TaoMedAI/RareMedData huggingface dataset:
Gene: LIMK1
Phenotype: Abnormal carotid artery morphology (HP:0005344)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: LIMK1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: LIMK1
Phenotype: Macrotia (HP:0000400)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: LIMK1
Phenotype: Strabismus (HP:0000486)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: LIMK1
Phenotype: Megalocornea (HP:0000485)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: LIMK1
Phenotype: Abnormality of the neck (HP:0000464)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: LIMK1
Phenotype: Abnormal social behavior (HP:0012433)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: LIMK1
Phenotype: Pes planus (HP:0001763)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: LIMK1
Phenotype: Protruding ear (HP:0000411)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: LIMK1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: LIMK1
Phenotype: Cataract (HP:0000518)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: LIMK1
Phenotype: Hallux valgus (HP:0001822)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: LIMK1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: LIMK1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: LIMK1
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: LIMK1
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: LIMK1
Phenotype: Myopia (HP:0000545)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: LIPA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Wolman disease (ORPHA:75233)
Gene: LIPA
Phenotype: Steatorrhea (HP:0002570)
Associated disease: Wolman disease (ORPHA:75233)
Gene: LIPA
Phenotype: Steatorrhea (HP:0002570)
Associated disease: LYSOSOMAL ACID LIPASE DEFICIENCY (OMIM:278000)
Gene: LIPA
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: LYSOSOMAL ACID LIPASE DEFICIENCY (OMIM:278000)
Gene: LIPA
Phenotype: Hepatic failure (HP:0001399)
Associated disease: LYSOSOMAL ACID LIPASE DEFICIENCY (OMIM:278000)
Gene: LIPA
Phenotype: Hepatic failure (HP:0001399)
Associated disease: Wolman disease (ORPHA:75233)
Gene: LIPA
Phenotype: Hepatic failure (HP:0001399)
Associated disease: Cholesteryl ester storage disease; Cholesterol ester storage disease (ORPHA:75234)
Gene: LIPA
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: LYSOSOMAL ACID LIPASE DEFICIENCY (OMIM:278000)
Gene: LIPA
Phenotype: Cirrhosis (HP:0001394)
Associated disease: LYSOSOMAL ACID LIPASE DEFICIENCY (OMIM:278000)
Gene: LIPA
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Cholesteryl ester storage disease; Cholesterol ester storage disease (ORPHA:75234)
Gene: LIPA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LYSOSOMAL ACID LIPASE DEFICIENCY (OMIM:278000)
Gene: LIPA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: WOLMAN DISEASE (OMIM:620151)
Gene: LIPA
Phenotype: Arteriosclerosis (HP:0002634)
Associated disease: Cholesteryl ester storage disease; Cholesterol ester storage disease (ORPHA:75234)
Gene: LIPA
Phenotype: Increased hepatic echogenicity (HP:0031141)
Associated disease: LYSOSOMAL ACID LIPASE DEFICIENCY (OMIM:278000)
Gene: LIPA
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: LYSOSOMAL ACID LIPASE DEFICIENCY (OMIM:278000)
Gene: LIPA
Phenotype: Reduced lysosomal acid lipase activity (HP:0031205)
Associated disease: LYSOSOMAL ACID LIPASE DEFICIENCY (OMIM:278000)
Gene: LIPA
Phenotype: Reduced lysosomal acid lipase activity (HP:0031205)
Associated disease: WOLMAN DISEASE (OMIM:620151)
Gene: LIPA
