TaoMedAI/RareMedData huggingface dataset:
Gene: ENPP1
Phenotype: Late onset (HP:0003584)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: ENPP1
Phenotype: Abnormal sacroiliac joint morphology (HP:0100781)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: ENPP1
Phenotype: Gangrene (HP:0100758)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Elevated alkaline phosphatase of bone origin (HP:0010639)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: ENPP1
Phenotype: Elevated alkaline phosphatase of bone origin (HP:0010639)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Hypopigmented macule (HP:0020073)
Associated disease: COLE DISEASE (OMIM:615522)
Gene: ENPP1
Phenotype: Striae distensae (HP:0001065)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ENPP1
Phenotype: Multiple lipomas (HP:0001012)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ENPP1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ENPP1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ENPP1
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: COLE DISEASE (OMIM:615522)
Gene: ENPP1
Phenotype: Abnormal cerebral vascular morphology (HP:0100659)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ENPP1
Phenotype: Abnormal trabecular bone morphology (HP:0100671)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: ENPP1
Phenotype: Lack of skin elasticity (HP:0100679)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ENPP1
Phenotype: Recurrent spontaneous abortion (HP:0200067)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Ectopic calcification (HP:0010766)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Ectopic calcification (HP:0010766)
Associated disease: COLE DISEASE (OMIM:615522)
Gene: ENPP1
Phenotype: Enthesitis (HP:0100686)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: ENPP1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ENPP1
Phenotype: Calcification of the aorta (HP:0004963)
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 onset (HP:0003623)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 (OMIM:208000)
Gene: ENPP1
Phenotype: Medial calcification of large arteries (HP:0004966)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Generalized arterial calcification (HP:0004940)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 (OMIM:208000)
Gene: ENPP1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ENPP1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2 (OMIM:613312)
Gene: ENPP1
Phenotype: Hypophosphatemic rickets (HP:0004912)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: ENPP1
Phenotype: Hypophosphatemic rickets (HP:0004912)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Hypophosphatemic rickets (HP:0004912)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 (OMIM:208000)
Gene: ENPP1
Phenotype: Hypophosphatemic rickets (HP:0004912)
Associated disease: HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2 (OMIM:613312)
Gene: ENPP1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ENPP1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Increased waist to hip ratio (HP:0031819)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: ENPP1
Phenotype: Increased waist to hip ratio (HP:0031819)
Associated disease: OBESITY (OMIM:601665)
Gene: ENPP1
Phenotype: Abnormal retinal artery morphology (HP:0000630)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ENPP1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ENPP1
Phenotype: Fever (HP:0001945)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Renal artery stenosis (HP:0001920)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 (OMIM:208000)
Gene: ENPP1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ENPP1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Severe global developmental delay (HP:0011344)
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 eruption of teeth (HP:0000684)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: ENPP1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Hypoplasia of teeth (HP:0000685)
Associated disease: HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2 (OMIM:613312)
Gene: ENPP1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ENPP1
Phenotype: Carious teeth (HP:0000670)
Associated disease: HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2 (OMIM:613312)
Gene: ENPP1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Short stature (HP:0004322)
Associated disease: HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2 (OMIM:613312)
Gene: ENPP1
Phenotype: Short stature (HP:0004322)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: ENPP1
Phenotype: Short stature (HP:0004322)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 (OMIM:208000)
Gene: ENPP1
Phenotype: Abnormal endocardium morphology (HP:0004306)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ENPP1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ENPP1
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: COLE DISEASE (OMIM:615522)
Gene: ENPP1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ENPP1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ENPP1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Enlargement of the wrists (HP:0003020)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: ENPP1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Abnormal thorax morphology (HP:0000765)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ENPP1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Pseudo-fractures (HP:0100036)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: ENPP1
Phenotype: Irritability (HP:0000737)
