TaoMedAI/RareMedData huggingface dataset:
Gene: PTH1R
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: PTH1R
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE (OMIM:156400)
Gene: PTH1R
Phenotype: Thin bony cortex (HP:0002753)
Associated disease: Metaphyseal chondrodysplasia, Jansen type (ORPHA:33067)
Gene: PTH1R
Phenotype: Thin bony cortex (HP:0002753)
Associated disease: Eiken syndrome (ORPHA:79106)
Gene: PTH1R
Phenotype: Thick skull base (HP:0002737)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE (OMIM:156400)
Gene: PTH1R
Phenotype: Prominent supraorbital arches in adult (HP:0004676)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE (OMIM:156400)
Gene: PTH1R
Phenotype: Midface retrusion (HP:0011800)
Associated disease: EIKEN SYNDROME (OMIM:600002)
Gene: PTH1R
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: BLC; Chondrodysplasia, Blomstrand type; BOCD; Blomstrand chondrodysplasia; Blomstrand lethal chondrodysplasia; Blomstrand osteochondrodysplasia (ORPHA:50945)
Gene: PTH1R
Phenotype: Upper limb asymmetry (HP:0100560)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: PTH1R
Phenotype: Lower limb asymmetry (HP:0100559)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: PTH1R
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTH1R
Phenotype: Decreased circulating vitamin D concentration (HP:0100512)
Associated disease: EIKEN SYNDROME (OMIM:600002)
Gene: PTH1R
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Delayed tarsal ossification (HP:0008103)
Associated disease: EIKEN SYNDROME (OMIM:600002)
Gene: PTH1R
Phenotype: Advanced tarsal ossification (HP:0008108)
Associated disease: CHONDRODYSPLASIA, BLOMSTRAND TYPE (OMIM:215045)
Gene: PTH1R
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: BLC; Chondrodysplasia, Blomstrand type; BOCD; Blomstrand chondrodysplasia; Blomstrand lethal chondrodysplasia; Blomstrand osteochondrodysplasia (ORPHA:50945)
Gene: PTH1R
Phenotype: Abnormal vertebral morphology (HP:0003468)
Associated disease: CHONDRODYSPLASIA, BLOMSTRAND TYPE (OMIM:215045)
Gene: PTH1R
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: Metaphyseal chondrodysplasia, Jansen type (ORPHA:33067)
Gene: PTH1R
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE (OMIM:156400)
Gene: PTH1R
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: Metaphyseal chondrodysplasia, Jansen type (ORPHA:33067)
Gene: PTH1R
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE (OMIM:156400)
Gene: PTH1R
Phenotype: Wide cranial sutures (HP:0010537)
Associated disease: Metaphyseal chondrodysplasia, Jansen type (ORPHA:33067)
Gene: PTH1R
Phenotype: Abnormal bone ossification (HP:0011849)
Associated disease: Eiken syndrome (ORPHA:79106)
Gene: PTH1R
Phenotype: Pseudoepiphyses (HP:0010584)
Associated disease: EIKEN SYNDROME (OMIM:600002)
Gene: PTH1R
Phenotype: Bilateral choanal atresia/stenosis (HP:0200138)
Associated disease: Metaphyseal chondrodysplasia, Jansen type (ORPHA:33067)
Gene: PTH1R
Phenotype: Lymphangioma (HP:0100764)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: PTH1R
Phenotype: Visceral angiomatosis (HP:0100761)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: PTH1R
Phenotype: Clubbing of fingers (HP:0100759)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE (OMIM:156400)
Gene: PTH1R
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Severe short stature (HP:0003510)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE (OMIM:156400)
Gene: PTH1R
Phenotype: Hemangioma (HP:0001028)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: PTH1R
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: EIKEN SYNDROME (OMIM:600002)
Gene: PTH1R
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTH1R
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Abnormal trabecular bone morphology (HP:0100671)
Associated disease: Eiken syndrome (ORPHA:79106)
Gene: PTH1R
Phenotype: Protruding tongue (HP:0010808)
Associated disease: BLC; Chondrodysplasia, Blomstrand type; BOCD; Blomstrand chondrodysplasia; Blomstrand lethal chondrodysplasia; Blomstrand osteochondrodysplasia (ORPHA:50945)
Gene: PTH1R
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: Eiken syndrome (ORPHA:79106)
Gene: PTH1R
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: PTH1R
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTH1R
Phenotype: Chiari malformation (HP:0002308)
Associated disease: EIKEN SYNDROME (OMIM:600002)
Gene: PTH1R
Phenotype: Venous thrombosis (HP:0004936)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: PTH1R
