TaoMedAI/RareMedData huggingface dataset:
Gene: EPRS1
Phenotype: Progressive (HP:0003676)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 15 (OMIM:617951)
Gene: EPRS1
Phenotype: Tube feeding (HP:0033454)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 15 (OMIM:617951)
Gene: EPRS1
Phenotype: Athetosis (HP:0002305)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 15 (OMIM:617951)
Gene: EPRS1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 15 (OMIM:617951)
Gene: EPRS1
Phenotype: Nystagmus (HP:0000639)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 15 (OMIM:617951)
Gene: EPRS1
Phenotype: Amblyopia (HP:0000646)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 15 (OMIM:617951)
Gene: EPRS1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 15 (OMIM:617951)
Gene: EPRS1
Phenotype: Childhood onset (HP:0011463)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 15 (OMIM:617951)
Gene: EPRS1
Phenotype: Cognitive regression (HP:0034332)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 15 (OMIM:617951)
Gene: EPRS1
Phenotype: Motor regression (HP:0033044)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 15 (OMIM:617951)
Gene: EPRS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 15 (OMIM:617951)
Gene: EPRS1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 15 (OMIM:617951)
Gene: EPRS1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 15 (OMIM:617951)
Gene: EPRS1
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 15 (OMIM:617951)
Gene: EPRS1
Phenotype: Visual loss (HP:0000572)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 15 (OMIM:617951)
Gene: EPRS1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 15 (OMIM:617951)
Gene: EPS8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 102 (OMIM:615974)
Gene: EPS8
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 102 (OMIM:615974)
Gene: EPS8
Phenotype: Profound hearing impairment (HP:0012715)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 102 (OMIM:615974)
Gene: ERBB2
Phenotype: Sepsis (HP:0100806)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ERBB2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Esophageal adenocarcinoma; Adenocarcinoma of the esophagus (ORPHA:99976)
Gene: ERBB2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE (OMIM:619465)
Gene: ERBB2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: GLIOMA SUSCEPTIBILITY 1 (OMIM:137800)
Gene: ERBB2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OVARIAN CANCER (OMIM:167000)
Gene: ERBB2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: ERBB2
Phenotype: Glioblastoma multiforme (HP:0012174)
Associated disease: GLIOMA SUSCEPTIBILITY 1 (OMIM:137800)
Gene: ERBB2
Phenotype: Stomach cancer (HP:0012126)
Associated disease: GASTRIC CANCER (OMIM:613659)
Gene: ERBB2
Phenotype: Increased level of L-fucose in urine (HP:0410067)
Associated disease: GASTRIC CANCER (OMIM:613659)
Gene: ERBB2
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: GLIOMA SUSCEPTIBILITY 1 (OMIM:137800)
Gene: ERBB2
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: OVARIAN CANCER (OMIM:167000)
Gene: ERBB2
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: GASTRIC CANCER (OMIM:613659)
Gene: ERBB2
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: ERBB2
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Esophageal adenocarcinoma; Adenocarcinoma of the esophagus (ORPHA:99976)
Gene: ERBB2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Esophageal adenocarcinoma; Adenocarcinoma of the esophagus (ORPHA:99976)
Gene: ERBB2
Phenotype: Constipation (HP:0002019)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ERBB2
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ERBB2
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Esophageal adenocarcinoma; Adenocarcinoma of the esophagus (ORPHA:99976)
Gene: ERBB2
Phenotype: Abdominal pain (HP:0002027)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ERBB2
Phenotype: Diarrhea (HP:0002014)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ERBB2
Phenotype: Barrett esophagus (HP:0100580)
Associated disease: Esophageal adenocarcinoma; Adenocarcinoma of the esophagus (ORPHA:99976)
Gene: ERBB2
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE (OMIM:619465)
Gene: ERBB2
Phenotype: Delayed passage of meconium (HP:6000224)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ERBB2
Phenotype: Astrocytoma (HP:0009592)
Associated disease: GLIOMA SUSCEPTIBILITY 1 (OMIM:137800)
Gene: ERBB2
Phenotype: Infantile onset (HP:0003593)
Associated disease: VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE (OMIM:619465)
Gene: ERBB2
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ERBB2
Phenotype: Chest pain (HP:0100749)
Associated disease: Esophageal adenocarcinoma; Adenocarcinoma of the esophagus (ORPHA:99976)
Gene: ERBB2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ERBB2
Phenotype: Dysgerminoma (HP:0100621)
Associated disease: OVARIAN CANCER (OMIM:167000)
Gene: ERBB2
Phenotype: Bilious emesis (HP:0034754)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ERBB2
Phenotype: Short stature (HP:0004322)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ERBB2
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: OVARIAN CANCER (OMIM:167000)
Gene: ERBB2
Phenotype: Enterocolitis (HP:0004387)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ERBB2
Phenotype: Cough (HP:0012735)
Associated disease: Esophageal adenocarcinoma; Adenocarcinoma of the esophagus (ORPHA:99976)
Gene: ERBB2
Phenotype: Functional abnormality of the gastrointestinal tract (HP:0012719)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ERBB2
