TaoMedAI/RareMedData huggingface dataset:
Gene: TPM4
Phenotype: Childhood onset (HP:0011463)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 25 (OMIM:620486)
Gene: TPM4
Phenotype: Spontaneous, recurrent epistaxis (HP:0004406)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 25 (OMIM:620486)
Gene: TPM4
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 25 (OMIM:620486)
Gene: TPM4
Phenotype: Macrothrombocytopenia (HP:0040185)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 25 (OMIM:620486)
Gene: TPM4
Phenotype: Excessive bleeding from superficial cuts (HP:0030138)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 25 (OMIM:620486)
Gene: TPM4
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 25 (OMIM:620486)
Gene: TPMT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: THIOPURINES, POOR METABOLISM OF, 1 (OMIM:610460)
Gene: TPMT
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: THIOPURINES, POOR METABOLISM OF, 1 (OMIM:610460)
Gene: TPMT
Phenotype: Abnormality of blood and blood-forming tissues (HP:0001871)
Associated disease: THIOPURINES, POOR METABOLISM OF, 1 (OMIM:610460)
Gene: TPO
Phenotype: Lethargy (HP:0001254)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TPO
Phenotype: Hypotonia (HP:0001252)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TPO
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TPO
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TPO
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TPO
Phenotype: Delayed proximal femoral epiphyseal ossification (HP:0008828)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TPO
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: THYROID DYSHORMONOGENESIS 2A (OMIM:274500)
Gene: TPO
Phenotype: Abnormal circulating thyroglobulin concentration (HP:0025483)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TPO
Phenotype: Positive perchlorate discharge test (HP:0025482)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TPO
Phenotype: Macroglossia (HP:0000158)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TPO
Phenotype: Reduced radioactive iodine uptake (HP:0031219)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TPO
Phenotype: Increased radioactive iodine uptake (HP:0031220)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TPO
Phenotype: Constipation (HP:0002019)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TPO
Phenotype: Hypothermia (HP:0002045)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TPO
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TPO
Phenotype: Thyroid defect in oxidation and organification of iodide (HP:0008263)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TPO
Phenotype: Thyroid defect in oxidation and organification of iodide (HP:0008263)
Associated disease: THYROID DYSHORMONOGENESIS 2A (OMIM:274500)
Gene: TPO
Phenotype: Infantile onset (HP:0003593)
Associated disease: THYROID DYSHORMONOGENESIS 2A (OMIM:274500)
Gene: TPO
Phenotype: Maternal autoimmune disease (HP:0011437)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TPO
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TPO
Phenotype: Large posterior fontanelle (HP:0004491)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TPO
Phenotype: Congenital hypothyroidism (HP:0000851)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TPO
Phenotype: Goiter (HP:0000853)
Associated disease: THYROID DYSHORMONOGENESIS 2A (OMIM:274500)
Gene: TPO
Phenotype: Goiter (HP:0000853)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TPO
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: THYROID DYSHORMONOGENESIS 2A (OMIM:274500)
Gene: TPO
Phenotype: Neonatal hyperbilirubinemia (HP:0003265)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TPO
Phenotype: Facial edema (HP:0000282)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TPO
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TPO
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TPO
Phenotype: Decreased circulating T4 concentration (HP:0031507)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TPO
Phenotype: Decreased circulating T4 concentration (HP:0031507)
Associated disease: THYROID DYSHORMONOGENESIS 2A (OMIM:274500)
Gene: TPO
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TPO
Phenotype: Elevated circulating thyroid-stimulating hormone concentration (HP:0002925)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TPO
Phenotype: Bradycardia (HP:0001662)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TPO
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TPO
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TPP2
Phenotype: Persistent CMV viremia (HP:0032247)
Associated disease: IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY (OMIM:619220)
Gene: TPP2
Phenotype: Stroke (HP:0001297)
Associated disease: Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency; TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease; TRIANGLE disease; Evans syndrome associated with primary immunodeficiency; Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to tripeptidyl-peptidase II (ORPHA:444463)
Gene: TPP2
Phenotype: Hemiparesis (HP:0001269)
Associated disease: Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency; TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease; TRIANGLE disease; Evans syndrome associated with primary immunodeficiency; Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to tripeptidyl-peptidase II (ORPHA:444463)
Gene: TPP2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY (OMIM:619220)
Gene: TPP2
Phenotype: Death in childhood (HP:0003819)
Associated disease: IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY (OMIM:619220)
Gene: TPP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY (OMIM:619220)
Gene: TPP2
Phenotype: Hepatitis (HP:0012115)
Associated disease: Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency; TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease; TRIANGLE disease; Evans syndrome associated with primary immunodeficiency; Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to tripeptidyl-peptidase II (ORPHA:444463)
Gene: TPP2
Phenotype: Recurrent oral herpes (HP:0410028)
Associated disease: IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY (OMIM:619220)
Gene: TPP2
Phenotype: Fluctuating splenomegaly (HP:0006268)
Associated disease: IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY (OMIM:619220)
Gene: TPP2
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY (OMIM:619220)
Gene: TPP2
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency; TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease; TRIANGLE disease; Evans syndrome associated with primary immunodeficiency; Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to tripeptidyl-peptidase II (ORPHA:444463)
Gene: TPP2
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY (OMIM:619220)
Gene: TPP2
Phenotype: Systemic lupus erythematosus (HP:0002725)
Associated disease: Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency; TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease; TRIANGLE disease; Evans syndrome associated with primary immunodeficiency; Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to tripeptidyl-peptidase II (ORPHA:444463)
Gene: TPP2
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY (OMIM:619220)
Gene: TPP2
Phenotype: Increased circulating IgM level (HP:0003496)
Associated disease: IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY (OMIM:619220)
Gene: TPP2
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY (OMIM:619220)
Gene: TPP2
