TaoMedAI/RareMedData huggingface dataset:
Gene: NLRP3
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Deep dermal perivascular inflammatory infiltrate (HP:0031191)
Associated disease: MUCKLE-WELLS SYNDROME (OMIM:191900)
Gene: NLRP3
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NLRP3
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION (OMIM:617772)
Gene: NLRP3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 (OMIM:120100)
Gene: NLRP3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MUCKLE-WELLS SYNDROME (OMIM:191900)
Gene: NLRP3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: KERATOENDOTHELIITIS FUGAX HEREDITARIA (OMIM:148200)
Gene: NLRP3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NLRP3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CINCA SYNDROME (OMIM:607115)
Gene: NLRP3
Phenotype: Vasculitis (HP:0002633)
Associated disease: MUCKLE-WELLS SYNDROME (OMIM:191900)
Gene: NLRP3
Phenotype: Vasculitis (HP:0002633)
Associated disease: Muckle-Wells syndrome; Neutrophilic urticaria (ORPHA:575)
Gene: NLRP3
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Prieur-Griscelli syndrome; NOMID syndrome; Neonatal-onset multisystem inflammatory disease; Chronic infantile neurological cutaneous and articular syndrome; CINCA syndrome; IOMID syndrome; Infantile-onset multisystem inflammatory disease (ORPHA:1451)
Gene: NLRP3
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NLRP3
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NLRP3
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Abnormal palate morphology (HP:0000174)
Associated disease: Muckle-Wells syndrome; Neutrophilic urticaria (ORPHA:575)
Gene: NLRP3
Phenotype: Delayed closure of the anterior fontanelle (HP:0001476)
Associated disease: Prieur-Griscelli syndrome; NOMID syndrome; Neonatal-onset multisystem inflammatory disease; Chronic infantile neurological cutaneous and articular syndrome; CINCA syndrome; IOMID syndrome; Infantile-onset multisystem inflammatory disease (ORPHA:1451)
Gene: NLRP3
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: Muckle-Wells syndrome; Neutrophilic urticaria (ORPHA:575)
Gene: NLRP3
Phenotype: Nephropathy (HP:0000112)
Associated disease: Muckle-Wells syndrome; Neutrophilic urticaria (ORPHA:575)
Gene: NLRP3
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: CINCA SYNDROME (OMIM:607115)
Gene: NLRP3
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION (OMIM:617772)
Gene: NLRP3
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: CINCA SYNDROME (OMIM:607115)
Gene: NLRP3
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Prieur-Griscelli syndrome; NOMID syndrome; Neonatal-onset multisystem inflammatory disease; Chronic infantile neurological cutaneous and articular syndrome; CINCA syndrome; IOMID syndrome; Infantile-onset multisystem inflammatory disease (ORPHA:1451)
Gene: NLRP3
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Familial cold urticaria; Familial cold autoinflammatory syndrome; FCU; FCAS (ORPHA:47045)
Gene: NLRP3
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Prieur-Griscelli syndrome; NOMID syndrome; Neonatal-onset multisystem inflammatory disease; Chronic infantile neurological cutaneous and articular syndrome; CINCA syndrome; IOMID syndrome; Infantile-onset multisystem inflammatory disease (ORPHA:1451)
Gene: NLRP3
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Familial cold urticaria; Familial cold autoinflammatory syndrome; FCU; FCAS (ORPHA:47045)
Gene: NLRP3
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Muckle-Wells syndrome; Neutrophilic urticaria (ORPHA:575)
Gene: NLRP3
Phenotype: Myalgia (HP:0003326)
Associated disease: Familial cold urticaria; Familial cold autoinflammatory syndrome; FCU; FCAS (ORPHA:47045)
Gene: NLRP3
Phenotype: Myalgia (HP:0003326)
