TaoMedAI/RareMedData huggingface dataset:
Gene: ERCC2
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Microcephaly (HP:0000252)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 2 (OMIM:610756)
Gene: ERCC2
Phenotype: Microcephaly (HP:0000252)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC2
Phenotype: Microcephaly (HP:0000252)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Microcephaly (HP:0000252)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D (OMIM:278730)
Gene: ERCC2
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC2
Phenotype: Melanoma (HP:0002861)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC2
Phenotype: Melanoma (HP:0002861)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D (OMIM:278730)
Gene: ERCC2
Phenotype: Melanoma (HP:0002861)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Death in infancy (HP:0001522)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC2
Phenotype: Death in infancy (HP:0001522)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Triangular mouth (HP:0000207)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Small for gestational age (HP:0001518)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 2 (OMIM:610756)
Gene: ERCC2
Phenotype: Small for gestational age (HP:0001518)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 2 (OMIM:610756)
Gene: ERCC2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC2
Phenotype: Growth delay (HP:0001510)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 2 (OMIM:610756)
Gene: ERCC2
Phenotype: Fatigue (HP:0012378)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Intestinal obstruction (HP:0005214)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Recurrent bronchopulmonary infections (HP:0006538)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Dysphonia (HP:0001618)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Thoracic kyphosis (HP:0002942)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 2 (OMIM:610756)
Gene: ERCC2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC2
Phenotype: Micrognathia (HP:0000347)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 2 (OMIM:610756)
Gene: ERCC2
Phenotype: Bird-like facies (HP:0000320)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Blepharitis (HP:0000498)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D (OMIM:278730)
Gene: ERCC2
Phenotype: Macrotia (HP:0000400)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Astigmatism (HP:0000483)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Strabismus (HP:0000486)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Strabismus (HP:0000486)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Strabismus (HP:0000486)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Microcornea (HP:0000482)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Microcornea (HP:0000482)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Keratitis (HP:0000491)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D (OMIM:278730)
Gene: ERCC2
Phenotype: Keratitis (HP:0000491)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Deeply set eye (HP:0000490)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 2 (OMIM:610756)
Gene: ERCC2
Phenotype: Retinopathy (HP:0000488)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC2
Phenotype: Small nail (HP:0001792)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Short neck (HP:0000470)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC2
Phenotype: Prominent nose (HP:0000448)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 2 (OMIM:610756)
Gene: ERCC2
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 2 (OMIM:610756)
Gene: ERCC2
Phenotype: Protruding ear (HP:0000411)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Protruding ear (HP:0000411)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC2
Phenotype: Squamous cell carcinoma of the skin (HP:0006739)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC2
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC2
Phenotype: Cataract (HP:0000518)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 2 (OMIM:610756)
Gene: ERCC2
Phenotype: Cataract (HP:0000518)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Cataract (HP:0000518)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Cataract (HP:0000518)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC2
Phenotype: Cataract (HP:0000518)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D (OMIM:278730)
Gene: ERCC2
Phenotype: Developmental cataract (HP:0000519)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 2 (OMIM:610756)
Gene: ERCC2
Phenotype: Developmental cataract (HP:0000519)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Conjunctival telangiectasia (HP:0000524)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 2 (OMIM:610756)
Gene: ERCC2
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D (OMIM:278730)
Gene: ERCC2
Phenotype: Visual impairment (HP:0000505)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC2
Phenotype: Split nail (HP:0001809)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Fragile nails (HP:0001808)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Fragile nails (HP:0001808)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Ridged nail (HP:0001807)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 2 (OMIM:610756)
Gene: ERCC2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D (OMIM:278730)
Gene: ERCC2
Phenotype: Esotropia (HP:0000565)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Talipes (HP:0001883)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC2
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Myopia (HP:0000545)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: EYA4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 10 (OMIM:601316)
Gene: EYA4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, DILATED, 1J (OMIM:605362)
Gene: EYA4
Phenotype: Abnormal cardiac ventricular function (HP:0030872)
Associated disease: Sensorineural deafness with dilated cardiomyopathy; Neurosensory deafness with dilated cardiomyopathy; Neurosensory hearing loss with dilated cardiomyopathy; Sensorineural hearing loss with dilated cardiomyopathy (ORPHA:217622)
Gene: EYA4
Phenotype: Abnormal left ventricular function (HP:0005162)
Associated disease: CARDIOMYOPATHY, DILATED, 1J (OMIM:605362)
Gene: EYA4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Sensorineural deafness with dilated cardiomyopathy; Neurosensory deafness with dilated cardiomyopathy; Neurosensory hearing loss with dilated cardiomyopathy; Sensorineural hearing loss with dilated cardiomyopathy (ORPHA:217622)
