Associated disease: MELANOCYTIC NEVUS SYNDROME, CONGENITAL (OMIM:137550)
Gene: NRAS
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NRAS
Phenotype: Broad forehead (HP:0000337)
Associated disease: NOONAN SYNDROME 6 (OMIM:613224)
Gene: NRAS
Phenotype: Broad forehead (HP:0000337)
Associated disease: MELANOCYTIC NEVUS SYNDROME, CONGENITAL (OMIM:137550)
Gene: NRAS
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: NOONAN SYNDROME 6 (OMIM:613224)
Gene: NRAS
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: NRAS
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: NRAS
Phenotype: High forehead (HP:0000348)
Associated disease: NOONAN SYNDROME 6 (OMIM:613224)
Gene: NRAS
Phenotype: High forehead (HP:0000348)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: NRAS
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NRAS
Phenotype: Micrognathia (HP:0000347)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: NRAS
Phenotype: Increased total monocyte count (HP:0012311)
Associated disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER (OMIM:614470)
Gene: NRAS
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NOONAN SYNDROME 6 (OMIM:613224)
Gene: NRAS
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MELANOCYTIC NEVUS SYNDROME, CONGENITAL (OMIM:137550)
Gene: NRAS
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: NRAS
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: NRAS
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NRAS
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NRAS
Phenotype: Round face (HP:0000311)
Associated disease: MELANOCYTIC NEVUS SYNDROME, CONGENITAL (OMIM:137550)
Gene: NRAS
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: NOONAN SYNDROME 6 (OMIM:613224)
Gene: NRAS
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: NRAS
Phenotype: Triangular face (HP:0000325)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: NRAS
Phenotype: Facial asymmetry (HP:0000324)
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: Patent foramen ovale (HP:0001655)
Associated disease: NOONAN SYNDROME 6 (OMIM:613224)
Gene: NRAS
Phenotype: Autoimmunity (HP:0002960)
Associated disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER (OMIM:614470)
Gene: NRAS
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NRAS
Phenotype: Abnormal pulmonary valve morphology (HP:0001641)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: NRAS
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NRAS
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: NOONAN SYNDROME 6 (OMIM:613224)
Gene: NRAS
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: NRAS
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NRAS
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: NRAS
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: NOONAN SYNDROME 6 (OMIM:613224)
Gene: NRAS
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NRAS
Phenotype: Corneal opacity (HP:0007957)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: NRAS
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: NRAS
Phenotype: Premature atrial contractions (HP:0006699)
Associated disease: NOONAN SYNDROME 6 (OMIM:613224)
Gene: NRAS
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: NOONAN SYNDROME 6 (OMIM:613224)
Gene: NRAS
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: NRAS
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: NOONAN SYNDROME 6 (OMIM:613224)
Gene: NRAS
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NRAS
Phenotype: Astigmatism (HP:0000483)
Associated disease: NOONAN SYNDROME 6 (OMIM:613224)
Gene: NRAS
Phenotype: Strabismus (HP:0000486)
Associated disease: NOONAN SYNDROME 6 (OMIM:613224)
Gene: NRAS
Phenotype: Strabismus (HP:0000486)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: NRAS
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: NRAS
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NRAS
Phenotype: Abnormality of the eye (HP:0000478)
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: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NRAS
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: NRAS
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: NOONAN SYNDROME 6 (OMIM:613224)
Gene: NRAS
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MELANOCYTIC NEVUS SYNDROME, CONGENITAL (OMIM:137550)
Gene: NRAS
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NRAS
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: MELANOCYTIC NEVUS SYNDROME, CONGENITAL (OMIM:137550)
Gene: NRAS
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: NRAS
Phenotype: Short neck (HP:0000470)
Associated disease: NOONAN SYNDROME 6 (OMIM:613224)
Gene: NRAS
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NRAS
Phenotype: Webbed neck (HP:0000465)
Associated disease: NOONAN SYNDROME 6 (OMIM:613224)
Gene: NRAS
Phenotype: Webbed neck (HP:0000465)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: NRAS
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NRAS
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NRAS
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NRAS
Phenotype: Abnormal toe morphology (HP:0001780)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: NRAS
Phenotype: Narrow nasal ridge (HP:0000418)
Associated disease: MELANOCYTIC NEVUS SYNDROME, CONGENITAL (OMIM:137550)
Gene: NRAS
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: NRAS
Phenotype: Splenomegaly (HP:0001744)
Associated disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER (OMIM:614470)
Gene: NRAS
Phenotype: Abnormality of the spleen (HP:0001743)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: NRAS
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: NOONAN SYNDROME 6 (OMIM:613224)
Gene: NRAS
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: NRAS
