TaoMedAI/RareMedData huggingface dataset:
Gene: POLE
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY (OMIM:618336)
Gene: POLE
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE (OMIM:615139)
Gene: POLE
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: POLE
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: POLE
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 (OMIM:615083)
Gene: POLE
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLE
Phenotype: Bone pain (HP:0002653)
Associated disease: FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE (OMIM:615139)
Gene: POLE
Phenotype: Scoliosis (HP:0002650)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY (OMIM:618336)
Gene: POLE
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLE
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLE
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: T-cell lymphoma (HP:0012190)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY (OMIM:618336)
Gene: POLE
Phenotype: Hodgkin lymphoma (HP:0012189)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY (OMIM:618336)
Gene: POLE
Phenotype: Glioblastoma multiforme (HP:0012174)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: POLE
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Stomach cancer (HP:0012126)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: POLE
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome; IMAGe syndrome (ORPHA:85173)
Gene: POLE
Phenotype: Endometrial carcinoma (HP:0012114)
Associated disease: Polymerase proofreading-related adenomatous polyposis; PPAP (ORPHA:447877)
Gene: POLE
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE (OMIM:615139)
Gene: POLE
Phenotype: Abnormal circulating creatine concentration (HP:0012113)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: POLE
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE (OMIM:615139)
Gene: POLE
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome; IMAGe syndrome (ORPHA:85173)
Gene: POLE
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: POLE
Phenotype: Recurrent infections (HP:0002719)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY (OMIM:618336)
Gene: POLE
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE (OMIM:615139)
Gene: POLE
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY (OMIM:618336)
Gene: POLE
Phenotype: Malabsorption (HP:0002024)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: POLE
Phenotype: Constipation (HP:0002019)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: POLE
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: POLE
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: POLE
Phenotype: Abdominal pain (HP:0002027)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: POLE
Phenotype: Abdominal pain (HP:0002027)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: POLE
Phenotype: Diarrhea (HP:0002014)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: POLE
Phenotype: Frontal bossing (HP:0002007)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY (OMIM:618336)
Gene: POLE
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome; IMAGe syndrome (ORPHA:85173)
Gene: POLE
Phenotype: Migraine (HP:0002076)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: POLE
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLE
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Cardiac diverticulum (HP:0100571)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: POLE
Phenotype: Amaurosis fugax (HP:0100576)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: POLE
Phenotype: Adenocarcinoma of the colon (HP:0040276)
Associated disease: Polymerase proofreading-related adenomatous polyposis; PPAP (ORPHA:447877)
Gene: POLE
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE (OMIM:615139)
Gene: POLE
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: POLE
Phenotype: Congenital adrenal hypoplasia (HP:0008244)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY (OMIM:618336)
Gene: POLE
Phenotype: Dysgraphia (HP:0010526)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: POLE
Phenotype: Disturbed sensory perception (HP:0010524)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: POLE
Phenotype: Paresthesia (HP:0003401)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: POLE
Phenotype: Infantile onset (HP:0003593)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY (OMIM:618336)
Gene: POLE
Phenotype: Congenital onset (HP:0003577)
Associated disease: FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE (OMIM:615139)
Gene: POLE
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: POLE
Phenotype: Adult onset (HP:0003581)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY (OMIM:618336)
Gene: POLE
Phenotype: Adult onset (HP:0003581)
Associated disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 (OMIM:615083)
Gene: POLE
Phenotype: Renal neoplasm (HP:0009726)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: POLE
Phenotype: Neoplasm of the rectum (HP:0100743)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: POLE
Phenotype: Neoplasm of the rectum (HP:0100743)
Associated disease: Polymerase proofreading-related adenomatous polyposis; PPAP (ORPHA:447877)
Gene: POLE
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: POLE
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY (OMIM:618336)
Gene: POLE
Phenotype: Neoplasm of the skeletal system (HP:0010622)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: POLE
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Severe short stature (HP:0003510)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY (OMIM:618336)
Gene: POLE
Phenotype: Developmental regression (HP:0002376)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: POLE
Phenotype: Memory impairment (HP:0002354)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: POLE
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLE
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Dyskinesia (HP:0100660)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: POLE
Phenotype: Colorectal polyposis (HP:0200063)
Associated disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 (OMIM:615083)
Gene: POLE
Phenotype: Colorectal polyposis (HP:0200063)
Associated disease: Polymerase proofreading-related adenomatous polyposis; PPAP (ORPHA:447877)
Gene: POLE
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: POLE
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Urinary tract neoplasm (HP:0010786)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: POLE
Phenotype: Uterine neoplasm (HP:0010784)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: POLE
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLE
