TaoMedAI/RareMedData huggingface dataset:
Gene: ERCC3
Phenotype: Poikiloderma (HP:0001029)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC3
Phenotype: Poikiloderma (HP:0001029)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Developmental regression (HP:0002376)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Telangiectasia (HP:0001009)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Urticaria (HP:0001025)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC3
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Thickened skin (HP:0001072)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Erythema (HP:0010783)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Demyelinating peripheral neuropathy (HP:0007108)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC3
Phenotype: Ankyloblepharon (HP:0009755)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Bronchoconstriction (HP:4000007)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Intellectual disability, progressive (HP:0006887)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Nystagmus (HP:0000639)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Nystagmus (HP:0000639)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC3
Phenotype: Diplopia (HP:0000651)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC3
Phenotype: Optic atrophy (HP:0000648)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B (OMIM:610651)
Gene: ERCC3
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Optic atrophy (HP:0000648)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC3
Phenotype: Photophobia (HP:0000613)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Photophobia (HP:0000613)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Fever (HP:0001945)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Entropion (HP:0000621)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Macular degeneration (HP:0000608)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Anemia (HP:0001903)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Agenesis of maxillary lateral incisor (HP:0000690)
Associated disease: TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE (OMIM:616390)
Gene: ERCC3
Phenotype: Ectropion (HP:0000656)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Ectropion (HP:0000656)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Carious teeth (HP:0000670)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Short stature (HP:0004322)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC3
Phenotype: Short stature (HP:0004322)
Associated disease: TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE (OMIM:616390)
Gene: ERCC3
Phenotype: Short stature (HP:0004322)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B (OMIM:610651)
Gene: ERCC3
Phenotype: Short stature (HP:0004322)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC3
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B (OMIM:610651)
Gene: ERCC3
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Cachexia (HP:0004326)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC3
Phenotype: Periventricular leukomalacia (HP:0006970)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Defective DNA repair after ultraviolet radiation damage (HP:0003079)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Abnormality of amino acid metabolism (HP:0004337)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC3
Phenotype: Neoplasm of the eye (HP:0100012)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Abnormal CNS myelination (HP:0011400)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B (OMIM:610651)
Gene: ERCC3
Phenotype: Macule (HP:0012733)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Papilloma (HP:0012740)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B (OMIM:610651)
Gene: ERCC3
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Craniofacial hyperostosis (HP:0004493)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Panhypogammaglobulinemia (HP:0003139)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Increased cellular sensitivity to UV light (HP:0003224)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B (OMIM:610651)
Gene: ERCC3
Phenotype: Tiger tail banding (HP:0045055)
Associated disease: TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE (OMIM:616390)
Gene: ERCC3
Phenotype: Tiger tail banding (HP:0045055)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Diffuse cerebellar atrophy (HP:0100275)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B (OMIM:610651)
Gene: ERCC3
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC3
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE (OMIM:616390)
Gene: ERCC3
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Skin rash (HP:0000988)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC3
Phenotype: Dry skin (HP:0000958)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Dry skin (HP:0000958)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Dry skin (HP:0000958)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC3
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Thin skin (HP:0000963)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Osteopenia (HP:0000938)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Ichthyosis (HP:0008064)
Associated disease: TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE (OMIM:616390)
Gene: ERCC3
Phenotype: Epicanthus (HP:0000286)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Retrognathia (HP:0000278)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Alopecia (HP:0001596)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Increased mean corpuscular hemoglobin concentration (HP:0025548)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Concave nail (HP:0001598)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Arthralgia (HP:0002829)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC3
Phenotype: Microcephaly (HP:0000252)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Microcephaly (HP:0000252)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC3
Phenotype: Microcephaly (HP:0000252)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B (OMIM:610651)
Gene: ERCC3
Phenotype: Microcephaly (HP:0000252)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Melanoma (HP:0002861)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC3