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: LYSOSOMAL ACID LIPASE DEFICIENCY (OMIM:278000)
Gene: LIPA
Phenotype: Portal hypertension (HP:0001409)
Associated disease: LYSOSOMAL ACID LIPASE DEFICIENCY (OMIM:278000)
Gene: LIPA
Phenotype: Periportal fibrosis (HP:0001405)
Associated disease: LYSOSOMAL ACID LIPASE DEFICIENCY (OMIM:278000)
Gene: LIPA
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Wolman disease (ORPHA:75233)
Gene: LIPA
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Cholesteryl ester storage disease; Cholesterol ester storage disease (ORPHA:75234)
Gene: LIPA
Phenotype: Diarrhea (HP:0002014)
Associated disease: LYSOSOMAL ACID LIPASE DEFICIENCY (OMIM:278000)
Gene: LIPA
Phenotype: Diarrhea (HP:0002014)
Associated disease: Cholesteryl ester storage disease; Cholesterol ester storage disease (ORPHA:75234)
Gene: LIPA
Phenotype: Vomiting (HP:0002013)
Associated disease: WOLMAN DISEASE (OMIM:620151)
Gene: LIPA
Phenotype: Vomiting (HP:0002013)
Associated disease: LYSOSOMAL ACID LIPASE DEFICIENCY (OMIM:278000)
Gene: LIPA
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: LYSOSOMAL ACID LIPASE DEFICIENCY (OMIM:278000)
Gene: LIPA
Phenotype: Esophageal varix (HP:0002040)
Associated disease: Wolman disease (ORPHA:75233)
Gene: LIPA
Phenotype: Esophageal varix (HP:0002040)
Associated disease: LYSOSOMAL ACID LIPASE DEFICIENCY (OMIM:278000)
Gene: LIPA
Phenotype: Esophageal varix (HP:0002040)
Associated disease: Cholesteryl ester storage disease; Cholesterol ester storage disease (ORPHA:75234)
Gene: LIPA
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: LYSOSOMAL ACID LIPASE DEFICIENCY (OMIM:278000)
Gene: LIPA
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: Cholesteryl ester storage disease; Cholesterol ester storage disease (ORPHA:75234)
Gene: LIPA
Phenotype: Adrenal calcification (HP:0010512)
Associated disease: LYSOSOMAL ACID LIPASE DEFICIENCY (OMIM:278000)
Gene: LIPA
Phenotype: Adrenal calcification (HP:0010512)
Associated disease: Wolman disease (ORPHA:75233)
Gene: LIPA
Phenotype: Adrenal calcification (HP:0010512)
Associated disease: Cholesteryl ester storage disease; Cholesterol ester storage disease (ORPHA:75234)
Gene: LIPA
Phenotype: Adrenal calcification (HP:0010512)
Associated disease: WOLMAN DISEASE (OMIM:620151)
Gene: LIPA
Phenotype: Infantile onset (HP:0003593)
Associated disease: WOLMAN DISEASE (OMIM:620151)
Gene: LIPA
Phenotype: Infantile onset (HP:0003593)
Associated disease: LYSOSOMAL ACID LIPASE DEFICIENCY (OMIM:278000)
Gene: LIPA
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Wolman disease (ORPHA:75233)
Gene: LIPA
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Cholesteryl ester storage disease; Cholesterol ester storage disease (ORPHA:75234)
Gene: LIPA
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: WOLMAN DISEASE (OMIM:620151)
Gene: LIPA
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: LYSOSOMAL ACID LIPASE DEFICIENCY (OMIM:278000)
Gene: LIPA
Phenotype: Juvenile onset (HP:0003621)
Associated disease: LYSOSOMAL ACID LIPASE DEFICIENCY (OMIM:278000)
Gene: LIPA
Phenotype: Disseminated intravascular coagulation (HP:0005521)
Associated disease: LYSOSOMAL ACID LIPASE DEFICIENCY (OMIM:278000)
Gene: LIPA
Phenotype: Hepatic foam cells (HP:0034029)
Associated disease: LYSOSOMAL ACID LIPASE DEFICIENCY (OMIM:278000)
Gene: LIPA
Phenotype: Hypersplenism (HP:0001971)
Associated disease: LYSOSOMAL ACID LIPASE DEFICIENCY (OMIM:278000)
Gene: LIPA
Phenotype: Fever (HP:0001945)
Associated disease: Wolman disease (ORPHA:75233)
Gene: LIPA
Phenotype: Fever (HP:0001945)
