TaoMedAI/RareMedData huggingface dataset:
Gene: STRADA
Phenotype: Megalencephaly (HP:0001355)
Associated disease: POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY (OMIM:611087)
Gene: STRADA
Phenotype: Absent speech (HP:0001344)
Associated disease: Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome; PMSE syndrome (ORPHA:500533)
Gene: STRADA
Phenotype: Absent speech (HP:0001344)
Associated disease: POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY (OMIM:611087)
Gene: STRADA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY (OMIM:611087)
Gene: STRADA
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY (OMIM:611087)
Gene: STRADA
Phenotype: Open mouth (HP:0000194)
Associated disease: Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome; PMSE syndrome (ORPHA:500533)
Gene: STRADA
Phenotype: Open mouth (HP:0000194)
Associated disease: POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY (OMIM:611087)
Gene: STRADA
Phenotype: Wide mouth (HP:0000154)
Associated disease: Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome; PMSE syndrome (ORPHA:500533)
Gene: STRADA
Phenotype: Wide mouth (HP:0000154)
Associated disease: POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY (OMIM:611087)
Gene: STRADA
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome; PMSE syndrome (ORPHA:500533)
Gene: STRADA
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY (OMIM:611087)
Gene: STRADA
Phenotype: Large forehead (HP:0002003)
Associated disease: POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY (OMIM:611087)
Gene: STRADA
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome; PMSE syndrome (ORPHA:500533)
Gene: STRADA
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY (OMIM:611087)
Gene: STRADA
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome; PMSE syndrome (ORPHA:500533)
Gene: STRADA
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome; PMSE syndrome (ORPHA:500533)
Gene: STRADA
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY (OMIM:611087)
Gene: STRADA
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome; PMSE syndrome (ORPHA:500533)
Gene: STRADA
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome; PMSE syndrome (ORPHA:500533)
Gene: STRADA
Phenotype: Drooling (HP:0002307)
Associated disease: Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome; PMSE syndrome (ORPHA:500533)
Gene: STRADA
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome; PMSE syndrome (ORPHA:500533)
Gene: STRADA
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome; PMSE syndrome (ORPHA:500533)
Gene: STRADA
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome; PMSE syndrome (ORPHA:500533)
Gene: STRADA
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome; PMSE syndrome (ORPHA:500533)
Gene: STRADA
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome; PMSE syndrome (ORPHA:500533)
Gene: STRADA
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome; PMSE syndrome (ORPHA:500533)
Gene: STRADA
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY (OMIM:611087)
Gene: STRADA
Phenotype: Periventricular white matter hyperintensities (HP:0030891)
Associated disease: Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome; PMSE syndrome (ORPHA:500533)
Gene: STRADA
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome; PMSE syndrome (ORPHA:500533)
Gene: STRADA
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY (OMIM:611087)
Gene: STRADA
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome; PMSE syndrome (ORPHA:500533)
Gene: STRADA
Phenotype: Macrocephaly (HP:0000256)
Associated disease: POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY (OMIM:611087)
Gene: STRADA
Phenotype: Narrow face (HP:0000275)
Associated disease: Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome; PMSE syndrome (ORPHA:500533)
Gene: STRADA
Phenotype: Long face (HP:0000276)
Associated disease: POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY (OMIM:611087)
Gene: STRADA
Phenotype: Thick upper lip vermilion (HP:0000215)
Associated disease: POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY (OMIM:611087)
Gene: STRADA
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome; PMSE syndrome (ORPHA:500533)
Gene: STRADA
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY (OMIM:611087)
Gene: STRADA
Phenotype: Slender build (HP:0001533)
Associated disease: POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY (OMIM:611087)
Gene: STRADA
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome; PMSE syndrome (ORPHA:500533)
Gene: STRADA
Phenotype: Hyperplasia of midface (HP:0012371)
Associated disease: POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY (OMIM:611087)
Gene: STRADA
Phenotype: High forehead (HP:0000348)
Associated disease: Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome; PMSE syndrome (ORPHA:500533)
Gene: STRADA
Phenotype: Hypertelorism (HP:0000316)
Associated disease: POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY (OMIM:611087)
Gene: STRADA
Phenotype: Premature birth (HP:0001622)
Associated disease: POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY (OMIM:611087)
Gene: STRADA
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome; PMSE syndrome (ORPHA:500533)
Gene: STRADA
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome; PMSE syndrome (ORPHA:500533)
Gene: STRADA
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY (OMIM:611087)
Gene: STRADA
Phenotype: Interictal epileptiform activity (HP:0011182)
