TaoMedAI/RareMedData huggingface dataset:
Gene: LCP2
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: IMMUNODEFICIENCY 81 (OMIM:619374)
Gene: LCP2
Phenotype: Decreased class-switched memory B cell proportion (HP:0030388)
Associated disease: IMMUNODEFICIENCY 81 (OMIM:619374)
Gene: LCT
Phenotype: Decreased small intestinal mucosa lactase level (HP:0025130)
Associated disease: LACTASE DEFICIENCY, CONGENITAL (OMIM:223000)
Gene: LCT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LACTASE DEFICIENCY, CONGENITAL (OMIM:223000)
Gene: LCT
Phenotype: Diarrhea (HP:0002014)
Associated disease: LACTASE DEFICIENCY, CONGENITAL (OMIM:223000)
Gene: LCT
Phenotype: Lactose intolerance (HP:0004789)
Associated disease: LACTASE DEFICIENCY, CONGENITAL (OMIM:223000)
Gene: LCT
Phenotype: Neonatal onset (HP:0003623)
Associated disease: LACTASE DEFICIENCY, CONGENITAL (OMIM:223000)
Gene: LCT
Phenotype: Dehydration (HP:0001944)
Associated disease: LACTASE DEFICIENCY, CONGENITAL (OMIM:223000)
Gene: LCT
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: LACTASE DEFICIENCY, CONGENITAL (OMIM:223000)
Gene: LDHA
Phenotype: Exercise-induced myalgia (HP:0003738)
Associated disease: GSD due to lactate dehydrogenase M-subunit deficiency; Lactate dehydrogenase A deficiency; LDH-M subunit deficiency; Glycogenosis due to lactate dehydrogenase M-subunit deficiency; Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency (ORPHA:284426)
Gene: LDHA
Phenotype: Intermittent generalized erythematous papular rash (HP:0007432)
Associated disease: GSD due to lactate dehydrogenase M-subunit deficiency; Lactate dehydrogenase A deficiency; LDH-M subunit deficiency; Glycogenosis due to lactate dehydrogenase M-subunit deficiency; Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency (ORPHA:284426)
Gene: LDHA
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: GLYCOGEN STORAGE DISEASE XI (OMIM:612933)
Gene: LDHA
Phenotype: Superficial dermal perivascular inflammatory infiltrate (HP:0031190)
Associated disease: GSD due to lactate dehydrogenase M-subunit deficiency; Lactate dehydrogenase A deficiency; LDH-M subunit deficiency; Glycogenosis due to lactate dehydrogenase M-subunit deficiency; Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency (ORPHA:284426)
Gene: LDHA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLYCOGEN STORAGE DISEASE XI (OMIM:612933)
Gene: LDHA
Phenotype: Erythematous plaque (HP:0025474)
Associated disease: GSD due to lactate dehydrogenase M-subunit deficiency; Lactate dehydrogenase A deficiency; LDH-M subunit deficiency; Glycogenosis due to lactate dehydrogenase M-subunit deficiency; Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency (ORPHA:284426)
Gene: LDHA
Phenotype: Predominantly dermal neutrophilic infiltrate (HP:0031236)
Associated disease: GSD due to lactate dehydrogenase M-subunit deficiency; Lactate dehydrogenase A deficiency; LDH-M subunit deficiency; Glycogenosis due to lactate dehydrogenase M-subunit deficiency; Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency (ORPHA:284426)
Gene: LDHA
Phenotype: Myalgia (HP:0003326)
Associated disease: GLYCOGEN STORAGE DISEASE XI (OMIM:612933)
Gene: LDHA
Phenotype: Muscle spasm (HP:0003394)
Associated disease: GLYCOGEN STORAGE DISEASE XI (OMIM:612933)
Gene: LDHA
Phenotype: Rigidity (HP:0002063)
Associated disease: GLYCOGEN STORAGE DISEASE XI (OMIM:612933)
Gene: LDHA
Phenotype: Heat intolerance (HP:0002046)
Associated disease: GSD due to lactate dehydrogenase M-subunit deficiency; Lactate dehydrogenase A deficiency; LDH-M subunit deficiency; Glycogenosis due to lactate dehydrogenase M-subunit deficiency; Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency (ORPHA:284426)
Gene: LDHA
Phenotype: Easy fatigability (HP:0003388)
Associated disease: GSD due to lactate dehydrogenase M-subunit deficiency; Lactate dehydrogenase A deficiency; LDH-M subunit deficiency; Glycogenosis due to lactate dehydrogenase M-subunit deficiency; Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency (ORPHA:284426)
Gene: LDHA
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: GLYCOGEN STORAGE DISEASE XI (OMIM:612933)
Gene: LDHA
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: GLYCOGEN STORAGE DISEASE XI (OMIM:612933)
Gene: LDHA
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: GLYCOGEN STORAGE DISEASE XI (OMIM:612933)