Associated disease: WOLMAN DISEASE (OMIM:620151)
Gene: LIPA
Phenotype: Anemia (HP:0001903)
Associated disease: Wolman disease (ORPHA:75233)
Gene: LIPA
Phenotype: Anemia (HP:0001903)
Associated disease: LYSOSOMAL ACID LIPASE DEFICIENCY (OMIM:278000)
Gene: LIPA
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: LYSOSOMAL ACID LIPASE DEFICIENCY (OMIM:278000)
Gene: LIPA
Phenotype: Bone-marrow foam cells (HP:0004333)
Associated disease: LYSOSOMAL ACID LIPASE DEFICIENCY (OMIM:278000)
Gene: LIPA
Phenotype: Bone-marrow foam cells (HP:0004333)
Associated disease: Wolman disease (ORPHA:75233)
Gene: LIPA
Phenotype: Cachexia (HP:0004326)
Associated disease: Wolman disease (ORPHA:75233)
Gene: LIPA
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: LYSOSOMAL ACID LIPASE DEFICIENCY (OMIM:278000)
Gene: LIPA
Phenotype: Malnutrition (HP:0004395)
Associated disease: Wolman disease (ORPHA:75233)
Gene: LIPA
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: LYSOSOMAL ACID LIPASE DEFICIENCY (OMIM:278000)
Gene: LIPA
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: Cholesteryl ester storage disease; Cholesterol ester storage disease (ORPHA:75234)
Gene: LIPA
Phenotype: Increased LDL cholesterol concentration (HP:0003141)
Associated disease: LYSOSOMAL ACID LIPASE DEFICIENCY (OMIM:278000)
Gene: LIPA
Phenotype: Hepatic bridging fibrosis (HP:0012852)
Associated disease: LYSOSOMAL ACID LIPASE DEFICIENCY (OMIM:278000)
Gene: LIPA
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: Wolman disease (ORPHA:75233)
Gene: LIPA
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: LYSOSOMAL ACID LIPASE DEFICIENCY (OMIM:278000)
Gene: LIPA
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: LYSOSOMAL ACID LIPASE DEFICIENCY (OMIM:278000)
Gene: LIPA
Phenotype: Abdominal distention (HP:0003270)
Associated disease: WOLMAN DISEASE (OMIM:620151)
Gene: LIPA
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Wolman disease (ORPHA:75233)
Gene: LIPA
Phenotype: Decreased circulating alkaline phosphatase activity (HP:0003282)
Associated disease: LYSOSOMAL ACID LIPASE DEFICIENCY (OMIM:278000)
Gene: LIPA
Phenotype: Pruritus (HP:0000989)
Associated disease: Cholesteryl ester storage disease; Cholesterol ester storage disease (ORPHA:75234)
Gene: LIPA
Phenotype: Jaundice (HP:0000952)
Associated disease: Cholesteryl ester storage disease; Cholesterol ester storage disease (ORPHA:75234)
Gene: LIPA
Phenotype: Death in infancy (HP:0001522)
Associated disease: WOLMAN DISEASE (OMIM:620151)
Gene: LIPA
Phenotype: Death in infancy (HP:0001522)
Associated disease: LYSOSOMAL ACID LIPASE DEFICIENCY (OMIM:278000)
Gene: LIPA
Phenotype: Ascites (HP:0001541)
Associated disease: Wolman disease (ORPHA:75233)
Gene: LIPA
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: LYSOSOMAL ACID LIPASE DEFICIENCY (OMIM:278000)
Gene: LIPA
Phenotype: Failure to thrive (HP:0001508)
Associated disease: WOLMAN DISEASE (OMIM:620151)
Gene: LIPA
Phenotype: Failure to thrive (HP:0001508)
Associated disease: LYSOSOMAL ACID LIPASE DEFICIENCY (OMIM:278000)
Gene: LIPA
Phenotype: Growth delay (HP:0001510)
Associated disease: Wolman disease (ORPHA:75233)
Gene: LIPA
Phenotype: Acute hepatic failure (HP:0006554)
Associated disease: LYSOSOMAL ACID LIPASE DEFICIENCY (OMIM:278000)
Gene: LIPA
Phenotype: Acute hepatic failure (HP:0006554)
Associated disease: WOLMAN DISEASE (OMIM:620151)
Gene: LIPA
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Wolman disease (ORPHA:75233)
Gene: LIPA
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Cholesteryl ester storage disease; Cholesterol ester storage disease (ORPHA:75234)
