TaoMedAI/RareMedData huggingface dataset:
Gene: LIFR
Phenotype: Recurrent infections (HP:0002719)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LIFR
Phenotype: Talipes valgus (HP:0004684)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Dysphagia (HP:0002015)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Frontal bossing (HP:0002007)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Ovoid vertebral bodies (HP:0003300)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Midface retrusion (HP:0011800)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Stüve-Wiedemann syndrome; Schwartz-Jampel syndrome type 2; STWS; Stüve-Wiedemann dysplasia; SWS; Stüve-Wiedemann syndrome type 1; SJS2; Neonatal Schwartz-Jampel syndrome (ORPHA:3206)
Gene: LIFR
Phenotype: Asthma (HP:0002099)
Associated disease: Stüve-Wiedemann syndrome; Schwartz-Jampel syndrome type 2; STWS; Stüve-Wiedemann dysplasia; SWS; Stüve-Wiedemann syndrome type 1; SJS2; Neonatal Schwartz-Jampel syndrome (ORPHA:3206)
Gene: LIFR
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Thenar muscle atrophy (HP:0003393)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LIFR
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LIFR
Phenotype: Ulnar deviation of finger (HP:0009465)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Contracture of the proximal interphalangeal joint of the 3rd finger (HP:0009471)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LIFR
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LIFR
Phenotype: Porencephalic cyst (HP:0002132)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LIFR
Phenotype: Apnea (HP:0002104)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Apnea (HP:0002104)
Associated disease: Stüve-Wiedemann syndrome; Schwartz-Jampel syndrome type 2; STWS; Stüve-Wiedemann dysplasia; SWS; Stüve-Wiedemann syndrome type 1; SJS2; Neonatal Schwartz-Jampel syndrome (ORPHA:3206)
Gene: LIFR
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LIFR
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Stüve-Wiedemann syndrome; Schwartz-Jampel syndrome type 2; STWS; Stüve-Wiedemann dysplasia; SWS; Stüve-Wiedemann syndrome type 1; SJS2; Neonatal Schwartz-Jampel syndrome (ORPHA:3206)
Gene: LIFR
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LIFR
Phenotype: Contracture of the proximal interphalangeal joint of the 2nd finger (HP:0009540)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LIFR
Phenotype: Paresthesia (HP:0003401)
Associated disease: Stüve-Wiedemann syndrome; Schwartz-Jampel syndrome type 2; STWS; Stüve-Wiedemann dysplasia; SWS; Stüve-Wiedemann syndrome type 1; SJS2; Neonatal Schwartz-Jampel syndrome (ORPHA:3206)
Gene: LIFR
Phenotype: Infantile onset (HP:0003593)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LIFR
Phenotype: Congenital onset (HP:0003577)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LIFR
Phenotype: Congenital onset (HP:0003577)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Coarse hair (HP:0002208)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LIFR
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Milia (HP:0001056)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LIFR
Phenotype: Arterial rupture (HP:0025019)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LIFR
Phenotype: Metaphyseal rarefaction (HP:0004980)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LIFR
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LIFR
Phenotype: Premature skin wrinkling (HP:0100678)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Iris atrophy (HP:0001089)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LIFR
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LIFR
Phenotype: Low hanging columella (HP:0009765)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Abnormal prothrombin time (HP:0032199)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LIFR
Phenotype: Pulmonary arterial medial hypertrophy (HP:0004964)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LIFR
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LIFR
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LIFR
Phenotype: Absent patellar reflexes (HP:0006844)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Absent patellar reflexes (HP:0006844)
Associated disease: Stüve-Wiedemann syndrome; Schwartz-Jampel syndrome type 2; STWS; Stüve-Wiedemann dysplasia; SWS; Stüve-Wiedemann syndrome type 1; SJS2; Neonatal Schwartz-Jampel syndrome (ORPHA:3206)
Gene: LIFR
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Decreased lacrimation (HP:0000633)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Lacrimation abnormality (HP:0000632)
Associated disease: Stüve-Wiedemann syndrome; Schwartz-Jampel syndrome type 2; STWS; Stüve-Wiedemann dysplasia; SWS; Stüve-Wiedemann syndrome type 1; SJS2; Neonatal Schwartz-Jampel syndrome (ORPHA:3206)
Gene: LIFR
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LIFR
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LIFR
