TaoMedAI/RareMedData huggingface dataset:
Gene: SUGCT
Phenotype: Lethargy (HP:0001254)
Associated disease: Glutaric aciduria type 3; Glutaryl-CoA oxidase deficiency; Glutaric acidemia type 3 (ORPHA:35706)
Gene: SUGCT
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Glutaric aciduria type 3; Glutaryl-CoA oxidase deficiency; Glutaric acidemia type 3 (ORPHA:35706)
Gene: SUGCT
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: Glutaric aciduria type 3; Glutaryl-CoA oxidase deficiency; Glutaric acidemia type 3 (ORPHA:35706)
Gene: SUGCT
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Glutaric aciduria type 3; Glutaryl-CoA oxidase deficiency; Glutaric acidemia type 3 (ORPHA:35706)
Gene: SUGCT
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Glutaric aciduria type 3; Glutaryl-CoA oxidase deficiency; Glutaric acidemia type 3 (ORPHA:35706)
Gene: SUGCT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLUTARIC ACIDURIA III (OMIM:231690)
Gene: SUGCT
Phenotype: Diarrhea (HP:0002014)
Associated disease: GLUTARIC ACIDURIA III (OMIM:231690)
Gene: SUGCT
Phenotype: Vomiting (HP:0002013)
Associated disease: GLUTARIC ACIDURIA III (OMIM:231690)
Gene: SUGCT
Phenotype: Impulsivity (HP:0100710)
Associated disease: Glutaric aciduria type 3; Glutaryl-CoA oxidase deficiency; Glutaric acidemia type 3 (ORPHA:35706)
Gene: SUGCT
Phenotype: Elevated circulating glutaric acid concentration (HP:0003530)
Associated disease: Glutaric aciduria type 3; Glutaryl-CoA oxidase deficiency; Glutaric acidemia type 3 (ORPHA:35706)
Gene: SUGCT
Phenotype: Reduced peroxisomal glutaryl-CoA oxidase activity (HP:0034688)
Associated disease: GLUTARIC ACIDURIA III (OMIM:231690)
Gene: SUGCT
Phenotype: Ketoacidosis (HP:0001993)
Associated disease: Glutaric aciduria type 3; Glutaryl-CoA oxidase deficiency; Glutaric acidemia type 3 (ORPHA:35706)
Gene: SUGCT
Phenotype: Glutaric aciduria (HP:0003150)
Associated disease: Glutaric aciduria type 3; Glutaryl-CoA oxidase deficiency; Glutaric acidemia type 3 (ORPHA:35706)
Gene: SUGCT
Phenotype: Glutaric aciduria (HP:0003150)
Associated disease: GLUTARIC ACIDURIA III (OMIM:231690)
Gene: SUGCT
Phenotype: Goiter (HP:0000853)
Associated disease: GLUTARIC ACIDURIA III (OMIM:231690)
Gene: SUGCT
Phenotype: Hyperthyroidism (HP:0000836)
Associated disease: GLUTARIC ACIDURIA III (OMIM:231690)
Gene: SUGCT
Phenotype: Hypertension (HP:0000822)
Associated disease: GLUTARIC ACIDURIA III (OMIM:231690)
Gene: SUGCT
Phenotype: Sacral dimple (HP:0000960)
Associated disease: Glutaric aciduria type 3; Glutaryl-CoA oxidase deficiency; Glutaric acidemia type 3 (ORPHA:35706)
Gene: SUGCT
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Glutaric aciduria type 3; Glutaryl-CoA oxidase deficiency; Glutaric acidemia type 3 (ORPHA:35706)
Gene: SUGCT
Phenotype: Failure to thrive (HP:0001508)
Associated disease: GLUTARIC ACIDURIA III (OMIM:231690)
Gene: SUGCT
Phenotype: Ketonuria (HP:0002919)
Associated disease: Glutaric aciduria type 3; Glutaryl-CoA oxidase deficiency; Glutaric acidemia type 3 (ORPHA:35706)
Gene: SUGCT
Phenotype: Abnormal circulating enzyme concentration (HP:0011021)
Associated disease: Glutaric aciduria type 3; Glutaryl-CoA oxidase deficiency; Glutaric acidemia type 3 (ORPHA:35706)
Gene: MYH14
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS (OMIM:614369)
Gene: MYH14
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome; Peripheral neuropathy-myopathy-hoarseness-deafness syndrome (ORPHA:397744)
Gene: MYH14
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome; Peripheral neuropathy-myopathy-hoarseness-deafness syndrome (ORPHA:397744)
Gene: MYH14
Phenotype: Areflexia (HP:0001284)
Associated disease: Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome; Peripheral neuropathy-myopathy-hoarseness-deafness syndrome (ORPHA:397744)
Gene: MYH14
Phenotype: Seizure (HP:0001250)
Associated disease: Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome; Peripheral neuropathy-myopathy-hoarseness-deafness syndrome (ORPHA:397744)
Gene: MYH14
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome; Peripheral neuropathy-myopathy-hoarseness-deafness syndrome (ORPHA:397744)
Gene: MYH14
Phenotype: Fiber type grouping (HP:0033685)
Associated disease: PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS (OMIM:614369)
Gene: MYH14
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome; Peripheral neuropathy-myopathy-hoarseness-deafness syndrome (ORPHA:397744)
Gene: MYH14
Phenotype: Arthritis (HP:0001369)
Associated disease: Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome; Peripheral neuropathy-myopathy-hoarseness-deafness syndrome (ORPHA:397744)
Gene: MYH14
Phenotype: Tremor (HP:0001337)
