TaoMedAI/RareMedData huggingface dataset:
Gene: TGDS
Phenotype: Micrognathia (HP:0000347)
Associated disease: Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome; Palatodigital syndrome, Catel-Manzke type; Micrognathia digital syndrome; Index finger anomaly-Pierre Robin syndrome; Pierre Robin sequence-hyperphalangy-clinodactyly syndrome; Catel-Manzke syndrome; Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome (ORPHA:1388)
Gene: TGDS
Phenotype: Dextrocardia (HP:0001651)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome; Palatodigital syndrome, Catel-Manzke type; Micrognathia digital syndrome; Index finger anomaly-Pierre Robin syndrome; Pierre Robin sequence-hyperphalangy-clinodactyly syndrome; Catel-Manzke syndrome; Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome (ORPHA:1388)
Gene: TGDS
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome; Palatodigital syndrome, Catel-Manzke type; Micrognathia digital syndrome; Index finger anomaly-Pierre Robin syndrome; Pierre Robin sequence-hyperphalangy-clinodactyly syndrome; Catel-Manzke syndrome; Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome (ORPHA:1388)
Gene: TGDS
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome; Palatodigital syndrome, Catel-Manzke type; Micrognathia digital syndrome; Index finger anomaly-Pierre Robin syndrome; Pierre Robin sequence-hyperphalangy-clinodactyly syndrome; Catel-Manzke syndrome; Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome (ORPHA:1388)
Gene: TGDS
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGDS
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Narrow nose (HP:0000460)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Short neck (HP:0000470)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGDS
Phenotype: Proptosis (HP:0000520)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Short toe (HP:0001831)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Nasolacrimal duct obstruction (HP:0000579)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Hyperphalangy of the 2nd finger (HP:0030368)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HEY2
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: HEY2
Phenotype: Stroke (HP:0001297)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: HEY2
Phenotype: Tall stature (HP:0000098)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: HEY2
Phenotype: Pregnancy history (HP:0002686)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: HEY2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: HEY2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: HEY2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: HEY2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: HEY2
Phenotype: Aortic dissection (HP:0002647)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: HEY2
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: HEY2
Phenotype: Carotid artery dilatation (HP:0012163)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: HEY2
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: HEY2
Phenotype: Ischemic stroke (HP:0002140)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: HEY2
Phenotype: Subarachnoid hemorrhage (HP:0002138)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: HEY2
Phenotype: Pneumothorax (HP:0002107)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: HEY2
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: HEY2
Phenotype: Abnormality of connective tissue (HP:0003549)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: HEY2
Phenotype: Mucoid extracellular matrix accumulation (HP:0200146)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: HEY2
Phenotype: Dural ectasia (HP:0100775)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: HEY2
Phenotype: Chest pain (HP:0100749)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: HEY2
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: HEY2
Phenotype: Descending thoracic aorta aneurysm (HP:0004959)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: HEY2
Phenotype: Ascending aortic dissection (HP:0004933)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: HEY2
Phenotype: Peripheral arterial stenosis (HP:0004950)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: HEY2
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: HEY2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: HEY2
Phenotype: Abnormal sternum morphology (HP:0000766)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: HEY2
Phenotype: Paroxysmal dyspnea (HP:0012763)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: HEY2
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: HEY2
Phenotype: Hypertension (HP:0000822)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: HEY2
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: HEY2
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: HEY2
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: HEY2
Phenotype: Retrognathia (HP:0000278)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: HEY2
Phenotype: Abdominal aortic aneurysm (HP:0005112)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: HEY2
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: HEY2
Phenotype: Abnormal left ventricular function (HP:0005162)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: HEY2
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: HEY2
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: HEY2
Phenotype: Coronary artery atherosclerosis (HP:0001677)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: HEY2
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: HEY2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: HEY2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: HEY2
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: HEY2
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: HEY2
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: HEY2
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: HEY2
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: HEY2
Phenotype: Aborted sudden cardiac death (HP:0031628)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: HEY2
Phenotype: Descending aortic dissection (HP:0012499)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: HEY2
Phenotype: Polymorphic and polytopic ventricular extrasystoles (HP:0006696)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: HEY2
Phenotype: Hypovolemia (HP:0011106)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: HEY2
Phenotype: Pes planus (HP:0001763)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: HEY2
Phenotype: Abnormality iris morphology (HP:0000525)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: HEY2
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TNFRSF13B
Phenotype: Meningitis (HP:0001287)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: TNFRSF13B
Phenotype: Partial absence of specific antibody response to unconjugated pneumococcus vaccine (HP:0410301)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: TNFRSF13B
Phenotype: Neoplasm (HP:0002664)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: TNFRSF13B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: TNFRSF13B
Phenotype: Lymphoma (HP:0002665)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: TNFRSF13B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: TNFRSF13B
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: TNFRSF13B
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: TNFRSF13B
Phenotype: Follicular hyperplasia (HP:0002729)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: TNFRSF13B
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: TNFRSF13B
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: IMMUNOGLOBULIN A DEFICIENCY 2 (OMIM:609529)
Gene: TNFRSF13B
Phenotype: Diarrhea (HP:0002014)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: TNFRSF13B
Phenotype: Recurrent infection of the gastrointestinal tract (HP:0004798)
Associated disease: IMMUNOGLOBULIN A DEFICIENCY 2 (OMIM:609529)
Gene: TNFRSF13B
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: TNFRSF13B
Phenotype: Abnormality of T cell physiology (HP:0011840)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: TNFRSF13B
Phenotype: Abnormal T cell count (HP:0011839)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: TNFRSF13B
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: TNFRSF13B
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: TNFRSF13B
Phenotype: Abnormal lymphocyte morphology (HP:0004332)
Associated disease: IMMUNOGLOBULIN A DEFICIENCY 2 (OMIM:609529)
Gene: TNFRSF13B
Phenotype: Recurrent bronchitis (HP:0002837)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: TNFRSF13B
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: TNFRSF13B
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: TNFRSF13B
Phenotype: Autoimmunity (HP:0002960)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: TNFRSF13B
Phenotype: Autoimmunity (HP:0002960)
Associated disease: IMMUNOGLOBULIN A DEFICIENCY 2 (OMIM:609529)
Gene: TNFRSF13B
Phenotype: Combined immunodeficiency (HP:0005387)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: TNFRSF13B
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: TNFRSF13B
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: TNFRSF13B
Phenotype: Splenomegaly (HP:0001744)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: TNFRSF13B
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: IMMUNOGLOBULIN A DEFICIENCY 2 (OMIM:609529)
Gene: TNFRSF13B
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: HAAO
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HAAO
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HAAO
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Intellectual disability (HP:0001249)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 (OMIM:617660)
Gene: HAAO
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Global developmental delay (HP:0001263)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 (OMIM:617660)
Gene: HAAO
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HAAO
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 (OMIM:617660)
Gene: HAAO
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 (OMIM:617660)
Gene: HAAO
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HAAO
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HAAO
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 (OMIM:617660)
Gene: HAAO
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HAAO
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HAAO
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HAAO
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Bifid uvula (HP:0000193)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 (OMIM:617660)
Gene: HAAO
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 (OMIM:617660)
Gene: HAAO
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Butterfly vertebrae (HP:0003316)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 (OMIM:617660)
Gene: HAAO
Phenotype: Laryngeal web (HP:0005950)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 (OMIM:617660)
Gene: HAAO
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HAAO
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Tethered cord (HP:0002144)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 (OMIM:617660)
Gene: HAAO
Phenotype: Congenital onset (HP:0003577)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 (OMIM:617660)
Gene: HAAO
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)