TaoMedAI/RareMedData huggingface dataset:
Gene: IGF2
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Silver-Russell syndrome due to 11p15 microduplication (ORPHA:231144)
Gene: IGF2
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Hemi 3 syndrome; Hemicorporal hypertrophy; Isolated hemihypertrophy; Isolated hemihyperplasia (ORPHA:2128)
Gene: IGF2
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: IGF2
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: SILVER-RUSSELL SYNDROME 1 (OMIM:180860)
Gene: IGF2
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: IGF2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF2
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: IGF2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGF2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF2
Phenotype: Microphallus (HP:0030260)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: IGF2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF2
Phenotype: Protruding ear (HP:0000411)
Associated disease: Silver-Russell syndrome due to an imprinting defect of 11p15 (ORPHA:231140)
Gene: IGF2
Phenotype: Adrenocortical carcinoma (HP:0006744)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: IGF2
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: IGF2
Phenotype: Craniofacial disproportion (HP:0005461)
Associated disease: SILVER-RUSSELL SYNDROME 1 (OMIM:180860)
Gene: IGF2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGF2
Phenotype: Proptosis (HP:0000520)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: IGF2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF2
Phenotype: Hypoplastic fingernail (HP:0001804)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: IGF2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: SILVER-RUSSELL SYNDROME 1 (OMIM:180860)
Gene: IGF2
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Silver-Russell syndrome due to an imprinting defect of 11p15 (ORPHA:231140)
Gene: IGF2
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Silver-Russell syndrome due to 11p15 microduplication (ORPHA:231144)
Gene: IGF2
Phenotype: Prominent forehead (HP:0011220)
Associated disease: SILVER-RUSSELL SYNDROME 3 (OMIM:616489)
Gene: IGF2
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: IGF2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGF2R
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: HEPATOCELLULAR CARCINOMA (OMIM:114550)
Gene: IGF2R
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: HEPATOCELLULAR CARCINOMA (OMIM:114550)
Gene: IGF2R
Phenotype: Micronodular cirrhosis (HP:0001413)
Associated disease: HEPATOCELLULAR CARCINOMA (OMIM:114550)
Gene: IGF2R
Phenotype: Subacute progressive viral hepatitis (HP:0006572)
Associated disease: HEPATOCELLULAR CARCINOMA (OMIM:114550)
Gene: IGFALS
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGFALS
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGFALS
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGFALS
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGFALS
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGFALS
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGFALS
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGFALS
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGFALS
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Short stature due to primary acid-labile subunit deficiency (ORPHA:140941)
Gene: IGFALS
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGFALS
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Insulin insensitivity (HP:0008189)
Associated disease: ACID-LABILE SUBUNIT DEFICIENCY (OMIM:615961)
Gene: IGFALS
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGFALS
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGFALS
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGFALS
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGFALS
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGFALS
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGFALS
Phenotype: Truncal obesity (HP:0001956)
Associated disease: Short stature due to primary acid-labile subunit deficiency (ORPHA:140941)
Gene: IGFALS
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGFALS
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGFALS
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGFALS
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGFALS
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGFALS
Phenotype: Insulin resistance (HP:0000855)
Associated disease: Short stature due to primary acid-labile subunit deficiency (ORPHA:140941)
Gene: IGFALS
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGFALS
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Short stature due to primary acid-labile subunit deficiency (ORPHA:140941)
Gene: IGFALS
Phenotype: Delayed puberty (HP:0000823)
Associated disease: ACID-LABILE SUBUNIT DEFICIENCY (OMIM:615961)
Gene: IGFALS
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGFALS
Phenotype: Reduced insulin like growth factor binding protein acid labile subunit concentration (HP:0045046)
Associated disease: ACID-LABILE SUBUNIT DEFICIENCY (OMIM:615961)
Gene: IGFALS
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Mild postnatal growth retardation (HP:0001530)
Associated disease: ACID-LABILE SUBUNIT DEFICIENCY (OMIM:615961)
Gene: IGFALS
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGFALS
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGFALS
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Growth delay (HP:0001510)
Associated disease: Short stature due to primary acid-labile subunit deficiency (ORPHA:140941)
Gene: IGFALS
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGFALS
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGFALS
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGFALS
Phenotype: Micrognathia (HP:0000347)
Associated disease: Short stature due to primary acid-labile subunit deficiency (ORPHA:140941)
