TaoMedAI/RareMedData huggingface dataset:
Gene: WT1
Phenotype: Hypertension (HP:0000822)
Associated disease: DENYS-DRASH SYNDROME (OMIM:194080)
Gene: WT1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: WT1
Phenotype: Chorioretinal hypopigmentation (HP:0040030)
Associated disease: ANIRIDIA 1 (OMIM:106210)
Gene: WT1
Phenotype: Common atrium (HP:0011565)
Associated disease: MEACHAM SYNDROME (OMIM:608978)
Gene: WT1
Phenotype: Abdominal distention (HP:0003270)
Associated disease: DSRCT; Desmoplastic small round cell tumor (ORPHA:83469)
Gene: WT1
Phenotype: Male infertility (HP:0003251)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: WT1
Phenotype: Gonadal tissue inappropriate for external genitalia or chromosomal sex (HP:0003248)
Associated disease: DENYS-DRASH SYNDROME (OMIM:194080)
Gene: WT1
Phenotype: Scimitar anomaly (HP:0011626)
Associated disease: MEACHAM SYNDROME (OMIM:608978)
Gene: WT1
Phenotype: Edema (HP:0000969)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: WT1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: WT1
Phenotype: Sarcoma (HP:0100242)
Associated disease: DSRCT; Desmoplastic small round cell tumor (ORPHA:83469)
Gene: WT1
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: WT1
Phenotype: Aplasia/Hypoplasia of the iris (HP:0008053)
Associated disease: Del(11)(p13); Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome; WAGR syndrome; Monosomy 11p13; Deletion 11p13 (ORPHA:893)
Gene: WT1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DENYS-DRASH SYNDROME (OMIM:194080)
Gene: WT1
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: DENYS-DRASH SYNDROME (OMIM:194080)
Gene: WT1
Phenotype: Abnormal sex determination (HP:0012244)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: WT1
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: ANIRIDIA 1 (OMIM:106210)
Gene: WT1
Phenotype: Hypoplasia of the fovea (HP:0007750)
Associated disease: ANIRIDIA 1 (OMIM:106210)
Gene: WT1
Phenotype: Neoplasm of the liver (HP:0002896)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: WT1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Del(11)(p13); Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome; WAGR syndrome; Monosomy 11p13; Deletion 11p13 (ORPHA:893)
Gene: WT1
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: DSRCT; Desmoplastic small round cell tumor (ORPHA:83469)
Gene: WT1
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Del(11)(p13); Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome; WAGR syndrome; Monosomy 11p13; Deletion 11p13 (ORPHA:893)
Gene: WT1
Phenotype: Hydrometrocolpos (HP:0030010)
Associated disease: Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome; Meacham syndrome; Meacham-Winn-Culler syndrome (ORPHA:3097)
Gene: WT1
Phenotype: Hemihypertrophy (HP:0001528)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: WT1
Phenotype: Death in infancy (HP:0001522)
Associated disease: MEACHAM SYNDROME (OMIM:608978)
Gene: WT1
Phenotype: Ascites (HP:0001541)
Associated disease: DSRCT; Desmoplastic small round cell tumor (ORPHA:83469)
Gene: WT1
Phenotype: Obesity (HP:0001513)
Associated disease: WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:194072)
Gene: WT1
Phenotype: Obesity (HP:0001513)
Associated disease: Del(11)(p13); Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome; WAGR syndrome; Monosomy 11p13; Deletion 11p13 (ORPHA:893)
Gene: WT1
Phenotype: Foamy urine (HP:0031504)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: WT1
Phenotype: Abdominal mass (HP:0031500)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: WT1
Phenotype: Abnormal fallopian tube morphology (HP:0011027)
Associated disease: Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome; Meacham syndrome; Meacham-Winn-Culler syndrome (ORPHA:3097)
Gene: WT1
Phenotype: Microscopic hematuria (HP:0002907)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: WT1
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome; Meacham syndrome; Meacham-Winn-Culler syndrome (ORPHA:3097)
Gene: WT1
Phenotype: Hearing abnormality (HP:0000364)
Associated disease: Del(11)(p13); Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome; WAGR syndrome; Monosomy 11p13; Deletion 11p13 (ORPHA:893)
Gene: WT1
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: MEACHAM SYNDROME (OMIM:608978)
Gene: WT1
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome; Meacham syndrome; Meacham-Winn-Culler syndrome (ORPHA:3097)
Gene: WT1
