TaoMedAI/RareMedData huggingface dataset:
Gene: SAMD12
Phenotype: Tremor (HP:0001337)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1 (OMIM:601068)
Gene: SAMD12
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1 (OMIM:601068)
Gene: SAMD12
Phenotype: Myoclonus (HP:0001336)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)
Gene: SAMD12
Phenotype: Giant somatosensory evoked potentials (HP:0001312)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1 (OMIM:601068)
Gene: SAMD12
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1 (OMIM:601068)
Gene: SAMD12
Phenotype: Amaurosis fugax (HP:0100576)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)
Gene: SAMD12
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1 (OMIM:601068)
Gene: SAMD12
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)
Gene: SAMD12
Phenotype: Adult onset (HP:0003581)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1 (OMIM:601068)
Gene: SAMD12
Phenotype: Hand tremor (HP:0002378)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)
Gene: SAMD12
Phenotype: EEG abnormality (HP:0002353)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)
Gene: SAMD12
Phenotype: Nonprogressive (HP:0003680)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1 (OMIM:601068)
Gene: SAMD12
Phenotype: Headache (HP:0002315)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)
Gene: SOHLH1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: SOHLH1
Phenotype: Abnormal spermatogenesis (HP:0008669)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: SOHLH1
Phenotype: Azoospermia (HP:0000027)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: SOHLH1
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: OVARIAN DYSGENESIS 5 (OMIM:617690)
Gene: SOHLH1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OVARIAN DYSGENESIS 5 (OMIM:617690)
Gene: SOHLH1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPERMATOGENIC FAILURE 32 (OMIM:618115)
Gene: SOHLH1
Phenotype: Phenotypic abnormality (HP:0000118)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: SOHLH1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: OVARIAN DYSGENESIS 5 (OMIM:617690)
Gene: SOHLH1
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: OVARIAN DYSGENESIS 5 (OMIM:617690)
Gene: SOHLH1
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: OVARIAN DYSGENESIS 5 (OMIM:617690)
Gene: SOHLH1
Phenotype: Elevated circulating luteinizing hormone level (HP:0011969)
Associated disease: OVARIAN DYSGENESIS 5 (OMIM:617690)
Gene: SOHLH1
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: SPERMATOGENIC FAILURE 32 (OMIM:618115)
Gene: SOHLH1
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: SOHLH1
Phenotype: Obstructive azoospermia (HP:0011962)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: SOHLH1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: OVARIAN DYSGENESIS 5 (OMIM:617690)
Gene: SOHLH1
Phenotype: Short stature (HP:0004322)
Associated disease: OVARIAN DYSGENESIS 5 (OMIM:617690)
Gene: SOHLH1
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 32 (OMIM:618115)
Gene: SOHLH1
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: OVARIAN DYSGENESIS 5 (OMIM:617690)
Gene: SOHLH1
Phenotype: Sertoli cell-only phenotype (HP:0034299)
Associated disease: SPERMATOGENIC FAILURE 32 (OMIM:618115)
Gene: SOHLH1
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: SOHLH1
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 32 (OMIM:618115)
Gene: SOHLH1
Phenotype: Early young adult onset (HP:0025708)
Associated disease: OVARIAN DYSGENESIS 5 (OMIM:617690)
Gene: KPNA7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 17 (OMIM:620319)
Gene: KPNA7
Phenotype: Amenorrhea (HP:0000141)
Associated disease: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 17 (OMIM:620319)
Gene: KPNA7
Phenotype: Female infertility (HP:0008222)
Associated disease: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 17 (OMIM:620319)
Gene: KPNA7
Phenotype: Young adult onset (HP:0011462)
Associated disease: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 17 (OMIM:620319)
Gene: GTF2H5
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Abnormality of prenatal development or birth (HP:0001197)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Hypoplasia of mandible relative to maxilla (HP:0410219)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Cerebral dysmyelination (HP:0007266)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Trichorrhexis nodosa (HP:0009886)
Associated disease: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE (OMIM:616395)
Gene: GTF2H5
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Hypertonia (HP:0001276)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Hypertonia (HP:0001276)
Associated disease: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE (OMIM:616395)
Gene: GTF2H5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE (OMIM:616395)
Gene: GTF2H5
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Dysarthria (HP:0001260)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE (OMIM:616395)
Gene: GTF2H5
Phenotype: Spasticity (HP:0001257)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Low-set nipples (HP:0002562)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Congenital ichthyosiform erythroderma (HP:0007431)
Associated disease: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE (OMIM:616395)
Gene: GTF2H5
Phenotype: Congenital exfoliative erythroderma (HP:0007381)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Bilateral cryptorchidism (HP:0008689)
Associated disease: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE (OMIM:616395)
Gene: GTF2H5
Phenotype: Clubbing (HP:0001217)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Joint dislocation (HP:0001373)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Absence of subcutaneous fat (HP:0007485)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Congenital nonbullous ichthyosiform erythroderma (HP:0007479)
Associated disease: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE (OMIM:616395)
Gene: GTF2H5
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE (OMIM:616395)
Gene: GTF2H5
Phenotype: Bilateral microphthalmos (HP:0007633)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Numerous pigmented freckles (HP:0007587)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Gonadal dysgenesis (HP:0000133)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Recurrent infections (HP:0002719)
Associated disease: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE (OMIM:616395)
Gene: GTF2H5
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE (OMIM:616395)
Gene: GTF2H5
Phenotype: Intention tremor (HP:0002080)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Abdominal adhesions (HP:0033134)
Associated disease: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE (OMIM:616395)
Gene: GTF2H5
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE (OMIM:616395)
Gene: GTF2H5
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Paraplegia/paraparesis (HP:0010551)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Meckel diverticulum (HP:0002245)
Associated disease: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE (OMIM:616395)
Gene: GTF2H5
Phenotype: Congenital onset (HP:0003577)
Associated disease: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE (OMIM:616395)
Gene: GTF2H5
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Brittle hair (HP:0002299)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Brittle hair (HP:0002299)
Associated disease: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE (OMIM:616395)