Gene: LDHA
Phenotype: Increased circulating pyruvate concentration (HP:0003542)
Associated disease: GLYCOGEN STORAGE DISEASE XI (OMIM:612933)
Gene: LDHA
Phenotype: Elevated creatine kinase after exercise (HP:0008331)
Associated disease: GSD due to lactate dehydrogenase M-subunit deficiency; Lactate dehydrogenase A deficiency; LDH-M subunit deficiency; Glycogenosis due to lactate dehydrogenase M-subunit deficiency; Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency (ORPHA:284426)
Gene: LDHA
Phenotype: Exercise-induced myoglobinuria (HP:0008305)
Associated disease: GSD due to lactate dehydrogenase M-subunit deficiency; Lactate dehydrogenase A deficiency; LDH-M subunit deficiency; Glycogenosis due to lactate dehydrogenase M-subunit deficiency; Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency (ORPHA:284426)
Gene: LDHA
Phenotype: Parakeratosis (HP:0001036)
Associated disease: GSD due to lactate dehydrogenase M-subunit deficiency; Lactate dehydrogenase A deficiency; LDH-M subunit deficiency; Glycogenosis due to lactate dehydrogenase M-subunit deficiency; Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency (ORPHA:284426)
Gene: LDHA
Phenotype: Pustule (HP:0200039)
Associated disease: GSD due to lactate dehydrogenase M-subunit deficiency; Lactate dehydrogenase A deficiency; LDH-M subunit deficiency; Glycogenosis due to lactate dehydrogenase M-subunit deficiency; Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency (ORPHA:284426)
Gene: LDHA
Phenotype: Juvenile onset (HP:0003621)
Associated disease: GLYCOGEN STORAGE DISEASE XI (OMIM:612933)
Gene: LDHA
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: GSD due to lactate dehydrogenase M-subunit deficiency; Lactate dehydrogenase A deficiency; LDH-M subunit deficiency; Glycogenosis due to lactate dehydrogenase M-subunit deficiency; Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency (ORPHA:284426)
Gene: LDHA
Phenotype: Acute kidney injury (HP:0001919)
Associated disease: GSD due to lactate dehydrogenase M-subunit deficiency; Lactate dehydrogenase A deficiency; LDH-M subunit deficiency; Glycogenosis due to lactate dehydrogenase M-subunit deficiency; Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency (ORPHA:284426)
Gene: LDHA
Phenotype: Regional abnormality of skin (HP:0011356)
Associated disease: GSD due to lactate dehydrogenase M-subunit deficiency; Lactate dehydrogenase A deficiency; LDH-M subunit deficiency; Glycogenosis due to lactate dehydrogenase M-subunit deficiency; Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency (ORPHA:284426)
Gene: LDHA
Phenotype: Exercise-induced rhabdomyolysis (HP:0009045)
Associated disease: GSD due to lactate dehydrogenase M-subunit deficiency; Lactate dehydrogenase A deficiency; LDH-M subunit deficiency; Glycogenosis due to lactate dehydrogenase M-subunit deficiency; Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency (ORPHA:284426)
Gene: LDHA
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: GSD due to lactate dehydrogenase M-subunit deficiency; Lactate dehydrogenase A deficiency; LDH-M subunit deficiency; Glycogenosis due to lactate dehydrogenase M-subunit deficiency; Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency (ORPHA:284426)
Gene: LDHA
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: GLYCOGEN STORAGE DISEASE XI (OMIM:612933)
Gene: LDHA
Phenotype: Rhabdomyolysis (HP:0003201)
Associated disease: GLYCOGEN STORAGE DISEASE XI (OMIM:612933)
Gene: LDHA
Phenotype: Abnormal circulating lactate dehydrogenase concentration (HP:0045040)
Associated disease: GSD due to lactate dehydrogenase M-subunit deficiency; Lactate dehydrogenase A deficiency; LDH-M subunit deficiency; Glycogenosis due to lactate dehydrogenase M-subunit deficiency; Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency (ORPHA:284426)
Gene: LDHA
Phenotype: Pruritus (HP:0000989)
Associated disease: GSD due to lactate dehydrogenase M-subunit deficiency; Lactate dehydrogenase A deficiency; LDH-M subunit deficiency; Glycogenosis due to lactate dehydrogenase M-subunit deficiency; Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency (ORPHA:284426)
Gene: LDHA
Phenotype: Scaling skin (HP:0040189)
Associated disease: GSD due to lactate dehydrogenase M-subunit deficiency; Lactate dehydrogenase A deficiency; LDH-M subunit deficiency; Glycogenosis due to lactate dehydrogenase M-subunit deficiency; Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency (ORPHA:284426)