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome; Meacham syndrome; Meacham-Winn-Culler syndrome (ORPHA:3097)
Gene: WT1
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: MEACHAM SYNDROME (OMIM:608978)
Gene: WT1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Del(11)(p13); Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome; WAGR syndrome; Monosomy 11p13; Deletion 11p13 (ORPHA:893)
Gene: WT1
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome; Meacham syndrome; Meacham-Winn-Culler syndrome (ORPHA:3097)
Gene: WT1
Phenotype: Dextrocardia (HP:0001651)
Associated disease: MEACHAM SYNDROME (OMIM:608978)
Gene: WT1
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: MEACHAM SYNDROME (OMIM:608978)
Gene: WT1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome; Meacham syndrome; Meacham-Winn-Culler syndrome (ORPHA:3097)
Gene: WT1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: MEACHAM SYNDROME (OMIM:608978)
Gene: WT1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome; Meacham syndrome; Meacham-Winn-Culler syndrome (ORPHA:3097)
Gene: WT1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: MEACHAM SYNDROME (OMIM:608978)
Gene: WT1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome; Meacham syndrome; Meacham-Winn-Culler syndrome (ORPHA:3097)
Gene: WT1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: MEACHAM SYNDROME (OMIM:608978)
Gene: WT1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome; Meacham syndrome; Meacham-Winn-Culler syndrome (ORPHA:3097)
Gene: WT1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: MEACHAM SYNDROME (OMIM:608978)
Gene: WT1
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: MEACHAM SYNDROME (OMIM:608978)
Gene: WT1
Phenotype: Conotruncal defect (HP:0001710)
Associated disease: Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome; Meacham syndrome; Meacham-Winn-Culler syndrome (ORPHA:3097)
Gene: WT1
Phenotype: Strabismus (HP:0000486)
Associated disease: ANIRIDIA 1 (OMIM:106210)
Gene: WT1
Phenotype: Accessory spleen (HP:0001747)
Associated disease: MEACHAM SYNDROME (OMIM:608978)
Gene: WT1
Phenotype: Abnormality of the spleen (HP:0001743)
Associated disease: Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome; Meacham syndrome; Meacham-Winn-Culler syndrome (ORPHA:3097)
Gene: WT1
Phenotype: Aplasia/Hypoplasia of the lungs (HP:0006703)
Associated disease: Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome; Meacham syndrome; Meacham-Winn-Culler syndrome (ORPHA:3097)
Gene: WT1
Phenotype: Cataract (HP:0000518)
Associated disease: Del(11)(p13); Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome; WAGR syndrome; Monosomy 11p13; Deletion 11p13 (ORPHA:893)
Gene: WT1
Phenotype: Cataract (HP:0000518)
Associated disease: ANIRIDIA 1 (OMIM:106210)
Gene: WT1
Phenotype: Aniridia (HP:0000526)
Associated disease: WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:194072)
Gene: WT1
Phenotype: Aniridia (HP:0000526)
Associated disease: ANIRIDIA 1 (OMIM:106210)
Gene: WT1
Phenotype: Aniridia (HP:0000526)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: WT1
Phenotype: Weight loss (HP:0001824)
Associated disease: DSRCT; Desmoplastic small round cell tumor (ORPHA:83469)
Gene: WT1
Phenotype: Weight loss (HP:0001824)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: WT1
Phenotype: Ptosis (HP:0000508)
Associated disease: ANIRIDIA 1 (OMIM:106210)
Gene: WT1
Phenotype: Ptosis (HP:0000508)
Associated disease: Del(11)(p13); Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome; WAGR syndrome; Monosomy 11p13; Deletion 11p13 (ORPHA:893)
Gene: WT1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Del(11)(p13); Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome; WAGR syndrome; Monosomy 11p13; Deletion 11p13 (ORPHA:893)
Gene: WT1
Phenotype: Glaucoma (HP:0000501)
Associated disease: ANIRIDIA 1 (OMIM:106210)
Gene: WT1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Del(11)(p13); Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome; WAGR syndrome; Monosomy 11p13; Deletion 11p13 (ORPHA:893)
Gene: WT1
Phenotype: Macroscopic hematuria (HP:0012587)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: WT1
Phenotype: Minimal change glomerulonephritis (HP:0012579)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: WT1
Phenotype: Exotropia (HP:0000577)
Associated disease: ANIRIDIA 1 (OMIM:106210)
Gene: XDH
Phenotype: Xanthinuria (HP:0010934)
Associated disease: XANTHINURIA, TYPE I (OMIM:278300)
Gene: XDH
