TaoMedAI/RareMedData huggingface dataset:
Gene: MEOX1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEOX1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:214300)
Gene: MEOX1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Fused cervical vertebrae (HP:0002949)
Associated disease: KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:214300)
Gene: MEOX1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: MEOX1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEOX1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEOX1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: MEOX1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:214300)
Gene: MEOX1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: MEOX1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEOX1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:214300)
Gene: MEOX1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:214300)
Gene: MEOX1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Short neck (HP:0000470)
Associated disease: KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:214300)
Gene: MEOX1
Phenotype: Short neck (HP:0000470)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: MEOX1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Limited neck range of motion (HP:0000466)
Associated disease: KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:214300)
Gene: MEOX1
Phenotype: Webbed neck (HP:0000465)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: MEOX1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEOX1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MET
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MET
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MET
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Absent proximal finger flexion creases (HP:0006077)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 11 (OMIM:620019)
Gene: MET
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MET
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: RENAL CELL CARCINOMA, PAPILLARY, 1 (OMIM:605074)
Gene: MET
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: Pediatric HCC; Childhood-onset hepatocellular carcinoma; Pediatric hepatocellular carcinoma; Childhood-onset HCC (ORPHA:33402)
Gene: MET
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MET
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MET
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 97 (OMIM:616705)
Gene: MET
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RENAL CELL CARCINOMA, PAPILLARY, 1 (OMIM:605074)
Gene: MET
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO (OMIM:607278)
Gene: MET
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MET
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 11 (OMIM:620019)
Gene: MET
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MET
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MET
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Hepatic necrosis (HP:0002605)
Associated disease: Pediatric HCC; Childhood-onset hepatocellular carcinoma; Pediatric hepatocellular carcinoma; Childhood-onset HCC (ORPHA:33402)
Gene: MET
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Epigastric pain (HP:0410019)
Associated disease: Pediatric HCC; Childhood-onset hepatocellular carcinoma; Pediatric hepatocellular carcinoma; Childhood-onset HCC (ORPHA:33402)
Gene: MET
Phenotype: Elevated circulating alpha-fetoprotein concentration (HP:0006254)
Associated disease: Pediatric HCC; Childhood-onset hepatocellular carcinoma; Pediatric hepatocellular carcinoma; Childhood-onset HCC (ORPHA:33402)
Gene: MET
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO (OMIM:607278)
Gene: MET
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: HEPATOCELLULAR CARCINOMA (OMIM:114550)
Gene: MET
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: RENAL CELL CARCINOMA, PAPILLARY, 1 (OMIM:605074)
Gene: MET
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: HEPATOCELLULAR CARCINOMA (OMIM:114550)
Gene: MET
Phenotype: Micronodular cirrhosis (HP:0001413)
Associated disease: HEPATOCELLULAR CARCINOMA (OMIM:114550)
Gene: MET
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Pediatric HCC; Childhood-onset hepatocellular carcinoma; Pediatric hepatocellular carcinoma; Childhood-onset HCC (ORPHA:33402)
Gene: MET
Phenotype: Vomiting (HP:0002013)
Associated disease: Pediatric HCC; Childhood-onset hepatocellular carcinoma; Pediatric hepatocellular carcinoma; Childhood-onset HCC (ORPHA:33402)
Gene: MET
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MET
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Congenital onset (HP:0003577)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 11 (OMIM:620019)
Gene: MET
Phenotype: Congenital onset (HP:0003577)
Associated disease: OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO (OMIM:607278)
Gene: MET
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Pediatric HCC; Childhood-onset hepatocellular carcinoma; Pediatric hepatocellular carcinoma; Childhood-onset HCC (ORPHA:33402)
Gene: MET
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MET
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MET
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MET
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MET
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MET
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MET
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MET
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MET
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MET
Phenotype: Fibular hypoplasia (HP:0003038)
Associated disease: OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO (OMIM:607278)
Gene: MET
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MET
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO (OMIM:607278)
Gene: MET
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MET
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MET
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MET
Phenotype: Pseudoarthrosis (HP:0005864)
Associated disease: OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO (OMIM:607278)
Gene: MET
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Limited pronation/supination of forearm (HP:0006394)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 11 (OMIM:620019)
Gene: MET
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MET
