TaoMedAI/RareMedData huggingface dataset:
Gene: ABCB4
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ABCB4
Phenotype: Obesity (HP:0001513)
Associated disease: Low phospholipid-associated cholelithiasis; ABCB4-related cholelithiasis; LPAC (ORPHA:69663)
Gene: ABCB4
Phenotype: Portal fibrosis (HP:0006580)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 (OMIM:602347)
Gene: ABCB4
Phenotype: Biliary tract obstruction (HP:0005230)
Associated disease: Low phospholipid-associated cholelithiasis; ABCB4-related cholelithiasis; LPAC (ORPHA:69663)
Gene: ABCB4
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 (OMIM:602347)
Gene: ABCB4
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Low phospholipid-associated cholelithiasis; ABCB4-related cholelithiasis; LPAC (ORPHA:69663)
Gene: ABCB4
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ABCB4
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: GALLBLADDER DISEASE 1 (OMIM:600803)
Gene: ABCB4
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ABCB4
Phenotype: Cholangitis (HP:0030151)
Associated disease: Low phospholipid-associated cholelithiasis; ABCB4-related cholelithiasis; LPAC (ORPHA:69663)
Gene: ABCB4
Phenotype: Cholangitis (HP:0030151)
Associated disease: GALLBLADDER DISEASE 1 (OMIM:600803)
Gene: ABCB4
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ABCB4
Phenotype: Premature birth (HP:0001622)
Associated disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 (OMIM:614972)
Gene: ABCB4
Phenotype: Premature birth (HP:0001622)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ABCB4
Phenotype: Pancreatitis (HP:0001733)
Associated disease: Low phospholipid-associated cholelithiasis; ABCB4-related cholelithiasis; LPAC (ORPHA:69663)
Gene: ABCB4
Phenotype: Pancreatitis (HP:0001733)
Associated disease: GALLBLADDER DISEASE 1 (OMIM:600803)
Gene: ABCB4
Phenotype: Abnormality of the pancreas (HP:0001732)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ABCB4
Phenotype: Abnormal circulating interleukin concentration (HP:0011117)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ABCB4
Phenotype: Meconium stained amniotic fluid (HP:0012420)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ABCB4
Phenotype: Splenomegaly (HP:0001744)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 (OMIM:602347)
Gene: PHB1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: PHB1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: PHB1
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: SLC25A3
Phenotype: Hypotonia (HP:0001252)
Associated disease: MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY (OMIM:610773)
Gene: SLC25A3
Phenotype: Hypotonia (HP:0001252)
Associated disease: Cardiomyopathy-hypotonia-lactic acidosis syndrome (ORPHA:91130)
Gene: SLC25A3
Phenotype: Abnormal mitochondrial shape (HP:0012087)
Associated disease: MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY (OMIM:610773)
Gene: SLC25A3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY (OMIM:610773)
Gene: SLC25A3
Phenotype: Abnormality of the mitochondrion (HP:0012103)
Associated disease: Cardiomyopathy-hypotonia-lactic acidosis syndrome (ORPHA:91130)
Gene: SLC25A3
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Cardiomyopathy-hypotonia-lactic acidosis syndrome (ORPHA:91130)
Gene: SLC25A3
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY (OMIM:610773)
Gene: SLC25A3
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: Cardiomyopathy-hypotonia-lactic acidosis syndrome (ORPHA:91130)
Gene: SLC25A3
Phenotype: Low-output congestive heart failure (HP:0009805)
Associated disease: Cardiomyopathy-hypotonia-lactic acidosis syndrome (ORPHA:91130)
Gene: SLC25A3
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: Cardiomyopathy-hypotonia-lactic acidosis syndrome (ORPHA:91130)
Gene: SLC25A3
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY (OMIM:610773)
Gene: SLC25A3
Phenotype: Myopathy (HP:0003198)
Associated disease: Cardiomyopathy-hypotonia-lactic acidosis syndrome (ORPHA:91130)
Gene: SLC25A3
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: Cardiomyopathy-hypotonia-lactic acidosis syndrome (ORPHA:91130)
Gene: SLC25A3
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY (OMIM:610773)
Gene: SLC25A3
Phenotype: Cyanosis (HP:0000961)
Associated disease: Cardiomyopathy-hypotonia-lactic acidosis syndrome (ORPHA:91130)
Gene: SLC25A3
Phenotype: Cyanosis (HP:0000961)
Associated disease: MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY (OMIM:610773)
Gene: SLC25A3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Cardiomyopathy-hypotonia-lactic acidosis syndrome (ORPHA:91130)
Gene: SLC25A3
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Cardiomyopathy-hypotonia-lactic acidosis syndrome (ORPHA:91130)
Gene: SLC25A3
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY (OMIM:610773)
Gene: PHEX
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHEX
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHEX
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Waddling gait (HP:0002515)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT (OMIM:307800)
Gene: PHEX
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHEX
Phenotype: Upper limb metaphyseal widening (HP:0003856)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Thick growth plates (HP:0025369)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Arthritis (HP:0001369)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Delayed ability to stand (HP:0025335)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHEX
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHEX
Phenotype: Muscle weakness (HP:0001324)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHEX
Phenotype: Bone pain (HP:0002653)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT (OMIM:307800)
Gene: PHEX
Phenotype: Bone pain (HP:0002653)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHEX
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT (OMIM:307800)
Gene: PHEX
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHEX
