TaoMedAI/RareMedData huggingface dataset:
Gene: CCNK
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES (OMIM:618147)
Gene: CCNK
Phenotype: Delayed early-childhood social milestone development (HP:0012434)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES (OMIM:618147)
Gene: CCNK
Phenotype: Pes planus (HP:0001763)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES (OMIM:618147)
Gene: CCNK
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES (OMIM:618147)
Gene: DPM1
Phenotype: Abnormal macular morphology (HP:0001103)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPM1
Phenotype: Encephalopathy (HP:0001298)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPM1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Seizure (HP:0001250)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: Seizure (HP:0001250)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Hypotonia (HP:0001252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Ataxia (HP:0001251)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: Ataxia (HP:0001251)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Spasticity (HP:0001257)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Hypoplasia of the frontal lobes (HP:0007333)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPM1
Phenotype: Variable expressivity (HP:0003828)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPM1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPM1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Tremor (HP:0001337)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPM1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPM1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPM1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Floppy infant (HP:0008947)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: High, narrow palate (HP:0002705)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: High, narrow palate (HP:0002705)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Abnormal visual fixation (HP:0025404)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Diarrhea (HP:0002014)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Prominent glabella (HP:0002057)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPM1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Infantile onset (HP:0003593)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Reduced protein S activity (HP:0004855)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: Reduced protein S activity (HP:0004855)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: Hemangioma (HP:0001028)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: Progressive (HP:0003676)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: Telangiectasia (HP:0001009)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPM1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Atonic seizure (HP:0010819)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: U-Shaped upper lip vermilion (HP:0010806)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Upper limb undergrowth (HP:0009824)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Small hand (HP:0200055)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPM1
Phenotype: Type I transferrin isoform profile (HP:0003642)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPM1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPM1
Phenotype: Reduced protein C activity (HP:0005543)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: Reduced protein C activity (HP:0005543)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Short palm (HP:0004279)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: Pontocerebellar atrophy (HP:0006879)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: Pontocerebellar atrophy (HP:0006879)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Nystagmus (HP:0000639)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: Nystagmus (HP:0000639)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPM1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPM1
Phenotype: Reduced antithrombin III activity (HP:0001976)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: Reduced antithrombin III activity (HP:0001976)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPM1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPM1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPM1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPM1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Inverted nipples (HP:0003186)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Abnormal dentate nucleus morphology (HP:0100321)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPM1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPM1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPM1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)