TaoMedAI/RareMedData huggingface dataset:
Gene: PLCB4
Phenotype: Microglossia (HP:0000171)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: PLCB4
Phenotype: Mandibular condyle aplasia (HP:0007627)
Associated disease: AURICULOCONDYLAR SYNDROME 2 (OMIM:614669)
Gene: PLCB4
Phenotype: Mandibular condyle aplasia (HP:0007627)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: PLCB4
Phenotype: Mandibular condyle hypoplasia (HP:0007628)
Associated disease: AURICULOCONDYLAR SYNDROME 2B (OMIM:620458)
Gene: PLCB4
Phenotype: Mandibular condyle hypoplasia (HP:0007628)
Associated disease: AURICULOCONDYLAR SYNDROME 2 (OMIM:614669)
Gene: PLCB4
Phenotype: Mandibular condyle hypoplasia (HP:0007628)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: PLCB4
Phenotype: Abnormality of the cervical spine (HP:0003319)
Associated disease: AURICULOCONDYLAR SYNDROME 2B (OMIM:620458)
Gene: PLCB4
Phenotype: Hamartoma of tongue (HP:0011802)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: PLCB4
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: PLCB4
Phenotype: Respiratory distress (HP:0002098)
Associated disease: AURICULOCONDYLAR SYNDROME 2 (OMIM:614669)
Gene: PLCB4
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: AURICULOCONDYLAR SYNDROME 2B (OMIM:620458)
Gene: PLCB4
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB4
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Apnea (HP:0002104)
Associated disease: AURICULOCONDYLAR SYNDROME 2 (OMIM:614669)
Gene: PLCB4
Phenotype: Opisthotonus (HP:0002179)
Associated disease: AURICULOCONDYLAR SYNDROME 2B (OMIM:620458)
Gene: PLCB4
Phenotype: Central sleep apnea (HP:0010536)
Associated disease: AURICULOCONDYLAR SYNDROME 2B (OMIM:620458)
Gene: PLCB4
Phenotype: Congenital onset (HP:0003577)
Associated disease: AURICULOCONDYLAR SYNDROME 2B (OMIM:620458)
Gene: PLCB4
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: AURICULOCONDYLAR SYNDROME 2B (OMIM:620458)
Gene: PLCB4
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: PLCB4
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: AURICULOCONDYLAR SYNDROME 2 (OMIM:614669)
Gene: PLCB4
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB4
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Cleft at the superior portion of the pinna (HP:0008537)
Associated disease: AURICULOCONDYLAR SYNDROME 2 (OMIM:614669)
Gene: PLCB4
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Abnormality of the temporomandibular joint (HP:0010754)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: PLCB4
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB4
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB4
Phenotype: Speech articulation difficulties (HP:0009088)
Associated disease: AURICULOCONDYLAR SYNDROME 2 (OMIM:614669)
Gene: PLCB4
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB4
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB4
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB4
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: AURICULOCONDYLAR SYNDROME 2 (OMIM:614669)
Gene: PLCB4
Phenotype: Dental crowding (HP:0000678)
Associated disease: AURICULOCONDYLAR SYNDROME 2 (OMIM:614669)
Gene: PLCB4
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Dental crowding (HP:0000678)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: PLCB4
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: AURICULOCONDYLAR SYNDROME 2 (OMIM:614669)
Gene: PLCB4
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: PLCB4
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB4
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Synophrys (HP:0000664)
Associated disease: AURICULOCONDYLAR SYNDROME 2B (OMIM:620458)
Gene: PLCB4
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB4
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB4
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Autistic behavior (HP:0000729)
Associated disease: AURICULOCONDYLAR SYNDROME 2B (OMIM:620458)
Gene: PLCB4
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Overfolding of the superior helices (HP:0004453)