Phenotype: Hyperxanthinemia (HP:0010933)
Associated disease: XANTHINURIA, TYPE I (OMIM:278300)
Gene: XDH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: XANTHINURIA, TYPE I (OMIM:278300)
Gene: XDH
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: XANTHINURIA, TYPE I (OMIM:278300)
Gene: XDH
Phenotype: Reduced circulating xanthine oxidase activity (HP:6000218)
Associated disease: XANTHINURIA, TYPE I (OMIM:278300)
Gene: XDH
Phenotype: Impaired renal uric acid clearance (HP:0004732)
Associated disease: XANTHINURIA, TYPE I (OMIM:278300)
Gene: XDH
Phenotype: Hypouricemia (HP:0003537)
Associated disease: XANTHINURIA, TYPE I (OMIM:278300)
Gene: XDH
Phenotype: Reduced xanthine dehydrogenase level (HP:0003534)
Associated disease: XANTHINURIA, TYPE I (OMIM:278300)
Gene: XDH
Phenotype: Xanthine nephrolithiasis (HP:0000804)
Associated disease: XANTHINURIA, TYPE I (OMIM:278300)
Gene: XDH
Phenotype: Myopathy (HP:0003198)
Associated disease: XANTHINURIA, TYPE I (OMIM:278300)
Gene: XDH
Phenotype: Pyelonephritis (HP:0012330)
Associated disease: XANTHINURIA, TYPE I (OMIM:278300)
Gene: XK
Phenotype: Seizure (HP:0001250)
Associated disease: MCLEOD SYNDROME (OMIM:300842)
Gene: XK
Phenotype: Dysarthria (HP:0001260)
Associated disease: MCLEOD SYNDROME (OMIM:300842)
Gene: XK
Phenotype: Personality disorder (HP:0012075)
Associated disease: MCLEOD SYNDROME (OMIM:300842)
Gene: XK
Phenotype: Areflexia of upper limbs (HP:0012046)
Associated disease: MCLEOD SYNDROME (OMIM:300842)
Gene: XK
Phenotype: Dystonia (HP:0001332)
Associated disease: MCLEOD SYNDROME (OMIM:300842)
Gene: XK
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MCLEOD SYNDROME (OMIM:300842)
Gene: XK
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: MCLEOD SYNDROME (OMIM:300842)
Gene: XK
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: MCLEOD SYNDROME (OMIM:300842)
Gene: XK
Phenotype: Chorea (HP:0002072)
Associated disease: MCLEOD SYNDROME (OMIM:300842)
Gene: XK
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: MCLEOD SYNDROME (OMIM:300842)
Gene: XK
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: MCLEOD SYNDROME (OMIM:300842)
Gene: XK
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: MCLEOD SYNDROME (OMIM:300842)
Gene: XK
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MCLEOD SYNDROME (OMIM:300842)
Gene: XK
Phenotype: Adult onset (HP:0003581)
Associated disease: MCLEOD SYNDROME (OMIM:300842)
Gene: XK
Phenotype: Motor axonal neuropathy (HP:0007002)
Associated disease: MCLEOD SYNDROME (OMIM:300842)
Gene: XK
Phenotype: Dyskinesia (HP:0100660)
Associated disease: MCLEOD SYNDROME (OMIM:300842)
Gene: XK
Phenotype: Reduced haptoglobin level (HP:0020181)
Associated disease: MCLEOD SYNDROME (OMIM:300842)
Gene: XK
Phenotype: Acanthocytosis (HP:0001927)
Associated disease: MCLEOD SYNDROME (OMIM:300842)
Gene: XK
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: MCLEOD SYNDROME (OMIM:300842)
Gene: XK
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: MCLEOD SYNDROME (OMIM:300842)
Gene: XK
Phenotype: Impaired vibration sensation at ankles (HP:0006938)
Associated disease: MCLEOD SYNDROME (OMIM:300842)
Gene: XK
Phenotype: Anxiety (HP:0000739)
Associated disease: MCLEOD SYNDROME (OMIM:300842)
Gene: XK
Phenotype: Depression (HP:0000716)
Associated disease: MCLEOD SYNDROME (OMIM:300842)
Gene: XK
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: MCLEOD SYNDROME (OMIM:300842)
Gene: XK
Phenotype: Myopathy (HP:0003198)
Associated disease: MCLEOD SYNDROME (OMIM:300842)
Gene: XK
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MCLEOD SYNDROME (OMIM:300842)
Gene: XK
Phenotype: Rhabdomyolysis (HP:0003201)
Associated disease: MCLEOD SYNDROME (OMIM:300842)
Gene: XK
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: MCLEOD SYNDROME (OMIM:300842)
Gene: XK
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: MCLEOD SYNDROME (OMIM:300842)
Gene: XK
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: MCLEOD SYNDROME (OMIM:300842)
Gene: XK
Phenotype: Splenomegaly (HP:0001744)
Associated disease: MCLEOD SYNDROME (OMIM:300842)
Gene: XPA
Phenotype: Mental deterioration (HP:0001268)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A (OMIM:278700)
Gene: XPA
Phenotype: Seizure (HP:0001250)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Ataxia (HP:0001251)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Ataxia (HP:0001251)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A (OMIM:278700)
