TaoMedAI/RareMedData huggingface dataset:
Gene: ERCC8
Phenotype: Freckling (HP:0001480)
Associated disease: UV-SENSITIVE SYNDROME 2 (OMIM:614621)
Gene: ERCC8
Phenotype: Hypoplasia of the primary teeth (HP:0006334)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Hypoplasia of the primary teeth (HP:0006334)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC8
Phenotype: Widely spaced primary teeth (HP:0006313)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Widely spaced primary teeth (HP:0006313)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC8
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC8
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC8
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Thymic hormone decreased (HP:0003357)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Diarrhea (HP:0002014)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Intention tremor (HP:0002080)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC8
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Abnormal circulating porphyrin concentration (HP:0010472)
Associated disease: UV-SENSITIVE SYNDROME 2 (OMIM:614621)
Gene: ERCC8
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Peripheral dysmyelination (HP:0003469)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Postural instability (HP:0002172)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Postural instability (HP:0002172)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC8
Phenotype: Infantile onset (HP:0003593)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Infantile onset (HP:0003593)
Associated disease: UV-SENSITIVE SYNDROME 2 (OMIM:614621)
Gene: ERCC8
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC8
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Foot joint contracture (HP:0008366)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Severe short stature (HP:0003510)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC8
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Normal pressure hydrocephalus (HP:0002343)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Scarring (HP:0100699)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Scarring (HP:0100699)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC8
Phenotype: Demyelinating peripheral neuropathy (HP:0007108)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Vascular calcification (HP:0004934)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Nystagmus (HP:0000639)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC8
Phenotype: Decreased lacrimation (HP:0000633)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Decreased lacrimation (HP:0000633)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Optic atrophy (HP:0000648)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Photophobia (HP:0000613)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Photophobia (HP:0000613)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Photophobia (HP:0000613)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC8
Phenotype: Anemia (HP:0001903)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Dry hair (HP:0011359)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Dry hair (HP:0011359)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Delayed eruption of primary teeth (HP:0000680)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Delayed eruption of primary teeth (HP:0000680)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Delayed eruption of primary teeth (HP:0000680)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC8
Phenotype: Anodontia (HP:0000674)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Anodontia (HP:0000674)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC8
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Hypoplasia of teeth (HP:0000685)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Carious teeth (HP:0000670)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Carious teeth (HP:0000670)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC8
Phenotype: Short stature (HP:0004322)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Abnormal auditory evoked potentials (HP:0006958)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Abnormality of temperature regulation (HP:0004370)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Dementia (HP:0000726)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Fetal onset (HP:0011461)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC8
Phenotype: Cerebral white matter atrophy (HP:0012762)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Subdural hemorrhage (HP:0100309)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Abnormality of peripheral nerve conduction (HP:0003134)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Abnormality of peripheral nerve conduction (HP:0003134)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Absent brainstem auditory responses (HP:0004463)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Abnormal peripheral myelination (HP:0003130)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Increased blood urea nitrogen (HP:0003138)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Lentiglobus (HP:0011527)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Irregular menstruation (HP:0000858)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Hypertension (HP:0000822)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Hypertension (HP:0000822)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Ivory epiphyses of the phalanges of the hand (HP:0010234)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Increased cellular sensitivity to UV light (HP:0003224)
Associated disease: UV-SENSITIVE SYNDROME 2 (OMIM:614621)
Gene: ERCC8
Phenotype: Increased cellular sensitivity to UV light (HP:0003224)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Joint contracture (HP:0034392)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Square pelvis bone (HP:0003278)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Hip contracture (HP:0003273)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: UV-SENSITIVE SYNDROME 2 (OMIM:614621)
Gene: ERCC8
Phenotype: Atypical scarring of skin (HP:0000987)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Dry skin (HP:0000958)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Anhidrosis (HP:0000970)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Sparse hair (HP:0008070)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Arrhythmia (HP:0011675)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Loss of facial adipose tissue (HP:0000292)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Long face (HP:0000276)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Long face (HP:0000276)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC8
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Kyphosis (HP:0002808)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Kyphosis (HP:0002808)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC8
Phenotype: Kyphosis (HP:0002808)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Microcephaly (HP:0000252)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Mild postnatal growth retardation (HP:0001530)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Hypoplastic iliac wing (HP:0002866)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Failure to thrive (HP:0001508)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC8
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Retinal pigment epithelial mottling (HP:0007814)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Premature coronary artery atherosclerosis (HP:0005181)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC8
Phenotype: Short chin (HP:0000331)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Short chin (HP:0000331)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Short chin (HP:0000331)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC8
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC8
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Progeroid facial appearance (HP:0005328)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Progeroid facial appearance (HP:0005328)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC8
Phenotype: Progeroid facial appearance (HP:0005328)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Macrotia (HP:0000400)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Macrotia (HP:0000400)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Macrotia (HP:0000400)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC8
Phenotype: Strabismus (HP:0000486)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Strabismus (HP:0000486)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Strabismus (HP:0000486)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Strabismus (HP:0000486)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC8
Phenotype: Microcornea (HP:0000482)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Deeply set eye (HP:0000490)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Narrow nose (HP:0000460)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Abnormal myelination (HP:0012447)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Prominent nose (HP:0000448)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Slender nose (HP:0000417)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Splenomegaly (HP:0001744)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Cataract (HP:0000518)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Cataract (HP:0000518)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Cataract (HP:0000518)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Developmental cataract (HP:0000519)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC8
Phenotype: Anophthalmia (HP:0000528)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Anophthalmia (HP:0000528)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC8
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC8
Phenotype: Visual impairment (HP:0000505)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Visual impairment (HP:0000505)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC8
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Uveitis (HP:0000554)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Uveitis (HP:0000554)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC8
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)