TaoMedAI/RareMedData huggingface dataset:
Gene: FOXH1
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: FOXH1
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: PHOX2B
Phenotype: Seizure (HP:0001250)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: PHOX2B
Phenotype: Seizure (HP:0001250)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: PHOX2B
Phenotype: Seizure (HP:0001250)
Associated disease: Hirschsprung disease-ganglioneuroblastoma syndrome (ORPHA:2151)
Gene: PHOX2B
Phenotype: Hypotonia (HP:0001252)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: PHOX2B
Phenotype: Hypotonia (HP:0001252)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: PHOX2B
Phenotype: Ataxia (HP:0001251)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: PHOX2B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: PHOX2B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 2 (OMIM:613013)
Gene: PHOX2B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL (OMIM:209880)
Gene: PHOX2B
Phenotype: Myoclonus (HP:0001336)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: PHOX2B
Phenotype: Bone pain (HP:0002653)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: PHOX2B
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: PHOX2B
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: PHOX2B
Phenotype: Hypoventilation (HP:0002791)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL (OMIM:209880)
Gene: PHOX2B
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: PHOX2B
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: PHOX2B
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: PHOX2B
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: PHOX2B
Phenotype: Elevated circulating catecholamine level (HP:0003334)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: PHOX2B
Phenotype: Breathing dysregulation (HP:0005957)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: PHOX2B
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: PHOX2B
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: PHOX2B
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: PHOX2B
Phenotype: Apnea (HP:0002104)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL (OMIM:209880)
Gene: PHOX2B
Phenotype: Spinal cord compression (HP:0002176)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: PHOX2B
Phenotype: Opsoclonus (HP:0010543)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: PHOX2B
Phenotype: Central sleep apnea (HP:0010536)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: PHOX2B
Phenotype: Infantile onset (HP:0003593)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL (OMIM:209880)
Gene: PHOX2B
Phenotype: Horner syndrome (HP:0002277)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: PHOX2B
Phenotype: Abnormality of the autonomic nervous system (HP:0002270)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: PHOX2B
Phenotype: Congenital onset (HP:0003577)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL (OMIM:209880)
Gene: PHOX2B
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: PHOX2B
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: PHOX2B
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Hirschsprung disease-ganglioneuroblastoma syndrome (ORPHA:2151)
Gene: PHOX2B
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL (OMIM:209880)
Gene: PHOX2B
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 2 (OMIM:613013)
Gene: PHOX2B
Phenotype: Elevated urinary catecholamine level (HP:0011976)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: PHOX2B
Phenotype: Elevated urinary homovanillic acid (HP:0011977)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: PHOX2B
Phenotype: Elevated urinary vanillylmandelic acid (HP:0011978)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: PHOX2B
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL (OMIM:209880)
Gene: PHOX2B
Phenotype: Anemic pallor (HP:0001017)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: PHOX2B
Phenotype: Central hypoventilation (HP:0007110)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL (OMIM:209880)
Gene: PHOX2B
Phenotype: Central hypoventilation (HP:0007110)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: PHOX2B
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL (OMIM:209880)
Gene: PHOX2B
Phenotype: Ineffective esophageal peristalsis (HP:0031857)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL (OMIM:209880)
Gene: PHOX2B
Phenotype: Decreased heart rate variability (HP:0031861)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL (OMIM:209880)
Gene: PHOX2B
Phenotype: Abnormal pupil morphology (HP:0000615)
Associated disease: Hirschsprung disease-ganglioneuroblastoma syndrome (ORPHA:2151)
Gene: PHOX2B
Phenotype: Fever (HP:0001945)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: PHOX2B
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: PHOX2B
Phenotype: Anemia (HP:0001903)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: PHOX2B
Phenotype: Antalgic gait (HP:0031955)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: PHOX2B
Phenotype: Ganglioneuroma (HP:0003005)
Associated disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 2 (OMIM:613013)
Gene: PHOX2B
Phenotype: Ganglioneuroma (HP:0003005)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: PHOX2B
