TaoMedAI/RareMedData huggingface dataset:
Gene: NADK2
Phenotype: Stress/infection-induced lactic acidosis (HP:0004897)
Associated disease: 2,4-dienoyl-CoA reductase deficiency; DECR deficiency with hyperlysinemia; Progressive encephalopathy with leukodystrophy due to DECR deficiency (ORPHA:431361)
Gene: NADK2
Phenotype: Generalized hyperreflexia (HP:0007034)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Gene: NADK2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Gene: NADK2
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: 2,4-dienoyl-CoA reductase deficiency; DECR deficiency with hyperlysinemia; Progressive encephalopathy with leukodystrophy due to DECR deficiency (ORPHA:431361)
Gene: NADK2
Phenotype: Decreased plasma free carnitine (HP:0008315)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Gene: NADK2
Phenotype: Elevated circulating 2-trans,4-cis-decadienoylcarnitine concentration (HP:6000478)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Gene: NADK2
Phenotype: Incoordination (HP:0002311)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Gene: NADK2
Phenotype: Nystagmus (HP:0000639)
Associated disease: 2,4-dienoyl-CoA reductase deficiency; DECR deficiency with hyperlysinemia; Progressive encephalopathy with leukodystrophy due to DECR deficiency (ORPHA:431361)
Gene: NADK2
Phenotype: Nystagmus (HP:0000639)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Gene: NADK2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Gene: NADK2
Phenotype: Renal tubular acidosis (HP:0001947)
Associated disease: 2,4-dienoyl-CoA reductase deficiency; DECR deficiency with hyperlysinemia; Progressive encephalopathy with leukodystrophy due to DECR deficiency (ORPHA:431361)
Gene: NADK2
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Gene: NADK2
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Gene: NADK2
Phenotype: Organic aciduria (HP:0001992)
Associated disease: 2,4-dienoyl-CoA reductase deficiency; DECR deficiency with hyperlysinemia; Progressive encephalopathy with leukodystrophy due to DECR deficiency (ORPHA:431361)
Gene: NADK2
Phenotype: Third trimester onset (HP:0034197)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Gene: NADK2
Phenotype: Abnormal basal ganglia MRI signal intensity (HP:0012751)
Associated disease: 2,4-dienoyl-CoA reductase deficiency; DECR deficiency with hyperlysinemia; Progressive encephalopathy with leukodystrophy due to DECR deficiency (ORPHA:431361)
Gene: NADK2
Phenotype: Decreased circulating carnitine concentration (HP:0003234)
Associated disease: 2,4-dienoyl-CoA reductase deficiency; DECR deficiency with hyperlysinemia; Progressive encephalopathy with leukodystrophy due to DECR deficiency (ORPHA:431361)
Gene: NADK2
Phenotype: Decreased activity of NADPH oxidase (HP:0003206)
Associated disease: 2,4-dienoyl-CoA reductase deficiency; DECR deficiency with hyperlysinemia; Progressive encephalopathy with leukodystrophy due to DECR deficiency (ORPHA:431361)
Gene: NADK2
Phenotype: Hyperlysinuria (HP:0003297)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Gene: NADK2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Gene: NADK2
Phenotype: Microcephaly (HP:0000252)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Gene: NADK2
Phenotype: Microcephaly (HP:0000252)
Associated disease: 2,4-dienoyl-CoA reductase deficiency; DECR deficiency with hyperlysinemia; Progressive encephalopathy with leukodystrophy due to DECR deficiency (ORPHA:431361)
Gene: NADK2
Phenotype: Death in infancy (HP:0001522)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Gene: NADK2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: 2,4-dienoyl-CoA reductase deficiency; DECR deficiency with hyperlysinemia; Progressive encephalopathy with leukodystrophy due to DECR deficiency (ORPHA:431361)
Gene: NADK2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Gene: NADK2
Phenotype: Colpocephaly (HP:0030048)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Gene: NADK2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Gene: NADK2
Phenotype: Myoclonic absence seizure (HP:0011150)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Gene: NADK2
Phenotype: Pancreatitis (HP:0001733)
Associated disease: 2,4-dienoyl-CoA reductase deficiency; DECR deficiency with hyperlysinemia; Progressive encephalopathy with leukodystrophy due to DECR deficiency (ORPHA:431361)
Gene: NADK2
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Gene: NADK2
Phenotype: Abnormal involuntary eye movements (HP:0012547)
Associated disease: 2,4-dienoyl-CoA reductase deficiency; DECR deficiency with hyperlysinemia; Progressive encephalopathy with leukodystrophy due to DECR deficiency (ORPHA:431361)
Gene: NADK2
Phenotype: Hypermetropia (HP:0000540)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Gene: DNAJC21
Phenotype: Abnormal finger morphology (HP:0001167)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Transiently decreased total neutrophil count (HP:0410255)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Persistently decreased total neutrophil count (HP:0410252)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNAJC21
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNAJC21
Phenotype: Sepsis (HP:0100806)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Motor delay (HP:0001270)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: DNAJC21
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Pancreatic hypoplasia (HP:0002594)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: DNAJC21