Phenotype: Esophageal carcinoma (HP:0011459)
Associated disease: Esophageal adenocarcinoma; Adenocarcinoma of the esophagus (ORPHA:99976)
Gene: ERBB2
Phenotype: Abdominal distention (HP:0003270)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ERBB2
Phenotype: Lung adenocarcinoma (HP:0030078)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: ERBB2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ERBB2
Phenotype: Ependymoma (HP:0002888)
Associated disease: GLIOMA SUSCEPTIBILITY 1 (OMIM:137800)
Gene: ERBB2
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ERBB2
Phenotype: Colon perforation (HP:0031369)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ERBB2
Phenotype: Growth delay (HP:0001510)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ERBB2
Phenotype: Obesity (HP:0001513)
Associated disease: Esophageal adenocarcinoma; Adenocarcinoma of the esophagus (ORPHA:99976)
Gene: ERBB2
Phenotype: Intestinal obstruction (HP:0005214)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ERBB2
Phenotype: Alveolar cell carcinoma (HP:0006519)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: ERBB2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE (OMIM:619465)
Gene: ERBB2
Phenotype: Chronic constipation (HP:0012450)
Associated disease: VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE (OMIM:619465)
Gene: ERBB2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE (OMIM:619465)
Gene: ERBB2
Phenotype: Short-segment aganglionic megacolon (HP:0011284)
Associated disease: VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE (OMIM:619465)
Gene: ERBB2
Phenotype: Ovarian papillary adenocarcinoma (HP:0006774)
Associated disease: OVARIAN CANCER (OMIM:167000)
Gene: ERBB2
Phenotype: Weight loss (HP:0001824)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ERBB2
Phenotype: Ptosis (HP:0000508)
Associated disease: VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE (OMIM:619465)
Gene: ERBB2
Phenotype: Non-small cell lung carcinoma (HP:0030358)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: ERBB2
Phenotype: Clinodactyly of the 5th toe (HP:0001864)
Associated disease: Esophageal adenocarcinoma; Adenocarcinoma of the esophagus (ORPHA:99976)
Gene: ERBB3
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL RECESSIVE (OMIM:243180)
Gene: ERBB3
Phenotype: Sepsis (HP:0100806)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ERBB3
Phenotype: Areflexia (HP:0001284)
Associated disease: VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL RECESSIVE (OMIM:243180)
Gene: ERBB3
Phenotype: Dysarthria (HP:0001260)
Associated disease: VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL RECESSIVE (OMIM:243180)
Gene: ERBB3
Phenotype: Episodic abdominal pain (HP:0002574)
Associated disease: VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL RECESSIVE (OMIM:243180)
Gene: ERBB3
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL RECESSIVE (OMIM:243180)
Gene: ERBB3
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: ERYTHROLEUKEMIA, FAMILIAL, SUSCEPTIBILITY TO (OMIM:133180)
Gene: ERBB3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL RECESSIVE (OMIM:243180)
Gene: ERBB3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 2 (OMIM:607598)
Gene: ERBB3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ERYTHROLEUKEMIA, FAMILIAL, SUSCEPTIBILITY TO (OMIM:133180)
Gene: ERBB3
Phenotype: Aplasia of the olfactory bulb (HP:0032466)
Associated disease: VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL RECESSIVE (OMIM:243180)
Gene: ERBB3
Phenotype: Erythroid hyperplasia (HP:0012132)
Associated disease: ERYTHROLEUKEMIA, FAMILIAL, SUSCEPTIBILITY TO (OMIM:133180)
Gene: ERBB3
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 2 (OMIM:607598)
Gene: ERBB3
Phenotype: Constipation (HP:0002019)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ERBB3
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ERBB3
Phenotype: Abdominal pain (HP:0002027)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ERBB3
Phenotype: Diarrhea (HP:0002014)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ERBB3
Phenotype: Vomiting (HP:0002013)
Associated disease: VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL RECESSIVE (OMIM:243180)
Gene: ERBB3
Phenotype: Gait ataxia (HP:0002066)
Associated disease: VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL RECESSIVE (OMIM:243180)
Gene: ERBB3
Phenotype: Delayed passage of meconium (HP:6000224)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ERBB3
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: ERYTHROLEUKEMIA, FAMILIAL, SUSCEPTIBILITY TO (OMIM:133180)
Gene: ERBB3
Phenotype: Colonic diverticula (HP:0002253)
Associated disease: VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL RECESSIVE (OMIM:243180)
Gene: ERBB3
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ERBB3
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL RECESSIVE (OMIM:243180)
Gene: ERBB3
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ERBB3
Phenotype: Refractory anemia with ringed sideroblasts (HP:0004828)
Associated disease: ERYTHROLEUKEMIA, FAMILIAL, SUSCEPTIBILITY TO (OMIM:133180)
Gene: ERBB3
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: ERYTHROLEUKEMIA, FAMILIAL, SUSCEPTIBILITY TO (OMIM:133180)
Gene: ERBB3
Phenotype: Impaired proprioception (HP:0010831)
Associated disease: VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL RECESSIVE (OMIM:243180)
Gene: ERBB3
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL RECESSIVE (OMIM:243180)
Gene: ERBB3
