TaoMedAI/RareMedData huggingface dataset:
Gene: TSR2
Phenotype: Malignant genitourinary tract tumor (HP:0006758)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: TSR2
Phenotype: Developmental cataract (HP:0000519)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: TSR2
Phenotype: Ptosis (HP:0000508)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: TSR2
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: TSR2
Phenotype: Reticulocytopenia (HP:0001896)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: TSR2
Phenotype: Normochromic anemia (HP:0001895)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: TSR2
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: TSR2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: TSR2
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: HS6ST2
Phenotype: Poor speech (HP:0002465)
Associated disease: PAGANINI-MIOZZO SYNDROME (OMIM:301025)
Gene: HS6ST2
Phenotype: Microtia (HP:0008551)
Associated disease: PAGANINI-MIOZZO SYNDROME (OMIM:301025)
Gene: HS6ST2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PAGANINI-MIOZZO SYNDROME (OMIM:301025)
Gene: HS6ST2
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: PAGANINI-MIOZZO SYNDROME (OMIM:301025)
Gene: HS6ST2
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: PAGANINI-MIOZZO SYNDROME (OMIM:301025)
Gene: HS6ST2
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: PAGANINI-MIOZZO SYNDROME (OMIM:301025)
Gene: HS6ST2
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: PAGANINI-MIOZZO SYNDROME (OMIM:301025)
Gene: HS6ST2
Phenotype: Large forehead (HP:0002003)
Associated disease: PAGANINI-MIOZZO SYNDROME (OMIM:301025)
Gene: HS6ST2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: PAGANINI-MIOZZO SYNDROME (OMIM:301025)
Gene: HS6ST2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: PAGANINI-MIOZZO SYNDROME (OMIM:301025)
Gene: HS6ST2
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: PAGANINI-MIOZZO SYNDROME (OMIM:301025)
Gene: HS6ST2
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: PAGANINI-MIOZZO SYNDROME (OMIM:301025)
Gene: HS6ST2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: PAGANINI-MIOZZO SYNDROME (OMIM:301025)
Gene: HS6ST2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PAGANINI-MIOZZO SYNDROME (OMIM:301025)
Gene: HS6ST2
Phenotype: Childhood onset (HP:0011463)
Associated disease: PAGANINI-MIOZZO SYNDROME (OMIM:301025)
Gene: HS6ST2
Phenotype: Malar flattening (HP:0000272)
Associated disease: PAGANINI-MIOZZO SYNDROME (OMIM:301025)
Gene: HS6ST2
Phenotype: Elevated lactate:pyruvate ratio (HP:0032653)
Associated disease: PAGANINI-MIOZZO SYNDROME (OMIM:301025)
Gene: HS6ST2
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: PAGANINI-MIOZZO SYNDROME (OMIM:301025)
Gene: HS6ST2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: PAGANINI-MIOZZO SYNDROME (OMIM:301025)
Gene: HS6ST2
Phenotype: High myopia (HP:0011003)
Associated disease: PAGANINI-MIOZZO SYNDROME (OMIM:301025)
Gene: HS6ST2
Phenotype: Low-set ears (HP:0000369)
Associated disease: PAGANINI-MIOZZO SYNDROME (OMIM:301025)
Gene: HS6ST2
Phenotype: Narrow forehead (HP:0000341)
Associated disease: PAGANINI-MIOZZO SYNDROME (OMIM:301025)
Gene: HS6ST2
Phenotype: Triangular face (HP:0000325)
Associated disease: PAGANINI-MIOZZO SYNDROME (OMIM:301025)
Gene: HS6ST2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: PAGANINI-MIOZZO SYNDROME (OMIM:301025)
Gene: HS6ST2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: PAGANINI-MIOZZO SYNDROME (OMIM:301025)
Gene: HS6ST2
Phenotype: Deeply set eye (HP:0000490)
