TaoMedAI/RareMedData huggingface dataset:
Gene: LBR
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Fetal onset (HP:0011461)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Hyposegmentation of neutrophil nuclei (HP:0011447)
Associated disease: PELGER-HUET ANOMALY (OMIM:169400)
Gene: LBR
Phenotype: Hyposegmentation of neutrophil nuclei (HP:0011447)
Associated disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Gene: LBR
Phenotype: Abnormal scapula morphology (HP:0000782)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Narrow chest (HP:0000774)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Narrow chest (HP:0000774)
Associated disease: HEM dysplasia; Greenberg dysplasia; Hydrops-ectopic calcification-motheaten syndrome; Skeletal dysplasia, Greenberg type (ORPHA:1426)
Gene: LBR
Phenotype: Short ribs (HP:0000773)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Lethal skeletal dysplasia (HP:0005716)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Platyspondyly (HP:0000926)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Platyspondyly (HP:0000926)
Associated disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Gene: LBR
Phenotype: Platyspondyly (HP:0000926)
Associated disease: HEM dysplasia; Greenberg dysplasia; Hydrops-ectopic calcification-motheaten syndrome; Skeletal dysplasia, Greenberg type (ORPHA:1426)
Gene: LBR
Phenotype: Inverted nipples (HP:0003186)
Associated disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Gene: LBR
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: REYNOLDS SYNDROME (OMIM:613471)
Gene: LBR
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Gene: LBR
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LBR
Phenotype: Tetraphocomelia (HP:0030721)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: 11 pairs of ribs (HP:0000878)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Long clavicles (HP:0000890)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Horizontal ribs (HP:0000888)
Associated disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Gene: LBR
Phenotype: Scleroderma (HP:0100324)
Associated disease: REYNOLDS SYNDROME (OMIM:613471)
Gene: LBR
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LBR
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Anti-centromere antibody positivity (HP:0030873)
Associated disease: REYNOLDS SYNDROME (OMIM:613471)
Gene: LBR
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: REYNOLDS SYNDROME (OMIM:613471)
Gene: LBR
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LBR
Phenotype: Multiple prenatal fractures (HP:0005855)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Pancreatic islet-cell hyperplasia (HP:0004510)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Absent or minimally ossified vertebral bodies (HP:0004599)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Supernumerary vertebral ossification centers (HP:0004598)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Thoracic platyspondyly (HP:0004592)
Associated disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Gene: LBR
Phenotype: Metaphyseal dysplasia (HP:0100255)
Associated disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Gene: LBR
Phenotype: Pruritus (HP:0000989)
Associated disease: Reynolds syndrome; Primary biliary cirrhosis and systemic scleroderma (ORPHA:779)
Gene: LBR
Phenotype: Pruritus (HP:0000989)
Associated disease: REYNOLDS SYNDROME (OMIM:613471)
Gene: LBR
Phenotype: Skin rash (HP:0000988)
Associated disease: Reynolds syndrome; Primary biliary cirrhosis and systemic scleroderma (ORPHA:779)
Gene: LBR
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Jaundice (HP:0000952)
Associated disease: Reynolds syndrome; Primary biliary cirrhosis and systemic scleroderma (ORPHA:779)
Gene: LBR
Phenotype: Jaundice (HP:0000952)
Associated disease: REYNOLDS SYNDROME (OMIM:613471)
Gene: LBR
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: PELGER-HUET ANOMALY (OMIM:169400)
Gene: LBR
Phenotype: Absent distal phalanges (HP:0005807)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Short finger (HP:0009381)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Retrognathia (HP:0000278)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Macrocephaly (HP:0000256)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Macrocephaly (HP:0000256)
Associated disease: PELGER-HUET ANOMALY (OMIM:169400)
Gene: LBR
Phenotype: Arthralgia (HP:0002829)
Associated disease: REYNOLDS SYNDROME (OMIM:613471)
Gene: LBR
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Kyphosis (HP:0002808)