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTH1R
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTH1R
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE (OMIM:156400)
Gene: PTH1R
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: PTH1R
Phenotype: Short palm (HP:0004279)
Associated disease: Eiken syndrome (ORPHA:79106)
Gene: PTH1R
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: CHONDRODYSPLASIA, BLOMSTRAND TYPE (OMIM:215045)
Gene: PTH1R
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTH1R
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTH1R
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTH1R
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Short metacarpal (HP:0010049)
Associated disease: BLC; Chondrodysplasia, Blomstrand type; BOCD; Blomstrand chondrodysplasia; Blomstrand lethal chondrodysplasia; Blomstrand osteochondrodysplasia (ORPHA:50945)
Gene: PTH1R
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Oligodontia (HP:0000677)
Associated disease: EIKEN SYNDROME (OMIM:600002)
Gene: PTH1R
Phenotype: Tooth malposition (HP:0000692)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE (OMIM:156400)
Gene: PTH1R
Phenotype: Natal tooth (HP:0000695)
Associated disease: BLC; Chondrodysplasia, Blomstrand type; BOCD; Blomstrand chondrodysplasia; Blomstrand lethal chondrodysplasia; Blomstrand osteochondrodysplasia (ORPHA:50945)
Gene: PTH1R
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTH1R
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Hypodontia (HP:0000668)
Associated disease: FAILURE OF TOOTH ERUPTION, PRIMARY (OMIM:125350)
Gene: PTH1R
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Decreased body weight (HP:0004325)
Associated disease: EIKEN SYNDROME (OMIM:600002)
Gene: PTH1R
Phenotype: Short stature (HP:0004322)
Associated disease: EIKEN SYNDROME (OMIM:600002)
Gene: PTH1R
Phenotype: Short stature (HP:0004322)
Associated disease: Eiken syndrome (ORPHA:79106)
Gene: PTH1R
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: CHONDRODYSPLASIA, BLOMSTRAND TYPE (OMIM:215045)
Gene: PTH1R
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: BLC; Chondrodysplasia, Blomstrand type; BOCD; Blomstrand chondrodysplasia; Blomstrand lethal chondrodysplasia; Blomstrand osteochondrodysplasia (ORPHA:50945)
Gene: PTH1R
Phenotype: Antenatal onset (HP:0030674)
Associated disease: CHONDRODYSPLASIA, BLOMSTRAND TYPE (OMIM:215045)
Gene: PTH1R
Phenotype: Flattened epiphysis (HP:0003071)
Associated disease: EIKEN SYNDROME (OMIM:600002)
Gene: PTH1R
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Metaphyseal chondrodysplasia, Jansen type (ORPHA:33067)
Gene: PTH1R
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE (OMIM:156400)
Gene: PTH1R
Phenotype: Hydroxyprolinuria (HP:0003080)
Associated disease: Metaphyseal chondrodysplasia, Jansen type (ORPHA:33067)
Gene: PTH1R
Phenotype: Madelung deformity (HP:0003067)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: PTH1R
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTH1R
Phenotype: Fibular hypoplasia (HP:0003038)
Associated disease: Eiken syndrome (ORPHA:79106)
Gene: PTH1R
Phenotype: Fibular hypoplasia (HP:0003038)
Associated disease: EIKEN SYNDROME (OMIM:600002)
Gene: PTH1R
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTH1R
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: CHONDRODYSPLASIA, BLOMSTRAND TYPE (OMIM:215045)
Gene: PTH1R
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: BLC; Chondrodysplasia, Blomstrand type; BOCD; Blomstrand chondrodysplasia; Blomstrand lethal chondrodysplasia; Blomstrand osteochondrodysplasia (ORPHA:50945)
Gene: PTH1R
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Short long bone (HP:0003026)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE (OMIM:156400)
Gene: PTH1R
Phenotype: Mesomelia (HP:0003027)
Associated disease: BLC; Chondrodysplasia, Blomstrand type; BOCD; Blomstrand chondrodysplasia; Blomstrand lethal chondrodysplasia; Blomstrand osteochondrodysplasia (ORPHA:50945)
Gene: PTH1R
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: Eiken syndrome (ORPHA:79106)
Gene: PTH1R
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Metaphyseal cupping (HP:0003021)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE (OMIM:156400)
Gene: PTH1R
Phenotype: Metaphyseal cupping (HP:0003021)
Associated disease: BLC; Chondrodysplasia, Blomstrand type; BOCD; Blomstrand chondrodysplasia; Blomstrand lethal chondrodysplasia; Blomstrand osteochondrodysplasia (ORPHA:50945)