Associated disease: Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome; PMSE syndrome (ORPHA:500533)
Gene: STRADA
Phenotype: Strabismus (HP:0000486)
Associated disease: POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY (OMIM:611087)
Gene: STRADA
Phenotype: Infantile spasms (HP:0012469)
Associated disease: Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome; PMSE syndrome (ORPHA:500533)
Gene: STRADA
Phenotype: Cerebral white matter hypoplasia (HP:0012430)
Associated disease: Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome; PMSE syndrome (ORPHA:500533)
Gene: STRADA
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY (OMIM:611087)
Gene: GORAB
Phenotype: Hyperextensibility of the finger joints (HP:0001187)
Associated disease: GERODERMA OSTEODYSPLASTICUM (OMIM:231070)
Gene: GORAB
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GORAB
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GORAB
Phenotype: Microtia (HP:0008551)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GORAB
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GORAB
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GORAB
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: GORAB
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Geroderma osteodysplastica (ORPHA:2078)
Gene: GORAB
Phenotype: Hypotonia (HP:0001252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: GORAB
Phenotype: Hypotonia (HP:0001252)
Associated disease: Geroderma osteodysplastica (ORPHA:2078)
Gene: GORAB
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GORAB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: GERODERMA OSTEODYSPLASTICUM (OMIM:231070)
Gene: GORAB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GORAB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: GORAB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GORAB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Geroderma osteodysplastica (ORPHA:2078)
Gene: GORAB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: GORAB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GORAB
Phenotype: Neonatal wrinkled skin of hands and feet (HP:0007414)
Associated disease: GERODERMA OSTEODYSPLASTICUM (OMIM:231070)
Gene: GORAB
Phenotype: Short femoral neck (HP:0100864)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GORAB
Phenotype: Multiple carpal ossification centers (HP:0006067)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GORAB
Phenotype: Multiple carpal ossification centers (HP:0006067)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: GORAB
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GORAB
Phenotype: Tapered humerus (HP:0003883)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: GORAB
Phenotype: Spatulate thumbs (HP:0001222)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: GORAB
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GORAB
Phenotype: Waddling gait (HP:0002515)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GORAB
Phenotype: Shoulder dislocation (HP:0003834)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GORAB
Phenotype: Flexion contracture (HP:0001371)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GORAB
Phenotype: Joint dislocation (HP:0001373)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GORAB
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: GORAB
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Geroderma osteodysplastica (ORPHA:2078)
Gene: GORAB
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: GORAB
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GORAB
Phenotype: J-shaped sella turcica (HP:0002680)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: GORAB
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GORAB
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: GORAB
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GORAB
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: GORAB
Phenotype: Decreased palmar creases (HP:0006184)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: GORAB
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: Geroderma osteodysplastica (ORPHA:2078)
Gene: GORAB
Phenotype: Dislocated wrist (HP:0003994)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: GORAB
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: GORAB
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: GERODERMA OSTEODYSPLASTICUM (OMIM:231070)
Gene: GORAB
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GORAB
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GORAB
Phenotype: Spondyloepiphyseal dysplasia (HP:0002655)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GORAB
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GORAB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GERODERMA OSTEODYSPLASTICUM (OMIM:231070)
Gene: GORAB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: GORAB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GORAB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GORAB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: GORAB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: GORAB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GORAB
Phenotype: Scoliosis (HP:0002650)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: GORAB
Phenotype: Scoliosis (HP:0002650)
Associated disease: Geroderma osteodysplastica (ORPHA:2078)
Gene: GORAB
Phenotype: Scoliosis (HP:0002650)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: GORAB
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GORAB
