TaoMedAI/RareMedData huggingface dataset:
Gene: PDHB
Phenotype: Hypotonia (HP:0001252)
Associated disease: Pyruvate dehydrogenase E1-beta deficiency; PDHBD; Pyruvate dehydrogenase complex E1 component subunit beta deficiency (ORPHA:255138)
Gene: PDHB
Phenotype: Ataxia (HP:0001251)
Associated disease: Pyruvate dehydrogenase E1-beta deficiency; PDHBD; Pyruvate dehydrogenase complex E1 component subunit beta deficiency (ORPHA:255138)
Gene: PDHB
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY (OMIM:614111)
Gene: PDHB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY (OMIM:614111)
Gene: PDHB
Phenotype: Abnormal calvaria morphology (HP:0002683)
Associated disease: Pyruvate dehydrogenase E1-beta deficiency; PDHBD; Pyruvate dehydrogenase complex E1 component subunit beta deficiency (ORPHA:255138)
Gene: PDHB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY (OMIM:614111)
Gene: PDHB
Phenotype: Pachygyria (HP:0001302)
Associated disease: Pyruvate dehydrogenase E1-beta deficiency; PDHBD; Pyruvate dehydrogenase complex E1 component subunit beta deficiency (ORPHA:255138)
Gene: PDHB
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Pyruvate dehydrogenase E1-beta deficiency; PDHBD; Pyruvate dehydrogenase complex E1 component subunit beta deficiency (ORPHA:255138)
Gene: PDHB
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Pyruvate dehydrogenase E1-beta deficiency; PDHBD; Pyruvate dehydrogenase complex E1 component subunit beta deficiency (ORPHA:255138)
Gene: PDHB
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Pyruvate dehydrogenase E1-beta deficiency; PDHBD; Pyruvate dehydrogenase complex E1 component subunit beta deficiency (ORPHA:255138)
Gene: PDHB
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Pyruvate dehydrogenase E1-beta deficiency; PDHBD; Pyruvate dehydrogenase complex E1 component subunit beta deficiency (ORPHA:255138)
Gene: PDHB
Phenotype: Corticospinal tract hypoplasia (HP:0007016)
Associated disease: Pyruvate dehydrogenase E1-beta deficiency; PDHBD; Pyruvate dehydrogenase complex E1 component subunit beta deficiency (ORPHA:255138)
Gene: PDHB
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: Pyruvate dehydrogenase E1-beta deficiency; PDHBD; Pyruvate dehydrogenase complex E1 component subunit beta deficiency (ORPHA:255138)
Gene: PDHB
Phenotype: Short corpus callosum (HP:0200012)
Associated disease: Pyruvate dehydrogenase E1-beta deficiency; PDHBD; Pyruvate dehydrogenase complex E1 component subunit beta deficiency (ORPHA:255138)
Gene: PDHB
Phenotype: Periventricular heterotopia (HP:0007165)
Associated disease: Pyruvate dehydrogenase E1-beta deficiency; PDHBD; Pyruvate dehydrogenase complex E1 component subunit beta deficiency (ORPHA:255138)
Gene: PDHB
Phenotype: Periventricular cysts (HP:0007109)
Associated disease: Pyruvate dehydrogenase E1-beta deficiency; PDHBD; Pyruvate dehydrogenase complex E1 component subunit beta deficiency (ORPHA:255138)
Gene: PDHB
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY (OMIM:614111)
Gene: PDHB
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Pyruvate dehydrogenase E1-beta deficiency; PDHBD; Pyruvate dehydrogenase complex E1 component subunit beta deficiency (ORPHA:255138)
Gene: PDHB
Phenotype: Decreased body weight (HP:0004325)
Associated disease: Pyruvate dehydrogenase E1-beta deficiency; PDHBD; Pyruvate dehydrogenase complex E1 component subunit beta deficiency (ORPHA:255138)
Gene: PDHB
Phenotype: Periventricular leukomalacia (HP:0006970)
Associated disease: Pyruvate dehydrogenase E1-beta deficiency; PDHBD; Pyruvate dehydrogenase complex E1 component subunit beta deficiency (ORPHA:255138)
Gene: PDHB
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Pyruvate dehydrogenase E1-beta deficiency; PDHBD; Pyruvate dehydrogenase complex E1 component subunit beta deficiency (ORPHA:255138)
Gene: PDHB
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: Pyruvate dehydrogenase E1-beta deficiency; PDHBD; Pyruvate dehydrogenase complex E1 component subunit beta deficiency (ORPHA:255138)
Gene: PDHB
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY (OMIM:614111)
Gene: PDHB
Phenotype: Impaired smooth pursuit (HP:0007772)
Associated disease: Pyruvate dehydrogenase E1-beta deficiency; PDHBD; Pyruvate dehydrogenase complex E1 component subunit beta deficiency (ORPHA:255138)
Gene: PDHB
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Pyruvate dehydrogenase E1-beta deficiency; PDHBD; Pyruvate dehydrogenase complex E1 component subunit beta deficiency (ORPHA:255138)
Gene: PDHB
Phenotype: Decreased activity of the pyruvate dehydrogenase complex (HP:0002928)
Associated disease: Pyruvate dehydrogenase E1-beta deficiency; PDHBD; Pyruvate dehydrogenase complex E1 component subunit beta deficiency (ORPHA:255138)
Gene: PDK3
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6 (OMIM:300905)
Gene: PDK3
Phenotype: Motor delay (HP:0001270)
Associated disease: X-linked Charcot-Marie-Tooth disease type 6; CMT6X; CMTX6 (ORPHA:352675)
Gene: PDK3
