TaoMedAI/RareMedData huggingface dataset:
Gene: SLC25A15
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME (OMIM:238970)
Gene: SLC25A15
Phenotype: Scanning speech (HP:0002168)
Associated disease: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME (OMIM:238970)
Gene: SLC25A15
Phenotype: Clonus (HP:0002169)
Associated disease: ORNT1 deficiency; Ornithine carrier deficiency; HHH syndrome; Ornithine translocase deficiency; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; Triple H syndrome (ORPHA:415)
Gene: SLC25A15
Phenotype: Clonus (HP:0002169)
Associated disease: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME (OMIM:238970)
Gene: SLC25A15
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME (OMIM:238970)
Gene: SLC25A15
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: ORNT1 deficiency; Ornithine carrier deficiency; HHH syndrome; Ornithine translocase deficiency; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; Triple H syndrome (ORPHA:415)
Gene: SLC25A15
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME (OMIM:238970)
Gene: SLC25A15
Phenotype: Acute hepatitis (HP:0200119)
Associated disease: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME (OMIM:238970)
Gene: SLC25A15
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: ORNT1 deficiency; Ornithine carrier deficiency; HHH syndrome; Ornithine translocase deficiency; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; Triple H syndrome (ORPHA:415)
Gene: SLC25A15
Phenotype: Abnormal circulating citrulline concentration (HP:0011965)
Associated disease: ORNT1 deficiency; Ornithine carrier deficiency; HHH syndrome; Ornithine translocase deficiency; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; Triple H syndrome (ORPHA:415)
Gene: SLC25A15
Phenotype: Multifocal cerebral white matter abnormalities (HP:0007052)
Associated disease: ORNT1 deficiency; Ornithine carrier deficiency; HHH syndrome; Ornithine translocase deficiency; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; Triple H syndrome (ORPHA:415)
Gene: SLC25A15
Phenotype: Poor coordination (HP:0002370)
Associated disease: ORNT1 deficiency; Ornithine carrier deficiency; HHH syndrome; Ornithine translocase deficiency; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; Triple H syndrome (ORPHA:415)
Gene: SLC25A15
Phenotype: Poor coordination (HP:0002370)
Associated disease: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME (OMIM:238970)
Gene: SLC25A15
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME (OMIM:238970)
Gene: SLC25A15
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME (OMIM:238970)
Gene: SLC25A15
Phenotype: Acute encephalopathy (HP:0006846)
Associated disease: ORNT1 deficiency; Ornithine carrier deficiency; HHH syndrome; Ornithine translocase deficiency; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; Triple H syndrome (ORPHA:415)
Gene: SLC25A15
Phenotype: Acute encephalopathy (HP:0006846)
Associated disease: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME (OMIM:238970)
Gene: SLC25A15
Phenotype: Respiratory alkalosis (HP:0001950)
Associated disease: ORNT1 deficiency; Ornithine carrier deficiency; HHH syndrome; Ornithine translocase deficiency; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; Triple H syndrome (ORPHA:415)
Gene: SLC25A15
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: ORNT1 deficiency; Ornithine carrier deficiency; HHH syndrome; Ornithine translocase deficiency; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; Triple H syndrome (ORPHA:415)
Gene: SLC25A15
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME (OMIM:238970)
Gene: SLC25A15
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME (OMIM:238970)
Gene: SLC25A15
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: ORNT1 deficiency; Ornithine carrier deficiency; HHH syndrome; Ornithine translocase deficiency; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; Triple H syndrome (ORPHA:415)
Gene: SLC25A15
Phenotype: Chorioretinal hypopigmentation (HP:0040030)
Associated disease: ORNT1 deficiency; Ornithine carrier deficiency; HHH syndrome; Ornithine translocase deficiency; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; Triple H syndrome (ORPHA:415)
Gene: SLC25A15
Phenotype: Oroticaciduria (HP:0003218)
Associated disease: ORNT1 deficiency; Ornithine carrier deficiency; HHH syndrome; Ornithine translocase deficiency; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; Triple H syndrome (ORPHA:415)
Gene: SLC25A15
