TaoMedAI/RareMedData huggingface dataset:
Gene: TOP3A
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 (OMIM:618098)
Gene: TOP3A
Phenotype: Ptosis (HP:0000508)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 (OMIM:618098)
Gene: TOP3A
Phenotype: Progressive external ophthalmoplegia (HP:0000590)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 (OMIM:618098)
Gene: TP53
Phenotype: Increased serum estradiol (HP:0025134)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TP53
Phenotype: Acute leukemia (HP:0002488)
Associated disease: LI-FRAUMENI SYNDROME (OMIM:151623)
Gene: TP53
Phenotype: Acute leukemia (HP:0002488)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: TP53
Phenotype: Visual field defect (HP:0001123)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Retinoblastoma (HP:0009919)
Associated disease: OSTEOGENIC SARCOMA (OMIM:259500)
Gene: TP53
Phenotype: Avascular necrosis (HP:0010885)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Livedo reticularis (HP:0033505)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Stroke (HP:0001297)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Panic attack (HP:0025269)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Panic attack (HP:0025269)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TP53
Phenotype: Hypertonia (HP:0001276)
Associated disease: CPP; Choroid plexus papilloma; Papilloma of choroid plexus (ORPHA:2807)
Gene: TP53
Phenotype: Seizure (HP:0001250)
Associated disease: PAPILLOMA OF CHOROID PLEXUS (OMIM:260500)
Gene: TP53
Phenotype: Seizure (HP:0001250)
Associated disease: CPP; Choroid plexus papilloma; Papilloma of choroid plexus (ORPHA:2807)
Gene: TP53
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BONE MARROW FAILURE SYNDROME 5 (OMIM:618165)
Gene: TP53
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BONE MARROW FAILURE SYNDROME 5 (OMIM:618165)
Gene: TP53
Phenotype: Neoplasm of the gastrointestinal tract (HP:0007378)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: TP53
Phenotype: Polygenic inheritance (HP:0010982)
Associated disease: NASOPHARYNGEAL CARCINOMA (OMIM:607107)
Gene: TP53
Phenotype: Dorsocervical fat pad (HP:0025383)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Abnormality of reproductive system physiology (HP:0000080)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TP53
Phenotype: Increased circulating androstenedione concentration (HP:0025380)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TP53
Phenotype: Increased urinary cortisol level (HP:0012030)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Increased urinary cortisol level (HP:0012030)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TP53
Phenotype: Joint swelling (HP:0001386)
Associated disease: Osteosarcoma; Osteogenic sarcoma (ORPHA:668)
Gene: TP53
Phenotype: Ovarian carcinoma (HP:0025318)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: TP53
Phenotype: Large sella turcica (HP:0002690)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Testicular atrophy (HP:0000029)
Associated disease: BONE MARROW FAILURE SYNDROME 5 (OMIM:618165)
Gene: TP53
Phenotype: Neoplasm (HP:0002664)
Associated disease: CPP; Choroid plexus papilloma; Papilloma of choroid plexus (ORPHA:2807)
Gene: TP53
Phenotype: Neoplasm (HP:0002664)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: TP53
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TP53
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Osteosarcoma (HP:0002669)
Associated disease: LI-FRAUMENI SYNDROME (OMIM:151623)
Gene: TP53
Phenotype: Osteosarcoma (HP:0002669)
Associated disease: PAPILLOMA OF CHOROID PLEXUS (OMIM:260500)
Gene: TP53
Phenotype: Osteosarcoma (HP:0002669)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: TP53
Phenotype: Osteosarcoma (HP:0002669)
Associated disease: OSTEOGENIC SARCOMA (OMIM:259500)
Gene: TP53
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: LI-FRAUMENI SYNDROME (OMIM:151623)
Gene: TP53
Phenotype: Lymphoma (HP:0002665)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: TP53
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PAPILLOMA OF CHOROID PLEXUS (OMIM:260500)
Gene: TP53
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: TP53
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: GLIOMA SUSCEPTIBILITY 1 (OMIM:137800)
Gene: TP53
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BONE MARROW FAILURE SYNDROME 5 (OMIM:618165)
Gene: TP53
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LI-FRAUMENI SYNDROME (OMIM:151623)
Gene: TP53
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: TP53
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PANCREATIC CANCER (OMIM:260350)
Gene: TP53
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ADRENOCORTICAL CARCINOMA, HEREDITARY (OMIM:202300)
Gene: TP53
Phenotype: Hodgkin lymphoma (HP:0012189)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: TP53
Phenotype: Glioblastoma multiforme (HP:0012174)
Associated disease: GLIOMA SUSCEPTIBILITY 1 (OMIM:137800)
Gene: TP53
Phenotype: Glioblastoma multiforme (HP:0012174)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: TP53
Phenotype: Amenorrhea (HP:0000141)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Prostate cancer (HP:0012125)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: TP53
Phenotype: Prostate cancer (HP:0012125)
Associated disease: LI-FRAUMENI SYNDROME (OMIM:151623)
Gene: TP53
