TaoMedAI/RareMedData huggingface dataset:
Gene: AEBP1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: AEBP1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: AEBP1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: AEBP1
Phenotype: Foot acroosteolysis (HP:0001842)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: AEBP1
Phenotype: Sandal gap (HP:0001852)
Associated disease: Classical-like Ehlers-Danlos syndrome type 2; Classical-like EDS type 2; clEDS type 2; AEBP1-related EDS; AEBP1-related Ehlers-Danlos syndrome (ORPHA:536532)
Gene: AEBP1
Phenotype: Proptosis (HP:0000520)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: AEBP1
Phenotype: Hallux valgus (HP:0001822)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 (OMIM:618000)
Gene: AEBP1
Phenotype: Hallux valgus (HP:0001822)
Associated disease: Classical-like Ehlers-Danlos syndrome type 2; Classical-like EDS type 2; clEDS type 2; AEBP1-related EDS; AEBP1-related Ehlers-Danlos syndrome (ORPHA:536532)
Gene: AEBP1
Phenotype: Telecanthus (HP:0000506)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: AEBP1
Phenotype: Ptosis (HP:0000508)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: AEBP1
Phenotype: Camptodactyly of toe (HP:0001836)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: AEBP1
Phenotype: Glaucoma (HP:0000501)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: AEBP1
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: AEBP1
Phenotype: Exotropia (HP:0000577)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: AEBP1
Phenotype: Shallow orbits (HP:0000586)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: AEBP1
Phenotype: Keratoconus (HP:0000563)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: AEBP1
Phenotype: Keratoconus (HP:0000563)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: AEBP1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: AEBP1
Phenotype: Esotropia (HP:0000565)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: AEBP1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: AEBP1
Phenotype: Talipes (HP:0001883)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: AEBP1
Phenotype: Myopia (HP:0000545)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: AEBP1
Phenotype: Myopia (HP:0000545)
Associated disease: Classical-like Ehlers-Danlos syndrome type 2; Classical-like EDS type 2; clEDS type 2; AEBP1-related EDS; AEBP1-related Ehlers-Danlos syndrome (ORPHA:536532)
Gene: AEBP1
Phenotype: Myopia (HP:0000545)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: AEBP1
Phenotype: Myopia (HP:0000545)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: AEBP1
Phenotype: Myopia (HP:0000545)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: AFP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ALPHA-FETOPROTEIN DEFICIENCY (OMIM:615969)
Gene: AFP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ALPHA-FETOPROTEIN, HEREDITARY PERSISTENCE OF (OMIM:615970)
Gene: AFP
Phenotype: Elevated circulating alpha-fetoprotein concentration (HP:0006254)
Associated disease: ALPHA-FETOPROTEIN, HEREDITARY PERSISTENCE OF (OMIM:615970)
Gene: AFP
Phenotype: Decreased circulating alpha-fetoprotein concentration (HP:0045057)
Associated disease: ALPHA-FETOPROTEIN DEFICIENCY (OMIM:615969)
Gene: AGA
Phenotype: Reduced tissue aspartylglucosaminidase activity (HP:6000573)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: AGA
Phenotype: Microtia (HP:0008551)
Associated disease: Aspartylglucosaminuria; Aspartylglucosaminidase deficiency (ORPHA:93)
Gene: AGA
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGA
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGA
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: AGA
Phenotype: Seizure (HP:0001250)
Associated disease: Aspartylglucosaminuria; Aspartylglucosaminidase deficiency (ORPHA:93)
Gene: AGA
Phenotype: Seizure (HP:0001250)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: AGA
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Hypotonia (HP:0001252)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: AGA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Aspartylglucosaminuria; Aspartylglucosaminidase deficiency (ORPHA:93)
Gene: AGA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: AGA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Spasticity (HP:0001257)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: AGA
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGA
Phenotype: Aspartylglucosaminuria (HP:0012068)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: AGA
Phenotype: Aspartylglucosaminuria (HP:0012068)
Associated disease: Aspartylglucosaminuria; Aspartylglucosaminidase deficiency (ORPHA:93)
Gene: AGA
Phenotype: Arthritis (HP:0001369)
Associated disease: Aspartylglucosaminuria; Aspartylglucosaminidase deficiency (ORPHA:93)
Gene: AGA
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Aspartylglucosaminuria; Aspartylglucosaminidase deficiency (ORPHA:93)
Gene: AGA
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: AGA
Phenotype: Macroorchidism (HP:0000053)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: AGA
Phenotype: Macroorchidism (HP:0000053)
Associated disease: Aspartylglucosaminuria; Aspartylglucosaminidase deficiency (ORPHA:93)
