TaoMedAI/RareMedData huggingface dataset:
Gene: CD46
Phenotype: Placental abruption (HP:0011419)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CD46
Phenotype: Childhood onset (HP:0011463)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 (OMIM:612922)
Gene: CD46
Phenotype: Hematuria (HP:0000790)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 (OMIM:612922)
Gene: CD46
Phenotype: Increased blood urea nitrogen (HP:0003138)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 (OMIM:612922)
Gene: CD46
Phenotype: Hypertension (HP:0000822)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 (OMIM:612922)
Gene: CD46
Phenotype: Shoulder pain (HP:0030834)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CD46
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 (OMIM:612922)
Gene: CD46
Phenotype: Maternal hypertension (HP:0008071)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CD46
Phenotype: Decreased mean corpuscular hemoglobin concentration (HP:0025547)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CD46
Phenotype: Fatigue (HP:0012378)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CD46
Phenotype: Internal hemorrhage (HP:0011029)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CD46
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CD46
Phenotype: Decreased circulating complement C3 concentration (HP:0005421)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 (OMIM:612922)
Gene: CD46
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CD46
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 (OMIM:612922)
Gene: CD46
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: MDH1
Phenotype: Hyperglutamatemia (HP:0500149)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88 (OMIM:618959)
Gene: MDH1
Phenotype: Hypertonia (HP:0001276)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88 (OMIM:618959)
Gene: MDH1
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88 (OMIM:618959)
Gene: MDH1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88 (OMIM:618959)
Gene: MDH1
Phenotype: Infra-orbital crease (HP:0100876)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88 (OMIM:618959)
Gene: MDH1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88 (OMIM:618959)
Gene: MDH1
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88 (OMIM:618959)
Gene: MDH1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88 (OMIM:618959)
Gene: MDH1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88 (OMIM:618959)
Gene: MDH1
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88 (OMIM:618959)
Gene: MDH1
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88 (OMIM:618959)
Gene: MDH1
Phenotype: Inferior cerebellar vermis hypoplasia (HP:0007068)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88 (OMIM:618959)
Gene: MDH1
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88 (OMIM:618959)
Gene: MDH1
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88 (OMIM:618959)
Gene: MDH1
Phenotype: Growth delay (HP:0001510)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88 (OMIM:618959)
Gene: MDH1
Phenotype: High forehead (HP:0000348)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88 (OMIM:618959)
Gene: MDH1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88 (OMIM:618959)
Gene: MDH2
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51 (OMIM:617339)
Gene: MDH2
Phenotype: Pulsatile tinnitus (HP:0008629)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MDH2
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51 (OMIM:617339)
Gene: MDH2
Phenotype: Poor head control (HP:0002421)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51 (OMIM:617339)
Gene: MDH2
Phenotype: Panic attack (HP:0025269)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MDH2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MDH2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51 (OMIM:617339)
Gene: MDH2
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51 (OMIM:617339)
Gene: MDH2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51 (OMIM:617339)
Gene: MDH2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51 (OMIM:617339)
Gene: MDH2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51 (OMIM:617339)
Gene: MDH2
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51 (OMIM:617339)
Gene: MDH2
Phenotype: Episodic abdominal pain (HP:0002574)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MDH2
Phenotype: Corpus callosum atrophy (HP:0007371)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51 (OMIM:617339)
Gene: MDH2
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51 (OMIM:617339)
Gene: MDH2
Phenotype: Inability to walk (HP:0002540)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51 (OMIM:617339)
Gene: MDH2
Phenotype: Glomerular sclerosis (HP:0000096)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MDH2
Phenotype: Proteinuria (HP:0000093)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MDH2
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51 (OMIM:617339)
Gene: MDH2
Phenotype: Dystonia (HP:0001332)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51 (OMIM:617339)
Gene: MDH2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51 (OMIM:617339)
Gene: MDH2
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MDH2
Phenotype: Absent speech (HP:0001344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51 (OMIM:617339)
Gene: MDH2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51 (OMIM:617339)
Gene: MDH2
Phenotype: Paraganglioma (HP:0002668)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MDH2
Phenotype: Tremor (HP:0001337)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MDH2