Phenotype: Gait disturbance (HP:0001288)
Associated disease: X-linked Charcot-Marie-Tooth disease type 6; CMT6X; CMTX6 (ORPHA:352675)
Gene: PDK3
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: X-linked Charcot-Marie-Tooth disease type 6; CMT6X; CMTX6 (ORPHA:352675)
Gene: PDK3
Phenotype: Intrinsic hand muscle atrophy (HP:0008954)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6 (OMIM:300905)
Gene: PDK3
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6 (OMIM:300905)
Gene: PDK3
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: X-linked Charcot-Marie-Tooth disease type 6; CMT6X; CMTX6 (ORPHA:352675)
Gene: PDK3
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6 (OMIM:300905)
Gene: PDK3
Phenotype: Thenar muscle atrophy (HP:0003393)
Associated disease: X-linked Charcot-Marie-Tooth disease type 6; CMT6X; CMTX6 (ORPHA:352675)
Gene: PDK3
Phenotype: Steppage gait (HP:0003376)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6 (OMIM:300905)
Gene: PDK3
Phenotype: Steppage gait (HP:0003376)
Associated disease: X-linked Charcot-Marie-Tooth disease type 6; CMT6X; CMTX6 (ORPHA:352675)
Gene: PDK3
Phenotype: EMG: axonal abnormality (HP:0003482)
Associated disease: X-linked Charcot-Marie-Tooth disease type 6; CMT6X; CMTX6 (ORPHA:352675)
Gene: PDK3
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6 (OMIM:300905)
Gene: PDK3
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: X-linked Charcot-Marie-Tooth disease type 6; CMT6X; CMTX6 (ORPHA:352675)
Gene: PDK3
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: X-linked Charcot-Marie-Tooth disease type 6; CMT6X; CMTX6 (ORPHA:352675)
Gene: PDK3
Phenotype: Middle age onset (HP:0003596)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6 (OMIM:300905)
Gene: PDK3
Phenotype: Hand tremor (HP:0002378)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6 (OMIM:300905)
Gene: PDK3
Phenotype: Hand tremor (HP:0002378)
Associated disease: X-linked Charcot-Marie-Tooth disease type 6; CMT6X; CMTX6 (ORPHA:352675)
Gene: PDK3
Phenotype: Slowly progressive (HP:0003677)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6 (OMIM:300905)
Gene: PDK3
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6 (OMIM:300905)
Gene: PDK3
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: X-linked Charcot-Marie-Tooth disease type 6; CMT6X; CMTX6 (ORPHA:352675)
Gene: PDK3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6 (OMIM:300905)
Gene: PDK3
Phenotype: Decreased Achilles reflex (HP:0009072)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6 (OMIM:300905)
Gene: PDK3
Phenotype: Impaired distal vibration sensation (HP:0006886)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6 (OMIM:300905)
Gene: PDK3
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: X-linked Charcot-Marie-Tooth disease type 6; CMT6X; CMTX6 (ORPHA:352675)
Gene: PDK3
Phenotype: Childhood onset (HP:0011463)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6 (OMIM:300905)
Gene: PDK3
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: X-linked Charcot-Marie-Tooth disease type 6; CMT6X; CMTX6 (ORPHA:352675)
Gene: PDK3
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: X-linked Charcot-Marie-Tooth disease type 6; CMT6X; CMTX6 (ORPHA:352675)
Gene: PDK3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6 (OMIM:300905)
Gene: PDK3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: X-linked Charcot-Marie-Tooth disease type 6; CMT6X; CMTX6 (ORPHA:352675)
Gene: PDK3
Phenotype: Hand muscle weakness (HP:0030237)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6 (OMIM:300905)
Gene: PDK3
Phenotype: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6 (OMIM:300905)
Gene: PDK3
Phenotype: Pes cavus (HP:0001761)
Associated disease: X-linked Charcot-Marie-Tooth disease type 6; CMT6X; CMTX6 (ORPHA:352675)
Gene: ENPP1
Phenotype: Fetal distress (HP:0025116)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Fetal distress (HP:0025116)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 (OMIM:208000)
Gene: ENPP1
Phenotype: Hypergranulosis (HP:0025114)
Associated disease: COLE DISEASE (OMIM:615522)
Gene: ENPP1
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Angioid streaks of the fundus (HP:0001102)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ENPP1
Phenotype: Angioid streaks of the fundus (HP:0001102)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ENPP1
Phenotype: Stroke (HP:0001297)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Stroke (HP:0001297)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ENPP1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ENPP1
Phenotype: Renovascular hypertension (HP:0100817)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ENPP1
Phenotype: Seizure (HP:0001250)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: ENPP1
Phenotype: Seizure (HP:0001250)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Renal hypophosphatemia (HP:0008732)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: ENPP1
