TaoMedAI/RareMedData huggingface dataset:
Gene: NRL
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NRL
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NRL
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 27 (OMIM:613750)
Gene: NRL
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NRL
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NRL
Phenotype: Middle age onset (HP:0003596)
Associated disease: RETINITIS PIGMENTOSA 27 (OMIM:613750)
Gene: NRL
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NRL
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NRL
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NRL
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NRL
Phenotype: Blindness (HP:0000618)
Associated disease: RETINITIS PIGMENTOSA 27 (OMIM:613750)
Gene: NRL
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NRL
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NRL
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NRL
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NRL
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NRL
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 27 (OMIM:613750)
Gene: NRL
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NRL
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NRL
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NRL
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NRL
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 27 (OMIM:613750)
Gene: NRL
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NRL
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NRL
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NRL
Phenotype: Macular edema (HP:0040049)
Associated disease: RETINITIS PIGMENTOSA 27 (OMIM:613750)
Gene: NRL
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NRL
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NRL
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NRL
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NRL
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NRL
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 27 (OMIM:613750)
Gene: NRL
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NRL
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 27 (OMIM:613750)
Gene: NRL
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NRL
Phenotype: Peripapillary chorioretinal atrophy (HP:0007950)
Associated disease: RETINITIS PIGMENTOSA 27 (OMIM:613750)
Gene: NRL
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NRL
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NRL
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NRL
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NRL
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 27 (OMIM:613750)
Gene: NRL
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NRL
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NRL
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NRL
Phenotype: Visual impairment (HP:0000505)
Associated disease: RETINITIS PIGMENTOSA 27 (OMIM:613750)
Gene: NRL
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NRL
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NRL
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NRL
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: RETINITIS PIGMENTOSA 27 (OMIM:613750)
Gene: NRL
Phenotype: Undetectable electroretinogram (HP:0000550)
Associated disease: RETINITIS PIGMENTOSA 27 (OMIM:613750)
Gene: NRL
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NRL
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NRL
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NRL
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NRL
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NRTN
Phenotype: Sepsis (HP:0100806)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: NRTN
Phenotype: Constipation (HP:0002019)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: NRTN
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: NRTN
Phenotype: Abdominal pain (HP:0002027)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: NRTN
Phenotype: Diarrhea (HP:0002014)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: NRTN
Phenotype: Delayed passage of meconium (HP:6000224)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: NRTN
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: NRTN
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: NRTN
Phenotype: Bilious emesis (HP:0034754)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: NRTN
Phenotype: Short stature (HP:0004322)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: NRTN
Phenotype: Enterocolitis (HP:0004387)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: NRTN
Phenotype: Functional abnormality of the gastrointestinal tract (HP:0012719)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: NRTN
Phenotype: Abdominal distention (HP:0003270)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: NRTN
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: NRTN
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: NRTN
Phenotype: Colon perforation (HP:0031369)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: NRTN
Phenotype: Growth delay (HP:0001510)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: NRTN
Phenotype: Intestinal obstruction (HP:0005214)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: NRTN
Phenotype: Weight loss (HP:0001824)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: NSF
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96 (OMIM:619340)
Gene: NSF
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96 (OMIM:619340)
Gene: NSF
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96 (OMIM:619340)