Phenotype: Prostate cancer (HP:0012125)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: TP53
Phenotype: Stomach cancer (HP:0012126)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: TP53
Phenotype: Erythroid hypoplasia (HP:0012133)
Associated disease: BONE MARROW FAILURE SYNDROME 5 (OMIM:618165)
Gene: TP53
Phenotype: Elevated serum 11-deoxycortisol (HP:0025436)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TP53
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: Osteosarcoma; Osteogenic sarcoma (ORPHA:668)
Gene: TP53
Phenotype: Hypogonadism (HP:0000135)
Associated disease: BONE MARROW FAILURE SYNDROME 5 (OMIM:618165)
Gene: TP53
Phenotype: Osteolysis (HP:0002797)
Associated disease: Osteosarcoma; Osteogenic sarcoma (ORPHA:668)
Gene: TP53
Phenotype: Increased level of L-fucose in urine (HP:0410067)
Associated disease: PANCREATIC CANCER (OMIM:260350)
Gene: TP53
Phenotype: Flushing (HP:0031284)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Abnormal circulating dehydroepiandrosterone concentration (HP:0500022)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TP53
Phenotype: Moon facies (HP:0500011)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Reticular hyperpigmentation (HP:0007588)
Associated disease: BONE MARROW FAILURE SYNDROME 5 (OMIM:618165)
Gene: TP53
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: Osteosarcoma; Osteogenic sarcoma (ORPHA:668)
Gene: TP53
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: TP53
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: PANCREATIC CANCER (OMIM:260350)
Gene: TP53
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: GLIOMA SUSCEPTIBILITY 1 (OMIM:137800)
Gene: TP53
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: HEPATOCELLULAR CARCINOMA (OMIM:114550)
Gene: TP53
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: OSTEOGENIC SARCOMA (OMIM:259500)
Gene: TP53
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: TP53
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: TP53
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: HEPATOCELLULAR CARCINOMA (OMIM:114550)
Gene: TP53
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: BONE MARROW FAILURE SYNDROME 5 (OMIM:618165)
Gene: TP53
Phenotype: Oral leukoplakia (HP:0002745)
Associated disease: BONE MARROW FAILURE SYNDROME 5 (OMIM:618165)
Gene: TP53
Phenotype: Micronodular cirrhosis (HP:0001413)
Associated disease: HEPATOCELLULAR CARCINOMA (OMIM:114550)
Gene: TP53
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: TP53
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Nausea (HP:0002018)
Associated disease: PAPILLOMA OF CHOROID PLEXUS (OMIM:260500)
Gene: TP53
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: TP53
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TP53
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: TP53
Phenotype: Vomiting (HP:0002013)
Associated disease: PAPILLOMA OF CHOROID PLEXUS (OMIM:260500)
Gene: TP53
Phenotype: Neoplasm of the lung (HP:0100526)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: TP53
Phenotype: Abnormality of the respiratory system (HP:0002086)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: CPP; Choroid plexus papilloma; Papilloma of choroid plexus (ORPHA:2807)
Gene: TP53
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: BONE MARROW FAILURE SYNDROME 5 (OMIM:618165)
Gene: TP53
Phenotype: Migraine (HP:0002076)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: TP53
Phenotype: Anorexia (HP:0002039)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: TP53
Phenotype: Adrenocorticotropic hormone deficiency (HP:0011748)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TP53
Phenotype: Amaurosis fugax (HP:0100576)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: TP53
Phenotype: Peritoneal abscess (HP:0100592)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: TP53
Phenotype: Impaired glucose tolerance (HP:0040270)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Paradoxical increased cortisol secretion on dexamethasone suppression test (HP:0003466)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Paradoxical increased cortisol secretion on dexamethasone suppression test (HP:0003466)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TP53
Phenotype: Back pain (HP:0003418)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: TP53
Phenotype: Abnormal platelet morphology (HP:0011875)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: TP53
Phenotype: Adrenal hyperplasia (HP:0008221)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Paresthesia (HP:0003401)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: TP53
Phenotype: Pituitary corticotropic cell adenoma (HP:0008291)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Astrocytoma (HP:0009592)
Associated disease: GLIOMA SUSCEPTIBILITY 1 (OMIM:137800)
Gene: TP53
Phenotype: Astrocytoma (HP:0009592)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: TP53
Phenotype: Infantile onset (HP:0003593)
Associated disease: BONE MARROW FAILURE SYNDROME 5 (OMIM:618165)
Gene: TP53
Phenotype: Intermittent diarrhea (HP:0002254)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: TP53
Phenotype: Adult onset (HP:0003581)
Associated disease: PANCREATIC CANCER (OMIM:260350)
Gene: TP53
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: BONE MARROW FAILURE SYNDROME 5 (OMIM:618165)
Gene: TP53
Phenotype: Choriocarcinoma (HP:0100768)
Associated disease: LI-FRAUMENI SYNDROME (OMIM:151623)