Phenotype: Excessive wrinkled skin (HP:0007392)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ENPP1
Phenotype: Polygenic inheritance (HP:0010982)
Associated disease: OBESITY (OMIM:601665)
Gene: ENPP1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ENPP1
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ENPP1
Phenotype: Stippled calcification of the shoulder (HP:0003836)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Ankylosis (HP:0031013)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 (OMIM:208000)
Gene: ENPP1
Phenotype: Low serum calcitriol (HP:0012052)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: ENPP1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ENPP1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Abnormal hip joint morphology (HP:0001384)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: ENPP1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ENPP1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Punctate palmoplantar hyperkeratosis (HP:0007530)
Associated disease: COLE DISEASE (OMIM:615522)
Gene: ENPP1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: ENPP1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ENPP1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Coxa valga (HP:0002673)
Associated disease: HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2 (OMIM:613312)
Gene: ENPP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2 (OMIM:613312)
Gene: ENPP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 (OMIM:208000)
Gene: ENPP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OBESITY (OMIM:601665)
Gene: ENPP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: ENPP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ENPP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COLE DISEASE (OMIM:615522)
Gene: ENPP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OBESITY (OMIM:601665)
Gene: ENPP1
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: ENPP1
Phenotype: Bone pain (HP:0002653)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: ENPP1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ENPP1
Phenotype: Aortic dissection (HP:0002647)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 (OMIM:208000)
Gene: ENPP1
Phenotype: Stippled calcification of the elbow (HP:0003941)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ENPP1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Hyperpigmented papule (HP:0025473)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ENPP1
Phenotype: Periarticular calcification (HP:0025477)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Periarticular calcification (HP:0025477)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 (OMIM:208000)
Gene: ENPP1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: COLE DISEASE (OMIM:615522)
Gene: ENPP1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ENPP1
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ENPP1
Phenotype: Renal phosphate wasting (HP:0000117)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: ENPP1
Phenotype: Weak pulse (HP:0032553)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2 (OMIM:613312)
Gene: ENPP1
Phenotype: Osteomalacia (HP:0002749)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: ENPP1
Phenotype: Osteomalacia (HP:0002749)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Malabsorption (HP:0002024)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: ENPP1
Phenotype: Vomiting (HP:0002013)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: ENPP1
Phenotype: Abnormal blood phosphate concentration (HP:0100529)
Associated disease: COLE DISEASE (OMIM:615522)
Gene: ENPP1
Phenotype: Arterial stenosis (HP:0100545)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 (OMIM:208000)
Gene: ENPP1
Phenotype: Arterial stenosis (HP:0100545)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ENPP1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Lower limb asymmetry (HP:0100559)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: ENPP1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ENPP1
Phenotype: Abnormality of vitamin D metabolism (HP:0100511)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: ENPP1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ENPP1
Phenotype: Hypocalcemic tetany (HP:0003472)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: ENPP1
Phenotype: Spinal canal stenosis (HP:0003416)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: ENPP1
Phenotype: Postural instability (HP:0002172)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ENPP1
Phenotype: Adrenal calcification (HP:0010512)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Infantile onset (HP:0003593)
Associated disease: COLE DISEASE (OMIM:615522)
Gene: ENPP1
Phenotype: Congenital onset (HP:0003577)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 (OMIM:208000)
Gene: ENPP1
Phenotype: Congenital onset (HP:0003577)
Associated disease: COLE DISEASE (OMIM:615522)
Gene: ENPP1
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)