Gene: PTH1R
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Eruption failure (HP:0000706)
Associated disease: EIKEN SYNDROME (OMIM:600002)
Gene: PTH1R
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Narrow chest (HP:0000774)
Associated disease: CHONDRODYSPLASIA, BLOMSTRAND TYPE (OMIM:215045)
Gene: PTH1R
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Narrow chest (HP:0000774)
Associated disease: BLC; Chondrodysplasia, Blomstrand type; BOCD; Blomstrand chondrodysplasia; Blomstrand lethal chondrodysplasia; Blomstrand osteochondrodysplasia (ORPHA:50945)
Gene: PTH1R
Phenotype: Short ribs (HP:0000773)
Associated disease: CHONDRODYSPLASIA, BLOMSTRAND TYPE (OMIM:215045)
Gene: PTH1R
Phenotype: Short ribs (HP:0000773)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE (OMIM:156400)
Gene: PTH1R
Phenotype: Short ribs (HP:0000773)
Associated disease: BLC; Chondrodysplasia, Blomstrand type; BOCD; Blomstrand chondrodysplasia; Blomstrand lethal chondrodysplasia; Blomstrand osteochondrodysplasia (ORPHA:50945)
Gene: PTH1R
Phenotype: Hyperphosphaturia (HP:0003109)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE (OMIM:156400)
Gene: PTH1R
Phenotype: Multiple enchondromatosis (HP:0005701)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: PTH1R
Phenotype: Lethal skeletal dysplasia (HP:0005716)
Associated disease: BLC; Chondrodysplasia, Blomstrand type; BOCD; Blomstrand chondrodysplasia; Blomstrand lethal chondrodysplasia; Blomstrand osteochondrodysplasia (ORPHA:50945)
Gene: PTH1R
Phenotype: Short nose (HP:0003196)
Associated disease: BLC; Chondrodysplasia, Blomstrand type; BOCD; Blomstrand chondrodysplasia; Blomstrand lethal chondrodysplasia; Blomstrand osteochondrodysplasia (ORPHA:50945)
Gene: PTH1R
Phenotype: Broad clavicles (HP:0000916)
Associated disease: BLC; Chondrodysplasia, Blomstrand type; BOCD; Blomstrand chondrodysplasia; Blomstrand lethal chondrodysplasia; Blomstrand osteochondrodysplasia (ORPHA:50945)
Gene: PTH1R
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Platyspondyly (HP:0000926)
Associated disease: BLC; Chondrodysplasia, Blomstrand type; BOCD; Blomstrand chondrodysplasia; Blomstrand lethal chondrodysplasia; Blomstrand osteochondrodysplasia (ORPHA:50945)
Gene: PTH1R
Phenotype: Squared iliac bones (HP:0003177)
Associated disease: CHONDRODYSPLASIA, BLOMSTRAND TYPE (OMIM:215045)
Gene: PTH1R
Phenotype: Abnormal acetabulum morphology (HP:0003170)
Associated disease: Eiken syndrome (ORPHA:79106)
Gene: PTH1R
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: EIKEN SYNDROME (OMIM:600002)
Gene: PTH1R
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: EIKEN SYNDROME (OMIM:600002)
Gene: PTH1R
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: Metaphyseal chondrodysplasia, Jansen type (ORPHA:33067)
Gene: PTH1R
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE (OMIM:156400)
Gene: PTH1R
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Elevated circulating parathyroid hormone level (HP:0003165)
Associated disease: Metaphyseal chondrodysplasia, Jansen type (ORPHA:33067)
Gene: PTH1R
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTH1R
Phenotype: Generalized osteosclerosis (HP:0005789)
Associated disease: CHONDRODYSPLASIA, BLOMSTRAND TYPE (OMIM:215045)
Gene: PTH1R
Phenotype: Thin ribs (HP:0000883)
Associated disease: Metaphyseal chondrodysplasia, Jansen type (ORPHA:33067)
Gene: PTH1R
Phenotype: Broad ribs (HP:0000885)
Associated disease: EIKEN SYNDROME (OMIM:600002)
Gene: PTH1R
Phenotype: Hypoparathyroidism (HP:0000829)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE (OMIM:156400)
Gene: PTH1R
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTH1R
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Metaphyseal chondrodysplasia (HP:0005871)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE (OMIM:156400)
Gene: PTH1R
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTH1R
Phenotype: Joint contracture (HP:0034392)
Associated disease: Metaphyseal chondrodysplasia, Jansen type (ORPHA:33067)
Gene: PTH1R
Phenotype: Narrow pelvis bone (HP:0003275)
Associated disease: Eiken syndrome (ORPHA:79106)
Gene: PTH1R
Phenotype: Narrow pelvis bone (HP:0003275)
Associated disease: EIKEN SYNDROME (OMIM:600002)
Gene: PTH1R
Phenotype: Hip contracture (HP:0003273)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE (OMIM:156400)
Gene: PTH1R
Phenotype: Short thorax (HP:0010306)