Gene: LDHA
Phenotype: Psoriasiform lesion (HP:0025526)
Associated disease: GSD due to lactate dehydrogenase M-subunit deficiency; Lactate dehydrogenase A deficiency; LDH-M subunit deficiency; Glycogenosis due to lactate dehydrogenase M-subunit deficiency; Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency (ORPHA:284426)
Gene: LDHA
Phenotype: Annular cutaneous lesion (HP:0025528)
Associated disease: GSD due to lactate dehydrogenase M-subunit deficiency; Lactate dehydrogenase A deficiency; LDH-M subunit deficiency; Glycogenosis due to lactate dehydrogenase M-subunit deficiency; Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency (ORPHA:284426)
Gene: LDHA
Phenotype: Myoglobinuria (HP:0002913)
Associated disease: GLYCOGEN STORAGE DISEASE XI (OMIM:612933)
Gene: LDHA
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: GSD due to lactate dehydrogenase M-subunit deficiency; Lactate dehydrogenase A deficiency; LDH-M subunit deficiency; Glycogenosis due to lactate dehydrogenase M-subunit deficiency; Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency (ORPHA:284426)
Gene: LDHA
Phenotype: Abnormal delivery (HP:0001787)
Associated disease: GSD due to lactate dehydrogenase M-subunit deficiency; Lactate dehydrogenase A deficiency; LDH-M subunit deficiency; Glycogenosis due to lactate dehydrogenase M-subunit deficiency; Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency (ORPHA:284426)
Gene: LDHB
Phenotype: Reduced circulating lactate dehydrogenase concentration (HP:0045041)
Associated disease: LACTATE DEHYDROGENASE B DEFICIENCY (OMIM:614128)
Gene: LDLR
Phenotype: Optic neuropathy (HP:0001138)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLR
Phenotype: Xanthelasma (HP:0001114)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 (OMIM:143890)
Gene: LDLR
Phenotype: Tendon xanthomatosis (HP:0010874)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLR
Phenotype: Tendon xanthomatosis (HP:0010874)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 (OMIM:143890)
Gene: LDLR
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 (OMIM:143890)
Gene: LDLR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 (OMIM:143890)
Gene: LDLR
Phenotype: Dyspnea (HP:0002094)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLR
Phenotype: Cerebral artery atherosclerosis (HP:0007201)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLR
Phenotype: Corneal arcus (HP:0001084)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 (OMIM:143890)
Gene: LDLR
Phenotype: Calcification of the aorta (HP:0004963)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLR
Phenotype: Peripheral arterial stenosis (HP:0004950)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLR
Phenotype: Renal artery stenosis (HP:0001920)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLR
Phenotype: Abnormal nervous system physiology (HP:0012638)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLR
Phenotype: Hyperlipidemia (HP:0003077)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLR
Phenotype: Supravalvular aortic stenosis (HP:0004381)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLR
Phenotype: Renal steatosis (HP:0000799)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLR
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLR
Phenotype: Precocious atherosclerosis (HP:0004416)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLR
Phenotype: Increased LDL cholesterol concentration (HP:0003141)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLR
Phenotype: Increased LDL cholesterol concentration (HP:0003141)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 (OMIM:143890)
Gene: LDLR
Phenotype: Hypertension (HP:0000822)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLR
Phenotype: Coronary artery aneurysm (HP:0030882)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLR
Phenotype: Abnormal tendon morphology (HP:0100261)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLR
Phenotype: Xanthomatosis (HP:0000991)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLR
Phenotype: Arthralgia (HP:0002829)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLR
Phenotype: Aortic atherosclerotic lesion (HP:0012397)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLR
