TaoMedAI/RareMedData huggingface dataset:
Gene: ACOX1
Phenotype: Hypertonia (HP:0001276)
Associated disease: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (OMIM:264470)
Gene: ACOX1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Pseudoadrenoleukodystrophy; Pseudo-neonatal adrenoleukodystrophy; Peroxisomal acyl-CoA oxidase deficiency; Pseudo-NALD (ORPHA:2971)
Gene: ACOX1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: MITCHELL SYNDROME (OMIM:618960)
Gene: ACOX1
Phenotype: Seizure (HP:0001250)
Associated disease: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (OMIM:264470)
Gene: ACOX1
Phenotype: Seizure (HP:0001250)
Associated disease: Pseudoadrenoleukodystrophy; Pseudo-neonatal adrenoleukodystrophy; Peroxisomal acyl-CoA oxidase deficiency; Pseudo-NALD (ORPHA:2971)
Gene: ACOX1
Phenotype: Seizure (HP:0001250)
Associated disease: MITCHELL SYNDROME (OMIM:618960)
Gene: ACOX1
Phenotype: Hypotonia (HP:0001252)
Associated disease: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (OMIM:264470)
Gene: ACOX1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Pseudoadrenoleukodystrophy; Pseudo-neonatal adrenoleukodystrophy; Peroxisomal acyl-CoA oxidase deficiency; Pseudo-NALD (ORPHA:2971)
Gene: ACOX1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Pseudoadrenoleukodystrophy; Pseudo-neonatal adrenoleukodystrophy; Peroxisomal acyl-CoA oxidase deficiency; Pseudo-NALD (ORPHA:2971)
Gene: ACOX1
Phenotype: No social interaction (HP:0008763)
Associated disease: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (OMIM:264470)
Gene: ACOX1
Phenotype: Areflexia of lower limbs (HP:0002522)
Associated disease: MITCHELL SYNDROME (OMIM:618960)
Gene: ACOX1
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: MITCHELL SYNDROME (OMIM:618960)
Gene: ACOX1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Pseudoadrenoleukodystrophy; Pseudo-neonatal adrenoleukodystrophy; Peroxisomal acyl-CoA oxidase deficiency; Pseudo-NALD (ORPHA:2971)
Gene: ACOX1
Phenotype: Dystonia (HP:0001332)
Associated disease: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (OMIM:264470)
Gene: ACOX1
Phenotype: Absent speech (HP:0001344)
Associated disease: MITCHELL SYNDROME (OMIM:618960)
Gene: ACOX1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (OMIM:264470)
Gene: ACOX1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MITCHELL SYNDROME (OMIM:618960)
Gene: ACOX1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (OMIM:264470)
Gene: ACOX1
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: MITCHELL SYNDROME (OMIM:618960)
Gene: ACOX1
Phenotype: Dysphagia (HP:0002015)
Associated disease: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (OMIM:264470)
Gene: ACOX1
Phenotype: Dysphagia (HP:0002015)
Associated disease: MITCHELL SYNDROME (OMIM:618960)
Gene: ACOX1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (OMIM:264470)
Gene: ACOX1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Pseudoadrenoleukodystrophy; Pseudo-neonatal adrenoleukodystrophy; Peroxisomal acyl-CoA oxidase deficiency; Pseudo-NALD (ORPHA:2971)
Gene: ACOX1
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: MITCHELL SYNDROME (OMIM:618960)
Gene: ACOX1
Phenotype: Very long chain fatty acid accumulation (HP:0008167)
Associated disease: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (OMIM:264470)
Gene: ACOX1
Phenotype: Babinski sign (HP:0003487)
Associated disease: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (OMIM:264470)
Gene: ACOX1
Phenotype: Reduced circulating acyl-CoA oxidase activity (HP:6000217)
Associated disease: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (OMIM:264470)
Gene: ACOX1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Pseudoadrenoleukodystrophy; Pseudo-neonatal adrenoleukodystrophy; Peroxisomal acyl-CoA oxidase deficiency; Pseudo-NALD (ORPHA:2971)
Gene: ACOX1
Phenotype: Infantile onset (HP:0003593)
Associated disease: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (OMIM:264470)
Gene: ACOX1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Pseudoadrenoleukodystrophy; Pseudo-neonatal adrenoleukodystrophy; Peroxisomal acyl-CoA oxidase deficiency; Pseudo-NALD (ORPHA:2971)
Gene: ACOX1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (OMIM:264470)
Gene: ACOX1
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: MITCHELL SYNDROME (OMIM:618960)
Gene: ACOX1
Phenotype: Developmental regression (HP:0002376)
Associated disease: Pseudoadrenoleukodystrophy; Pseudo-neonatal adrenoleukodystrophy; Peroxisomal acyl-CoA oxidase deficiency; Pseudo-NALD (ORPHA:2971)
Gene: ACOX1
Phenotype: Developmental regression (HP:0002376)
Associated disease: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (OMIM:264470)
