TaoMedAI/RareMedData huggingface dataset:
Gene: PLAGL1
Phenotype: Prominent occiput (HP:0000269)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: PLAGL1
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: PLAGL1
Phenotype: Small anterior fontanelle (HP:0000237)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: PLAGL1
Phenotype: High palate (HP:0000218)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: PLAGL1
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: PLAGL1
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: PLAGL1
Phenotype: Severe failure to thrive (HP:0001525)
Associated disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 1 (OMIM:601410)
Gene: PLAGL1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: PLAGL1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: PLAGL1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: PLAGL1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: PLAGL1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: PLAGL1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: PLAGL1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 1 (OMIM:601410)
Gene: PLAGL1
Phenotype: Abnormal earlobe morphology (HP:0000363)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: PLAGL1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: PLAGL1
Phenotype: Micrognathia (HP:0000347)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: PLAGL1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: PLAGL1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: PLAGL1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: PLAGL1
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: PLAGL1
Phenotype: Prominent nose (HP:0000448)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: PLAGL1
Phenotype: Hypoplastic fingernail (HP:0001804)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: PLAGL1
Phenotype: Shallow orbits (HP:0000586)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: PLAU
Phenotype: Long-tract sign (HP:0002423)
Associated disease: ALZHEIMER DISEASE (OMIM:104300)
Gene: PLAU
Phenotype: Alzheimer disease (HP:0002511)
Associated disease: ALZHEIMER DISEASE (OMIM:104300)
Gene: PLAU
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ALZHEIMER DISEASE (OMIM:104300)
Gene: PLAU
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: QUEBEC PLATELET DISORDER (OMIM:601709)
Gene: PLAU
Phenotype: Parkinsonism (HP:0001300)
Associated disease: ALZHEIMER DISEASE (OMIM:104300)
Gene: PLAU
Phenotype: Decreased circulating GABA concentration (HP:0410054)
Associated disease: ALZHEIMER DISEASE (OMIM:104300)
Gene: PLAU
Phenotype: Menorrhagia (HP:0000132)
Associated disease: QUEBEC PLATELET DISORDER (OMIM:601709)
Gene: PLAU
Phenotype: Impaired epinephrine-induced platelet aggregation (HP:0008148)
Associated disease: QUEBEC PLATELET DISORDER (OMIM:601709)
Gene: PLAU
Phenotype: Neurofibrillary tangles (HP:0002185)
Associated disease: ALZHEIMER DISEASE (OMIM:104300)
Gene: PLAU
Phenotype: Adult onset (HP:0003581)
Associated disease: ALZHEIMER DISEASE (OMIM:104300)
Gene: PLAU
Phenotype: Dementia (HP:0000726)
Associated disease: ALZHEIMER DISEASE (OMIM:104300)
Gene: PLAU
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: QUEBEC PLATELET DISORDER (OMIM:601709)
Gene: PLAU
Phenotype: Joint hemorrhage (HP:0005261)
Associated disease: QUEBEC PLATELET DISORDER (OMIM:601709)
Gene: PLAU
Phenotype: Epistaxis (HP:0000421)
Associated disease: QUEBEC PLATELET DISORDER (OMIM:601709)
Gene: PLAU
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: QUEBEC PLATELET DISORDER (OMIM:601709)
Gene: PLCB3
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY (OMIM:618961)
Gene: PLCB3
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB3
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB3
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB3
Phenotype: Death in childhood (HP:0003819)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY (OMIM:618961)
Gene: PLCB3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB3
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB3
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY (OMIM:618961)
Gene: PLCB3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB3
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB3
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY (OMIM:618961)
Gene: PLCB3
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY (OMIM:618961)
Gene: PLCB3
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB3
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB3
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB3
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Coarse metaphyseal trabecularization (HP:0100670)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY (OMIM:618961)
Gene: PLCB3
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY (OMIM:618961)
Gene: PLCB3
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB3
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB3
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB3
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB3
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB3
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY (OMIM:618961)
Gene: PLCB3
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB3
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB3
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB3
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY (OMIM:618961)
Gene: PLCB3
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Short long bone (HP:0003026)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY (OMIM:618961)
