TaoMedAI/RareMedData huggingface dataset:
Gene: PIK3R1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE (OMIM:615214)
Gene: PIK3R1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: IMMUNODEFICIENCY 36 (OMIM:616005)
Gene: PIK3R1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PIK3R1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PIK3R1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PIK3R1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: B-cell lymphoma (HP:0012191)
Associated disease: IMMUNODEFICIENCY 36 (OMIM:616005)
Gene: PIK3R1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Lipodystrophy-Rieger anomaly-diabetes syndrome; SHORT syndrome; Rieger anomaly-partial lipodystrophy syndrome (ORPHA:3163)
Gene: PIK3R1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Ovarian cyst (HP:0000138)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Hepatitis (HP:0012115)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3R1
Phenotype: Hypoplasia of the iris (HP:0007676)
Associated disease: Lipodystrophy-Rieger anomaly-diabetes syndrome; SHORT syndrome; Rieger anomaly-partial lipodystrophy syndrome (ORPHA:3163)
Gene: PIK3R1
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: IMMUNODEFICIENCY 36 (OMIM:616005)
Gene: PIK3R1
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: IMMUNODEFICIENCY 36 (OMIM:616005)
Gene: PIK3R1
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3R1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3R1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE (OMIM:615214)
Gene: PIK3R1
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: IMMUNODEFICIENCY 36 (OMIM:616005)
Gene: PIK3R1
Phenotype: Abnormality of the immune system (HP:0002715)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease:  (ORPHA:693681)
Gene: PIK3R1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease:  (ORPHA:693681)
Gene: PIK3R1
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: IMMUNODEFICIENCY 36 (OMIM:616005)
Gene: PIK3R1
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY 36 (OMIM:616005)
Gene: PIK3R1
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3R1
Phenotype: Malabsorption (HP:0002024)
Associated disease:  (ORPHA:693681)
Gene: PIK3R1
Phenotype: Malabsorption (HP:0002024)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3R1
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: IMMUNODEFICIENCY 36 (OMIM:616005)
Gene: PIK3R1
Phenotype: Diarrhea (HP:0002014)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3R1
Phenotype: Diarrhea (HP:0002014)
Associated disease:  (ORPHA:693681)
Gene: PIK3R1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Lipodystrophy-Rieger anomaly-diabetes syndrome; SHORT syndrome; Rieger anomaly-partial lipodystrophy syndrome (ORPHA:3163)
Gene: PIK3R1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PIK3R1
Phenotype: Radial deviation of finger (HP:0009466)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease:  (ORPHA:693681)
Gene: PIK3R1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: IMMUNODEFICIENCY 36 (OMIM:616005)
Gene: PIK3R1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3R1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Lipodystrophy-Rieger anomaly-diabetes syndrome; SHORT syndrome; Rieger anomaly-partial lipodystrophy syndrome (ORPHA:3163)
Gene: PIK3R1
Phenotype: Increased circulating IgM level (HP:0003496)
Associated disease: IMMUNODEFICIENCY 36 (OMIM:616005)
Gene: PIK3R1
Phenotype: Enlarged epiphyses (HP:0010580)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Infantile onset (HP:0003593)
Associated disease: AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE (OMIM:615214)
Gene: PIK3R1
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 36 (OMIM:616005)
Gene: PIK3R1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease:  (ORPHA:693681)
Gene: PIK3R1
Phenotype: Birth length less than 3rd percentile (HP:0003561)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3R1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease:  (ORPHA:693681)
Gene: PIK3R1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE (OMIM:615214)
Gene: PIK3R1
Phenotype: Abnormal zygomatic bone morphology (HP:0010668)
Associated disease: Lipodystrophy-Rieger anomaly-diabetes syndrome; SHORT syndrome; Rieger anomaly-partial lipodystrophy syndrome (ORPHA:3163)
Gene: PIK3R1
Phenotype: Decreased circulating IgG2 concentration (HP:0008348)
Associated disease:  (ORPHA:693681)
Gene: PIK3R1
Phenotype: Intestinal lymphoid nodular hyperplasia (HP:0011956)
Associated disease:  (ORPHA:693681)
Gene: PIK3R1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Severe short stature (HP:0003510)
Associated disease: Lipodystrophy-Rieger anomaly-diabetes syndrome; SHORT syndrome; Rieger anomaly-partial lipodystrophy syndrome (ORPHA:3163)
Gene: PIK3R1