Phenotype: Neonatal onset (HP:0003623)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY (OMIM:618336)
Gene: POLE
Phenotype: Juvenile onset (HP:0003621)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY (OMIM:618336)
Gene: POLE
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLE
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLE
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLE
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLE
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Anemia (HP:0001903)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: POLE
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLE
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLE
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Decreased body weight (HP:0004325)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY (OMIM:618336)
Gene: POLE
Phenotype: Short stature (HP:0004322)
Associated disease: FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE (OMIM:615139)
Gene: POLE
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: Polymerase proofreading-related adenomatous polyposis; PPAP (ORPHA:447877)
Gene: POLE
Phenotype: Colon cancer (HP:0003003)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: POLE
Phenotype: Colon cancer (HP:0003003)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: POLE
Phenotype: Brain neoplasm (HP:0030692)
Associated disease: Polymerase proofreading-related adenomatous polyposis; PPAP (ORPHA:447877)
Gene: POLE
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: POLE
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLE
Phenotype: Multiple gastric polyps (HP:0004394)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: POLE
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLE
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: POLE
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: POLE
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Neoplasm of the breast (HP:0100013)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: POLE
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Neoplasm of the thyroid gland (HP:0100031)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: POLE
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Hallucinations (HP:0000738)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: POLE
Phenotype: Irritability (HP:0000737)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: POLE
Phenotype: Anxiety (HP:0000739)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: POLE
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Depression (HP:0000716)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: POLE
Phenotype: Atypical behavior (HP:0000708)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: POLE
Phenotype: Childhood onset (HP:0011463)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY (OMIM:618336)
Gene: POLE
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Carcinoma (HP:0030731)
Associated disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 (OMIM:615083)
Gene: POLE
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Long nose (HP:0003189)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY (OMIM:618336)
Gene: POLE
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE (OMIM:615139)
Gene: POLE
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY (OMIM:618336)
Gene: POLE
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLE
Phenotype: Adrenal hypoplasia (HP:0000835)
Associated disease: Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome; IMAGe syndrome (ORPHA:85173)
Gene: POLE
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY (OMIM:618336)
Gene: POLE
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLE
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLE
Phenotype: Metaphyseal dysplasia (HP:0100255)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY (OMIM:618336)
Gene: POLE
Phenotype: Metaphyseal dysplasia (HP:0100255)
Associated disease: Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome; IMAGe syndrome (ORPHA:85173)
Gene: POLE
Phenotype: Neoplasm of the colon (HP:0100273)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: POLE
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY (OMIM:618336)
Gene: POLE
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY (OMIM:618336)
Gene: POLE
Phenotype: Osteopenia (HP:0000938)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY (OMIM:618336)
Gene: POLE
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Malar flattening (HP:0000272)
Associated disease: FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE (OMIM:615139)
Gene: POLE
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Clinodactyly (HP:0030084)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY (OMIM:618336)
Gene: POLE
Phenotype: Microcephaly (HP:0000252)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY (OMIM:618336)
Gene: POLE
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: POLE
Phenotype: Pituitary adenoma (HP:0002893)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: POLE
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLE
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLE
Phenotype: Metaphyseal striations (HP:0031367)
Associated disease: FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE (OMIM:615139)
Gene: POLE
Phenotype: Failure to thrive (HP:0001508)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: POLE
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE (OMIM:615139)
Gene: POLE
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY (OMIM:618336)
Gene: POLE
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome; IMAGe syndrome (ORPHA:85173)
Gene: POLE
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLE
Phenotype: Fatigue (HP:0012378)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: POLE
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Adenomatous colonic polyposis (HP:0005227)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: POLE
Phenotype: Adenomatous colonic polyposis (HP:0005227)
Associated disease: Polymerase proofreading-related adenomatous polyposis; PPAP (ORPHA:447877)
Gene: POLE
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Hypokalemia (HP:0002900)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: POLE
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLE
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY (OMIM:618336)
Gene: POLE
Phenotype: Low-set ears (HP:0000369)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY (OMIM:618336)
Gene: POLE
Phenotype: Low-set ears (HP:0000369)
Associated disease: Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome; IMAGe syndrome (ORPHA:85173)
Gene: POLE
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)