TaoMedAI/RareMedData huggingface dataset:
Gene: RAX2
Phenotype: Macular degeneration (HP:0000608)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 6 (OMIM:613757)
Gene: RAX2
Phenotype: Central scotoma (HP:0000603)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RAX2
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RAX2
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RAX2
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RAX2
Phenotype: Perifoveal ring of hyperautofluorescence (HP:0030629)
Associated disease: RETINITIS PIGMENTOSA 95 (OMIM:620102)
Gene: RAX2
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RAX2
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 95 (OMIM:620102)
Gene: RAX2
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RAX2
Phenotype: Bull's eye maculopathy (HP:0011504)
Associated disease: CONE-ROD DYSTROPHY 11 (OMIM:610381)
Gene: RAX2
Phenotype: Pallor (HP:0000980)
Associated disease: CONE-ROD DYSTROPHY 11 (OMIM:610381)
Gene: RAX2
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RAX2
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 95 (OMIM:620102)
Gene: RAX2
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RAX2
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RAX2
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RAX2
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 95 (OMIM:620102)
Gene: RAX2
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RAX2
Phenotype: Slow decrease in visual acuity (HP:0007924)
Associated disease: CONE-ROD DYSTROPHY 11 (OMIM:610381)
Gene: RAX2
Phenotype: Late young adult onset (HP:0025710)
Associated disease: RETINITIS PIGMENTOSA 95 (OMIM:620102)
Gene: RAX2
Phenotype: Metamorphopsia (HP:0012508)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RAX2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RAX2
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RAX2
Phenotype: Visual impairment (HP:0000505)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RAX2
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RAX2
Phenotype: Color vision defect (HP:0000551)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RAX2
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: CONE-ROD DYSTROPHY 11 (OMIM:610381)
Gene: RAX2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RAX2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 95 (OMIM:620102)
Gene: RAX2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RAX2
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HPDL
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619026)
Gene: HPDL
Phenotype: Motor delay (HP:0001270)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619026)
Gene: HPDL
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619026)
Gene: HPDL
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619026)
Gene: HPDL
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619026)
Gene: HPDL
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE (OMIM:619027)
Gene: HPDL
Phenotype: Axial dystonia (HP:0002530)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619026)
Gene: HPDL
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619026)
Gene: HPDL
Phenotype: Flexion contracture (HP:0001371)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619026)
Gene: HPDL
Phenotype: Urinary urgency (HP:0000012)
Associated disease: SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE (OMIM:619027)
Gene: HPDL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619026)
Gene: HPDL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE (OMIM:619027)
Gene: HPDL
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619026)
Gene: HPDL
Phenotype: Myalgia (HP:0003326)
Associated disease: SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE (OMIM:619027)
Gene: HPDL
Phenotype: Dysphagia (HP:0002015)
Associated disease: SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE (OMIM:619027)
Gene: HPDL
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE (OMIM:619027)
Gene: HPDL
Phenotype: Muscle spasm (HP:0003394)
Associated disease: SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE (OMIM:619027)
Gene: HPDL
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619026)
Gene: HPDL
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE (OMIM:619027)
Gene: HPDL
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619026)
Gene: HPDL
Phenotype: Decreased sensory nerve conduction velocity (HP:0003448)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619026)
Gene: HPDL
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619026)
Gene: HPDL
Phenotype: Paresthesia (HP:0003401)
Associated disease: SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE (OMIM:619027)
Gene: HPDL
