TaoMedAI/RareMedData huggingface dataset:
Gene: -
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Precocious puberty (HP:0000826)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Delayed puberty (HP:0000823)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Edema (HP:0000969)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Osteoporosis (HP:0000939)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Osteopenia (HP:0000938)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Clinodactyly (HP:0030084)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Kyphosis (HP:0002808)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Class III obesity (HP:0025501)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Genu valgum (HP:0002857)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Obesity (HP:0001513)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Narrow forehead (HP:0000341)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Breech presentation (HP:0001623)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Strabismus (HP:0000486)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Chronic constipation (HP:0012450)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Short foot (HP:0001773)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Esotropia (HP:0000565)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Hypermetropia (HP:0000540)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Myopia (HP:0000545)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: -
Phenotype: Syndactyly (HP:0001159)
Associated disease: SILVER-RUSSELL SYNDROME 1 (OMIM:180860)
Gene: -
Phenotype: Congenital posterior urethral valve (HP:0010957)
Associated disease: SILVER-RUSSELL SYNDROME 1 (OMIM:180860)
Gene: -
Phenotype: Sporadic (HP:0003745)
Associated disease: SILVER-RUSSELL SYNDROME 1 (OMIM:180860)
Gene: -
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SILVER-RUSSELL SYNDROME 1 (OMIM:180860)
Gene: -
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: -
Phenotype: Abnormality of the ureter (HP:0000069)
Associated disease: SILVER-RUSSELL SYNDROME 1 (OMIM:180860)
Gene: -
Phenotype: Hypospadias (HP:0000047)
Associated disease: SILVER-RUSSELL SYNDROME 1 (OMIM:180860)
Gene: -
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: -
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: -
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: SILVER-RUSSELL SYNDROME 1 (OMIM:180860)
Gene: -
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: WILMS TUMOR 2 (OMIM:194071)
Gene: -
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SILVER-RUSSELL SYNDROME 1 (OMIM:180860)
Gene: -
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: -
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WILMS TUMOR 2 (OMIM:194071)
Gene: -
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: -
Phenotype: Macroglossia (HP:0000158)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: -
Phenotype: Gonadoblastoma (HP:0000150)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: -
Phenotype: Pancreatic hyperplasia (HP:0006277)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: -
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: -
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: WILMS TUMOR 2 (OMIM:194071)
Gene: -
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: -
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: SILVER-RUSSELL SYNDROME 1 (OMIM:180860)
Gene: -
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: SILVER-RUSSELL SYNDROME 1 (OMIM:180860)
Gene: -
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: SILVER-RUSSELL SYNDROME 1 (OMIM:180860)
Gene: -
Phenotype: Frontal bossing (HP:0002007)
Associated disease: SILVER-RUSSELL SYNDROME 1 (OMIM:180860)
Gene: -
Phenotype: Midface retrusion (HP:0011800)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: -
Phenotype: Adrenocortical cytomegaly (HP:0008186)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: -
Phenotype: Urethral valve (HP:0010481)
Associated disease: SILVER-RUSSELL SYNDROME 1 (OMIM:180860)
Gene: -
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: -
Phenotype: Nevus flammeus (HP:0001052)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: -
Phenotype: Posterior helix pit (HP:0008523)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: -
Phenotype: Testicular seminoma (HP:0100617)
Associated disease: SILVER-RUSSELL SYNDROME 1 (OMIM:180860)
Gene: -
Phenotype: Placental mesenchymal dysplasia (HP:0032165)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: -
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: SILVER-RUSSELL SYNDROME 1 (OMIM:180860)
Gene: -
Phenotype: Short middle phalanx of the 5th finger (HP:0004220)
Associated disease: SILVER-RUSSELL SYNDROME 1 (OMIM:180860)
Gene: -
Phenotype: Short distal phalanx of the 5th finger (HP:0004227)
Associated disease: SILVER-RUSSELL SYNDROME 1 (OMIM:180860)
Gene: -