Associated disease: PELGER-HUET ANOMALY (OMIM:169400)
Gene: LBR
Phenotype: Kyphosis (HP:0002808)
Associated disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Gene: LBR
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Gene: LBR
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Erythema nodosum (HP:0012219)
Associated disease: REYNOLDS SYNDROME (OMIM:613471)
Gene: LBR
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Calcinosis cutis (HP:0025520)
Associated disease: REYNOLDS SYNDROME (OMIM:613471)
Gene: LBR
Phenotype: Xerostomia (HP:0000217)
Associated disease: Reynolds syndrome; Primary biliary cirrhosis and systemic scleroderma (ORPHA:779)
Gene: LBR
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: PELGER-HUET ANOMALY (OMIM:169400)
Gene: LBR
Phenotype: Lip telangiectasia (HP:0000214)
Associated disease: REYNOLDS SYNDROME (OMIM:613471)
Gene: LBR
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LBR
Phenotype: Genu valgum (HP:0002857)
Associated disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Gene: LBR
Phenotype: Ascites (HP:0001541)
Associated disease: Reynolds syndrome; Primary biliary cirrhosis and systemic scleroderma (ORPHA:779)
Gene: LBR
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: PELGER-HUET ANOMALY (OMIM:169400)
Gene: LBR
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Gene: LBR
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LBR
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PELGER-HUET ANOMALY (OMIM:169400)
Gene: LBR
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LBR
Phenotype: Fatigue (HP:0012378)
Associated disease: Reynolds syndrome; Primary biliary cirrhosis and systemic scleroderma (ORPHA:779)
Gene: LBR
Phenotype: Camptodactyly (HP:0012385)
Associated disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Gene: LBR
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Thoracic hypoplasia (HP:0005257)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Thoracic hypoplasia (HP:0005257)
Associated disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Gene: LBR
Phenotype: Hepatic calcification (HP:0006559)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Thoracolumbar scoliosis (HP:0002944)
Associated disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Gene: LBR
Phenotype: Abnormality of chromosome segregation (HP:0002916)
Associated disease: PELGER-HUET ANOMALY (OMIM:169400)
Gene: LBR
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: REYNOLDS SYNDROME (OMIM:613471)
Gene: LBR
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: REYNOLDS SYNDROME (OMIM:613471)
Gene: LBR
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LBR
Phenotype: Low-set ears (HP:0000369)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LBR
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: High forehead (HP:0000348)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Micrognathia (HP:0000347)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Micrognathia (HP:0000347)
Associated disease: HEM dysplasia; Greenberg dysplasia; Hydrops-ectopic calcification-motheaten syndrome; Skeletal dysplasia, Greenberg type (ORPHA:1426)
Gene: LBR
Phenotype: Micromelia (HP:0002983)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Micromelia (HP:0002983)
Associated disease: HEM dysplasia; Greenberg dysplasia; Hydrops-ectopic calcification-motheaten syndrome; Skeletal dysplasia, Greenberg type (ORPHA:1426)
Gene: LBR
Phenotype: Femoral bowing (HP:0002980)
Associated disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Gene: LBR
Phenotype: Hypertelorism (HP:0000316)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Hypertelorism (HP:0000316)
Associated disease: PELGER-HUET ANOMALY (OMIM:169400)
Gene: LBR
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Radial bowing (HP:0002986)
Associated disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Gene: LBR
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: PELGER-HUET ANOMALY (OMIM:169400)
Gene: LBR
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Antimitochondrial antibody positivity (HP:0030167)
Associated disease: REYNOLDS SYNDROME (OMIM:613471)
Gene: LBR
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LBR
Phenotype: Anterior rib punctate calcifications (HP:0006619)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Anterior rib punctate calcifications (HP:0006619)
Associated disease: HEM dysplasia; Greenberg dysplasia; Hydrops-ectopic calcification-motheaten syndrome; Skeletal dysplasia, Greenberg type (ORPHA:1426)
