TaoMedAI/RareMedData huggingface dataset:
Gene: DPH2
Phenotype: Epicanthus (HP:0000286)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR 2 (OMIM:620062)
Gene: DPH2
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR 2 (OMIM:620062)
Gene: DPH2
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH2
Phenotype: Camptodactyly (HP:0012385)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH2
Phenotype: Low-set ears (HP:0000369)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH2
Phenotype: Low-set ears (HP:0000369)
Associated disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR 2 (OMIM:620062)
Gene: DPH2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH2
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH2
Phenotype: Pes planus (HP:0001763)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH2
Phenotype: Notched primary central incisor (HP:0012413)
Associated disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR 2 (OMIM:620062)
Gene: DPH2
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH2
Phenotype: Prominent forehead (HP:0011220)
Associated disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR 2 (OMIM:620062)
Gene: DPH2
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPP6
Phenotype: Alternating esotropia (HP:0001137)
Associated disease: Autosomal dominant primary microcephaly (ORPHA:2514)
Gene: DPP6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 33 (OMIM:616311)
Gene: DPP6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2 (OMIM:612956)
Gene: DPP6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 33 (OMIM:616311)
Gene: DPP6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: DPP6
Phenotype: Scoliosis (HP:0002650)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 33 (OMIM:616311)
Gene: DPP6
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 33 (OMIM:616311)
Gene: DPP6
Phenotype: Congenital onset (HP:0003577)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 33 (OMIM:616311)
Gene: DPP6
Phenotype: Chorioretinal degeneration (HP:0200065)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 33 (OMIM:616311)
Gene: DPP6
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: Autosomal dominant primary microcephaly (ORPHA:2514)
Gene: DPP6
Phenotype: Amblyopia (HP:0000646)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 33 (OMIM:616311)
Gene: DPP6
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: Autosomal dominant primary microcephaly (ORPHA:2514)
Gene: DPP6
Phenotype: Decreased body weight (HP:0004325)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 33 (OMIM:616311)
Gene: DPP6
Phenotype: Short stature (HP:0004322)
Associated disease: Autosomal dominant primary microcephaly (ORPHA:2514)
Gene: DPP6
Phenotype: Short stature (HP:0004322)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 33 (OMIM:616311)
Gene: DPP6
Phenotype: Hyperactivity (HP:0000752)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 33 (OMIM:616311)
Gene: DPP6
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: DPP6
Phenotype: Microcephaly (HP:0000252)
Associated disease: Autosomal dominant primary microcephaly (ORPHA:2514)
Gene: DPP6
Phenotype: Microcephaly (HP:0000252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 33 (OMIM:616311)
Gene: DPP6
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: DPP6
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: DPP6
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2 (OMIM:612956)
Gene: DPP6
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: DPP6
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2 (OMIM:612956)
Gene: DPP6
Phenotype: Aborted sudden cardiac death (HP:0031628)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: DPP6
Phenotype: Polymorphic and polytopic ventricular extrasystoles (HP:0006696)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: DPP6
Phenotype: Premature ventricular contraction (HP:0006682)
Associated disease: VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2 (OMIM:612956)
Gene: DPP6
Phenotype: Protruding ear (HP:0000411)
Associated disease: Autosomal dominant primary microcephaly (ORPHA:2514)
Gene: DPYD
Phenotype: Macular hypoplasia (HP:0001104)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Tetraplegia (HP:0002445)
Associated disease: DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (OMIM:274270)
Gene: DPYD
Phenotype: Excessive shyness (HP:0100962)