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MET
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MET
Phenotype: Fatigue (HP:0012378)
Associated disease: Pediatric HCC; Childhood-onset hepatocellular carcinoma; Pediatric hepatocellular carcinoma; Childhood-onset HCC (ORPHA:33402)
Gene: MET
Phenotype: Camptodactyly (HP:0012385)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 11 (OMIM:620019)
Gene: MET
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Subacute progressive viral hepatitis (HP:0006572)
Associated disease: HEPATOCELLULAR CARCINOMA (OMIM:114550)
Gene: MET
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MET
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MET
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MET
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 97 (OMIM:616705)
Gene: MET
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Portal vein thrombosis (HP:0030242)
Associated disease: Pediatric HCC; Childhood-onset hepatocellular carcinoma; Pediatric hepatocellular carcinoma; Childhood-onset HCC (ORPHA:33402)
Gene: MET
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 11 (OMIM:620019)
Gene: MET
Phenotype: Papillary renal cell carcinoma (HP:0006766)
Associated disease: RENAL CELL CARCINOMA, PAPILLARY, 1 (OMIM:605074)
Gene: MET
Phenotype: Calcaneovalgus deformity (HP:0001848)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 11 (OMIM:620019)
Gene: MET
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 11 (OMIM:620019)
Gene: MET
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MET
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 11 (OMIM:620019)
Gene: MET
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MET
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MGAT2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: CDG-IIa; CDG syndrome type IIa; MGAT2-CDG; Carbohydrate deficient glycoprotein syndrome type IIa; N-acetylglucosaminyltransferase 2 deficiency; Congenital disorder of glycosylation type 2a; CDG2A; Congenital disorder of glycosylation type IIa (ORPHA:79329)
Gene: MGAT2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Reflex asystolic syncope (HP:0500173)
Associated disease: CDG-IIa; CDG syndrome type IIa; MGAT2-CDG; Carbohydrate deficient glycoprotein syndrome type IIa; N-acetylglucosaminyltransferase 2 deficiency; Congenital disorder of glycosylation type 2a; CDG2A; Congenital disorder of glycosylation type IIa (ORPHA:79329)
Gene: MGAT2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CDG-IIa; CDG syndrome type IIa; MGAT2-CDG; Carbohydrate deficient glycoprotein syndrome type IIa; N-acetylglucosaminyltransferase 2 deficiency; Congenital disorder of glycosylation type 2a; CDG2A; Congenital disorder of glycosylation type IIa (ORPHA:79329)
Gene: MGAT2
Phenotype: Hypertonia (HP:0001276)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Seizure (HP:0001250)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Seizure (HP:0001250)
Associated disease: CDG-IIa; CDG syndrome type IIa; MGAT2-CDG; Carbohydrate deficient glycoprotein syndrome type IIa; N-acetylglucosaminyltransferase 2 deficiency; Congenital disorder of glycosylation type 2a; CDG2A; Congenital disorder of glycosylation type IIa (ORPHA:79329)
Gene: MGAT2
Phenotype: Hypotonia (HP:0001252)
Associated disease: CDG-IIa; CDG syndrome type IIa; MGAT2-CDG; Carbohydrate deficient glycoprotein syndrome type IIa; N-acetylglucosaminyltransferase 2 deficiency; Congenital disorder of glycosylation type 2a; CDG2A; Congenital disorder of glycosylation type IIa (ORPHA:79329)
Gene: MGAT2
Phenotype: Gastroparesis (HP:0002578)
Associated disease: CDG-IIa; CDG syndrome type IIa; MGAT2-CDG; Carbohydrate deficient glycoprotein syndrome type IIa; N-acetylglucosaminyltransferase 2 deficiency; Congenital disorder of glycosylation type 2a; CDG2A; Congenital disorder of glycosylation type IIa (ORPHA:79329)
Gene: MGAT2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CDG-IIa; CDG syndrome type IIa; MGAT2-CDG; Carbohydrate deficient glycoprotein syndrome type IIa; N-acetylglucosaminyltransferase 2 deficiency; Congenital disorder of glycosylation type 2a; CDG2A; Congenital disorder of glycosylation type IIa (ORPHA:79329)
Gene: MGAT2
Phenotype: Hypoplastic nipples (HP:0002557)
Associated disease: CDG-IIa; CDG syndrome type IIa; MGAT2-CDG; Carbohydrate deficient glycoprotein syndrome type IIa; N-acetylglucosaminyltransferase 2 deficiency; Congenital disorder of glycosylation type 2a; CDG2A; Congenital disorder of glycosylation type IIa (ORPHA:79329)
Gene: MGAT2
Phenotype: Abnormality of the common coagulation pathway (HP:0010990)
Associated disease: CDG-IIa; CDG syndrome type IIa; MGAT2-CDG; Carbohydrate deficient glycoprotein syndrome type IIa; N-acetylglucosaminyltransferase 2 deficiency; Congenital disorder of glycosylation type 2a; CDG2A; Congenital disorder of glycosylation type IIa (ORPHA:79329)
Gene: MGAT2
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: CDG-IIa; CDG syndrome type IIa; MGAT2-CDG; Carbohydrate deficient glycoprotein syndrome type IIa; N-acetylglucosaminyltransferase 2 deficiency; Congenital disorder of glycosylation type 2a; CDG2A; Congenital disorder of glycosylation type IIa (ORPHA:79329)
Gene: MGAT2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Midfrontal capillary hemangioma (HP:0007466)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Coxa valga (HP:0002673)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CDG-IIa; CDG syndrome type IIa; MGAT2-CDG; Carbohydrate deficient glycoprotein syndrome type IIa; N-acetylglucosaminyltransferase 2 deficiency; Congenital disorder of glycosylation type 2a; CDG2A; Congenital disorder of glycosylation type IIa (ORPHA:79329)
Gene: MGAT2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: CDG-IIa; CDG syndrome type IIa; MGAT2-CDG; Carbohydrate deficient glycoprotein syndrome type IIa; N-acetylglucosaminyltransferase 2 deficiency; Congenital disorder of glycosylation type 2a; CDG2A; Congenital disorder of glycosylation type IIa (ORPHA:79329)
Gene: MGAT2
Phenotype: Stereotypical hand wringing (HP:0012171)
Associated disease: CDG-IIa; CDG syndrome type IIa; MGAT2-CDG; Carbohydrate deficient glycoprotein syndrome type IIa; N-acetylglucosaminyltransferase 2 deficiency; Congenital disorder of glycosylation type 2a; CDG2A; Congenital disorder of glycosylation type IIa (ORPHA:79329)