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GORAB
Phenotype: Scoliosis (HP:0002650)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: GORAB
Phenotype: Wormian bones (HP:0002645)
Associated disease: GERODERMA OSTEODYSPLASTICUM (OMIM:231070)
Gene: GORAB
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GORAB
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GORAB
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GORAB
Phenotype: Rhizomelia (HP:0008905)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GORAB
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GORAB
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: GERODERMA OSTEODYSPLASTICUM (OMIM:231070)
Gene: GORAB
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: GORAB
Phenotype: Cleft palate (HP:0000175)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: GORAB
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GORAB
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GORAB
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: GERODERMA OSTEODYSPLASTICUM (OMIM:231070)
Gene: GORAB
Phenotype: Bronchomalacia (HP:0002780)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: GORAB
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: GORAB
Phenotype: Tracheal stenosis (HP:0002777)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: GORAB
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: GORAB
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: GERODERMA OSTEODYSPLASTICUM (OMIM:231070)
Gene: GORAB
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Geroderma osteodysplastica (ORPHA:2078)
Gene: GORAB
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: GORAB
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: GORAB
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GORAB
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: GORAB
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: GERODERMA OSTEODYSPLASTICUM (OMIM:231070)
Gene: GORAB
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GORAB
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: GORAB
Phenotype: Frontal bossing (HP:0002007)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: GORAB
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Geroderma osteodysplastica (ORPHA:2078)
Gene: GORAB
Phenotype: Spondylolysis (HP:0003304)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: GORAB
Phenotype: Irregular vertebral endplates (HP:0003301)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GORAB
Phenotype: Irregular vertebral endplates (HP:0003301)
Associated disease: GERODERMA OSTEODYSPLASTICUM (OMIM:231070)
Gene: GORAB
Phenotype: Midface retrusion (HP:0011800)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: GORAB
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GORAB
Phenotype: Thenar muscle atrophy (HP:0003393)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: GORAB
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GORAB
Phenotype: Tricuspid stenosis (HP:0010446)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GORAB
Phenotype: Bipartite calcaneus (HP:0008127)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: GORAB
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GORAB
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Geroderma osteodysplastica (ORPHA:2078)
Gene: GORAB
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: GORAB
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: GORAB
Phenotype: Porencephalic cyst (HP:0002132)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: GORAB
Phenotype: Coronal cleft vertebrae (HP:0003417)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GORAB
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GORAB
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: GORAB
Phenotype: Spinal cord compression (HP:0002176)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: GORAB
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GORAB
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: GORAB
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: GORAB
Phenotype: Abnormal bone ossification (HP:0011849)
Associated disease: Geroderma osteodysplastica (ORPHA:2078)
Gene: GORAB
Phenotype: Small epiphyses (HP:0010585)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GORAB
Phenotype: Infantile onset (HP:0003593)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: GORAB
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GORAB
Phenotype: Congenital onset (HP:0003577)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: GORAB
Phenotype: Congenital onset (HP:0003577)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GORAB
Phenotype: Congenital onset (HP:0003577)
Associated disease: GERODERMA OSTEODYSPLASTICUM (OMIM:231070)
Gene: GORAB
Phenotype: Coarse hair (HP:0002208)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: GORAB
Phenotype: Hernia (HP:0100790)
Associated disease: Geroderma osteodysplastica (ORPHA:2078)
Gene: GORAB
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GORAB
Phenotype: Severe short stature (HP:0003510)
Associated disease: GERODERMA OSTEODYSPLASTICUM (OMIM:231070)
Gene: GORAB
Phenotype: Severe short stature (HP:0003510)
Associated disease: Geroderma osteodysplastica (ORPHA:2078)
Gene: GORAB
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: GORAB
Phenotype: Arterial rupture (HP:0025019)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: GORAB
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)