TaoMedAI/RareMedData huggingface dataset:
Gene: GOLGA2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL DELAY WITH HYPOTONIA, MYOPATHY, AND BRAIN ABNORMALITIES (OMIM:620240)
Gene: GOLGA2
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: DEVELOPMENTAL DELAY WITH HYPOTONIA, MYOPATHY, AND BRAIN ABNORMALITIES (OMIM:620240)
Gene: GOLGA2
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: DEVELOPMENTAL DELAY WITH HYPOTONIA, MYOPATHY, AND BRAIN ABNORMALITIES (OMIM:620240)
Gene: GOLGA2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: DEVELOPMENTAL DELAY WITH HYPOTONIA, MYOPATHY, AND BRAIN ABNORMALITIES (OMIM:620240)
Gene: GOLGA2
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: DEVELOPMENTAL DELAY WITH HYPOTONIA, MYOPATHY, AND BRAIN ABNORMALITIES (OMIM:620240)
Gene: GOLGA2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEVELOPMENTAL DELAY WITH HYPOTONIA, MYOPATHY, AND BRAIN ABNORMALITIES (OMIM:620240)
Gene: GOLGA2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: DEVELOPMENTAL DELAY WITH HYPOTONIA, MYOPATHY, AND BRAIN ABNORMALITIES (OMIM:620240)
Gene: GOLGA2
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: DEVELOPMENTAL DELAY WITH HYPOTONIA, MYOPATHY, AND BRAIN ABNORMALITIES (OMIM:620240)
Gene: GOLGA2
Phenotype: Clonus (HP:0002169)
Associated disease: DEVELOPMENTAL DELAY WITH HYPOTONIA, MYOPATHY, AND BRAIN ABNORMALITIES (OMIM:620240)
Gene: GOLGA2
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL DELAY WITH HYPOTONIA, MYOPATHY, AND BRAIN ABNORMALITIES (OMIM:620240)
Gene: GOLGA2
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: DEVELOPMENTAL DELAY WITH HYPOTONIA, MYOPATHY, AND BRAIN ABNORMALITIES (OMIM:620240)
Gene: GOLGA2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DEVELOPMENTAL DELAY WITH HYPOTONIA, MYOPATHY, AND BRAIN ABNORMALITIES (OMIM:620240)
Gene: GOLGA2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: DEVELOPMENTAL DELAY WITH HYPOTONIA, MYOPATHY, AND BRAIN ABNORMALITIES (OMIM:620240)
Gene: GOLGA2
Phenotype: Muscle fiber atrophy (HP:0100295)
Associated disease: DEVELOPMENTAL DELAY WITH HYPOTONIA, MYOPATHY, AND BRAIN ABNORMALITIES (OMIM:620240)
Gene: GOLGA2
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: DEVELOPMENTAL DELAY WITH HYPOTONIA, MYOPATHY, AND BRAIN ABNORMALITIES (OMIM:620240)
Gene: GOLGA2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL DELAY WITH HYPOTONIA, MYOPATHY, AND BRAIN ABNORMALITIES (OMIM:620240)
Gene: GOLGA2
Phenotype: Brachycephaly (HP:0000248)
Associated disease: DEVELOPMENTAL DELAY WITH HYPOTONIA, MYOPATHY, AND BRAIN ABNORMALITIES (OMIM:620240)
Gene: GOLGA2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: DEVELOPMENTAL DELAY WITH HYPOTONIA, MYOPATHY, AND BRAIN ABNORMALITIES (OMIM:620240)
Gene: GOLGA2
Phenotype: Narrow forehead (HP:0000341)
Associated disease: DEVELOPMENTAL DELAY WITH HYPOTONIA, MYOPATHY, AND BRAIN ABNORMALITIES (OMIM:620240)
Gene: GOLGA2
Phenotype: Micrognathia (HP:0000347)
Associated disease: DEVELOPMENTAL DELAY WITH HYPOTONIA, MYOPATHY, AND BRAIN ABNORMALITIES (OMIM:620240)
Gene: GOLGA2
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: DEVELOPMENTAL DELAY WITH HYPOTONIA, MYOPATHY, AND BRAIN ABNORMALITIES (OMIM:620240)
Gene: GOLGA2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DEVELOPMENTAL DELAY WITH HYPOTONIA, MYOPATHY, AND BRAIN ABNORMALITIES (OMIM:620240)
Gene: GOLGA2
Phenotype: Strabismus (HP:0000486)
Associated disease: DEVELOPMENTAL DELAY WITH HYPOTONIA, MYOPATHY, AND BRAIN ABNORMALITIES (OMIM:620240)
Gene: GOLGA2
Phenotype: Infantile spasms (HP:0012469)
Associated disease: DEVELOPMENTAL DELAY WITH HYPOTONIA, MYOPATHY, AND BRAIN ABNORMALITIES (OMIM:620240)
Gene: GOLGA2
Phenotype: Brain atrophy (HP:0012444)
Associated disease: DEVELOPMENTAL DELAY WITH HYPOTONIA, MYOPATHY, AND BRAIN ABNORMALITIES (OMIM:620240)
Gene: GOLGA2
Phenotype: Prominent forehead (HP:0011220)
Associated disease: DEVELOPMENTAL DELAY WITH HYPOTONIA, MYOPATHY, AND BRAIN ABNORMALITIES (OMIM:620240)
Gene: GOT2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82 (OMIM:618721)
Gene: GOT2
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82 (OMIM:618721)
Gene: GOT2
Phenotype: Inability to walk (HP:0002540)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82 (OMIM:618721)
Gene: GOT2