Associated disease: Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome; Peripheral neuropathy-myopathy-hoarseness-deafness syndrome (ORPHA:397744)
Gene: MYH14
Phenotype: Tremor (HP:0001337)
Associated disease: PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS (OMIM:614369)
Gene: MYH14
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 4A (OMIM:600652)
Gene: MYH14
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS (OMIM:614369)
Gene: MYH14
Phenotype: Dysphagia (HP:0002015)
Associated disease: Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome; Peripheral neuropathy-myopathy-hoarseness-deafness syndrome (ORPHA:397744)
Gene: MYH14
Phenotype: Decreased patellar reflex (HP:0011808)
Associated disease: PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS (OMIM:614369)
Gene: MYH14
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome; Peripheral neuropathy-myopathy-hoarseness-deafness syndrome (ORPHA:397744)
Gene: MYH14
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS (OMIM:614369)
Gene: MYH14
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome; Peripheral neuropathy-myopathy-hoarseness-deafness syndrome (ORPHA:397744)
Gene: MYH14
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome; Peripheral neuropathy-myopathy-hoarseness-deafness syndrome (ORPHA:397744)
Gene: MYH14
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS (OMIM:614369)
Gene: MYH14
Phenotype: Progressive (HP:0003676)
Associated disease: PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS (OMIM:614369)
Gene: MYH14
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome; Peripheral neuropathy-myopathy-hoarseness-deafness syndrome (ORPHA:397744)
Gene: MYH14
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS (OMIM:614369)
Gene: MYH14
Phenotype: Juvenile onset (HP:0003621)
Associated disease: PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS (OMIM:614369)
Gene: MYH14
Phenotype: Absent patellar reflexes (HP:0006844)
Associated disease: PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS (OMIM:614369)
Gene: MYH14
Phenotype: Progressive distal muscle weakness (HP:0009063)
Associated disease: Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome; Peripheral neuropathy-myopathy-hoarseness-deafness syndrome (ORPHA:397744)
Gene: MYH14
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome; Peripheral neuropathy-myopathy-hoarseness-deafness syndrome (ORPHA:397744)
Gene: MYH14
Phenotype: Mitochondrial swelling (HP:0030774)
Associated disease: Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome; Peripheral neuropathy-myopathy-hoarseness-deafness syndrome (ORPHA:397744)
Gene: MYH14
Phenotype: Myopathy (HP:0003198)
Associated disease: Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome; Peripheral neuropathy-myopathy-hoarseness-deafness syndrome (ORPHA:397744)
Gene: MYH14
Phenotype: Structural foot deformity (HP:0010219)
Associated disease: Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome; Peripheral neuropathy-myopathy-hoarseness-deafness syndrome (ORPHA:397744)
Gene: MYH14
Phenotype: Hoarse voice (HP:0001609)
Associated disease: Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome; Peripheral neuropathy-myopathy-hoarseness-deafness syndrome (ORPHA:397744)
Gene: MYH14
Phenotype: Hoarse voice (HP:0001609)
Associated disease: PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS (OMIM:614369)
Gene: MYH14
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS (OMIM:614369)
Gene: MYH14
Phenotype: Vocal cord paralysis (HP:0001605)
Associated disease: Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome; Peripheral neuropathy-myopathy-hoarseness-deafness syndrome (ORPHA:397744)
Gene: MYH14
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS (OMIM:614369)
Gene: MYH14
Phenotype: Progressive sensorineural hearing impairment (HP:0000408)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 4A (OMIM:600652)
Gene: MYH14
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS (OMIM:614369)
Gene: MYH14
Phenotype: Fatty replacement of skeletal muscle (HP:0012548)
Associated disease: Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome; Peripheral neuropathy-myopathy-hoarseness-deafness syndrome (ORPHA:397744)
Gene: FBXO31
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45 (OMIM:615979)
Gene: FBXO31
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45 (OMIM:615979)
Gene: FBXO31
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45 (OMIM:615979)
Gene: FBXO31
Phenotype: Synophrys (HP:0000664)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45 (OMIM:615979)
Gene: FBXO31
Phenotype: Coarse facial features (HP:0000280)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45 (OMIM:615979)
Gene: FBXO31
