TaoMedAI/RareMedData huggingface dataset:
Gene: FKBP10
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FKBP10
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FKBP10
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: FKBP10
Phenotype: Aplasia/Hypoplasia of the radius (HP:0006501)
Associated disease: Arthrogryposis-like syndrome; Kuskokwim syndrome; Kuskokwim disease (ORPHA:1149)
Gene: FKBP10
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FKBP10
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FKBP10
Phenotype: Flat face (HP:0012368)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: FKBP10
Phenotype: Exudative retinopathy (HP:0007898)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: FKBP10
Phenotype: Congenital blindness (HP:0007875)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: FKBP10
Phenotype: Retinal calcification (HP:0007862)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: FKBP10
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FKBP10
Phenotype: Aplasia/Hypoplasia of the patella (HP:0006498)
Associated disease: Arthrogryposis-like syndrome; Kuskokwim syndrome; Kuskokwim disease (ORPHA:1149)
Gene: FKBP10
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Osteogenesis imperfecta-congenital joint contractures syndrome; Bruck syndrome (ORPHA:2771)
Gene: FKBP10
Phenotype: Hearing impairment (HP:0000365)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XI (OMIM:610968)
Gene: FKBP10
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FKBP10
Phenotype: Hearing abnormality (HP:0000364)
Associated disease: BRUCK SYNDROME 1 (OMIM:259450)
Gene: FKBP10
Phenotype: Low-set ears (HP:0000369)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: FKBP10
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FKBP10
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FKBP10
Phenotype: Tibial bowing (HP:0002982)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: FKBP10
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FKBP10
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: FKBP10
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: BRUCK SYNDROME 1 (OMIM:259450)
Gene: FKBP10
Phenotype: Triangular face (HP:0000325)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XI (OMIM:610968)
Gene: FKBP10
Phenotype: Triangular face (HP:0000325)
Associated disease: Osteogenesis imperfecta-congenital joint contractures syndrome; Bruck syndrome (ORPHA:2771)
Gene: FKBP10
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: FKBP10
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XI (OMIM:610968)
Gene: FKBP10
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: FKBP10
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FKBP10
Phenotype: Pointed chin (HP:0000307)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: FKBP10
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FKBP10
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: FKBP10
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FKBP10
Phenotype: Anteverted nares (HP:0000463)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: FKBP10
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FKBP10
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FKBP10
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FKBP10
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: FKBP10
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: BRUCK SYNDROME 1 (OMIM:259450)
Gene: FKBP10
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Osteogenesis imperfecta-congenital joint contractures syndrome; Bruck syndrome (ORPHA:2771)
Gene: FKBP10
Phenotype: Cataract (HP:0000518)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: FKBP10
Phenotype: Cataract (HP:0000518)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: FKBP10
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FKBP10
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FKBP10
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FKBP10
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FKBP10
Phenotype: Blue sclerae (HP:0000592)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XI (OMIM:610968)
Gene: FKBP10
Phenotype: Abnormal sclera morphology (HP:0000591)
Associated disease: BRUCK SYNDROME 1 (OMIM:259450)
Gene: FKBP10
Phenotype: Shallow orbits (HP:0000586)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: FKBP10
Phenotype: Microphthalmia (HP:0000568)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: FKBP10
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FKBP10
Phenotype: Talipes (HP:0001883)
Associated disease: Arthrogryposis-like syndrome; Kuskokwim syndrome; Kuskokwim disease (ORPHA:1149)
Gene: FKBP10
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FKBP10
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: FKBP10
Phenotype: Myopia (HP:0000545)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TRAPPC11
Phenotype: Hyperkinetic movements (HP:0002487)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Gene: TRAPPC11
Phenotype: Hyperkinetic movements (HP:0002487)
Associated disease: Intellectual disability-hyperkinetic movement-truncal ataxia syndrome (ORPHA:369847)
Gene: TRAPPC11
Phenotype: Poor speech (HP:0002465)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Gene: TRAPPC11
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Gene: TRAPPC11
