TaoMedAI/RareMedData huggingface dataset:
Gene: UBA1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Infantile-onset X-linked spinal muscular atrophy; SMAX2; X-linked distal arthrogryposis multiplex congenita; Spinal muscular atrophy with arthrogryposis; X-linked spinal muscular atrophy type 2 (ORPHA:1145)
Gene: UBA1
Phenotype: Hip contracture (HP:0003273)
Associated disease: Infantile-onset X-linked spinal muscular atrophy; SMAX2; X-linked distal arthrogryposis multiplex congenita; Spinal muscular atrophy with arthrogryposis; X-linked spinal muscular atrophy type 2 (ORPHA:1145)
Gene: UBA1
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: Infantile-onset X-linked spinal muscular atrophy; SMAX2; X-linked distal arthrogryposis multiplex congenita; Spinal muscular atrophy with arthrogryposis; X-linked spinal muscular atrophy type 2 (ORPHA:1145)
Gene: UBA1
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: VEXAS SYNDROME (OMIM:301054)
Gene: UBA1
Phenotype: Arthralgia (HP:0002829)
Associated disease: VEXAS SYNDROME (OMIM:301054)
Gene: UBA1
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: SPINAL MUSCULAR ATROPHY, X-LINKED 2 (OMIM:301830)
Gene: UBA1
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: SPINAL MUSCULAR ATROPHY, X-LINKED 2 (OMIM:301830)
Gene: UBA1
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Infantile-onset X-linked spinal muscular atrophy; SMAX2; X-linked distal arthrogryposis multiplex congenita; Spinal muscular atrophy with arthrogryposis; X-linked spinal muscular atrophy type 2 (ORPHA:1145)
Gene: UBA1
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: Infantile-onset X-linked spinal muscular atrophy; SMAX2; X-linked distal arthrogryposis multiplex congenita; Spinal muscular atrophy with arthrogryposis; X-linked spinal muscular atrophy type 2 (ORPHA:1145)
Gene: UBA1
Phenotype: High palate (HP:0000218)
Associated disease: Infantile-onset X-linked spinal muscular atrophy; SMAX2; X-linked distal arthrogryposis multiplex congenita; Spinal muscular atrophy with arthrogryposis; X-linked spinal muscular atrophy type 2 (ORPHA:1145)
Gene: UBA1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: SPINAL MUSCULAR ATROPHY, X-LINKED 2 (OMIM:301830)
Gene: UBA1
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: VEXAS SYNDROME (OMIM:301054)
Gene: UBA1
Phenotype: Fatigue (HP:0012378)
Associated disease: VEXAS SYNDROME (OMIM:301054)
Gene: UBA1
Phenotype: Weak cry (HP:0001612)
Associated disease: SPINAL MUSCULAR ATROPHY, X-LINKED 2 (OMIM:301830)
Gene: UBA1
Phenotype: Micrognathia (HP:0000347)
Associated disease: SPINAL MUSCULAR ATROPHY, X-LINKED 2 (OMIM:301830)
Gene: UBA1
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: Infantile-onset X-linked spinal muscular atrophy; SMAX2; X-linked distal arthrogryposis multiplex congenita; Spinal muscular atrophy with arthrogryposis; X-linked spinal muscular atrophy type 2 (ORPHA:1145)
Gene: UBA1
Phenotype: Night sweats (HP:0030166)
Associated disease: VEXAS SYNDROME (OMIM:301054)
Gene: UBA1
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: Infantile-onset X-linked spinal muscular atrophy; SMAX2; X-linked distal arthrogryposis multiplex congenita; Spinal muscular atrophy with arthrogryposis; X-linked spinal muscular atrophy type 2 (ORPHA:1145)
Gene: UBA1
Phenotype: Persistent head lag (HP:0032988)
Associated disease: SPINAL MUSCULAR ATROPHY, X-LINKED 2 (OMIM:301830)
Gene: UBA1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: VEXAS SYNDROME (OMIM:301054)
Gene: UBA1
Phenotype: Inflammatory abnormality of the skin (HP:0011123)
Associated disease: VEXAS SYNDROME (OMIM:301054)
Gene: UBA1
Phenotype: Ptosis (HP:0000508)
Associated disease: SPINAL MUSCULAR ATROPHY, X-LINKED 2 (OMIM:301830)
Gene: UBA1
Phenotype: Erythroid dysplasia (HP:0031688)
Associated disease: VEXAS SYNDROME (OMIM:301054)
Gene: UBA1
Phenotype: Megakaryocyte dysplasia (HP:0031689)
Associated disease: VEXAS SYNDROME (OMIM:301054)
Gene: UBA1
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: VEXAS SYNDROME (OMIM:301054)
Gene: UBA1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: VEXAS SYNDROME (OMIM:301054)
Gene: UBE2A
Phenotype: Poor speech (HP:0002465)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE (OMIM:300860)
Gene: UBE2A
Phenotype: Poor speech (HP:0002465)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Recurrent cutaneous abscess formation (HP:0100838)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE (OMIM:300860)
Gene: UBE2A
Phenotype: Seizure (HP:0001250)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE (OMIM:300860)
Gene: UBE2A
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE (OMIM:300860)
Gene: UBE2A
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Micropenis (HP:0000054)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Micropenis (HP:0000054)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE (OMIM:300860)
Gene: UBE2A
Phenotype: Hypospadias (HP:0000047)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Patchy hypo- and hyperpigmentation (HP:0007509)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Absent speech (HP:0001344)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE (OMIM:300860)
Gene: UBE2A
Phenotype: Wide mouth (HP:0000154)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Wide mouth (HP:0000154)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE (OMIM:300860)
Gene: UBE2A
Phenotype: Recurrent ear infections (HP:0410018)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE (OMIM:300860)
Gene: UBE2A
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE (OMIM:300860)
Gene: UBE2A
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE (OMIM:300860)
Gene: UBE2A
Phenotype: Deep philtrum (HP:0002002)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Midface retrusion (HP:0011800)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE (OMIM:300860)
Gene: UBE2A
