TaoMedAI/RareMedData huggingface dataset:
Gene: SLC25A1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC (OMIM:618197)
Gene: SLC25A1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:615182)
Gene: SLC25A1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC (OMIM:618197)
Gene: SLC25A1
Phenotype: Waddling gait (HP:0002515)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC (OMIM:618197)
Gene: SLC25A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:615182)
Gene: SLC25A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC (OMIM:618197)
Gene: SLC25A1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:615182)
Gene: SLC25A1
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC (OMIM:618197)
Gene: SLC25A1
Phenotype: Staring gaze (HP:0025401)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Poor suck (HP:0002033)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC (OMIM:618197)
Gene: SLC25A1
Phenotype: Poor suck (HP:0002033)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Frontalis muscle weakness (HP:0004661)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Respiratory arrest (HP:0005943)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Dyspnea (HP:0002094)
Associated disease: COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:615182)
Gene: SLC25A1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:615182)
Gene: SLC25A1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC (OMIM:618197)
Gene: SLC25A1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Fatigable weakness (HP:0003473)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC (OMIM:618197)
Gene: SLC25A1
Phenotype: Fatigable weakness (HP:0003473)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:615182)
Gene: SLC25A1
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Elevated CSF D-2-hydroxyglutaric acid concentration (HP:6000246)
Associated disease: COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:615182)
Gene: SLC25A1
Phenotype: Central sleep apnea (HP:0010536)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC (OMIM:618197)
Gene: SLC25A1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:615182)
Gene: SLC25A1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:615182)
Gene: SLC25A1
Phenotype: Episodic respiratory distress (HP:0004885)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Intermittent episodes of respiratory insufficiency due to muscle weakness (HP:0004889)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:615182)
Gene: SLC25A1
Phenotype: EEG with polyspike wave complexes (HP:0002392)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Frequent falls (HP:0002359)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC (OMIM:618197)
Gene: SLC25A1
Phenotype: Neuropathic spinal arthropathy (HP:0008443)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC (OMIM:618197)
Gene: SLC25A1
Phenotype: Motor polyneuropathy (HP:0007178)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:615182)
Gene: SLC25A1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Diplopia (HP:0000651)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC (OMIM:618197)
Gene: SLC25A1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Irritability (HP:0000737)
Associated disease: COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:615182)
Gene: SLC25A1
Phenotype: Nasal regurgitation (HP:0011469)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Narrow jaw (HP:0012801)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:615182)
Gene: SLC25A1
Phenotype: Increased urine succinate level (HP:0033092)
Associated disease: COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:615182)
Gene: SLC25A1
Phenotype: Choking episodes (HP:0030842)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Stridor (HP:0010307)
Associated disease: COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:615182)
Gene: SLC25A1
Phenotype: Stridor (HP:0010307)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: EMG: impaired neuromuscular transmission (HP:0100285)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Cyanosis (HP:0000961)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: L-2-hydroxyglutaric aciduria (HP:0040144)
Associated disease: COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:615182)
Gene: SLC25A1
Phenotype: Muscle fiber atrophy (HP:0100295)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:615182)
Gene: SLC25A1
Phenotype: Long face (HP:0000276)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Microcephaly (HP:0000252)
Associated disease: COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:615182)
Gene: SLC25A1
Phenotype: Sudden episodic apnea (HP:0002882)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: High palate (HP:0000218)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Apneic episodes precipitated by illness, fatigue, stress (HP:0002872)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Increased jitter at single fiber EMG (HP:0030205)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC (OMIM:618197)
Gene: SLC25A1
Phenotype: Anti-neuromuscular Junction acetylcholine receptor antibody positivity (HP:0030208)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Dysphonia (HP:0001618)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Weak cry (HP:0001612)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Low-set ears (HP:0000369)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Microretrognathia (HP:0000308)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Delayed myelination (HP:0012448)
Associated disease: COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:615182)
Gene: SLC25A1
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC (OMIM:618197)
Gene: SLC25A1
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Increased urine alpha-ketoglutarate concentration (HP:0012402)
Associated disease: COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:615182)
Gene: SLC25A1
