TaoMedAI/RareMedData huggingface dataset:
Gene: ADGRV1
Phenotype: Hypotonia (HP:0001252)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: ADGRV1
Phenotype: Ataxia (HP:0001251)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: ADGRV1
Phenotype: Ataxia (HP:0001251)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: ADGRV1
Phenotype: Obsessive-compulsive trait (HP:0008770)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: ADGRV1
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: ADGRV1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: ADGRV1
Phenotype: Cortical dysplasia (HP:0002539)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: ADGRV1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADGRV1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: USHER SYNDROME, TYPE IIC (OMIM:605472)
Gene: ADGRV1
Phenotype: Tremor (HP:0001337)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: ADGRV1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADGRV1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FEBRILE SEIZURES, FAMILIAL, 4 (OMIM:604352)
Gene: ADGRV1
Phenotype: Subcortical cerebral atrophy (HP:0012157)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: ADGRV1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADGRV1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADGRV1
Phenotype: Talipes valgus (HP:0004684)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: ADGRV1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: ADGRV1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: ADGRV1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: FEBRILE SEIZURES, FAMILIAL, 4 (OMIM:604352)
Gene: ADGRV1
Phenotype: Bradykinesia (HP:0002067)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: ADGRV1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: ADGRV1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: ADGRV1
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: ADGRV1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: ADGRV1
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: ADGRV1
Phenotype: Infantile onset (HP:0003593)
Associated disease: FEBRILE SEIZURES, FAMILIAL, 4 (OMIM:604352)
Gene: ADGRV1
Phenotype: Schizophrenia (HP:0100753)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: ADGRV1
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: ADGRV1
Phenotype: Generalized cerebral atrophy/hypoplasia (HP:0007058)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: ADGRV1
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: ADGRV1
Phenotype: Developmental regression (HP:0002376)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: ADGRV1
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: ADGRV1
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: FEBRILE SEIZURES, FAMILIAL, 4 (OMIM:604352)
Gene: ADGRV1
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: USHER SYNDROME, TYPE IIC (OMIM:605472)
Gene: ADGRV1
Phenotype: Atonic seizure (HP:0010819)
Associated disease: FEBRILE SEIZURES, FAMILIAL, 4 (OMIM:604352)
Gene: ADGRV1
Phenotype: Atonic seizure (HP:0010819)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: ADGRV1
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: FEBRILE SEIZURES, FAMILIAL, 4 (OMIM:604352)
Gene: ADGRV1
Phenotype: Tibial torsion (HP:0100694)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: ADGRV1
Phenotype: Incoordination (HP:0002311)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: ADGRV1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADGRV1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: ADGRV1
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: ADGRV1
Phenotype: Microdontia (HP:0000691)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: ADGRV1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: ADGRV1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADGRV1
Phenotype: Carious teeth (HP:0000670)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: ADGRV1
Phenotype: Limited knee extension (HP:0003066)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: ADGRV1
Phenotype: Hallucinations (HP:0000738)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: ADGRV1
Phenotype: Anxiety (HP:0000739)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: ADGRV1
Phenotype: Anxiety (HP:0000739)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: ADGRV1
Phenotype: Depression (HP:0000716)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: ADGRV1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: ADGRV1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADGRV1
Phenotype: Childhood onset (HP:0011463)
Associated disease: FEBRILE SEIZURES, FAMILIAL, 4 (OMIM:604352)
Gene: ADGRV1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADGRV1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADGRV1
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: ADGRV1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADGRV1
Phenotype: Abnormality of dental color (HP:0011073)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: ADGRV1
Phenotype: Hemianopia (HP:0012377)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: ADGRV1