Phenotype: Melanoma (HP:0002861)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Fatigue (HP:0012378)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Recurrent bronchopulmonary infections (HP:0006538)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Dysphonia (HP:0001618)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Thoracic kyphosis (HP:0002942)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC3
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Bird-like facies (HP:0000320)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Blepharitis (HP:0000498)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Progeroid facial appearance (HP:0005328)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B (OMIM:610651)
Gene: ERCC3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B (OMIM:610651)
Gene: ERCC3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Astigmatism (HP:0000483)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Strabismus (HP:0000486)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Strabismus (HP:0000486)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Microcornea (HP:0000482)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Keratitis (HP:0000491)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Retinopathy (HP:0000488)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC3
Phenotype: Protruding ear (HP:0000411)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Squamous cell carcinoma of the skin (HP:0006739)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B (OMIM:610651)
Gene: ERCC3
Phenotype: Squamous cell carcinoma of the skin (HP:0006739)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC3
Phenotype: Cataract (HP:0000518)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B (OMIM:610651)
Gene: ERCC3
Phenotype: Cataract (HP:0000518)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Developmental cataract (HP:0000519)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Conjunctival telangiectasia (HP:0000524)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC3
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Split nail (HP:0001809)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Fragile nails (HP:0001808)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Ridged nail (HP:0001807)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B (OMIM:610651)
Gene: ERCC3
Phenotype: Microphthalmia (HP:0000568)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B (OMIM:610651)
Gene: ERCC3
Phenotype: Esotropia (HP:0000565)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Myopia (HP:0000545)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC3
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC4
Phenotype: Abnormal thumb morphology (HP:0001172)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Spina bifida (HP:0002414)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Confusion (HP:0001289)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC4
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: XFE PROGEROID SYNDROME (OMIM:610965)
Gene: ERCC4
Phenotype: Seizure (HP:0001250)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Seizure (HP:0001250)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Hypotonia (HP:0001252)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Ataxia (HP:0001251)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Ataxia (HP:0001251)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Ataxia (HP:0001251)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F (OMIM:278760)
Gene: ERCC4
Phenotype: Ataxia (HP:0001251)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F (OMIM:278760)
Gene: ERCC4
Phenotype: Dysarthria (HP:0001260)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC4
Phenotype: Spasticity (HP:0001257)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Spasticity (HP:0001257)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC4
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Duodenal stenosis (HP:0100867)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: XFE PROGEROID SYNDROME (OMIM:610965)
Gene: ERCC4
Phenotype: Proteinuria (HP:0000093)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Proteinuria (HP:0000093)
Associated disease: XFE PROGEROID SYNDROME (OMIM:610965)
Gene: ERCC4
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Hydroureter (HP:0000072)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Decreased fertility in males (HP:0012041)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Flexion contracture (HP:0001371)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F (OMIM:278760)
Gene: ERCC4
Phenotype: Hypospadias (HP:0000047)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Abnormal testis morphology (HP:0000035)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Male hypogonadism (HP:0000026)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Azoospermia (HP:0000027)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: XFE PROGEROID SYNDROME (OMIM:610965)
Gene: ERCC4
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC4
Phenotype: Absence of subcutaneous fat (HP:0007485)
Associated disease: XFE PROGEROID SYNDROME (OMIM:610965)
Gene: ERCC4
Phenotype: Neoplasm (HP:0002664)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Neoplasm (HP:0002664)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC4
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F (OMIM:278760)
Gene: ERCC4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP Q (OMIM:615272)
Gene: ERCC4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: XFE PROGEROID SYNDROME (OMIM:610965)
Gene: ERCC4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F (OMIM:278760)
Gene: ERCC4
Phenotype: Tremor (HP:0001337)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Tremor (HP:0001337)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F (OMIM:278760)
Gene: ERCC4
Phenotype: Arteriosclerosis (HP:0002634)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC4
Phenotype: Scoliosis (HP:0002650)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Scoliosis (HP:0002650)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Scoliosis (HP:0002650)
Associated disease: XFE PROGEROID SYNDROME (OMIM:610965)
Gene: ERCC4
Phenotype: Scoliosis (HP:0002650)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F (OMIM:278760)
Gene: ERCC4
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Cleft palate (HP:0000175)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)