Associated disease: PAGANINI-MIOZZO SYNDROME (OMIM:301025)
Gene: FRMD7
Phenotype: Pendular nystagmus (HP:0012043)
Associated disease: NYSTAGMUS 1, CONGENITAL, X-LINKED (OMIM:310700)
Gene: FRMD7
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: NYSTAGMUS 1, CONGENITAL, X-LINKED (OMIM:310700)
Gene: FRMD7
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: NYSTAGMUS 1, CONGENITAL, X-LINKED (OMIM:310700)
Gene: FRMD7
Phenotype: Infantile onset (HP:0003593)
Associated disease: NYSTAGMUS 1, CONGENITAL, X-LINKED (OMIM:310700)
Gene: FRMD7
Phenotype: Mildly reduced visual acuity (HP:0032037)
Associated disease: NYSTAGMUS 1, CONGENITAL, X-LINKED (OMIM:310700)
Gene: FRMD7
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: NYSTAGMUS 1, CONGENITAL, X-LINKED (OMIM:310700)
Gene: FRMD7
Phenotype: Congenital nystagmus (HP:0006934)
Associated disease: NYSTAGMUS 1, CONGENITAL, X-LINKED (OMIM:310700)
Gene: OTULIN
Phenotype: Increased proportion of CD4-positive T cells (HP:0032219)
Associated disease: AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME (OMIM:617099)
Gene: OTULIN
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: IMMUNODEFICIENCY 107, SUSCEPTIBILITY TO INVASIVE STAPHYLOCOCCUS AUREUS INFECTION (OMIM:619986)
Gene: OTULIN
Phenotype: Joint swelling (HP:0001386)
Associated disease: AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME (OMIM:617099)
Gene: OTULIN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME (OMIM:617099)
Gene: OTULIN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: IMMUNODEFICIENCY 107, SUSCEPTIBILITY TO INVASIVE STAPHYLOCOCCUS AUREUS INFECTION (OMIM:619986)
Gene: OTULIN
Phenotype: Vasculitis (HP:0002633)
Associated disease: AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME (OMIM:617099)
Gene: OTULIN
Phenotype: Pyoderma gangrenosum (HP:0025452)
Associated disease: IMMUNODEFICIENCY 107, SUSCEPTIBILITY TO INVASIVE STAPHYLOCOCCUS AUREUS INFECTION (OMIM:619986)
Gene: OTULIN
Phenotype: Cutaneous abscess (HP:0031292)
Associated disease: IMMUNODEFICIENCY 107, SUSCEPTIBILITY TO INVASIVE STAPHYLOCOCCUS AUREUS INFECTION (OMIM:619986)
Gene: OTULIN
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME (OMIM:617099)
Gene: OTULIN
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY 107, SUSCEPTIBILITY TO INVASIVE STAPHYLOCOCCUS AUREUS INFECTION (OMIM:619986)
Gene: OTULIN
Phenotype: Abdominal pain (HP:0002027)
Associated disease: AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME (OMIM:617099)
Gene: OTULIN
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME (OMIM:617099)
Gene: OTULIN
Phenotype: Myalgia (HP:0003326)
Associated disease: AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME (OMIM:617099)
Gene: OTULIN
Phenotype: Diarrhea (HP:0002014)
Associated disease: AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME (OMIM:617099)
Gene: OTULIN
Phenotype: Increased circulating IgM level (HP:0003496)
Associated disease: AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME (OMIM:617099)
Gene: OTULIN
Phenotype: Increased total neutrophil count (HP:0011897)
Associated disease: AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME (OMIM:617099)
Gene: OTULIN
Phenotype: Infantile onset (HP:0003593)
Associated disease: AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME (OMIM:617099)
Gene: OTULIN
Phenotype: Juvenile onset (HP:0003621)
Associated disease: IMMUNODEFICIENCY 107, SUSCEPTIBILITY TO INVASIVE STAPHYLOCOCCUS AUREUS INFECTION (OMIM:619986)
Gene: OTULIN
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME (OMIM:617099)
