TaoMedAI/RareMedData huggingface dataset:
Gene: ERCC4
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Freckling (HP:0001480)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F (OMIM:278760)
Gene: ERCC4
Phenotype: Freckling (HP:0001480)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Hypoplasia of the primary teeth (HP:0006334)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Widely spaced primary teeth (HP:0006313)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Seborrheic keratosis (HP:0031287)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F (OMIM:278760)
Gene: ERCC4
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: XFE PROGEROID SYNDROME (OMIM:610965)
Gene: ERCC4
Phenotype: Aplasia/Hypoplasia of fingers (HP:0006265)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Numerous pigmented freckles (HP:0007587)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F (OMIM:278760)
Gene: ERCC4
Phenotype: Numerous pigmented freckles (HP:0007587)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC4
Phenotype: Abnormality of the uterus (HP:0000130)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Anal atresia (HP:0002023)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Esophageal atresia (HP:0002032)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP Q (OMIM:615272)
Gene: ERCC4
Phenotype: Diarrhea (HP:0002014)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F (OMIM:278760)
Gene: ERCC4
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Abnormal localization of kidney (HP:0100542)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Primum atrial septal defect (HP:0010445)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP Q (OMIM:615272)
Gene: ERCC4
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Abnormal preputium morphology (HP:0100587)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Biliary atresia (HP:0005912)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP Q (OMIM:615272)
Gene: ERCC4
Phenotype: Absent testis (HP:0010469)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: XFE PROGEROID SYNDROME (OMIM:610965)
Gene: ERCC4
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Postural instability (HP:0002172)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: XFE PROGEROID SYNDROME (OMIM:610965)
Gene: ERCC4
Phenotype: Meckel diverticulum (HP:0002245)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Congenital onset (HP:0003577)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP Q (OMIM:615272)
Gene: ERCC4
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Clubbing of toes (HP:0100760)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Foot joint contracture (HP:0008366)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Flat nasal alae (HP:0010649)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Severe short stature (HP:0003510)
Associated disease: XFE PROGEROID SYNDROME (OMIM:610965)
Gene: ERCC4
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Pterygium (HP:0001059)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Poikiloderma (HP:0001029)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC4
Phenotype: Poikiloderma (HP:0001029)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Developmental regression (HP:0002376)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Poor coordination (HP:0002370)
Associated disease: XFE PROGEROID SYNDROME (OMIM:610965)
Gene: ERCC4
Phenotype: Telangiectasia (HP:0001009)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Urticaria (HP:0001025)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC4
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Papule (HP:0200034)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F (OMIM:278760)
Gene: ERCC4
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Thickened skin (HP:0001072)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Erythema (HP:0010783)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F (OMIM:278760)
Gene: ERCC4
Phenotype: Erythema (HP:0010783)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Scarring (HP:0100699)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Absent thumb (HP:0009777)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP Q (OMIM:615272)
Gene: ERCC4
Phenotype: Demyelinating peripheral neuropathy (HP:0007108)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC4
Phenotype: Ankyloblepharon (HP:0009755)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F (OMIM:278760)
Gene: ERCC4
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP Q (OMIM:615272)
Gene: ERCC4
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Pyridoxine-responsive sideroblastic anemia (HP:0005522)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Intellectual disability, progressive (HP:0006887)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Nystagmus (HP:0000639)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Nystagmus (HP:0000639)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F (OMIM:278760)
Gene: ERCC4
Phenotype: Nystagmus (HP:0000639)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC4
Phenotype: Decreased lacrimation (HP:0000633)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Diplopia (HP:0000651)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC4
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Optic atrophy (HP:0000648)
Associated disease: XFE PROGEROID SYNDROME (OMIM:610965)
Gene: ERCC4
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Optic atrophy (HP:0000648)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC4
Phenotype: Blindness (HP:0000618)
Associated disease: XFE PROGEROID SYNDROME (OMIM:610965)
Gene: ERCC4
Phenotype: Photophobia (HP:0000613)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Photophobia (HP:0000613)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Fever (HP:0001945)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Entropion (HP:0000621)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Anemia (HP:0001903)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Anemia (HP:0001903)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Delayed eruption of primary teeth (HP:0000680)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Anodontia (HP:0000674)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Ectropion (HP:0000656)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Abnormal nervous system morphology (HP:0012639)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Decreased body weight (HP:0004325)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F (OMIM:278760)
Gene: ERCC4
Phenotype: Short stature (HP:0004322)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP Q (OMIM:615272)
Gene: ERCC4
Phenotype: Short stature (HP:0004322)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Short stature (HP:0004322)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC4
