TaoMedAI/RareMedData huggingface dataset:
Gene: ERCC6
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
Gene: ERCC6
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Gliosis (HP:0002171)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Postural instability (HP:0002172)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Postural instability (HP:0002172)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC6
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC6
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: PREMATURE OVARIAN FAILURE 11 (OMIM:616946)
Gene: ERCC6
Phenotype: Infantile onset (HP:0003593)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Infantile onset (HP:0003593)
Associated disease: UV-SENSITIVE SYNDROME 1 (OMIM:600630)
Gene: ERCC6
Phenotype: Congenital onset (HP:0003577)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Congenital onset (HP:0003577)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC6
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
Gene: ERCC6
Phenotype: Foot joint contracture (HP:0008366)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Bilateral coxa valga (HP:0010665)
Associated disease: DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
Gene: ERCC6
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Severe short stature (HP:0003510)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Severe short stature (HP:0003510)
Associated disease: DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
Gene: ERCC6
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC6
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
Gene: ERCC6
Phenotype: Parakeratosis (HP:0001036)
Associated disease: DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
Gene: ERCC6
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Poikiloderma (HP:0001029)
Associated disease: DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
Gene: ERCC6
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Normal pressure hydrocephalus (HP:0002343)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Telangiectasia (HP:0001009)
Associated disease: UV-SENSITIVE SYNDROME 1 (OMIM:600630)
Gene: ERCC6
Phenotype: Telangiectasia (HP:0001009)
Associated disease: DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
Gene: ERCC6
Phenotype: Hirsutism (HP:0001007)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
Gene: ERCC6
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC6
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Scarring (HP:0100699)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Scarring (HP:0100699)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC6
Phenotype: Demyelinating peripheral neuropathy (HP:0007108)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Vascular calcification (HP:0004934)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Nystagmus (HP:0000639)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC6
Phenotype: Nystagmus (HP:0000639)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Decreased lacrimation (HP:0000633)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Decreased lacrimation (HP:0000633)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Optic atrophy (HP:0000648)
Associated disease: DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
Gene: ERCC6
Phenotype: Optic atrophy (HP:0000648)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC6
Phenotype: Miosis (HP:0000616)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Photophobia (HP:0000613)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Photophobia (HP:0000613)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Photophobia (HP:0000613)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC6
Phenotype: Dehydration (HP:0001944)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Entropion (HP:0000621)
Associated disease: DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
Gene: ERCC6
Phenotype: Anemia (HP:0001903)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Dry hair (HP:0011359)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Dry hair (HP:0011359)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC6
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Delayed eruption of primary teeth (HP:0000680)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Delayed eruption of primary teeth (HP:0000680)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Delayed eruption of primary teeth (HP:0000680)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC6
Phenotype: Anodontia (HP:0000674)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Anodontia (HP:0000674)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC6
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Hypoplasia of teeth (HP:0000685)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Ectropion (HP:0000656)
Associated disease: DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
Gene: ERCC6
Phenotype: Carious teeth (HP:0000670)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Carious teeth (HP:0000670)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Carious teeth (HP:0000670)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC6
Phenotype: Short stature (HP:0004322)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC6
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
Gene: ERCC6
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Abnormal auditory evoked potentials (HP:0006958)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Defective DNA repair after ultraviolet radiation damage (HP:0003079)
Associated disease: DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
Gene: ERCC6
Phenotype: Abnormality of temperature regulation (HP:0004370)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: UV-SENSITIVE SYNDROME 1 (OMIM:600630)
Gene: ERCC6
Phenotype: Childhood onset (HP:0011463)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Childhood onset (HP:0011463)
Associated disease: DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
Gene: ERCC6
Phenotype: Young adult onset (HP:0011462)
Associated disease: PREMATURE OVARIAN FAILURE 11 (OMIM:616946)
Gene: ERCC6
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC6
Phenotype: Cerebral white matter atrophy (HP:0012762)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Subdural hemorrhage (HP:0100309)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Abnormality of peripheral nerve conduction (HP:0003134)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Abnormality of peripheral nerve conduction (HP:0003134)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Absent brainstem auditory responses (HP:0004463)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Abnormal peripheral myelination (HP:0003130)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Increased blood urea nitrogen (HP:0003138)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: PREMATURE OVARIAN FAILURE 11 (OMIM:616946)
Gene: ERCC6
Phenotype: Lentiglobus (HP:0011527)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Insulin resistance (HP:0000855)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: PREMATURE OVARIAN FAILURE 11 (OMIM:616946)
Gene: ERCC6
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Hypertension (HP:0000822)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Hypertension (HP:0000822)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Ivory epiphyses of the phalanges of the hand (HP:0010234)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Axonal degeneration (HP:0040078)
Associated disease: DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
Gene: ERCC6
Phenotype: Increased cellular sensitivity to UV light (HP:0003224)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Increased cellular sensitivity to UV light (HP:0003224)
Associated disease: UV-SENSITIVE SYNDROME 1 (OMIM:600630)
Gene: ERCC6
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Square pelvis bone (HP:0003278)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: UV-SENSITIVE SYNDROME 1 (OMIM:600630)
Gene: ERCC6
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC6
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
Gene: ERCC6
Phenotype: Atypical scarring of skin (HP:0000987)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Dry skin (HP:0000958)
Associated disease: UV-SENSITIVE SYNDROME 1 (OMIM:600630)
Gene: ERCC6
Phenotype: Dry skin (HP:0000958)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Anhidrosis (HP:0000970)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Osteoporosis (HP:0000939)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Osteoporosis (HP:0000939)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Sparse hair (HP:0008070)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Arrhythmia (HP:0011675)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC6
Phenotype: Loss of facial adipose tissue (HP:0000292)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Long face (HP:0000276)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Long face (HP:0000276)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC6
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Abnormal nasal morphology (HP:0005105)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC6
Phenotype: Lung adenocarcinoma (HP:0030078)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: ERCC6
Phenotype: Kyphosis (HP:0002808)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Kyphosis (HP:0002808)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC6
Phenotype: Kyphosis (HP:0002808)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC6
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Microcephaly (HP:0000252)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Microcephaly (HP:0000252)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC6
Phenotype: Microcephaly (HP:0000252)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Microcephaly (HP:0000252)
Associated disease: DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
Gene: ERCC6
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC6
Phenotype: Melanoma (HP:0002861)
Associated disease: DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
Gene: ERCC6
Phenotype: Mild postnatal growth retardation (HP:0001530)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Severe failure to thrive (HP:0001525)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Death in infancy (HP:0001522)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC6
Phenotype: Hypoplastic iliac wing (HP:0002866)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Failure to thrive (HP:0001508)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Small for gestational age (HP:0001518)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Small for gestational age (HP:0001518)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC6
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC6
Phenotype: Camptodactyly (HP:0012385)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Alveolar cell carcinoma (HP:0006519)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: ERCC6
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Premature coronary artery atherosclerosis (HP:0005181)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC6
Phenotype: Sloping forehead (HP:0000340)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Long philtrum (HP:0000343)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Micrognathia (HP:0000347)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC6
Phenotype: Micrognathia (HP:0000347)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Short chin (HP:0000331)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Short chin (HP:0000331)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)