TaoMedAI/RareMedData huggingface dataset:
Gene: CREBBP
Phenotype: Coloboma (HP:0000589)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Prominent forehead (HP:0011220)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Prominent forehead (HP:0011220)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Menke-Hennekam syndrome (ORPHA:592574)
Gene: CREBBP
Phenotype: Corneal scarring (HP:0000559)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Hypermetropia (HP:0000540)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Menke-Hennekam syndrome (ORPHA:592574)
Gene: CREBBP
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Abnormality of refraction (HP:0000539)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREBBP
Phenotype: Myopia (HP:0000545)
Associated disease: Menke-Hennekam syndrome (ORPHA:592574)
Gene: CRH
Phenotype: Confusional arousal (HP:0025237)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CRH
Phenotype: Somnambulism (HP:0025236)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CRH
Phenotype: NREM parasomnia (HP:0025235)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CRH
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CRH
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CRH
Phenotype: Psychotic mentation (HP:0001345)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CRH
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CRH
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CRH
Phenotype: Paroxysmal dystonia (HP:0002268)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CRH
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CRH
Phenotype: Nocturnal seizures (HP:0031951)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CRH
Phenotype: Involuntary movements (HP:0004305)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CRH
Phenotype: Anxiety (HP:0000739)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CRH
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CRH
Phenotype: Depression (HP:0000716)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CRH
Phenotype: Atypical behavior (HP:0000708)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CRH
Phenotype: Hyperventilation (HP:0002883)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CRH
Phenotype: Increased theta frequency activity in EEG (HP:0031535)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CRH
Phenotype: EEG with focal spikes (HP:0011193)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CRH
Phenotype: Interictal epileptiform activity (HP:0011182)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CRH
Phenotype: Focal hyperkinetic seizure (HP:0011174)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CRH
Phenotype: Suicidal ideation (HP:0031589)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CRKL
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Language impairment (HP:0002463)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Seizure (HP:0001250)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Neoplasm (HP:0002664)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Coxa valga (HP:0002673)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Bowel incontinence (HP:0002607)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Cleft palate (HP:0000175)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Ulnar deviation of finger (HP:0009465)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Branchial fistula (HP:0009795)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Short palm (HP:0004279)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Short stature (HP:0004322)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Tics (HP:0100033)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Depression (HP:0000716)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Ankyloglossia (HP:0010296)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Long face (HP:0000276)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Malar flattening (HP:0000272)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Microcephaly (HP:0000252)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Growth delay (HP:0001510)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Abnormal earlobe morphology (HP:0000363)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Truncus arteriosus (HP:0001660)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Premature birth (HP:0001622)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Pointed chin (HP:0000307)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Pes planus (HP:0001763)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Sandal gap (HP:0001852)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Absent toenail (HP:0001802)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Absent fingernail (HP:0001817)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRKL
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: CRX
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: CRX
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CRX
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: CONE-ROD DYSTROPHY 2 (OMIM:120970)
Gene: CRX
Phenotype: Severely reduced visual acuity (HP:0001141)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRX
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRX
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CRX
Phenotype: Motor delay (HP:0001270)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRX
Phenotype: Seizure (HP:0001250)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRX
Phenotype: Hypotonia (HP:0001252)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRX
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRX
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRX
Phenotype: Pendular nystagmus (HP:0012043)
Associated disease: LEBER CONGENITAL AMAUROSIS 7 (OMIM:613829)
Gene: CRX
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CRX
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: CRX
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEBER CONGENITAL AMAUROSIS 7 (OMIM:613829)
Gene: CRX
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CRX
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: CRX
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CONE-ROD DYSTROPHY 2 (OMIM:120970)
Gene: CRX
Phenotype: Eye poking (HP:0001483)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRX
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CRX
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRX
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CRX
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: CONE-ROD DYSTROPHY 2 (OMIM:120970)
Gene: CRX
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRX
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CRX
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: CRX
Phenotype: Encephalocele (HP:0002084)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRX
Phenotype: Infantile onset (HP:0003593)
Associated disease: LEBER CONGENITAL AMAUROSIS 7 (OMIM:613829)
Gene: CRX
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRX
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CRX
Phenotype: Aplasia/Hypoplasia of the cerebellar vermis (HP:0006817)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRX
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CRX
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRX
Phenotype: Nystagmus (HP:0000639)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRX
Phenotype: Nystagmus (HP:0000639)
Associated disease: LEBER CONGENITAL AMAUROSIS 7 (OMIM:613829)
Gene: CRX
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRX
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRX
Phenotype: Blindness (HP:0000618)
Associated disease: CONE-ROD DYSTROPHY 2 (OMIM:120970)
Gene: CRX
Phenotype: Photophobia (HP:0000613)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CRX
Phenotype: Photophobia (HP:0000613)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRX
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRX
Phenotype: Photophobia (HP:0000613)
Associated disease: LEBER CONGENITAL AMAUROSIS 7 (OMIM:613829)
Gene: CRX
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRX
Phenotype: Central scotoma (HP:0000603)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CRX
Phenotype: Central scotoma (HP:0000603)
Associated disease: CONE-ROD DYSTROPHY 2 (OMIM:120970)
Gene: CRX
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CRX
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRX
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRX
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRX
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRX
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: CRX
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CRX
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CRX
Phenotype: Nyctalopia (HP:0000662)
Associated disease: CONE-ROD DYSTROPHY 2 (OMIM:120970)
Gene: CRX
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRX
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRX
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRX
Phenotype: Abnormal optic disc morphology (HP:0012795)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRX
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CRX
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CRX
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRX
Phenotype: Macular hyperpigmentation (HP:0011509)
Associated disease: CONE-ROD DYSTROPHY 2 (OMIM:120970)
Gene: CRX
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRX
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRX
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)