TaoMedAI/RareMedData huggingface dataset:
Gene: ALDH4A1
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Chronic fatigue (HP:0012432)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Increased urine alpha-ketoglutarate concentration (HP:0012402)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Vertical supranuclear gaze palsy (HP:0000511)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Dysesthesia (HP:0012534)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: IRS2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: IRS2
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: IRS2
Phenotype: Late onset (HP:0003584)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: IRS2
Phenotype: Increased waist to hip ratio (HP:0031819)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: IRS2
Phenotype: Insulin resistance (HP:0000855)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: EIF3F
Phenotype: Seizure (HP:0001250)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67 (OMIM:618295)
Gene: EIF3F
Phenotype: Hypotonia (HP:0001252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67 (OMIM:618295)
Gene: EIF3F
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67 (OMIM:618295)
Gene: EIF3F
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67 (OMIM:618295)
Gene: EIF3F
Phenotype: Absent speech (HP:0001344)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67 (OMIM:618295)
Gene: EIF3F
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67 (OMIM:618295)
Gene: EIF3F
Phenotype: Infantile onset (HP:0003593)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67 (OMIM:618295)
Gene: EIF3F
Phenotype: Congenital onset (HP:0003577)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67 (OMIM:618295)
Gene: EIF3F
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67 (OMIM:618295)
Gene: EIF3F
Phenotype: Developmental regression (HP:0002376)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67 (OMIM:618295)
Gene: EIF3F
Phenotype: Neonatal onset (HP:0003623)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67 (OMIM:618295)
Gene: EIF3F
Phenotype: Nystagmus (HP:0000639)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67 (OMIM:618295)
Gene: EIF3F
Phenotype: Short stature (HP:0004322)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67 (OMIM:618295)
Gene: EIF3F
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67 (OMIM:618295)
Gene: EIF3F
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67 (OMIM:618295)
Gene: EIF3F
Phenotype: Psychosis (HP:0000709)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67 (OMIM:618295)
Gene: EIF3F
Phenotype: Microcephaly (HP:0000252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67 (OMIM:618295)
Gene: EIF3F
Phenotype: Meningioma (HP:0002858)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67 (OMIM:618295)
Gene: EIF3F
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67 (OMIM:618295)
Gene: EIF3F
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67 (OMIM:618295)
Gene: EIF3F
Phenotype: Strabismus (HP:0000486)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67 (OMIM:618295)
Gene: EIF3F
Phenotype: Pes planus (HP:0001763)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67 (OMIM:618295)
Gene: EIF3F
Phenotype: Coloboma (HP:0000589)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67 (OMIM:618295)
Gene: SLC4A4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION (OMIM:604278)
Gene: SLC4A4
Phenotype: Hyperamylasemia (HP:0410288)
Associated disease: RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION (OMIM:604278)
Gene: SLC4A4
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION (OMIM:604278)
Gene: SLC4A4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION (OMIM:604278)
Gene: SLC4A4
Phenotype: Proximal renal tubular acidosis (HP:0002049)
Associated disease: RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION (OMIM:604278)
Gene: SLC4A4
Phenotype: Decreased serum bicarbonate concentration (HP:0032066)
Associated disease: RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION (OMIM:604278)
Gene: SLC4A4
Phenotype: Bicarbonate-wasting renal tubular acidosis (HP:0004910)
Associated disease: RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION (OMIM:604278)
Gene: SLC4A4
Phenotype: Increased red cell osmotic resistance (HP:0005546)
Associated disease: RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION (OMIM:604278)
Gene: SLC4A4
Phenotype: Impaired renal tubular reabsorption of bicarbonate (HP:4000010)
Associated disease: RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION (OMIM:604278)
Gene: SLC4A4
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION (OMIM:604278)
Gene: SLC4A4
Phenotype: Hyperchloremic acidosis (HP:0001995)
Associated disease: RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION (OMIM:604278)
Gene: SLC4A4
Phenotype: Short stature (HP:0004322)
Associated disease: RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION (OMIM:604278)
Gene: SLC4A4
Phenotype: Childhood onset (HP:0011463)
Associated disease: RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION (OMIM:604278)
Gene: SLC4A4
Phenotype: Growth delay (HP:0001510)
Associated disease: RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION (OMIM:604278)
Gene: SLC4A4
Phenotype: Hypokalemia (HP:0002900)
Associated disease: RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION (OMIM:604278)
Gene: SLC4A4
Phenotype: Early young adult onset (HP:0025708)
Associated disease: RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION (OMIM:604278)
Gene: SLC4A4
Phenotype: Cataract (HP:0000518)
Associated disease: RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION (OMIM:604278)