Associated disease: MUCKLE-WELLS SYNDROME (OMIM:191900)
Gene: NLRP3
Phenotype: Myalgia (HP:0003326)
Associated disease: Muckle-Wells syndrome; Neutrophilic urticaria (ORPHA:575)
Gene: NLRP3
Phenotype: Myalgia (HP:0003326)
Associated disease: Prieur-Griscelli syndrome; NOMID syndrome; Neonatal-onset multisystem inflammatory disease; Chronic infantile neurological cutaneous and articular syndrome; CINCA syndrome; IOMID syndrome; Infantile-onset multisystem inflammatory disease (ORPHA:1451)
Gene: NLRP3
Phenotype: Myalgia (HP:0003326)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 (OMIM:120100)
Gene: NLRP3
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CINCA SYNDROME (OMIM:607115)
Gene: NLRP3
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Prieur-Griscelli syndrome; NOMID syndrome; Neonatal-onset multisystem inflammatory disease; Chronic infantile neurological cutaneous and articular syndrome; CINCA syndrome; IOMID syndrome; Infantile-onset multisystem inflammatory disease (ORPHA:1451)
Gene: NLRP3
Phenotype: Episcleritis (HP:0100534)
Associated disease: Muckle-Wells syndrome; Neutrophilic urticaria (ORPHA:575)
Gene: NLRP3
Phenotype: Inflammatory abnormality of the eye (HP:0100533)
Associated disease: Prieur-Griscelli syndrome; NOMID syndrome; Neonatal-onset multisystem inflammatory disease; Chronic infantile neurological cutaneous and articular syndrome; CINCA syndrome; IOMID syndrome; Infantile-onset multisystem inflammatory disease (ORPHA:1451)
Gene: NLRP3
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: Muckle-Wells syndrome; Neutrophilic urticaria (ORPHA:575)
Gene: NLRP3
Phenotype: Migraine (HP:0002076)
Associated disease: Prieur-Griscelli syndrome; NOMID syndrome; Neonatal-onset multisystem inflammatory disease; Chronic infantile neurological cutaneous and articular syndrome; CINCA syndrome; IOMID syndrome; Infantile-onset multisystem inflammatory disease (ORPHA:1451)
Gene: NLRP3
Phenotype: Conjunctival hyperemia (HP:0030953)
Associated disease: MUCKLE-WELLS SYNDROME (OMIM:191900)
Gene: NLRP3
Phenotype: Conjunctival hyperemia (HP:0030953)
Associated disease: KERATOENDOTHELIITIS FUGAX HEREDITARIA (OMIM:148200)
Gene: NLRP3
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NLRP3
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Muckle-Wells syndrome; Neutrophilic urticaria (ORPHA:575)
Gene: NLRP3
Phenotype: Infantile onset (HP:0003593)
Associated disease: MUCKLE-WELLS SYNDROME (OMIM:191900)
Gene: NLRP3
Phenotype: Infantile onset (HP:0003593)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 (OMIM:120100)
Gene: NLRP3
Phenotype: Infantile onset (HP:0003593)
Associated disease: CINCA SYNDROME (OMIM:607115)
Gene: NLRP3
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Muckle-Wells syndrome; Neutrophilic urticaria (ORPHA:575)
Gene: NLRP3
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Prieur-Griscelli syndrome; NOMID syndrome; Neonatal-onset multisystem inflammatory disease; Chronic infantile neurological cutaneous and articular syndrome; CINCA syndrome; IOMID syndrome; Infantile-onset multisystem inflammatory disease (ORPHA:1451)
Gene: NLRP3
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: Muckle-Wells syndrome; Neutrophilic urticaria (ORPHA:575)
Gene: NLRP3
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: Prieur-Griscelli syndrome; NOMID syndrome; Neonatal-onset multisystem inflammatory disease; Chronic infantile neurological cutaneous and articular syndrome; CINCA syndrome; IOMID syndrome; Infantile-onset multisystem inflammatory disease (ORPHA:1451)
Gene: NLRP3
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: MUCKLE-WELLS SYNDROME (OMIM:191900)
Gene: NLRP3
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: CINCA SYNDROME (OMIM:607115)
Gene: NLRP3
Phenotype: Clubbing of fingers (HP:0100759)