Gene: PLCB3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Narrow chest (HP:0000774)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY (OMIM:618961)
Gene: PLCB3
Phenotype: Short ribs (HP:0000773)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY (OMIM:618961)
Gene: PLCB3
Phenotype: Lumbar platyspondyly (HP:0005787)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY (OMIM:618961)
Gene: PLCB3
Phenotype: Short nose (HP:0003196)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY (OMIM:618961)
Gene: PLCB3
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Squared iliac bones (HP:0003177)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY (OMIM:618961)
Gene: PLCB3
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB3
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB3
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Beaking of vertebral bodies (HP:0004568)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY (OMIM:618961)
Gene: PLCB3
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB3
Phenotype: Thoracic platyspondyly (HP:0004592)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY (OMIM:618961)
Gene: PLCB3
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB3
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB3
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB3
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY (OMIM:618961)
Gene: PLCB3
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY (OMIM:618961)
Gene: PLCB3
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB3
Phenotype: Corneal opacity (HP:0007957)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY (OMIM:618961)
Gene: PLCB3
Phenotype: Increased intervertebral space (HP:0030320)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY (OMIM:618961)
Gene: PLCB3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY (OMIM:618961)
Gene: PLCB3
Phenotype: Anteverted nares (HP:0000463)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY (OMIM:618961)
Gene: PLCB3
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB3
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Proptosis (HP:0000520)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY (OMIM:618961)
Gene: PLCB3
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB3
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB4
Phenotype: Cleft helix (HP:0009902)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: PLCB4
Phenotype: Limbal dermoid (HP:0001140)
Associated disease: AURICULOCONDYLAR SYNDROME 2B (OMIM:620458)
Gene: PLCB4
Phenotype: Short mandibular rami (HP:0003778)
Associated disease: AURICULOCONDYLAR SYNDROME 2 (OMIM:614669)
Gene: PLCB4
Phenotype: Abnormality of the crus of the helix (HP:0009895)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: PLCB4
Phenotype: Hypoplastic superior helix (HP:0008559)
Associated disease: AURICULOCONDYLAR SYNDROME 2 (OMIM:614669)
Gene: PLCB4
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB4
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB4
Phenotype: Snoring (HP:0025267)
Associated disease: AURICULOCONDYLAR SYNDROME 2 (OMIM:614669)
Gene: PLCB4
Phenotype: Snoring (HP:0025267)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: PLCB4
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: PLCB4
Phenotype: Hypotonia (HP:0001252)
Associated disease: AURICULOCONDYLAR SYNDROME 2 (OMIM:614669)
Gene: PLCB4
Phenotype: Hypotonia (HP:0001252)
Associated disease: AURICULOCONDYLAR SYNDROME 2B (OMIM:620458)
Gene: PLCB4
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: PLCB4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Aplasia/Hypoplasia of the external ear (HP:0008772)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: PLCB4
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB4
Phenotype: Long penis (HP:0000040)
Associated disease: AURICULOCONDYLAR SYNDROME 2B (OMIM:620458)
Gene: PLCB4
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB4
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: AURICULOCONDYLAR SYNDROME 2B (OMIM:620458)
Gene: PLCB4
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB4
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AURICULOCONDYLAR SYNDROME 2 (OMIM:614669)
Gene: PLCB4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AURICULOCONDYLAR SYNDROME 2B (OMIM:620458)
Gene: PLCB4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AURICULOCONDYLAR SYNDROME 2 (OMIM:614669)
Gene: PLCB4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB4
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB4
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: AURICULOCONDYLAR SYNDROME 2B (OMIM:620458)
Gene: PLCB4
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLCB4
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Tongue muscle weakness (HP:0000183)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: PLCB4
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: PLCB4
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: PLCB4
Phenotype: Narrow mouth (HP:0000160)
Associated disease: AURICULOCONDYLAR SYNDROME 2 (OMIM:614669)
Gene: PLCB4
Phenotype: Narrow mouth (HP:0000160)
Associated disease: AURICULOCONDYLAR SYNDROME 2B (OMIM:620458)
Gene: PLCB4
Phenotype: Glossoptosis (HP:0000162)
Associated disease: AURICULOCONDYLAR SYNDROME 2 (OMIM:614669)
Gene: PLCB4
Phenotype: Glossoptosis (HP:0000162)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: PLCB4
Phenotype: Cleft palate (HP:0000175)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: PLCB4
Phenotype: Cleft palate (HP:0000175)
Associated disease: AURICULOCONDYLAR SYNDROME 2 (OMIM:614669)
Gene: PLCB4
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLCB4
Phenotype: Microglossia (HP:0000171)
Associated disease: AURICULOCONDYLAR SYNDROME 2 (OMIM:614669)