Associated disease: Del(1)(p21.3); 1p21.3 microdeletion syndrome; Monosomy 1p21.3 (ORPHA:293948)
Gene: DPYD
Phenotype: Hypertonia (HP:0001276)
Associated disease: DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (OMIM:274270)
Gene: DPYD
Phenotype: Hypertonia (HP:0001276)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (OMIM:274270)
Gene: DPYD
Phenotype: Motor delay (HP:0001270)
Associated disease: DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (OMIM:274270)
Gene: DPYD
Phenotype: Areflexia (HP:0001284)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Lethargy (HP:0001254)
Associated disease: DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (OMIM:274270)
Gene: DPYD
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Del(1)(p21.3); 1p21.3 microdeletion syndrome; Monosomy 1p21.3 (ORPHA:293948)
Gene: DPYD
Phenotype: Seizure (HP:0001250)
Associated disease: DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (OMIM:274270)
Gene: DPYD
Phenotype: Seizure (HP:0001250)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Hypotonia (HP:0001252)
Associated disease: DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (OMIM:274270)
Gene: DPYD
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (OMIM:274270)
Gene: DPYD
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Del(1)(p21.3); 1p21.3 microdeletion syndrome; Monosomy 1p21.3 (ORPHA:293948)
Gene: DPYD
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Del(1)(p21.3); 1p21.3 microdeletion syndrome; Monosomy 1p21.3 (ORPHA:293948)
Gene: DPYD
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Inability to walk (HP:0002540)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Del(1)(p21.3); 1p21.3 microdeletion syndrome; Monosomy 1p21.3 (ORPHA:293948)
Gene: DPYD
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Deep palmar crease (HP:0006191)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Absent speech (HP:0001344)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (OMIM:274270)
Gene: DPYD
Phenotype: Open mouth (HP:0000194)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Uraciluria (HP:0012127)
Associated disease: DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (OMIM:274270)
Gene: DPYD
Phenotype: Uraciluria (HP:0012127)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Wide mouth (HP:0000154)
Associated disease: Del(1)(p21.3); 1p21.3 microdeletion syndrome; Monosomy 1p21.3 (ORPHA:293948)
Gene: DPYD
Phenotype: Floppy infant (HP:0008947)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Poor suck (HP:0002033)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Deep philtrum (HP:0002002)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Elevated urinary dihydrothymine level (HP:6000119)
Associated disease: DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (OMIM:274270)
Gene: DPYD
Phenotype: Palpebral thickening (HP:0030939)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (OMIM:274270)
Gene: DPYD
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Infantile onset (HP:0003593)
Associated disease: DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (OMIM:274270)
Gene: DPYD
Phenotype: Congenital onset (HP:0003577)
Associated disease: DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (OMIM:274270)
Gene: DPYD
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: Del(1)(p21.3); 1p21.3 microdeletion syndrome; Monosomy 1p21.3 (ORPHA:293948)
Gene: DPYD
Phenotype: Respiratory failure requiring assisted ventilation (HP:0004887)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Large earlobe (HP:0009748)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Abnormal eating behavior (HP:0100738)
Associated disease: Del(1)(p21.3); 1p21.3 microdeletion syndrome; Monosomy 1p21.3 (ORPHA:293948)
Gene: DPYD
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Reduced dihydropyrimidine dehydrogenase level (HP:0003654)
Associated disease: DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (OMIM:274270)
Gene: DPYD
Phenotype: Reduced dihydropyrimidine dehydrogenase level (HP:0003654)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (OMIM:274270)
Gene: DPYD
Phenotype: Severe expressive language delay (HP:0006863)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Nystagmus (HP:0000639)
Associated disease: DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (OMIM:274270)
Gene: DPYD
Phenotype: Nystagmus (HP:0000639)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Optic atrophy (HP:0000648)