Gene: IGFALS
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGFALS
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGFALS
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Decreased serum insulin-like growth factor 1 (HP:0030353)
Associated disease: Short stature due to primary acid-labile subunit deficiency (ORPHA:140941)
Gene: IGFALS
Phenotype: Decreased serum insulin-like growth factor 1 (HP:0030353)
Associated disease: ACID-LABILE SUBUNIT DEFICIENCY (OMIM:615961)
Gene: IGFALS
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGFALS
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGFBP7
Phenotype: Retinal arterial macroaneurysms (HP:0025355)
Associated disease: RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS (OMIM:614224)
Gene: IGFBP7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS (OMIM:614224)
Gene: IGFBP7
Phenotype: Exudative retinal detachment (HP:0012231)
Associated disease: RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS (OMIM:614224)
Gene: IGFBP7
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS (OMIM:614224)
Gene: IGH
Phenotype: Meningitis (HP:0001287)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: IGH
Phenotype: Abnormal peritoneum morphology (HP:0002585)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: IGH
Phenotype: Mediastinal mass (HP:0033823)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: IGH
Phenotype: Lymphoma (HP:0002665)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: IGH
Phenotype: B-cell lymphoma (HP:0012191)
Associated disease: MCL; Mantle zone lymphoma; Mantle cell lymphoma; LCM (ORPHA:52416)
Gene: IGH
Phenotype: B-cell lymphoma (HP:0012191)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: IGH
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: IGH
Phenotype: Posterior uveitis (HP:0012123)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: IGH
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: MCL; Mantle zone lymphoma; Mantle cell lymphoma; LCM (ORPHA:52416)
Gene: IGH
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: IGH
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: IGH
Phenotype: Constipation (HP:0002019)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: IGH
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: IGH
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: IGH
Phenotype: Anorexia (HP:0002039)
Associated disease: MCL; Mantle zone lymphoma; Mantle cell lymphoma; LCM (ORPHA:52416)
Gene: IGH
Phenotype: Pulmonary infiltrates (HP:0002113)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: IGH
Phenotype: Pleural effusion (HP:0002202)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: IGH
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: IGH
Phenotype: Mediastinal lymphadenopathy (HP:0100721)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: IGH
Phenotype: Mediastinal lymphadenopathy (HP:0100721)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: IGH
Phenotype: Lymphedema (HP:0001004)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: IGH
Phenotype: Skin nodule (HP:0200036)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: IGH
Phenotype: Abnormal bone marrow cell morphology (HP:0005561)
Associated disease: MCL; Mantle zone lymphoma; Mantle cell lymphoma; LCM (ORPHA:52416)
Gene: IGH
Phenotype: Abnormal nasolacrimal system morphology (HP:0000614)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: IGH
Phenotype: Fever (HP:0001945)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: IGH
Phenotype: Fever (HP:0001945)
Associated disease: MCL; Mantle zone lymphoma; Mantle cell lymphoma; LCM (ORPHA:52416)
Gene: IGH
Phenotype: Fever (HP:0001945)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: IGH
Phenotype: Anemia (HP:0001903)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: IGH
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: IGH
Phenotype: Abnormality of the thyroid gland (HP:0000820)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: IGH
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: IGH
Phenotype: Ascites (HP:0001541)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: IGH
Phenotype: Fatigue (HP:0012378)
Associated disease: MCL; Mantle zone lymphoma; Mantle cell lymphoma; LCM (ORPHA:52416)
Gene: IGH
Phenotype: Fatigue (HP:0012378)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: IGH
Phenotype: Fatigue (HP:0012378)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: IGH
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: MCL; Mantle zone lymphoma; Mantle cell lymphoma; LCM (ORPHA:52416)
Gene: IGH
Phenotype: Night sweats (HP:0030166)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: IGH
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: IGH
Phenotype: Splenomegaly (HP:0001744)
Associated disease: MCL; Mantle zone lymphoma; Mantle cell lymphoma; LCM (ORPHA:52416)
Gene: IGH
Phenotype: Weight loss (HP:0001824)
Associated disease: MCL; Mantle zone lymphoma; Mantle cell lymphoma; LCM (ORPHA:52416)
Gene: IGH
Phenotype: Weight loss (HP:0001824)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: IGH
Phenotype: Weight loss (HP:0001824)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: IGH
Phenotype: Visual impairment (HP:0000505)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: IGHG1
Phenotype: Anti-La/SS-B antibody positivity (HP:0032235)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IGHG1
Phenotype: Anti-nucleoporin 62 antibody positivity (HP:0033556)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IGHG1
Phenotype: Cheilitis (HP:0100825)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IGHG1
Phenotype: Seizure (HP:0001250)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IGHG1
Phenotype: Discoid lupus rash (HP:0007417)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IGHG1
Phenotype: Proteinuria (HP:0000093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)