Associated disease: MUCKLE-WELLS SYNDROME (OMIM:191900)
Gene: NLRP3
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Patellar overgrowth (HP:0033308)
Associated disease: CINCA SYNDROME (OMIM:607115)
Gene: NLRP3
Phenotype: Lymphedema (HP:0001004)
Associated disease: CINCA SYNDROME (OMIM:607115)
Gene: NLRP3
Phenotype: Urticaria (HP:0001025)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION (OMIM:617772)
Gene: NLRP3
Phenotype: Urticaria (HP:0001025)
Associated disease: MUCKLE-WELLS SYNDROME (OMIM:191900)
Gene: NLRP3
Phenotype: Urticaria (HP:0001025)
Associated disease: Muckle-Wells syndrome; Neutrophilic urticaria (ORPHA:575)
Gene: NLRP3
Phenotype: Urticaria (HP:0001025)
Associated disease: Familial cold urticaria; Familial cold autoinflammatory syndrome; FCU; FCAS (ORPHA:47045)
Gene: NLRP3
Phenotype: Urticaria (HP:0001025)
Associated disease: Prieur-Griscelli syndrome; NOMID syndrome; Neonatal-onset multisystem inflammatory disease; Chronic infantile neurological cutaneous and articular syndrome; CINCA syndrome; IOMID syndrome; Infantile-onset multisystem inflammatory disease (ORPHA:1451)
Gene: NLRP3
Phenotype: Urticaria (HP:0001025)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 (OMIM:120100)
Gene: NLRP3
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Prieur-Griscelli syndrome; NOMID syndrome; Neonatal-onset multisystem inflammatory disease; Chronic infantile neurological cutaneous and articular syndrome; CINCA syndrome; IOMID syndrome; Infantile-onset multisystem inflammatory disease (ORPHA:1451)
Gene: NLRP3
Phenotype: Slowly progressive (HP:0003677)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION (OMIM:617772)
Gene: NLRP3
Phenotype: Headache (HP:0002315)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION (OMIM:617772)
Gene: NLRP3
Phenotype: Headache (HP:0002315)
Associated disease: Familial cold urticaria; Familial cold autoinflammatory syndrome; FCU; FCAS (ORPHA:47045)
Gene: NLRP3
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NLRP3
Phenotype: Headache (HP:0002315)
Associated disease: MUCKLE-WELLS SYNDROME (OMIM:191900)
Gene: NLRP3
Phenotype: Headache (HP:0002315)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 (OMIM:120100)
Gene: NLRP3
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Retrobulbar optic neuritis (HP:0100654)
Associated disease: Prieur-Griscelli syndrome; NOMID syndrome; Neonatal-onset multisystem inflammatory disease; Chronic infantile neurological cutaneous and articular syndrome; CINCA syndrome; IOMID syndrome; Infantile-onset multisystem inflammatory disease (ORPHA:1451)
Gene: NLRP3
Phenotype: Papule (HP:0200034)
Associated disease: Prieur-Griscelli syndrome; NOMID syndrome; Neonatal-onset multisystem inflammatory disease; Chronic infantile neurological cutaneous and articular syndrome; CINCA syndrome; IOMID syndrome; Infantile-onset multisystem inflammatory disease (ORPHA:1451)
Gene: NLRP3
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Papilledema (HP:0001085)
Associated disease: MUCKLE-WELLS SYNDROME (OMIM:191900)
Gene: NLRP3
Phenotype: Papilledema (HP:0001085)
Associated disease: CINCA SYNDROME (OMIM:607115)
Gene: NLRP3
Phenotype: Erythema (HP:0010783)
Associated disease: Familial cold urticaria; Familial cold autoinflammatory syndrome; FCU; FCAS (ORPHA:47045)
Gene: NLRP3
Phenotype: Aphthous ulcer (HP:0032154)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 (OMIM:120100)
Gene: NLRP3
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NLRP3
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CINCA SYNDROME (OMIM:607115)
Gene: NLRP3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MUCKLE-WELLS SYNDROME (OMIM:191900)
Gene: NLRP3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: KERATOENDOTHELIITIS FUGAX HEREDITARIA (OMIM:148200)
