TaoMedAI/RareMedData huggingface dataset:
Gene: ERCC6
Phenotype: Short chin (HP:0000331)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC6
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Triangular face (HP:0000325)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC6
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Progeroid facial appearance (HP:0005328)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Progeroid facial appearance (HP:0005328)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Progeroid facial appearance (HP:0005328)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC6
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC6
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
Gene: ERCC6
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Macrotia (HP:0000400)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Macrotia (HP:0000400)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Macrotia (HP:0000400)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC6
Phenotype: Strabismus (HP:0000486)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Strabismus (HP:0000486)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Strabismus (HP:0000486)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Strabismus (HP:0000486)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC6
Phenotype: Strabismus (HP:0000486)
Associated disease: DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
Gene: ERCC6
Phenotype: Microcornea (HP:0000482)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Microcornea (HP:0000482)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Keratitis (HP:0000491)
Associated disease: DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
Gene: ERCC6
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Deeply set eye (HP:0000490)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Deeply set eye (HP:0000490)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Narrow nose (HP:0000460)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Delayed myelination (HP:0012448)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Brain atrophy (HP:0012444)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Abnormal myelination (HP:0012447)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Short neck (HP:0000470)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC6
Phenotype: Prominent nose (HP:0000448)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Scissor gait (HP:0012407)
Associated disease: DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
Gene: ERCC6
Phenotype: Slender nose (HP:0000417)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Splenomegaly (HP:0001744)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC6
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC6
Phenotype: Cataract (HP:0000518)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Cataract (HP:0000518)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Cataract (HP:0000518)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Cataract (HP:0000518)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC6
Phenotype: Developmental cataract (HP:0000519)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Developmental cataract (HP:0000519)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC6
Phenotype: Anophthalmia (HP:0000528)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Anophthalmia (HP:0000528)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC6
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC6
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
Gene: ERCC6
Phenotype: Visual impairment (HP:0000505)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Visual impairment (HP:0000505)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC6
Phenotype: Visual impairment (HP:0000505)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC6
Phenotype: Abnormality of the ear (HP:0000598)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Non-small cell lung carcinoma (HP:0030358)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: ERCC6
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Uveitis (HP:0000554)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC6
Phenotype: Uveitis (HP:0000554)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC6
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Retinal hemorrhage (HP:0000573)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Microphthalmia (HP:0000568)
Associated disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Gene: ERCC6
Phenotype: Microphthalmia (HP:0000568)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC6
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Hypermetropia (HP:0000540)
Associated disease: COCKAYNE SYNDROME B (OMIM:133540)
Gene: ERCC6
Phenotype: Talipes (HP:0001883)
Associated disease: Cerebrooculofacioskeletal syndrome; COFS syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Gene: ERCC6
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC6
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERF
Phenotype: Brachydactyly (HP:0001156)
Associated disease: CHITAYAT SYNDROME (OMIM:617180)
Gene: ERF
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ERF
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ERF
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CHITAYAT SYNDROME (OMIM:617180)
Gene: ERF
Phenotype: Motor delay (HP:0001270)
Associated disease: CHITAYAT SYNDROME (OMIM:617180)
Gene: ERF
Phenotype: Hypotonia (HP:0001252)
Associated disease: CHITAYAT SYNDROME (OMIM:617180)
Gene: ERF
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CHITAYAT SYNDROME (OMIM:617180)
Gene: ERF
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ERF
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: CRANIOSYNOSTOSIS 4 (OMIM:600775)
Gene: ERF
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: ERF
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ERF
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ERF
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CRANIOSYNOSTOSIS 4 (OMIM:600775)
Gene: ERF
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ERF
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHITAYAT SYNDROME (OMIM:617180)
