TaoMedAI/RareMedData huggingface dataset:
Gene: MRPS2
Phenotype: Poor speech (HP:0002465)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36 (OMIM:617950)
Gene: MRPS2
Phenotype: Hypotonia (HP:0001252)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36 (OMIM:617950)
Gene: MRPS2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36 (OMIM:617950)
Gene: MRPS2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36 (OMIM:617950)
Gene: MRPS2
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36 (OMIM:617950)
Gene: MRPS2
Phenotype: Aciduria (HP:0012072)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36 (OMIM:617950)
Gene: MRPS2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36 (OMIM:617950)
Gene: MRPS2
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36 (OMIM:617950)
Gene: MRPS2
Phenotype: Myalgia (HP:0003326)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36 (OMIM:617950)
Gene: MRPS2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36 (OMIM:617950)
Gene: MRPS2
Phenotype: Infantile onset (HP:0003593)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36 (OMIM:617950)
Gene: MRPS2
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36 (OMIM:617950)
Gene: MRPS2
Phenotype: Exodeviation (HP:0020049)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36 (OMIM:617950)
Gene: MRPS2
Phenotype: Headache (HP:0002315)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36 (OMIM:617950)
Gene: MRPS2
Phenotype: Premature skin wrinkling (HP:0100678)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36 (OMIM:617950)
Gene: MRPS2
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36 (OMIM:617950)
Gene: MRPS2
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36 (OMIM:617950)
Gene: MRPS2
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36 (OMIM:617950)
Gene: MRPS2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36 (OMIM:617950)
Gene: MRPS2
Phenotype: Low-set ears (HP:0000369)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36 (OMIM:617950)
Gene: MRPS2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36 (OMIM:617950)
Gene: MRPS2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36 (OMIM:617950)
Gene: COQ4
Phenotype: Generalized dystonia (HP:0007325)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: 2-hydroxyglutarate aciduria (HP:0032278)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Hypertonia (HP:0001276)
Associated disease: SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE (OMIM:620666)
Gene: COQ4
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE (OMIM:620666)
Gene: COQ4
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Motor delay (HP:0001270)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Areflexia (HP:0001284)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Seizure (HP:0001250)
Associated disease: SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE (OMIM:620666)
Gene: COQ4
Phenotype: Seizure (HP:0001250)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Hypotonia (HP:0001252)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Ataxia (HP:0001251)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE (OMIM:620666)
Gene: COQ4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Spasticity (HP:0001257)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Hippocampal sclerosis (HP:0033715)
Associated disease: SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE (OMIM:620666)
Gene: COQ4
Phenotype: Upper limb hyperreflexia (HP:0007350)
Associated disease: SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE (OMIM:620666)
Gene: COQ4
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE (OMIM:620666)
Gene: COQ4
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Dystonia (HP:0001332)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Muscle weakness (HP:0001324)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE (OMIM:620666)
Gene: COQ4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Dysmetria (HP:0001310)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE (OMIM:620666)
Gene: COQ4
Phenotype: Scoliosis (HP:0002650)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Dysphagia (HP:0002015)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE (OMIM:620666)
Gene: COQ4
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE (OMIM:620666)
Gene: COQ4
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE (OMIM:620666)
Gene: COQ4
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE (OMIM:620666)
Gene: COQ4
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE (OMIM:620666)
Gene: COQ4
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Apnea (HP:0002104)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Decreased activity of mitochondrial complex III (HP:0011924)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Postural tremor (HP:0002174)
Associated disease: SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE (OMIM:620666)
Gene: COQ4
Phenotype: Postural instability (HP:0002172)
Associated disease: SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE (OMIM:620666)
Gene: COQ4
Phenotype: Postural instability (HP:0002172)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Middle age onset (HP:0003596)
Associated disease: SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE (OMIM:620666)
Gene: COQ4
Phenotype: Infantile onset (HP:0003593)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Congenital onset (HP:0003577)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Decreased activity of mitochondrial complex II (HP:0008314)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE (OMIM:620666)
Gene: COQ4
Phenotype: Acrocyanosis (HP:0001063)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Neonatal onset (HP:0003623)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE (OMIM:620666)
Gene: COQ4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Focal hemiclonic seizure (HP:0006813)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Nystagmus (HP:0000639)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Severely reduced left ventricular ejection fraction (HP:0012666)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Upper limb spasticity (HP:0006986)
Associated disease: SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE (OMIM:620666)
Gene: COQ4
Phenotype: Hoffmann sign (HP:0031993)
Associated disease: SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE (OMIM:620666)
Gene: COQ4
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Distal arthrogryposis (HP:0005684)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Caesarean section (HP:0011410)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Elevated brain lactate level by MRS (HP:0012707)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE (OMIM:620666)
Gene: COQ4
Phenotype: Childhood onset (HP:0011463)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE (OMIM:620666)
Gene: COQ4
Phenotype: Fetal onset (HP:0011461)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Knee clonus (HP:0011449)
Associated disease: SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE (OMIM:620666)
Gene: COQ4
Phenotype: Ankle clonus (HP:0011448)
Associated disease: SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE (OMIM:620666)
Gene: COQ4
Phenotype: Myopathy (HP:0003198)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Decreased level of coenzyme Q10 in skeletal muscle (HP:0034369)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Epicanthus (HP:0000286)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Coarse facial features (HP:0000280)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Failure to thrive (HP:0001508)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Moderate to late preterm birth (HP:0025664)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Bradycardia (HP:0001662)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Cerebral infarct (HP:0025722)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Gene: COQ4
Phenotype: Visual impairment (HP:0000505)
Associated disease: SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE (OMIM:620666)
Gene: SBDS
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: SBDS
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: SBDS
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: SBDS
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SBDS
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SBDS
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: SBDS
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SBDS
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SBDS
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: SBDS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SBDS
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: SBDS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SBDS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SBDS
Phenotype: Steatorrhea (HP:0002570)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SBDS
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: SBDS
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: SBDS
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SBDS
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: SBDS
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SBDS
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SBDS
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SBDS
Phenotype: Specific learning disability (HP:0001328)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SBDS
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SBDS
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SBDS
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SBDS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SBDS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SBDS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SBDS
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SBDS
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SBDS
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SBDS
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: SBDS
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SBDS
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SBDS
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SBDS
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SBDS
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: SBDS
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SBDS
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: SBDS
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SBDS
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: SBDS
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Idiopathic aplastic anemia; Idiopathic bone marrow failure (ORPHA:88)
Gene: SBDS
Phenotype: Recurrent infections (HP:0002719)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SBDS
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: SBDS
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: SBDS
Phenotype: Ovoid vertebral bodies (HP:0003300)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SBDS
Phenotype: Respiratory distress (HP:0002098)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SBDS
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: SBDS
Phenotype: Narrow greater sciatic notch (HP:0003375)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SBDS
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SBDS
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: SBDS
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: SBDS
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SBDS
Phenotype: Proximal femoral metaphyseal irregularity (HP:0003411)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SBDS
Phenotype: Persistence of hemoglobin F (HP:0011904)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SBDS
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: SBDS
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SBDS
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: SBDS
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SBDS
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SBDS
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)