TaoMedAI/RareMedData huggingface dataset:
Gene: MMAB
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: METHYLMALONIC ACIDURIA, cblB TYPE (OMIM:251110)
Gene: MMAB
Phenotype: Ketosis (HP:0001946)
Associated disease: METHYLMALONIC ACIDURIA, cblB TYPE (OMIM:251110)
Gene: MMAB
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: METHYLMALONIC ACIDURIA, cblB TYPE (OMIM:251110)
Gene: MMAB
Phenotype: Anemia (HP:0001903)
Associated disease: METHYLMALONIC ACIDURIA, cblB TYPE (OMIM:251110)
Gene: MMAB
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: METHYLMALONIC ACIDURIA, cblB TYPE (OMIM:251110)
Gene: MMAB
Phenotype: Childhood onset (HP:0011463)
Associated disease: METHYLMALONIC ACIDURIA, cblB TYPE (OMIM:251110)
Gene: MMAB
Phenotype: Abnormal circulating vitamin B12 concentration (HP:0040126)
Associated disease: METHYLMALONIC ACIDURIA, cblB TYPE (OMIM:251110)
Gene: MMAB
Phenotype: Decreased circulating adenosylcobalamin concentration (HP:0003145)
Associated disease: METHYLMALONIC ACIDURIA, cblB TYPE (OMIM:251110)
Gene: MMAB
Phenotype: Decreased methylmalonyl-CoA mutase activity (HP:0003210)
Associated disease: METHYLMALONIC ACIDURIA, cblB TYPE (OMIM:251110)
Gene: MMAB
Phenotype: Failure to thrive (HP:0001508)
Associated disease: METHYLMALONIC ACIDURIA, cblB TYPE (OMIM:251110)
Gene: MMAB
Phenotype: Elevated circulating methylmalonylcarnitine concentration (HP:0035024)
Associated disease: METHYLMALONIC ACIDURIA, cblB TYPE (OMIM:251110)
Gene: MMAB
Phenotype: Ketonuria (HP:0002919)
Associated disease: METHYLMALONIC ACIDURIA, cblB TYPE (OMIM:251110)
Gene: MMAB
Phenotype: Methylmalonic acidemia (HP:0002912)
Associated disease: METHYLMALONIC ACIDURIA, cblB TYPE (OMIM:251110)
Gene: MMAB
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: METHYLMALONIC ACIDURIA, cblB TYPE (OMIM:251110)
Gene: MMAB
Phenotype: Persistent head lag (HP:0032988)
Associated disease: METHYLMALONIC ACIDURIA, cblB TYPE (OMIM:251110)
Gene: MMAB
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: METHYLMALONIC ACIDURIA, cblB TYPE (OMIM:251110)
Gene: MMAB
Phenotype: Pancytopenia (HP:0001876)
Associated disease: METHYLMALONIC ACIDURIA, cblB TYPE (OMIM:251110)
Gene: MMAB
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: METHYLMALONIC ACIDURIA, cblB TYPE (OMIM:251110)
Gene: UBAC2
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Avascular necrosis (HP:0010885)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Glomerulopathy (HP:0100820)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Hemiparesis (HP:0001269)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Meningitis (HP:0001287)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Confusion (HP:0001289)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Seizure (HP:0001250)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Ataxia (HP:0001251)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Glomerulonephritis (HP:0000099)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Arthritis (HP:0001369)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Epididymitis (HP:0000031)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Superficial thrombophlebitis (HP:0002638)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Cerebral ischemia (HP:0002637)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Vasculitis (HP:0002633)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Oral ulcer (HP:0000155)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Panuveitis (HP:0012121)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Malabsorption (HP:0002024)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Myalgia (HP:0003326)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Diarrhea (HP:0002014)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Migraine (HP:0002076)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Anorexia (HP:0002039)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Endocarditis (HP:0100584)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Pleuritis (HP:0002102)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Pulmonary infiltrates (HP:0002113)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Paresthesia (HP:0003401)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Pleural effusion (HP:0002202)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Pulmonary embolism (HP:0002204)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Orchitis (HP:0100796)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Gangrene (HP:0100758)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Infectious encephalitis (HP:0002383)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Acne (HP:0001061)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Developmental regression (HP:0002376)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Memory impairment (HP:0002354)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Vertigo (HP:0002321)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Headache (HP:0002315)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Optic neuritis (HP:0100653)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Retrobulbar optic neuritis (HP:0100654)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Papule (HP:0200034)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Myositis (HP:0100614)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Pustule (HP:0200039)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Venous thrombosis (HP:0004936)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Non-infectious meningitis (HP:0033430)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: AA amyloidosis (HP:4000041)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Blindness (HP:0000618)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Photophobia (HP:0000613)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Fever (HP:0001945)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Recurrent fever (HP:0001954)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Increased inflammatory response (HP:0012649)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Irritability (HP:0000737)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Arterial thrombosis (HP:0004420)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Immunologic hypersensitivity (HP:0100326)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Myocarditis (HP:0012819)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Genital ulcers (HP:0003249)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Arthralgia (HP:0002829)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Positive pathergy test (HP:0025532)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Erythema nodosum (HP:0012219)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Nongranulomatous uveitis (HP:0007813)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Fatigue (HP:0012378)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Abnormal myocardium morphology (HP:0001637)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Pancreatitis (HP:0001733)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Pericarditis (HP:0001701)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Retinopathy (HP:0000488)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Recurrent aphthous stomatitis (HP:0011107)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Cataract (HP:0000518)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Weight loss (HP:0001824)