Phenotype: Akinesia (HP:0002304)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 2 (OMIM:607598)
Gene: ERBB3
Phenotype: Bilious emesis (HP:0034754)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ERBB3
Phenotype: Leukemia (HP:0001909)
Associated disease: ERYTHROLEUKEMIA, FAMILIAL, SUSCEPTIBILITY TO (OMIM:133180)
Gene: ERBB3
Phenotype: Anemia (HP:0001903)
Associated disease: ERYTHROLEUKEMIA, FAMILIAL, SUSCEPTIBILITY TO (OMIM:133180)
Gene: ERBB3
Phenotype: Short stature (HP:0004322)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ERBB3
Phenotype: Intestinal pseudo-obstruction (HP:0004389)
Associated disease: VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL RECESSIVE (OMIM:243180)
Gene: ERBB3
Phenotype: Enterocolitis (HP:0004387)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ERBB3
Phenotype: Functional abnormality of the gastrointestinal tract (HP:0012719)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ERBB3
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 2 (OMIM:607598)
Gene: ERBB3
Phenotype: Abdominal distention (HP:0003270)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ERBB3
Phenotype: Edema (HP:0000969)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 2 (OMIM:607598)
Gene: ERBB3
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL RECESSIVE (OMIM:243180)
Gene: ERBB3
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 2 (OMIM:607598)
Gene: ERBB3
Phenotype: Respiratory failure (HP:0002878)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 2 (OMIM:607598)
Gene: ERBB3
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ERBB3
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 2 (OMIM:607598)
Gene: ERBB3
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 2 (OMIM:607598)
Gene: ERBB3
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ERBB3
Phenotype: Colon perforation (HP:0031369)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ERBB3
Phenotype: Growth delay (HP:0001510)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ERBB3
Phenotype: Functional intestinal obstruction (HP:0005249)
Associated disease: VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL RECESSIVE (OMIM:243180)
Gene: ERBB3
Phenotype: Intestinal obstruction (HP:0005214)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ERBB3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL RECESSIVE (OMIM:243180)
Gene: ERBB3
Phenotype: High myopia (HP:0011003)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 2 (OMIM:607598)
Gene: ERBB3
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL RECESSIVE (OMIM:243180)
Gene: ERBB3
Phenotype: Micrognathia (HP:0000347)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 2 (OMIM:607598)
Gene: ERBB3
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 2 (OMIM:607598)
Gene: ERBB3
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 2 (OMIM:607598)
Gene: ERBB3
Phenotype: Degenerative vitreoretinopathy (HP:0007964)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 2 (OMIM:607598)
Gene: ERBB3
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL RECESSIVE (OMIM:243180)
Gene: ERBB3
Phenotype: Splenomegaly (HP:0001744)
Associated disease: ERYTHROLEUKEMIA, FAMILIAL, SUSCEPTIBILITY TO (OMIM:133180)
Gene: ERBB3
Phenotype: Weight loss (HP:0001824)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ERBB3
Phenotype: Ptosis (HP:0000508)
Associated disease: VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL RECESSIVE (OMIM:243180)
Gene: ERBB3
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: ERYTHROLEUKEMIA, FAMILIAL, SUSCEPTIBILITY TO (OMIM:133180)
Gene: ERBB4
Phenotype: Language impairment (HP:0002463)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ERBB4
Phenotype: Dysarthria (HP:0001260)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ERBB4
Phenotype: Spasticity (HP:0001257)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ERBB4
Phenotype: Motor neuron atrophy (HP:0007373)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ERBB4
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 19 (OMIM:615515)
Gene: ERBB4
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ERBB4
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ERBB4
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 19 (OMIM:615515)
Gene: ERBB4
Phenotype: Jaw hyperreflexia (HP:0033683)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ERBB4
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ERBB4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 19 (OMIM:615515)
Gene: ERBB4
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ERBB4
Phenotype: Laryngospasm (HP:0025425)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ERBB4
Phenotype: Progressive distal muscular atrophy (HP:0008955)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ERBB4
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 19 (OMIM:615515)
Gene: ERBB4
Phenotype: Dysphagia (HP:0002015)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ERBB4
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ERBB4
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ERBB4
Phenotype: Dyspnea (HP:0002094)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ERBB4
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ERBB4
Phenotype: Steppage gait (HP:0003376)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ERBB4
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ERBB4
Phenotype: Paralysis (HP:0003470)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ERBB4
Phenotype: Babinski sign (HP:0003487)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ERBB4
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)