Associated disease: AURICULOCONDYLAR SYNDROME 2 (OMIM:614669)
Gene: PLCB4
Phenotype: Postauricular skin tag (HP:0004451)
Associated disease: AURICULOCONDYLAR SYNDROME 2B (OMIM:620458)
Gene: PLCB4
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB4
Phenotype: Vein of Galen aneurysmal malformation (HP:0030713)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: PLCB4
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB4
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB4
Phenotype: Periauricular skin pits (HP:0100277)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: PLCB4
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Sparse hair (HP:0008070)
Associated disease: AURICULOCONDYLAR SYNDROME 2B (OMIM:620458)
Gene: PLCB4
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Full cheeks (HP:0000293)
Associated disease: AURICULOCONDYLAR SYNDROME 2B (OMIM:620458)
Gene: PLCB4
Phenotype: Full cheeks (HP:0000293)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: PLCB4
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: PLCB4
Phenotype: Macrocephaly (HP:0000256)
Associated disease: AURICULOCONDYLAR SYNDROME 2 (OMIM:614669)
Gene: PLCB4
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB4
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: PLCB4
Phenotype: Question mark ear (HP:0030022)
Associated disease: AURICULOCONDYLAR SYNDROME 2B (OMIM:620458)
Gene: PLCB4
Phenotype: Question mark ear (HP:0030022)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: PLCB4
Phenotype: Omphalocele (HP:0001539)
Associated disease: AURICULOCONDYLAR SYNDROME 2B (OMIM:620458)
Gene: PLCB4
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB4
Phenotype: Failure to thrive (HP:0001508)
Associated disease: AURICULOCONDYLAR SYNDROME 2B (OMIM:620458)
Gene: PLCB4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB4
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: AURICULOCONDYLAR SYNDROME 2B (OMIM:620458)
Gene: PLCB4
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: PLCB4
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: PLCB4
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: PLCB4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: AURICULOCONDYLAR SYNDROME 2 (OMIM:614669)
Gene: PLCB4
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: PLCB4
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: AURICULOCONDYLAR SYNDROME 2 (OMIM:614669)
Gene: PLCB4
Phenotype: Low-set ears (HP:0000369)
Associated disease: AURICULOCONDYLAR SYNDROME 2 (OMIM:614669)
Gene: PLCB4
Phenotype: Narrow forehead (HP:0000341)
Associated disease: AURICULOCONDYLAR SYNDROME 2B (OMIM:620458)
Gene: PLCB4
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB4
Phenotype: Micrognathia (HP:0000347)
Associated disease: AURICULOCONDYLAR SYNDROME 2B (OMIM:620458)
Gene: PLCB4
Phenotype: Micrognathia (HP:0000347)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: PLCB4
Phenotype: Micrognathia (HP:0000347)
Associated disease: AURICULOCONDYLAR SYNDROME 2 (OMIM:614669)
Gene: PLCB4
Phenotype: Round face (HP:0000311)
Associated disease: AURICULOCONDYLAR SYNDROME 2 (OMIM:614669)
Gene: PLCB4
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: PLCB4
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: AURICULOCONDYLAR SYNDROME 2B (OMIM:620458)
Gene: PLCB4
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB4
Phenotype: Temporomandibular joint ankylosis (HP:0012478)
Associated disease: AURICULOCONDYLAR SYNDROME 2 (OMIM:614669)
Gene: PLCB4
Phenotype: Stenosis of the external auditory canal (HP:0000402)
Associated disease: AURICULOCONDYLAR SYNDROME 2 (OMIM:614669)
Gene: PLCB4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Chronic constipation (HP:0012450)
Associated disease: AURICULOCONDYLAR SYNDROME 2B (OMIM:620458)
Gene: PLCB4
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB4
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Telecanthus (HP:0000506)
Associated disease: AURICULOCONDYLAR SYNDROME 2B (OMIM:620458)
Gene: PLCB4
Phenotype: Ptosis (HP:0000508)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: PLCB4
