TaoMedAI/RareMedData huggingface dataset:
Gene: PTEN
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)
Gene: PTEN
Phenotype: Abnormal optic nerve morphology (HP:0000587)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: PTEN
Phenotype: Prominent forehead (HP:0011220)
Associated disease: MACROCEPHALY/AUTISM SYNDROME (OMIM:605309)
Gene: PTEN
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: MACROCEPHALY/AUTISM SYNDROME (OMIM:605309)
Gene: PTEN
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: COWDEN SYNDROME 1 (OMIM:158350)
Gene: PTEN
Phenotype: Retinal detachment (HP:0000541)
Associated disease: Proteus-like syndrome (ORPHA:2969)
Gene: PTEN
Phenotype: Talipes (HP:0001883)
Associated disease: SOLAMEN syndrome; Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome (ORPHA:137608)
Gene: PTEN
Phenotype: Dilation of Virchow-Robin spaces (HP:0012520)
Associated disease: MACROCEPHALY/AUTISM SYNDROME (OMIM:605309)
Gene: PTEN
Phenotype: Myopia (HP:0000545)
Associated disease: Proteus-like syndrome (ORPHA:2969)
Gene: PTEN
Phenotype: Myopia (HP:0000545)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Myopia (HP:0000545)
Associated disease: COWDEN SYNDROME 1 (OMIM:158350)
Gene: PTGER2
Phenotype: Aspirin-induced asthma (HP:0012042)
Associated disease: ASTHMA, NASAL POLYPS, AND ASPIRIN INTOLERANCE (OMIM:208550)
Gene: PTGER2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ASTHMA, NASAL POLYPS, AND ASPIRIN INTOLERANCE (OMIM:208550)
Gene: PTGER2
Phenotype: Asthma (HP:0002099)
Associated disease: ASTHMA, NASAL POLYPS, AND ASPIRIN INTOLERANCE (OMIM:208550)
Gene: PTGER2
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: ASTHMA, NASAL POLYPS, AND ASPIRIN INTOLERANCE (OMIM:208550)
Gene: PTGER2
Phenotype: Bronchoconstriction (HP:4000007)
Associated disease: ASTHMA, NASAL POLYPS, AND ASPIRIN INTOLERANCE (OMIM:208550)
Gene: PTGIS
Phenotype: Non-Mendelian inheritance (HP:0001426)
Associated disease: HYPERTENSION, ESSENTIAL (OMIM:145500)
Gene: PTGIS
Phenotype: Elevated mean arterial pressure (HP:0004972)
Associated disease: HYPERTENSION, ESSENTIAL (OMIM:145500)
Gene: PTGIS
Phenotype: Elevated systolic blood pressure (HP:0004421)
Associated disease: HYPERTENSION, ESSENTIAL (OMIM:145500)
Gene: PTGIS
Phenotype: Elevated diastolic blood pressure (HP:0005117)
Associated disease: HYPERTENSION, ESSENTIAL (OMIM:145500)
Gene: PTH
Phenotype: Tetany (HP:0001281)
Associated disease: HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 1 (OMIM:146200)
Gene: PTH
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 1 (OMIM:146200)
Gene: PTH
Phenotype: Episodic (HP:0025303)
Associated disease: HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 1 (OMIM:146200)
Gene: PTH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 1 (OMIM:146200)
Gene: PTH
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 1 (OMIM:146200)
Gene: PTH
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 1 (OMIM:146200)
Gene: PTH
Phenotype: Hypocalcemic seizures (HP:0002199)
Associated disease: HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 1 (OMIM:146200)
Gene: PTH
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 1 (OMIM:146200)
Gene: PTH
Phenotype: Decreased circulating parathyroid hormone level (HP:0031817)
Associated disease: HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 1 (OMIM:146200)
Gene: PTH
Phenotype: Chvostek sign (HP:0031990)
Associated disease: HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 1 (OMIM:146200)
Gene: PTH
Phenotype: Irritability (HP:0000737)
Associated disease: HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 1 (OMIM:146200)
Gene: PTH
Phenotype: Hypoparathyroidism (HP:0000829)
Associated disease: HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 1 (OMIM:146200)
Gene: PTH
Phenotype: Hyperphosphatemia (HP:0002905)
Associated disease: HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 1 (OMIM:146200)
Gene: PTH
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 1 (OMIM:146200)
Gene: PTH
Phenotype: Cataract (HP:0000518)
Associated disease: HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 1 (OMIM:146200)
Gene: PTHLH
Phenotype: Brachydactyly (HP:0001156)
Associated disease: BRACHYDACTYLY, TYPE E2 (OMIM:613382)
Gene: PTHLH
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: Brachydactyly type E (ORPHA:93387)
Gene: PTHLH
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTHLH
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTHLH
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTHLH
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Brachydactyly type E (ORPHA:93387)
Gene: PTHLH
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTHLH
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTHLH
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BRACHYDACTYLY, TYPE E2 (OMIM:613382)
Gene: PTHLH
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTHLH
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTHLH
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTHLH
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Brachydactyly type E (ORPHA:93387)
Gene: PTHLH
Phenotype: Upper limb asymmetry (HP:0100560)
Associated disease: Brachydactyly type E (ORPHA:93387)
Gene: PTHLH
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTHLH
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTHLH
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Short metatarsal (HP:0010743)
Associated disease: BRACHYDACTYLY, TYPE E2 (OMIM:613382)
Gene: PTHLH
Phenotype: Short metatarsal (HP:0010743)
Associated disease: Brachydactyly type E (ORPHA:93387)
Gene: PTHLH
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTHLH
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTHLH
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTHLH
Phenotype: Aplasia/Hypoplasia of the distal phalanx of the hallux (HP:0010076)
Associated disease: Brachydactyly type E (ORPHA:93387)
Gene: PTHLH
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTHLH
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTHLH
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTHLH
Phenotype: Short metacarpal (HP:0010049)
Associated disease: Brachydactyly type E (ORPHA:93387)
Gene: PTHLH
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Short metacarpal (HP:0010049)
Associated disease: BRACHYDACTYLY, TYPE E2 (OMIM:613382)
Gene: PTHLH
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: BRACHYDACTYLY, TYPE E2 (OMIM:613382)
Gene: PTHLH
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Oligodontia (HP:0000677)
Associated disease: BRACHYDACTYLY, TYPE E2 (OMIM:613382)
Gene: PTHLH
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTHLH
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Short stature (HP:0004322)
Associated disease: Brachydactyly type E (ORPHA:93387)
Gene: PTHLH
Phenotype: Short stature (HP:0004322)
Associated disease: BRACHYDACTYLY, TYPE E2 (OMIM:613382)
Gene: PTHLH
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTHLH
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTHLH
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTHLH
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTHLH
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTHLH
Phenotype: Type E brachydactyly (HP:0005863)
Associated disease: Brachydactyly type E (ORPHA:93387)
Gene: PTHLH
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Brachydactyly type E (ORPHA:93387)
Gene: PTHLH
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTHLH
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTHLH
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTHLH
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTHLH
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTHLH
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTHLH
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTHLH
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTHLH
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTH1R
Phenotype: Broad palm (HP:0001169)
Associated disease: Eiken syndrome (ORPHA:79106)
Gene: PTH1R
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTH1R
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTH1R
Phenotype: Motor delay (HP:0001270)
Associated disease: EIKEN SYNDROME (OMIM:600002)
Gene: PTH1R
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Intellectual disability (HP:0001249)
Associated disease: EIKEN SYNDROME (OMIM:600002)
Gene: PTH1R
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Laryngeal calcification (HP:0008754)
Associated disease: CHONDRODYSPLASIA, BLOMSTRAND TYPE (OMIM:215045)
Gene: PTH1R
Phenotype: Abnormal fingertip morphology (HP:0001211)
Associated disease: Eiken syndrome (ORPHA:79106)
Gene: PTH1R
Phenotype: Delayed ossification of carpal bones (HP:0001216)
Associated disease: EIKEN SYNDROME (OMIM:600002)
