TaoMedAI/RareMedData huggingface dataset:
Gene: PTPN22
Phenotype: Abdominal aortic aneurysm (HP:0005112)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: PTPN22
Phenotype: Arthralgia (HP:0002829)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Arthralgia (HP:0002829)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: PTPN22
Phenotype: Arthralgia (HP:0002829)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Arthralgia (HP:0002829)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: PTPN22
Phenotype: Knee osteoarthritis (HP:0005086)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: PTPN22
Phenotype: Knee osteoarthritis (HP:0005086)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: PTPN22
Phenotype: CSF pleocytosis (HP:0012229)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: PTPN22
Phenotype: Sinusitis (HP:0000246)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Mild postnatal growth retardation (HP:0001530)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: PTPN22
Phenotype: Glossitis (HP:0000206)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: PTPN22
Phenotype: Chronic pulmonary obstruction (HP:0006510)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Anterior chamber synechiae (HP:0007833)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: PTPN22
Phenotype: Fatigue (HP:0012378)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Fatigue (HP:0012378)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Fatigue (HP:0012378)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: PTPN22
Phenotype: Fatigue (HP:0012378)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PTPN22
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Otitis media (HP:0000388)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Gastrointestinal infarctions (HP:0005244)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Impaired mastication (HP:0005216)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Intestinal obstruction (HP:0005214)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Recurrent intrapulmonary hemorrhage (HP:0006535)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Subglottic stenosis (HP:0001607)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Rheumatoid factor positive (HP:0002923)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: PTPN22
Phenotype: Synovial lining hyperplasia (HP:0005186)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: PTPN22
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Tinnitus (HP:0000360)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: PTPN22
Phenotype: Abnormality of the nose (HP:0000366)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Angina pectoris (HP:0001681)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: PTPN22
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Autoimmunity (HP:0002960)
Associated disease: TYPE 1 DIABETES MELLITUS (OMIM:222100)
Gene: PTPN22
Phenotype: Jaw claudication (HP:0030164)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Granulomatosis (HP:0002955)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Ocular hypertension (HP:0007906)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: PTPN22
Phenotype: Abnormal eyelash morphology (HP:0000499)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: PTPN22
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: PTPN22
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Pancreatitis (HP:0001733)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Pericarditis (HP:0001701)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Pericarditis (HP:0001701)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Pericarditis (HP:0001701)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: PTPN22
Phenotype: Keratitis (HP:0000491)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Low-grade fever (HP:0011134)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: PTPN22
Phenotype: Retinopathy (HP:0000488)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Retinopathy (HP:0000488)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PTPN22
Phenotype: Abnormal circulating interleukin concentration (HP:0011117)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: PTPN22
Phenotype: Ankle swelling (HP:0001785)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: PTPN22
Phenotype: Epistaxis (HP:0000421)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Epistaxis (HP:0000421)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Increased alpha-globulin (HP:0005413)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Decreased circulating complement C3 concentration (HP:0005421)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PTPN22
Phenotype: Cataract (HP:0000518)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: PTPN22
Phenotype: Cataract (HP:0000518)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: PTPN22
Phenotype: Proptosis (HP:0000520)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Weight loss (HP:0001824)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Weight loss (HP:0001824)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: PTPN22
Phenotype: Weight loss (HP:0001824)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Weight loss (HP:0001824)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: PTPN22
Phenotype: Weight loss (HP:0001824)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PTPN22
Phenotype: Ptosis (HP:0000508)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Visual impairment (HP:0000505)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Visual impairment (HP:0000505)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Visual impairment (HP:0000505)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: PTPN22
Phenotype: Abnormal metatarsal morphology (HP:0001832)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: PTPN22
Phenotype: Glaucoma (HP:0000501)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: PTPN22
Phenotype: Glaucoma (HP:0000501)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: PTPN22
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Band keratopathy (HP:0000585)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: PTPN22
Phenotype: Increased circulating interferon-gamma concentration (HP:0030356)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: PTPN22
Phenotype: Nasolacrimal duct obstruction (HP:0000579)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: PTPN22
Phenotype: Uveitis (HP:0000554)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: PTPN22
Phenotype: Uveitis (HP:0000554)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: PTPN22