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619026)
Gene: HPDL
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619026)
Gene: HPDL
Phenotype: Respiratory failure requiring assisted ventilation (HP:0004887)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619026)
Gene: HPDL
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619026)
Gene: HPDL
Phenotype: Esodeviation (HP:0020045)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619026)
Gene: HPDL
Phenotype: Exodeviation (HP:0020049)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619026)
Gene: HPDL
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE (OMIM:619027)
Gene: HPDL
Phenotype: Developmental regression (HP:0002376)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619026)
Gene: HPDL
Phenotype: Progressive (HP:0003676)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619026)
Gene: HPDL
Phenotype: Progressive (HP:0003676)
Associated disease: SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE (OMIM:619027)
Gene: HPDL
Phenotype: Unsteady gait (HP:0002317)
Associated disease: SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE (OMIM:619027)
Gene: HPDL
Phenotype: Neonatal onset (HP:0003623)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619026)
Gene: HPDL
Phenotype: Drooling (HP:0002307)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619026)
Gene: HPDL
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE (OMIM:619027)
Gene: HPDL
Phenotype: Nystagmus (HP:0000639)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619026)
Gene: HPDL
Phenotype: Elevated brain lactate level by MRS (HP:0012707)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619026)
Gene: HPDL
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619026)
Gene: HPDL
Phenotype: Retrognathia (HP:0000278)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619026)
Gene: HPDL
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619026)
Gene: HPDL
Phenotype: High palate (HP:0000218)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619026)
Gene: HPDL
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619026)
Gene: HPDL
Phenotype: Growth delay (HP:0001510)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619026)
Gene: HPDL
Phenotype: Long philtrum (HP:0000343)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619026)
Gene: HPDL
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619026)
Gene: HPDL
Phenotype: Anteverted nares (HP:0000463)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619026)
Gene: HPDL
Phenotype: Short neck (HP:0000470)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619026)
Gene: HPDL
Phenotype: Long eyelashes (HP:0000527)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619026)
Gene: HPDL
Phenotype: Visual impairment (HP:0000505)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619026)
Gene: HPDL
Phenotype: Esotropia (HP:0000565)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619026)
Gene: HPDL
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619026)
Gene: HAVCR2
Phenotype: Chills (HP:0025143)
Associated disease: Subcutaneous panniculitic T-cell lymphoma; Subcutaneous panniculitis-like T-cell lymphoma; SPTCL (ORPHA:86884)
Gene: HAVCR2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE (OMIM:618398)
Gene: HAVCR2
Phenotype: Erythematous plaque (HP:0025474)
Associated disease: Subcutaneous panniculitic T-cell lymphoma; Subcutaneous panniculitis-like T-cell lymphoma; SPTCL (ORPHA:86884)
Gene: HAVCR2
Phenotype: Hemophagocytosis (HP:0012156)
Associated disease: Subcutaneous panniculitic T-cell lymphoma; Subcutaneous panniculitis-like T-cell lymphoma; SPTCL (ORPHA:86884)
Gene: HAVCR2
Phenotype: Hemophagocytosis (HP:0012156)
Associated disease: T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE (OMIM:618398)
Gene: HAVCR2
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Subcutaneous panniculitic T-cell lymphoma; Subcutaneous panniculitis-like T-cell lymphoma; SPTCL (ORPHA:86884)
Gene: HAVCR2
Phenotype: Subcutaneous panniculitis-like T-cell lymphoma (HP:0034403)
Associated disease: T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE (OMIM:618398)
Gene: HAVCR2
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE (OMIM:618398)
Gene: HAVCR2
Phenotype: Hypofibrinogenemia (HP:0011900)
Associated disease: T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE (OMIM:618398)
Gene: HAVCR2
Phenotype: Middle age onset (HP:0003596)
Associated disease: T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE (OMIM:618398)
Gene: HAVCR2
Phenotype: Late onset (HP:0003584)
Associated disease: T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE (OMIM:618398)
Gene: HAVCR2