Phenotype: Abnormal eye physiology (HP:0012373)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLR
Phenotype: Premature arteriosclerosis (HP:0005177)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLR
Phenotype: Premature coronary artery atherosclerosis (HP:0005181)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLR
Phenotype: Abnormal left ventricular function (HP:0005162)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLR
Phenotype: Angina pectoris (HP:0001681)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLR
Phenotype: Coronary artery atherosclerosis (HP:0001677)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLR
Phenotype: Coronary artery atherosclerosis (HP:0001677)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 (OMIM:143890)
Gene: LDLR
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLR
Phenotype: Heart murmur (HP:0030148)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLR
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLR
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLR
Phenotype: Myocardial steatosis (HP:0006693)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LDLR
Phenotype: Abnormal internal carotid artery morphology (HP:3000062)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: LEP
Phenotype: Decreased proportion of CD4-positive T cells (HP:0032218)
Associated disease: Obesity due to congenital leptin deficiency (ORPHA:66628)
Gene: LEP
Phenotype: Polyphagia (HP:0002591)
Associated disease: Obesity due to congenital leptin deficiency (ORPHA:66628)
Gene: LEP
Phenotype: Polyphagia (HP:0002591)
Associated disease: LEPTIN DEFICIENCY OR DYSFUNCTION (OMIM:614962)
Gene: LEP
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Obesity due to congenital leptin deficiency (ORPHA:66628)
Gene: LEP
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: LEPTIN DEFICIENCY OR DYSFUNCTION (OMIM:614962)
Gene: LEP
Phenotype: Hypoplasia of the ovary (HP:0008724)
Associated disease: Obesity due to congenital leptin deficiency (ORPHA:66628)
Gene: LEP
Phenotype: Micropenis (HP:0000054)
Associated disease: LEPTIN DEFICIENCY OR DYSFUNCTION (OMIM:614962)
Gene: LEP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEPTIN DEFICIENCY OR DYSFUNCTION (OMIM:614962)
Gene: LEP
Phenotype: Hypogonadism (HP:0000135)
Associated disease: LEPTIN DEFICIENCY OR DYSFUNCTION (OMIM:614962)
Gene: LEP
Phenotype: Recurrent ear infections (HP:0410018)
Associated disease: LEPTIN DEFICIENCY OR DYSFUNCTION (OMIM:614962)
Gene: LEP
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: Obesity due to congenital leptin deficiency (ORPHA:66628)
Gene: LEP
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: LEPTIN DEFICIENCY OR DYSFUNCTION (OMIM:614962)
Gene: LEP
Phenotype: Absence of secondary sex characteristics (HP:0008187)
Associated disease: Obesity due to congenital leptin deficiency (ORPHA:66628)
Gene: LEP
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: Obesity due to congenital leptin deficiency (ORPHA:66628)
Gene: LEP
Phenotype: Pituitary hypothyroidism (HP:0008245)
Associated disease: Obesity due to congenital leptin deficiency (ORPHA:66628)
Gene: LEP
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: Obesity due to congenital leptin deficiency (ORPHA:66628)
Gene: LEP
Phenotype: Orthostatic hypotension due to autonomic dysfunction (HP:0004926)
Associated disease: Obesity due to congenital leptin deficiency (ORPHA:66628)
Gene: LEP
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: Obesity due to congenital leptin deficiency (ORPHA:66628)
Gene: LEP
Phenotype: Gynecomastia (HP:0000771)
Associated disease: Obesity due to congenital leptin deficiency (ORPHA:66628)
Gene: LEP
Phenotype: Gynecomastia (HP:0000771)
Associated disease: LEPTIN DEFICIENCY OR DYSFUNCTION (OMIM:614962)
Gene: LEP
Phenotype: Childhood onset (HP:0011463)
Associated disease: LEPTIN DEFICIENCY OR DYSFUNCTION (OMIM:614962)
Gene: LEP
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: Obesity due to congenital leptin deficiency (ORPHA:66628)
Gene: LEP
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: LEPTIN DEFICIENCY OR DYSFUNCTION (OMIM:614962)
Gene: LEP
Phenotype: Insulin-resistant diabetes mellitus (HP:0000831)
Associated disease: Obesity due to congenital leptin deficiency (ORPHA:66628)
Gene: LEP
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Obesity due to congenital leptin deficiency (ORPHA:66628)