Associated disease: BLC; Chondrodysplasia, Blomstrand type; BOCD; Blomstrand chondrodysplasia; Blomstrand lethal chondrodysplasia; Blomstrand osteochondrodysplasia (ORPHA:50945)
Gene: PTH1R
Phenotype: Absence of the sacrum (HP:0010305)
Associated disease: Eiken syndrome (ORPHA:79106)
Gene: PTH1R
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Osteopenia (HP:0000938)
Associated disease: Metaphyseal chondrodysplasia, Jansen type (ORPHA:33067)
Gene: PTH1R
Phenotype: Osteopenia (HP:0000938)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE (OMIM:156400)
Gene: PTH1R
Phenotype: Synostosis of joints (HP:0100240)
Associated disease: BLC; Chondrodysplasia, Blomstrand type; BOCD; Blomstrand chondrodysplasia; Blomstrand lethal chondrodysplasia; Blomstrand osteochondrodysplasia (ORPHA:50945)
Gene: PTH1R
Phenotype: Sarcoma (HP:0100242)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: PTH1R
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: PTH1R
Phenotype: Short middle phalanx of finger (HP:0005819)
Associated disease: EIKEN SYNDROME (OMIM:600002)
Gene: PTH1R
Phenotype: Type A1 brachydactyly (HP:0009371)
Associated disease: EIKEN SYNDROME (OMIM:600002)
Gene: PTH1R
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Full cheeks (HP:0000293)
Associated disease: Metaphyseal chondrodysplasia, Jansen type (ORPHA:33067)
Gene: PTH1R
Phenotype: Malar flattening (HP:0000272)
Associated disease: CHONDRODYSPLASIA, BLOMSTRAND TYPE (OMIM:215045)
Gene: PTH1R
Phenotype: Malar flattening (HP:0000272)
Associated disease: BLC; Chondrodysplasia, Blomstrand type; BOCD; Blomstrand chondrodysplasia; Blomstrand lethal chondrodysplasia; Blomstrand osteochondrodysplasia (ORPHA:50945)
Gene: PTH1R
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: EIKEN SYNDROME (OMIM:600002)
Gene: PTH1R
Phenotype: Broad femoral neck (HP:0006429)
Associated disease: EIKEN SYNDROME (OMIM:600002)
Gene: PTH1R
Phenotype: Distal shortening of limbs (HP:0006402)
Associated disease: BLC; Chondrodysplasia, Blomstrand type; BOCD; Blomstrand chondrodysplasia; Blomstrand lethal chondrodysplasia; Blomstrand osteochondrodysplasia (ORPHA:50945)
Gene: PTH1R
Phenotype: Arthralgia (HP:0002829)
Associated disease: Eiken syndrome (ORPHA:79106)
Gene: PTH1R
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Clinodactyly (HP:0030084)
Associated disease: EIKEN SYNDROME (OMIM:600002)
Gene: PTH1R
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE (OMIM:156400)
Gene: PTH1R
Phenotype: Limited elbow flexion (HP:0006376)
Associated disease: Eiken syndrome (ORPHA:79106)
Gene: PTH1R
Phenotype: Multiple impacted teeth (HP:0001571)
Associated disease: EIKEN SYNDROME (OMIM:600002)
Gene: PTH1R
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Brachycephaly (HP:0000248)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE (OMIM:156400)
Gene: PTH1R
Phenotype: High palate (HP:0000218)
Associated disease: Metaphyseal chondrodysplasia, Jansen type (ORPHA:33067)
Gene: PTH1R
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: CHONDRODYSPLASIA, BLOMSTRAND TYPE (OMIM:215045)
Gene: PTH1R
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: BLC; Chondrodysplasia, Blomstrand type; BOCD; Blomstrand chondrodysplasia; Blomstrand lethal chondrodysplasia; Blomstrand osteochondrodysplasia (ORPHA:50945)
Gene: PTH1R
Phenotype: Genu valgum (HP:0002857)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: PTH1R
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTH1R
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: BLC; Chondrodysplasia, Blomstrand type; BOCD; Blomstrand chondrodysplasia; Blomstrand lethal chondrodysplasia; Blomstrand osteochondrodysplasia (ORPHA:50945)
Gene: PTH1R
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTH1R
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTH1R
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Preductal coarctation of the aorta (HP:0005151)
Associated disease: CHONDRODYSPLASIA, BLOMSTRAND TYPE (OMIM:215045)
Gene: PTH1R
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: BLC; Chondrodysplasia, Blomstrand type; BOCD; Blomstrand chondrodysplasia; Blomstrand lethal chondrodysplasia; Blomstrand osteochondrodysplasia (ORPHA:50945)
Gene: PTH1R
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Metaphyseal chondrodysplasia, Jansen type (ORPHA:33067)
Gene: PTH1R
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE (OMIM:156400)
Gene: PTH1R
Phenotype: Hearing impairment (HP:0000365)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE (OMIM:156400)
Gene: PTH1R
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)