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: LGMD2S; LGMD type 2S; TRAPPC11-related LGMD R18; Autosomal recessive limb-girdle muscular dystrophy type 2S; Limb-girdle muscular dystrophy type 2S; TRAPPC11-related limb-girdle muscular dystrophy R18 (ORPHA:369840)
Gene: TRAPPC11
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Gene: TRAPPC11
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Gene: TRAPPC11
Phenotype: Gait disturbance (HP:0001288)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Gene: TRAPPC11
Phenotype: Gait disturbance (HP:0001288)
Associated disease: LGMD2S; LGMD type 2S; TRAPPC11-related LGMD R18; Autosomal recessive limb-girdle muscular dystrophy type 2S; Limb-girdle muscular dystrophy type 2S; TRAPPC11-related limb-girdle muscular dystrophy R18 (ORPHA:369840)
Gene: TRAPPC11
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Intellectual disability-hyperkinetic movement-truncal ataxia syndrome (ORPHA:369847)
Gene: TRAPPC11
Phenotype: Seizure (HP:0001250)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Gene: TRAPPC11
Phenotype: Seizure (HP:0001250)
Associated disease: Intellectual disability-hyperkinetic movement-truncal ataxia syndrome (ORPHA:369847)
Gene: TRAPPC11
Phenotype: Hypotonia (HP:0001252)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Gene: TRAPPC11
Phenotype: Hypotonia (HP:0001252)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: TRAPPC11
Phenotype: Ataxia (HP:0001251)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Gene: TRAPPC11
Phenotype: Ataxia (HP:0001251)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: TRAPPC11
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Gene: TRAPPC11
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: TRAPPC11
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Intellectual disability-hyperkinetic movement-truncal ataxia syndrome (ORPHA:369847)
Gene: TRAPPC11
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: LGMD2S; LGMD type 2S; TRAPPC11-related LGMD R18; Autosomal recessive limb-girdle muscular dystrophy type 2S; Limb-girdle muscular dystrophy type 2S; TRAPPC11-related limb-girdle muscular dystrophy R18 (ORPHA:369840)
Gene: TRAPPC11
Phenotype: Dysarthria (HP:0001260)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Gene: TRAPPC11
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Gene: TRAPPC11
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Intellectual disability-hyperkinetic movement-truncal ataxia syndrome (ORPHA:369847)
Gene: TRAPPC11
Phenotype: Achalasia (HP:0002571)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Gene: TRAPPC11
Phenotype: Achalasia (HP:0002571)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: TRAPPC11
Phenotype: Generalized hyperpigmentation (HP:0007440)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: TRAPPC11
Phenotype: Impaired cortisol response to corticotropin releasing hormone stimulation test (HP:0031078)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: TRAPPC11
Phenotype: Inability to walk (HP:0002540)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Gene: TRAPPC11
Phenotype: Waddling gait (HP:0002515)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Gene: TRAPPC11
Phenotype: Waddling gait (HP:0002515)
Associated disease: LGMD2S; LGMD type 2S; TRAPPC11-related LGMD R18; Autosomal recessive limb-girdle muscular dystrophy type 2S; Limb-girdle muscular dystrophy type 2S; TRAPPC11-related limb-girdle muscular dystrophy R18 (ORPHA:369840)
Gene: TRAPPC11
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Gene: TRAPPC11
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: LGMD2S; LGMD type 2S; TRAPPC11-related LGMD R18; Autosomal recessive limb-girdle muscular dystrophy type 2S; Limb-girdle muscular dystrophy type 2S; TRAPPC11-related limb-girdle muscular dystrophy R18 (ORPHA:369840)
Gene: TRAPPC11
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Gene: TRAPPC11
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: TRAPPC11
Phenotype: Exophoria (HP:0025313)
Associated disease: LGMD2S; LGMD type 2S; TRAPPC11-related LGMD R18; Autosomal recessive limb-girdle muscular dystrophy type 2S; Limb-girdle muscular dystrophy type 2S; TRAPPC11-related limb-girdle muscular dystrophy R18 (ORPHA:369840)
Gene: TRAPPC11
Phenotype: Plantar hyperkeratosis (HP:0007556)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: TRAPPC11
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: TRAPPC11
Phenotype: Dystonia (HP:0001332)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Gene: TRAPPC11
Phenotype: Absent speech (HP:0001344)
Associated disease: LGMD2S; LGMD type 2S; TRAPPC11-related LGMD R18; Autosomal recessive limb-girdle muscular dystrophy type 2S; Limb-girdle muscular dystrophy type 2S; TRAPPC11-related limb-girdle muscular dystrophy R18 (ORPHA:369840)
Gene: TRAPPC11
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Gene: TRAPPC11
Phenotype: Tremor (HP:0001337)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Gene: TRAPPC11
Phenotype: Scoliosis (HP:0002650)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Gene: TRAPPC11
Phenotype: Scoliosis (HP:0002650)
Associated disease: Intellectual disability-hyperkinetic movement-truncal ataxia syndrome (ORPHA:369847)
Gene: TRAPPC11
Phenotype: Hypotension (HP:0002615)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: TRAPPC11
Phenotype: Floppy infant (HP:0008947)