Gene: LEP
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: Obesity due to congenital leptin deficiency (ORPHA:66628)
Gene: LEP
Phenotype: Decreased serum leptin (HP:0003292)
Associated disease: LEPTIN DEFICIENCY OR DYSFUNCTION (OMIM:614962)
Gene: LEP
Phenotype: Decreased serum leptin (HP:0003292)
Associated disease: Obesity due to congenital leptin deficiency (ORPHA:66628)
Gene: LEP
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: Obesity due to congenital leptin deficiency (ORPHA:66628)
Gene: LEP
Phenotype: Obesity (HP:0001513)
Associated disease: LEPTIN DEFICIENCY OR DYSFUNCTION (OMIM:614962)
Gene: LEP
Phenotype: Obesity (HP:0001513)
Associated disease: Obesity due to congenital leptin deficiency (ORPHA:66628)
Gene: LEP
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: LEPTIN DEFICIENCY OR DYSFUNCTION (OMIM:614962)
Gene: LEP
Phenotype: Decreased T cell activation (HP:0005419)
Associated disease: Obesity due to congenital leptin deficiency (ORPHA:66628)
Gene: LEPR
Phenotype: Decreased proportion of CD4-positive T cells (HP:0032218)
Associated disease: Obesity due to leptin receptor gene deficiency (ORPHA:179494)
Gene: LEPR
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LEPTIN RECEPTOR DEFICIENCY (OMIM:614963)
Gene: LEPR
Phenotype: Polyphagia (HP:0002591)
Associated disease: LEPTIN RECEPTOR DEFICIENCY (OMIM:614963)
Gene: LEPR
Phenotype: Polyphagia (HP:0002591)
Associated disease: Obesity due to leptin receptor gene deficiency (ORPHA:179494)
Gene: LEPR
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Obesity due to leptin receptor gene deficiency (ORPHA:179494)
Gene: LEPR
Phenotype: Hypoplasia of the ovary (HP:0008724)
Associated disease: Obesity due to leptin receptor gene deficiency (ORPHA:179494)
Gene: LEPR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEPTIN RECEPTOR DEFICIENCY (OMIM:614963)
Gene: LEPR
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: LEPTIN RECEPTOR DEFICIENCY (OMIM:614963)
Gene: LEPR
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: Obesity due to leptin receptor gene deficiency (ORPHA:179494)
Gene: LEPR
Phenotype: Absence of secondary sex characteristics (HP:0008187)
Associated disease: Obesity due to leptin receptor gene deficiency (ORPHA:179494)
Gene: LEPR
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: Obesity due to leptin receptor gene deficiency (ORPHA:179494)
Gene: LEPR
Phenotype: Pituitary hypothyroidism (HP:0008245)
Associated disease: LEPTIN RECEPTOR DEFICIENCY (OMIM:614963)
Gene: LEPR
Phenotype: Pituitary hypothyroidism (HP:0008245)
Associated disease: Obesity due to leptin receptor gene deficiency (ORPHA:179494)
Gene: LEPR
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: Obesity due to leptin receptor gene deficiency (ORPHA:179494)
Gene: LEPR
Phenotype: Infantile onset (HP:0003593)
Associated disease: LEPTIN RECEPTOR DEFICIENCY (OMIM:614963)
Gene: LEPR
Phenotype: Abnormal eating behavior (HP:0100738)
Associated disease: LEPTIN RECEPTOR DEFICIENCY (OMIM:614963)
Gene: LEPR
Phenotype: Orthostatic hypotension due to autonomic dysfunction (HP:0004926)
Associated disease: Obesity due to leptin receptor gene deficiency (ORPHA:179494)
Gene: LEPR
Phenotype: Short stature (HP:0004322)
Associated disease: LEPTIN RECEPTOR DEFICIENCY (OMIM:614963)
Gene: LEPR
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: Obesity due to leptin receptor gene deficiency (ORPHA:179494)
Gene: LEPR
Phenotype: Gynecomastia (HP:0000771)
Associated disease: Obesity due to leptin receptor gene deficiency (ORPHA:179494)
Gene: LEPR
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: LEPTIN RECEPTOR DEFICIENCY (OMIM:614963)
Gene: LEPR
Phenotype: Emotional lability (HP:0000712)
Associated disease: LEPTIN RECEPTOR DEFICIENCY (OMIM:614963)
Gene: LEPR
Phenotype: Emotional lability (HP:0000712)
Associated disease: Obesity due to leptin receptor gene deficiency (ORPHA:179494)
Gene: LEPR
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: Obesity due to leptin receptor gene deficiency (ORPHA:179494)
Gene: LEPR
Phenotype: Insulin-resistant diabetes mellitus (HP:0000831)
Associated disease: Obesity due to leptin receptor gene deficiency (ORPHA:179494)
Gene: LEPR
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Obesity due to leptin receptor gene deficiency (ORPHA:179494)