TaoMedAI/RareMedData huggingface dataset:
Gene: P4HA1
Phenotype: Mitral stenosis (HP:0001718)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: P4HA1
Phenotype: Ventricular hypertrophy (HP:0001714)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: P4HA1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: P4HA1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P4HA1
Phenotype: Short neck (HP:0000470)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: P4HA1
Phenotype: Short nail (HP:0001799)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: P4HA1
Phenotype: Talipes equinovalgus (HP:0001772)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: P4HA1
Phenotype: Pes planus (HP:0001763)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: P4HA1
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P4HA1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: P4HA1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: P4HA1
Phenotype: Cataract (HP:0000518)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: P4HA1
Phenotype: Cataract (HP:0000518)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P4HA1
Phenotype: Shallow orbits (HP:0000586)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: P4HA1
Phenotype: Shallow orbits (HP:0000586)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P4HA1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: P4HA1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: P4HA1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P4HA1
Phenotype: Myopia (HP:0000545)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P4HB
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: P4HB
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: P4HB
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: P4HB
Phenotype: Hypotonia (HP:0001252)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: P4HB
Phenotype: Hypotonia (HP:0001252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: P4HB
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COLE-CARPENTER SYNDROME 1 (OMIM:112240)
Gene: P4HB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: P4HB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P4HB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: P4HB
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: P4HB
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: P4HB
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: J-shaped sella turcica (HP:0002680)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P4HB
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: P4HB
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P4HB
Phenotype: Decreased palmar creases (HP:0006184)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P4HB
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: P4HB
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: P4HB
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: P4HB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P4HB
Phenotype: Communicating hydrocephalus (HP:0001334)
Associated disease: COLE-CARPENTER SYNDROME 1 (OMIM:112240)
Gene: P4HB
Phenotype: Communicating hydrocephalus (HP:0001334)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: P4HB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COLE-CARPENTER SYNDROME 1 (OMIM:112240)
Gene: P4HB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: P4HB
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: P4HB
Phenotype: Scoliosis (HP:0002650)
Associated disease: COLE-CARPENTER SYNDROME 1 (OMIM:112240)
Gene: P4HB
Phenotype: Scoliosis (HP:0002650)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: P4HB
Phenotype: Scoliosis (HP:0002650)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P4HB
Phenotype: Scoliosis (HP:0002650)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: P4HB
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: P4HB
Phenotype: Wormian bones (HP:0002645)
Associated disease: COLE-CARPENTER SYNDROME 1 (OMIM:112240)
Gene: P4HB
Phenotype: Wormian bones (HP:0002645)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: P4HB
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: P4HB
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Popcorn calcification (HP:6000871)
Associated disease: COLE-CARPENTER SYNDROME 1 (OMIM:112240)
Gene: P4HB
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P4HB
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: P4HB
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: P4HB
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: COLE-CARPENTER SYNDROME 1 (OMIM:112240)
Gene: P4HB
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: P4HB
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P4HB
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: P4HB
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P4HB
Phenotype: Frontal bossing (HP:0002007)
Associated disease: COLE-CARPENTER SYNDROME 1 (OMIM:112240)
Gene: P4HB
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: P4HB
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: P4HB
Phenotype: Midface retrusion (HP:0011800)
Associated disease: COLE-CARPENTER SYNDROME 1 (OMIM:112240)
Gene: P4HB
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: P4HB
Phenotype: Thenar muscle atrophy (HP:0003393)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P4HB
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: P4HB
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
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: P4HB
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P4HB
Phenotype: Porencephalic cyst (HP:0002132)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P4HB
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P4HB
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P4HB
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: P4HB
Phenotype: Infantile onset (HP:0003593)
Associated disease: COLE-CARPENTER SYNDROME 1 (OMIM:112240)
Gene: P4HB
Phenotype: Infantile onset (HP:0003593)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: P4HB
Phenotype: Congenital onset (HP:0003577)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: P4HB
Phenotype: Coarse hair (HP:0002208)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P4HB
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: P4HB
Phenotype: Arterial rupture (HP:0025019)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P4HB
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: P4HB
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P4HB
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Iris atrophy (HP:0001089)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: P4HB
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: P4HB
Phenotype: Abnormal prothrombin time (HP:0032199)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P4HB
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: P4HB
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P4HB
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: P4HB
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: P4HB
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: P4HB
Phenotype: Blindness (HP:0000618)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: P4HB
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: P4HB
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: P4HB
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: P4HB
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Microdontia (HP:0000691)
Associated disease: COLE-CARPENTER SYNDROME 1 (OMIM:112240)
Gene: P4HB
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: P4HB
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Phthisis bulbi (HP:0000667)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: P4HB
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Short stature (HP:0004322)
Associated disease: COLE-CARPENTER SYNDROME 1 (OMIM:112240)
Gene: P4HB
Phenotype: Short stature (HP:0004322)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: P4HB
Phenotype: Short stature (HP:0004322)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: P4HB
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: P4HB
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: P4HB
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: P4HB
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: COLE-CARPENTER SYNDROME 1 (OMIM:112240)
Gene: P4HB
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: P4HB
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Dentinogenesis imperfecta (HP:0000703)
Associated disease: COLE-CARPENTER SYNDROME 1 (OMIM:112240)
Gene: P4HB
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Fetal onset (HP:0011461)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P4HB
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Diaphragmatic eventration (HP:0009110)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P4HB
Phenotype: Coronal craniosynostosis (HP:0004440)
Associated disease: COLE-CARPENTER SYNDROME 1 (OMIM:112240)
Gene: P4HB
Phenotype: Short nose (HP:0003196)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P4HB
Phenotype: Platyspondyly (HP:0000926)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: P4HB
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Platyspondyly (HP:0000926)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P4HB
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: P4HB
Phenotype: Hypoplasia of the capital femoral epiphysis (HP:0003090)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P4HB
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: P4HB
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Severe platyspondyly (HP:0004565)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: P4HB
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: P4HB
Phenotype: Biconcave vertebral bodies (HP:0004586)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: P4HB
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P4HB
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Osteoporosis (HP:0000939)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: P4HB
Phenotype: Osteopenia (HP:0000938)
Associated disease: COLE-CARPENTER SYNDROME 1 (OMIM:112240)
Gene: P4HB
Phenotype: Osteopenia (HP:0000938)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: P4HB
Phenotype: Osteopenia (HP:0000938)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P4HB
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: P4HB
Phenotype: Absent anterior chamber of the eye (HP:0008037)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: P4HB
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Turricephaly (HP:0000262)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: P4HB
Phenotype: Malar flattening (HP:0000272)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P4HB
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: P4HB
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Kyphosis (HP:0002808)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: P4HB
Phenotype: Kyphosis (HP:0002808)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: P4HB
Phenotype: Crumpled long bones (HP:0006367)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: P4HB
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: COLE-CARPENTER SYNDROME 1 (OMIM:112240)
Gene: P4HB
Phenotype: Microcephaly (HP:0000252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: P4HB
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: P4HB
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: P4HB
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: P4HB
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: P4HB
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P4HB
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: P4HB
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P4HB
Phenotype: Flat face (HP:0012368)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P4HB
Phenotype: Exudative retinopathy (HP:0007898)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: P4HB
Phenotype: Congenital blindness (HP:0007875)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: P4HB
Phenotype: Retinal calcification (HP:0007862)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)