Gene: NLRP3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NLRP3
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NLRP3
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Muckle-Wells syndrome; Neutrophilic urticaria (ORPHA:575)
Gene: NLRP3
Phenotype: Hernia of the abdominal wall (HP:0004299)
Associated disease: Muckle-Wells syndrome; Neutrophilic urticaria (ORPHA:575)
Gene: NLRP3
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NLRP3
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NLRP3
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Muckle-Wells syndrome; Neutrophilic urticaria (ORPHA:575)
Gene: NLRP3
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: Prieur-Griscelli syndrome; NOMID syndrome; Neonatal-onset multisystem inflammatory disease; Chronic infantile neurological cutaneous and articular syndrome; CINCA syndrome; IOMID syndrome; Infantile-onset multisystem inflammatory disease (ORPHA:1451)
Gene: NLRP3
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: MUCKLE-WELLS SYNDROME (OMIM:191900)
Gene: NLRP3
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: CINCA SYNDROME (OMIM:607115)
Gene: NLRP3
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 (OMIM:120100)
Gene: NLRP3
Phenotype: Blindness (HP:0000618)
Associated disease: Prieur-Griscelli syndrome; NOMID syndrome; Neonatal-onset multisystem inflammatory disease; Chronic infantile neurological cutaneous and articular syndrome; CINCA syndrome; IOMID syndrome; Infantile-onset multisystem inflammatory disease (ORPHA:1451)
Gene: NLRP3
Phenotype: Photophobia (HP:0000613)
Associated disease: KERATOENDOTHELIITIS FUGAX HEREDITARIA (OMIM:148200)
Gene: NLRP3
Phenotype: Dehydration (HP:0001944)
Associated disease: Familial cold urticaria; Familial cold autoinflammatory syndrome; FCU; FCAS (ORPHA:47045)
Gene: NLRP3
Phenotype: Fever (HP:0001945)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION (OMIM:617772)
Gene: NLRP3
Phenotype: Fever (HP:0001945)
Associated disease: Muckle-Wells syndrome; Neutrophilic urticaria (ORPHA:575)
Gene: NLRP3
Phenotype: Fever (HP:0001945)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 (OMIM:120100)
Gene: NLRP3
Phenotype: Fever (HP:0001945)
Associated disease: Familial cold urticaria; Familial cold autoinflammatory syndrome; FCU; FCAS (ORPHA:47045)
Gene: NLRP3
Phenotype: Fever (HP:0001945)
Associated disease: Prieur-Griscelli syndrome; NOMID syndrome; Neonatal-onset multisystem inflammatory disease; Chronic infantile neurological cutaneous and articular syndrome; CINCA syndrome; IOMID syndrome; Infantile-onset multisystem inflammatory disease (ORPHA:1451)
Gene: NLRP3
Phenotype: Polydipsia (HP:0001959)
Associated disease: Familial cold urticaria; Familial cold autoinflammatory syndrome; FCU; FCAS (ORPHA:47045)
Gene: NLRP3
Phenotype: Recurrent fever (HP:0001954)
Associated disease: MUCKLE-WELLS SYNDROME (OMIM:191900)
Gene: NLRP3
Phenotype: Recurrent fever (HP:0001954)
Associated disease: CINCA SYNDROME (OMIM:607115)
Gene: NLRP3
Phenotype: Recurrent fever (HP:0001954)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 (OMIM:120100)
Gene: NLRP3
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Blurred vision (HP:0000622)
Associated disease: KERATOENDOTHELIITIS FUGAX HEREDITARIA (OMIM:148200)
Gene: NLRP3
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: Muckle-Wells syndrome; Neutrophilic urticaria (ORPHA:575)
Gene: NLRP3
Phenotype: Anemia (HP:0001903)
Associated disease: Muckle-Wells syndrome; Neutrophilic urticaria (ORPHA:575)
Gene: NLRP3
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NLRP3
Phenotype: Anemia (HP:0001903)
Associated disease: CINCA SYNDROME (OMIM:607115)
Gene: NLRP3
Phenotype: Anemia (HP:0001903)