Gene: TP53
Phenotype: Choriocarcinoma (HP:0100768)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: TP53
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: BONE MARROW FAILURE SYNDROME 5 (OMIM:618165)
Gene: TP53
Phenotype: Prostate neoplasm (HP:0100787)
Associated disease: LI-FRAUMENI SYNDROME (OMIM:151623)
Gene: TP53
Phenotype: Insomnia (HP:0100785)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: TP53
Phenotype: Renal neoplasm (HP:0009726)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: TP53
Phenotype: Neoplasm of the rectum (HP:0100743)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: TP53
Phenotype: Chest pain (HP:0100749)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: TP53
Phenotype: Paranoia (HP:0011999)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Myelofibrosis (HP:0011974)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: TP53
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: TP53
Phenotype: Poor wound healing (HP:0001058)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Plethora (HP:0001050)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Capillary fragility (HP:0025017)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Striae distensae (HP:0001065)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Striae distensae (HP:0001065)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TP53
Phenotype: Acne (HP:0001061)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Hirsutism (HP:0001007)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Memory impairment (HP:0002354)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Vertigo (HP:0002321)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: TP53
Phenotype: Headache (HP:0002315)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: TP53
Phenotype: Headache (HP:0002315)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Headache (HP:0002315)
Associated disease: PAPILLOMA OF CHOROID PLEXUS (OMIM:260500)
Gene: TP53
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: TP53
Phenotype: Choroid plexus papilloma (HP:0200022)
Associated disease: PAPILLOMA OF CHOROID PLEXUS (OMIM:260500)
Gene: TP53
Phenotype: Choroid plexus papilloma (HP:0200022)
Associated disease: CPP; Choroid plexus papilloma; Papilloma of choroid plexus (ORPHA:2807)
Gene: TP53
Phenotype: Abnormal cerebral vascular morphology (HP:0100659)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: TP53
Phenotype: Neoplasm of the larynx (HP:0100605)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: TP53
Phenotype: Colorectal polyposis (HP:0200063)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: TP53
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: TP53
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: TP53
Phenotype: Neoplasia of the nasopharynx (HP:0100630)
Associated disease: NASOPHARYNGEAL CARCINOMA (OMIM:607107)
Gene: TP53
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Papilledema (HP:0001085)
Associated disease: PAPILLOMA OF CHOROID PLEXUS (OMIM:260500)
Gene: TP53
Phenotype: Testicular neoplasm (HP:0010788)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: TP53
Phenotype: Erythromelalgia (HP:0032147)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: TP53
Phenotype: Proximal amyotrophy (HP:0007126)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Pedal edema (HP:0010741)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Neonatal onset (HP:0003623)
Associated disease: BONE MARROW FAILURE SYNDROME 5 (OMIM:618165)
Gene: TP53
Phenotype: Venous thrombosis (HP:0004936)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: TP53
Phenotype: Abnormal libido (HP:0031845)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Increased megakaryocyte count (HP:0005513)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: TP53
Phenotype: Decreased total eosinophil count (HP:0031891)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: TP53
Phenotype: Abnormal bone marrow cell morphology (HP:0005561)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: TP53
Phenotype: Palpitations (HP:0001962)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TP53
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: TP53
Phenotype: Fever (HP:0001945)
Associated disease: Osteosarcoma; Osteogenic sarcoma (ORPHA:668)
Gene: TP53
Phenotype: Truncal obesity (HP:0001956)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TP53
Phenotype: Leukemia (HP:0001909)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: TP53
Phenotype: Anemia (HP:0001903)
Associated disease: BONE MARROW FAILURE SYNDROME 5 (OMIM:618165)
Gene: TP53
Phenotype: Recurrent cutaneous fungal infections (HP:0011370)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Abnormal nervous system morphology (HP:0012639)
Associated disease: CPP; Choroid plexus papilloma; Papilloma of choroid plexus (ORPHA:2807)
Gene: TP53
Phenotype: Increased body weight (HP:0004324)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Increased body weight (HP:0004324)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TP53
Phenotype: Short stature (HP:0004322)
Associated disease: BONE MARROW FAILURE SYNDROME 5 (OMIM:618165)
Gene: TP53
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: LI-FRAUMENI SYNDROME (OMIM:151623)
Gene: TP53
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: TP53
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: TP53
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)