Gene: SLC4A4
Phenotype: Glaucoma (HP:0000501)
Associated disease: RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION (OMIM:604278)
Gene: SLC4A4
Phenotype: Band keratopathy (HP:0000585)
Associated disease: RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION (OMIM:604278)
Gene: STX16
Phenotype: Brachydactyly (HP:0001156)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB (OMIM:603233)
Gene: STX16
Phenotype: Sporadic (HP:0003745)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB (OMIM:603233)
Gene: STX16
Phenotype: Calcinosis (HP:0003761)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: STX16
Phenotype: Myoclonic spasms (HP:0003739)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: STX16
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: STX16
Phenotype: Laryngeal dystonia (HP:0012049)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: STX16
Phenotype: Cortical subperiosteal resorption of humeral metaphyses (HP:0003909)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: STX16
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB (OMIM:603233)
Gene: STX16
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: STX16
Phenotype: Dyspnea (HP:0002094)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: STX16
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: STX16
Phenotype: Hypocalcemic tetany (HP:0003472)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: STX16
Phenotype: Low urinary cyclic AMP response to PTH administration (HP:0003456)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB (OMIM:603233)
Gene: STX16
Phenotype: Low urinary cyclic AMP response to PTH administration (HP:0003456)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: STX16
Phenotype: Hypocalcemic seizures (HP:0002199)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: STX16
Phenotype: Pituitary resistance to thyroid hormone (HP:0008227)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: STX16
Phenotype: Paresthesia (HP:0003401)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: STX16
Phenotype: Chest pain (HP:0100749)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: STX16
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: STX16
Phenotype: Ectopic calcification (HP:0010766)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: STX16
Phenotype: Nystagmus (HP:0000639)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: STX16
Phenotype: Short metacarpal (HP:0010049)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB (OMIM:603233)
Gene: STX16
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: STX16
Phenotype: Short stature (HP:0004322)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: STX16
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: STX16
Phenotype: Irritability (HP:0000737)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: STX16
Phenotype: Anxiety (HP:0000739)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: STX16
Phenotype: Depression (HP:0000716)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: STX16
Phenotype: Abdominal symptom (HP:0011458)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: STX16
Phenotype: Elevated circulating parathyroid hormone level (HP:0003165)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: STX16
Phenotype: Elevated circulating parathyroid hormone level (HP:0003165)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB (OMIM:603233)
Gene: STX16
Phenotype: Pseudohypoparathyroidism (HP:0000852)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB (OMIM:603233)
Gene: STX16
Phenotype: Pseudohypoparathyroidism (HP:0000852)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: STX16
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: STX16
Phenotype: Increased bone density with cystic changes (HP:0005700)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: STX16
Phenotype: Full cheeks (HP:0000293)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: STX16
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: STX16
Phenotype: Obesity (HP:0001513)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB (OMIM:603233)
Gene: STX16
Phenotype: Hyperphosphatemia (HP:0002905)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: STX16
Phenotype: Hyperphosphatemia (HP:0002905)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB (OMIM:603233)
Gene: STX16
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: STX16
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB (OMIM:603233)
Gene: STX16
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: STX16
Phenotype: Round face (HP:0000311)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: STX16
Phenotype: Prolonged QT interval (HP:0001657)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: STX16
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: STX16
Phenotype: Short neck (HP:0000470)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: STX16
Phenotype: Cataract (HP:0000518)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: STX16
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: STX11
Phenotype: Seizure (HP:0001250)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4 (OMIM:603552)
Gene: STX11
Phenotype: Seizure (HP:0001250)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STX11
Phenotype: Colitis (HP:0002583)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STX11
Phenotype: Hypotonia (HP:0001252)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4 (OMIM:603552)
Gene: STX11
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4 (OMIM:603552)
Gene: STX11
Phenotype: Coma (HP:0001259)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STX11
