TaoMedAI/RareMedData huggingface dataset:
Gene: ESAM
Phenotype: Nystagmus (HP:0000639)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Retinal arterial tortuosity (HP:0000631)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Amblyopia (HP:0000646)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Iris coloboma (HP:0000612)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Synophrys (HP:0000664)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Decreased body weight (HP:0004325)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Short stature (HP:0004322)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Periventricular leukomalacia (HP:0006970)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Antenatal onset (HP:0030674)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Third trimester onset (HP:0034197)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Second trimester onset (HP:0034198)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Abnormal CNS myelination (HP:0011400)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Reduced cerebral white matter volume (HP:0034295)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Full cheeks (HP:0000293)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: High palate (HP:0000218)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Colpocephaly (HP:0030048)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Small for gestational age (HP:0001518)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Hepatic sinusoidal dilatation (HP:0035006)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Narrow forehead (HP:0000341)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Broad forehead (HP:0000337)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Triangular face (HP:0000325)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Microretrognathia (HP:0000308)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Vitreous hemorrhage (HP:0007902)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Pancreatitis (HP:0001733)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Anteverted nares (HP:0000463)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Abnormal myelination (HP:0012447)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Hammertoe (HP:0001765)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Bulbous nose (HP:0000414)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Partial absence of the septum pellucidum (HP:0030283)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Splenic cyst (HP:0030423)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Long eyelashes (HP:0000527)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Telecanthus (HP:0000506)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Retinal hemorrhage (HP:0000573)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Retinal detachment (HP:0000541)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: CREB3L1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREB3L1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREB3L1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CREB3L1
Phenotype: Hypotonia (HP:0001252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CREB3L1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CREB3L1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREB3L1
Phenotype: Angulated humerus (HP:0003863)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XVI (OMIM:616229)
Gene: CREB3L1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XVI (OMIM:616229)
Gene: CREB3L1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CREB3L1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: J-shaped sella turcica (HP:0002680)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CREB3L1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREB3L1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CREB3L1
Phenotype: Decreased palmar creases (HP:0006184)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CREB3L1
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CREB3L1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREB3L1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CREB3L1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XVI (OMIM:616229)
Gene: CREB3L1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CREB3L1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREB3L1
Phenotype: Scoliosis (HP:0002650)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CREB3L1
Phenotype: Scoliosis (HP:0002650)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CREB3L1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREB3L1
Phenotype: Wormian bones (HP:0002645)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XVI (OMIM:616229)
Gene: CREB3L1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREB3L1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Rhizomelia (HP:0008905)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XVI (OMIM:616229)
Gene: CREB3L1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CREB3L1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CREB3L1
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XVI (OMIM:616229)
Gene: CREB3L1
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CREB3L1
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CREB3L1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CREB3L1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CREB3L1
Phenotype: Thenar muscle atrophy (HP:0003393)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CREB3L1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREB3L1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
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: CREB3L1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CREB3L1
Phenotype: Porencephalic cyst (HP:0002132)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CREB3L1
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CREB3L1
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CREB3L1
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: CREB3L1
Phenotype: Infantile onset (HP:0003593)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CREB3L1
Phenotype: Congenital onset (HP:0003577)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CREB3L1
Phenotype: Congenital onset (HP:0003577)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XVI (OMIM:616229)
Gene: CREB3L1
Phenotype: Coarse hair (HP:0002208)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CREB3L1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CREB3L1
Phenotype: Arterial rupture (HP:0025019)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CREB3L1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREB3L1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CREB3L1
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XVI (OMIM:616229)
Gene: CREB3L1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Iris atrophy (HP:0001089)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CREB3L1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREB3L1
Phenotype: Abnormal prothrombin time (HP:0032199)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CREB3L1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREB3L1
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CREB3L1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREB3L1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREB3L1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREB3L1
Phenotype: Blindness (HP:0000618)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CREB3L1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREB3L1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREB3L1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Phthisis bulbi (HP:0000667)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CREB3L1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Short stature (HP:0004322)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CREB3L1
Phenotype: Short stature (HP:0004322)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XVI (OMIM:616229)
Gene: CREB3L1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREB3L1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREB3L1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Second trimester onset (HP:0034198)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XVI (OMIM:616229)
Gene: CREB3L1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CREB3L1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XVI (OMIM:616229)
Gene: CREB3L1
Phenotype: Short long bone (HP:0003026)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XVI (OMIM:616229)
Gene: CREB3L1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Mesomelia (HP:0003027)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XVI (OMIM:616229)
Gene: CREB3L1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Fetal onset (HP:0011461)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CREB3L1
Phenotype: Narrow chest (HP:0000774)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XVI (OMIM:616229)
Gene: CREB3L1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Diaphragmatic eventration (HP:0009110)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CREB3L1
Phenotype: Short nose (HP:0003196)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CREB3L1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XVI (OMIM:616229)
Gene: CREB3L1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CREB3L1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CREB3L1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREB3L1
Phenotype: Hypoplasia of the capital femoral epiphysis (HP:0003090)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CREB3L1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREB3L1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Severe platyspondyly (HP:0004565)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CREB3L1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREB3L1
Phenotype: Biconcave vertebral bodies (HP:0004586)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)