TaoMedAI/RareMedData huggingface dataset:
Gene: MGAT2
Phenotype: Stereotypical hand wringing (HP:0012171)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Open mouth (HP:0000194)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Open mouth (HP:0000194)
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: Wide mouth (HP:0000154)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Gastroesophageal reflux (HP:0002020)
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: Impaired lymphocyte transformation with phytohemagglutinin (HP:0003347)
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: Respiratory distress (HP:0002098)
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: Thoracolumbar kyphoscoliosis (HP:0003423)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Reduced factor IX activity (HP:0011858)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Infantile onset (HP:0003593)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Impaired platelet aggregation (HP:0003540)
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: Recurrent upper and lower respiratory tract infections (HP:0200117)
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: Feeding difficulties (HP:0011968)
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: Reduced factor XII activity (HP:0004841)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Hirsutism (HP:0001007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Hirsutism (HP:0001007)
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: Unsteady gait (HP:0002317)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Reduced level of N-acetylglucosaminyltransferase II (HP:0003655)
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: Peripheral neuropathy (HP:0009830)
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: Protruding tongue (HP:0010808)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Low hanging columella (HP:0009765)
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: Low hanging columella (HP:0009765)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Abnormal scalp morphology (HP:0001965)
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: Reduced antithrombin III activity (HP:0001976)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Reduced factor XI activity (HP:0001929)
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: Reduced factor XI activity (HP:0001929)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Diastema (HP:0000699)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Dental crowding (HP:0000678)
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: Abnormal facial shape (HP:0001999)
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: Short stature (HP:0004322)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Decreased circulating IgG concentration (HP:0004315)
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: Decreased circulating immunoglobulin concentration (HP:0004313)
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: Pectus excavatum (HP:0000767)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Pectus excavatum (HP:0000767)
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: Motor stereotypy (HP:0000733)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Self-mutilation (HP:0000742)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
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: Slender long bone (HP:0003100)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Inverted nipples (HP:0003186)
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 endocrine system (HP:0000818)
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: Osteopenia (HP:0000938)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Osteopenia (HP:0000938)
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: Sparse hair (HP:0008070)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Arrhythmia (HP:0011675)
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: Retrognathia (HP:0000278)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Dolichocephaly (HP:0000268)
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: Kyphosis (HP:0002808)
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: Macrodontia (HP:0001572)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Progressive microcephaly (HP:0000253)
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: Microcephaly (HP:0000252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Brachycephaly (HP:0000248)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Abnormal rib cage morphology (HP:0001547)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Failure to thrive (HP:0001508)
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: Decreased mitogen-induced T-cell proliferation (HP:0031381)
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: Prominent antihelix (HP:0000395)
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: Abnormal earlobe morphology (HP:0000363)
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: Posteriorly rotated ears (HP:0000358)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Posteriorly rotated ears (HP:0000358)
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: Low-set ears (HP:0000369)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Long philtrum (HP:0000343)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Type II transferrin isoform profile (HP:0012301)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Hypertelorism (HP:0000316)
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: Patent ductus arteriosus (HP:0001643)
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: Ventricular septal defect (HP:0001629)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Ventricular septal defect (HP:0001629)
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: Abnormal heart morphology (HP:0001627)
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: Mandibular prognathia (HP:0000303)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Combined immunodeficiency (HP:0005387)
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: Sensorineural hearing impairment (HP:0000407)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Macrotia (HP:0000400)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Infantile spasms (HP:0012469)
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: Downslanted palpebral fissures (HP:0000494)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Downslanted palpebral fissures (HP:0000494)
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: Brain atrophy (HP:0012444)
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: Hydrops fetalis (HP:0001789)
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: Short neck (HP:0000470)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Pes planus (HP:0001763)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Convex nasal ridge (HP:0000444)
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: Prominent nasal bridge (HP:0000426)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Long eyelashes (HP:0000527)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: MGAT2
Phenotype: Long eyelashes (HP:0000527)
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: Abnormal bleeding (HP:0001892)
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: Thick eyebrow (HP:0000574)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Gene: KITLG
Phenotype: Heterochromia iridis (HP:0001100)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: KITLG
Phenotype: Heterochromia iridis (HP:0001100)
Associated disease: WAARDENBURG SYNDROME, TYPE 2F (OMIM:619947)
Gene: KITLG
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: KITLG
Phenotype: Progressive hyperpigmentation (HP:0007505)
Associated disease: HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE (OMIM:145250)
Gene: KITLG
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: WAARDENBURG SYNDROME, TYPE 2F (OMIM:619947)
Gene: KITLG
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE (OMIM:145250)
Gene: KITLG
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 69 (OMIM:616697)
Gene: KITLG
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE (OMIM:145250)
Gene: KITLG
Phenotype: Congenital onset (HP:0003577)
Associated disease: WAARDENBURG SYNDROME, TYPE 2F (OMIM:619947)
Gene: KITLG
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: KITLG
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: KITLG
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: WAARDENBURG SYNDROME, TYPE 2F (OMIM:619947)
Gene: KITLG
Phenotype: White forelock (HP:0002211)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: KITLG
Phenotype: White forelock (HP:0002211)
Associated disease: WAARDENBURG SYNDROME, TYPE 2F (OMIM:619947)
Gene: KITLG
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE (OMIM:145250)
Gene: KITLG
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: KITLG
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE (OMIM:145250)
Gene: KITLG
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: WAARDENBURG SYNDROME, TYPE 2F (OMIM:619947)
Gene: KITLG
Phenotype: Vitiligo (HP:0001045)
Associated disease: HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE (OMIM:145250)
Gene: KITLG
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: WAARDENBURG SYNDROME, TYPE 2F (OMIM:619947)
Gene: KITLG
Phenotype: Multiple lentigines (HP:0001003)
Associated disease: HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE (OMIM:145250)