Gene: PTH1R
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTH1R
Phenotype: Waddling gait (HP:0002515)
Associated disease: Metaphyseal chondrodysplasia, Jansen type (ORPHA:33067)
Gene: PTH1R
Phenotype: Waddling gait (HP:0002515)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE (OMIM:156400)
Gene: PTH1R
Phenotype: Stillbirth (HP:0003826)
Associated disease: CHONDRODYSPLASIA, BLOMSTRAND TYPE (OMIM:215045)
Gene: PTH1R
Phenotype: High iliac wing (HP:0008808)
Associated disease: Eiken syndrome (ORPHA:79106)
Gene: PTH1R
Phenotype: Limited hip movement (HP:0008800)
Associated disease: Eiken syndrome (ORPHA:79106)
Gene: PTH1R
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: PTH1R
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: EIKEN SYNDROME (OMIM:600002)
Gene: PTH1R
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTH1R
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: Metaphyseal chondrodysplasia, Jansen type (ORPHA:33067)
Gene: PTH1R
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: Metaphyseal chondrodysplasia, Jansen type (ORPHA:33067)
Gene: PTH1R
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Metaphyseal chondrodysplasia, Jansen type (ORPHA:33067)
Gene: PTH1R
Phenotype: Delayed epiphyseal ossification (HP:0002663)
Associated disease: Eiken syndrome (ORPHA:79106)
Gene: PTH1R
Phenotype: Delayed epiphyseal ossification (HP:0002663)
Associated disease: EIKEN SYNDROME (OMIM:600002)
Gene: PTH1R
Phenotype: Neoplasm (HP:0002664)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: PTH1R
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: Eiken syndrome (ORPHA:79106)
Gene: PTH1R
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTH1R
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHONDRODYSPLASIA, BLOMSTRAND TYPE (OMIM:215045)
Gene: PTH1R
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EIKEN SYNDROME (OMIM:600002)
Gene: PTH1R
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE (OMIM:156400)
Gene: PTH1R
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FAILURE OF TOOTH ERUPTION, PRIMARY (OMIM:125350)
Gene: PTH1R
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTH1R
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: EIKEN SYNDROME (OMIM:600002)
Gene: PTH1R
Phenotype: Bone pain (HP:0002653)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: PTH1R
Phenotype: Scoliosis (HP:0002650)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: PTH1R
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTH1R
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: Metaphyseal chondrodysplasia, Jansen type (ORPHA:33067)
Gene: PTH1R
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTH1R
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Neonatal short-limb short stature (HP:0008921)
Associated disease: BLC; Chondrodysplasia, Blomstrand type; BOCD; Blomstrand chondrodysplasia; Blomstrand lethal chondrodysplasia; Blomstrand osteochondrodysplasia (ORPHA:50945)
Gene: PTH1R
Phenotype: Rhizomelia (HP:0008905)
Associated disease: BLC; Chondrodysplasia, Blomstrand type; BOCD; Blomstrand chondrodysplasia; Blomstrand lethal chondrodysplasia; Blomstrand osteochondrodysplasia (ORPHA:50945)
Gene: PTH1R
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: EIKEN SYNDROME (OMIM:600002)
Gene: PTH1R
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Osteolysis (HP:0002797)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: PTH1R
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: PTH1R
Phenotype: Failure of eruption of permanent teeth (HP:0006352)
Associated disease: FAILURE OF TOOTH ERUPTION, PRIMARY (OMIM:125350)
Gene: PTH1R
Phenotype: Persistence of primary teeth (HP:0006335)
Associated disease: EIKEN SYNDROME (OMIM:600002)
Gene: PTH1R
Phenotype: Persistence of primary teeth (HP:0006335)
Associated disease: FAILURE OF TOOTH ERUPTION, PRIMARY (OMIM:125350)
Gene: PTH1R
Phenotype: Multiple unerupted teeth (HP:0006283)
Associated disease: EIKEN SYNDROME (OMIM:600002)
Gene: PTH1R
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: Metaphyseal chondrodysplasia, Jansen type (ORPHA:33067)
Gene: PTH1R
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE (OMIM:156400)
Gene: PTH1R
Phenotype: Long thumb (HP:0032524)
Associated disease: EIKEN SYNDROME (OMIM:600002)
Gene: PTH1R
Phenotype: Abnormal cartilage morphology (HP:0002763)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)