Gene: NSF
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96 (OMIM:619340)
Gene: NSF
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96 (OMIM:619340)
Gene: NSF
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96 (OMIM:619340)
Gene: NSF
Phenotype: Death in infancy (HP:0001522)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96 (OMIM:619340)
Gene: NSF
Phenotype: Small for gestational age (HP:0001518)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96 (OMIM:619340)
Gene: NSF
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96 (OMIM:619340)
Gene: NSF
Phenotype: Tonic seizure (HP:0032792)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96 (OMIM:619340)
Gene: NSF
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96 (OMIM:619340)
Gene: NT5E
Phenotype: Arterial occlusion (HP:0025324)
Associated disease: Calcification of joints and arteries; Hereditary arterial and articular multiple calcification syndrome; CALJA (ORPHA:289601)
Gene: NT5E
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CALCIFICATION OF JOINTS AND ARTERIES (OMIM:211800)
Gene: NT5E
Phenotype: Periarticular calcification (HP:0025477)
Associated disease: CALCIFICATION OF JOINTS AND ARTERIES (OMIM:211800)
Gene: NT5E
Phenotype: Decreased serum creatinine (HP:0012101)
Associated disease: Calcification of joints and arteries; Hereditary arterial and articular multiple calcification syndrome; CALJA (ORPHA:289601)
Gene: NT5E
Phenotype: Ectopic ossification (HP:0011986)
Associated disease: CALCIFICATION OF JOINTS AND ARTERIES (OMIM:211800)
Gene: NT5E
Phenotype: Abnormal vascular morphology (HP:0025015)
Associated disease: Calcification of joints and arteries; Hereditary arterial and articular multiple calcification syndrome; CALJA (ORPHA:289601)
Gene: NT5E
Phenotype: Intervertebral disk calcification (HP:0005645)
Associated disease: CALCIFICATION OF JOINTS AND ARTERIES (OMIM:211800)
Gene: NT5E
Phenotype: Intermittent claudication (HP:0004417)
Associated disease: CALCIFICATION OF JOINTS AND ARTERIES (OMIM:211800)
Gene: NT5E
Phenotype: Arterial calcification (HP:0003207)
Associated disease: Calcification of joints and arteries; Hereditary arterial and articular multiple calcification syndrome; CALJA (ORPHA:289601)
Gene: NT5E
Phenotype: Arterial tortuosity (HP:0005116)
Associated disease: Calcification of joints and arteries; Hereditary arterial and articular multiple calcification syndrome; CALJA (ORPHA:289601)
Gene: NT5E
Phenotype: Femoral arterial calcification (HP:0031303)
Associated disease: CALCIFICATION OF JOINTS AND ARTERIES (OMIM:211800)
Gene: NT5E
Phenotype: Iliac arterial calcification (HP:0031304)
Associated disease: CALCIFICATION OF JOINTS AND ARTERIES (OMIM:211800)
Gene: NT5E
Phenotype: Tibial arterial calcification (HP:0031305)
Associated disease: CALCIFICATION OF JOINTS AND ARTERIES (OMIM:211800)
Gene: NT5E
Phenotype: Abnormal cardiovascular system physiology (HP:0011025)
Associated disease: Calcification of joints and arteries; Hereditary arterial and articular multiple calcification syndrome; CALJA (ORPHA:289601)
Gene: NT5E
Phenotype: Coronary artery calcification (HP:0001717)
Associated disease: CALCIFICATION OF JOINTS AND ARTERIES (OMIM:211800)
Gene: NT5E
Phenotype: Coronary artery calcification (HP:0001717)
Associated disease: Calcification of joints and arteries; Hereditary arterial and articular multiple calcification syndrome; CALJA (ORPHA:289601)
Gene: NTF4
Phenotype: Open angle glaucoma (HP:0012108)
Associated disease: GLAUCOMA 1, OPEN ANGLE, O (OMIM:613100)
Gene: NTHL1
Phenotype: Intussusception (HP:0002576)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: NTHL1
Phenotype: Hematochezia (HP:0002573)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: NTHL1
Phenotype: Clubbing (HP:0001217)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: NTHL1
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 3 (OMIM:616415)
Gene: NTHL1
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: NTHL1-related attenuated familial adenomatous polyposis; NTHL1-related attenuated FAP; NTHL1-related AFAP (ORPHA:454840)
Gene: NTHL1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 3 (OMIM:616415)
Gene: NTHL1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: NTHL1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: NTHL1
Phenotype: Prostate cancer (HP:0012125)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 3 (OMIM:616415)
Gene: NTHL1
Phenotype: Ovarian cyst (HP:0000138)
Associated disease: NTHL1-related attenuated familial adenomatous polyposis; NTHL1-related attenuated FAP; NTHL1-related AFAP (ORPHA:454840)
Gene: NTHL1
Phenotype: Endometrial carcinoma (HP:0012114)
Associated disease: NTHL1-related attenuated familial adenomatous polyposis; NTHL1-related attenuated FAP; NTHL1-related AFAP (ORPHA:454840)
Gene: NTHL1
Phenotype: Endometrial carcinoma (HP:0012114)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 3 (OMIM:616415)
Gene: NTHL1
Phenotype: Seborrheic keratosis (HP:0031287)
Associated disease: NTHL1-related attenuated familial adenomatous polyposis; NTHL1-related attenuated FAP; NTHL1-related AFAP (ORPHA:454840)
Gene: NTHL1
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: NTHL1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: NTHL1
Phenotype: Diarrhea (HP:0002014)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: NTHL1
Phenotype: Adult onset (HP:0003581)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 3 (OMIM:616415)
Gene: NTHL1
Phenotype: Bladder neoplasm (HP:0009725)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 3 (OMIM:616415)
Gene: NTHL1