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82 (OMIM:618721)
Gene: GOT2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82 (OMIM:618721)
Gene: GOT2
Phenotype: Absent speech (HP:0001344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82 (OMIM:618721)
Gene: GOT2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82 (OMIM:618721)
Gene: GOT2
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82 (OMIM:618721)
Gene: GOT2
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82 (OMIM:618721)
Gene: GOT2
Phenotype: Recurrent infections (HP:0002719)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82 (OMIM:618721)
Gene: GOT2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82 (OMIM:618721)
Gene: GOT2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82 (OMIM:618721)
Gene: GOT2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82 (OMIM:618721)
Gene: GOT2
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82 (OMIM:618721)
Gene: GOT2
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82 (OMIM:618721)
Gene: GOT2
Phenotype: Decreased body weight (HP:0004325)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82 (OMIM:618721)
Gene: GOT2
Phenotype: Short stature (HP:0004322)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82 (OMIM:618721)
Gene: GOT2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82 (OMIM:618721)
Gene: GOT2
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82 (OMIM:618721)
Gene: GP1BA
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: GP1BA
Phenotype: Seizure (HP:0001250)
Associated disease: Giant platelet syndrome; Bernard-Soulier syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Gene: GP1BA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: GP1BA
Phenotype: Spontaneous hematomas (HP:0007420)
Associated disease: Giant platelet syndrome; Bernard-Soulier syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Gene: GP1BA
Phenotype: Spontaneous hematomas (HP:0007420)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: GP1BA
Phenotype: Partially duplicated kidney (HP:0008738)
Associated disease: Giant platelet syndrome; Bernard-Soulier syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Gene: GP1BA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BERNARD-SOULIER SYNDROME (OMIM:231200)
Gene: GP1BA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO (OMIM:258660)
Gene: GP1BA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT (OMIM:153670)
Gene: GP1BA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PSEUDO-VON WILLEBRAND DISEASE (OMIM:177820)
Gene: GP1BA
Phenotype: Impaired collagen-related peptide-induced platelet aggregation (HP:0031128)
Associated disease: BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT (OMIM:153670)
Gene: GP1BA
Phenotype: Abnormal megakaryocyte morphology (HP:0012143)
Associated disease: Giant platelet syndrome; Bernard-Soulier syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Gene: GP1BA
Phenotype: Nonarteritic anterior ischemic optic neuropathy (HP:0007634)
Associated disease: NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO (OMIM:258660)
Gene: GP1BA
Phenotype: Prolonged bleeding after dental extraction (HP:0006298)
Associated disease: BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT (OMIM:153670)
Gene: GP1BA
Phenotype: Prolonged bleeding after dental extraction (HP:0006298)
Associated disease: Giant platelet syndrome; Bernard-Soulier syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Gene: GP1BA
Phenotype: Prolonged bleeding after dental extraction (HP:0006298)
Associated disease: BERNARD-SOULIER SYNDROME (OMIM:231200)
Gene: GP1BA
Phenotype: Menorrhagia (HP:0000132)
Associated disease: BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT (OMIM:153670)
Gene: GP1BA
Phenotype: Menorrhagia (HP:0000132)
Associated disease: Giant platelet syndrome; Bernard-Soulier syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Gene: GP1BA
Phenotype: Menorrhagia (HP:0000132)
Associated disease: BERNARD-SOULIER SYNDROME (OMIM:231200)
Gene: GP1BA
Phenotype: Asthma (HP:0002099)
Associated disease: Giant platelet syndrome; Bernard-Soulier syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Gene: GP1BA
Phenotype: Migraine (HP:0002076)