Phenotype: Hypertension associated with pheochromocytoma (HP:0002640)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MDH2
Phenotype: Flushing (HP:0031284)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MDH2
Phenotype: Nausea (HP:0002018)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MDH2
Phenotype: Constipation (HP:0002019)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51 (OMIM:617339)
Gene: MDH2
Phenotype: Elevated urinary norepinephrine level (HP:0003345)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MDH2
Phenotype: Delayed ability to crawl (HP:0033128)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51 (OMIM:617339)
Gene: MDH2
Phenotype: Sinus tachycardia (HP:0011703)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MDH2
Phenotype: Babinski sign (HP:0003487)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51 (OMIM:617339)
Gene: MDH2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51 (OMIM:617339)
Gene: MDH2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51 (OMIM:617339)
Gene: MDH2
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51 (OMIM:617339)
Gene: MDH2
Phenotype: Paroxysmal vertigo (HP:0010532)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MDH2
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51 (OMIM:617339)
Gene: MDH2
Phenotype: Positive regitine blocking test (HP:0003574)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MDH2
Phenotype: Elevated circulating calcitonin concentration (HP:0003528)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MDH2
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51 (OMIM:617339)
Gene: MDH2
Phenotype: Retinal capillary hemangioma (HP:0009711)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MDH2
Phenotype: Chest pain (HP:0100749)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MDH2
Phenotype: Elevated urinary dopamine level (HP:0011979)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MDH2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51 (OMIM:617339)
Gene: MDH2
Phenotype: Episodic hyperhidrosis (HP:0001069)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MDH2
Phenotype: Recurrent paroxysmal headache (HP:0002331)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MDH2
Phenotype: Dyskinesia (HP:0100660)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51 (OMIM:617339)
Gene: MDH2
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51 (OMIM:617339)
Gene: MDH2
Phenotype: Hypertensive retinopathy (HP:0001095)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MDH2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51 (OMIM:617339)
Gene: MDH2
Phenotype: Elevated urinary epinephrine level (HP:0003639)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MDH2
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MDH2
Phenotype: Palpitations (HP:0001962)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MDH2
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MDH2
Phenotype: Episodic paroxysmal anxiety (HP:0000740)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MDH2
Phenotype: Hematuria (HP:0000790)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MDH2
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51 (OMIM:617339)
Gene: MDH2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51 (OMIM:617339)
Gene: MDH2
Phenotype: Pallor (HP:0000980)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MDH2
Phenotype: Arachnoid hemangiomatosis (HP:0012222)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MDH2
Phenotype: Elevated lactate:pyruvate ratio (HP:0032653)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51 (OMIM:617339)
Gene: MDH2
Phenotype: Paraganglioma of head and neck (HP:0002864)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MDH2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51 (OMIM:617339)
Gene: MDH2
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51 (OMIM:617339)
Gene: MDH2
Phenotype: Fatigue (HP:0012378)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MDH2
Phenotype: Vocal cord paralysis (HP:0001605)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MDH2
Phenotype: Dysphonia (HP:0001618)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MDH2
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51 (OMIM:617339)
Gene: MDH2
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MDH2
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MDH2
Phenotype: Strabismus (HP:0000486)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51 (OMIM:617339)
Gene: MDH2
Phenotype: Adrenal pheochromocytoma (HP:0006748)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MDH2
Phenotype: Extraadrenal pheochromocytoma (HP:0006737)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MDH2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51 (OMIM:617339)
Gene: MDH2
Phenotype: Aniridia (HP:0000526)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MDH2
Phenotype: Weight loss (HP:0001824)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MDM2
Phenotype: Gastrointestinal dysmotility (HP:0002579)
Associated disease: WDLS; Atypical lipoma; Well-differentiated liposarcoma; Atypical lipomatous tumor; ALT (ORPHA:99971)
Gene: MDM2
Phenotype: Neoplasm of the gastrointestinal tract (HP:0007378)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: MDM2
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: LESSEL-KUBISCH SYNDROME (OMIM:618681)
Gene: MDM2
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: LESSEL-KUBISCH SYNDROME (OMIM:618681)
Gene: MDM2
Phenotype: Neoplasm (HP:0002664)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: MDM2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LESSEL-KUBISCH SYNDROME (OMIM:618681)
