TaoMedAI/RareMedData huggingface dataset:
Gene: PHKG2
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: GLYCOGEN STORAGE DISEASE IXc (OMIM:613027)
Gene: PHKG2
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Irregular menstruation (HP:0000858)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Growth delay (HP:0001510)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Growth delay (HP:0001510)
Associated disease: GLYCOGEN STORAGE DISEASE IXc (OMIM:613027)
Gene: PHKG2
Phenotype: Fatigue (HP:0012378)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Portal fibrosis (HP:0006580)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Increased hepatic glycogen content (HP:0006568)
Associated disease: GLYCOGEN STORAGE DISEASE IXc (OMIM:613027)
Gene: PHKG2
Phenotype: Myoglobinuria (HP:0002913)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: GLYCOGEN STORAGE DISEASE IXc (OMIM:613027)
Gene: PHKG2
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Increased sarcoplasmic glycogen (HP:0030232)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Abnormal erythrocyte enzyme concentration or activity (HP:0030272)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: GLYCOGEN STORAGE DISEASE IXc (OMIM:613027)
Gene: PHYH
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PHYH
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PHYH
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PHYH
Phenotype: Hypotonia (HP:0001252)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PHYH
Phenotype: Ataxia (HP:0001251)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PHYH
Phenotype: Ataxia (HP:0001251)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PHYH
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PHYH
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PHYH
Phenotype: Multiple epiphyseal dysplasia (HP:0002654)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PHYH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PHYH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PHYH
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PHYH
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PHYH
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PHYH
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PHYH
Phenotype: Short fourth metatarsal (HP:0004689)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PHYH
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PHYH
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PHYH
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PHYH
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PHYH
Phenotype: Elevated circulating phytanic acid concentration (HP:0010571)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PHYH
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PHYH
Phenotype: Developmental regression (HP:0002376)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PHYH
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PHYH
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PHYH
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PHYH
Phenotype: Nystagmus (HP:0000639)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PHYH
Phenotype: Nystagmus (HP:0000639)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PHYH
Phenotype: Miosis (HP:0000616)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PHYH
Phenotype: Miosis (HP:0000616)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PHYH
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PHYH
Phenotype: Short metacarpal (HP:0010049)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PHYH
Phenotype: Nyctalopia (HP:0000662)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PHYH
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PHYH
Phenotype: Nyctalopia (HP:0000662)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PHYH
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PHYH
Phenotype: Heart block (HP:0012722)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PHYH
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PHYH
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PHYH
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PHYH
Phenotype: Reduced phytanic acid oxidase activity in cultured fibroblasts (HP:4000163)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PHYH
Phenotype: Dry skin (HP:0000958)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PHYH
Phenotype: Ichthyosis (HP:0008064)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PHYH
Phenotype: Ichthyosis (HP:0008064)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PHYH
Phenotype: Arrhythmia (HP:0011675)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PHYH
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PHYH
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PHYH
Phenotype: Abnormal renal physiology (HP:0012211)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PHYH
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PHYH
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PHYH
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PHYH
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PHYH
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PHYH
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PHYH
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PHYH
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PHYH
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PHYH
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PHYH
Phenotype: Retinopathy (HP:0000488)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PHYH
Phenotype: Anosmia (HP:0000458)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PHYH
Phenotype: Anosmia (HP:0000458)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PHYH
Phenotype: Hammertoe (HP:0001765)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)