Associated disease: Giant platelet syndrome; Bernard-Soulier syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Gene: GP1BA
Phenotype: Subarachnoid hemorrhage (HP:0002138)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: GP1BA
Phenotype: Intracranial hemorrhage (HP:0002170)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: GP1BA
Phenotype: Increased mean platelet volume (HP:0011877)
Associated disease: BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT (OMIM:153670)
Gene: GP1BA
Phenotype: Decreased platelet glycoprotein Ib-IX-V (HP:0011879)
Associated disease: Giant platelet syndrome; Bernard-Soulier syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Gene: GP1BA
Phenotype: Impaired ristocetin-induced platelet aggregation (HP:0011871)
Associated disease: BERNARD-SOULIER SYNDROME (OMIM:231200)
Gene: GP1BA
Phenotype: Impaired ristocetin-induced platelet aggregation (HP:0011871)
Associated disease: BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT (OMIM:153670)
Gene: GP1BA
Phenotype: Impaired ristocetin-induced platelet aggregation (HP:0011871)
Associated disease: Giant platelet syndrome; Bernard-Soulier syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Gene: GP1BA
Phenotype: Congenital onset (HP:0003577)
Associated disease: BERNARD-SOULIER SYNDROME (OMIM:231200)
Gene: GP1BA
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Giant platelet syndrome; Bernard-Soulier syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Gene: GP1BA
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: GP1BA
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: BERNARD-SOULIER SYNDROME (OMIM:231200)
Gene: GP1BA
Phenotype: Melena (HP:0002249)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: GP1BA
Phenotype: Hematemesis (HP:0002248)
Associated disease: Giant platelet syndrome; Bernard-Soulier syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Gene: GP1BA
Phenotype: Intermittent thrombocytopenia (HP:0004854)
Associated disease: PSEUDO-VON WILLEBRAND DISEASE (OMIM:177820)
Gene: GP1BA
Phenotype: Impaired ADP-induced platelet aggregation (HP:0004866)
Associated disease: BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT (OMIM:153670)
Gene: GP1BA
Phenotype: Prolonged bleeding after surgery (HP:0004846)
Associated disease: Giant platelet syndrome; Bernard-Soulier syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Gene: GP1BA
Phenotype: Prolonged bleeding after surgery (HP:0004846)
Associated disease: BERNARD-SOULIER SYNDROME (OMIM:231200)
Gene: GP1BA
Phenotype: Neonatal alloimmune thrombocytopenia (HP:0004809)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: GP1BA
Phenotype: Blindness (HP:0000618)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: GP1BA
Phenotype: Giant platelets (HP:0001902)
Associated disease: Giant platelet syndrome; Bernard-Soulier syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Gene: GP1BA
Phenotype: Giant platelets (HP:0001902)
Associated disease: BERNARD-SOULIER SYNDROME (OMIM:231200)
Gene: GP1BA
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: PSEUDO-VON WILLEBRAND DISEASE (OMIM:177820)
Gene: GP1BA
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: BERNARD-SOULIER SYNDROME (OMIM:231200)
Gene: GP1BA
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: GP1BA
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: GP1BA
Phenotype: Hematuria (HP:0000790)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: GP1BA
Phenotype: Stomatocytosis (HP:0004446)
Associated disease: BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT (OMIM:153670)
Gene: GP1BA
Phenotype: Spontaneous, recurrent epistaxis (HP:0004406)
Associated disease: Giant platelet syndrome; Bernard-Soulier syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Gene: GP1BA
Phenotype: Purpura (HP:0000979)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: GP1BA
Phenotype: Purpura (HP:0000979)
Associated disease: BERNARD-SOULIER SYNDROME (OMIM:231200)
Gene: GP1BA
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT (OMIM:153670)
Gene: GP1BA
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Giant platelet syndrome; Bernard-Soulier syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Gene: GP1BA
Phenotype: Petechiae (HP:0000967)
Associated disease: BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT (OMIM:153670)
