TaoMedAI/RareMedData huggingface dataset:
Gene: ABCG8
Phenotype: Premature coronary artery atherosclerosis (HP:0005181)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG8
Phenotype: Premature coronary artery atherosclerosis (HP:0005181)
Associated disease: Phytosterolemia; Sitosterolemia (ORPHA:2882)
Gene: ABCG8
Phenotype: Abnormal left ventricular function (HP:0005162)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG8
Phenotype: Angina pectoris (HP:0001681)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG8
Phenotype: Coronary artery atherosclerosis (HP:0001677)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG8
Phenotype: Coronary artery atherosclerosis (HP:0001677)
Associated disease: SITOSTEROLEMIA 1 (OMIM:210250)
Gene: ABCG8
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: Phytosterolemia; Sitosterolemia (ORPHA:2882)
Gene: ABCG8
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG8
Phenotype: Heart murmur (HP:0030148)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG8
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG8
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG8
Phenotype: Myocardial steatosis (HP:0006693)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG8
Phenotype: Splenomegaly (HP:0001744)
Associated disease: SITOSTEROLEMIA 1 (OMIM:210250)
Gene: ABCG8
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Phytosterolemia; Sitosterolemia (ORPHA:2882)
Gene: ABCG8
Phenotype: Abnormal internal carotid artery morphology (HP:3000062)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG8
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: SITOSTEROLEMIA 1 (OMIM:210250)
Gene: ABCG8
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: Phytosterolemia; Sitosterolemia (ORPHA:2882)
Gene: ABCG8
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: SITOSTEROLEMIA 1 (OMIM:210250)
Gene: SOX17
Phenotype: Hydroureter (HP:0000072)
Associated disease: VESICOURETERAL REFLUX 3 (OMIM:613674)
Gene: SOX17
Phenotype: Ureteropelvic junction obstruction (HP:0000074)
Associated disease: VESICOURETERAL REFLUX 3 (OMIM:613674)
Gene: SOX17
Phenotype: Grade III vesicoureteral reflux (HP:0033737)
Associated disease: VESICOURETERAL REFLUX 3 (OMIM:613674)
Gene: SOX17
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: VESICOURETERAL REFLUX 3 (OMIM:613674)
Gene: SOX17
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VESICOURETERAL REFLUX 3 (OMIM:613674)
Gene: SOX17
Phenotype: Grade IV vesicoureteral reflux (HP:0033741)
Associated disease: VESICOURETERAL REFLUX 3 (OMIM:613674)
Gene: SOX17
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: VESICOURETERAL REFLUX 3 (OMIM:613674)
Gene: SOX17
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: VESICOURETERAL REFLUX 3 (OMIM:613674)
Gene: SOX17
Phenotype: Chronic constipation (HP:0012450)
Associated disease: VESICOURETERAL REFLUX 3 (OMIM:613674)
Gene: SOX17
Phenotype: Ureter duplex (HP:0012572)
Associated disease: VESICOURETERAL REFLUX 3 (OMIM:613674)
Gene: NSD1
Phenotype: Large hands (HP:0001176)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Large hands (HP:0001176)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Large hands (HP:0001176)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: NSD1
Phenotype: Expressive language delay (HP:0002474)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Dyscalculia (HP:0002442)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Congenital posterior urethral valve (HP:0010957)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Enlarged naris (HP:0009931)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: High anterior hairline (HP:0009890)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: Del (5)(q35); Distal 5q deletion; Del (5)(qter); Deletion 5q35 syndrome; Telomeric deletion 5q; Monosomy 5q35 (ORPHA:1627)
Gene: NSD1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD1
Phenotype: Stuttering (HP:0025268)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD1
Phenotype: Hypertonia (HP:0001276)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: NSD1
Phenotype: Motor delay (HP:0001270)
Associated disease: Del (5)(q35); Distal 5q deletion; Del (5)(qter); Deletion 5q35 syndrome; Telomeric deletion 5q; Monosomy 5q35 (ORPHA:1627)
Gene: NSD1
Phenotype: Motor delay (HP:0001270)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Seizure (HP:0001250)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Seizure (HP:0001250)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Seizure (HP:0001250)
Associated disease: 5q35 microduplication syndrome; Dup(5)(q35); Trisomy 5q35 (ORPHA:228415)
Gene: NSD1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Hypotonia (HP:0001252)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Del (5)(q35); Distal 5q deletion; Del (5)(qter); Deletion 5q35 syndrome; Telomeric deletion 5q; Monosomy 5q35 (ORPHA:1627)
Gene: NSD1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: NSD1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: 5q35 microduplication syndrome; Dup(5)(q35); Trisomy 5q35 (ORPHA:228415)
Gene: NSD1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: NSD1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Spasticity (HP:0001257)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: NSD1
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: NSD1
Phenotype: Hypoplastic nipples (HP:0002557)
Associated disease: Del (5)(q35); Distal 5q deletion; Del (5)(qter); Deletion 5q35 syndrome; Telomeric deletion 5q; Monosomy 5q35 (ORPHA:1627)
Gene: NSD1
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: NSD1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: NSD1
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Tall stature (HP:0000098)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Tall stature (HP:0000098)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Tall stature (HP:0000098)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: NSD1
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Ureteral duplication (HP:0000073)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Ureteropelvic junction obstruction (HP:0000074)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: NSD1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: NSD1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Hypospadias (HP:0000047)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: NSD1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD1
Phenotype: Hydrocele testis (HP:0000034)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: NSD1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Del (5)(q35); Distal 5q deletion; Del (5)(qter); Deletion 5q35 syndrome; Telomeric deletion 5q; Monosomy 5q35 (ORPHA:1627)
Gene: NSD1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: NSD1
Phenotype: Long phalanx of finger (HP:0006155)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Neoplasm (HP:0002664)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: 5q35 microduplication syndrome; Dup(5)(q35); Trisomy 5q35 (ORPHA:228415)
Gene: NSD1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD1
Phenotype: Absent speech (HP:0001344)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Tremor (HP:0001337)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NSD1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: NSD1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Scoliosis (HP:0002650)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: NSD1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NSD1
Phenotype: Pulmonary bleb (HP:0032447)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Narrow palate (HP:0000189)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NSD1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Decreased fertility (HP:0000144)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Agenesis of permanent teeth (HP:0006349)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Flushing (HP:0031284)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: High, narrow palate (HP:0002705)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Advanced eruption of teeth (HP:0006288)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Del (5)(q35); Distal 5q deletion; Del (5)(qter); Deletion 5q35 syndrome; Telomeric deletion 5q; Monosomy 5q35 (ORPHA:1627)
Gene: NSD1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: 5q35 microduplication syndrome; Dup(5)(q35); Trisomy 5q35 (ORPHA:228415)
Gene: NSD1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Constipation (HP:0002019)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Deep philtrum (HP:0002002)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: NSD1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Long metacarpals (HP:0010493)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Abnormal vertebral morphology (HP:0003468)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Sparse anterior scalp hair (HP:0004768)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: NSD1
Phenotype: Astrocytoma (HP:0009592)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NSD1
Phenotype: Fine hair (HP:0002213)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: NSD1
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NSD1
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Cavum septum pellucidum (HP:0002389)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Cavum septum pellucidum (HP:0002389)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Hemangioma (HP:0001028)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Poor coordination (HP:0002370)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Poor coordination (HP:0002370)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NSD1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NSD1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Cholesteatoma (HP:0009797)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Pedal edema (HP:0010741)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD1
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: NSD1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Nystagmus (HP:0000639)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)