Gene: ACOX1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Pseudoadrenoleukodystrophy; Pseudo-neonatal adrenoleukodystrophy; Peroxisomal acyl-CoA oxidase deficiency; Pseudo-NALD (ORPHA:2971)
Gene: ACOX1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (OMIM:264470)
Gene: ACOX1
Phenotype: Clumsiness (HP:0002312)
Associated disease: MITCHELL SYNDROME (OMIM:618960)
Gene: ACOX1
Phenotype: Intellectual disability, progressive (HP:0006887)
Associated disease: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (OMIM:264470)
Gene: ACOX1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Pseudoadrenoleukodystrophy; Pseudo-neonatal adrenoleukodystrophy; Peroxisomal acyl-CoA oxidase deficiency; Pseudo-NALD (ORPHA:2971)
Gene: ACOX1
Phenotype: Nystagmus (HP:0000639)
Associated disease: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (OMIM:264470)
Gene: ACOX1
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: Pseudoadrenoleukodystrophy; Pseudo-neonatal adrenoleukodystrophy; Peroxisomal acyl-CoA oxidase deficiency; Pseudo-NALD (ORPHA:2971)
Gene: ACOX1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Pseudoadrenoleukodystrophy; Pseudo-neonatal adrenoleukodystrophy; Peroxisomal acyl-CoA oxidase deficiency; Pseudo-NALD (ORPHA:2971)
Gene: ACOX1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (OMIM:264470)
Gene: ACOX1
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: Pseudoadrenoleukodystrophy; Pseudo-neonatal adrenoleukodystrophy; Peroxisomal acyl-CoA oxidase deficiency; Pseudo-NALD (ORPHA:2971)
Gene: ACOX1
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (OMIM:264470)
Gene: ACOX1
Phenotype: Decreased light- and dark-adapted electroretinogram amplitude (HP:0000654)
Associated disease: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (OMIM:264470)
Gene: ACOX1
Phenotype: Abnormal nervous system morphology (HP:0012639)
Associated disease: Pseudoadrenoleukodystrophy; Pseudo-neonatal adrenoleukodystrophy; Peroxisomal acyl-CoA oxidase deficiency; Pseudo-NALD (ORPHA:2971)
Gene: ACOX1
Phenotype: Hypodontia (HP:0000668)
Associated disease: Pseudoadrenoleukodystrophy; Pseudo-neonatal adrenoleukodystrophy; Peroxisomal acyl-CoA oxidase deficiency; Pseudo-NALD (ORPHA:2971)
Gene: ACOX1
Phenotype: Irritability (HP:0000737)
Associated disease: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (OMIM:264470)
Gene: ACOX1
Phenotype: Inverted nipples (HP:0003186)
Associated disease: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (OMIM:264470)
Gene: ACOX1
Phenotype: Epicanthus (HP:0000286)
Associated disease: Pseudoadrenoleukodystrophy; Pseudo-neonatal adrenoleukodystrophy; Peroxisomal acyl-CoA oxidase deficiency; Pseudo-NALD (ORPHA:2971)
Gene: ACOX1
Phenotype: Epicanthus (HP:0000286)
Associated disease: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (OMIM:264470)
Gene: ACOX1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (OMIM:264470)
Gene: ACOX1
Phenotype: Death in infancy (HP:0001522)
Associated disease: Pseudoadrenoleukodystrophy; Pseudo-neonatal adrenoleukodystrophy; Peroxisomal acyl-CoA oxidase deficiency; Pseudo-NALD (ORPHA:2971)
Gene: ACOX1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Pseudoadrenoleukodystrophy; Pseudo-neonatal adrenoleukodystrophy; Peroxisomal acyl-CoA oxidase deficiency; Pseudo-NALD (ORPHA:2971)
Gene: ACOX1
Phenotype: Hyporeflexia of upper limbs (HP:0012391)
Associated disease: MITCHELL SYNDROME (OMIM:618960)
Gene: ACOX1
Phenotype: Diffuse hepatic steatosis (HP:0006555)
Associated disease: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (OMIM:264470)
Gene: ACOX1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (OMIM:264470)
Gene: ACOX1
Phenotype: Low-set ears (HP:0000369)
Associated disease: Pseudoadrenoleukodystrophy; Pseudo-neonatal adrenoleukodystrophy; Peroxisomal acyl-CoA oxidase deficiency; Pseudo-NALD (ORPHA:2971)
Gene: ACOX1
Phenotype: Low-set ears (HP:0000369)
Associated disease: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (OMIM:264470)
Gene: ACOX1
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: MITCHELL SYNDROME (OMIM:618960)
Gene: ACOX1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Pseudoadrenoleukodystrophy; Pseudo-neonatal adrenoleukodystrophy; Peroxisomal acyl-CoA oxidase deficiency; Pseudo-NALD (ORPHA:2971)
Gene: ACOX1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (OMIM:264470)
Gene: ACOX1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Pseudoadrenoleukodystrophy; Pseudo-neonatal adrenoleukodystrophy; Peroxisomal acyl-CoA oxidase deficiency; Pseudo-NALD (ORPHA:2971)
Gene: ACOX1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Pseudoadrenoleukodystrophy; Pseudo-neonatal adrenoleukodystrophy; Peroxisomal acyl-CoA oxidase deficiency; Pseudo-NALD (ORPHA:2971)