Gene: XPA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A (OMIM:278700)
Gene: XPA
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A (OMIM:278700)
Gene: XPA
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A (OMIM:278700)
Gene: XPA
Phenotype: Spasticity (HP:0001257)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Spasticity (HP:0001257)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A (OMIM:278700)
Gene: XPA
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Neoplasm (HP:0002664)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A (OMIM:278700)
Gene: XPA
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Freckling (HP:0001480)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Flat nasal alae (HP:0010649)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Pterygium (HP:0001059)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A (OMIM:278700)
Gene: XPA
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Poikiloderma (HP:0001029)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A (OMIM:278700)
Gene: XPA
Phenotype: Poikiloderma (HP:0001029)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Developmental regression (HP:0002376)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Telangiectasia (HP:0001009)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A (OMIM:278700)
Gene: XPA
Phenotype: Telangiectasia (HP:0001009)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Thickened skin (HP:0001072)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Erythema (HP:0010783)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Ankyloblepharon (HP:0009755)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Neonatal onset (HP:0003623)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A (OMIM:278700)
Gene: XPA
Phenotype: Juvenile onset (HP:0003621)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A (OMIM:278700)
Gene: XPA
Phenotype: Intellectual disability, progressive (HP:0006887)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Photophobia (HP:0000613)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Fever (HP:0001945)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Entropion (HP:0000621)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A (OMIM:278700)
Gene: XPA
Phenotype: Entropion (HP:0000621)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Ectropion (HP:0000656)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A (OMIM:278700)
Gene: XPA
Phenotype: Ectropion (HP:0000656)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Short stature (HP:0004322)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A (OMIM:278700)
Gene: XPA
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Defective DNA repair after ultraviolet radiation damage (HP:0003079)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A (OMIM:278700)
Gene: XPA
Phenotype: Neoplasm of the eye (HP:0100012)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Macule (HP:0012733)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Papilloma (HP:0012740)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Verrucous epidermal nevus (HP:0034275)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A (OMIM:278700)
Gene: XPA
Phenotype: Craniofacial hyperostosis (HP:0004493)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A (OMIM:278700)
Gene: XPA
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Dry skin (HP:0000958)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Thin skin (HP:0000963)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Alopecia (HP:0001596)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Arthralgia (HP:0002829)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Microcephaly (HP:0000252)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Microcephaly (HP:0000252)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A (OMIM:278700)
Gene: XPA
Phenotype: Melanoma (HP:0002861)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A (OMIM:278700)
Gene: XPA
Phenotype: Melanoma (HP:0002861)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Fatigue (HP:0012378)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A (OMIM:278700)
Gene: XPA
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Blepharitis (HP:0000498)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: XPA
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A (OMIM:278700)
Gene: XPA
Phenotype: Strabismus (HP:0000486)
Associated disease: Xeroderma pigmentosum (ORPHA:910)