Phenotype: Ptosis (HP:0000508)
Associated disease: AURICULOCONDYLAR SYNDROME 2 (OMIM:614669)
Gene: PLCB4
Phenotype: Darwin tubercle of helix (HP:0011261)
Associated disease: AURICULOCONDYLAR SYNDROME 2B (OMIM:620458)
Gene: PLCB4
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCD1
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Leukonychia totalis (ORPHA:2387)
Gene: PLCD1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3 (OMIM:151600)
Gene: PLCD1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3 (OMIM:151600)
Gene: PLCD1
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: Leukonychia totalis (ORPHA:2387)
Gene: PLCD1
Phenotype: Congenital onset (HP:0003577)
Associated disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3 (OMIM:151600)
Gene: PLCD1
Phenotype: Adenoma sebaceum (HP:0009720)
Associated disease: Leukonychia totalis (ORPHA:2387)
Gene: PLCD1
Phenotype: Abnormal toenail morphology (HP:0008388)
Associated disease: Leukonychia totalis (ORPHA:2387)
Gene: PLCD1
Phenotype: Photophobia (HP:0000613)
Associated disease: Leukonychia totalis (ORPHA:2387)
Gene: PLCD1
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Leukonychia totalis (ORPHA:2387)
Gene: PLCD1
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3 (OMIM:151600)
Gene: PLCD1
Phenotype: Concave nail (HP:0001598)
Associated disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3 (OMIM:151600)
Gene: PLCD1
Phenotype: Abnormal eyelash morphology (HP:0000499)
Associated disease: Leukonychia totalis (ORPHA:2387)
Gene: PLCD1
Phenotype: Blepharitis (HP:0000498)
Associated disease: Leukonychia totalis (ORPHA:2387)
Gene: PLCD1
Phenotype: Abnormal skin morphology (HP:0011121)
Associated disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3 (OMIM:151600)
Gene: PLCD1
Phenotype: Leukonychia (HP:0001820)
Associated disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3 (OMIM:151600)
Gene: PLCG1
Phenotype: Cervical lymphadenopathy (HP:0025289)
Associated disease: IMMUNE DYSREGULATION, AUTOIMMUNITY, AND AUTOINFLAMMATION (OMIM:620514)
Gene: PLCG1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: IMMUNE DYSREGULATION, AUTOIMMUNITY, AND AUTOINFLAMMATION (OMIM:620514)
Gene: PLCG1
Phenotype: Abnormal circulating C-reactive protein concentration (HP:0032436)
Associated disease: IMMUNE DYSREGULATION, AUTOIMMUNITY, AND AUTOINFLAMMATION (OMIM:620514)
Gene: PLCG1
Phenotype: Increased circulating interleukin 8 concentration (HP:0033178)
Associated disease: IMMUNE DYSREGULATION, AUTOIMMUNITY, AND AUTOINFLAMMATION (OMIM:620514)
Gene: PLCG1
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: IMMUNE DYSREGULATION, AUTOIMMUNITY, AND AUTOINFLAMMATION (OMIM:620514)
Gene: PLCG1
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: IMMUNE DYSREGULATION, AUTOIMMUNITY, AND AUTOINFLAMMATION (OMIM:620514)
Gene: PLCG1
Phenotype: Inguinal lymphadenopathy (HP:0034751)
Associated disease: IMMUNE DYSREGULATION, AUTOIMMUNITY, AND AUTOINFLAMMATION (OMIM:620514)
Gene: PLCG1
Phenotype: Anemia (HP:0001903)
Associated disease: IMMUNE DYSREGULATION, AUTOIMMUNITY, AND AUTOINFLAMMATION (OMIM:620514)
Gene: PLCG1
Phenotype: Childhood onset (HP:0011463)
Associated disease: IMMUNE DYSREGULATION, AUTOIMMUNITY, AND AUTOINFLAMMATION (OMIM:620514)
Gene: PLCG1
Phenotype: Increased circulating interleukin 6 concentration (HP:0030783)
Associated disease: IMMUNE DYSREGULATION, AUTOIMMUNITY, AND AUTOINFLAMMATION (OMIM:620514)
Gene: PLCG1
Phenotype: Decreased circulating complement C4 concentration (HP:0045042)
Associated disease: IMMUNE DYSREGULATION, AUTOIMMUNITY, AND AUTOINFLAMMATION (OMIM:620514)
Gene: PLCG1
Phenotype: Petechiae (HP:0000967)
Associated disease: IMMUNE DYSREGULATION, AUTOIMMUNITY, AND AUTOINFLAMMATION (OMIM:620514)
Gene: PLCG1
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: IMMUNE DYSREGULATION, AUTOIMMUNITY, AND AUTOINFLAMMATION (OMIM:620514)
Gene: PLCG1
Phenotype: Ecchymosis (HP:0031364)
Associated disease: IMMUNE DYSREGULATION, AUTOIMMUNITY, AND AUTOINFLAMMATION (OMIM:620514)
