TaoMedAI/RareMedData huggingface dataset:
Gene: NSD2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD2
Phenotype: Short upper lip (HP:0000188)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD2
Phenotype: Abnormal lip morphology (HP:0000159)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Cleft palate (HP:0000175)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Cleft palate (HP:0000175)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD2
Phenotype: Abnormality of the mouth (HP:0000153)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Aplasia of the uterus (HP:0000151)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Aplasia of the uterus (HP:0000151)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Abnormality of the immune system (HP:0002715)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Abdominal situs inversus (HP:0003363)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Prominent glabella (HP:0002057)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD2
Phenotype: Streak ovary (HP:0010464)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Tethered cord (HP:0002144)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Tethered cord (HP:0002144)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Abnormal vertebral morphology (HP:0003468)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Malrotation of small bowel (HP:0004794)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Abnormal sternal ossification (HP:0011863)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Hyperechogenic kidneys (HP:0004719)
Associated disease: RAUCH-STEINDL SYNDROME (OMIM:619695)
Gene: NSD2
Phenotype: Infantile onset (HP:0003593)
Associated disease: RAUCH-STEINDL SYNDROME (OMIM:619695)
Gene: NSD2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: RAUCH-STEINDL SYNDROME (OMIM:619695)
Gene: NSD2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Hernia (HP:0100790)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: RAUCH-STEINDL SYNDROME (OMIM:619695)
Gene: NSD2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD2
Phenotype: Cavum septum pellucidum (HP:0002389)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Hemangioma (HP:0001028)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Hemangioma (HP:0001028)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: EEG abnormality (HP:0002353)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD2
Phenotype: Biliary tract abnormality (HP:0001080)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Periventricular cysts (HP:0007109)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Short thumb (HP:0009778)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Short thumb (HP:0009778)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: RAUCH-STEINDL SYNDROME (OMIM:619695)
Gene: NSD2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD2
Phenotype: Nystagmus (HP:0000639)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Sclerocornea (HP:0000647)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Iris coloboma (HP:0000612)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Periorbital fullness (HP:0000629)
Associated disease: RAUCH-STEINDL SYNDROME (OMIM:619695)
Gene: NSD2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD2
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Taurodontia (HP:0000679)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD2
Phenotype: Hypodontia (HP:0000668)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Hypodontia (HP:0000668)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD2
Phenotype: Short stature (HP:0004322)
Associated disease: RAUCH-STEINDL SYNDROME (OMIM:619695)
Gene: NSD2
Phenotype: Short stature (HP:0004322)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Metacarpal pseudoepiphysis (HP:0009193)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD2
Phenotype: Hyperactivity (HP:0000752)
Associated disease: RAUCH-STEINDL SYNDROME (OMIM:619695)
Gene: NSD2
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD2
Phenotype: Abnormal thorax morphology (HP:0000765)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD2
Phenotype: Anxiety (HP:0000739)
Associated disease: RAUCH-STEINDL SYNDROME (OMIM:619695)
Gene: NSD2
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: RAUCH-STEINDL SYNDROME (OMIM:619695)
Gene: NSD2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: RAUCH-STEINDL SYNDROME (OMIM:619695)
Gene: NSD2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: RAUCH-STEINDL SYNDROME (OMIM:619695)
Gene: NSD2
Phenotype: Fetal onset (HP:0011461)
Associated disease: RAUCH-STEINDL SYNDROME (OMIM:619695)
Gene: NSD2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD2
Phenotype: Short hallux (HP:0010109)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Short hallux (HP:0010109)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD2
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Abnormality of the vertebral column (HP:0000925)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD2
Phenotype: Rib fusion (HP:0000902)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Rib fusion (HP:0000902)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Craniofacial asymmetry (HP:0004484)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD2
Phenotype: Preauricular pit (HP:0004467)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Preauricular pit (HP:0004467)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD2
Phenotype: Precocious puberty (HP:0000826)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD2
Phenotype: Dry skin (HP:0000958)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD2
Phenotype: Sacral dimple (HP:0000960)
Associated disease: RAUCH-STEINDL SYNDROME (OMIM:619695)
Gene: NSD2
Phenotype: Sacral dimple (HP:0000960)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Sacral dimple (HP:0000960)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Epicanthus (HP:0000286)
Associated disease: RAUCH-STEINDL SYNDROME (OMIM:619695)
Gene: NSD2
Phenotype: Epicanthus (HP:0000286)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Epicanthus (HP:0000286)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD2
Phenotype: Abnormality of the philtrum (HP:0000288)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD2
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD2
Phenotype: Kyphosis (HP:0002808)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Kyphosis (HP:0002808)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Microcephaly (HP:0000252)
Associated disease: RAUCH-STEINDL SYNDROME (OMIM:619695)
Gene: NSD2
Phenotype: Microcephaly (HP:0000252)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD2
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: RAUCH-STEINDL SYNDROME (OMIM:619695)
Gene: NSD2
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD2
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD2
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: RAUCH-STEINDL SYNDROME (OMIM:619695)
Gene: NSD2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Disproportionate tall stature (HP:0001519)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Small for gestational age (HP:0001518)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: RAUCH-STEINDL SYNDROME (OMIM:619695)
Gene: NSD2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD2
Phenotype: Growth delay (HP:0001510)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD2
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD2
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Miscarriage (HP:0005268)
Associated disease: RAUCH-STEINDL SYNDROME (OMIM:619695)
Gene: NSD2
Phenotype: Abnormality of the gallbladder (HP:0005264)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: RAUCH-STEINDL SYNDROME (OMIM:619695)
Gene: NSD2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD2
Phenotype: Vertebral fusion (HP:0002948)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)