Gene: EYA4
Phenotype: Sudden death (HP:0001699)
Associated disease: CARDIOMYOPATHY, DILATED, 1J (OMIM:605362)
Gene: EYA4
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: CARDIOMYOPATHY, DILATED, 1J (OMIM:605362)
Gene: EYA4
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Sensorineural deafness with dilated cardiomyopathy; Neurosensory deafness with dilated cardiomyopathy; Neurosensory hearing loss with dilated cardiomyopathy; Sensorineural hearing loss with dilated cardiomyopathy (ORPHA:217622)
Gene: EYA4
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CARDIOMYOPATHY, DILATED, 1J (OMIM:605362)
Gene: EYA4
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Sensorineural deafness with dilated cardiomyopathy; Neurosensory deafness with dilated cardiomyopathy; Neurosensory hearing loss with dilated cardiomyopathy; Sensorineural hearing loss with dilated cardiomyopathy (ORPHA:217622)
Gene: EYA4
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: CARDIOMYOPATHY, DILATED, 1J (OMIM:605362)
Gene: EYA4
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 10 (OMIM:601316)
Gene: EYA4
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CARDIOMYOPATHY, DILATED, 1J (OMIM:605362)
Gene: EYA4
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: Sensorineural deafness with dilated cardiomyopathy; Neurosensory deafness with dilated cardiomyopathy; Neurosensory hearing loss with dilated cardiomyopathy; Sensorineural hearing loss with dilated cardiomyopathy (ORPHA:217622)
Gene: ERCC3
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Abnormality of prenatal development or birth (HP:0001197)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Hypoplasia of mandible relative to maxilla (HP:0410219)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Cerebral dysmyelination (HP:0007266)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Hypertonia (HP:0001276)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B (OMIM:610651)
Gene: ERCC3
Phenotype: Confusion (HP:0001289)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC3
Phenotype: Seizure (HP:0001250)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Ataxia (HP:0001251)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B (OMIM:610651)
Gene: ERCC3
Phenotype: Ataxia (HP:0001251)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Ataxia (HP:0001251)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE (OMIM:616390)
Gene: ERCC3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B (OMIM:610651)
Gene: ERCC3
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Dysarthria (HP:0001260)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Dysarthria (HP:0001260)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC3
Phenotype: Spasticity (HP:0001257)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Spasticity (HP:0001257)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Spasticity (HP:0001257)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC3
Phenotype: Low-set nipples (HP:0002562)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Congenital exfoliative erythroderma (HP:0007381)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Clubbing (HP:0001217)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Cutaneous melanoma (HP:0012056)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B (OMIM:610651)
Gene: ERCC3
Phenotype: Joint dislocation (HP:0001373)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B (OMIM:610651)
Gene: ERCC3
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC3
Phenotype: Absence of subcutaneous fat (HP:0007485)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Congenital nonbullous ichthyosiform erythroderma (HP:0007479)
Associated disease: TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE (OMIM:616390)
Gene: ERCC3
Phenotype: Neoplasm (HP:0002664)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B (OMIM:610651)
Gene: ERCC3
Phenotype: Neoplasm (HP:0002664)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC3
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B (OMIM:610651)
Gene: ERCC3
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE (OMIM:616390)
Gene: ERCC3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B (OMIM:610651)
Gene: ERCC3
Phenotype: Arteriosclerosis (HP:0002634)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC3
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Hypogonadism (HP:0000135)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B (OMIM:610651)
Gene: ERCC3
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Freckling (HP:0001480)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B (OMIM:610651)
Gene: ERCC3
Phenotype: Freckling (HP:0001480)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Bilateral microphthalmos (HP:0007633)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Numerous pigmented freckles (HP:0007587)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC3
Phenotype: Numerous pigmented freckles (HP:0007587)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Gonadal dysgenesis (HP:0000133)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Intention tremor (HP:0002080)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B (OMIM:610651)
Gene: ERCC3
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B (OMIM:610651)
Gene: ERCC3
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Paraplegia/paraparesis (HP:0010551)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Congenital onset (HP:0003577)
Associated disease: TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE (OMIM:616390)
Gene: ERCC3
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Coarse hair (HP:0002208)
Associated disease: TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE (OMIM:616390)
Gene: ERCC3
Phenotype: Brittle hair (HP:0002299)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Alopecia of scalp (HP:0002293)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Generalized hyperreflexia (HP:0007034)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Flat nasal alae (HP:0010649)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Dystrophic fingernails (HP:0008391)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Aplasia/Hypoplasia of the nails (HP:0008386)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Pterygium (HP:0001059)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: Xeroderma pigmentosum (ORPHA:910)