Phenotype: Abnormality of the coagulation cascade (HP:0003256)
Associated disease: ORNT1 deficiency; Ornithine carrier deficiency; HHH syndrome; Ornithine translocase deficiency; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; Triple H syndrome (ORPHA:415)
Gene: SLC25A15
Phenotype: Failure to thrive (HP:0001508)
Associated disease: ORNT1 deficiency; Ornithine carrier deficiency; HHH syndrome; Ornithine translocase deficiency; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; Triple H syndrome (ORPHA:415)
Gene: SLC25A15
Phenotype: Failure to thrive (HP:0001508)
Associated disease: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME (OMIM:238970)
Gene: SLC25A15
Phenotype: Speech apraxia (HP:0011098)
Associated disease: ORNT1 deficiency; Ornithine carrier deficiency; HHH syndrome; Ornithine translocase deficiency; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; Triple H syndrome (ORPHA:415)
Gene: SLC25A15
Phenotype: Hypopigmentation of the fundus (HP:0007894)
Associated disease: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME (OMIM:238970)
Gene: SLC25A15
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: ORNT1 deficiency; Ornithine carrier deficiency; HHH syndrome; Ornithine translocase deficiency; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; Triple H syndrome (ORPHA:415)
Gene: SLC25A15
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: ORNT1 deficiency; Ornithine carrier deficiency; HHH syndrome; Ornithine translocase deficiency; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; Triple H syndrome (ORPHA:415)
Gene: SLC25A15
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME (OMIM:238970)
Gene: TSHZ1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AURAL ATRESIA, CONGENITAL (OMIM:607842)
Gene: TSHZ1
Phenotype: Hyposmia (HP:0004409)
Associated disease: AURAL ATRESIA, CONGENITAL (OMIM:607842)
Gene: TSHZ1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: AURAL ATRESIA, CONGENITAL (OMIM:607842)
Gene: TSHZ1
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: AURAL ATRESIA, CONGENITAL (OMIM:607842)
Gene: ALG3
Phenotype: Adducted thumb (HP:0001181)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id (OMIM:601110)
Gene: ALG3
Phenotype: Severely reduced visual acuity (HP:0001141)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id (OMIM:601110)
Gene: ALG3
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG3
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG3
Phenotype: Long fingers (HP:0100807)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id (OMIM:601110)
Gene: ALG3
Phenotype: Hypertonia (HP:0001276)
Associated disease: Congenital disorder of glycosylation type Id; Congenital disorder of glycosylation type 1d; CDG1D; CDG syndrome type Id; Carbohydrate deficient glycoprotein syndrome type Id; ALG3-CDG; Mannosyltransferase 6 deficiency; CDG-Id (ORPHA:79321)
Gene: ALG3
Phenotype: Hypertonia (HP:0001276)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id (OMIM:601110)
Gene: ALG3
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id (OMIM:601110)
Gene: ALG3
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: Congenital disorder of glycosylation type Id; Congenital disorder of glycosylation type 1d; CDG1D; CDG syndrome type Id; Carbohydrate deficient glycoprotein syndrome type Id; ALG3-CDG; Mannosyltransferase 6 deficiency; CDG-Id (ORPHA:79321)
Gene: ALG3
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id (OMIM:601110)
Gene: ALG3
Phenotype: Seizure (HP:0001250)
Associated disease: Congenital disorder of glycosylation type Id; Congenital disorder of glycosylation type 1d; CDG1D; CDG syndrome type Id; Carbohydrate deficient glycoprotein syndrome type Id; ALG3-CDG; Mannosyltransferase 6 deficiency; CDG-Id (ORPHA:79321)
Gene: ALG3
Phenotype: Seizure (HP:0001250)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id (OMIM:601110)
Gene: ALG3
Phenotype: Hypotonia (HP:0001252)
Associated disease: Congenital disorder of glycosylation type Id; Congenital disorder of glycosylation type 1d; CDG1D; CDG syndrome type Id; Carbohydrate deficient glycoprotein syndrome type Id; ALG3-CDG; Mannosyltransferase 6 deficiency; CDG-Id (ORPHA:79321)
Gene: ALG3
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Congenital disorder of glycosylation type Id; Congenital disorder of glycosylation type 1d; CDG1D; CDG syndrome type Id; Carbohydrate deficient glycoprotein syndrome type Id; ALG3-CDG; Mannosyltransferase 6 deficiency; CDG-Id (ORPHA:79321)