Gene: GTF2H5
Phenotype: Alopecia of scalp (HP:0002293)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Generalized hyperreflexia (HP:0007034)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE (OMIM:616395)
Gene: GTF2H5
Phenotype: Dystrophic fingernails (HP:0008391)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Aplasia/Hypoplasia of the nails (HP:0008386)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Bronchoconstriction (HP:4000007)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Nystagmus (HP:0000639)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Photophobia (HP:0000613)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Macular degeneration (HP:0000608)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Hypotelorism (HP:0000601)
Associated disease: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE (OMIM:616395)
Gene: GTF2H5
Phenotype: Anemia (HP:0001903)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Natal tooth (HP:0000695)
Associated disease: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE (OMIM:616395)
Gene: GTF2H5
Phenotype: Ectropion (HP:0000656)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Ectropion (HP:0000656)
Associated disease: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE (OMIM:616395)
Gene: GTF2H5
Phenotype: Carious teeth (HP:0000670)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Carious teeth (HP:0000670)
Associated disease: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE (OMIM:616395)
Gene: GTF2H5
Phenotype: Short stature (HP:0004322)
Associated disease: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE (OMIM:616395)
Gene: GTF2H5
Phenotype: Periventricular leukomalacia (HP:0006970)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Defective DNA repair after ultraviolet radiation damage (HP:0003079)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Panhypogammaglobulinemia (HP:0003139)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Tiger tail banding (HP:0045055)
Associated disease: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE (OMIM:616395)
Gene: GTF2H5
Phenotype: Tiger tail banding (HP:0045055)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Increased circulating IgA concentration (HP:0003261)
Associated disease: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE (OMIM:616395)
Gene: GTF2H5
Phenotype: Diffuse cerebellar atrophy (HP:0100275)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE (OMIM:616395)
Gene: GTF2H5
Phenotype: Dry skin (HP:0000958)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Osteopenia (HP:0000938)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Ichthyosis (HP:0008064)
Associated disease: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE (OMIM:616395)
Gene: GTF2H5
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE (OMIM:616395)
Gene: GTF2H5
Phenotype: Epicanthus (HP:0000286)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Retrognathia (HP:0000278)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Increased mean corpuscular hemoglobin concentration (HP:0025548)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Concave nail (HP:0001598)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE (OMIM:616395)
Gene: GTF2H5
Phenotype: Microcephaly (HP:0000252)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Failure to thrive (HP:0001508)
Associated disease: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE (OMIM:616395)
Gene: GTF2H5
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE (OMIM:616395)
Gene: GTF2H5
Phenotype: Recurrent bronchopulmonary infections (HP:0006538)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Dysphonia (HP:0001618)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Thoracic kyphosis (HP:0002942)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Hearing impairment (HP:0000365)
Associated disease: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE (OMIM:616395)
Gene: GTF2H5
Phenotype: Low-set ears (HP:0000369)
Associated disease: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE (OMIM:616395)
Gene: GTF2H5
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Bird-like facies (HP:0000320)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Astigmatism (HP:0000483)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Strabismus (HP:0000486)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Microcornea (HP:0000482)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Eclabion (HP:0012472)
Associated disease: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE (OMIM:616395)
Gene: GTF2H5
Phenotype: Protruding ear (HP:0000411)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Cataract (HP:0000518)
Associated disease: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE (OMIM:616395)
Gene: GTF2H5
Phenotype: Developmental cataract (HP:0000519)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Developmental cataract (HP:0000519)
Associated disease: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE (OMIM:616395)
Gene: GTF2H5
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Split nail (HP:0001809)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Fragile nails (HP:0001808)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Ridged nail (HP:0001807)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE (OMIM:616395)
Gene: GTF2H5
Phenotype: Microphthalmia (HP:0000568)
Associated disease: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE (OMIM:616395)
Gene: GTF2H5
Phenotype: Esotropia (HP:0000565)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Myopia (HP:0000545)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2H5
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE (OMIM:616395)
Gene: DUOXA2
Phenotype: Lethargy (HP:0001254)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: DUOXA2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: DUOXA2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: THYROID DYSHORMONOGENESIS 5 (OMIM:274900)
Gene: DUOXA2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: DUOXA2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: DUOXA2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: DUOXA2
Phenotype: Delayed proximal femoral epiphyseal ossification (HP:0008828)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: DUOXA2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: THYROID DYSHORMONOGENESIS 5 (OMIM:274900)
Gene: DUOXA2
Phenotype: Abnormal circulating thyroglobulin concentration (HP:0025483)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: DUOXA2
Phenotype: Positive perchlorate discharge test (HP:0025482)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: DUOXA2
Phenotype: Macroglossia (HP:0000158)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: DUOXA2
Phenotype: Reduced radioactive iodine uptake (HP:0031219)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: DUOXA2
Phenotype: Increased radioactive iodine uptake (HP:0031220)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: DUOXA2
Phenotype: Constipation (HP:0002019)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: DUOXA2
Phenotype: Hypothermia (HP:0002045)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: DUOXA2
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: DUOXA2
Phenotype: Thyroid defect in oxidation and organification of iodide (HP:0008263)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: DUOXA2
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: THYROID DYSHORMONOGENESIS 5 (OMIM:274900)
Gene: DUOXA2
Phenotype: Maternal autoimmune disease (HP:0011437)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)