Gene: LIPA
Phenotype: Splenomegaly (HP:0001744)
Associated disease: WOLMAN DISEASE (OMIM:620151)
Gene: LIPA
Phenotype: Splenomegaly (HP:0001744)
Associated disease: LYSOSOMAL ACID LIPASE DEFICIENCY (OMIM:278000)
Gene: LIPA
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: LYSOSOMAL ACID LIPASE DEFICIENCY (OMIM:278000)
Gene: LIPA
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: LYSOSOMAL ACID LIPASE DEFICIENCY (OMIM:278000)
Gene: LIPC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HEPATIC LIPASE DEFICIENCY (OMIM:614025)
Gene: LIPC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: LIPC
Phenotype: Increased HDL cholesterol concentration (HP:0012184)
Associated disease: HEPATIC LIPASE DEFICIENCY (OMIM:614025)
Gene: LIPC
Phenotype: Increased HDL cholesterol concentration (HP:0012184)
Associated disease: Hyperlipidemia due to hepatic triacylglycerol lipase deficiency; Hyperlipidemia due to HTGL deficiency; Hyperlipidemia due to hepatic triglyceride lipase deficiency; Hyperlipidemia due to HL deficiency; Hyperlipidemia due to hepatic lipase deficiency (ORPHA:140905)
Gene: LIPC
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: LIPC
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: HEPATIC LIPASE DEFICIENCY (OMIM:614025)
Gene: LIPC
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: Hyperlipidemia due to hepatic triacylglycerol lipase deficiency; Hyperlipidemia due to HTGL deficiency; Hyperlipidemia due to hepatic triglyceride lipase deficiency; Hyperlipidemia due to HL deficiency; Hyperlipidemia due to hepatic lipase deficiency (ORPHA:140905)
Gene: LIPC
Phenotype: Late onset (HP:0003584)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: LIPC
Phenotype: Eruptive xanthomas (HP:0001013)
Associated disease: HEPATIC LIPASE DEFICIENCY (OMIM:614025)
Gene: LIPC
Phenotype: Eruptive xanthomas (HP:0001013)
Associated disease: Hyperlipidemia due to hepatic triacylglycerol lipase deficiency; Hyperlipidemia due to HTGL deficiency; Hyperlipidemia due to hepatic triglyceride lipase deficiency; Hyperlipidemia due to HL deficiency; Hyperlipidemia due to hepatic lipase deficiency (ORPHA:140905)
Gene: LIPC
Phenotype: Corneal arcus (HP:0001084)
Associated disease: HEPATIC LIPASE DEFICIENCY (OMIM:614025)
Gene: LIPC
Phenotype: Increased waist to hip ratio (HP:0031819)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: LIPC
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: HEPATIC LIPASE DEFICIENCY (OMIM:614025)
Gene: LIPC
Phenotype: Insulin resistance (HP:0000855)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: LIPC
Phenotype: Premature coronary artery atherosclerosis (HP:0005181)
Associated disease: Hyperlipidemia due to hepatic triacylglycerol lipase deficiency; Hyperlipidemia due to HTGL deficiency; Hyperlipidemia due to hepatic triglyceride lipase deficiency; Hyperlipidemia due to HL deficiency; Hyperlipidemia due to hepatic lipase deficiency (ORPHA:140905)
Gene: LIPC
Phenotype: Angina pectoris (HP:0001681)
Associated disease: HEPATIC LIPASE DEFICIENCY (OMIM:614025)
Gene: LIPC
Phenotype: Angina pectoris (HP:0001681)
Associated disease: Hyperlipidemia due to hepatic triacylglycerol lipase deficiency; Hyperlipidemia due to HTGL deficiency; Hyperlipidemia due to hepatic triglyceride lipase deficiency; Hyperlipidemia due to HL deficiency; Hyperlipidemia due to hepatic lipase deficiency (ORPHA:140905)
Gene: LIPE
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6 (OMIM:615980)
Gene: LIPE