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STX11
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4 (OMIM:603552)
Gene: STX11
Phenotype: Cholestatic liver disease (HP:0002611)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STX11
Phenotype: Abnormal natural killer cell physiology (HP:0012177)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STX11
Phenotype: Hemophagocytosis (HP:0012156)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STX11
Phenotype: Hemophagocytosis (HP:0012156)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4 (OMIM:603552)
Gene: STX11
Phenotype: Abnormality of multiple cell lineages in the bone marrow (HP:0012145)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STX11
Phenotype: Decreased liver function (HP:0001410)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STX11
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4 (OMIM:603552)
Gene: STX11
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STX11
Phenotype: Abnormality of the respiratory system (HP:0002086)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STX11
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STX11
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4 (OMIM:603552)
Gene: STX11
Phenotype: Hypofibrinogenemia (HP:0011900)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STX11
Phenotype: Hypofibrinogenemia (HP:0011900)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4 (OMIM:603552)
Gene: STX11
Phenotype: Infantile onset (HP:0003593)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4 (OMIM:603552)
Gene: STX11
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4 (OMIM:603552)
Gene: STX11
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STX11
Phenotype: Infectious encephalitis (HP:0002383)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STX11
Phenotype: Erythroderma (HP:0001019)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STX11
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STX11
Phenotype: Fever (HP:0001945)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4 (OMIM:603552)
Gene: STX11
Phenotype: Fever (HP:0001945)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STX11
Phenotype: Recurrent fever (HP:0001954)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4 (OMIM:603552)
Gene: STX11
Phenotype: Anemia (HP:0001903)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4 (OMIM:603552)
Gene: STX11
Phenotype: Anemia (HP:0001903)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STX11
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STX11
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STX11
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STX11
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STX11
Phenotype: Childhood onset (HP:0011463)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4 (OMIM:603552)
Gene: STX11
Phenotype: Increased circulating interleukin 6 concentration (HP:0030783)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STX11
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STX11
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4 (OMIM:603552)
Gene: STX11
Phenotype: Abnormality of the coagulation cascade (HP:0003256)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STX11
Phenotype: Purpura (HP:0000979)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STX11
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STX11
Phenotype: Skin rash (HP:0000988)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STX11
Phenotype: Skin rash (HP:0000988)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4 (OMIM:603552)
Gene: STX11
Phenotype: Jaundice (HP:0000952)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4 (OMIM:603552)
Gene: STX11
Phenotype: Jaundice (HP:0000952)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STX11
Phenotype: Edema (HP:0000969)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4 (OMIM:603552)
Gene: STX11
Phenotype: Petechiae (HP:0000967)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STX11
Phenotype: Maculopapular exanthema (HP:0040186)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STX11
Phenotype: CSF pleocytosis (HP:0012229)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STX11
Phenotype: Abnormal renal physiology (HP:0012211)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STX11
Phenotype: Ecchymosis (HP:0031364)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STX11
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STX11
Phenotype: Immune dysregulation (HP:0002958)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STX11
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STX11
Phenotype: Abnormality of tumor necrosis factor secretion (HP:0011118)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STX11
Phenotype: Abnormal skin morphology (HP:0011121)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STX11
Phenotype: Abnormal circulating cytokine concentration (HP:0011112)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STX11
Phenotype: Splenomegaly (HP:0001744)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4 (OMIM:603552)
Gene: STX11
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STX11
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4 (OMIM:603552)
Gene: STX11
Phenotype: Increased circulating interferon-gamma concentration (HP:0030356)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STX11
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4 (OMIM:603552)
Gene: STX11
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STX11
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4 (OMIM:603552)
Gene: STX11
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)