Phenotype: Blindness (HP:0000618)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LIFR
Phenotype: Fever (HP:0001945)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Recurrent fever (HP:0001954)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Recurrent fever (HP:0001954)
Associated disease: Stüve-Wiedemann syndrome; Schwartz-Jampel syndrome type 2; STWS; Stüve-Wiedemann dysplasia; SWS; Stüve-Wiedemann syndrome type 1; SJS2; Neonatal Schwartz-Jampel syndrome (ORPHA:3206)
Gene: LIFR
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LIFR
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LIFR
Phenotype: Carious teeth (HP:0000670)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Phthisis bulbi (HP:0000667)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LIFR
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Short stature (HP:0004322)
Associated disease: Stüve-Wiedemann syndrome; Schwartz-Jampel syndrome type 2; STWS; Stüve-Wiedemann dysplasia; SWS; Stüve-Wiedemann syndrome type 1; SJS2; Neonatal Schwartz-Jampel syndrome (ORPHA:3206)
Gene: LIFR
Phenotype: Short stature (HP:0004322)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LIFR
Phenotype: Short stature (HP:0004322)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LIFR
Phenotype: Enlarged joints (HP:0003037)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LIFR
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Abnormality of temperature regulation (HP:0004370)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LIFR
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: Stüve-Wiedemann syndrome; Schwartz-Jampel syndrome type 2; STWS; Stüve-Wiedemann dysplasia; SWS; Stüve-Wiedemann syndrome type 1; SJS2; Neonatal Schwartz-Jampel syndrome (ORPHA:3206)
Gene: LIFR
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Short long bone (HP:0003026)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Ectopic thyroid (HP:0100028)
Associated disease: Stüve-Wiedemann syndrome; Schwartz-Jampel syndrome type 2; STWS; Stüve-Wiedemann dysplasia; SWS; Stüve-Wiedemann syndrome type 1; SJS2; Neonatal Schwartz-Jampel syndrome (ORPHA:3206)
Gene: LIFR
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Contracture of the proximal interphalangeal joint of the 5th finger (HP:0009185)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Flexion contracture of finger (HP:0012785)
Associated disease: Stüve-Wiedemann syndrome; Schwartz-Jampel syndrome type 2; STWS; Stüve-Wiedemann dysplasia; SWS; Stüve-Wiedemann syndrome type 1; SJS2; Neonatal Schwartz-Jampel syndrome (ORPHA:3206)
Gene: LIFR
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Fetal onset (HP:0011461)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LIFR
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Diaphragmatic eventration (HP:0009110)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LIFR
Phenotype: Abnormal cortical bone morphology (HP:0003103)
Associated disease: Stüve-Wiedemann syndrome; Schwartz-Jampel syndrome type 2; STWS; Stüve-Wiedemann dysplasia; SWS; Stüve-Wiedemann syndrome type 1; SJS2; Neonatal Schwartz-Jampel syndrome (ORPHA:3206)
Gene: LIFR
Phenotype: Short tibia (HP:0005736)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Short nose (HP:0003196)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Short nose (HP:0003196)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LIFR
Phenotype: Platyspondyly (HP:0000926)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LIFR
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Platyspondyly (HP:0000926)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LIFR
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LIFR
Phenotype: Thin ribs (HP:0000883)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Wide nasal base (HP:0012810)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Hypoplasia of the capital femoral epiphysis (HP:0003090)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LIFR
Phenotype: Absent corneal reflex (HP:0034252)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Stüve-Wiedemann syndrome; Schwartz-Jampel syndrome type 2; STWS; Stüve-Wiedemann dysplasia; SWS; Stüve-Wiedemann syndrome type 1; SJS2; Neonatal Schwartz-Jampel syndrome (ORPHA:3206)
Gene: LIFR
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LIFR
Phenotype: Smooth tongue (HP:0010298)
Associated disease: Stüve-Wiedemann syndrome; Schwartz-Jampel syndrome type 2; STWS; Stüve-Wiedemann dysplasia; SWS; Stüve-Wiedemann syndrome type 1; SJS2; Neonatal Schwartz-Jampel syndrome (ORPHA:3206)
Gene: LIFR
Phenotype: Smooth tongue (HP:0010298)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Severe platyspondyly (HP:0004565)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LIFR
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LIFR
Phenotype: Flexion contracture of toe (HP:0005830)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Biconcave vertebral bodies (HP:0004586)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LIFR
Phenotype: Decreased corneal reflex (HP:0008000)