Phenotype: Abnormality of the inner ear (HP:0000359)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: ADGRV1
Phenotype: Atypical absence status epilepticus (HP:0011151)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: ADGRV1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: ADGRV1
Phenotype: Pes planus (HP:0001763)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: ADGRV1
Phenotype: Cataract (HP:0000518)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: ADGRV1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADGRV1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: USHER SYNDROME, TYPE IIC (OMIM:605472)
Gene: ADGRV1
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: ADGRV1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADGRV1
Phenotype: Scotoma (HP:0000575)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: ADGRV1
Phenotype: Visual loss (HP:0000572)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: ADGRV1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADGRV1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADGRV1
Phenotype: Myopia (HP:0000545)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: MAGT1
Phenotype: Persistent CMV viremia (HP:0032247)
Associated disease: IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA (OMIM:300853)
Gene: MAGT1
Phenotype: Chronic active Epstein-Barr virus infection (HP:0032204)
Associated disease: IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA (OMIM:300853)
Gene: MAGT1
Phenotype: Decreased proportion of CD4-positive T cells (HP:0032218)
Associated disease: IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA (OMIM:300853)
Gene: MAGT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc (OMIM:301031)
Gene: MAGT1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc (OMIM:301031)
Gene: MAGT1
Phenotype: Lymphoma (HP:0002665)
Associated disease: IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA (OMIM:300853)
Gene: MAGT1
Phenotype: B-cell lymphoma (HP:0012191)
Associated disease: IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA (OMIM:300853)
Gene: MAGT1
Phenotype: Hodgkin lymphoma (HP:0012189)
Associated disease: IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA (OMIM:300853)
Gene: MAGT1
Phenotype: Decreased CD69 upregulation upon TCR activation (HP:0031268)
Associated disease: IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA (OMIM:300853)
Gene: MAGT1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA (OMIM:300853)
Gene: MAGT1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc (OMIM:301031)
Gene: MAGT1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA (OMIM:300853)
Gene: MAGT1
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA (OMIM:300853)
Gene: MAGT1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA (OMIM:300853)
Gene: MAGT1
Phenotype: Inverted CD4:CD8 ratio (HP:0033222)
Associated disease: IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA (OMIM:300853)
Gene: MAGT1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc (OMIM:301031)
Gene: MAGT1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA (OMIM:300853)
Gene: MAGT1
Phenotype: Mediastinal lymphadenopathy (HP:0100721)
Associated disease: IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA (OMIM:300853)
Gene: MAGT1
Phenotype: Persistent EBV viremia (HP:0020072)
Associated disease: IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA (OMIM:300853)
Gene: MAGT1
Phenotype: Severe varicella zoster infection (HP:0032170)
Associated disease: IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA (OMIM:300853)
Gene: MAGT1
Phenotype: Type I transferrin isoform profile (HP:0003642)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc (OMIM:301031)
Gene: MAGT1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA (OMIM:300853)
Gene: MAGT1
Phenotype: Lymphoproliferative disorder (HP:0005523)
Associated disease: IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA (OMIM:300853)
Gene: MAGT1
Phenotype: Autoimmune thrombocytopenia (HP:0001973)
Associated disease: IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA (OMIM:300853)
Gene: MAGT1
Phenotype: Young adult onset (HP:0011462)
Associated disease: IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA (OMIM:300853)
Gene: MAGT1
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA (OMIM:300853)
Gene: MAGT1
Phenotype: Recurrent bronchitis (HP:0002837)
Associated disease: IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA (OMIM:300853)
Gene: MAGT1
Phenotype: Decreased specific anti-polysaccharide antibody level (HP:0002848)
Associated disease: IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA (OMIM:300853)
Gene: MAGT1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA (OMIM:300853)
Gene: MAGT1
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA (OMIM:300853)
Gene: MAGT1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA (OMIM:300853)
Gene: MAGT1
Phenotype: Decreased T cell activation (HP:0005419)
Associated disease: IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA (OMIM:300853)
Gene: DTNBP1
Phenotype: Ocular albinism (HP:0001107)
Associated disease: HERMANSKY-PUDLAK SYNDROME 7 (OMIM:614076)
