TaoMedAI/RareMedData huggingface dataset:
Gene: ERCC4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: XFE PROGEROID SYNDROME (OMIM:610965)
Gene: ERCC4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F (OMIM:278760)
Gene: ERCC4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC4
Phenotype: Hearing abnormality (HP:0000364)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Low-set ears (HP:0000369)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP Q (OMIM:615272)
Gene: ERCC4
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: XFE PROGEROID SYNDROME (OMIM:610965)
Gene: ERCC4
Phenotype: Abnormal aortic morphology (HP:0001679)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Micrognathia (HP:0000347)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Abnormal aortic valve morphology (HP:0001646)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Aplasia/Hypoplasia involving the central nervous system (HP:0002977)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F (OMIM:278760)
Gene: ERCC4
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Short chin (HP:0000331)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Abnormally high-pitched voice (HP:0001620)
Associated disease: XFE PROGEROID SYNDROME (OMIM:610965)
Gene: ERCC4
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Blepharitis (HP:0000498)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Progeroid facial appearance (HP:0005328)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Abnormal carotid artery morphology (HP:0005344)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Macrotia (HP:0000400)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Astigmatism (HP:0000483)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F (OMIM:278760)
Gene: ERCC4
Phenotype: Astigmatism (HP:0000483)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Strabismus (HP:0000486)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Strabismus (HP:0000486)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Strabismus (HP:0000486)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Keratitis (HP:0000491)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Deeply set eye (HP:0000490)
Associated disease: XFE PROGEROID SYNDROME (OMIM:610965)
Gene: ERCC4
Phenotype: Deeply set eye (HP:0000490)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F (OMIM:278760)
Gene: ERCC4
Phenotype: Abnormal eyelid morphology (HP:0000492)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Retinopathy (HP:0000488)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC4
Phenotype: Brain atrophy (HP:0012444)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F (OMIM:278760)
Gene: ERCC4
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Pes planus (HP:0001763)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: XFE PROGEROID SYNDROME (OMIM:610965)
Gene: ERCC4
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Pes cavus (HP:0001761)
Associated disease: XFE PROGEROID SYNDROME (OMIM:610965)
Gene: ERCC4
Phenotype: Squamous cell carcinoma of the skin (HP:0006739)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC4
Phenotype: Cataract (HP:0000518)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Cataract (HP:0000518)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Cataract (HP:0000518)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Anophthalmia (HP:0000528)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Conjunctival telangiectasia (HP:0000524)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Proptosis (HP:0000520)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Weight loss (HP:0001824)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Ptosis (HP:0000508)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Visual impairment (HP:0000505)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Visual impairment (HP:0000505)
Associated disease: XFE PROGEROID SYNDROME (OMIM:610965)
Gene: ERCC4
Phenotype: Visual impairment (HP:0000505)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Corneal scarring (HP:0000559)
Associated disease: XFE PROGEROID SYNDROME (OMIM:610965)
Gene: ERCC4
Phenotype: Uveitis (HP:0000554)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Abnormality of blood and blood-forming tissues (HP:0001871)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC5
Phenotype: Posterior fossa cyst (HP:0007291)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 3 (OMIM:616570)
Gene: ERCC5
Phenotype: Hypertonia (HP:0001276)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC5
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 3 (OMIM:616570)
Gene: ERCC5
Phenotype: Confusion (HP:0001289)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC5
Phenotype: Seizure (HP:0001250)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC5
Phenotype: Seizure (HP:0001250)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Hypotonia (HP:0001252)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC5
Phenotype: Ataxia (HP:0001251)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G (OMIM:278780)
Gene: ERCC5
Phenotype: Ataxia (HP:0001251)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Ataxia (HP:0001251)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC5
Phenotype: Dysarthria (HP:0001260)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 3 (OMIM:616570)
Gene: ERCC5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G (OMIM:278780)
Gene: ERCC5
Phenotype: Spasticity (HP:0001257)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G (OMIM:278780)
Gene: ERCC5
Phenotype: Spasticity (HP:0001257)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Spasticity (HP:0001257)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC5
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC5
Phenotype: Abnormality of immune system physiology (HP:0010978)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC5
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC5
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC5