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 speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Abnormal calcification of the carpal bones (HP:0009164)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Childhood onset (HP:0011463)
Associated disease: HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2 (OMIM:613312)
Gene: ENPP1
Phenotype: Childhood onset (HP:0011463)
Associated disease: COLE DISEASE (OMIM:615522)
Gene: ENPP1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Hyperphosphaturia (HP:0003109)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: ENPP1
Phenotype: Hyperphosphaturia (HP:0003109)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Hyperphosphaturia (HP:0003109)
Associated disease: HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2 (OMIM:613312)
Gene: ENPP1
Phenotype: Tooth abscess (HP:0030757)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: ENPP1
Phenotype: Intermittent claudication (HP:0004417)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ENPP1
Phenotype: Polyarticular arthritis (HP:0005764)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: ENPP1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2 (OMIM:613312)
Gene: ENPP1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ENPP1
Phenotype: Insulin resistance (HP:0000855)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: ENPP1
Phenotype: Choroidal neovascularization (HP:0011506)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Choroidal neovascularization (HP:0011506)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ENPP1
Phenotype: Hypertension (HP:0000822)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ENPP1
Phenotype: Hypertension (HP:0000822)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 (OMIM:208000)
Gene: ENPP1
Phenotype: Hypertension (HP:0000822)
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 puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ENPP1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Sclerotic vertebral endplates (HP:0004576)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: ENPP1
Phenotype: Arterial calcification (HP:0003207)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ENPP1
Phenotype: Hyperkeratotic papule (HP:0045059)
Associated disease: COLE DISEASE (OMIM:615522)
Gene: ENPP1
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ENPP1
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ENPP1
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: COLE DISEASE (OMIM:615522)
Gene: ENPP1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ENPP1
Phenotype: Edema (HP:0000969)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Cyanosis (HP:0000961)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: COLE DISEASE (OMIM:615522)
Gene: ENPP1
Phenotype: Retinal peau d'orange (HP:0033027)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ENPP1
Phenotype: Orthokeratosis (HP:0040162)
Associated disease: COLE DISEASE (OMIM:615522)
Gene: ENPP1
Phenotype: Encephalomalacia (HP:0040197)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: COLE DISEASE (OMIM:615522)
Gene: ENPP1
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: COLE DISEASE (OMIM:615522)
Gene: ENPP1
Phenotype: Rickets of the lower limbs (HP:0006463)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: ENPP1
Phenotype: Calcification of the auricular cartilage (HP:0005103)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Distal femoral bowing (HP:0005096)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: ENPP1
Phenotype: Abnormality of the lower limb (HP:0002814)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: ENPP1
Phenotype: Abnormality of the knee (HP:0002815)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Coxa vara (HP:0002812)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: ENPP1
Phenotype: Arthralgia (HP:0002829)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Redundant skin (HP:0001582)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ENPP1
Phenotype: Abdominal aortic calcification (HP:0031313)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 (OMIM:208000)
Gene: ENPP1
Phenotype: Carotid artery calcification (HP:0031314)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 (OMIM:208000)
Gene: ENPP1
Phenotype: Calcinosis cutis (HP:0025520)
Associated disease: COLE DISEASE (OMIM:615522)
Gene: ENPP1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ENPP1
Phenotype: Genu valgum (HP:0002857)
Associated disease: HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2 (OMIM:613312)
Gene: ENPP1
Phenotype: Ascites (HP:0001541)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ENPP1
Phenotype: Growth abnormality (HP:0001507)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 (OMIM:208000)
Gene: ENPP1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Growth delay (HP:0001510)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: ENPP1
Phenotype: Obesity (HP:0001513)
Associated disease: OBESITY (OMIM:601665)
Gene: ENPP1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ENPP1
Phenotype: Stapes ankylosis (HP:0000381)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Abnormality of renal excretion (HP:0011036)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: ENPP1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Hepatic calcification (HP:0006559)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Pancreatic calcification (HP:0005213)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Fused cervical vertebrae (HP:0002949)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)