Gene: GP1BA
Phenotype: Petechiae (HP:0000967)
Associated disease: Giant platelet syndrome; Bernard-Soulier syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Gene: GP1BA
Phenotype: Petechiae (HP:0000967)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: GP1BA
Phenotype: Macrothrombocytopenia (HP:0040185)
Associated disease: Giant platelet syndrome; Bernard-Soulier syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Gene: GP1BA
Phenotype: Macrothrombocytopenia (HP:0040185)
Associated disease: BERNARD-SOULIER SYNDROME (OMIM:231200)
Gene: GP1BA
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT (OMIM:153670)
Gene: GP1BA
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: Giant platelet syndrome; Bernard-Soulier syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Gene: GP1BA
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: BERNARD-SOULIER SYNDROME (OMIM:231200)
Gene: GP1BA
Phenotype: Ecchymosis (HP:0031364)
Associated disease: BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT (OMIM:153670)
Gene: GP1BA
Phenotype: Ecchymosis (HP:0031364)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: GP1BA
Phenotype: Splenomegaly (HP:0001744)
Associated disease: BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT (OMIM:153670)
Gene: GP1BA
Phenotype: Epistaxis (HP:0000421)
Associated disease: BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT (OMIM:153670)
Gene: GP1BA
Phenotype: Epistaxis (HP:0000421)
Associated disease: BERNARD-SOULIER SYNDROME (OMIM:231200)
Gene: GP1BA
Phenotype: Macroscopic hematuria (HP:0012587)
Associated disease: Giant platelet syndrome; Bernard-Soulier syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Gene: GP1BA
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Giant platelet syndrome; Bernard-Soulier syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Gene: GP1BA
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: GP1BA
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: BERNARD-SOULIER SYNDROME (OMIM:231200)
Gene: GP1BA
Phenotype: Cephalohematoma (HP:0012541)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: GP1BA
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT (OMIM:153670)
Gene: GP1BA
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT (OMIM:153670)
Gene: GP1BA
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BERNARD-SOULIER SYNDROME (OMIM:231200)
Gene: GP1BB
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: GP1BB
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: GP1BB
Phenotype: Retinal arteriolar tortuosity (HP:0001136)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: GP1BB
Phenotype: Meningocele (HP:0002435)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: GP1BB
Phenotype: Bipolar affective disorder (HP:0007302)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: GP1BB
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: GP1BB
Phenotype: Spina bifida (HP:0002414)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: GP1BB
Phenotype: Tetany (HP:0001281)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: GP1BB
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: GP1BB
Phenotype: Seizure (HP:0001250)
Associated disease: Giant platelet syndrome; Bernard-Soulier syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Gene: GP1BB
Phenotype: Seizure (HP:0001250)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: GP1BB
Phenotype: Hypotonia (HP:0001252)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: GP1BB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: GP1BB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: GP1BB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: GP1BB
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: GP1BB
Phenotype: Spontaneous hematomas (HP:0007420)
Associated disease: Giant platelet syndrome; Bernard-Soulier syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Gene: GP1BB
Phenotype: Spontaneous hematomas (HP:0007420)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: GP1BB
Phenotype: Partially duplicated kidney (HP:0008738)
Associated disease: Giant platelet syndrome; Bernard-Soulier syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Gene: GP1BB
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)