TaoMedAI/RareMedData huggingface dataset:
Gene: GALNT2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Short stature (HP:0004322)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (OMIM:618885)
Gene: GALNT2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (OMIM:618885)
Gene: GALNT2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (OMIM:618885)
Gene: GALNT2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (OMIM:618885)
Gene: GALNT2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT2
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (OMIM:618885)
Gene: GALNT2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (OMIM:618885)
Gene: GALNT2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Long face (HP:0000276)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (OMIM:618885)
Gene: GALNT2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Microcephaly (HP:0000252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (OMIM:618885)
Gene: GALNT2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Brachycephaly (HP:0000248)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (OMIM:618885)
Gene: GALNT2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Abnormal protein O-linked glycosylation (HP:0012358)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (OMIM:618885)
Gene: GALNT2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (OMIM:618885)
Gene: GALNT2
Phenotype: Low-set ears (HP:0000369)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (OMIM:618885)
Gene: GALNT2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT2
Phenotype: High forehead (HP:0000348)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (OMIM:618885)
Gene: GALNT2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (OMIM:618885)
Gene: GALNT2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Short philtrum (HP:0000322)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (OMIM:618885)
Gene: GALNT2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT2
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (OMIM:618885)
Gene: GALNT2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Astigmatism (HP:0000483)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (OMIM:618885)
Gene: GALNT2
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (OMIM:618885)
Gene: GALNT2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (OMIM:618885)
Gene: GALNT2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Short foot (HP:0001773)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (OMIM:618885)
Gene: GALNT2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (OMIM:618885)
Gene: GALNT2
Phenotype: Alternating exotropia (HP:0031717)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (OMIM:618885)
Gene: GALNT2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Sandal gap (HP:0001852)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (OMIM:618885)
Gene: GALNT2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Iron deficiency anemia (HP:0001891)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (OMIM:618885)
Gene: GALNT2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT3
Phenotype: Pulp calcification (HP:0003771)
Associated disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 (OMIM:211900)
Gene: GALNT3
Phenotype: Angioid streaks of the fundus (HP:0001102)
Associated disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 (OMIM:211900)
Gene: GALNT3
Phenotype: Calcinosis (HP:0003761)
Associated disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 (OMIM:211900)
Gene: GALNT3
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT3
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT3
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT3
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT3
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 (OMIM:211900)
Gene: GALNT3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT3
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT3
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT3
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 (OMIM:211900)
Gene: GALNT3
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 (OMIM:211900)
Gene: GALNT3
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT3
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Hyperostosis (HP:0100774)
Associated disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 (OMIM:211900)
Gene: GALNT3
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT3
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT3
Phenotype: Vascular calcification (HP:0004934)
Associated disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 (OMIM:211900)
Gene: GALNT3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 (OMIM:211900)
Gene: GALNT3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT3
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT3
Phenotype: Decreased renal tubular phosphate excretion (HP:0005572)
Associated disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 (OMIM:211900)
Gene: GALNT3
Phenotype: Increased renal tubular phosphate reabsorption (HP:0005571)
Associated disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 (OMIM:211900)
Gene: GALNT3
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT3
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT3
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT3
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Taurodontia (HP:0000679)
Associated disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 (OMIM:211900)
Gene: GALNT3
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT3
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 (OMIM:211900)
Gene: GALNT3
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT3
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT3
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 (OMIM:211900)
Gene: GALNT3
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT3
Phenotype: Hyperparathyroidism (HP:0000843)
Associated disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 (OMIM:211900)
Gene: GALNT3
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT3
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT3
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: High serum calcitriol (HP:0031415)
Associated disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 (OMIM:211900)
Gene: GALNT3
Phenotype: Conjunctival whitish salt-like deposits (HP:0007799)
Associated disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 (OMIM:211900)
Gene: GALNT3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT3
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT3
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Hyperphosphatemia (HP:0002905)
Associated disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 (OMIM:211900)
Gene: GALNT3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT3
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT3
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Subperiosteal bone formation (HP:0031485)
Associated disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 (OMIM:211900)
Gene: GALNT3
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT3
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT3
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALT
Phenotype: Encephalopathy (HP:0001298)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: GALACTOSEMIA I (OMIM:230400)
Gene: GALT
Phenotype: Sepsis (HP:0100806)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Mental deterioration (HP:0001268)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Gait disturbance (HP:0001288)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Lethargy (HP:0001254)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Seizure (HP:0001250)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Ataxia (HP:0001251)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Intellectual disability (HP:0001249)
Associated disease: GALACTOSEMIA I (OMIM:230400)
Gene: GALT
Phenotype: Dysarthria (HP:0001260)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Hepatic failure (HP:0001399)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Cirrhosis (HP:0001394)
Associated disease: GALACTOSEMIA I (OMIM:230400)
Gene: GALT
Phenotype: Galactosuria (HP:0012023)
Associated disease: GALACTOSEMIA I (OMIM:230400)
Gene: GALT
Phenotype: Hypergalactosemia (HP:0012024)
Associated disease: GALACTOSEMIA I (OMIM:230400)
Gene: GALT
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Dystonia (HP:0001332)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)