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Subcutaneous panniculitic T-cell lymphoma; Subcutaneous panniculitis-like T-cell lymphoma; SPTCL (ORPHA:86884)
Gene: HAVCR2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE (OMIM:618398)
Gene: HAVCR2
Phenotype: Fever (HP:0001945)
Associated disease: T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE (OMIM:618398)
Gene: HAVCR2
Phenotype: Fever (HP:0001945)
Associated disease: Subcutaneous panniculitic T-cell lymphoma; Subcutaneous panniculitis-like T-cell lymphoma; SPTCL (ORPHA:86884)
Gene: HAVCR2
Phenotype: Anemia (HP:0001903)
Associated disease: T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE (OMIM:618398)
Gene: HAVCR2
Phenotype: Childhood onset (HP:0011463)
Associated disease: T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE (OMIM:618398)
Gene: HAVCR2
Phenotype: Young adult onset (HP:0011462)
Associated disease: T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE (OMIM:618398)
Gene: HAVCR2
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE (OMIM:618398)
Gene: HAVCR2
Phenotype: Abnormality of the coagulation cascade (HP:0003256)
Associated disease: Subcutaneous panniculitic T-cell lymphoma; Subcutaneous panniculitis-like T-cell lymphoma; SPTCL (ORPHA:86884)
Gene: HAVCR2
Phenotype: Facial edema (HP:0000282)
Associated disease: T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE (OMIM:618398)
Gene: HAVCR2
Phenotype: Fatigue (HP:0012378)
Associated disease: Subcutaneous panniculitic T-cell lymphoma; Subcutaneous panniculitis-like T-cell lymphoma; SPTCL (ORPHA:86884)
Gene: HAVCR2
Phenotype: Autoimmunity (HP:0002960)
Associated disease: T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE (OMIM:618398)
Gene: HAVCR2
Phenotype: Panniculitis (HP:0012490)
Associated disease: T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE (OMIM:618398)
Gene: HAVCR2
Phenotype: Panniculitis (HP:0012490)
Associated disease: Subcutaneous panniculitic T-cell lymphoma; Subcutaneous panniculitis-like T-cell lymphoma; SPTCL (ORPHA:86884)
Gene: HAVCR2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE (OMIM:618398)
Gene: HAVCR2
Phenotype: Weight loss (HP:0001824)
Associated disease: Subcutaneous panniculitic T-cell lymphoma; Subcutaneous panniculitis-like T-cell lymphoma; SPTCL (ORPHA:86884)
Gene: HAVCR2
Phenotype: Erythematous papule (HP:0030350)
Associated disease: Subcutaneous panniculitic T-cell lymphoma; Subcutaneous panniculitis-like T-cell lymphoma; SPTCL (ORPHA:86884)
Gene: HAVCR2
Phenotype: Pancytopenia (HP:0001876)
Associated disease: T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE (OMIM:618398)
Gene: ORAI1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: IMMUNODEFICIENCY 9 (OMIM:612782)
Gene: ORAI1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MYOPATHY, TUBULAR AGGREGATE, 2 (OMIM:615883)
Gene: ORAI1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: IMMUNODEFICIENCY 9 (OMIM:612782)
Gene: ORAI1
Phenotype: Hypotonia (HP:0001252)
Associated disease: IMMUNODEFICIENCY 9 (OMIM:612782)
Gene: ORAI1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: IMMUNODEFICIENCY 9 (OMIM:612782)
Gene: ORAI1
Phenotype: Falls (HP:0002527)
Associated disease: MYOPATHY, TUBULAR AGGREGATE, 2 (OMIM:615883)
Gene: ORAI1
Phenotype: Areflexia of lower limbs (HP:0002522)
Associated disease: MYOPATHY, TUBULAR AGGREGATE, 2 (OMIM:615883)
Gene: ORAI1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MYOPATHY, TUBULAR AGGREGATE, 2 (OMIM:615883)
Gene: ORAI1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 9 (OMIM:612782)
Gene: ORAI1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYOPATHY, TUBULAR AGGREGATE, 2 (OMIM:615883)
Gene: ORAI1
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: IMMUNODEFICIENCY 9 (OMIM:612782)
Gene: ORAI1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: IMMUNODEFICIENCY 9 (OMIM:612782)
Gene: ORAI1
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: IMMUNODEFICIENCY 9 (OMIM:612782)
Gene: ORAI1
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY 9 (OMIM:612782)
Gene: ORAI1
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: IMMUNODEFICIENCY 9 (OMIM:612782)
Gene: ORAI1
Phenotype: Myalgia (HP:0003326)
Associated disease: Tubular aggregate myopathy (ORPHA:2593)
Gene: ORAI1
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: MYOPATHY, TUBULAR AGGREGATE, 2 (OMIM:615883)
Gene: ORAI1
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: MYOPATHY, TUBULAR AGGREGATE, 2 (OMIM:615883)
Gene: ORAI1
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Tubular aggregate myopathy (ORPHA:2593)
Gene: ORAI1
Phenotype: Gowers sign (HP:0003391)
Associated disease: IMMUNODEFICIENCY 9 (OMIM:612782)
Gene: ORAI1
Phenotype: Heat intolerance (HP:0002046)
Associated disease: IMMUNODEFICIENCY 9 (OMIM:612782)
Gene: ORAI1