Phenotype: Bladder neoplasm (HP:0009725)
Associated disease: NTHL1-related attenuated familial adenomatous polyposis; NTHL1-related attenuated FAP; NTHL1-related AFAP (ORPHA:454840)
Gene: NTHL1
Phenotype: Neoplasm of the rectum (HP:0100743)
Associated disease: NTHL1-related attenuated familial adenomatous polyposis; NTHL1-related attenuated FAP; NTHL1-related AFAP (ORPHA:454840)
Gene: NTHL1
Phenotype: Anemia (HP:0001903)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: NTHL1
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: NTHL1-related attenuated familial adenomatous polyposis; NTHL1-related attenuated FAP; NTHL1-related AFAP (ORPHA:454840)
Gene: NTHL1
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 3 (OMIM:616415)
Gene: NTHL1
Phenotype: Colon cancer (HP:0003003)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: NTHL1
Phenotype: Colon cancer (HP:0003003)
Associated disease: NTHL1-related attenuated familial adenomatous polyposis; NTHL1-related attenuated FAP; NTHL1-related AFAP (ORPHA:454840)
Gene: NTHL1
Phenotype: Colon cancer (HP:0003003)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: NTHL1
Phenotype: Colon cancer (HP:0003003)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 3 (OMIM:616415)
Gene: NTHL1
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: NTHL1
Phenotype: Multiple gastric polyps (HP:0004394)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: NTHL1
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: NTHL1-related attenuated familial adenomatous polyposis; NTHL1-related attenuated FAP; NTHL1-related AFAP (ORPHA:454840)
Gene: NTHL1
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: NTHL1-related attenuated familial adenomatous polyposis; NTHL1-related attenuated FAP; NTHL1-related AFAP (ORPHA:454840)
Gene: NTHL1
Phenotype: Meningioma (HP:0002858)
Associated disease: NTHL1-related attenuated familial adenomatous polyposis; NTHL1-related attenuated FAP; NTHL1-related AFAP (ORPHA:454840)
Gene: NTHL1
Phenotype: Meningioma (HP:0002858)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 3 (OMIM:616415)
Gene: NTHL1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: NTHL1
Phenotype: Adenomatous colonic polyposis (HP:0005227)
Associated disease: NTHL1-related attenuated familial adenomatous polyposis; NTHL1-related attenuated FAP; NTHL1-related AFAP (ORPHA:454840)
Gene: NTHL1
Phenotype: Adenomatous colonic polyposis (HP:0005227)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 3 (OMIM:616415)
Gene: NTHL1
Phenotype: Adenomatous colonic polyposis (HP:0005227)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: NTHL1
Phenotype: Hypokalemia (HP:0002900)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: NTHL1
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: NTHL1
Phenotype: Pancreatic adenocarcinoma (HP:0006725)
Associated disease: NTHL1-related attenuated familial adenomatous polyposis; NTHL1-related attenuated FAP; NTHL1-related AFAP (ORPHA:454840)
Gene: NTHL1
Phenotype: Pancreatic adenocarcinoma (HP:0006725)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 3 (OMIM:616415)
Gene: NTHL1
Phenotype: Duodenal adenocarcinoma (HP:0006771)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 3 (OMIM:616415)
Gene: NTHL1
Phenotype: Duodenal adenocarcinoma (HP:0006771)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: NTHL1
Phenotype: Duodenal adenocarcinoma (HP:0006771)
Associated disease: NTHL1-related attenuated familial adenomatous polyposis; NTHL1-related attenuated FAP; NTHL1-related AFAP (ORPHA:454840)
Gene: NTHL1
Phenotype: Non-Hodgkin lymphoma (HP:0012539)
Associated disease: NTHL1-related attenuated familial adenomatous polyposis; NTHL1-related attenuated FAP; NTHL1-related AFAP (ORPHA:454840)
Gene: NTRK1
Phenotype: Hyperesthesia (HP:0100963)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Avascular necrosis (HP:0010885)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Decreased number of small peripheral myelinated nerve fibers (HP:0007249)
Associated disease: Congenital insensitivity to pain and thermal analgesia; CIP; Hereditary sensory and autonomic neuropathy type 5; HSAN5; Hereditary sensory and autonomic neuropathy type V (ORPHA:64752)
Gene: NTRK1
Phenotype: Decreased number of small peripheral myelinated nerve fibers (HP:0007249)
Associated disease: INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS (OMIM:256800)
Gene: NTRK1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Syncope (HP:0001279)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Congenital insensitivity to pain and thermal analgesia; CIP; Hereditary sensory and autonomic neuropathy type 5; HSAN5; Hereditary sensory and autonomic neuropathy type V (ORPHA:64752)
Gene: NTRK1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS (OMIM:256800)
Gene: NTRK1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS (OMIM:256800)
Gene: NTRK1
Phenotype: Abnormal emotional state (HP:0100851)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Autoamputation of digits (HP:0007460)
Associated disease: INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS (OMIM:256800)
Gene: NTRK1
Phenotype: Acral ulceration (HP:0006121)
Associated disease: INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS (OMIM:256800)
Gene: NTRK1
Phenotype: Painless fractures due to injury (HP:0002661)
Associated disease: Congenital insensitivity to pain and thermal analgesia; CIP; Hereditary sensory and autonomic neuropathy type 5; HSAN5; Hereditary sensory and autonomic neuropathy type V (ORPHA:64752)
Gene: NTRK1
Phenotype: Painless fractures due to injury (HP:0002661)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)