Gene: PLCG1
Phenotype: Epistaxis (HP:0000421)
Associated disease: IMMUNE DYSREGULATION, AUTOIMMUNITY, AND AUTOINFLAMMATION (OMIM:620514)
Gene: PLCG1
Phenotype: Decreased circulating complement C3 concentration (HP:0005421)
Associated disease: IMMUNE DYSREGULATION, AUTOIMMUNITY, AND AUTOINFLAMMATION (OMIM:620514)
Gene: PLCG2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3 (OMIM:614468)
Gene: PLCG2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION (OMIM:614878)
Gene: PLCG2
Phenotype: Cold urticaria (HP:0410135)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3 (OMIM:614468)
Gene: PLCG2
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION (OMIM:614878)
Gene: PLCG2
Phenotype: Asthma (HP:0002099)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3 (OMIM:614468)
Gene: PLCG2
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3 (OMIM:614468)
Gene: PLCG2
Phenotype: Infantile onset (HP:0003593)
Associated disease: AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION (OMIM:614878)
Gene: PLCG2
Phenotype: Infantile onset (HP:0003593)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3 (OMIM:614468)
Gene: PLCG2
Phenotype: Dermatographic urticaria (HP:0011971)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3 (OMIM:614468)
Gene: PLCG2
Phenotype: Bronchiolitis (HP:0011950)
Associated disease: AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION (OMIM:614878)
Gene: PLCG2
Phenotype: Vitiligo (HP:0001045)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3 (OMIM:614468)
Gene: PLCG2
Phenotype: Corneal erosion (HP:0200020)
Associated disease: AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION (OMIM:614878)
Gene: PLCG2
Phenotype: Cellulitis (HP:0100658)
Associated disease: AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION (OMIM:614878)
Gene: PLCG2
Phenotype: Angioedema (HP:0100665)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3 (OMIM:614468)
Gene: PLCG2
Phenotype: Erythema (HP:0010783)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3 (OMIM:614468)
Gene: PLCG2
Phenotype: Erythema (HP:0010783)
Associated disease: AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION (OMIM:614878)
Gene: PLCG2
Phenotype: Presyncope (HP:0031972)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3 (OMIM:614468)
Gene: PLCG2
Phenotype: Enterocolitis (HP:0004387)
Associated disease: AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION (OMIM:614878)
Gene: PLCG2
Phenotype: Childhood onset (HP:0011463)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3 (OMIM:614468)
Gene: PLCG2
Phenotype: Allergic rhinitis (HP:0003193)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3 (OMIM:614468)
Gene: PLCG2
Phenotype: Hashimoto thyroiditis (HP:0000872)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3 (OMIM:614468)
Gene: PLCG2
Phenotype: Ulcerative colitis (HP:0100279)
Associated disease: AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION (OMIM:614878)
Gene: PLCG2
Phenotype: Pruritus (HP:0000989)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3 (OMIM:614468)
Gene: PLCG2
Phenotype: Arthralgia (HP:0002829)
Associated disease: AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION (OMIM:614878)
Gene: PLCG2
Phenotype: Onychomycosis (HP:0012203)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3 (OMIM:614468)
Gene: PLCG2
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION (OMIM:614878)
Gene: PLCG2
Phenotype: Allergy (HP:0012393)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3 (OMIM:614468)
Gene: PLCG2
Phenotype: Interstitial pneumonitis (HP:0006515)
Associated disease: AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION (OMIM:614878)
Gene: PLCG2
Phenotype: Immune dysregulation (HP:0002958)
Associated disease: AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION (OMIM:614878)
Gene: PLCG2
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3 (OMIM:614468)
Gene: PLCG2
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION (OMIM:614878)
Gene: PLCG2
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3 (OMIM:614468)