Phenotype: Fatigable weakness (HP:0003473)
Associated disease: Tubular aggregate myopathy (ORPHA:2593)
Gene: ORAI1
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Tubular aggregate myopathy (ORPHA:2593)
Gene: ORAI1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Thrombocytopathy-asplenia-miosis syndrome; Stormorken-Sjaastad-Langslet syndrome; Stormorken syndrome (ORPHA:3204)
Gene: ORAI1
Phenotype: Congenital onset (HP:0003577)
Associated disease: IMMUNODEFICIENCY 9 (OMIM:612782)
Gene: ORAI1
Phenotype: Type 2 muscle fiber atrophy (HP:0003554)
Associated disease: Tubular aggregate myopathy (ORPHA:2593)
Gene: ORAI1
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: Tubular aggregate myopathy (ORPHA:2593)
Gene: ORAI1
Phenotype: BCGitis (HP:0020086)
Associated disease: IMMUNODEFICIENCY 9 (OMIM:612782)
Gene: ORAI1
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: Tubular aggregate myopathy (ORPHA:2593)
Gene: ORAI1
Phenotype: Slowly progressive (HP:0003677)
Associated disease: MYOPATHY, TUBULAR AGGREGATE, 2 (OMIM:615883)
Gene: ORAI1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MYOPATHY, TUBULAR AGGREGATE, 2 (OMIM:615883)
Gene: ORAI1
Phenotype: Miosis (HP:0000616)
Associated disease: Thrombocytopathy-asplenia-miosis syndrome; Stormorken-Sjaastad-Langslet syndrome; Stormorken syndrome (ORPHA:3204)
Gene: ORAI1
Phenotype: Miosis (HP:0000616)
Associated disease: MYOPATHY, TUBULAR AGGREGATE, 2 (OMIM:615883)
Gene: ORAI1
Phenotype: Recurrent fever (HP:0001954)
Associated disease: IMMUNODEFICIENCY 9 (OMIM:612782)
Gene: ORAI1
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: Thrombocytopathy-asplenia-miosis syndrome; Stormorken-Sjaastad-Langslet syndrome; Stormorken syndrome (ORPHA:3204)
Gene: ORAI1
Phenotype: Anemia (HP:0001903)
Associated disease: Thrombocytopathy-asplenia-miosis syndrome; Stormorken-Sjaastad-Langslet syndrome; Stormorken syndrome (ORPHA:3204)
Gene: ORAI1
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: MYOPATHY, TUBULAR AGGREGATE, 2 (OMIM:615883)
Gene: ORAI1
Phenotype: Short stature (HP:0004322)
Associated disease: Thrombocytopathy-asplenia-miosis syndrome; Stormorken-Sjaastad-Langslet syndrome; Stormorken syndrome (ORPHA:3204)
Gene: ORAI1
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: IMMUNODEFICIENCY 9 (OMIM:612782)
Gene: ORAI1
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: Thrombocytopathy-asplenia-miosis syndrome; Stormorken-Sjaastad-Langslet syndrome; Stormorken syndrome (ORPHA:3204)
Gene: ORAI1
Phenotype: Amelogenesis imperfecta (HP:0000705)
Associated disease: IMMUNODEFICIENCY 9 (OMIM:612782)
Gene: ORAI1
Phenotype: Childhood onset (HP:0011463)
Associated disease: MYOPATHY, TUBULAR AGGREGATE, 2 (OMIM:615883)
Gene: ORAI1
Phenotype: Hypoplasia of the thymus (HP:0000778)
Associated disease: IMMUNODEFICIENCY 9 (OMIM:612782)
Gene: ORAI1
Phenotype: Myopathy (HP:0003198)
Associated disease: IMMUNODEFICIENCY 9 (OMIM:612782)
Gene: ORAI1
Phenotype: Muscle fiber tubular inclusions (HP:0100301)
Associated disease: Tubular aggregate myopathy (ORPHA:2593)
Gene: ORAI1
Phenotype: Stomatitis (HP:0010280)
Associated disease: IMMUNODEFICIENCY 9 (OMIM:612782)
Gene: ORAI1
Phenotype: Abnormal total natural killer cell count (HP:0040089)
Associated disease: IMMUNODEFICIENCY 9 (OMIM:612782)
Gene: ORAI1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MYOPATHY, TUBULAR AGGREGATE, 2 (OMIM:615883)
Gene: ORAI1
Phenotype: Purpura (HP:0000979)
Associated disease: Thrombocytopathy-asplenia-miosis syndrome; Stormorken-Sjaastad-Langslet syndrome; Stormorken syndrome (ORPHA:3204)
Gene: ORAI1
Phenotype: Ectodermal dysplasia (HP:0000968)
Associated disease: IMMUNODEFICIENCY 9 (OMIM:612782)
Gene: ORAI1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Thrombocytopathy-asplenia-miosis syndrome; Stormorken-Sjaastad-Langslet syndrome; Stormorken syndrome (ORPHA:3204)
Gene: ORAI1
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: MYOPATHY, TUBULAR AGGREGATE, 2 (OMIM:615883)
Gene: ORAI1
Phenotype: Death in infancy (HP:0001522)
Associated disease: IMMUNODEFICIENCY 9 (OMIM:612782)
Gene: ORAI1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: IMMUNODEFICIENCY 9 (OMIM:612782)
Gene: ORAI1
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: IMMUNODEFICIENCY 9 (OMIM:612782)
Gene: ORAI1
Phenotype: Fatiguable weakness of proximal limb muscles (HP:0030200)
Associated disease: Tubular aggregate myopathy (ORPHA:2593)
Gene: ORAI1
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: MYOPATHY, TUBULAR AGGREGATE, 2 (OMIM:615883)
Gene: ORAI1
Phenotype: High forehead (HP:0000348)
Associated disease: Thrombocytopathy-asplenia-miosis syndrome; Stormorken-Sjaastad-Langslet syndrome; Stormorken syndrome (ORPHA:3204)