Associated disease: DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (OMIM:274270)
Gene: DPYD
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Long ear (HP:0400004)
Associated disease: Del(1)(p21.3); 1p21.3 microdeletion syndrome; Monosomy 1p21.3 (ORPHA:293948)
Gene: DPYD
Phenotype: Hyperactivity (HP:0000752)
Associated disease: DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (OMIM:274270)
Gene: DPYD
Phenotype: Irritability (HP:0000737)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (OMIM:274270)
Gene: DPYD
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Del(1)(p21.3); 1p21.3 microdeletion syndrome; Monosomy 1p21.3 (ORPHA:293948)
Gene: DPYD
Phenotype: Self-mutilation (HP:0000742)
Associated disease: Del(1)(p21.3); 1p21.3 microdeletion syndrome; Monosomy 1p21.3 (ORPHA:293948)
Gene: DPYD
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Del(1)(p21.3); 1p21.3 microdeletion syndrome; Monosomy 1p21.3 (ORPHA:293948)
Gene: DPYD
Phenotype: Autism (HP:0000717)
Associated disease: DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (OMIM:274270)
Gene: DPYD
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Del(1)(p21.3); 1p21.3 microdeletion syndrome; Monosomy 1p21.3 (ORPHA:293948)
Gene: DPYD
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Del(1)(p21.3); 1p21.3 microdeletion syndrome; Monosomy 1p21.3 (ORPHA:293948)
Gene: DPYD
Phenotype: Childhood onset (HP:0011463)
Associated disease: DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (OMIM:274270)
Gene: DPYD
Phenotype: Short nose (HP:0003196)
Associated disease: Del(1)(p21.3); 1p21.3 microdeletion syndrome; Monosomy 1p21.3 (ORPHA:293948)
Gene: DPYD
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Retrognathia (HP:0000278)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Full cheeks (HP:0000293)
Associated disease: Del(1)(p21.3); 1p21.3 microdeletion syndrome; Monosomy 1p21.3 (ORPHA:293948)
Gene: DPYD
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Del(1)(p21.3); 1p21.3 microdeletion syndrome; Monosomy 1p21.3 (ORPHA:293948)
Gene: DPYD
Phenotype: Microcephaly (HP:0000252)
Associated disease: DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (OMIM:274270)
Gene: DPYD
Phenotype: Microcephaly (HP:0000252)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: High palate (HP:0000218)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Failure to thrive (HP:0001508)
Associated disease: DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (OMIM:274270)
Gene: DPYD
Phenotype: Growth delay (HP:0001510)
Associated disease: DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (OMIM:274270)
Gene: DPYD
Phenotype: Obesity (HP:0001513)
Associated disease: Del(1)(p21.3); 1p21.3 microdeletion syndrome; Monosomy 1p21.3 (ORPHA:293948)
Gene: DPYD
Phenotype: Micrognathia (HP:0000347)
Associated disease: Del(1)(p21.3); 1p21.3 microdeletion syndrome; Monosomy 1p21.3 (ORPHA:293948)
Gene: DPYD
Phenotype: Micromelia (HP:0002983)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Prominent nasal tip (HP:0005274)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Astigmatism (HP:0000483)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Astigmatism (HP:0000483)
Associated disease: Del(1)(p21.3); 1p21.3 microdeletion syndrome; Monosomy 1p21.3 (ORPHA:293948)
Gene: DPYD
Phenotype: Strabismus (HP:0000486)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Microcornea (HP:0000482)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Del(1)(p21.3); 1p21.3 microdeletion syndrome; Monosomy 1p21.3 (ORPHA:293948)
Gene: DPYD
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: Del(1)(p21.3); 1p21.3 microdeletion syndrome; Monosomy 1p21.3 (ORPHA:293948)
Gene: DPYD
Phenotype: Short neck (HP:0000470)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Abnormal social behavior (HP:0012433)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Short nail (HP:0001799)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Long eyelashes (HP:0000527)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Del(1)(p21.3); 1p21.3 microdeletion syndrome; Monosomy 1p21.3 (ORPHA:293948)
Gene: DPYD
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Del(1)(p21.3); 1p21.3 microdeletion syndrome; Monosomy 1p21.3 (ORPHA:293948)
Gene: DPYD
Phenotype: Coloboma (HP:0000589)
Associated disease: DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (OMIM:274270)