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: FPLD6; LIPE-related FPLD; LIPE-related familial partial lipodystrophy (ORPHA:435660)
Gene: LIPE
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6 (OMIM:615980)
Gene: LIPE
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: FPLD6; LIPE-related FPLD; LIPE-related familial partial lipodystrophy (ORPHA:435660)
Gene: LIPE
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6 (OMIM:615980)
Gene: LIPE
Phenotype: Muscle weakness (HP:0001324)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6 (OMIM:615980)
Gene: LIPE
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6 (OMIM:615980)
Gene: LIPE
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: FPLD6; LIPE-related FPLD; LIPE-related familial partial lipodystrophy (ORPHA:435660)
Gene: LIPE
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: FPLD6; LIPE-related FPLD; LIPE-related familial partial lipodystrophy (ORPHA:435660)
Gene: LIPE
Phenotype: Increased intraabdominal fat (HP:0008993)
Associated disease: FPLD6; LIPE-related FPLD; LIPE-related familial partial lipodystrophy (ORPHA:435660)
Gene: LIPE
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: FPLD6; LIPE-related FPLD; LIPE-related familial partial lipodystrophy (ORPHA:435660)
Gene: LIPE
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: FPLD6; LIPE-related FPLD; LIPE-related familial partial lipodystrophy (ORPHA:435660)
Gene: LIPE
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: FPLD6; LIPE-related FPLD; LIPE-related familial partial lipodystrophy (ORPHA:435660)
Gene: LIPE
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6 (OMIM:615980)
Gene: LIPE
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6 (OMIM:615980)
Gene: LIPE
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6 (OMIM:615980)
Gene: LIPE
Phenotype: Loss of subcutaneous adipose tissue in limbs (HP:0003635)
Associated disease: FPLD6; LIPE-related FPLD; LIPE-related familial partial lipodystrophy (ORPHA:435660)
Gene: LIPE
Phenotype: Loss of gluteal subcutaneous adipose tissue (HP:0009017)
Associated disease: FPLD6; LIPE-related FPLD; LIPE-related familial partial lipodystrophy (ORPHA:435660)
Gene: LIPE
Phenotype: Decreased adiponectin level (HP:0030685)
Associated disease: FPLD6; LIPE-related FPLD; LIPE-related familial partial lipodystrophy (ORPHA:435660)
Gene: LIPE
Phenotype: Hyperlipidemia (HP:0003077)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6 (OMIM:615980)
Gene: LIPE
Phenotype: Abdominal obesity (HP:0012743)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6 (OMIM:615980)
Gene: LIPE
Phenotype: Young adult onset (HP:0011462)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6 (OMIM:615980)
Gene: LIPE
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: FPLD6; LIPE-related FPLD; LIPE-related familial partial lipodystrophy (ORPHA:435660)
Gene: LIPE
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6 (OMIM:615980)
Gene: LIPE
Phenotype: Abnormal circulating lipid concentration (HP:0003119)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6 (OMIM:615980)
Gene: LIPE
Phenotype: Myopathy (HP:0003198)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6 (OMIM:615980)
Gene: LIPE
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: FPLD6; LIPE-related FPLD; LIPE-related familial partial lipodystrophy (ORPHA:435660)
Gene: LIPE
Phenotype: Insulin resistance (HP:0000855)
Associated disease: FPLD6; LIPE-related FPLD; LIPE-related familial partial lipodystrophy (ORPHA:435660)
Gene: LIPE
Phenotype: Insulin resistance (HP:0000855)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6 (OMIM:615980)