Gene: AGA
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Aspartylglucosaminuria; Aspartylglucosaminidase deficiency (ORPHA:93)
Gene: AGA
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: AGA
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: Aspartylglucosaminuria; Aspartylglucosaminidase deficiency (ORPHA:93)
Gene: AGA
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGA
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGA
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: AGA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGA
Phenotype: Scoliosis (HP:0002650)
Associated disease: Aspartylglucosaminuria; Aspartylglucosaminidase deficiency (ORPHA:93)
Gene: AGA
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGA
Phenotype: Scoliosis (HP:0002650)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: AGA
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGA
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: AGA
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Aspartylglucosaminuria; Aspartylglucosaminidase deficiency (ORPHA:93)
Gene: AGA
Phenotype: Macroglossia (HP:0000158)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: AGA
Phenotype: Macroglossia (HP:0000158)
Associated disease: Aspartylglucosaminuria; Aspartylglucosaminidase deficiency (ORPHA:93)
Gene: AGA
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Wide mouth (HP:0000154)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: AGA
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: AGA
Phenotype: Hypoplastic frontal sinuses (HP:0002738)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: AGA
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Aspartylglucosaminuria; Aspartylglucosaminidase deficiency (ORPHA:93)
Gene: AGA
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: AGA
Phenotype: Malabsorption (HP:0002024)
Associated disease: Aspartylglucosaminuria; Aspartylglucosaminidase deficiency (ORPHA:93)
Gene: AGA
Phenotype: Diarrhea (HP:0002014)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: AGA
Phenotype: Spondylolysis (HP:0003304)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: AGA
Phenotype: Spondylolisthesis (HP:0003302)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: AGA
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: AGA
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGA
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Abnormal vertebral morphology (HP:0003468)
Associated disease: Aspartylglucosaminuria; Aspartylglucosaminidase deficiency (ORPHA:93)
Gene: AGA
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Aspartylglucosaminuria; Aspartylglucosaminidase deficiency (ORPHA:93)
Gene: AGA
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Aspartylglucosaminuria; Aspartylglucosaminidase deficiency (ORPHA:93)
Gene: AGA
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: AGA
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Aspartylglucosaminuria; Aspartylglucosaminidase deficiency (ORPHA:93)
Gene: AGA
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: AGA
Phenotype: Hernia (HP:0100790)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: AGA
Phenotype: Large face (HP:0100729)
Associated disease: Aspartylglucosaminuria; Aspartylglucosaminidase deficiency (ORPHA:93)
Gene: AGA
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Acne (HP:0001061)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: AGA
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Aspartylglucosaminuria; Aspartylglucosaminidase deficiency (ORPHA:93)
Gene: AGA
Phenotype: Developmental regression (HP:0002376)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: AGA
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGA
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Aspartylglucosaminuria; Aspartylglucosaminidase deficiency (ORPHA:93)
Gene: AGA
Phenotype: Angiokeratoma corporis diffusum (HP:0001071)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: AGA
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Anterior beaking of lumbar vertebrae (HP:0008430)
Associated disease: Aspartylglucosaminuria; Aspartylglucosaminidase deficiency (ORPHA:93)
Gene: AGA
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGA
Phenotype: Decreased prothrombin time (HP:0032198)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: AGA
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGA
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGA
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGA
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGA
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Vacuolated lymphocytes (HP:0001922)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: AGA
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: AGA
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGA
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGA
Phenotype: Carious teeth (HP:0000670)
Associated disease: Aspartylglucosaminuria; Aspartylglucosaminidase deficiency (ORPHA:93)
Gene: AGA
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Aspartylglucosaminuria; Aspartylglucosaminidase deficiency (ORPHA:93)
Gene: AGA