Gene: LBR
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Gene: LBR
Phenotype: Sternal punctate calcifications (HP:0006637)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Multiple rib fractures (HP:0006640)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Costal cartilage calcification (HP:0006646)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: PELGER-HUET ANOMALY (OMIM:169400)
Gene: LBR
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: PELGER-HUET ANOMALY (OMIM:169400)
Gene: LBR
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Gene: LBR
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Strabismus (HP:0000486)
Associated disease: PELGER-HUET ANOMALY (OMIM:169400)
Gene: LBR
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Late young adult onset (HP:0025710)
Associated disease: REYNOLDS SYNDROME (OMIM:613471)
Gene: LBR
Phenotype: Splenomegaly (HP:0001744)
Associated disease: REYNOLDS SYNDROME (OMIM:613471)
Gene: LBR
Phenotype: Pes cavus (HP:0001761)
Associated disease: PELGER-HUET ANOMALY (OMIM:169400)
Gene: LBR
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LBR
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Prominent forehead (HP:0011220)
Associated disease: PELGER-HUET ANOMALY (OMIM:169400)
Gene: LBR
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: REYNOLDS SYNDROME (OMIM:613471)
Gene: LBR
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Abnormal leukocyte morphology (HP:0001881)
Associated disease: HEM dysplasia; Greenberg dysplasia; Hydrops-ectopic calcification-motheaten syndrome; Skeletal dysplasia, Greenberg type (ORPHA:1426)
Gene: LBR
Phenotype: Talipes (HP:0001883)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LBR
Phenotype: Abnormality of neutrophils (HP:0001874)
Associated disease: PELGER-HUET ANOMALY (OMIM:169400)
Gene: LBR
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: PELGER-HUET ANOMALY (OMIM:169400)
Gene: LBR
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: PELGER-HUET ANOMALY (OMIM:169400)
Gene: LCAT
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY (OMIM:245900)
Gene: LCAT
Phenotype: Proteinuria (HP:0000093)
Associated disease: LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY (OMIM:245900)
Gene: LCAT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY (OMIM:245900)
Gene: LCAT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FISH-EYE DISEASE (OMIM:136120)
Gene: LCAT
Phenotype: Atherosclerosis (HP:0002621)
Associated disease: Partial LCAT deficiency; FED; Fish-eye disease (ORPHA:79292)
Gene: LCAT
Phenotype: Decreased lecithin cholesterol acyl transferase level (HP:0025433)
Associated disease: LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY (OMIM:245900)
Gene: LCAT
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Partial LCAT deficiency; FED; Fish-eye disease (ORPHA:79292)
Gene: LCAT
Phenotype: Increased VLDL cholesterol concentration (HP:0003362)
Associated disease: FISH-EYE DISEASE (OMIM:136120)
Gene: LCAT
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY (OMIM:245900)
Gene: LCAT
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: FISH-EYE DISEASE (OMIM:136120)
Gene: LCAT
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Partial LCAT deficiency; FED; Fish-eye disease (ORPHA:79292)
Gene: LCAT
Phenotype: Adult onset (HP:0003581)
Associated disease: LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY (OMIM:245900)
Gene: LCAT
Phenotype: Foam cells (HP:0003651)
Associated disease: LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY (OMIM:245900)
Gene: LCAT
Phenotype: Corneal arcus (HP:0001084)
Associated disease: LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY (OMIM:245900)
Gene: LCAT
Phenotype: Increased LDL cholesterol concentration (HP:0003141)
Associated disease: FISH-EYE DISEASE (OMIM:136120)
Gene: LCAT
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY (OMIM:245900)
Gene: LCAT
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: FISH-EYE DISEASE (OMIM:136120)
Gene: LCAT
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: Partial LCAT deficiency; FED; Fish-eye disease (ORPHA:79292)
Gene: LCAT
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: FISH-EYE DISEASE (OMIM:136120)
Gene: LCAT
Phenotype: Angina pectoris (HP:0001681)
Associated disease: Partial LCAT deficiency; FED; Fish-eye disease (ORPHA:79292)
Gene: LCAT
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Partial LCAT deficiency; FED; Fish-eye disease (ORPHA:79292)
Gene: LCAT
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Partial LCAT deficiency; FED; Fish-eye disease (ORPHA:79292)
