TaoMedAI/RareMedData huggingface dataset:
Gene: CIITA
Phenotype: Sclerosing cholangitis (HP:0030991)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: CIITA
Phenotype: Diarrhea (HP:0002014)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: CIITA
Phenotype: Gait ataxia (HP:0002066)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: CIITA
Phenotype: Recurrent infection of the gastrointestinal tract (HP:0004798)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: CIITA
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: CIITA
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: CIITA
Phenotype: Chronic hepatitis due to cryptosporidium infection (HP:0200124)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: CIITA
Phenotype: Chronic lymphocytic meningitis (HP:0007041)
Associated disease: BARE LYMPHOCYTE SYNDROME, TYPE II (OMIM:209920)
Gene: CIITA
Phenotype: Infectious encephalitis (HP:0002383)
Associated disease: BARE LYMPHOCYTE SYNDROME, TYPE II (OMIM:209920)
Gene: CIITA
Phenotype: Biliary tract abnormality (HP:0001080)
Associated disease: BARE LYMPHOCYTE SYNDROME, TYPE II (OMIM:209920)
Gene: CIITA
Phenotype: Autoimmune thrombocytopenia (HP:0001973)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: CIITA
Phenotype: Fever (HP:0001945)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: CIITA
Phenotype: Autoimmune neutropenia (HP:0001904)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: CIITA
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: CIITA
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: CIITA
Phenotype: Protracted diarrhea (HP:0004385)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: CIITA
Phenotype: Protracted diarrhea (HP:0004385)
Associated disease: BARE LYMPHOCYTE SYNDROME, TYPE II (OMIM:209920)
Gene: CIITA
Phenotype: Villous atrophy (HP:0011473)
Associated disease: BARE LYMPHOCYTE SYNDROME, TYPE II (OMIM:209920)
Gene: CIITA
Phenotype: Polyarticular arthritis (HP:0005764)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: CIITA
Phenotype: Agammaglobulinemia (HP:0004432)
Associated disease: BARE LYMPHOCYTE SYNDROME, TYPE II (OMIM:209920)
Gene: CIITA
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: BARE LYMPHOCYTE SYNDROME, TYPE II (OMIM:209920)
Gene: CIITA
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: CIITA
Phenotype: Panhypogammaglobulinemia (HP:0003139)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: CIITA
Phenotype: Panhypogammaglobulinemia (HP:0003139)
Associated disease: BARE LYMPHOCYTE SYNDROME, TYPE II (OMIM:209920)
Gene: CIITA
Phenotype: Skin rash (HP:0000988)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: CIITA
Phenotype: Anti-citrullinated protein antibody positivity (HP:0033034)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: CIITA
Phenotype: Digital flexor tenosynovitis (HP:0012276)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: CIITA
Phenotype: Reduced MHC II cell surface expression (HP:0031390)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: CIITA
Phenotype: Abnormal CD4:CD8 ratio (HP:0031394)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: CIITA
Phenotype: Arthralgia (HP:0002829)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: CIITA
Phenotype: Sinusitis (HP:0000246)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: CIITA
Phenotype: Failure to thrive (HP:0001508)
Associated disease: BARE LYMPHOCYTE SYNDROME, TYPE II (OMIM:209920)
Gene: CIITA
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: CIITA
Phenotype: Decreased mitogen-induced T-cell proliferation (HP:0031381)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: CIITA
Phenotype: Recurrent fungal infections (HP:0002841)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: CIITA
Phenotype: Recurrent fungal infections (HP:0002841)
Associated disease: BARE LYMPHOCYTE SYNDROME, TYPE II (OMIM:209920)
Gene: CIITA
Phenotype: Fatigue (HP:0012378)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: CIITA
Phenotype: Rhinitis (HP:0012384)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: CIITA
Phenotype: Viral hepatitis (HP:0006562)
Associated disease: BARE LYMPHOCYTE SYNDROME, TYPE II (OMIM:209920)
Gene: CIITA
Phenotype: Rheumatoid factor positive (HP:0002923)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: CIITA
Phenotype: Acute otitis media (HP:0000371)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: CIITA
Phenotype: Cholangitis (HP:0030151)
Associated disease: BARE LYMPHOCYTE SYNDROME, TYPE II (OMIM:209920)
Gene: CIITA
Phenotype: Autoimmunity (HP:0002960)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: CIITA
Phenotype: Cutaneous anergy (HP:0002965)
Associated disease: BARE LYMPHOCYTE SYNDROME, TYPE II (OMIM:209920)
Gene: CIITA
Phenotype: Recurrent protozoan infections (HP:0005386)
Associated disease: BARE LYMPHOCYTE SYNDROME, TYPE II (OMIM:209920)
Gene: CIITA
Phenotype: Recurrent protozoan infections (HP:0005386)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: CIITA