Phenotype: Short stature (HP:0004322)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Short stature (HP:0004322)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F (OMIM:278760)
Gene: ERCC4
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC4
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: XFE PROGEROID SYNDROME (OMIM:610965)
Gene: ERCC4
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Cachexia (HP:0004326)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC4
Phenotype: Cachexia (HP:0004326)
Associated disease: XFE PROGEROID SYNDROME (OMIM:610965)
Gene: ERCC4
Phenotype: Defective DNA repair after ultraviolet radiation damage (HP:0003079)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F (OMIM:278760)
Gene: ERCC4
Phenotype: Defective DNA repair after ultraviolet radiation damage (HP:0003079)
Associated disease: XFE PROGEROID SYNDROME (OMIM:610965)
Gene: ERCC4
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: XFE PROGEROID SYNDROME (OMIM:610965)
Gene: ERCC4
Phenotype: Abnormality of temperature regulation (HP:0004370)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Abnormality of amino acid metabolism (HP:0004337)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC4
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Neoplasm of the eye (HP:0100012)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Macule (HP:0012733)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Papilloma (HP:0012740)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Arteriovenous malformation (HP:0100026)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Dementia (HP:0000726)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F (OMIM:278760)
Gene: ERCC4
Phenotype: Childhood onset (HP:0011463)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F (OMIM:278760)
Gene: ERCC4
Phenotype: Death in adolescence (HP:0011421)
Associated disease: XFE PROGEROID SYNDROME (OMIM:610965)
Gene: ERCC4
Phenotype: Craniofacial hyperostosis (HP:0004493)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Abnormality of peripheral nerve conduction (HP:0003134)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Absent brainstem auditory responses (HP:0004463)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Increased blood urea nitrogen (HP:0003138)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Bicornuate uterus (HP:0000813)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Hypertension (HP:0000822)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Hypertension (HP:0000822)
Associated disease: XFE PROGEROID SYNDROME (OMIM:610965)
Gene: ERCC4
Phenotype: Aplasia/Hypoplasia of the uvula (HP:0010293)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Chromosome breakage (HP:0040012)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP Q (OMIM:615272)
Gene: ERCC4
Phenotype: Abnormal morphology of ulna (HP:0040071)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Deficient excision of UV-induced pyrimidine dimers in DNA (HP:0003213)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F (OMIM:278760)
Gene: ERCC4
Phenotype: Abnormality of chromosome stability (HP:0003220)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F (OMIM:278760)
Gene: ERCC4
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC4
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: XFE PROGEROID SYNDROME (OMIM:610965)
Gene: ERCC4
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Skin rash (HP:0000988)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC4
Phenotype: Dry skin (HP:0000958)
Associated disease: XFE PROGEROID SYNDROME (OMIM:610965)
Gene: ERCC4
Phenotype: Dry skin (HP:0000958)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Dry skin (HP:0000958)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC4
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Thin skin (HP:0000963)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F (OMIM:278760)
Gene: ERCC4
Phenotype: Aplasia/Hypoplasia of the iris (HP:0008053)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Epicanthus (HP:0000286)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Alopecia (HP:0001596)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Narrow face (HP:0000275)
Associated disease: XFE PROGEROID SYNDROME (OMIM:610965)
Gene: ERCC4
Phenotype: Long face (HP:0000276)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Abnormality of the upper limb (HP:0002817)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Arthralgia (HP:0002829)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Abnormal femur morphology (HP:0002823)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC4
Phenotype: Microcephaly (HP:0000252)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP Q (OMIM:615272)
Gene: ERCC4
Phenotype: Microcephaly (HP:0000252)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Microcephaly (HP:0000252)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC4
Phenotype: Microcephaly (HP:0000252)
Associated disease: XFE PROGEROID SYNDROME (OMIM:610965)
Gene: ERCC4
Phenotype: Microcephaly (HP:0000252)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Microcephaly (HP:0000252)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F (OMIM:278760)
Gene: ERCC4
Phenotype: Abnormal renal morphology (HP:0012210)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: High palate (HP:0000218)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP Q (OMIM:615272)
Gene: ERCC4
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Melanoma (HP:0002861)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC4
Phenotype: Melanoma (HP:0002861)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F (OMIM:278760)
Gene: ERCC4
Phenotype: Ascites (HP:0001541)
Associated disease: XFE PROGEROID SYNDROME (OMIM:610965)
Gene: ERCC4
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Failure to thrive (HP:0001508)
Associated disease: XFE PROGEROID SYNDROME (OMIM:610965)
Gene: ERCC4
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Growth delay (HP:0001510)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP Q (OMIM:615272)
Gene: ERCC4
Phenotype: Growth delay (HP:0001510)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: XFE PROGEROID SYNDROME (OMIM:610965)
Gene: ERCC4
Phenotype: Aplasia/Hypoplasia of the radius (HP:0006501)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Fatigue (HP:0012378)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC4
Phenotype: Keratoacanthoma (HP:0031525)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F (OMIM:278760)
Gene: ERCC4
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: ERCC4
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC4
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: XFE PROGEROID SYNDROME (OMIM:610965)
Gene: ERCC4
Phenotype: Premature loss of teeth (HP:0006480)
Associated disease: XFE PROGEROID SYNDROME (OMIM:610965)
Gene: ERCC4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)