Associated disease: Prieur-Griscelli syndrome; NOMID syndrome; Neonatal-onset multisystem inflammatory disease; Chronic infantile neurological cutaneous and articular syndrome; CINCA syndrome; IOMID syndrome; Infantile-onset multisystem inflammatory disease (ORPHA:1451)
Gene: NLRP3
Phenotype: Renal amyloidosis (HP:0001917)
Associated disease: Muckle-Wells syndrome; Neutrophilic urticaria (ORPHA:575)
Gene: NLRP3
Phenotype: Renal amyloidosis (HP:0001917)
Associated disease: MUCKLE-WELLS SYNDROME (OMIM:191900)
Gene: NLRP3
Phenotype: Renal amyloidosis (HP:0001917)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 (OMIM:120100)
Gene: NLRP3
Phenotype: Abnormal granulocyte morphology (HP:0001911)
Associated disease: Prieur-Griscelli syndrome; NOMID syndrome; Neonatal-onset multisystem inflammatory disease; Chronic infantile neurological cutaneous and articular syndrome; CINCA syndrome; IOMID syndrome; Infantile-onset multisystem inflammatory disease (ORPHA:1451)
Gene: NLRP3
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NLRP3
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Short stature (HP:0004322)
Associated disease: MUCKLE-WELLS SYNDROME (OMIM:191900)
Gene: NLRP3
Phenotype: Short stature (HP:0004322)
Associated disease: Muckle-Wells syndrome; Neutrophilic urticaria (ORPHA:575)
Gene: NLRP3
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NLRP3
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NLRP3
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Prieur-Griscelli syndrome; NOMID syndrome; Neonatal-onset multisystem inflammatory disease; Chronic infantile neurological cutaneous and articular syndrome; CINCA syndrome; IOMID syndrome; Infantile-onset multisystem inflammatory disease (ORPHA:1451)
Gene: NLRP3
Phenotype: Epiretinal membrane (HP:0100014)
Associated disease: KERATOENDOTHELIITIS FUGAX HEREDITARIA (OMIM:148200)
Gene: NLRP3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Childhood onset (HP:0011463)
Associated disease: MUCKLE-WELLS SYNDROME (OMIM:191900)
Gene: NLRP3
Phenotype: Childhood onset (HP:0011463)
Associated disease: CINCA SYNDROME (OMIM:607115)
Gene: NLRP3
Phenotype: Young adult onset (HP:0011462)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION (OMIM:617772)
Gene: NLRP3
Phenotype: Young adult onset (HP:0011462)
Associated disease: KERATOENDOTHELIITIS FUGAX HEREDITARIA (OMIM:148200)
Gene: NLRP3
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Polyarticular arthritis (HP:0005764)
Associated disease: MUCKLE-WELLS SYNDROME (OMIM:191900)
Gene: NLRP3
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NLRP3
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Muckle-Wells syndrome; Neutrophilic urticaria (ORPHA:575)
Gene: NLRP3
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NLRP3
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NLRP3
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NLRP3
Phenotype: Purpura (HP:0000979)
Associated disease: Prieur-Griscelli syndrome; NOMID syndrome; Neonatal-onset multisystem inflammatory disease; Chronic infantile neurological cutaneous and articular syndrome; CINCA syndrome; IOMID syndrome; Infantile-onset multisystem inflammatory disease (ORPHA:1451)
Gene: NLRP3
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Familial cold urticaria; Familial cold autoinflammatory syndrome; FCU; FCAS (ORPHA:47045)
Gene: NLRP3
Phenotype: Pruritus (HP:0000989)
Associated disease: Familial cold urticaria; Familial cold autoinflammatory syndrome; FCU; FCAS (ORPHA:47045)
Gene: NLRP3
Phenotype: Skin rash (HP:0000988)
Associated disease: Muckle-Wells syndrome; Neutrophilic urticaria (ORPHA:575)
Gene: NLRP3
Phenotype: Skin rash (HP:0000988)
Associated disease: CINCA SYNDROME (OMIM:607115)
Gene: NLRP3
Phenotype: Skin rash (HP:0000988)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 (OMIM:120100)
Gene: NLRP3
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)