Phenotype: Absent cellular immunity (HP:0005354)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: CIITA
Phenotype: Recurrent herpes (HP:0005353)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: CIITA
Phenotype: Abnormality of humoral immunity (HP:0005368)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: CIITA
Phenotype: Decreased total T cell count (HP:0005403)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: CIITA
Phenotype: Recurrent candida infections (HP:0005401)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: CIITA
Phenotype: Weight loss (HP:0001824)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: CIITA
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: CIITA
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: CIITA
Phenotype: Pancytopenia (HP:0001876)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: CIITA
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: BARE LYMPHOCYTE SYNDROME, TYPE II (OMIM:209920)
Gene: CIITA
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: MID1
Phenotype: Poor speech (HP:0002465)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Congenital posterior urethral valve (HP:0010957)
Associated disease: OPITZ GBBB SYNDROME, TYPE I (OMIM:300000)
Gene: MID1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: OPITZ GBBB SYNDROME, TYPE I (OMIM:300000)
Gene: MID1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: OPITZ GBBB SYNDROME, TYPE I (OMIM:300000)
Gene: MID1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: OPITZ GBBB SYNDROME, TYPE I (OMIM:300000)
Gene: MID1
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Laryngeal cleft (HP:0008751)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Laryngeal cleft (HP:0008751)
Associated disease: OPITZ GBBB SYNDROME, TYPE I (OMIM:300000)
Gene: MID1
Phenotype: Enlarged ovaries (HP:0100879)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: OPITZ GBBB SYNDROME, TYPE I (OMIM:300000)
Gene: MID1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Micropenis (HP:0000054)
Associated disease: OPITZ GBBB SYNDROME, TYPE I (OMIM:300000)
Gene: MID1
Phenotype: Bifid scrotum (HP:0000048)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Hypospadias (HP:0000047)
Associated disease: OPITZ GBBB SYNDROME, TYPE I (OMIM:300000)
Gene: MID1
Phenotype: Hypospadias (HP:0000047)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Shawl scrotum (HP:0000049)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: OPITZ GBBB SYNDROME, TYPE I (OMIM:300000)
Gene: MID1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: OPITZ GBBB SYNDROME, TYPE I (OMIM:300000)
Gene: MID1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: OPITZ GBBB SYNDROME, TYPE I (OMIM:300000)
Gene: MID1
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Cleft palate (HP:0000175)
Associated disease: OPITZ GBBB SYNDROME, TYPE I (OMIM:300000)
Gene: MID1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Cleft lip (HP:0410030)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Solitary median maxillary central incisor (HP:0006315)
Associated disease: OPITZ GBBB SYNDROME, TYPE I (OMIM:300000)
Gene: MID1
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Rectourethral fistula (HP:0025407)
Associated disease: OPITZ GBBB SYNDROME, TYPE I (OMIM:300000)
Gene: MID1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: OPITZ GBBB SYNDROME, TYPE I (OMIM:300000)
Gene: MID1
Phenotype: Anal atresia (HP:0002023)
Associated disease: OPITZ GBBB SYNDROME, TYPE I (OMIM:300000)
Gene: MID1
Phenotype: Anal atresia (HP:0002023)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: OPITZ GBBB SYNDROME, TYPE I (OMIM:300000)
Gene: MID1
Phenotype: Dysphagia (HP:0002015)
Associated disease: OPITZ GBBB SYNDROME, TYPE I (OMIM:300000)
Gene: MID1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: OPITZ GBBB SYNDROME, TYPE I (OMIM:300000)
Gene: MID1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Recurrent aspiration pneumonia (HP:0002100)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Thyroglossal cyst (HP:0010518)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Congenital onset (HP:0003577)
Associated disease: OPITZ GBBB SYNDROME, TYPE I (OMIM:300000)
Gene: MID1
Phenotype: Aplasia/Hypoplasia of the cerebellar vermis (HP:0006817)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Natal tooth (HP:0000695)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Hypodontia (HP:0000668)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Short stature (HP:0004322)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Ectopic anus (HP:0004397)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)
Gene: MID1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: Hypospadias-dysphagia syndrome; Opitz G/BBB syndrome; Opitz GBBB syndrome; Opitz-Frias syndrome; Opitz BBB/G syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz BBBG syndrome; Hypertelorism-hypospadias syndrome (ORPHA:2745)