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: -
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: -
Phenotype: Renal cortical cysts (HP:0000803)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: -
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: -
Phenotype: Fasting hypoglycemia (HP:0003162)
Associated disease: SILVER-RUSSELL SYNDROME 1 (OMIM:180860)
Gene: -
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: SILVER-RUSSELL SYNDROME 1 (OMIM:180860)
Gene: -
Phenotype: Overgrowth of external genitalia (HP:0003247)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: -
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: SILVER-RUSSELL SYNDROME 1 (OMIM:180860)
Gene: -
Phenotype: Coarse facial features (HP:0000280)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: -
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: SILVER-RUSSELL SYNDROME 1 (OMIM:180860)
Gene: -
Phenotype: Prominent occiput (HP:0000269)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: -
Phenotype: Craniopharyngioma (HP:0030062)
Associated disease: SILVER-RUSSELL SYNDROME 1 (OMIM:180860)
Gene: -
Phenotype: Large fontanelles (HP:0000239)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: -
Phenotype: Hepatoblastoma (HP:0002884)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: -
Phenotype: Overgrowth (HP:0001548)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: -
Phenotype: Hemihypertrophy (HP:0001528)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: -
Phenotype: Diastasis recti (HP:0001540)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: -
Phenotype: Omphalocele (HP:0001539)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: -
Phenotype: Small for gestational age (HP:0001518)
Associated disease: SILVER-RUSSELL SYNDROME 1 (OMIM:180860)
Gene: -
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: SILVER-RUSSELL SYNDROME 1 (OMIM:180860)
Gene: -
Phenotype: Micrognathia (HP:0000347)
Associated disease: SILVER-RUSSELL SYNDROME 1 (OMIM:180860)
Gene: -
Phenotype: Triangular face (HP:0000325)
Associated disease: SILVER-RUSSELL SYNDROME 1 (OMIM:180860)
Gene: -
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: SILVER-RUSSELL SYNDROME 1 (OMIM:180860)
Gene: -
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: -
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: -
Phenotype: Adrenocortical carcinoma (HP:0006744)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: -
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: -
Phenotype: Craniofacial disproportion (HP:0005461)
Associated disease: SILVER-RUSSELL SYNDROME 1 (OMIM:180860)
Gene: -
Phenotype: Proptosis (HP:0000520)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: -
Phenotype: Blue sclerae (HP:0000592)
Associated disease: SILVER-RUSSELL SYNDROME 1 (OMIM:180860)
Gene: -
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: POLYDACTYLY, PREAXIAL II (OMIM:174500)
Gene: -
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: POLYDACTYLY, PREAXIAL II (OMIM:174500)
Gene: -
Phenotype: Syndactyly (HP:0001159)
Associated disease: POLYDACTYLY, PREAXIAL II (OMIM:174500)
Gene: -
Phenotype: Duplication of thumb phalanx (HP:0009942)
Associated disease: POLYDACTYLY, PREAXIAL II (OMIM:174500)
Gene: -
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: TIBIA, HYPOPLASIA OR APLASIA OF, WITH POLYDACTYLY (OMIM:188740)
Gene: -
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TIBIA, HYPOPLASIA OR APLASIA OF, WITH POLYDACTYLY (OMIM:188740)
Gene: -
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: POLYDACTYLY, PREAXIAL II (OMIM:174500)
Gene: -
Phenotype: Complete duplication of distal phalanx of the thumb (HP:0009606)
Associated disease: POLYDACTYLY, PREAXIAL II (OMIM:174500)
Gene: -
Phenotype: Absent tibia (HP:0009556)
Associated disease: TIBIA, HYPOPLASIA OR APLASIA OF, WITH POLYDACTYLY (OMIM:188740)
Gene: -
Phenotype: Fibular duplication (HP:0010503)
Associated disease: TIBIA, HYPOPLASIA OR APLASIA OF, WITH POLYDACTYLY (OMIM:188740)
Gene: -
Phenotype: Congenital onset (HP:0003577)
Associated disease: TIBIA, HYPOPLASIA OR APLASIA OF, WITH POLYDACTYLY (OMIM:188740)
Gene: -
Phenotype: Duplication of phalanx of hallux (HP:0010066)
Associated disease: POLYDACTYLY, PREAXIAL II (OMIM:174500)
Gene: -
Phenotype: Short tibia (HP:0005736)
Associated disease: TIBIA, HYPOPLASIA OR APLASIA OF, WITH POLYDACTYLY (OMIM:188740)
Gene: -
Phenotype: Opposable triphalangeal thumb (HP:0005866)
Associated disease: POLYDACTYLY, PREAXIAL II (OMIM:174500)
Gene: -
Phenotype: Preaxial polydactyly (HP:0100258)
Associated disease: TIBIA, HYPOPLASIA OR APLASIA OF, WITH POLYDACTYLY (OMIM:188740)
Gene: -
Phenotype: Preaxial foot polydactyly (HP:0001841)
Associated disease: POLYDACTYLY, PREAXIAL II (OMIM:174500)
Gene: -
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: POLYDACTYLY, PREAXIAL II (OMIM:174500)
Gene: -
Phenotype: Reduced beta/alpha synthesis ratio (HP:0011906)