Phenotype: Ganglioneuroma (HP:0003005)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: PHOX2B
Phenotype: Ganglioneuroma (HP:0003005)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL (OMIM:209880)
Gene: PHOX2B
Phenotype: Neoplasm of the nervous system (HP:0004375)
Associated disease: Hirschsprung disease-ganglioneuroblastoma syndrome (ORPHA:2151)
Gene: PHOX2B
Phenotype: Neoplasm of the nervous system (HP:0004375)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: PHOX2B
Phenotype: Abnormality of temperature regulation (HP:0004370)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL (OMIM:209880)
Gene: PHOX2B
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL (OMIM:209880)
Gene: PHOX2B
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 2 (OMIM:613013)
Gene: PHOX2B
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: PHOX2B
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: PHOX2B
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: PHOX2B
Phenotype: Neoplasm of the central nervous system (HP:0100006)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: PHOX2B
Phenotype: Irritability (HP:0000737)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: PHOX2B
Phenotype: Hypertension (HP:0000822)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: PHOX2B
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: PHOX2B
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: PHOX2B
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Hirschsprung disease-ganglioneuroblastoma syndrome (ORPHA:2151)
Gene: PHOX2B
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL (OMIM:209880)
Gene: PHOX2B
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Hirschsprung disease-ganglioneuroblastoma syndrome (ORPHA:2151)
Gene: PHOX2B
Phenotype: Periorbital ecchymosis with tarsal plate sparing (HP:0025553)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: PHOX2B
Phenotype: Nocturnal hypoventilation (HP:0002877)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL (OMIM:209880)
Gene: PHOX2B
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: PHOX2B
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: PHOX2B
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: PHOX2B
Phenotype: Death in infancy (HP:0001522)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: PHOX2B
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: PHOX2B
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: PHOX2B
Phenotype: Abdominal mass (HP:0031500)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: PHOX2B
Phenotype: Fatigue (HP:0012378)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: PHOX2B
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL (OMIM:209880)
Gene: PHOX2B
Phenotype: Low-set ears (HP:0000369)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL (OMIM:209880)
Gene: PHOX2B
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL (OMIM:209880)
Gene: PHOX2B
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: PHOX2B
Phenotype: Prolonged QT interval (HP:0001657)
Associated disease: Hirschsprung disease-ganglioneuroblastoma syndrome (ORPHA:2151)
Gene: PHOX2B
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: PHOX2B
Phenotype: Strabismus (HP:0000486)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: PHOX2B
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL (OMIM:209880)
Gene: PHOX2B
Phenotype: Chronic constipation (HP:0012450)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL (OMIM:209880)
Gene: PHOX2B
Phenotype: Hypercapnia (HP:0012416)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL (OMIM:209880)
Gene: PHOX2B
Phenotype: Hypoxemia (HP:0012418)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL (OMIM:209880)
Gene: PHOX2B
Phenotype: Ganglioneuroblastoma (HP:0006747)
Associated disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 2 (OMIM:613013)
Gene: PHOX2B
Phenotype: Ganglioneuroblastoma (HP:0006747)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: PHOX2B
Phenotype: Ganglioneuroblastoma (HP:0006747)
Associated disease: Hirschsprung disease-ganglioneuroblastoma syndrome (ORPHA:2151)
Gene: PHOX2B
Phenotype: Ganglioneuroblastoma (HP:0006747)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL (OMIM:209880)
Gene: PHOX2B
Phenotype: Proptosis (HP:0000520)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: PHOX2B
Phenotype: Weight loss (HP:0001824)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: PHOX2B
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: PHOX2B
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: MBD4
Phenotype: Intussusception (HP:0002576)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MBD4
Phenotype: Hematochezia (HP:0002573)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MBD4
Phenotype: Clubbing (HP:0001217)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MBD4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: MBD4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MBD4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TUMOR PREDISPOSITION SYNDROME 2 (OMIM:619975)
Gene: MBD4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MELANOMA, UVEAL, SUSCEPTIBILITY TO, 1 (OMIM:606660)
Gene: MBD4
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MBD4
Phenotype: Abdominal pain (HP:0002027)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MBD4