Phenotype: Transitional cell carcinoma of the bladder (HP:0006740)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: NRAS
Phenotype: Follicular thyroid carcinoma (HP:0006731)
Associated disease: THYROID CANCER, NONMEDULLARY, 2 (OMIM:188470)
Gene: NRAS
Phenotype: Hereditary nonpolyposis colorectal carcinoma (HP:0006716)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: NRAS
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NRAS
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NRAS
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NRAS
Phenotype: Proptosis (HP:0000520)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: NRAS
Phenotype: Weight loss (HP:0001824)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: NRAS
Phenotype: Telecanthus (HP:0000506)
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: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NRAS
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NRAS
Phenotype: Ptosis (HP:0000508)
Associated disease: NOONAN SYNDROME 6 (OMIM:613224)
Gene: NRAS
Phenotype: Ptosis (HP:0000508)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: NRAS
Phenotype: Abnormality of vision (HP:0000504)
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: Delayed menarche (HP:0012569)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: NRAS
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NRAS
Phenotype: Coloboma (HP:0000589)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: NRAS
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: NRAS
Phenotype: Keratoconus (HP:0000563)
Associated disease: NOONAN SYNDROME 6 (OMIM:613224)
Gene: NRAS
Phenotype: Prominent forehead (HP:0011220)
Associated disease: MELANOCYTIC NEVUS SYNDROME, CONGENITAL (OMIM:137550)
Gene: NRAS
Phenotype: Microphthalmia (HP:0000568)
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: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NRAS
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NRAS
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: NRAS
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NRAS
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER (OMIM:614470)
Gene: NRAS
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: NRAS
Phenotype: Pancytopenia (HP:0001876)
Associated disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER (OMIM:614470)
Gene: NRAS
Phenotype: Myopia (HP:0000545)
Associated disease: NOONAN SYNDROME 6 (OMIM:613224)
Gene: NRAS
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER (OMIM:614470)
Gene: NRCAM
Phenotype: Motor delay (HP:0001270)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Ataxia (HP:0001251)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Jaw hyperreflexia (HP:0033683)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Acetabular dysplasia (HP:0008807)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Coxa valga (HP:0002673)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Deep philtrum (HP:0002002)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Exaggerated cupid's bow (HP:0002263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Periventricular heterotopia (HP:0007165)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Medial flaring of the eyebrow (HP:0010747)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Demyelinating peripheral neuropathy (HP:0007108)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Optic atrophy (HP:0000648)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Periorbital fullness (HP:0000629)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Short stature (HP:0004322)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Periventricular leukomalacia (HP:0006970)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Distal arthrogryposis (HP:0005684)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Irritability (HP:0000737)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Short nose (HP:0003196)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Coarse facial features (HP:0000280)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Long face (HP:0000276)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: High palate (HP:0000218)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Failure to thrive (HP:0001508)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Colpocephaly (HP:0030048)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Hearing impairment (HP:0000365)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Narrow forehead (HP:0000341)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Micrognathia (HP:0000347)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Short chin (HP:0000331)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Strabismus (HP:0000486)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Hammertoe (HP:0001765)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Pes cavus (HP:0001761)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Early young adult onset (HP:0025708)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Cataract (HP:0000518)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Long eyelashes (HP:0000527)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRCAM
Phenotype: Retinal detachment (HP:0000541)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Gene: NRL
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NRL
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 27 (OMIM:613750)
Gene: NRL
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NRL
Phenotype: Macular atrophy (HP:0007401)
Associated disease: RETINITIS PIGMENTOSA 27 (OMIM:613750)
Gene: NRL
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: RETINITIS PIGMENTOSA 27 (OMIM:613750)
Gene: NRL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NRL
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NRL
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 27 (OMIM:613750)