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Steatorrhea (HP:0002570)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: DNAJC21
Phenotype: Steatorrhea (HP:0002570)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Hypoamylasemia (HP:0410289)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNAJC21
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Abnormal joint morphology (HP:0001367)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNAJC21
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Specific learning disability (HP:0001328)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: DNAJC21
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNAJC21
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: DNAJC21
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNAJC21
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNAJC21
Phenotype: Pancreatic steatosis (HP:0033757)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: DNAJC21
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Fat malabsorption (HP:0002630)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNAJC21
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Oral ulcer (HP:0000155)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Oral ulcer (HP:0000155)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Hyperechogenic pancreas (HP:0006276)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: DNAJC21
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: DNAJC21
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Recurrent infections (HP:0002719)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: DNAJC21
Phenotype: Recurrent infections (HP:0002719)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Ovoid vertebral bodies (HP:0003300)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: DNAJC21
Phenotype: Respiratory distress (HP:0002098)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: DNAJC21
Phenotype: Pneumonia (HP:0002090)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Narrow greater sciatic notch (HP:0003375)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: DNAJC21
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNAJC21
Phenotype: Decreased circulating vitamin D concentration (HP:0100512)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Decreased circulating vitamin D concentration (HP:0100512)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Decreased circulating vitamin E concentration (HP:0100513)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Decreased circulating vitamin E concentration (HP:0100513)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Proximal femoral metaphyseal irregularity (HP:0003411)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: DNAJC21
Phenotype: Persistence of hemoglobin F (HP:0011904)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Persistence of hemoglobin F (HP:0011904)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: DNAJC21
Phenotype: Decreased circulating vitamin K concentration (HP:0011892)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: DNAJC21
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Hypomelanotic macule (HP:0009719)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Hernia (HP:0100790)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: DNAJC21
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Metaphyseal sclerosis (HP:0004979)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: DNAJC21
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNAJC21
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNAJC21
Phenotype: Neonatal onset (HP:0003623)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNAJC21
Phenotype: Reduced circulating vitamin A concentration (HP:0004905)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNAJC21
Phenotype: Increased mean corpuscular volume (HP:0005518)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Increased mean corpuscular volume (HP:0005518)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNAJC21
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNAJC21
Phenotype: Macrocytic anemia (HP:0001972)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Leukemia (HP:0001909)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Anemia (HP:0001903)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: DNAJC21
Phenotype: Anemia (HP:0001903)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Anemia (HP:0001903)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNAJC21
Phenotype: Aplastic anemia (HP:0001915)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Aplastic anemia (HP:0001915)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Microdontia (HP:0000691)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Carious teeth (HP:0000670)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNAJC21
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Hypodontia (HP:0000668)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Short stature (HP:0004322)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Short stature (HP:0004322)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Short stature (HP:0004322)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: DNAJC21
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNAJC21
Phenotype: Malnutrition (HP:0004395)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNAJC21
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: DNAJC21
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)