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency; TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease; TRIANGLE disease; Evans syndrome associated with primary immunodeficiency; Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to tripeptidyl-peptidase II (ORPHA:444463)
Gene: TPP2
Phenotype: Autoimmune thrombocytopenia (HP:0001973)
Associated disease: Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency; TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease; TRIANGLE disease; Evans syndrome associated with primary immunodeficiency; Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to tripeptidyl-peptidase II (ORPHA:444463)
Gene: TPP2
Phenotype: Autoimmune thrombocytopenia (HP:0001973)
Associated disease: IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY (OMIM:619220)
Gene: TPP2
Phenotype: Autoimmune neutropenia (HP:0001904)
Associated disease: IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY (OMIM:619220)
Gene: TPP2
Phenotype: Moderate global developmental delay (HP:0011343)
Associated disease: Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency; TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease; TRIANGLE disease; Evans syndrome associated with primary immunodeficiency; Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to tripeptidyl-peptidase II (ORPHA:444463)
Gene: TPP2
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY (OMIM:619220)
Gene: TPP2
Phenotype: Childhood onset (HP:0011463)
Associated disease: IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY (OMIM:619220)
Gene: TPP2
Phenotype: Increased circulating IgG concentration (HP:0003237)
Associated disease: IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY (OMIM:619220)
Gene: TPP2
Phenotype: Facial papilloma (HP:0040167)
Associated disease: IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY (OMIM:619220)
Gene: TPP2
Phenotype: Mastoiditis (HP:0000265)
Associated disease: IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY (OMIM:619220)
Gene: TPP2
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency; TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease; TRIANGLE disease; Evans syndrome associated with primary immunodeficiency; Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to tripeptidyl-peptidase II (ORPHA:444463)
Gene: TPP2
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency; TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease; TRIANGLE disease; Evans syndrome associated with primary immunodeficiency; Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to tripeptidyl-peptidase II (ORPHA:444463)
Gene: TPP2
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY (OMIM:619220)
Gene: TPP2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency; TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease; TRIANGLE disease; Evans syndrome associated with primary immunodeficiency; Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to tripeptidyl-peptidase II (ORPHA:444463)
Gene: TPP2
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency; TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease; TRIANGLE disease; Evans syndrome associated with primary immunodeficiency; Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to tripeptidyl-peptidase II (ORPHA:444463)
Gene: TPP2
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY (OMIM:619220)
Gene: TPP2
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency; TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease; TRIANGLE disease; Evans syndrome associated with primary immunodeficiency; Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to tripeptidyl-peptidase II (ORPHA:444463)
Gene: TPP2
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency; TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease; TRIANGLE disease; Evans syndrome associated with primary immunodeficiency; Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to tripeptidyl-peptidase II (ORPHA:444463)
Gene: TPR
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 79 (OMIM:620393)
Gene: TPR
Phenotype: Long fingers (HP:0100807)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 79 (OMIM:620393)
Gene: TPR
Phenotype: Hypotonia (HP:0001252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 79 (OMIM:620393)
Gene: TPR
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 79 (OMIM:620393)
Gene: TPR
Phenotype: Slender finger (HP:0001238)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 79 (OMIM:620393)
Gene: TPR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 79 (OMIM:620393)
Gene: TPR
Phenotype: Intention tremor (HP:0002080)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 79 (OMIM:620393)
Gene: TPR
Phenotype: Gait ataxia (HP:0002066)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 79 (OMIM:620393)
Gene: TPR
Phenotype: Broad-based gait (HP:0002136)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 79 (OMIM:620393)
Gene: TPR
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 79 (OMIM:620393)
Gene: TPR
Phenotype: Infantile onset (HP:0003593)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 79 (OMIM:620393)
Gene: TPR
Phenotype: Tongue thrusting (HP:0100703)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 79 (OMIM:620393)
Gene: TPR
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 79 (OMIM:620393)
Gene: TPR
Phenotype: Incoordination (HP:0002311)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 79 (OMIM:620393)
Gene: TPR
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 79 (OMIM:620393)
Gene: TPR
Phenotype: Short hallux (HP:0010109)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 79 (OMIM:620393)
Gene: TPR
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 79 (OMIM:620393)
Gene: TPR
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 79 (OMIM:620393)
Gene: TPR
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 79 (OMIM:620393)
Gene: TPR
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 79 (OMIM:620393)
Gene: TPR
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 79 (OMIM:620393)
Gene: TPR
Phenotype: Deeply set eye (HP:0000490)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 79 (OMIM:620393)
Gene: TPR
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 79 (OMIM:620393)
Gene: TPR
Phenotype: Pes planus (HP:0001763)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 79 (OMIM:620393)
Gene: TPR
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 79 (OMIM:620393)
Gene: TRAF3
Phenotype: Chills (HP:0025143)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TRAF3
Phenotype: Seizure (HP:0001250)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TRAF3
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TRAF3
Phenotype: Coma (HP:0001259)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TRAF3
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TRAF3
Phenotype: Nuchal rigidity (HP:0031179)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TRAF3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 5 (OMIM:614849)
Gene: TRAF3
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TRAF3
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TRAF3
Phenotype: Addictive alcohol use (HP:0030955)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TRAF3
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TRAF3
Phenotype: Cerebral edema (HP:0002181)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TRAF3
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TRAF3
Phenotype: Increased total neutrophil count (HP:0011897)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)