Phenotype: Persistent EBV viremia (HP:0020072)
Associated disease: IMMUNODEFICIENCY 36 (OMIM:616005)
Gene: PIK3R1
Phenotype: Prominent superficial veins (HP:0001015)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PIK3R1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Cellulitis (HP:0100658)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3R1
Phenotype: Premature skin wrinkling (HP:0100678)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Verrucae (HP:0200043)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3R1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: High hypermetropia (HP:0008499)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Molluscum contagiosum (HP:0032163)
Associated disease:  (ORPHA:693681)
Gene: PIK3R1
Phenotype: Dimple chin (HP:0010751)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PIK3R1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: IMMUNODEFICIENCY 36 (OMIM:616005)
Gene: PIK3R1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PIK3R1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PIK3R1
Phenotype: Short palm (HP:0004279)
Associated disease: Lipodystrophy-Rieger anomaly-diabetes syndrome; SHORT syndrome; Rieger anomaly-partial lipodystrophy syndrome (ORPHA:3163)
Gene: PIK3R1
Phenotype: Chronic lymphatic leukemia (HP:0005550)
Associated disease: IMMUNODEFICIENCY 36 (OMIM:616005)
Gene: PIK3R1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PIK3R1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PIK3R1
Phenotype: Dehydration (HP:0001944)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3R1
Phenotype: Abnormal pupil morphology (HP:0000615)
Associated disease: Lipodystrophy-Rieger anomaly-diabetes syndrome; SHORT syndrome; Rieger anomaly-partial lipodystrophy syndrome (ORPHA:3163)
Gene: PIK3R1
Phenotype: Fever (HP:0001945)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3R1
Phenotype: Posterior embryotoxon (HP:0000627)
Associated disease: Lipodystrophy-Rieger anomaly-diabetes syndrome; SHORT syndrome; Rieger anomaly-partial lipodystrophy syndrome (ORPHA:3163)
Gene: PIK3R1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Glucose intolerance (HP:0001952)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PIK3R1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Lipodystrophy-Rieger anomaly-diabetes syndrome; SHORT syndrome; Rieger anomaly-partial lipodystrophy syndrome (ORPHA:3163)
Gene: PIK3R1
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Microdontia (HP:0000691)
Associated disease: Lipodystrophy-Rieger anomaly-diabetes syndrome; SHORT syndrome; Rieger anomaly-partial lipodystrophy syndrome (ORPHA:3163)
Gene: PIK3R1
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PIK3R1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Hypodontia (HP:0000668)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Short stature (HP:0004322)
Associated disease: IMMUNODEFICIENCY 36 (OMIM:616005)
Gene: PIK3R1
Phenotype: Short stature (HP:0004322)
Associated disease:  (ORPHA:693681)
Gene: PIK3R1
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: IMMUNODEFICIENCY 36 (OMIM:616005)
Gene: PIK3R1
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Poor appetite (HP:0004396)
Associated disease: Lipodystrophy-Rieger anomaly-diabetes syndrome; SHORT syndrome; Rieger anomaly-partial lipodystrophy syndrome (ORPHA:3163)
Gene: PIK3R1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PIK3R1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PIK3R1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Cough (HP:0012735)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3R1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Childhood onset (HP:0011463)
Associated disease: IMMUNODEFICIENCY 36 (OMIM:616005)
Gene: PIK3R1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: Lipodystrophy-Rieger anomaly-diabetes syndrome; SHORT syndrome; Rieger anomaly-partial lipodystrophy syndrome (ORPHA:3163)
Gene: PIK3R1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: IMMUNODEFICIENCY 36 (OMIM:616005)
Gene: PIK3R1
Phenotype: Agammaglobulinemia (HP:0004432)
Associated disease: AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE (OMIM:615214)
Gene: PIK3R1
Phenotype: Agammaglobulinemia (HP:0004432)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3R1
Phenotype: Slender long bone (HP:0003100)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PIK3R1
Phenotype: Panhypogammaglobulinemia (HP:0003139)
Associated disease: AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE (OMIM:615214)
Gene: PIK3R1
Phenotype: Insulin resistance (HP:0000855)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Insulin resistance (HP:0000855)
Associated disease: Lipodystrophy-Rieger anomaly-diabetes syndrome; SHORT syndrome; Rieger anomaly-partial lipodystrophy syndrome (ORPHA:3163)
Gene: PIK3R1