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Enamel hypomineralization (HP:0006285)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT (OMIM:307800)
Gene: PHEX
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Renal phosphate wasting (HP:0000117)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT (OMIM:307800)
Gene: PHEX
Phenotype: Renal phosphate wasting (HP:0000117)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Renal tubular dysfunction (HP:0000124)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT (OMIM:307800)
Gene: PHEX
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT (OMIM:307800)
Gene: PHEX
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT (OMIM:307800)
Gene: PHEX
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT (OMIM:307800)
Gene: PHEX
Phenotype: Rickets (HP:0002748)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Rickets (HP:0002748)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT (OMIM:307800)
Gene: PHEX
Phenotype: Osteomalacia (HP:0002749)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT (OMIM:307800)
Gene: PHEX
Phenotype: Dysphagia (HP:0002015)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Frontal bossing (HP:0002007)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Frontal bossing (HP:0002007)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT (OMIM:307800)
Gene: PHEX
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHEX
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Shortening of the talar neck (HP:0008117)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT (OMIM:307800)
Gene: PHEX
Phenotype: Shortening of the talar neck (HP:0008117)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Flattening of the talar dome (HP:0008144)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT (OMIM:307800)
Gene: PHEX
Phenotype: Flattening of the talar dome (HP:0008144)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT (OMIM:307800)
Gene: PHEX
Phenotype: Spinal canal stenosis (HP:0003416)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT (OMIM:307800)
Gene: PHEX
Phenotype: Spinal canal stenosis (HP:0003416)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT (OMIM:307800)
Gene: PHEX
Phenotype: Disproportionate short stature (HP:0003498)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Spinal cord compression (HP:0002176)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT (OMIM:307800)
Gene: PHEX
Phenotype: Spinal cord compression (HP:0002176)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Fibular bowing (HP:0010502)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT (OMIM:307800)
Gene: PHEX
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT (OMIM:307800)
Gene: PHEX
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Elevated circulating fibroblast growth factor 23 concentration (HP:6000407)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHEX
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Cellulitis (HP:0100658)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Enthesitis (HP:0100686)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Vertebral hyperostosis (HP:0008442)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHEX
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHEX
Phenotype: Hypophosphatemic rickets (HP:0004912)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT (OMIM:307800)
Gene: PHEX
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHEX
Phenotype: Cupped metaphyses of hand bones (HP:0004273)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT (OMIM:307800)
Gene: PHEX
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHEX
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHEX
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHEX
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Odontodysplasia (HP:0000694)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHEX
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Short stature (HP:0004322)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT (OMIM:307800)
Gene: PHEX
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHEX
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHEX
Phenotype: Abnormal circulating calcium concentration (HP:0004363)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT (OMIM:307800)
Gene: PHEX
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT (OMIM:307800)
Gene: PHEX
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT (OMIM:307800)
Gene: PHEX
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Tooth abscess (HP:0030757)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Abnormal dentin morphology (HP:0010299)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Enlargement of the costochondral junction (HP:0000920)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT (OMIM:307800)
Gene: PHEX
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Elevated circulating parathyroid hormone level (HP:0003165)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT (OMIM:307800)
Gene: PHEX
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHEX
Phenotype: Hypocalciuria (HP:0003127)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Generalized osteosclerosis (HP:0005789)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Secondary hyperparathyroidism (HP:0000867)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHEX
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Rachitic rosary (HP:0000897)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT (OMIM:307800)
Gene: PHEX
Phenotype: Rachitic rosary (HP:0000897)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHEX
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Trapezoidal distal femoral condyles (HP:0006432)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT (OMIM:307800)
Gene: PHEX
Phenotype: Trapezoidal distal femoral condyles (HP:0006432)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Arthralgia (HP:0002829)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Arthralgia (HP:0002829)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT (OMIM:307800)