Gene: ERF
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ERF
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: ERF
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ERF
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Narrow palate (HP:0000189)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: ERF
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Bronchomalacia (HP:0002780)
Associated disease: CHITAYAT SYNDROME (OMIM:617180)
Gene: ERF
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: CHITAYAT SYNDROME (OMIM:617180)
Gene: ERF
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: CHITAYAT SYNDROME (OMIM:617180)
Gene: ERF
Phenotype: Short columella (HP:0002000)
Associated disease: CHITAYAT SYNDROME (OMIM:617180)
Gene: ERF
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: ERF
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: ERF
Phenotype: Midface retrusion (HP:0011800)
Associated disease: CRANIOSYNOSTOSIS 4 (OMIM:600775)
Gene: ERF
Phenotype: Respiratory distress (HP:0002098)
Associated disease: CHITAYAT SYNDROME (OMIM:617180)
Gene: ERF
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: ERF
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ERF
Phenotype: Ectopic posterior pituitary (HP:0011755)
Associated disease: CRANIOSYNOSTOSIS 4 (OMIM:600775)
Gene: ERF
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Short middle phalanx of the 2nd finger (HP:0009577)
Associated disease: CHITAYAT SYNDROME (OMIM:617180)
Gene: ERF
Phenotype: Short 2nd finger (HP:0009536)
Associated disease: CHITAYAT SYNDROME (OMIM:617180)
Gene: ERF
Phenotype: Infantile onset (HP:0003593)
Associated disease: CRANIOSYNOSTOSIS 4 (OMIM:600775)
Gene: ERF
Phenotype: Congenital onset (HP:0003577)
Associated disease: CHITAYAT SYNDROME (OMIM:617180)
Gene: ERF
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: CHITAYAT SYNDROME (OMIM:617180)
Gene: ERF
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: CRANIOSYNOSTOSIS 4 (OMIM:600775)
Gene: ERF
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: ERF
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ERF
Phenotype: Headache (HP:0002315)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: ERF
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ERF
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CHITAYAT SYNDROME (OMIM:617180)
Gene: ERF
Phenotype: Chiari malformation (HP:0002308)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: ERF
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ERF
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ERF
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: CHITAYAT SYNDROME (OMIM:617180)
Gene: ERF
Phenotype: Short middle phalanx of the 5th finger (HP:0004220)
Associated disease: CHITAYAT SYNDROME (OMIM:617180)
Gene: ERF
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ERF
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ERF
Phenotype: Amblyopia (HP:0000646)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: ERF
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: ERF
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: ERF
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: CRANIOSYNOSTOSIS 4 (OMIM:600775)
Gene: ERF
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ERF
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Narrow internal auditory canal (HP:0011386)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: ERF
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Pansynostosis (HP:0011325)
Associated disease: CRANIOSYNOSTOSIS 4 (OMIM:600775)
Gene: ERF
Phenotype: Multiple suture craniosynostosis (HP:0011324)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: ERF
Phenotype: Metopic synostosis (HP:0011330)
Associated disease: CRANIOSYNOSTOSIS 4 (OMIM:600775)
Gene: ERF
Phenotype: Bicoronal synostosis (HP:0011318)
Associated disease: CRANIOSYNOSTOSIS 4 (OMIM:600775)
Gene: ERF
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ERF
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: ERF
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Short stature (HP:0004322)
Associated disease: CHITAYAT SYNDROME (OMIM:617180)
Gene: ERF
Phenotype: Diminished ability to concentrate (HP:0031987)
Associated disease: CRANIOSYNOSTOSIS 4 (OMIM:600775)
Gene: ERF
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ERF
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ERF
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Third trimester onset (HP:0034197)
Associated disease: CHITAYAT SYNDROME (OMIM:617180)
Gene: ERF
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CHITAYAT SYNDROME (OMIM:617180)
Gene: ERF
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CHITAYAT SYNDROME (OMIM:617180)
Gene: ERF
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CRANIOSYNOSTOSIS 4 (OMIM:600775)
Gene: ERF
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Childhood onset (HP:0011463)
Associated disease: CRANIOSYNOSTOSIS 4 (OMIM:600775)
Gene: ERF
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Short proximal phalanx of hallux (HP:0010107)
Associated disease: CHITAYAT SYNDROME (OMIM:617180)
Gene: ERF
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Diaphragmatic eventration (HP:0009110)
Associated disease: CHITAYAT SYNDROME (OMIM:617180)
Gene: ERF
Phenotype: Lambdoidal craniosynostosis (HP:0004443)
Associated disease: CRANIOSYNOSTOSIS 4 (OMIM:600775)
Gene: ERF
Phenotype: Sagittal craniosynostosis (HP:0004442)
Associated disease: CRANIOSYNOSTOSIS 4 (OMIM:600775)
Gene: ERF
Phenotype: Coronal craniosynostosis (HP:0004440)
Associated disease: CRANIOSYNOSTOSIS 4 (OMIM:600775)
Gene: ERF
Phenotype: Abnormal skull morphology (HP:0000929)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: ERF
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ERF
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ERF
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ERF
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: ERF
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: ERF
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Retrognathia (HP:0000278)
Associated disease: CRANIOSYNOSTOSIS 4 (OMIM:600775)