TaoMedAI/RareMedData huggingface dataset:
Gene: ERBB4
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ERBB4
Phenotype: Middle age onset (HP:0003596)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 19 (OMIM:615515)
Gene: ERBB4
Phenotype: Late onset (HP:0003584)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 19 (OMIM:615515)
Gene: ERBB4
Phenotype: Fasciculations (HP:0002380)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ERBB4
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ERBB4
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ERBB4
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ERBB4
Phenotype: Drooling (HP:0002307)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ERBB4
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ERBB4
Phenotype: Cachexia (HP:0004326)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ERBB4
Phenotype: Hoffmann sign (HP:0031993)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ERBB4
Phenotype: Anxiety (HP:0000739)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ERBB4
Phenotype: Depression (HP:0000716)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ERBB4
Phenotype: Emotional lability (HP:0000712)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ERBB4
Phenotype: Dementia (HP:0000726)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 19 (OMIM:615515)
Gene: ERBB4
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ERBB4
Phenotype: Orthopnea (HP:0012764)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ERBB4
Phenotype: Abnormality on pulmonary function testing (HP:0030878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ERBB4
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ERBB4
Phenotype: Xerostomia (HP:0000217)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ERBB4
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ERBB4
Phenotype: Fatigue (HP:0012378)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ERBB4
Phenotype: Dysphonia (HP:0001618)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ERBB4
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ERBB4
Phenotype: Fatigable weakness of swallowing muscles (HP:0030195)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ERBB4
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ERBB4
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ERBB4
Phenotype: Weight loss (HP:0001824)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ERBB4
Phenotype: Pain (HP:0012531)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ERCC1
Phenotype: Adducted thumb (HP:0001181)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
Gene: ERCC1
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
Gene: ERCC1
Phenotype: Hypertonia (HP:0001276)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
Gene: ERCC1
Phenotype: Hypertonia (HP:0001276)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC1
Phenotype: Seizure (HP:0001250)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC1
Phenotype: Ataxia (HP:0001251)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
Gene: ERCC1
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
Gene: ERCC1
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC1
Phenotype: Subcortical white matter calcifications (HP:0007346)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC1
Phenotype: Abnormality of immune system physiology (HP:0010978)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC1
Phenotype: Patchy demyelination of subcortical white matter (HP:0002545)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC1
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC1
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC1
Phenotype: Death in childhood (HP:0003819)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
Gene: ERCC1
Phenotype: Abnormality of the genital system (HP:0000078)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
Gene: ERCC1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC1
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC1
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
Gene: ERCC1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
Gene: ERCC1
Phenotype: Male hypogonadism (HP:0000026)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
Gene: ERCC1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
Gene: ERCC1
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC1
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC1
Phenotype: Hypoplasia of the primary teeth (HP:0006334)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC1
Phenotype: Widely spaced primary teeth (HP:0006313)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC1
Phenotype: Bilateral microphthalmos (HP:0007633)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
Gene: ERCC1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC1
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
Gene: ERCC1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC1
Phenotype: Steep acetabular roof (HP:0010455)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
Gene: ERCC1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC1
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
Gene: ERCC1
Phenotype: Postural instability (HP:0002172)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC1
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
Gene: ERCC1
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC1
Phenotype: Infantile onset (HP:0003593)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
Gene: ERCC1
Phenotype: Congenital onset (HP:0003577)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
Gene: ERCC1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC1
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
Gene: ERCC1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC1
Phenotype: Scarring (HP:0100699)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC1
Phenotype: Nystagmus (HP:0000639)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
Gene: ERCC1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC1
Phenotype: Photophobia (HP:0000613)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC1
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC1
Phenotype: Delayed eruption of primary teeth (HP:0000680)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC1
Phenotype: Anodontia (HP:0000674)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC1
Phenotype: Decreased body weight (HP:0004325)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
Gene: ERCC1
Phenotype: Short stature (HP:0004322)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC1
Phenotype: Short stature (HP:0004322)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
Gene: ERCC1
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
Gene: ERCC1
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
Gene: ERCC1
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC1
Phenotype: Slender long bone (HP:0003100)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
Gene: ERCC1
Phenotype: Abnormality of the vertebral column (HP:0000925)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
Gene: ERCC1
Phenotype: Flexion contracture of toe (HP:0005830)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
Gene: ERCC1
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC1
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC1
Phenotype: Long face (HP:0000276)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC1
Phenotype: Abnormal nasal morphology (HP:0005105)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
Gene: ERCC1
Phenotype: Kyphosis (HP:0002808)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC1
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
Gene: ERCC1
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC1
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
Gene: ERCC1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC1
Phenotype: Microcephaly (HP:0000252)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
Gene: ERCC1
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC1
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
Gene: ERCC1
Phenotype: Death in infancy (HP:0001522)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
Gene: ERCC1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
Gene: ERCC1
Phenotype: Low-set ears (HP:0000369)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
Gene: ERCC1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC1
Phenotype: Micrognathia (HP:0000347)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
Gene: ERCC1
Phenotype: Short chin (HP:0000331)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC1
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
Gene: ERCC1
Phenotype: Short philtrum (HP:0000322)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
Gene: ERCC1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
Gene: ERCC1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC1
Phenotype: Progeroid facial appearance (HP:0005328)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC1
Phenotype: Macrotia (HP:0000400)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC1
Phenotype: Strabismus (HP:0000486)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC1
Phenotype: Abnormal retinal morphology (HP:0000479)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
Gene: ERCC1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
Gene: ERCC1
Phenotype: Short neck (HP:0000470)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC1
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
Gene: ERCC1
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC1
Phenotype: Premature closure of fontanelles (HP:0005458)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
Gene: ERCC1
Phenotype: Cataract (HP:0000518)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC1
Phenotype: Developmental cataract (HP:0000519)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC1
Phenotype: Anophthalmia (HP:0000528)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC1
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
Gene: ERCC1
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC1
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
Gene: ERCC1
Phenotype: Uveitis (HP:0000554)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC1
Phenotype: Talipes (HP:0001883)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC2
Phenotype: Pili torti (HP:0003777)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Abnormality of prenatal development or birth (HP:0001197)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Hypoplasia of mandible relative to maxilla (HP:0410219)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Cerebral dysmyelination (HP:0007266)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Trichorrhexis nodosa (HP:0009886)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Hypertonia (HP:0001276)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ERCC2
Phenotype: Hypertonia (HP:0001276)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC2
Phenotype: Mental deterioration (HP:0001268)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D (OMIM:278730)
Gene: ERCC2
Phenotype: Confusion (HP:0001289)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC2
Phenotype: Seizure (HP:0001250)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC2
Phenotype: Seizure (HP:0001250)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC2
Phenotype: Ataxia (HP:0001251)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: ERCC2
Phenotype: Ataxia (HP:0001251)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC2
Phenotype: Ataxia (HP:0001251)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D (OMIM:278730)
Gene: ERCC2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: XP/CS complex; Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
Gene: ERCC2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Gene: ERCC2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D (OMIM:278730)
Gene: ERCC2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Trichothiodystrophy (ORPHA:33364)