Gene: ACOX1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (OMIM:264470)
Gene: ACOX1
Phenotype: Strabismus (HP:0000486)
Associated disease: Pseudoadrenoleukodystrophy; Pseudo-neonatal adrenoleukodystrophy; Peroxisomal acyl-CoA oxidase deficiency; Pseudo-NALD (ORPHA:2971)
Gene: ACOX1
Phenotype: Strabismus (HP:0000486)
Associated disease: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (OMIM:264470)
Gene: ACOX1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (OMIM:264470)
Gene: ACOX1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (OMIM:264470)
Gene: ACOX1
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Pseudoadrenoleukodystrophy; Pseudo-neonatal adrenoleukodystrophy; Peroxisomal acyl-CoA oxidase deficiency; Pseudo-NALD (ORPHA:2971)
Gene: ACOX1
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (OMIM:264470)
Gene: ACOX1
Phenotype: Myopia (HP:0000545)
Associated disease: Pseudoadrenoleukodystrophy; Pseudo-neonatal adrenoleukodystrophy; Peroxisomal acyl-CoA oxidase deficiency; Pseudo-NALD (ORPHA:2971)
Gene: ACP5
Phenotype: Progressive spastic quadriplegia (HP:0002478)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Granuloma (HP:0032252)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACP5
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACP5
Phenotype: Motor delay (HP:0001270)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Seizure (HP:0001250)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Spastic diplegia (HP:0001264)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Spasticity (HP:0001257)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Spasticity (HP:0001257)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Short iliac bones (HP:0100866)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACP5
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Proteinuria (HP:0000093)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Rheumatoid arthritis (HP:0001370)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Arthritis (HP:0001369)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Joint swelling (HP:0001386)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACP5
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Hypopigmented skin patches on arms (HP:0007526)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACP5
Phenotype: Spondylometaphyseal dysplasia (HP:0002657)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACP5
Phenotype: Vasculitis (HP:0002633)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACP5
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACP5
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Hepatitis (HP:0012115)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Recurrent infections (HP:0002719)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Systemic lupus erythematosus (HP:0002725)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Systemic lupus erythematosus (HP:0002725)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Myalgia (HP:0003326)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Frontal bossing (HP:0002007)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Irregular vertebral endplates (HP:0003301)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Midface retrusion (HP:0011800)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Midface retrusion (HP:0011800)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Pneumonia (HP:0002090)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Pneumonia (HP:0002090)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Chorea (HP:0002072)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACP5
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Congenital onset (HP:0003577)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Disproportionate short-trunk short stature (HP:0003521)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Vitiligo (HP:0001045)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Vitiligo (HP:0001045)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Metaphyseal sclerosis (HP:0004979)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACP5
Phenotype: Headache (HP:0002315)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACP5
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACP5
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Gene: ACP5
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACP5
Phenotype: Anti-dsDNA antibody positivity (HP:0020151)
Associated disease: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes; Spondyloenchondrodysplasia (ORPHA:1855)
Gene: ACP5
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)