Associated disease: BETA-THALASSEMIA (OMIM:613985)
Gene: -
Phenotype: Hypochromic microcytic anemia (HP:0004840)
Associated disease: BETA-THALASSEMIA (OMIM:613985)
Gene: -
Phenotype: Chorioretinal dystrophy (HP:0001135)
Associated disease: CHORIORETINAL ATROPHY, PROGRESSIVE BIFOCAL (OMIM:600790)
Gene: -
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE (OMIM:136550)
Gene: -
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHORIORETINAL ATROPHY, PROGRESSIVE BIFOCAL (OMIM:600790)
Gene: -
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE (OMIM:136550)
Gene: -
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE (OMIM:136550)
Gene: -
Phenotype: Infantile onset (HP:0003593)
Associated disease: MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE (OMIM:136550)
Gene: -
Phenotype: Peripheral retinal atrophy (HP:0200070)
Associated disease: MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE (OMIM:136550)
Gene: -
Phenotype: Nystagmus (HP:0000639)
Associated disease: CHORIORETINAL ATROPHY, PROGRESSIVE BIFOCAL (OMIM:600790)
Gene: -
Phenotype: Central scotoma (HP:0000603)
Associated disease: MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE (OMIM:136550)
Gene: -
Phenotype: Drusen (HP:0011510)
Associated disease: MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE (OMIM:136550)
Gene: -
Phenotype: Abnormality of macular pigmentation (HP:0008002)
Associated disease: MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE (OMIM:136550)
Gene: -
Phenotype: Macular dystrophy (HP:0007754)
Associated disease: MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE (OMIM:136550)
Gene: -
Phenotype: Visual impairment (HP:0000505)
Associated disease: CHORIORETINAL ATROPHY, PROGRESSIVE BIFOCAL (OMIM:600790)
Gene: -
Phenotype: Retinal detachment (HP:0000541)
Associated disease: CHORIORETINAL ATROPHY, PROGRESSIVE BIFOCAL (OMIM:600790)
Gene: -
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: CHORIORETINAL ATROPHY, PROGRESSIVE BIFOCAL (OMIM:600790)
Gene: -
Phenotype: Myopia (HP:0000545)
Associated disease: CHORIORETINAL ATROPHY, PROGRESSIVE BIFOCAL (OMIM:600790)
Gene: NSD2
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Split hand (HP:0001171)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Split hand (HP:0001171)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Ectopia pupillae (HP:0009918)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Attached earlobe (HP:0009907)
Associated disease: RAUCH-STEINDL SYNDROME (OMIM:619695)
Gene: NSD2
Phenotype: High anterior hairline (HP:0009890)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Prominent crus of helix (HP:0009899)
Associated disease: RAUCH-STEINDL SYNDROME (OMIM:619695)
Gene: NSD2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Microtia (HP:0008551)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Sporadic (HP:0003745)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Seizure (HP:0001250)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Seizure (HP:0001250)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Hypotonia (HP:0001252)
Associated disease: RAUCH-STEINDL SYNDROME (OMIM:619695)
Gene: NSD2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD2
Phenotype: Ataxia (HP:0001251)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: RAUCH-STEINDL SYNDROME (OMIM:619695)
Gene: NSD2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: RAUCH-STEINDL SYNDROME (OMIM:619695)
Gene: NSD2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD2
Phenotype: Aplasia cutis congenita of scalp (HP:0007385)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Aplasia cutis congenita of scalp (HP:0007385)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: RAUCH-STEINDL SYNDROME (OMIM:619695)
Gene: NSD2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD2
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Abnormality of the genital system (HP:0000078)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD2
Phenotype: Hypospadias (HP:0000047)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Hypospadias (HP:0000047)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD2
Phenotype: Calvarial skull defect (HP:0001362)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: RAUCH-STEINDL SYNDROME (OMIM:619695)
Gene: NSD2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD2
Phenotype: Severe postnatal growth retardation (HP:0008850)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Hypoplastic pubic ramus (HP:0008830)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: NSD2
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSD2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RAUCH-STEINDL SYNDROME (OMIM:619695)
Gene: NSD2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: NSD2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSD2
Phenotype: Scoliosis (HP:0002650)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)