Phenotype: Midface retrusion (HP:0011800)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Lumbar hypertrichosis (HP:0011913)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE (OMIM:300860)
Gene: UBE2A
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Echolalia (HP:0010529)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE (OMIM:300860)
Gene: UBE2A
Phenotype: Echolalia (HP:0010529)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE (OMIM:300860)
Gene: UBE2A
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE (OMIM:300860)
Gene: UBE2A
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Abnormal hair whorl (HP:0010721)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE (OMIM:300860)
Gene: UBE2A
Phenotype: Abnormal hair whorl (HP:0010721)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE (OMIM:300860)
Gene: UBE2A
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Clubbing of toes (HP:0100760)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Hirsutism (HP:0001007)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE (OMIM:300860)
Gene: UBE2A
Phenotype: Hypointensity of cerebral white matter on MRI (HP:0007103)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE (OMIM:300860)
Gene: UBE2A
Phenotype: Hypointensity of cerebral white matter on MRI (HP:0007103)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Low hanging columella (HP:0009765)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Peripheral pulmonary artery stenosis (HP:0004969)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Spotty hypopigmentation (HP:0005590)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE (OMIM:300860)
Gene: UBE2A
Phenotype: Broad hallux (HP:0010055)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE (OMIM:300860)
Gene: UBE2A
Phenotype: Synophrys (HP:0000664)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Synophrys (HP:0000664)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE (OMIM:300860)
Gene: UBE2A
Phenotype: Increased body weight (HP:0004324)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE (OMIM:300860)
Gene: UBE2A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE (OMIM:300860)
Gene: UBE2A
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE (OMIM:300860)
Gene: UBE2A
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Preauricular pit (HP:0004467)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Neonatal hyperbilirubinemia (HP:0003265)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Dry skin (HP:0000958)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Dry skin (HP:0000958)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE (OMIM:300860)
Gene: UBE2A
Phenotype: Broad face (HP:0000283)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE (OMIM:300860)
Gene: UBE2A
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE (OMIM:300860)
Gene: UBE2A
Phenotype: Macrocephaly (HP:0000256)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Malar flattening (HP:0000272)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE (OMIM:300860)
Gene: UBE2A
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE (OMIM:300860)
Gene: UBE2A
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE (OMIM:300860)
Gene: UBE2A
Phenotype: Hearing impairment (HP:0000365)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE (OMIM:300860)
Gene: UBE2A
Phenotype: High forehead (HP:0000348)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Hypertelorism (HP:0000316)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE (OMIM:300860)
Gene: UBE2A
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE (OMIM:300860)
Gene: UBE2A
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Lower extremity joint dislocation (HP:0030311)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Abnormal vena cava morphology (HP:0005345)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Macrotia (HP:0000400)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Mitral stenosis (HP:0001718)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE (OMIM:300860)
Gene: UBE2A
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Strabismus (HP:0000486)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Deeply set eye (HP:0000490)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE (OMIM:300860)
Gene: UBE2A
Phenotype: Chronic constipation (HP:0012450)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Broad neck (HP:0000475)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE (OMIM:300860)
Gene: UBE2A
Phenotype: Broad neck (HP:0000475)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Short neck (HP:0000470)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE (OMIM:300860)
Gene: UBE2A
Phenotype: Short foot (HP:0001773)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE (OMIM:300860)
Gene: UBE2A
Phenotype: Short foot (HP:0001773)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Pes planus (HP:0001763)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE (OMIM:300860)
Gene: UBE2A
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Pes cavus (HP:0001761)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Developmental cataract (HP:0000519)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Overlapping toe (HP:0001845)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE (OMIM:300860)
Gene: UBE2A
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2A
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: X-linked intellectual disability-nail dystrophy-seizures syndrome; X-linked intellectual disability, Nascimento type (ORPHA:163956)
Gene: UBE2L3
Phenotype: Anti-La/SS-B antibody positivity (HP:0032235)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: UBE2L3
Phenotype: Anti-nucleoporin 62 antibody positivity (HP:0033556)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: UBE2L3
Phenotype: Cheilitis (HP:0100825)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: UBE2L3
Phenotype: Seizure (HP:0001250)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)