TaoMedAI/RareMedData huggingface dataset:
Gene: ERCC2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D (OMIM:278730)
Gene: ERCC2
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D (OMIM:278730)
Gene: ERCC2
Phenotype: Dysarthria (HP:0001260)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Dysarthria (HP:0001260)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 2 (OMIM:610756)
Gene: ERCC2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC2
Phenotype: Spasticity (HP:0001257)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Spasticity (HP:0001257)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Spasticity (HP:0001257)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC2
Phenotype: Spasticity (HP:0001257)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D (OMIM:278730)
Gene: ERCC2
Phenotype: Low-set nipples (HP:0002562)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Congenital exfoliative erythroderma (HP:0007381)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC2
Phenotype: Abnormality of immune system physiology (HP:0010978)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC2
Phenotype: Clubbing (HP:0001217)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC2
Phenotype: Death in childhood (HP:0003819)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 2 (OMIM:610756)
Gene: ERCC2
Phenotype: Small scrotum (HP:0000046)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 2 (OMIM:610756)
Gene: ERCC2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Joint dislocation (HP:0001373)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Micropenis (HP:0000054)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 2 (OMIM:610756)
Gene: ERCC2
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC2
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC2
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC2
Phenotype: Absence of subcutaneous fat (HP:0007485)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Absence of subcutaneous fat (HP:0007485)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Congenital nonbullous ichthyosiform erythroderma (HP:0007479)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Neoplasm (HP:0002664)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC2
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D (OMIM:278730)
Gene: ERCC2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 2 (OMIM:610756)
Gene: ERCC2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Arteriosclerosis (HP:0002634)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC2
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC2
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC2
Phenotype: Hypogonadism (HP:0000135)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Freckling (HP:0001480)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Freckling (HP:0001480)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Bilateral microphthalmos (HP:0007633)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Numerous pigmented freckles (HP:0007587)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC2
Phenotype: Numerous pigmented freckles (HP:0007587)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Gonadal dysgenesis (HP:0000133)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 2 (OMIM:610756)
Gene: ERCC2
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Recurrent infections (HP:0002719)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Malabsorption (HP:0002024)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Intention tremor (HP:0002080)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Asthma (HP:0002099)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 2 (OMIM:610756)
Gene: ERCC2
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC2
Phenotype: Paraplegia/paraparesis (HP:0010551)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Infantile onset (HP:0003593)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Congenital onset (HP:0003577)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 2 (OMIM:610756)
Gene: ERCC2
Phenotype: Fine hair (HP:0002213)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Brittle hair (HP:0002299)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Brittle hair (HP:0002299)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Alopecia of scalp (HP:0002293)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Generalized hyperreflexia (HP:0007034)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Flat nasal alae (HP:0010649)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Dystrophic fingernails (HP:0008391)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Aplasia/Hypoplasia of the nails (HP:0008386)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Pterygium (HP:0001059)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Poikiloderma (HP:0001029)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC2
Phenotype: Poikiloderma (HP:0001029)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D (OMIM:278730)
Gene: ERCC2
Phenotype: Poikiloderma (HP:0001029)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Developmental regression (HP:0002376)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Telangiectasia (HP:0001009)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Telangiectasia (HP:0001009)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D (OMIM:278730)
Gene: ERCC2
Phenotype: Telangiectasia (HP:0001009)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Urticaria (HP:0001025)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC2
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Erythroderma (HP:0001019)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC2
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D (OMIM:278730)
Gene: ERCC2
Phenotype: Thickened skin (HP:0001072)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Erythema (HP:0010783)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Demyelinating peripheral neuropathy (HP:0007108)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC2
Phenotype: Ankyloblepharon (HP:0009755)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Bronchoconstriction (HP:4000007)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Intellectual disability, progressive (HP:0006887)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Nystagmus (HP:0000639)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Nystagmus (HP:0000639)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC2
Phenotype: Diplopia (HP:0000651)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC2
Phenotype: Photophobia (HP:0000613)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Photophobia (HP:0000613)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Photophobia (HP:0000613)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Photophobia (HP:0000613)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D (OMIM:278730)
Gene: ERCC2
Phenotype: Fever (HP:0001945)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Entropion (HP:0000621)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D (OMIM:278730)
Gene: ERCC2
Phenotype: Entropion (HP:0000621)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Macular degeneration (HP:0000608)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Anemia (HP:0001903)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC2
Phenotype: Ectropion (HP:0000656)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Ectropion (HP:0000656)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D (OMIM:278730)
Gene: ERCC2
Phenotype: Ectropion (HP:0000656)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Carious teeth (HP:0000670)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Short stature (HP:0004322)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC2
Phenotype: Short stature (HP:0004322)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC2
Phenotype: Short stature (HP:0004322)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Short stature (HP:0004322)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC2
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D (OMIM:278730)
Gene: ERCC2
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Cachexia (HP:0004326)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC2
Phenotype: Periventricular leukomalacia (HP:0006970)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Defective DNA repair after ultraviolet radiation damage (HP:0003079)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Defective DNA repair after ultraviolet radiation damage (HP:0003079)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D (OMIM:278730)
Gene: ERCC2
Phenotype: Abnormality of amino acid metabolism (HP:0004337)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC2
Phenotype: Neoplasm of the eye (HP:0100012)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Macule (HP:0012733)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Papilloma (HP:0012740)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Corneal neovascularization (HP:0011496)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D (OMIM:278730)
Gene: ERCC2
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Short nose (HP:0003196)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Craniofacial hyperostosis (HP:0004493)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Panhypogammaglobulinemia (HP:0003139)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Tiger tail banding (HP:0045055)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Tiger tail banding (HP:0045055)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Diffuse cerebellar atrophy (HP:0100275)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 2 (OMIM:610756)
Gene: ERCC2
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC2
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC2
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D (OMIM:278730)
Gene: ERCC2
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Skin rash (HP:0000988)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC2
Phenotype: Dry skin (HP:0000958)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Dry skin (HP:0000958)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Dry skin (HP:0000958)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Dry skin (HP:0000958)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC2
Phenotype: Trichoschisis (HP:0034354)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Thin skin (HP:0000963)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Osteopenia (HP:0000938)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Sparse hair (HP:0008070)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 2 (OMIM:610756)
Gene: ERCC2
Phenotype: Sparse hair (HP:0008070)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC2
Phenotype: Epicanthus (HP:0000286)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Retrognathia (HP:0000278)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Retrognathia (HP:0000278)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Alopecia (HP:0001596)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Increased mean corpuscular hemoglobin concentration (HP:0025548)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Concave nail (HP:0001598)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Abnormal nasal morphology (HP:0005105)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC2
Phenotype: Arthralgia (HP:0002829)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: Trichothiodystrophy (ORPHA:33364)