Gene: OTULIN
Phenotype: Recurrent fever (HP:0001954)
Associated disease: AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME (OMIM:617099)
Gene: OTULIN
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME (OMIM:617099)
Gene: OTULIN
Phenotype: Increased circulating IgA concentration (HP:0003261)
Associated disease: AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME (OMIM:617099)
Gene: OTULIN
Phenotype: Skin rash (HP:0000988)
Associated disease: AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME (OMIM:617099)
Gene: OTULIN
Phenotype: Arthralgia (HP:0002829)
Associated disease: AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME (OMIM:617099)
Gene: OTULIN
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME (OMIM:617099)
Gene: OTULIN
Phenotype: Panniculitis (HP:0012490)
Associated disease: AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME (OMIM:617099)
Gene: OTULIN
Phenotype: Chronic furunculosis (HP:0011132)
Associated disease: IMMUNODEFICIENCY 107, SUSCEPTIBILITY TO INVASIVE STAPHYLOCOCCUS AUREUS INFECTION (OMIM:619986)
Gene: OTULIN
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME (OMIM:617099)
Gene: MCFD2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 (OMIM:613625)
Gene: MCFD2
Phenotype: Prolonged bleeding after dental extraction (HP:0006298)
Associated disease: F5F8D; FV and FVIII combined deficiency; Combined deficiency of factor V and factor VIII (ORPHA:35909)
Gene: MCFD2
Phenotype: Menorrhagia (HP:0000132)
Associated disease: F5F8D; FV and FVIII combined deficiency; Combined deficiency of factor V and factor VIII (ORPHA:35909)
Gene: MCFD2
Phenotype: Menorrhagia (HP:0000132)
Associated disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 (OMIM:613625)
Gene: MCFD2
Phenotype: Prolonged prothrombin time (HP:0008151)
Associated disease: F5F8D; FV and FVIII combined deficiency; Combined deficiency of factor V and factor VIII (ORPHA:35909)
Gene: MCFD2
Phenotype: Hyperuricemia (HP:0002149)
Associated disease: F5F8D; FV and FVIII combined deficiency; Combined deficiency of factor V and factor VIII (ORPHA:35909)
Gene: MCFD2
Phenotype: Intracranial hemorrhage (HP:0002170)
Associated disease: F5F8D; FV and FVIII combined deficiency; Combined deficiency of factor V and factor VIII (ORPHA:35909)
Gene: MCFD2
Phenotype: Bleeding with minor or no trauma (HP:0011889)
Associated disease: F5F8D; FV and FVIII combined deficiency; Combined deficiency of factor V and factor VIII (ORPHA:35909)
Gene: MCFD2
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: F5F8D; FV and FVIII combined deficiency; Combined deficiency of factor V and factor VIII (ORPHA:35909)
Gene: MCFD2
Phenotype: Prolonged bleeding after surgery (HP:0004846)
Associated disease: F5F8D; FV and FVIII combined deficiency; Combined deficiency of factor V and factor VIII (ORPHA:35909)
Gene: MCFD2
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: F5F8D; FV and FVIII combined deficiency; Combined deficiency of factor V and factor VIII (ORPHA:35909)
Gene: MCFD2
Phenotype: Persistent bleeding after trauma (HP:0001934)
Associated disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 (OMIM:613625)
Gene: MCFD2
Phenotype: Hyperlipidemia (HP:0003077)
Associated disease: F5F8D; FV and FVIII combined deficiency; Combined deficiency of factor V and factor VIII (ORPHA:35909)
Gene: MCFD2
Phenotype: Hematuria (HP:0000790)
Associated disease: F5F8D; FV and FVIII combined deficiency; Combined deficiency of factor V and factor VIII (ORPHA:35909)
Gene: MCFD2