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC5
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC5
Phenotype: Neoplasm (HP:0002664)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 3 (OMIM:616570)
Gene: ERCC5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G (OMIM:278780)
Gene: ERCC5
Phenotype: Tremor (HP:0001337)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G (OMIM:278780)
Gene: ERCC5
Phenotype: Arteriosclerosis (HP:0002634)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC5
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 3 (OMIM:616570)
Gene: ERCC5
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC5
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Cleft palate (HP:0000175)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 3 (OMIM:616570)
Gene: ERCC5
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC5
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Freckling (HP:0001480)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Numerous pigmented freckles (HP:0007587)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC5
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC5
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 3 (OMIM:616570)
Gene: ERCC5
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC5
Phenotype: Infantile onset (HP:0003593)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G (OMIM:278780)
Gene: ERCC5
Phenotype: Flat nasal alae (HP:0010649)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Pterygium (HP:0001059)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Poikiloderma (HP:0001029)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC5
Phenotype: Poikiloderma (HP:0001029)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Developmental regression (HP:0002376)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Telangiectasia (HP:0001009)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Urticaria (HP:0001025)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC5
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC5
Phenotype: Thickened skin (HP:0001072)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Erythema (HP:0010783)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Demyelinating peripheral neuropathy (HP:0007108)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC5
Phenotype: Ankyloblepharon (HP:0009755)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Neonatal onset (HP:0003623)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G (OMIM:278780)
Gene: ERCC5
Phenotype: Intellectual disability, progressive (HP:0006887)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Nystagmus (HP:0000639)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC5
Phenotype: Diplopia (HP:0000651)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC5
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC5
Phenotype: Optic atrophy (HP:0000648)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC5
Phenotype: Photophobia (HP:0000613)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Fever (HP:0001945)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Entropion (HP:0000621)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC5
Phenotype: Ectropion (HP:0000656)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Short stature (HP:0004322)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC5
Phenotype: Short stature (HP:0004322)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC5
Phenotype: Short stature (HP:0004322)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC5
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Cachexia (HP:0004326)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC5
Phenotype: Defective DNA repair after ultraviolet radiation damage (HP:0003079)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G (OMIM:278780)
Gene: ERCC5
Phenotype: Second trimester onset (HP:0034198)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 3 (OMIM:616570)
Gene: ERCC5
Phenotype: Abnormality of amino acid metabolism (HP:0004337)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC5
Phenotype: Neoplasm of the eye (HP:0100012)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Macule (HP:0012733)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Papilloma (HP:0012740)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Craniofacial hyperostosis (HP:0004493)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 3 (OMIM:616570)
Gene: ERCC5
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC5
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G (OMIM:278780)
Gene: ERCC5
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC5
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Skin rash (HP:0000988)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC5
Phenotype: Dry skin (HP:0000958)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Dry skin (HP:0000958)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC5
Phenotype: Edema (HP:0000969)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 3 (OMIM:616570)
Gene: ERCC5
Phenotype: Thin skin (HP:0000963)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC5
Phenotype: Alopecia (HP:0001596)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Abnormal nasal morphology (HP:0005105)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC5
Phenotype: Arthralgia (HP:0002829)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 3 (OMIM:616570)
Gene: ERCC5
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC5
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC5
Phenotype: Microcephaly (HP:0000252)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 3 (OMIM:616570)
Gene: ERCC5
Phenotype: Microcephaly (HP:0000252)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC5
Phenotype: Microcephaly (HP:0000252)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC5
Phenotype: Microcephaly (HP:0000252)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G (OMIM:278780)
Gene: ERCC5
Phenotype: Microcephaly (HP:0000252)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)