Phenotype: Diarrhea (HP:0002014)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MBD4
Phenotype: Middle age onset (HP:0003596)
Associated disease: TUMOR PREDISPOSITION SYNDROME 2 (OMIM:619975)
Gene: MBD4
Phenotype: Adult onset (HP:0003581)
Associated disease: MELANOMA, UVEAL, SUSCEPTIBILITY TO, 1 (OMIM:606660)
Gene: MBD4
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: TUMOR PREDISPOSITION SYNDROME 2 (OMIM:619975)
Gene: MBD4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: TUMOR PREDISPOSITION SYNDROME 2 (OMIM:619975)
Gene: MBD4
Phenotype: Anemia (HP:0001903)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MBD4
Phenotype: Colon cancer (HP:0003003)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MBD4
Phenotype: Colon cancer (HP:0003003)
Associated disease: TUMOR PREDISPOSITION SYNDROME 2 (OMIM:619975)
Gene: MBD4
Phenotype: Colon cancer (HP:0003003)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: MBD4
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MBD4
Phenotype: Multiple gastric polyps (HP:0004394)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MBD4
Phenotype: Juvenile type ovarian granulosa cell tumor (HP:0031919)
Associated disease: TUMOR PREDISPOSITION SYNDROME 2 (OMIM:619975)
Gene: MBD4
Phenotype: Schwannoma (HP:0100008)
Associated disease: TUMOR PREDISPOSITION SYNDROME 2 (OMIM:619975)
Gene: MBD4
Phenotype: Young adult onset (HP:0011462)
Associated disease: TUMOR PREDISPOSITION SYNDROME 2 (OMIM:619975)
Gene: MBD4
Phenotype: Uveal melanoma (HP:0007716)
Associated disease: TUMOR PREDISPOSITION SYNDROME 2 (OMIM:619975)
Gene: MBD4
Phenotype: Uveal melanoma (HP:0007716)
Associated disease: MELANOMA, UVEAL, SUSCEPTIBILITY TO, 1 (OMIM:606660)
Gene: MBD4
Phenotype: Ductal carcinoma in situ (HP:0030075)
Associated disease: TUMOR PREDISPOSITION SYNDROME 2 (OMIM:619975)
Gene: MBD4
Phenotype: Meningioma (HP:0002858)
Associated disease: TUMOR PREDISPOSITION SYNDROME 2 (OMIM:619975)
Gene: MBD4
Phenotype: Failure to thrive (HP:0001508)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MBD4
Phenotype: Adenomatous colonic polyposis (HP:0005227)
Associated disease: TUMOR PREDISPOSITION SYNDROME 2 (OMIM:619975)
Gene: MBD4
Phenotype: Adenomatous colonic polyposis (HP:0005227)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: MBD4
Phenotype: Hypokalemia (HP:0002900)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MBD4
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MBD4
Phenotype: Duodenal adenocarcinoma (HP:0006771)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: WASF1
Phenotype: Tapered finger (HP:0001182)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES (OMIM:618707)
Gene: WASF1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES (OMIM:618707)
Gene: WASF1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES (OMIM:618707)
Gene: WASF1
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES (OMIM:618707)
Gene: WASF1
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES (OMIM:618707)
Gene: WASF1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES (OMIM:618707)
Gene: WASF1
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES (OMIM:618707)
Gene: WASF1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES (OMIM:618707)
Gene: WASF1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES (OMIM:618707)
Gene: WASF1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES (OMIM:618707)
Gene: WASF1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES (OMIM:618707)
Gene: WASF1
Phenotype: Broad-based gait (HP:0002136)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES (OMIM:618707)
Gene: WASF1
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES (OMIM:618707)
Gene: WASF1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES (OMIM:618707)
Gene: WASF1
Phenotype: Developmental regression (HP:0002376)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES (OMIM:618707)
Gene: WASF1
Phenotype: Short 3rd toe (HP:0005643)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES (OMIM:618707)
Gene: WASF1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES (OMIM:618707)
Gene: WASF1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES (OMIM:618707)
Gene: WASF1
Phenotype: Inverted nipples (HP:0003186)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES (OMIM:618707)
Gene: WASF1
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES (OMIM:618707)
Gene: WASF1
Phenotype: Short 4th toe (HP:0008093)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES (OMIM:618707)
Gene: WASF1
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES (OMIM:618707)
Gene: WASF1
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES (OMIM:618707)
Gene: WASF1
Phenotype: Strabismus (HP:0000486)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES (OMIM:618707)
Gene: WASF1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES (OMIM:618707)
Gene: WASF1
Phenotype: Chronic constipation (HP:0012450)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES (OMIM:618707)
Gene: WASF1
Phenotype: Pes planus (HP:0001763)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES (OMIM:618707)
Gene: WASF1
Phenotype: Proptosis (HP:0000520)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES (OMIM:618707)
Gene: WASF1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES (OMIM:618707)