Gene: MDM2
Phenotype: Osteosarcoma (HP:0002669)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: MDM2
Phenotype: Lymphoma (HP:0002665)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: MDM2
Phenotype: Hodgkin lymphoma (HP:0012189)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: MDM2
Phenotype: Glioblastoma multiforme (HP:0012174)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: MDM2
Phenotype: Narrow mouth (HP:0000160)
Associated disease: LESSEL-KUBISCH SYNDROME (OMIM:618681)
Gene: MDM2
Phenotype: Prostate cancer (HP:0012125)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: MDM2
Phenotype: Stomach cancer (HP:0012126)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: MDM2
Phenotype: Hypogonadism (HP:0000135)
Associated disease: LESSEL-KUBISCH SYNDROME (OMIM:618681)
Gene: MDM2
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: WDLS; Atypical lipoma; Well-differentiated liposarcoma; Atypical lipomatous tumor; ALT (ORPHA:99971)
Gene: MDM2
Phenotype: Neoplasm of the lung (HP:0100526)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: MDM2
Phenotype: Astrocytoma (HP:0009592)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: MDM2
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: LESSEL-KUBISCH SYNDROME (OMIM:618681)
Gene: MDM2
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: LESSEL-KUBISCH SYNDROME (OMIM:618681)
Gene: MDM2
Phenotype: Choriocarcinoma (HP:0100768)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: MDM2
Phenotype: Renal neoplasm (HP:0009726)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: MDM2
Phenotype: Neoplasm of the rectum (HP:0100743)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: MDM2
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: MDM2
Phenotype: Neoplasm of the larynx (HP:0100605)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: MDM2
Phenotype: Colorectal polyposis (HP:0200063)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: MDM2
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: MDM2
Phenotype: Testicular neoplasm (HP:0010788)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: MDM2
Phenotype: Leukemia (HP:0001909)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: MDM2
Phenotype: Short stature (HP:0004322)
Associated disease: LESSEL-KUBISCH SYNDROME (OMIM:618681)
Gene: MDM2
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: MDM2
Phenotype: Colon cancer (HP:0003003)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: MDM2
Phenotype: Neoplasm of the central nervous system (HP:0100006)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: MDM2
Phenotype: Hypertension (HP:0000822)
Associated disease: LESSEL-KUBISCH SYNDROME (OMIM:618681)
Gene: MDM2
Phenotype: Neoplasm of head and neck (HP:0012288)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: MDM2
Phenotype: Central primitive neuroectodermal tumor (HP:0030070)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: MDM2
Phenotype: Abnormal renal physiology (HP:0012211)
Associated disease: WDLS; Atypical lipoma; Well-differentiated liposarcoma; Atypical lipomatous tumor; ALT (ORPHA:99971)
Gene: MDM2
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: MDM2
Phenotype: Thyroid carcinoma (HP:0002890)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: MDM2
Phenotype: Ependymoma (HP:0002888)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: MDM2
Phenotype: Medulloblastoma (HP:0002885)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: MDM2
Phenotype: Melanoma (HP:0002861)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: MDM2
Phenotype: Rhabdomyosarcoma (HP:0002859)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: MDM2
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: MDM2
Phenotype: Abnormally high-pitched voice (HP:0001620)
Associated disease: LESSEL-KUBISCH SYNDROME (OMIM:618681)
Gene: MDM2
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: LESSEL-KUBISCH SYNDROME (OMIM:618681)
Gene: MDM2
Phenotype: Adrenocortical carcinoma (HP:0006744)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: MDM2
Phenotype: Acute lymphoblastic leukemia (HP:0006721)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: MDM2
Phenotype: Non-Hodgkin lymphoma (HP:0012539)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: MDM2
Phenotype: Choroid plexus carcinoma (HP:0030392)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: MDM4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BONE MARROW FAILURE SYNDROME 6 (OMIM:618849)
Gene: MDM4
Phenotype: Myalgia (HP:0003326)
Associated disease: BONE MARROW FAILURE SYNDROME 6 (OMIM:618849)
Gene: MDM4
Phenotype: Persistence of hemoglobin F (HP:0011904)
Associated disease: BONE MARROW FAILURE SYNDROME 6 (OMIM:618849)
Gene: MDM4
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: BONE MARROW FAILURE SYNDROME 6 (OMIM:618849)
Gene: MDM4
Phenotype: Increased mean corpuscular volume (HP:0005518)
Associated disease: BONE MARROW FAILURE SYNDROME 6 (OMIM:618849)
Gene: MDM4
Phenotype: Anemia (HP:0001903)
Associated disease: BONE MARROW FAILURE SYNDROME 6 (OMIM:618849)
Gene: MDM4
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: BONE MARROW FAILURE SYNDROME 6 (OMIM:618849)
Gene: MDM4
Phenotype: Osteopenia (HP:0000938)
Associated disease: BONE MARROW FAILURE SYNDROME 6 (OMIM:618849)
Gene: MDM4
Phenotype: Short telomere length (HP:0031413)
Associated disease: BONE MARROW FAILURE SYNDROME 6 (OMIM:618849)
Gene: MDM4
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: BONE MARROW FAILURE SYNDROME 6 (OMIM:618849)
Gene: MDM4
Phenotype: Chronic fatigue (HP:0012432)
Associated disease: BONE MARROW FAILURE SYNDROME 6 (OMIM:618849)