Phenotype: Pes cavus (HP:0001761)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC (OMIM:618197)
Gene: SLC25A1
Phenotype: Pes cavus (HP:0001761)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Ptosis (HP:0000508)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Ptosis (HP:0000508)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC (OMIM:618197)
Gene: SLC25A1
Phenotype: Esotropia (HP:0000565)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLCO2A1
Phenotype: Avascular necrosis (HP:0010885)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: SLCO2A1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO2A1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO2A1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: SLCO2A1
Phenotype: Clubbing (HP:0001217)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2 (OMIM:614441)
Gene: SLCO2A1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO2A1
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: SLCO2A1
Phenotype: Arthritis (HP:0001369)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: SLCO2A1
Phenotype: Joint swelling (HP:0001386)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: SLCO2A1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO2A1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO2A1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2 (OMIM:614441)
Gene: SLCO2A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT (OMIM:167100)
Gene: SLCO2A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO2A1
Phenotype: Bone pain (HP:0002653)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: SLCO2A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: SLCO2A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO2A1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO2A1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Osteolysis (HP:0002797)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: SLCO2A1
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: SLCO2A1
Phenotype: Malabsorption (HP:0002024)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: SLCO2A1
Phenotype: Neoplasm of the lung (HP:0100526)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: SLCO2A1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO2A1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: SLCO2A1
Phenotype: Cutis gyrata of scalp (HP:0010541)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT (OMIM:167100)
Gene: SLCO2A1
Phenotype: Cutis gyrata of scalp (HP:0010541)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: SLCO2A1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: SLCO2A1
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: SLCO2A1
Phenotype: Abnormal hair pattern (HP:0010720)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: SLCO2A1
Phenotype: Hyperostosis (HP:0100774)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2 (OMIM:614441)
Gene: SLCO2A1
Phenotype: Clubbing of toes (HP:0100760)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: SLCO2A1
Phenotype: Clubbing of fingers (HP:0100759)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT (OMIM:167100)
Gene: SLCO2A1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Seborrheic dermatitis (HP:0001051)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2 (OMIM:614441)
Gene: SLCO2A1
Phenotype: Seborrheic dermatitis (HP:0001051)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT (OMIM:167100)
Gene: SLCO2A1
Phenotype: Seborrheic dermatitis (HP:0001051)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: SLCO2A1
Phenotype: Acne (HP:0001061)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2 (OMIM:614441)
Gene: SLCO2A1
Phenotype: Acne (HP:0001061)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT (OMIM:167100)
Gene: SLCO2A1
Phenotype: Acne (HP:0001061)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: SLCO2A1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO2A1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Impaired temperature sensation (HP:0010829)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: SLCO2A1
Phenotype: Thickened skin (HP:0001072)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2 (OMIM:614441)
Gene: SLCO2A1
Phenotype: Thickened skin (HP:0001072)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT (OMIM:167100)
Gene: SLCO2A1
Phenotype: Thickened skin (HP:0001072)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: SLCO2A1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Small hand (HP:0200055)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: SLCO2A1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO2A1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO2A1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2 (OMIM:614441)
Gene: SLCO2A1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO2A1
Phenotype: Elevated urinary prostaglandin E2 level (HP:0034049)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT (OMIM:167100)
Gene: SLCO2A1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Abnormal bone marrow cell morphology (HP:0005561)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: SLCO2A1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO2A1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO2A1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO2A1
Phenotype: Anemia (HP:0001903)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: SLCO2A1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Abnormal hair quantity (HP:0011362)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: SLCO2A1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO2A1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2 (OMIM:614441)
Gene: SLCO2A1
Phenotype: Peptic ulcer (HP:0004398)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: SLCO2A1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO2A1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO2A1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)