Gene: LCAT
Phenotype: Visual impairment (HP:0000505)
Associated disease: Partial LCAT deficiency; FED; Fish-eye disease (ORPHA:79292)
Gene: LCAT
Phenotype: Normochromic anemia (HP:0001895)
Associated disease: LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY (OMIM:245900)
Gene: LCAT
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY (OMIM:245900)
Gene: LCK
Phenotype: Retinal vasculitis (HP:0025188)
Associated disease: IMMUNODEFICIENCY 22 (OMIM:615758)
Gene: LCK
Phenotype: Decreased proportion of CD4-positive T cells (HP:0032218)
Associated disease: IMMUNODEFICIENCY 22 (OMIM:615758)
Gene: LCK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 22 (OMIM:615758)
Gene: LCK
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: IMMUNODEFICIENCY 22 (OMIM:615758)
Gene: LCK
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: IMMUNODEFICIENCY 22 (OMIM:615758)
Gene: LCK
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: IMMUNODEFICIENCY 22 (OMIM:615758)
Gene: LCK
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY 22 (OMIM:615758)
Gene: LCK
Phenotype: Diarrhea (HP:0002014)
Associated disease: IMMUNODEFICIENCY 22 (OMIM:615758)
Gene: LCK
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 22 (OMIM:615758)
Gene: LCK
Phenotype: Chronic oral candidiasis (HP:0009098)
Associated disease: IMMUNODEFICIENCY 22 (OMIM:615758)
Gene: LCK
Phenotype: Fever (HP:0001945)
Associated disease: IMMUNODEFICIENCY 22 (OMIM:615758)
Gene: LCK
Phenotype: Anemia (HP:0001903)
Associated disease: IMMUNODEFICIENCY 22 (OMIM:615758)
Gene: LCK
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: IMMUNODEFICIENCY 22 (OMIM:615758)
Gene: LCK
Phenotype: Protracted diarrhea (HP:0004385)
Associated disease: IMMUNODEFICIENCY 22 (OMIM:615758)
Gene: LCK
Phenotype: Childhood onset (HP:0011463)
Associated disease: IMMUNODEFICIENCY 22 (OMIM:615758)
Gene: LCK
Phenotype: Capillary leak (HP:0030005)
Associated disease: IMMUNODEFICIENCY 22 (OMIM:615758)
Gene: LCK
Phenotype: Ascites (HP:0001541)
Associated disease: IMMUNODEFICIENCY 22 (OMIM:615758)
Gene: LCK
Phenotype: Failure to thrive (HP:0001508)
Associated disease: IMMUNODEFICIENCY 22 (OMIM:615758)
Gene: LCK
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: IMMUNODEFICIENCY 22 (OMIM:615758)
Gene: LCK
Phenotype: Abscess (HP:0025615)
Associated disease: IMMUNODEFICIENCY 22 (OMIM:615758)
Gene: LCK
Phenotype: Autoimmunity (HP:0002960)
Associated disease: IMMUNODEFICIENCY 22 (OMIM:615758)
Gene: LCK
Phenotype: Panniculitis (HP:0012490)
Associated disease: IMMUNODEFICIENCY 22 (OMIM:615758)
Gene: LCK
Phenotype: Pericarditis (HP:0001701)
Associated disease: IMMUNODEFICIENCY 22 (OMIM:615758)
Gene: LCK
Phenotype: Decreased circulating IgE concentration (HP:0005479)
Associated disease: IMMUNODEFICIENCY 22 (OMIM:615758)
Gene: LCK
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: IMMUNODEFICIENCY 22 (OMIM:615758)
Gene: LCP2
Phenotype: Decreased proportion of CD4-positive T cells (HP:0032218)
Associated disease: IMMUNODEFICIENCY 81 (OMIM:619374)
Gene: LCP2
Phenotype: Recurrent cutaneous abscess formation (HP:0100838)
Associated disease: IMMUNODEFICIENCY 81 (OMIM:619374)
Gene: LCP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 81 (OMIM:619374)
Gene: LCP2
Phenotype: Abnormal natural killer cell physiology (HP:0012177)
Associated disease: IMMUNODEFICIENCY 81 (OMIM:619374)
Gene: LCP2
Phenotype: Recurrent infections (HP:0002719)
Associated disease: IMMUNODEFICIENCY 81 (OMIM:619374)
Gene: LCP2
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY 81 (OMIM:619374)
Gene: LCP2
Phenotype: Impaired collagen-induced platelet aggregation (HP:0008320)
Associated disease: IMMUNODEFICIENCY 81 (OMIM:619374)
Gene: LCP2
Phenotype: Decreased neutrophil oxidative burst (HP:0003203)
Associated disease: IMMUNODEFICIENCY 81 (OMIM:619374)
Gene: LCP2
Phenotype: Impaired neutrophil chemotaxis (HP:0040238)
Associated disease: IMMUNODEFICIENCY 81 (OMIM:619374)
Gene: LCP2
Phenotype: Skin rash (HP:0000988)
Associated disease: IMMUNODEFICIENCY 81 (OMIM:619374)
Gene: LCP2
Phenotype: Petechiae (HP:0000967)
Associated disease: IMMUNODEFICIENCY 81 (OMIM:619374)
Gene: LCP2
Phenotype: Reduced antigen-specific T cell proliferation (HP:0031402)
Associated disease: IMMUNODEFICIENCY 81 (OMIM:619374)
Gene: LCP2
Phenotype: Abscess (HP:0025615)
Associated disease: IMMUNODEFICIENCY 81 (OMIM:619374)
Gene: LCP2
Phenotype: Abnormally low T cell receptor excision circle level (HP:0031545)
Associated disease: IMMUNODEFICIENCY 81 (OMIM:619374)