TaoMedAI/RareMedData huggingface dataset:
Gene: NSD1
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NSD1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Glucose intolerance (HP:0001952)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NSD1
Phenotype: Delayed eruption of permanent teeth (HP:0000696)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NSD1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Broad thumb (HP:0011304)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: NSD1
Phenotype: Hypodontia (HP:0000668)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Increased body weight (HP:0004324)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Short stature (HP:0004322)
Associated disease: 5q35 microduplication syndrome; Dup(5)(q35); Trisomy 5q35 (ORPHA:228415)
Gene: NSD1
Phenotype: Bilateral camptodactyly (HP:0005617)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: NSD1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: NSD1
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NSD1
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Tall chin (HP:0400000)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Del (5)(q35); Distal 5q deletion; Del (5)(qter); Deletion 5q35 syndrome; Telomeric deletion 5q; Monosomy 5q35 (ORPHA:1627)
Gene: NSD1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Anxiety (HP:0000739)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: 5q35 microduplication syndrome; Dup(5)(q35); Trisomy 5q35 (ORPHA:228415)
Gene: NSD1
Phenotype: Childhood onset (HP:0011463)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Fetal onset (HP:0011461)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Increased arm span (HP:0012771)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Sacrococcygeal teratoma (HP:0030736)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: NSD1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD1
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NSD1
Phenotype: Narrow jaw (HP:0012801)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD1
Phenotype: Hip contracture (HP:0003273)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NSD1
Phenotype: Abnormally low-pitched voice (HP:0010300)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: NSD1
Phenotype: Muscular ventricular septal defect (HP:0011623)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: NSD1
Phenotype: Increased head circumference (HP:0040194)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NSD1
Phenotype: Epicanthus (HP:0000286)
Associated disease: Del (5)(q35); Distal 5q deletion; Del (5)(qter); Deletion 5q35 syndrome; Telomeric deletion 5q; Monosomy 5q35 (ORPHA:1627)
Gene: NSD1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Retrognathia (HP:0000278)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: NSD1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Del (5)(q35); Distal 5q deletion; Del (5)(qter); Deletion 5q35 syndrome; Telomeric deletion 5q; Monosomy 5q35 (ORPHA:1627)
Gene: NSD1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: NSD1
Phenotype: Narrow face (HP:0000275)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Narrow face (HP:0000275)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Long face (HP:0000276)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Long face (HP:0000276)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Kyphosis (HP:0002808)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NSD1
Phenotype: Large fontanelles (HP:0000239)
Associated disease: Del (5)(q35); Distal 5q deletion; Del (5)(qter); Deletion 5q35 syndrome; Telomeric deletion 5q; Monosomy 5q35 (ORPHA:1627)
Gene: NSD1
Phenotype: Microcephaly (HP:0000252)
Associated disease: 5q35 microduplication syndrome; Dup(5)(q35); Trisomy 5q35 (ORPHA:228415)
Gene: NSD1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Redundant skin (HP:0001582)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: NSD1
Phenotype: Overgrowth (HP:0001548)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: High palate (HP:0000218)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Del (5)(q35); Distal 5q deletion; Del (5)(qter); Deletion 5q35 syndrome; Telomeric deletion 5q; Monosomy 5q35 (ORPHA:1627)
Gene: NSD1
Phenotype: Genu valgum (HP:0002857)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NSD1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Growth delay (HP:0001510)
Associated disease: 5q35 microduplication syndrome; Dup(5)(q35); Trisomy 5q35 (ORPHA:228415)
Gene: NSD1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Otitis media (HP:0000388)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Hoarse voice (HP:0001609)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: NSD1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: NSD1
Phenotype: Low-set ears (HP:0000369)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Long philtrum (HP:0000343)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: NSD1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD1
Phenotype: Broad forehead (HP:0000337)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: NSD1
Phenotype: Broad forehead (HP:0000337)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: NSD1
Phenotype: High forehead (HP:0000348)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: NSD1
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NSD1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Del (5)(q35); Distal 5q deletion; Del (5)(qter); Deletion 5q35 syndrome; Telomeric deletion 5q; Monosomy 5q35 (ORPHA:1627)
Gene: NSD1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: NSD1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NSD1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Round face (HP:0000311)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: NSD1
Phenotype: Triangular face (HP:0000325)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NSD1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Del (5)(q35); Distal 5q deletion; Del (5)(qter); Deletion 5q35 syndrome; Telomeric deletion 5q; Monosomy 5q35 (ORPHA:1627)
Gene: NSD1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: NSD1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NSD1
Phenotype: Pointed chin (HP:0000307)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Macrotia (HP:0000400)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Macrotia (HP:0000400)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: NSD1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Astigmatism (HP:0000483)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Strabismus (HP:0000486)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Strabismus (HP:0000486)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NSD1
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NSD1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: NSD1
Phenotype: Small nail (HP:0001792)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Small nail (HP:0001792)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NSD1
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Short neck (HP:0000470)
Associated disease: Del (5)(q35); Distal 5q deletion; Del (5)(qter); Deletion 5q35 syndrome; Telomeric deletion 5q; Monosomy 5q35 (ORPHA:1627)
Gene: NSD1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NSD1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Broad foot (HP:0001769)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: NSD1
Phenotype: Pes planus (HP:0001763)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Pes planus (HP:0001763)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Phimosis (HP:0001741)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: NSD1
Phenotype: Pes cavus (HP:0001761)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: NSD1
Phenotype: Acute lymphoblastic leukemia (HP:0006721)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Cataract (HP:0000518)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: NSD1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Sandal gap (HP:0001852)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: NSD1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD1
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: NSD1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD1
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NSD1
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NSD1
Phenotype: Long foot (HP:0001833)
Associated disease: SOTOS SYNDROME 1 (OMIM:117550)
Gene: NSD1
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: NSD1
Phenotype: Thin nail (HP:0001816)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: NSD1
Phenotype: Deep-set nails (HP:0001814)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)