TaoMedAI/RareMedData huggingface dataset:
Gene: NPM1
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NPM1
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NPM1
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NPM1
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NPM1
Phenotype: Ecchymosis (HP:0031364)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NPM1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NPM1
Phenotype: Fatigue (HP:0012378)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NPM1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NPM1
Phenotype: Oral cavity bleeding (HP:0030140)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NPM1
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NPM1
Phenotype: Abnormal eyelash morphology (HP:0000499)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NPM1
Phenotype: Blepharitis (HP:0000498)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NPM1
Phenotype: Cellular immunodeficiency (HP:0005374)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NPM1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NPM1
Phenotype: Epistaxis (HP:0000421)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NPM1
Phenotype: Cataract (HP:0000518)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NPM1
Phenotype: Weight loss (HP:0001824)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NPM1
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NPM1
Phenotype: Abnormal eyebrow morphology (HP:0000534)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NPM1
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NPM1
Phenotype: Abnormality of neutrophils (HP:0001874)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NPM1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NPM1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NPM1
Phenotype: Pancytopenia (HP:0001876)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NPM1
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NPPA
Phenotype: Increased circulating troponin T concentration (HP:0410174)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: NPPA
Phenotype: Stroke (HP:0001297)
Associated disease: ATRIAL STANDSTILL 2 (OMIM:615745)
Gene: NPPA
Phenotype: Syncope (HP:0001279)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: NPPA
Phenotype: Syncope (HP:0001279)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: NPPA
Phenotype: Dysarthria (HP:0001260)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: NPPA
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: NPPA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ATRIAL STANDSTILL 2 (OMIM:615745)
Gene: NPPA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: NPPA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 6 (OMIM:612201)
Gene: NPPA
Phenotype: Vascular dilatation (HP:0002617)
Associated disease: ATRIAL STANDSTILL 2 (OMIM:615745)
Gene: NPPA
Phenotype: Atrial standstill (HP:0025478)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: NPPA
Phenotype: Atrial standstill (HP:0025478)
Associated disease: ATRIAL STANDSTILL 2 (OMIM:615745)
Gene: NPPA
Phenotype: Left atrial enlargement (HP:0031295)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 6 (OMIM:612201)
Gene: NPPA
Phenotype: Postexertional symptom exacerbation (HP:0030973)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: NPPA
Phenotype: Nausea (HP:0002018)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: NPPA
Phenotype: Dyspnea (HP:0002094)
Associated disease: ATRIAL STANDSTILL 2 (OMIM:615745)
Gene: NPPA
Phenotype: Dyspnea (HP:0002094)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: NPPA
Phenotype: Dyspnea (HP:0002094)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: NPPA
Phenotype: Absent P wave (HP:0033122)
Associated disease: ATRIAL STANDSTILL 2 (OMIM:615745)
Gene: NPPA
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: NPPA
Phenotype: Sick sinus syndrome (HP:0011704)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: NPPA
Phenotype: Mobitz I atrioventricular block (HP:0011707)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: NPPA
Phenotype: Ischemic stroke (HP:0002140)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: NPPA
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: NPPA
Phenotype: Middle age onset (HP:0003596)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 6 (OMIM:612201)
Gene: NPPA
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: NPPA
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: NPPA
Phenotype: Atrial cardiomyopathy (HP:0200127)
Associated disease: ATRIAL STANDSTILL 2 (OMIM:615745)
Gene: NPPA
Phenotype: Chest pain (HP:0100749)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: NPPA
Phenotype: Aphasia (HP:0002381)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: NPPA
Phenotype: Vertigo (HP:0002321)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: NPPA
Phenotype: Vertigo (HP:0002321)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: NPPA
Phenotype: Headache (HP:0002315)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: NPPA
Phenotype: Scarring (HP:0100699)
Associated disease: ATRIAL STANDSTILL 2 (OMIM:615745)
Gene: NPPA
Phenotype: Hemiplegia (HP:0002301)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: NPPA
Phenotype: Palpitations (HP:0001962)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: NPPA
Phenotype: Palpitations (HP:0001962)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: NPPA
Phenotype: Palpitations (HP:0001962)
Associated disease: ATRIAL STANDSTILL 2 (OMIM:615745)
Gene: NPPA
Phenotype: Thromboembolism (HP:0001907)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: NPPA
Phenotype: Thromboembolism (HP:0001907)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: NPPA
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 6 (OMIM:612201)
Gene: NPPA
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: NPPA
Phenotype: Left ventricular noncompaction (HP:0030682)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: NPPA
Phenotype: Young adult onset (HP:0011462)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 6 (OMIM:612201)
Gene: NPPA
Phenotype: Hyperpepsinogenemia I (HP:0003238)
Associated disease: ATRIAL STANDSTILL 2 (OMIM:615745)
Gene: NPPA
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: NPPA
Phenotype: Elevated left ventricular end-diastolic diameter (HP:0034307)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 6 (OMIM:612201)
Gene: NPPA
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: NPPA
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: NPPA
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 6 (OMIM:612201)
Gene: NPPA
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: NPPA
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: NPPA
Phenotype: Fatigue (HP:0012378)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: NPPA
Phenotype: Ventricular escape rhythm (HP:0005155)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: NPPA
Phenotype: Atrial arrhythmia (HP:0001692)
Associated disease: ATRIAL STANDSTILL 2 (OMIM:615745)
Gene: NPPA
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: NPPA
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: NPPA
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: NPPA
Phenotype: Bradycardia (HP:0001662)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: NPPA
Phenotype: Bradycardia (HP:0001662)
Associated disease: ATRIAL STANDSTILL 2 (OMIM:615745)
Gene: NPPA
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: NPPA
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: NPPA
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: NPPA
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: ATRIAL STANDSTILL 2 (OMIM:615745)
Gene: NPPA
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: NPPA
Phenotype: Aborted sudden cardiac death (HP:0031628)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: NPPA
Phenotype: Polymorphic and polytopic ventricular extrasystoles (HP:0006696)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: NPPA
Phenotype: Dilatation of the ventricular cavity (HP:0006698)
Associated disease: ATRIAL STANDSTILL 2 (OMIM:615745)
Gene: NPPA
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: NPPA
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 6 (OMIM:612201)
Gene: NPPA
Phenotype: Cardiac conduction abnormality (HP:0031546)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: NPPA
Phenotype: Abnormal P wave (HP:0031595)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: NPPC
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NPPC
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NPPC
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NPPC
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NPPC
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NPPC
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NPPC
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NPPC
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NPPC
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NPPC
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NPPC
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NPPC
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NPPC
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NPPC
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NPPC
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NPPC
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NPPC
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NPPC
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NPPC
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NPPC
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NPPC
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NPPC
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NPPC
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NPPC
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NPPC
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NPPC
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NPPC
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NPPC
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NPPC
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NPPC
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)