Gene: ALG3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id (OMIM:601110)
Gene: ALG3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id (OMIM:601110)
Gene: ALG3
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG3
Phenotype: Flexion contracture (HP:0001371)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id (OMIM:601110)
Gene: ALG3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id (OMIM:601110)
Gene: ALG3
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG3
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Dystonia (HP:0001332)
Associated disease: Congenital disorder of glycosylation type Id; Congenital disorder of glycosylation type 1d; CDG1D; CDG syndrome type Id; Carbohydrate deficient glycoprotein syndrome type Id; ALG3-CDG; Mannosyltransferase 6 deficiency; CDG-Id (ORPHA:79321)
Gene: ALG3
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG3
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id (OMIM:601110)
Gene: ALG3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG3
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Congenital disorder of glycosylation type Id; Congenital disorder of glycosylation type 1d; CDG1D; CDG syndrome type Id; Carbohydrate deficient glycoprotein syndrome type Id; ALG3-CDG; Mannosyltransferase 6 deficiency; CDG-Id (ORPHA:79321)
Gene: ALG3
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG3
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG3
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id (OMIM:601110)
Gene: ALG3
Phenotype: Subcortical cerebral atrophy (HP:0012157)
Associated disease: Congenital disorder of glycosylation type Id; Congenital disorder of glycosylation type 1d; CDG1D; CDG syndrome type Id; Carbohydrate deficient glycoprotein syndrome type Id; ALG3-CDG; Mannosyltransferase 6 deficiency; CDG-Id (ORPHA:79321)
Gene: ALG3
Phenotype: Macroglossia (HP:0000158)
Associated disease: Congenital disorder of glycosylation type Id; Congenital disorder of glycosylation type 1d; CDG1D; CDG syndrome type Id; Carbohydrate deficient glycoprotein syndrome type Id; ALG3-CDG; Mannosyltransferase 6 deficiency; CDG-Id (ORPHA:79321)
Gene: ALG3
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Abnormal uvula morphology (HP:0000172)
Associated disease: Congenital disorder of glycosylation type Id; Congenital disorder of glycosylation type 1d; CDG1D; CDG syndrome type Id; Carbohydrate deficient glycoprotein syndrome type Id; ALG3-CDG; Mannosyltransferase 6 deficiency; CDG-Id (ORPHA:79321)
Gene: ALG3
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id (OMIM:601110)
Gene: ALG3
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: Congenital disorder of glycosylation type Id; Congenital disorder of glycosylation type 1d; CDG1D; CDG syndrome type Id; Carbohydrate deficient glycoprotein syndrome type Id; ALG3-CDG; Mannosyltransferase 6 deficiency; CDG-Id (ORPHA:79321)
Gene: ALG3
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Congenital disorder of glycosylation type Id; Congenital disorder of glycosylation type 1d; CDG1D; CDG syndrome type Id; Carbohydrate deficient glycoprotein syndrome type Id; ALG3-CDG; Mannosyltransferase 6 deficiency; CDG-Id (ORPHA:79321)
Gene: ALG3
Phenotype: Decreased liver function (HP:0001410)
Associated disease: Congenital disorder of glycosylation type Id; Congenital disorder of glycosylation type 1d; CDG1D; CDG syndrome type Id; Carbohydrate deficient glycoprotein syndrome type Id; ALG3-CDG; Mannosyltransferase 6 deficiency; CDG-Id (ORPHA:79321)
Gene: ALG3
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Congenital disorder of glycosylation type Id; Congenital disorder of glycosylation type 1d; CDG1D; CDG syndrome type Id; Carbohydrate deficient glycoprotein syndrome type Id; ALG3-CDG; Mannosyltransferase 6 deficiency; CDG-Id (ORPHA:79321)
Gene: ALG3
Phenotype: Diarrhea (HP:0002014)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id (OMIM:601110)
Gene: ALG3
Phenotype: Vomiting (HP:0002013)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id (OMIM:601110)
Gene: ALG3
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: Congenital disorder of glycosylation type Id; Congenital disorder of glycosylation type 1d; CDG1D; CDG syndrome type Id; Carbohydrate deficient glycoprotein syndrome type Id; ALG3-CDG; Mannosyltransferase 6 deficiency; CDG-Id (ORPHA:79321)
Gene: ALG3
Phenotype: Abnormality of the respiratory system (HP:0002086)
