TaoMedAI/RareMedData huggingface dataset:
Gene: ERCC5
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 3 (OMIM:616570)
Gene: ERCC5
Phenotype: Melanoma (HP:0002861)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC5
Phenotype: Melanoma (HP:0002861)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Death in infancy (HP:0001522)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC5
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Small for gestational age (HP:0001518)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G (OMIM:278780)
Gene: ERCC5
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 3 (OMIM:616570)
Gene: ERCC5
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC5
Phenotype: Growth delay (HP:0001510)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G (OMIM:278780)
Gene: ERCC5
Phenotype: Fatigue (HP:0012378)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Hearing impairment (HP:0000365)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC5
Phenotype: Low-set ears (HP:0000369)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 3 (OMIM:616570)
Gene: ERCC5
Phenotype: Micrognathia (HP:0000347)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 3 (OMIM:616570)
Gene: ERCC5
Phenotype: Micrognathia (HP:0000347)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC5
Phenotype: Blepharitis (HP:0000498)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC5
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Strabismus (HP:0000486)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Infantile spasms (HP:0012469)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G (OMIM:278780)
Gene: ERCC5
Phenotype: Keratitis (HP:0000491)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Retinopathy (HP:0000488)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC5
Phenotype: Short neck (HP:0000470)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC5
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 3 (OMIM:616570)
Gene: ERCC5
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC5
Phenotype: Pes cavus (HP:0001761)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G (OMIM:278780)
Gene: ERCC5
Phenotype: Squamous cell carcinoma of the skin (HP:0006739)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC5
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC5
Phenotype: Cataract (HP:0000518)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G (OMIM:278780)
Gene: ERCC5
Phenotype: Cataract (HP:0000518)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Cataract (HP:0000518)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC5
Phenotype: Conjunctival telangiectasia (HP:0000524)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC5
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 3 (OMIM:616570)
Gene: ERCC5
Phenotype: Visual impairment (HP:0000505)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC5
Phenotype: Microphthalmia (HP:0000568)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 3 (OMIM:616570)
Gene: ERCC5
Phenotype: Microphthalmia (HP:0000568)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G (OMIM:278780)
Gene: ERCC5
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC5
Phenotype: Talipes (HP:0001883)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC6
Phenotype: Cerebellar dentate nucleus calcification (HP:0002461)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Astrocytosis (HP:0002446)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Gonadal hypoplasia (HP:0008639)
Associated disease: DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
Gene: ERCC6
Phenotype: CNS demyelination (HP:0007305)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Adult onset sensorineural hearing impairment (HP:0008615)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Increased blood pressure (HP:0032263)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
Gene: ERCC6
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Stroke (HP:0001297)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Hypertonia (HP:0001276)
Associated disease: DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
Gene: ERCC6
Phenotype: Hypertonia (HP:0001276)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC6
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Mental deterioration (HP:0001268)
Associated disease: DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
Gene: ERCC6
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC6
Phenotype: Areflexia (HP:0001284)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Areflexia (HP:0001284)
Associated disease: DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
Gene: ERCC6
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Seizure (HP:0001250)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Seizure (HP:0001250)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC6
Phenotype: Seizure (HP:0001250)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Seizure (HP:0001250)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Seizure (HP:0001250)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Hypotonia (HP:0001252)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC6
Phenotype: Hypotonia (HP:0001252)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Hypotonia (HP:0001252)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Ataxia (HP:0001251)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Ataxia (HP:0001251)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Ataxia (HP:0001251)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC6
Phenotype: Ataxia (HP:0001251)
Associated disease: DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
Gene: ERCC6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
Gene: ERCC6
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
Gene: ERCC6
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
Gene: ERCC6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
Gene: ERCC6
Phenotype: Spasticity (HP:0001257)
Associated disease: DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
Gene: ERCC6
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC6
Phenotype: Cerebellar calcifications (HP:0007352)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Bilateral cryptorchidism (HP:0008689)
Associated disease: DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
Gene: ERCC6
Phenotype: Subcortical white matter calcifications (HP:0007346)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Subcortical white matter calcifications (HP:0007346)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Subcortical white matter calcifications (HP:0007346)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC6
Phenotype: Abnormality of immune system physiology (HP:0010978)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC6
Phenotype: Olivopontocerebellar atrophy (HP:0002542)
Associated disease: DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
Gene: ERCC6
Phenotype: Patchy demyelination of subcortical white matter (HP:0002545)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Patchy demyelination of subcortical white matter (HP:0002545)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC6
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC6
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC6
Phenotype: Diffuse cerebral atrophy (HP:0002506)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Death in childhood (HP:0003819)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Death in childhood (HP:0003819)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Proteinuria (HP:0000093)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Proteinuria (HP:0000093)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Hydroureter (HP:0000072)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC6
Phenotype: Flexion contracture (HP:0001371)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Micropenis (HP:0000054)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC6
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Urinary retention (HP:0000016)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Male hypogonadism (HP:0000026)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Male hypogonadism (HP:0000026)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC6
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC6
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC6
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC6
Phenotype: Hypoplastic pelvis (HP:0008839)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Neoplasm (HP:0002664)
Associated disease: UV-SENSITIVE SYNDROME 1 (OMIM:600630)
Gene: ERCC6
Phenotype: Muscle weakness (HP:0001324)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Coxa valga (HP:0002673)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
Gene: ERCC6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: UV-SENSITIVE SYNDROME 1 (OMIM:600630)
Gene: ERCC6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Tremor (HP:0001337)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Tremor (HP:0001337)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PREMATURE OVARIAN FAILURE 11 (OMIM:616946)
Gene: ERCC6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: ERCC6
Phenotype: Scoliosis (HP:0002650)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Scoliosis (HP:0002650)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Scoliosis (HP:0002650)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC6
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC6
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Decreased CSF 5-hydroxyindolacetic acid concentration (HP:0025455)
Associated disease: DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
Gene: ERCC6
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC6
Phenotype: Freckling (HP:0001480)
Associated disease: UV-SENSITIVE SYNDROME 1 (OMIM:600630)
Gene: ERCC6
Phenotype: Hypoplasia of the iris (HP:0007676)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Hypoplasia of the primary teeth (HP:0006334)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Hypoplasia of the primary teeth (HP:0006334)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC6
Phenotype: Widely spaced primary teeth (HP:0006313)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Widely spaced primary teeth (HP:0006313)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC6
Phenotype: Pigmentation anomalies of sun-exposed skin (HP:0007623)
Associated disease: UV-SENSITIVE SYNDROME 1 (OMIM:600630)
Gene: ERCC6
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC6
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC6
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: ERCC6
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Deep longitudinal plantar crease (HP:0004681)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Diarrhea (HP:0002014)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Intention tremor (HP:0002080)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
Gene: ERCC6
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC6
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
Gene: ERCC6
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Second metatarsal posteriorly placed (HP:0008125)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Equinovarus deformity (HP:0008110)
Associated disease: DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
Gene: ERCC6
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Peripheral dysmyelination (HP:0003469)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Babinski sign (HP:0003487)
Associated disease: DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
Gene: ERCC6
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC6
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
Gene: ERCC6
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)