Phenotype: Insulin-resistant diabetes mellitus (HP:0000831)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Lipodystrophy-Rieger anomaly-diabetes syndrome; SHORT syndrome; Rieger anomaly-partial lipodystrophy syndrome (ORPHA:3163)
Gene: PIK3R1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PIK3R1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Reduced total natural killer cell count (HP:0040218)
Associated disease: AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE (OMIM:615214)
Gene: PIK3R1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PIK3R1
Phenotype: Enlarged tonsils (HP:0030812)
Associated disease: IMMUNODEFICIENCY 36 (OMIM:616005)
Gene: PIK3R1
Phenotype: Skin rash (HP:0000988)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3R1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Thin skin (HP:0000963)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Sparse hair (HP:0008070)
Associated disease: Lipodystrophy-Rieger anomaly-diabetes syndrome; SHORT syndrome; Rieger anomaly-partial lipodystrophy syndrome (ORPHA:3163)
Gene: PIK3R1
Phenotype: Epicanthus (HP:0000286)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3R1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Alopecia (HP:0001596)
Associated disease: Lipodystrophy-Rieger anomaly-diabetes syndrome; SHORT syndrome; Rieger anomaly-partial lipodystrophy syndrome (ORPHA:3163)
Gene: PIK3R1
Phenotype: Abnormal mandible morphology (HP:0000277)
Associated disease: Lipodystrophy-Rieger anomaly-diabetes syndrome; SHORT syndrome; Rieger anomaly-partial lipodystrophy syndrome (ORPHA:3163)
Gene: PIK3R1
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: Lipodystrophy-Rieger anomaly-diabetes syndrome; SHORT syndrome; Rieger anomaly-partial lipodystrophy syndrome (ORPHA:3163)
Gene: PIK3R1
Phenotype: Malar flattening (HP:0000272)
Associated disease: Lipodystrophy-Rieger anomaly-diabetes syndrome; SHORT syndrome; Rieger anomaly-partial lipodystrophy syndrome (ORPHA:3163)
Gene: PIK3R1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Clinodactyly (HP:0030084)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3R1
Phenotype: Erythema nodosum (HP:0012219)
Associated disease: AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE (OMIM:615214)
Gene: PIK3R1
Phenotype: Sinusitis (HP:0000246)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3R1
Phenotype: High palate (HP:0000218)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3R1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PIK3R1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PIK3R1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3R1
Phenotype: Failure to thrive (HP:0001508)
Associated disease:  (ORPHA:693681)
Gene: PIK3R1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Abnormal T cell morphology (HP:0002843)
Associated disease: AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE (OMIM:615214)
Gene: PIK3R1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Growth delay (HP:0001510)
Associated disease: IMMUNODEFICIENCY 36 (OMIM:616005)
Gene: PIK3R1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PIK3R1
Phenotype: Fatigue (HP:0012378)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3R1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3R1
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3R1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PIK3R1
Phenotype: Low-set ears (HP:0000369)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PIK3R1
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: Lipodystrophy-Rieger anomaly-diabetes syndrome; SHORT syndrome; Rieger anomaly-partial lipodystrophy syndrome (ORPHA:3163)
Gene: PIK3R1
Phenotype: Micrognathia (HP:0000347)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Lipodystrophy-Rieger anomaly-diabetes syndrome; SHORT syndrome; Rieger anomaly-partial lipodystrophy syndrome (ORPHA:3163)
Gene: PIK3R1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3R1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Short chin (HP:0000331)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Triangular face (HP:0000325)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Triangular face (HP:0000325)
Associated disease: Lipodystrophy-Rieger anomaly-diabetes syndrome; SHORT syndrome; Rieger anomaly-partial lipodystrophy syndrome (ORPHA:3163)
Gene: PIK3R1
Phenotype: Autoimmunity (HP:0002960)
Associated disease:  (ORPHA:693681)
Gene: PIK3R1
Phenotype: Autoimmunity (HP:0002960)
Associated disease: IMMUNODEFICIENCY 36 (OMIM:616005)
Gene: PIK3R1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PIK3R1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Lipodystrophy-Rieger anomaly-diabetes syndrome; SHORT syndrome; Rieger anomaly-partial lipodystrophy syndrome (ORPHA:3163)
Gene: PIK3R1
Phenotype: Combined immunodeficiency (HP:0005387)
Associated disease:  (ORPHA:693681)