TaoMedAI/RareMedData huggingface dataset:
Gene: PSEN2
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: PSMB1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE (OMIM:620038)
Gene: PSMB1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSMB1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSMB1
Phenotype: Motor delay (HP:0001270)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE (OMIM:620038)
Gene: PSMB1
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE (OMIM:620038)
Gene: PSMB1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE (OMIM:620038)
Gene: PSMB1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Inability to walk (HP:0002540)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE (OMIM:620038)
Gene: PSMB1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSMB1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSMB1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSMB1
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE (OMIM:620038)
Gene: PSMB1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE (OMIM:620038)
Gene: PSMB1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSMB1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSMB1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSMB1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSMB1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE (OMIM:620038)
Gene: PSMB1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSMB1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSMB1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSMB1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSMB1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSMB1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSMB1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSMB1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSMB1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSMB1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSMB1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE (OMIM:620038)
Gene: PSMB1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSMB1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSMB1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSMB1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE (OMIM:620038)
Gene: PSMB1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSMB1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSMB1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSMB1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE (OMIM:620038)
Gene: PSMB1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSMB1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSMB1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSMB1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSMB1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSMB1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSMB4
Phenotype: Finger swelling (HP:0025131)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 (OMIM:617591)
Gene: PSMB4
Phenotype: Flexion contracture (HP:0001371)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 (OMIM:617591)
Gene: PSMB4
Phenotype: Arthritis (HP:0001369)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 (OMIM:617591)
Gene: PSMB4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 (OMIM:617591)
Gene: PSMB4
Phenotype: Recurrent infections (HP:0002719)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 (OMIM:617591)
Gene: PSMB4
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 (OMIM:617591)
Gene: PSMB4
Phenotype: Periorbital edema (HP:0100539)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 (OMIM:617591)
Gene: PSMB4
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 (OMIM:617591)
Gene: PSMB4
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 (OMIM:617591)
Gene: PSMB4
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 (OMIM:617591)
Gene: PSMB4
Phenotype: Increased circulating immunoglobulin concentration (HP:0010702)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 (OMIM:617591)
Gene: PSMB4
Phenotype: Myositis (HP:0100614)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 (OMIM:617591)
Gene: PSMB4
Phenotype: Recurrent fever (HP:0001954)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 (OMIM:617591)
Gene: PSMB4
Phenotype: Anemia (HP:0001903)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 (OMIM:617591)
Gene: PSMB4
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 (OMIM:617591)
Gene: PSMB4
Phenotype: Skin rash (HP:0000988)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 (OMIM:617591)
Gene: PSMB4
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 (OMIM:617591)
Gene: PSMB4
Phenotype: Arthralgia (HP:0002829)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 (OMIM:617591)
Gene: PSMB4
Phenotype: Sinusitis (HP:0000246)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 (OMIM:617591)
Gene: PSMB4
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 (OMIM:617591)
Gene: PSMB4
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 (OMIM:617591)
Gene: PSMB4
Phenotype: Panniculitis (HP:0012490)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 (OMIM:617591)
Gene: PSMB4
Phenotype: Splenomegaly (HP:0001744)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 (OMIM:617591)
Gene: PSMB4
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 (OMIM:617591)
Gene: PSMB4
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 (OMIM:617591)
Gene: PSMB4
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 (OMIM:617591)
Gene: PSMB8
Phenotype: Finger swelling (HP:0025131)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Long fingers (HP:0100807)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Seizure (HP:0001250)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Flexion contracture (HP:0001371)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Epididymitis (HP:0000031)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Adipose tissue loss (HP:0008887)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Muscle weakness (HP:0001324)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Bone pain (HP:0002653)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Macroglossia (HP:0000158)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Increased circulating interleukin 8 concentration (HP:0033178)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Episcleritis (HP:0100534)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Impaired glucose tolerance (HP:0040270)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Parotitis (HP:0011850)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Infantile onset (HP:0003593)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Increased circulating immunoglobulin concentration (HP:0010702)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Clubbing of fingers (HP:0100759)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Skin plaque (HP:0200035)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Erythema (HP:0010783)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Recurrent fever (HP:0001954)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Microcytic anemia (HP:0001935)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Short stature (HP:0004322)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Gynecomastia (HP:0000771)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Flexion contracture of finger (HP:0012785)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Childhood onset (HP:0011463)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Death in adolescence (HP:0011421)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Increased circulating interleukin 6 concentration (HP:0030783)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Hypoplastic scapulae (HP:0000882)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Irregular menstruation (HP:0000858)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Increased circulating IgG concentration (HP:0003237)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Flexion contracture of toe (HP:0005830)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Increased circulating IgA concentration (HP:0003261)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Arrhythmia (HP:0011675)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Loss of facial adipose tissue (HP:0000292)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Arthralgia (HP:0002829)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Erythema nodosum (HP:0012219)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Growth abnormality (HP:0001507)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Stiff skin (HP:0030053)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Growth delay (HP:0001510)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Punctate opacification of the cornea (HP:0007856)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Gene: PSMB8
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)