Associated disease: Congenital disorder of glycosylation type Id; Congenital disorder of glycosylation type 1d; CDG1D; CDG syndrome type Id; Carbohydrate deficient glycoprotein syndrome type Id; ALG3-CDG; Mannosyltransferase 6 deficiency; CDG-Id (ORPHA:79321)
Gene: ALG3
Phenotype: Abnormal cerebral morphology (HP:0002060)
Associated disease: Congenital disorder of glycosylation type Id; Congenital disorder of glycosylation type 1d; CDG1D; CDG syndrome type Id; Carbohydrate deficient glycoprotein syndrome type Id; ALG3-CDG; Mannosyltransferase 6 deficiency; CDG-Id (ORPHA:79321)
Gene: ALG3
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Congenital disorder of glycosylation type Id; Congenital disorder of glycosylation type 1d; CDG1D; CDG syndrome type Id; Carbohydrate deficient glycoprotein syndrome type Id; ALG3-CDG; Mannosyltransferase 6 deficiency; CDG-Id (ORPHA:79321)
Gene: ALG3
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id (OMIM:601110)
Gene: ALG3
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG3
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id (OMIM:601110)
Gene: ALG3
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id (OMIM:601110)
Gene: ALG3
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id (OMIM:601110)
Gene: ALG3
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Congenital disorder of glycosylation type Id; Congenital disorder of glycosylation type 1d; CDG1D; CDG syndrome type Id; Carbohydrate deficient glycoprotein syndrome type Id; ALG3-CDG; Mannosyltransferase 6 deficiency; CDG-Id (ORPHA:79321)
Gene: ALG3
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: Congenital disorder of glycosylation type Id; Congenital disorder of glycosylation type 1d; CDG1D; CDG syndrome type Id; Carbohydrate deficient glycoprotein syndrome type Id; ALG3-CDG; Mannosyltransferase 6 deficiency; CDG-Id (ORPHA:79321)
Gene: ALG3
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG3
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG3
Phenotype: Type I transferrin isoform profile (HP:0003642)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id (OMIM:601110)
Gene: ALG3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG3
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG3
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Nystagmus (HP:0000639)
Associated disease: Congenital disorder of glycosylation type Id; Congenital disorder of glycosylation type 1d; CDG1D; CDG syndrome type Id; Carbohydrate deficient glycoprotein syndrome type Id; ALG3-CDG; Mannosyltransferase 6 deficiency; CDG-Id (ORPHA:79321)
Gene: ALG3
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG3
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG3
Phenotype: Optic atrophy (HP:0000648)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id (OMIM:601110)
Gene: ALG3
Phenotype: Iris coloboma (HP:0000612)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id (OMIM:601110)
Gene: ALG3
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG3
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Decreased light- and dark-adapted electroretinogram amplitude (HP:0000654)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id (OMIM:601110)
Gene: ALG3
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG3
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Congenital disorder of glycosylation type Id; Congenital disorder of glycosylation type 1d; CDG1D; CDG syndrome type Id; Carbohydrate deficient glycoprotein syndrome type Id; ALG3-CDG; Mannosyltransferase 6 deficiency; CDG-Id (ORPHA:79321)
Gene: ALG3
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG3
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG3
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Villous atrophy (HP:0011473)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id (OMIM:601110)
Gene: ALG3
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: Congenital disorder of glycosylation type Id; Congenital disorder of glycosylation type 1d; CDG1D; CDG syndrome type Id; Carbohydrate deficient glycoprotein syndrome type Id; ALG3-CDG; Mannosyltransferase 6 deficiency; CDG-Id (ORPHA:79321)
Gene: ALG3
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Cerebral white matter atrophy (HP:0012762)
Associated disease: Congenital disorder of glycosylation type Id; Congenital disorder of glycosylation type 1d; CDG1D; CDG syndrome type Id; Carbohydrate deficient glycoprotein syndrome type Id; ALG3-CDG; Mannosyltransferase 6 deficiency; CDG-Id (ORPHA:79321)
Gene: ALG3
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)