TaoMedAI/RareMedData huggingface dataset:
Gene: BTRC
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTRC
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTRC
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTRC
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTRC
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTRC
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTRC
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Oligodactyly (HP:0012165)
Associated disease: Isolated split hand-split foot malformation; Ectrodactyly; Split hand foot malformation; SHFM (ORPHA:2440)
Gene: BTRC
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTRC
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTRC
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTRC
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTRC
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTRC
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTRC
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTRC
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTRC
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTRC
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTRC
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTRC
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTRC
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTRC
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTRC
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTRC
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTRC
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTRC
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTRC
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTRC
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTRC
Phenotype: Hand monodactyly (HP:0004058)
Associated disease: Isolated split hand-split foot malformation; Ectrodactyly; Split hand foot malformation; SHFM (ORPHA:2440)
Gene: BTRC
Phenotype: Absent hand (HP:0004050)
Associated disease: Isolated split hand-split foot malformation; Ectrodactyly; Split hand foot malformation; SHFM (ORPHA:2440)
Gene: BTRC
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Isolated split hand-split foot malformation; Ectrodactyly; Split hand foot malformation; SHFM (ORPHA:2440)
Gene: BTRC
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Aniridia (HP:0000526)
Associated disease: Isolated split hand-split foot malformation; Ectrodactyly; Split hand foot malformation; SHFM (ORPHA:2440)
Gene: BTRC
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTRC
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Split foot (HP:0001839)
Associated disease: Isolated split hand-split foot malformation; Ectrodactyly; Split hand foot malformation; SHFM (ORPHA:2440)
Gene: BTRC
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: P4HA2
Phenotype: Elevated circulating calprotectin concentration (HP:6000502)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: P4HA2
Phenotype: Visual field defect (HP:0001123)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Scalp tenderness (HP:0100809)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Meningitis (HP:0001287)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Ataxia (HP:0001251)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Dysarthria (HP:0001260)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Hepatic failure (HP:0001399)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Arthritis (HP:0001369)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Malaise (HP:0033834)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: P4HA2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: P4HA2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYOPIA 25, AUTOSOMAL DOMINANT (OMIM:617238)
Gene: P4HA2
Phenotype: Cerebral ischemia (HP:0002637)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Vasculitis (HP:0002633)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Aortic dissection (HP:0002647)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: P4HA2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: P4HA2
Phenotype: Nonproductive cough (HP:0031246)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Myalgia (HP:0003326)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Anorexia (HP:0002039)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Elevated circulating osteopontin level (HP:0033123)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Amaurosis fugax (HP:0100576)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Abnormal pleura morphology (HP:0002103)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Hyperfibrinogenemia (HP:0011899)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Paresthesia (HP:0003401)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Recurrent pharyngitis (HP:0100776)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Mediastinal lymphadenopathy (HP:0100721)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Gangrene (HP:0100758)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Visual hallucination (HP:0002367)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Vertigo (HP:0002321)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Headache (HP:0002315)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: P4HA2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MYOPIA 25, AUTOSOMAL DOMINANT (OMIM:617238)
Gene: P4HA2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Diplopia (HP:0000651)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Fever (HP:0001945)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Anemia (HP:0001903)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: P4HA2
Phenotype: Cough (HP:0012735)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Depression (HP:0000716)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: P4HA2
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: P4HA2
Phenotype: Hematuria (HP:0000790)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Arterial thrombosis (HP:0004420)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Polyarticular arthritis (HP:0005764)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Increased circulating interleukin 6 concentration (HP:0030783)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis (HP:0011658)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Alopecia (HP:0001596)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Abdominal aortic aneurysm (HP:0005112)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: P4HA2
Phenotype: Arthralgia (HP:0002829)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Glossitis (HP:0000206)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: P4HA2
Phenotype: Fatigue (HP:0012378)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Gastrointestinal infarctions (HP:0005244)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Impaired mastication (HP:0005216)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: High myopia (HP:0011003)
Associated disease: MYOPIA 25, AUTOSOMAL DOMINANT (OMIM:617238)
Gene: P4HA2
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Jaw claudication (HP:0030164)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Pericarditis (HP:0001701)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Epistaxis (HP:0000421)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Increased alpha-globulin (HP:0005413)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: P4HA2
Phenotype: Weight loss (HP:0001824)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Ptosis (HP:0000508)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Visual impairment (HP:0000505)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: P4HA2
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Visual loss (HP:0000572)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Abnormality of thrombocytes (HP:0001872)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: P4HA2
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MYOPIA 25, AUTOSOMAL DOMINANT (OMIM:617238)
Gene: P4HA2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: P4HA2
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PLOD3
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PLOD3
Phenotype: Visual field defect (HP:0001123)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: PLOD3
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PLOD3
Phenotype: Microtia (HP:0008551)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PLOD3
Phenotype: Motor delay (HP:0001270)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: PLOD3
Phenotype: Gait disturbance (HP:0001288)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: PLOD3
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD3
Phenotype: Hypotonia (HP:0001252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PLOD3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PLOD3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD3
Phenotype: Short femoral neck (HP:0100864)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PLOD3
Phenotype: Multiple carpal ossification centers (HP:0006067)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PLOD3
Phenotype: Multiple carpal ossification centers (HP:0006067)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PLOD3
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PLOD3
Phenotype: Tapered humerus (HP:0003883)
Associated disease: LARSEN SYNDROME (OMIM:150250)