Phenotype: Reduced factor VIII activity (HP:0003125)
Associated disease: F5F8D; FV and FVIII combined deficiency; Combined deficiency of factor V and factor VIII (ORPHA:35909)
Gene: MCFD2
Phenotype: Reduced factor VIII activity (HP:0003125)
Associated disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 (OMIM:613625)
Gene: MCFD2
Phenotype: Reduced coagulation factor V activity (HP:0003225)
Associated disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 (OMIM:613625)
Gene: MCFD2
Phenotype: Reduced coagulation factor V activity (HP:0003225)
Associated disease: F5F8D; FV and FVIII combined deficiency; Combined deficiency of factor V and factor VIII (ORPHA:35909)
Gene: MCFD2
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: F5F8D; FV and FVIII combined deficiency; Combined deficiency of factor V and factor VIII (ORPHA:35909)
Gene: MCFD2
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: F5F8D; FV and FVIII combined deficiency; Combined deficiency of factor V and factor VIII (ORPHA:35909)
Gene: MCFD2
Phenotype: Joint hemorrhage (HP:0005261)
Associated disease: F5F8D; FV and FVIII combined deficiency; Combined deficiency of factor V and factor VIII (ORPHA:35909)
Gene: MCFD2
Phenotype: Prolonged bleeding following circumcision (HP:0030137)
Associated disease: F5F8D; FV and FVIII combined deficiency; Combined deficiency of factor V and factor VIII (ORPHA:35909)
Gene: MCFD2
Phenotype: Epistaxis (HP:0000421)
Associated disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 (OMIM:613625)
Gene: MCFD2
Phenotype: Epistaxis (HP:0000421)
Associated disease: F5F8D; FV and FVIII combined deficiency; Combined deficiency of factor V and factor VIII (ORPHA:35909)
Gene: CCDC32
Phenotype: Brachydactyly (HP:0001156)
Associated disease: CARDIOFACIONEURODEVELOPMENTAL SYNDROME (OMIM:619123)
Gene: CCDC32
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CARDIOFACIONEURODEVELOPMENTAL SYNDROME (OMIM:619123)
Gene: CCDC32
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: CARDIOFACIONEURODEVELOPMENTAL SYNDROME (OMIM:619123)
Gene: CCDC32
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: CARDIOFACIONEURODEVELOPMENTAL SYNDROME (OMIM:619123)
Gene: CCDC32
Phenotype: Abnormal dermatoglyphics (HP:0007477)
Associated disease: CARDIOFACIONEURODEVELOPMENTAL SYNDROME (OMIM:619123)
Gene: CCDC32
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CARDIOFACIONEURODEVELOPMENTAL SYNDROME (OMIM:619123)
Gene: CCDC32
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: CARDIOFACIONEURODEVELOPMENTAL SYNDROME (OMIM:619123)
Gene: CCDC32
Phenotype: Cleft palate (HP:0000175)
Associated disease: CARDIOFACIONEURODEVELOPMENTAL SYNDROME (OMIM:619123)
Gene: CCDC32
Phenotype: Cleft lip (HP:0410030)
Associated disease: CARDIOFACIONEURODEVELOPMENTAL SYNDROME (OMIM:619123)
Gene: CCDC32
Phenotype: Abdominal situs inversus (HP:0003363)
Associated disease: CARDIOFACIONEURODEVELOPMENTAL SYNDROME (OMIM:619123)
Gene: CCDC32
Phenotype: Congenital onset (HP:0003577)
Associated disease: CARDIOFACIONEURODEVELOPMENTAL SYNDROME (OMIM:619123)
Gene: CCDC32
Phenotype: Aplasia/Hypoplasia of the nails (HP:0008386)
Associated disease: CARDIOFACIONEURODEVELOPMENTAL SYNDROME (OMIM:619123)
Gene: CCDC32
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: CARDIOFACIONEURODEVELOPMENTAL SYNDROME (OMIM:619123)
Gene: CCDC32
Phenotype: Hypotelorism (HP:0000601)
Associated disease: CARDIOFACIONEURODEVELOPMENTAL SYNDROME (OMIM:619123)
Gene: CCDC32
Phenotype: Kyphosis (HP:0002808)
Associated disease: CARDIOFACIONEURODEVELOPMENTAL SYNDROME (OMIM:619123)
Gene: CCDC32