Associated disease: LGMD2S; LGMD type 2S; TRAPPC11-related LGMD R18; Autosomal recessive limb-girdle muscular dystrophy type 2S; Limb-girdle muscular dystrophy type 2S; TRAPPC11-related limb-girdle muscular dystrophy R18 (ORPHA:369840)
Gene: TRAPPC11
Phenotype: Floppy infant (HP:0008947)
Associated disease: Intellectual disability-hyperkinetic movement-truncal ataxia syndrome (ORPHA:369847)
Gene: TRAPPC11
Phenotype: Myalgia (HP:0003326)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Gene: TRAPPC11
Phenotype: Myalgia (HP:0003326)
Associated disease: LGMD2S; LGMD type 2S; TRAPPC11-related LGMD R18; Autosomal recessive limb-girdle muscular dystrophy type 2S; Limb-girdle muscular dystrophy type 2S; TRAPPC11-related limb-girdle muscular dystrophy R18 (ORPHA:369840)
Gene: TRAPPC11
Phenotype: Myalgia (HP:0003326)
Associated disease: Intellectual disability-hyperkinetic movement-truncal ataxia syndrome (ORPHA:369847)
Gene: TRAPPC11
Phenotype: Vomiting (HP:0002013)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: TRAPPC11
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Gene: TRAPPC11
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: LGMD2S; LGMD type 2S; TRAPPC11-related LGMD R18; Autosomal recessive limb-girdle muscular dystrophy type 2S; Limb-girdle muscular dystrophy type 2S; TRAPPC11-related limb-girdle muscular dystrophy R18 (ORPHA:369840)
Gene: TRAPPC11
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: TRAPPC11
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: LGMD2S; LGMD type 2S; TRAPPC11-related LGMD R18; Autosomal recessive limb-girdle muscular dystrophy type 2S; Limb-girdle muscular dystrophy type 2S; TRAPPC11-related limb-girdle muscular dystrophy R18 (ORPHA:369840)
Gene: TRAPPC11
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: Intellectual disability-hyperkinetic movement-truncal ataxia syndrome (ORPHA:369847)
Gene: TRAPPC11
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: LGMD2S; LGMD type 2S; TRAPPC11-related LGMD R18; Autosomal recessive limb-girdle muscular dystrophy type 2S; Limb-girdle muscular dystrophy type 2S; TRAPPC11-related limb-girdle muscular dystrophy R18 (ORPHA:369840)
Gene: TRAPPC11
Phenotype: Muscle spasm (HP:0003394)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Gene: TRAPPC11
Phenotype: Muscle spasm (HP:0003394)
Associated disease: LGMD2S; LGMD type 2S; TRAPPC11-related LGMD R18; Autosomal recessive limb-girdle muscular dystrophy type 2S; Limb-girdle muscular dystrophy type 2S; TRAPPC11-related limb-girdle muscular dystrophy R18 (ORPHA:369840)
Gene: TRAPPC11
Phenotype: Gowers sign (HP:0003391)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Gene: TRAPPC11
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Gene: TRAPPC11
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: LGMD2S; LGMD type 2S; TRAPPC11-related LGMD R18; Autosomal recessive limb-girdle muscular dystrophy type 2S; Limb-girdle muscular dystrophy type 2S; TRAPPC11-related limb-girdle muscular dystrophy R18 (ORPHA:369840)
Gene: TRAPPC11
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: Intellectual disability-hyperkinetic movement-truncal ataxia syndrome (ORPHA:369847)
Gene: TRAPPC11
Phenotype: Chorea (HP:0002072)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Gene: TRAPPC11
Phenotype: Chorea (HP:0002072)
Associated disease: LGMD2S; LGMD type 2S; TRAPPC11-related LGMD R18; Autosomal recessive limb-girdle muscular dystrophy type 2S; Limb-girdle muscular dystrophy type 2S; TRAPPC11-related limb-girdle muscular dystrophy R18 (ORPHA:369840)
Gene: TRAPPC11
Phenotype: Chorea (HP:0002072)
Associated disease: Intellectual disability-hyperkinetic movement-truncal ataxia syndrome (ORPHA:369847)
Gene: TRAPPC11
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Gene: TRAPPC11
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Intellectual disability-hyperkinetic movement-truncal ataxia syndrome (ORPHA:369847)
Gene: TRAPPC11
Phenotype: Abnormality of the hypothenar eminence (HP:0010486)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: TRAPPC11
Phenotype: Decreased circulating cortisol level (HP:0008163)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: TRAPPC11
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Gene: TRAPPC11
Phenotype: Hypoglycemic seizures (HP:0002173)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: TRAPPC11
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Gene: TRAPPC11
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: LGMD2S; LGMD type 2S; TRAPPC11-related LGMD R18; Autosomal recessive limb-girdle muscular dystrophy type 2S; Limb-girdle muscular dystrophy type 2S; TRAPPC11-related limb-girdle muscular dystrophy R18 (ORPHA:369840)
Gene: TRAPPC11
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: LGMD2S; LGMD type 2S; TRAPPC11-related LGMD R18; Autosomal recessive limb-girdle muscular dystrophy type 2S; Limb-girdle muscular dystrophy type 2S; TRAPPC11-related limb-girdle muscular dystrophy R18 (ORPHA:369840)
Gene: TRAPPC11
Phenotype: Motor axonal neuropathy (HP:0007002)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: TRAPPC11
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Gene: TRAPPC11
Phenotype: Developmental regression (HP:0002376)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: TRAPPC11
Phenotype: EEG abnormality (HP:0002353)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Gene: TRAPPC11
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)