Associated disease: Behçet disease (ORPHA:117)
Gene: UBAC2
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: Behçet disease (ORPHA:117)
Gene: GPIHBP1
Phenotype: Colitis (HP:0002583)
Associated disease: HYPERLIPOPROTEINEMIA, TYPE ID (OMIM:615947)
Gene: GPIHBP1
Phenotype: Hyperlipoproteinemia (HP:0010980)
Associated disease: HYPERLIPOPROTEINEMIA, TYPE ID (OMIM:615947)
Gene: GPIHBP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERLIPOPROTEINEMIA, TYPE ID (OMIM:615947)
Gene: GPIHBP1
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: HYPERLIPOPROTEINEMIA, TYPE ID (OMIM:615947)
Gene: GPIHBP1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: HYPERLIPOPROTEINEMIA, TYPE ID (OMIM:615947)
Gene: GPIHBP1
Phenotype: Decreased LDL cholesterol concentration (HP:0003563)
Associated disease: HYPERLIPOPROTEINEMIA, TYPE ID (OMIM:615947)
Gene: GPIHBP1
Phenotype: Eruptive xanthomas (HP:0001013)
Associated disease: HYPERLIPOPROTEINEMIA, TYPE ID (OMIM:615947)
Gene: GPIHBP1
Phenotype: Lipemia retinalis (HP:0000660)
Associated disease: HYPERLIPOPROTEINEMIA, TYPE ID (OMIM:615947)
Gene: GPIHBP1
Phenotype: Recurrent pancreatitis (HP:0100027)
Associated disease: HYPERLIPOPROTEINEMIA, TYPE ID (OMIM:615947)
Gene: GPIHBP1
Phenotype: Childhood onset (HP:0011463)
Associated disease: HYPERLIPOPROTEINEMIA, TYPE ID (OMIM:615947)
Gene: GPIHBP1
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: HYPERLIPOPROTEINEMIA, TYPE ID (OMIM:615947)
Gene: GPIHBP1
Phenotype: Increased circulating chylomicron concentration (HP:0012238)
Associated disease: HYPERLIPOPROTEINEMIA, TYPE ID (OMIM:615947)
Gene: GPIHBP1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: HYPERLIPOPROTEINEMIA, TYPE ID (OMIM:615947)
Gene: GPIHBP1
Phenotype: Premature coronary artery atherosclerosis (HP:0005181)
Associated disease: HYPERLIPOPROTEINEMIA, TYPE ID (OMIM:615947)
Gene: GPIHBP1
Phenotype: Pancreatitis (HP:0001733)
Associated disease: HYPERLIPOPROTEINEMIA, TYPE ID (OMIM:615947)
Gene: GPIHBP1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: HYPERLIPOPROTEINEMIA, TYPE ID (OMIM:615947)
Gene: GPIHBP1
Phenotype: Early young adult onset (HP:0025708)
Associated disease: HYPERLIPOPROTEINEMIA, TYPE ID (OMIM:615947)
Gene: SNORD115-1
Phenotype: Syndactyly (HP:0001159)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Sporadic (HP:0003745)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Motor delay (HP:0001270)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Seizure (HP:0001250)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Polyphagia (HP:0002591)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Hypoplastic labia minora (HP:0000064)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Clitoral hypoplasia (HP:0000060)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Small scrotum (HP:0000046)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Micropenis (HP:0000054)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Generalized hypopigmentation (HP:0007513)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Scoliosis (HP:0002650)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Hypoventilation (HP:0002791)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Poor suck (HP:0002033)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Temperature instability (HP:0005968)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Low 5-minute APGAR score (HP:0030919)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Low 1-minute APGAR score (HP:0030918)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Radial deviation of finger (HP:0009466)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Sleep apnea (HP:0010535)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Congenital onset (HP:0003577)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Frontal upsweep of hair (HP:0002236)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Poor gross motor coordination (HP:0007015)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Small hand (HP:0200055)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Tube feeding (HP:0033454)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Acromicria (HP:0031878)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Narrow palm (HP:0004283)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Short palm (HP:0004279)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Carious teeth (HP:0000670)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Short stature (HP:0004322)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Abdominal obesity (HP:0012743)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Autism (HP:0000717)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Psychosis (HP:0000709)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Fetal onset (HP:0011461)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Infertility (HP:0000789)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Precocious puberty (HP:0000826)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Edema (HP:0000969)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Osteopenia (HP:0000938)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Clinodactyly (HP:0030084)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Kyphosis (HP:0002808)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Class III obesity (HP:0025501)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Genu valgum (HP:0002857)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Obesity (HP:0001513)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Breech presentation (HP:0001623)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Strabismus (HP:0000486)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Chronic constipation (HP:0012450)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Short foot (HP:0001773)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Esotropia (HP:0000565)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD115-1
Phenotype: Myopia (HP:0000545)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: KCNK18
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13 (OMIM:613656)
Gene: KCNK18
Phenotype: Migraine without aura (HP:0002083)
Associated disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13 (OMIM:613656)
Gene: KCNK18
Phenotype: Migraine with aura (HP:0002077)
Associated disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13 (OMIM:613656)