Phenotype: Uveitis (HP:0000554)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: PTPN22
Phenotype: Visual loss (HP:0000572)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Visual loss (HP:0000572)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: PTPN22
Phenotype: Abnormality of thrombocytes (HP:0001872)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Retinal detachment (HP:0000541)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: PTPN22
Phenotype: Abnormal eyebrow morphology (HP:0000534)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: PTPN22
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PTPN22
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: PTPN22
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PTPN22
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: PTPN22
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PTPN22
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: FBXL3
Phenotype: Poor speech (HP:0002465)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS (OMIM:606220)
Gene: FBXL3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS (OMIM:606220)
Gene: FBXL3
Phenotype: Dysarthria (HP:0001260)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS (OMIM:606220)
Gene: FBXL3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS (OMIM:606220)
Gene: FBXL3
Phenotype: Joint dislocation (HP:0001373)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS (OMIM:606220)
Gene: FBXL3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS (OMIM:606220)
Gene: FBXL3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS (OMIM:606220)
Gene: FBXL3
Phenotype: Infantile onset (HP:0003593)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS (OMIM:606220)
Gene: FBXL3
Phenotype: Short 4th metacarpal (HP:0010044)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS (OMIM:606220)
Gene: FBXL3
Phenotype: Short stature (HP:0004322)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS (OMIM:606220)
Gene: FBXL3
Phenotype: Sleep-wake cycle disturbance (HP:0006979)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS (OMIM:606220)
Gene: FBXL3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS (OMIM:606220)
Gene: FBXL3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS (OMIM:606220)
Gene: FBXL3
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS (OMIM:606220)
Gene: FBXL3
Phenotype: Short clavicles (HP:0000894)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS (OMIM:606220)
Gene: FBXL3
Phenotype: Microcephaly (HP:0000252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS (OMIM:606220)
Gene: FBXL3
Phenotype: High palate (HP:0000218)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS (OMIM:606220)
Gene: FBXL3
Phenotype: Microretrognathia (HP:0000308)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS (OMIM:606220)
Gene: FBXL3
Phenotype: Strabismus (HP:0000486)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS (OMIM:606220)
Gene: FBXL3
Phenotype: Prominent nose (HP:0000448)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS (OMIM:606220)
Gene: FBXL3
Phenotype: Bulbous nose (HP:0000414)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS (OMIM:606220)
Gene: FBXL3
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS (OMIM:606220)
Gene: FBXL3
Phenotype: Ptosis (HP:0000508)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS (OMIM:606220)
Gene: PHGDH
Phenotype: Adducted thumb (HP:0001181)
Associated disease: PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY (OMIM:601815)
Gene: PHGDH
Phenotype: Adducted thumb (HP:0001181)
Associated disease: PHGDH deficiency, infantile/juvenile form; 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (ORPHA:79351)
Gene: PHGDH
Phenotype: Short umbilical cord (HP:0001196)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Developmental stagnation (HP:0007281)
Associated disease: PHGDH deficiency, infantile/juvenile form; 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (ORPHA:79351)
Gene: PHGDH
Phenotype: Cerebral dysmyelination (HP:0007266)
Associated disease: PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY (OMIM:601815)
Gene: PHGDH
Phenotype: Spina bifida (HP:0002414)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHGDH
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHGDH
Phenotype: Long fingers (HP:0100807)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Hypertonia (HP:0001276)
Associated disease: PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY (OMIM:601815)
Gene: PHGDH
Phenotype: Hypertonia (HP:0001276)
Associated disease: PHGDH deficiency, infantile/juvenile form; 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (ORPHA:79351)
Gene: PHGDH
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Seizure (HP:0001250)
Associated disease: PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY (OMIM:601815)
Gene: PHGDH
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY (OMIM:601815)
Gene: PHGDH
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Spasticity (HP:0001257)
Associated disease: PHGDH deficiency, infantile/juvenile form; 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (ORPHA:79351)
Gene: PHGDH
Phenotype: Generalized edema (HP:0007430)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY (OMIM:601815)
Gene: PHGDH
Phenotype: Abnormal cortical gyration (HP:0002536)
Associated disease: PHGDH deficiency, infantile/juvenile form; 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (ORPHA:79351)
Gene: PHGDH
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY (OMIM:601815)
Gene: PHGDH
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHGDH
Phenotype: Stillbirth (HP:0003826)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: PHGDH deficiency, infantile/juvenile form; 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (ORPHA:79351)
Gene: PHGDH
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY (OMIM:601815)
Gene: PHGDH
Phenotype: Neonatal death (HP:0003811)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: PHGDH deficiency, infantile/juvenile form; 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (ORPHA:79351)
Gene: PHGDH
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHGDH
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Yellow subcutaneous tissue covered by thin, scaly skin (HP:0007525)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Generalized ichthyosis (HP:0007503)
Associated disease: PHGDH deficiency, infantile/juvenile form; 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (ORPHA:79351)
Gene: PHGDH
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHGDH
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Lissencephaly (HP:0001339)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)