Associated disease: Stüve-Wiedemann syndrome; Schwartz-Jampel syndrome type 2; STWS; Stüve-Wiedemann dysplasia; SWS; Stüve-Wiedemann syndrome type 1; SJS2; Neonatal Schwartz-Jampel syndrome (ORPHA:3206)
Gene: LIFR
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Stüve-Wiedemann syndrome; Schwartz-Jampel syndrome type 2; STWS; Stüve-Wiedemann dysplasia; SWS; Stüve-Wiedemann syndrome type 1; SJS2; Neonatal Schwartz-Jampel syndrome (ORPHA:3206)
Gene: LIFR
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LIFR
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: Stüve-Wiedemann syndrome; Schwartz-Jampel syndrome type 2; STWS; Stüve-Wiedemann dysplasia; SWS; Stüve-Wiedemann syndrome type 1; SJS2; Neonatal Schwartz-Jampel syndrome (ORPHA:3206)
Gene: LIFR
Phenotype: Sacral dimple (HP:0000960)
Associated disease: Stüve-Wiedemann syndrome; Schwartz-Jampel syndrome type 2; STWS; Stüve-Wiedemann dysplasia; SWS; Stüve-Wiedemann syndrome type 1; SJS2; Neonatal Schwartz-Jampel syndrome (ORPHA:3206)
Gene: LIFR
Phenotype: Thin skin (HP:0000963)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Stüve-Wiedemann syndrome; Schwartz-Jampel syndrome type 2; STWS; Stüve-Wiedemann dysplasia; SWS; Stüve-Wiedemann syndrome type 1; SJS2; Neonatal Schwartz-Jampel syndrome (ORPHA:3206)
Gene: LIFR
Phenotype: Osteoporosis (HP:0000939)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LIFR
Phenotype: Osteoporosis (HP:0000939)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Thickened cortex of long bones (HP:0000935)
Associated disease: Stüve-Wiedemann syndrome; Schwartz-Jampel syndrome type 2; STWS; Stüve-Wiedemann dysplasia; SWS; Stüve-Wiedemann syndrome type 1; SJS2; Neonatal Schwartz-Jampel syndrome (ORPHA:3206)
Gene: LIFR
Phenotype: Thickened cortex of long bones (HP:0000935)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Osteopenia (HP:0000938)
Associated disease: Stüve-Wiedemann syndrome; Schwartz-Jampel syndrome type 2; STWS; Stüve-Wiedemann dysplasia; SWS; Stüve-Wiedemann syndrome type 1; SJS2; Neonatal Schwartz-Jampel syndrome (ORPHA:3206)
Gene: LIFR
Phenotype: Osteopenia (HP:0000938)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LIFR
Phenotype: Osteopenia (HP:0000938)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LIFR
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Stüve-Wiedemann syndrome; Schwartz-Jampel syndrome type 2; STWS; Stüve-Wiedemann dysplasia; SWS; Stüve-Wiedemann syndrome type 1; SJS2; Neonatal Schwartz-Jampel syndrome (ORPHA:3206)
Gene: LIFR
Phenotype: Sparse hair (HP:0008070)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Absent anterior chamber of the eye (HP:0008037)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LIFR
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Full cheeks (HP:0000293)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Malar flattening (HP:0000272)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Malar flattening (HP:0000272)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LIFR
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LIFR
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Abnormal metaphyseal trabeculation (HP:0005089)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Kyphosis (HP:0002808)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LIFR
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: Stüve-Wiedemann syndrome; Schwartz-Jampel syndrome type 2; STWS; Stüve-Wiedemann dysplasia; SWS; Stüve-Wiedemann syndrome type 1; SJS2; Neonatal Schwartz-Jampel syndrome (ORPHA:3206)
Gene: LIFR
Phenotype: Microcephaly (HP:0000252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LIFR
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LIFR
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Stüve-Wiedemann syndrome; Schwartz-Jampel syndrome type 2; STWS; Stüve-Wiedemann dysplasia; SWS; Stüve-Wiedemann syndrome type 1; SJS2; Neonatal Schwartz-Jampel syndrome (ORPHA:3206)
Gene: LIFR
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LIFR
Phenotype: Genu valgum (HP:0002857)
Associated disease: Stüve-Wiedemann syndrome; Schwartz-Jampel syndrome type 2; STWS; Stüve-Wiedemann dysplasia; SWS; Stüve-Wiedemann syndrome type 1; SJS2; Neonatal Schwartz-Jampel syndrome (ORPHA:3206)
Gene: LIFR
Phenotype: Death in infancy (HP:0001522)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Trismus (HP:0000211)
Associated disease: Stüve-Wiedemann syndrome; Schwartz-Jampel syndrome type 2; STWS; Stüve-Wiedemann dysplasia; SWS; Stüve-Wiedemann syndrome type 1; SJS2; Neonatal Schwartz-Jampel syndrome (ORPHA:3206)
Gene: LIFR
Phenotype: Pursed lips (HP:0000205)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LIFR
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Stüve-Wiedemann syndrome; Schwartz-Jampel syndrome type 2; STWS; Stüve-Wiedemann dysplasia; SWS; Stüve-Wiedemann syndrome type 1; SJS2; Neonatal Schwartz-Jampel syndrome (ORPHA:3206)
Gene: LIFR
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LIFR
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)