Gene: LIPE
Phenotype: Insulin-resistant diabetes mellitus (HP:0000831)
Associated disease: FPLD6; LIPE-related FPLD; LIPE-related familial partial lipodystrophy (ORPHA:435660)
Gene: LIPE
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6 (OMIM:615980)
Gene: LIPE
Phenotype: Hypertension (HP:0000822)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6 (OMIM:615980)
Gene: LIPE
Phenotype: Abnormal labia majora morphology (HP:0012881)
Associated disease: FPLD6; LIPE-related FPLD; LIPE-related familial partial lipodystrophy (ORPHA:435660)
Gene: LIPE
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: FPLD6; LIPE-related FPLD; LIPE-related familial partial lipodystrophy (ORPHA:435660)
Gene: LIPE
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6 (OMIM:615980)
Gene: LIPE
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6 (OMIM:615980)
Gene: LIPE
Phenotype: Decreased serum leptin (HP:0003292)
Associated disease: FPLD6; LIPE-related FPLD; LIPE-related familial partial lipodystrophy (ORPHA:435660)
Gene: LIPE
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: FPLD6; LIPE-related FPLD; LIPE-related familial partial lipodystrophy (ORPHA:435660)
Gene: LIPE
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6 (OMIM:615980)
Gene: LIPE
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6 (OMIM:615980)
Gene: LIPE
Phenotype: Increased adipose tissue around the neck (HP:0000468)
Associated disease: FPLD6; LIPE-related FPLD; LIPE-related familial partial lipodystrophy (ORPHA:435660)
Gene: LIPE
Phenotype: Pes cavus (HP:0001761)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6 (OMIM:615980)
Gene: LMAN1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 (OMIM:227300)
Gene: LMAN1
Phenotype: Prolonged bleeding after dental extraction (HP:0006298)
Associated disease: F5F8D; FV and FVIII combined deficiency; Combined deficiency of factor V and factor VIII (ORPHA:35909)
Gene: LMAN1
Phenotype: Menorrhagia (HP:0000132)
Associated disease: F5F8D; FV and FVIII combined deficiency; Combined deficiency of factor V and factor VIII (ORPHA:35909)
Gene: LMAN1
Phenotype: Prolonged prothrombin time (HP:0008151)
Associated disease: F5F8D; FV and FVIII combined deficiency; Combined deficiency of factor V and factor VIII (ORPHA:35909)
Gene: LMAN1
Phenotype: Hyperuricemia (HP:0002149)
Associated disease: F5F8D; FV and FVIII combined deficiency; Combined deficiency of factor V and factor VIII (ORPHA:35909)
Gene: LMAN1
Phenotype: Intracranial hemorrhage (HP:0002170)
Associated disease: F5F8D; FV and FVIII combined deficiency; Combined deficiency of factor V and factor VIII (ORPHA:35909)
Gene: LMAN1
Phenotype: Bleeding with minor or no trauma (HP:0011889)
Associated disease: F5F8D; FV and FVIII combined deficiency; Combined deficiency of factor V and factor VIII (ORPHA:35909)
Gene: LMAN1
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: F5F8D; FV and FVIII combined deficiency; Combined deficiency of factor V and factor VIII (ORPHA:35909)
Gene: LMAN1
Phenotype: Prolonged bleeding after surgery (HP:0004846)
Associated disease: F5F8D; FV and FVIII combined deficiency; Combined deficiency of factor V and factor VIII (ORPHA:35909)
Gene: LMAN1
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: F5F8D; FV and FVIII combined deficiency; Combined deficiency of factor V and factor VIII (ORPHA:35909)
Gene: LMAN1
Phenotype: Hyperlipidemia (HP:0003077)
Associated disease: F5F8D; FV and FVIII combined deficiency; Combined deficiency of factor V and factor VIII (ORPHA:35909)