Gene: DTNBP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HERMANSKY-PUDLAK SYNDROME 7 (OMIM:614076)
Gene: DTNBP1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: HERMANSKY-PUDLAK SYNDROME 7 (OMIM:614076)
Gene: DTNBP1
Phenotype: Prolonged bleeding after dental extraction (HP:0006298)
Associated disease: HERMANSKY-PUDLAK SYNDROME 7 (OMIM:614076)
Gene: DTNBP1
Phenotype: Menorrhagia (HP:0000132)
Associated disease: HERMANSKY-PUDLAK SYNDROME 7 (OMIM:614076)
Gene: DTNBP1
Phenotype: Post-partum hemorrhage (HP:0011891)
Associated disease: HERMANSKY-PUDLAK SYNDROME 7 (OMIM:614076)
Gene: DTNBP1
Phenotype: Impaired platelet aggregation (HP:0003540)
Associated disease: HERMANSKY-PUDLAK SYNDROME 7 (OMIM:614076)
Gene: DTNBP1
Phenotype: Albinism (HP:0001022)
Associated disease: HERMANSKY-PUDLAK SYNDROME 7 (OMIM:614076)
Gene: DTNBP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: HERMANSKY-PUDLAK SYNDROME 7 (OMIM:614076)
Gene: DTNBP1
Phenotype: Persistent bleeding after trauma (HP:0001934)
Associated disease: HERMANSKY-PUDLAK SYNDROME 7 (OMIM:614076)
Gene: DTNBP1
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: HERMANSKY-PUDLAK SYNDROME 7 (OMIM:614076)
Gene: DTNBP1
Phenotype: Childhood onset (HP:0011463)
Associated disease: HERMANSKY-PUDLAK SYNDROME 7 (OMIM:614076)
Gene: DTNBP1
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: HERMANSKY-PUDLAK SYNDROME 7 (OMIM:614076)
Gene: DTNBP1
Phenotype: Epistaxis (HP:0000421)
Associated disease: HERMANSKY-PUDLAK SYNDROME 7 (OMIM:614076)
Gene: DTNBP1
Phenotype: Visual impairment (HP:0000505)
Associated disease: HERMANSKY-PUDLAK SYNDROME 7 (OMIM:614076)
Gene: TMEM222
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES (OMIM:619470)
Gene: TMEM222
Phenotype: Motor delay (HP:0001270)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES (OMIM:619470)
Gene: TMEM222
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES (OMIM:619470)
Gene: TMEM222
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES (OMIM:619470)
Gene: TMEM222
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES (OMIM:619470)
Gene: TMEM222
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES (OMIM:619470)
Gene: TMEM222
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES (OMIM:619470)
Gene: TMEM222
Phenotype: Tremor (HP:0001337)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES (OMIM:619470)
Gene: TMEM222
Phenotype: Broad-based gait (HP:0002136)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES (OMIM:619470)
Gene: TMEM222
Phenotype: Esodeviation (HP:0020045)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES (OMIM:619470)
Gene: TMEM222
Phenotype: Optic atrophy (HP:0000648)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES (OMIM:619470)
Gene: TMEM222
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES (OMIM:619470)
Gene: TMEM222
Phenotype: Hyperactivity (HP:0000752)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES (OMIM:619470)
Gene: TMEM222
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES (OMIM:619470)
Gene: TMEM222
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES (OMIM:619470)
Gene: TMEM222
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES (OMIM:619470)
Gene: TMEM222
Phenotype: Autistic behavior (HP:0000729)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES (OMIM:619470)
Gene: TMEM222
Phenotype: Periventricular white matter hyperintensities (HP:0030891)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES (OMIM:619470)
Gene: TMEM222
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES (OMIM:619470)
Gene: TMEM222
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES (OMIM:619470)
Gene: TMEM222
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES (OMIM:619470)
Gene: TMEM222
Phenotype: Strabismus (HP:0000486)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES (OMIM:619470)
Gene: TMEM222
Phenotype: Small nail (HP:0001792)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES (OMIM:619470)
Gene: SLC10A7
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC10A7
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC10A7
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SLC10A7
Phenotype: Hypotonia (HP:0001252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SLC10A7
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC10A7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC10A7
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SHORT STATURE, AMELOGENESIS IMPERFECTA, AND SKELETAL DYSPLASIA WITH SCOLIOSIS (OMIM:618363)
Gene: SLC10A7
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SLC10A7
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC10A7
Phenotype: Short femoral neck (HP:0100864)
Associated disease: SHORT STATURE, AMELOGENESIS IMPERFECTA, AND SKELETAL DYSPLASIA WITH SCOLIOSIS (OMIM:618363)
Gene: SLC10A7
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC10A7
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SLC10A7
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: SHORT STATURE, AMELOGENESIS IMPERFECTA, AND SKELETAL DYSPLASIA WITH SCOLIOSIS (OMIM:618363)
Gene: SLC10A7
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)