TaoMedAI/RareMedData huggingface dataset:
Gene: PPP1CB
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Noonan syndrome-like disorder with loose anagen hair; NS/LAH; Mazzanti syndrome (ORPHA:2701)
Gene: PPP1CB
Phenotype: Coarse hair (HP:0002208)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PPP1CB
Phenotype: Dermal translucency (HP:0010648)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PPP1CB
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1CB
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PPP1CB
Phenotype: Abnormality of the elbow (HP:0009811)
Associated disease: Noonan syndrome-like disorder with loose anagen hair; NS/LAH; Mazzanti syndrome (ORPHA:2701)
Gene: PPP1CB
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1CB
Phenotype: Peripheral pulmonary artery stenosis (HP:0004969)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1CB
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1CB
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Nystagmus (HP:0000639)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1CB
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1CB
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PPP1CB
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1CB
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PPP1CB
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PPP1CB
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1CB
Phenotype: Carious teeth (HP:0000670)
Associated disease: Noonan syndrome-like disorder with loose anagen hair; NS/LAH; Mazzanti syndrome (ORPHA:2701)
Gene: PPP1CB
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Short stature (HP:0004322)
Associated disease: Noonan syndrome-like disorder with loose anagen hair; NS/LAH; Mazzanti syndrome (ORPHA:2701)
Gene: PPP1CB
Phenotype: Short stature (HP:0004322)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1CB
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1CB
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PPP1CB
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Noonan syndrome-like disorder with loose anagen hair; NS/LAH; Mazzanti syndrome (ORPHA:2701)
Gene: PPP1CB
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Anxiety (HP:0000739)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Fetal onset (HP:0011461)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Short nose (HP:0003196)
Associated disease: Noonan syndrome-like disorder with loose anagen hair; NS/LAH; Mazzanti syndrome (ORPHA:2701)
Gene: PPP1CB
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Preauricular pit (HP:0004467)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1CB
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PPP1CB
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1CB
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1CB
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PPP1CB
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Thin skin (HP:0000963)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Sparse hair (HP:0008070)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PPP1CB
Phenotype: Epicanthus (HP:0000286)
Associated disease: Noonan syndrome-like disorder with loose anagen hair; NS/LAH; Mazzanti syndrome (ORPHA:2701)
Gene: PPP1CB
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Epicanthus (HP:0000286)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Macrocephaly (HP:0000256)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Abnormal intervertebral disk morphology (HP:0005108)
Associated disease: Noonan syndrome-like disorder with loose anagen hair; NS/LAH; Mazzanti syndrome (ORPHA:2701)
Gene: PPP1CB
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PPP1CB
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Noonan syndrome-like disorder with loose anagen hair; NS/LAH; Mazzanti syndrome (ORPHA:2701)
Gene: PPP1CB
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: High palate (HP:0000218)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Noonan syndrome-like disorder with loose anagen hair; NS/LAH; Mazzanti syndrome (ORPHA:2701)
Gene: PPP1CB
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1CB
Phenotype: Triangular mouth (HP:0000207)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1CB
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PPP1CB
Phenotype: Failure to thrive (HP:0001508)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1CB
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Overfolded helix (HP:0000396)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Thickened helices (HP:0000391)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Noonan syndrome-like disorder with loose anagen hair; NS/LAH; Mazzanti syndrome (ORPHA:2701)
Gene: PPP1CB
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1CB
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Noonan syndrome-like disorder with loose anagen hair; NS/LAH; Mazzanti syndrome (ORPHA:2701)
Gene: PPP1CB
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Low-set ears (HP:0000369)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Narrow forehead (HP:0000341)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Long philtrum (HP:0000343)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1CB
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: High forehead (HP:0000348)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PPP1CB
Phenotype: Hypoplastic aortic arch (HP:0012304)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Noonan syndrome-like disorder with loose anagen hair; NS/LAH; Mazzanti syndrome (ORPHA:2701)
Gene: PPP1CB
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PPP1CB
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: Noonan syndrome-like disorder with loose anagen hair; NS/LAH; Mazzanti syndrome (ORPHA:2701)
Gene: PPP1CB
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Facial hemangioma (HP:0000329)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PPP1CB
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Noonan syndrome-like disorder with loose anagen hair; NS/LAH; Mazzanti syndrome (ORPHA:2701)
Gene: PPP1CB
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PPP1CB
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1CB
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Sparse lateral eyebrow (HP:0005338)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Macrotia (HP:0000400)
Associated disease: Noonan syndrome-like disorder with loose anagen hair; NS/LAH; Mazzanti syndrome (ORPHA:2701)
Gene: PPP1CB
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PPP1CB
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PPP1CB
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Noonan syndrome-like disorder with loose anagen hair; NS/LAH; Mazzanti syndrome (ORPHA:2701)
Gene: PPP1CB
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PPP1CB
Phenotype: Chronic constipation (HP:0012450)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Broad neck (HP:0000475)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Short neck (HP:0000470)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Webbed neck (HP:0000465)
Associated disease: Noonan syndrome-like disorder with loose anagen hair; NS/LAH; Mazzanti syndrome (ORPHA:2701)
Gene: PPP1CB
Phenotype: Webbed neck (HP:0000465)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PPP1CB
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Wide nose (HP:0000445)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1CB
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PPP1CB
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PPP1CB
Phenotype: Ptosis (HP:0000508)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: Noonan syndrome-like disorder with loose anagen hair; NS/LAH; Mazzanti syndrome (ORPHA:2701)
Gene: PPP1CB
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Prominent forehead (HP:0011220)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PPP1CB
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1R3A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: PPP1R3A
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: PPP1R3A
Phenotype: Late onset (HP:0003584)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: PPP1R3A
Phenotype: Increased waist to hip ratio (HP:0031819)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: PPP1R3A
Phenotype: Insulin resistance (HP:0000855)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: PPP2CA
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES (OMIM:618354)
Gene: PPP2CA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES (OMIM:618354)
Gene: PPP2CA
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES (OMIM:618354)
Gene: PPP2CA
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES (OMIM:618354)
Gene: PPP2CA
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES (OMIM:618354)
Gene: PPP2CA
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES (OMIM:618354)
Gene: PPP2CA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES (OMIM:618354)
Gene: PPP2CA
Phenotype: Frontal bossing (HP:0002007)
Associated disease: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES (OMIM:618354)
Gene: PPP2CA
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES (OMIM:618354)
Gene: PPP2CA
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES (OMIM:618354)
Gene: PPP2CA
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES (OMIM:618354)
Gene: PPP2CA
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES (OMIM:618354)