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Short stature (HP:0004322)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: AGA
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGA
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGA
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Abnormality of amino acid metabolism (HP:0004337)
Associated disease: Aspartylglucosaminuria; Aspartylglucosaminidase deficiency (ORPHA:93)
Gene: AGA
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Aspartylglucosaminuria; Aspartylglucosaminidase deficiency (ORPHA:93)
Gene: AGA
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Aspartylglucosaminuria; Aspartylglucosaminidase deficiency (ORPHA:93)
Gene: AGA
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: AGA
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Aspartylglucosaminuria; Aspartylglucosaminidase deficiency (ORPHA:93)
Gene: AGA
Phenotype: Childhood onset (HP:0011463)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: AGA
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Abnormal cortical bone morphology (HP:0003103)
Associated disease: Aspartylglucosaminuria; Aspartylglucosaminidase deficiency (ORPHA:93)
Gene: AGA
Phenotype: Short nose (HP:0003196)
Associated disease: Aspartylglucosaminuria; Aspartylglucosaminidase deficiency (ORPHA:93)
Gene: AGA
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Platyspondyly (HP:0000926)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: AGA
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGA
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGA
Phenotype: Abnormal morphology of ulna (HP:0040071)
Associated disease: Aspartylglucosaminuria; Aspartylglucosaminidase deficiency (ORPHA:93)
Gene: AGA
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Beaking of vertebral bodies (HP:0004568)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: AGA
Phenotype: Beaking of vertebral bodies (HP:0004568)
Associated disease: Aspartylglucosaminuria; Aspartylglucosaminidase deficiency (ORPHA:93)
Gene: AGA
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGA
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Dysostosis multiplex (HP:0000943)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: AGA
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Broad face (HP:0000283)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: AGA
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Aspartylglucosaminuria; Aspartylglucosaminidase deficiency (ORPHA:93)
Gene: AGA
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Coarse facial features (HP:0000280)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: AGA
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Kyphosis (HP:0002808)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: AGA
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Microcephaly (HP:0000252)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: AGA
Phenotype: Brachycephaly (HP:0000248)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: AGA
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: Aspartylglucosaminuria; Aspartylglucosaminidase deficiency (ORPHA:93)
Gene: AGA
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGA
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Aspartylglucosaminuria; Aspartylglucosaminidase deficiency (ORPHA:93)
Gene: AGA
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGA
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGA
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Aspartylglucosaminuria; Aspartylglucosaminidase deficiency (ORPHA:93)
Gene: AGA
Phenotype: Hoarse voice (HP:0001609)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: AGA
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGA
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGA
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Aspartylglucosaminuria; Aspartylglucosaminidase deficiency (ORPHA:93)
Gene: AGA
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: AGA
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGA
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Aspartylglucosaminuria; Aspartylglucosaminidase deficiency (ORPHA:93)
Gene: AGA
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: AGA
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: Aspartylglucosaminuria; Aspartylglucosaminidase deficiency (ORPHA:93)
Gene: AGA
Phenotype: Anteverted nares (HP:0000463)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: AGA
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Pes planus (HP:0001763)
Associated disease: Aspartylglucosaminuria; Aspartylglucosaminidase deficiency (ORPHA:93)
Gene: AGA
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Aspartylglucosaminuria; Aspartylglucosaminidase deficiency (ORPHA:93)
Gene: AGA
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Aspartylglucosaminuria; Aspartylglucosaminidase deficiency (ORPHA:93)
Gene: AGA
Phenotype: Vascular skin abnormality (HP:0011276)
Associated disease: Aspartylglucosaminuria; Aspartylglucosaminidase deficiency (ORPHA:93)
Gene: AGA
Phenotype: Cataract (HP:0000518)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: AGA
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)