TaoMedAI/RareMedData huggingface dataset:
Gene: CTR9
Phenotype: Abnormal uterus morphology (HP:0031105)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: CTR9
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: CTR9
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: CTR9
Phenotype: Neoplasm of the lung (HP:0100526)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: CTR9
Phenotype: Dyspnea (HP:0002094)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: CTR9
Phenotype: Reduced von Willebrand factor activity (HP:0008330)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: CTR9
Phenotype: Duplication of renal pelvis (HP:0005580)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: CTR9
Phenotype: Fever (HP:0001945)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: CTR9
Phenotype: Anemia (HP:0001903)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: CTR9
Phenotype: Polycythemia (HP:0001901)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: CTR9
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: CTR9
Phenotype: Varicocele (HP:0012871)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: CTR9
Phenotype: Hypertension (HP:0000822)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: CTR9
Phenotype: Neoplasm of the liver (HP:0002896)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: CTR9
Phenotype: Hemihypertrophy (HP:0001528)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: CTR9
Phenotype: Abdominal mass (HP:0031500)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: CTR9
Phenotype: Microscopic hematuria (HP:0002907)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: CTR9
Phenotype: Aniridia (HP:0000526)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: CTR9
Phenotype: Weight loss (HP:0001824)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: CTR9
Phenotype: Macroscopic hematuria (HP:0012587)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: SKIC3
Phenotype: Abnormalities of placenta or umbilical cord (HP:0001194)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Dependency on intravenous nutrition (HP:0025156)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Microtia (HP:0008551)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Trichorrhexis nodosa (HP:0009886)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Trichorrhexis nodosa (HP:0009886)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Colitis (HP:0002583)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Cholestasis (HP:0001396)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Hepatic failure (HP:0001399)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Cirrhosis (HP:0001394)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Galactosuria (HP:0012023)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Hypergalactosemia (HP:0012024)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Hypospadias (HP:0000047)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Generalized hypopigmentation (HP:0007513)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Generalized hypopigmentation (HP:0007513)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Narrow mouth (HP:0000160)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Wide mouth (HP:0000154)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Large placenta (HP:0006267)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Polycystic kidney dysplasia (HP:0000113)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Frontal bossing (HP:0002007)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Intractable diarrhea (HP:0002041)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Intractable diarrhea (HP:0002041)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Increased circulating iron concentration (HP:0003452)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Renal cortical microcysts (HP:0004734)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Increased mean platelet volume (HP:0011877)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Increased mean platelet volume (HP:0011877)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Woolly hair (HP:0002224)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Woolly hair (HP:0002224)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Curly hair (HP:0002212)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Fine hair (HP:0002213)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Brittle hair (HP:0002299)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Brittle hair (HP:0002299)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Bloody diarrhea (HP:0025085)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Peripheral pulmonary artery stenosis (HP:0004969)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Short stature (HP:0004322)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Short stature (HP:0004322)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Villous atrophy (HP:0011473)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Villous atrophy (HP:0011473)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Hypoplasia of the thymus (HP:0000778)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Avascular necrosis of the capital femoral epiphysis (HP:0005743)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Panhypogammaglobulinemia (HP:0003139)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Hypermethioninemia (HP:0003235)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Dry skin (HP:0000958)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Jaundice (HP:0000952)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Sparse hair (HP:0008070)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Uncombable hair (HP:0030056)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Hepatoblastoma (HP:0002884)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Small for gestational age (HP:0001518)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Abnormality of iron homeostasis (HP:0011031)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Abnormality of iron homeostasis (HP:0011031)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Gastritis (HP:0005263)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Low-set ears (HP:0000369)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Long philtrum (HP:0000343)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Broad forehead (HP:0000337)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Broad forehead (HP:0000337)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Abnormality of the pancreas (HP:0001732)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Anteverted nares (HP:0000463)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Abnormal skin morphology (HP:0011121)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Wide nose (HP:0000445)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Splenomegaly (HP:0001744)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Proptosis (HP:0000520)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Glaucoma (HP:0000501)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Prominent forehead (HP:0011220)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Gene: SKIC3
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC3
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: HS2ST1
Phenotype: Anterior polar cataract (HP:0001134)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Bilateral renal agenesis (HP:0010958)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Attached earlobe (HP:0009907)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: High anterior hairline (HP:0009890)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Prominent crus of helix (HP:0009899)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HS2ST1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HS2ST1
Phenotype: Hypertonia (HP:0001276)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)