Phenotype: Microcephaly (HP:0000252)
Associated disease: CARDIOFACIONEURODEVELOPMENTAL SYNDROME (OMIM:619123)
Gene: CCDC32
Phenotype: Camptodactyly (HP:0012385)
Associated disease: CARDIOFACIONEURODEVELOPMENTAL SYNDROME (OMIM:619123)
Gene: CCDC32
Phenotype: Micrognathia (HP:0000347)
Associated disease: CARDIOFACIONEURODEVELOPMENTAL SYNDROME (OMIM:619123)
Gene: CCDC32
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CARDIOFACIONEURODEVELOPMENTAL SYNDROME (OMIM:619123)
Gene: CCDC32
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: CARDIOFACIONEURODEVELOPMENTAL SYNDROME (OMIM:619123)
Gene: CCDC32
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CARDIOFACIONEURODEVELOPMENTAL SYNDROME (OMIM:619123)
Gene: CCDC32
Phenotype: Atrioventricular canal defect (HP:0006695)
Associated disease: CARDIOFACIONEURODEVELOPMENTAL SYNDROME (OMIM:619123)
Gene: CCDC32
Phenotype: Asplenia (HP:0001746)
Associated disease: CARDIOFACIONEURODEVELOPMENTAL SYNDROME (OMIM:619123)
Gene: CCDC32
Phenotype: Protruding ear (HP:0000411)
Associated disease: CARDIOFACIONEURODEVELOPMENTAL SYNDROME (OMIM:619123)
Gene: CCDC32
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: CARDIOFACIONEURODEVELOPMENTAL SYNDROME (OMIM:619123)
Gene: KNSTRN
Phenotype: Psoriasiform dermatitis (HP:0003765)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: ROIFMAN-CHITAYAT SYNDROME (OMIM:613328)
Gene: KNSTRN
Phenotype: Positive Romberg sign (HP:0002403)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Decreased proportion of CD4-positive T cells (HP:0032218)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Ataxia (HP:0001251)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ROIFMAN-CHITAYAT SYNDROME (OMIM:613328)
Gene: KNSTRN
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Arteria lusoria (HP:0031014)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: ROIFMAN-CHITAYAT SYNDROME (OMIM:613328)
Gene: KNSTRN
Phenotype: Arthritis (HP:0001369)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Arthritis (HP:0001369)
Associated disease: ROIFMAN-CHITAYAT SYNDROME (OMIM:613328)
Gene: KNSTRN
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ROIFMAN-CHITAYAT SYNDROME (OMIM:613328)
Gene: KNSTRN
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Lacrimal duct stenosis (HP:0007678)
Associated disease: ROIFMAN-CHITAYAT SYNDROME (OMIM:613328)
Gene: KNSTRN
Phenotype: Lacrimal duct stenosis (HP:0007678)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Recurrent ear infections (HP:0410018)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Diarrhea (HP:0002014)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Palpebral edema (HP:0100540)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Intention tremor (HP:0002080)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Pneumonia (HP:0002090)
Associated disease: ROIFMAN-CHITAYAT SYNDROME (OMIM:613328)
Gene: KNSTRN
Phenotype: Myopathic facies (HP:0002058)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Nasogastric tube feeding (HP:0040288)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: ROIFMAN-CHITAYAT SYNDROME (OMIM:613328)
Gene: KNSTRN
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: ROIFMAN-CHITAYAT SYNDROME (OMIM:613328)
Gene: KNSTRN
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Decreased circulating total IgA (HP:0003460)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Recurrent aspiration pneumonia (HP:0002100)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Gene: KNSTRN
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)