Phenotype: Retrognathia (HP:0000278)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45 (OMIM:615979)
Gene: FBXO31
Phenotype: Flat face (HP:0012368)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45 (OMIM:615979)
Gene: FBXO31
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45 (OMIM:615979)
Gene: FBXO31
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45 (OMIM:615979)
Gene: FBXO31
Phenotype: Round face (HP:0000311)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45 (OMIM:615979)
Gene: FBXO31
Phenotype: Short chin (HP:0000331)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45 (OMIM:615979)
Gene: FBXO31
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45 (OMIM:615979)
Gene: FBXO31
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45 (OMIM:615979)
Gene: FBXO31
Phenotype: Deeply set eye (HP:0000490)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45 (OMIM:615979)
Gene: FBXO31
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45 (OMIM:615979)
Gene: FBXO31
Phenotype: Bulbous nose (HP:0000414)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45 (OMIM:615979)
Gene: FBXO31
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45 (OMIM:615979)
Gene: FBXO31
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45 (OMIM:615979)
Gene: FBXO31
Phenotype: Prominent forehead (HP:0011220)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45 (OMIM:615979)
Gene: FBXO31
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45 (OMIM:615979)
Gene: ALG9
Phenotype: Poor speech (HP:0002465)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG9
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG9
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG9
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Seizure (HP:0001250)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Seizure (HP:0001250)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Hypotonia (HP:0001252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Hypotonia (HP:0001252)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Hitchhiker thumb (HP:0001234)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Hypoplastic nipples (HP:0002557)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Abnormal renal artery morphology (HP:0008776)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Hypoplasia of the ovary (HP:0008724)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Broad ischia (HP:0100865)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Aplasia cutis congenita of scalp (HP:0007385)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Calcium oxalate nephrolithiasis (HP:0008672)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG9
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG9
Phenotype: Frontotemporal hypertrichosis (HP:0032313)
Associated disease: GILLESSEN-KAESBACH-NISHIMURA SYNDROME (OMIM:263210)
Gene: ALG9
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG9
Phenotype: Flexion contracture (HP:0001371)
Associated disease: GILLESSEN-KAESBACH-NISHIMURA SYNDROME (OMIM:263210)
Gene: ALG9
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG9
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG9
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG9
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GILLESSEN-KAESBACH-NISHIMURA SYNDROME (OMIM:263210)
Gene: ALG9
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG9
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: GILLESSEN-KAESBACH-NISHIMURA SYNDROME (OMIM:263210)
Gene: ALG9
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG9
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG9
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG9
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Ureteral hypoplasia (HP:0032464)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Rhizomelia (HP:0008905)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Wide mouth (HP:0000154)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Wide mouth (HP:0000154)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Polycystic kidney dysplasia (HP:0000113)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Polycystic kidney dysplasia (HP:0000113)
Associated disease: GILLESSEN-KAESBACH-NISHIMURA SYNDROME (OMIM:263210)
Gene: ALG9
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Renal cyst (HP:0000107)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG9
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG9
Phenotype: Periportal fibrosis (HP:0001405)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Periportal fibrosis (HP:0001405)
Associated disease: GILLESSEN-KAESBACH-NISHIMURA SYNDROME (OMIM:263210)
Gene: ALG9
Phenotype: Hepatic cysts (HP:0001407)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)