TaoMedAI/RareMedData huggingface dataset:
Gene: SKI
Phenotype: Deeply set eye (HP:0000490)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SKI
Phenotype: Deeply set eye (HP:0000490)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SKI
Phenotype: Abnormality of the neck (HP:0000464)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SKI
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: SKI
Phenotype: Anteverted nares (HP:0000463)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SKI
Phenotype: Narrow foot (HP:0001786)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SKI
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SKI
Phenotype: Short neck (HP:0000470)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SKI
Phenotype: Short neck (HP:0000470)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: SKI
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SKI
Phenotype: Short nail (HP:0001799)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: SKI
Phenotype: Short foot (HP:0001773)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SKI
Phenotype: Talipes equinovalgus (HP:0001772)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: SKI
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SKI
Phenotype: Pes planus (HP:0001763)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: SKI
Phenotype: Pes planus (HP:0001763)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: SKI
Phenotype: Pes planus (HP:0001763)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SKI
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SKI
Phenotype: Pes planus (HP:0001763)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SKI
Phenotype: Hammertoe (HP:0001765)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SKI
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SKI
Phenotype: Narrow nasal ridge (HP:0000418)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SKI
Phenotype: Protruding ear (HP:0000411)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: SKI
Phenotype: Abnormality of the spleen (HP:0001743)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SKI
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SKI
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: SKI
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SKI
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: SKI
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SKI
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SKI
Phenotype: Pes cavus (HP:0001761)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SKI
Phenotype: Cataract (HP:0000518)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SKI
Phenotype: Cataract (HP:0000518)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SKI
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SKI
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SKI
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SKI
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SKI
Phenotype: Foot acroosteolysis (HP:0001842)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SKI
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SKI
Phenotype: Proptosis (HP:0000520)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: SKI
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SKI
Phenotype: Proptosis (HP:0000520)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SKI
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SKI
Phenotype: Telecanthus (HP:0000506)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: SKI
Phenotype: Telecanthus (HP:0000506)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SKI
Phenotype: Ptosis (HP:0000508)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: SKI
Phenotype: Ptosis (HP:0000508)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SKI
Phenotype: Camptodactyly of toe (HP:0001836)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SKI
Phenotype: Visual impairment (HP:0000505)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SKI
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SKI
Phenotype: Glaucoma (HP:0000501)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SKI
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SKI
Phenotype: Exotropia (HP:0000577)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SKI
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SKI
Phenotype: Horizontal eyebrow (HP:0011228)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SKI
Phenotype: Shallow orbits (HP:0000586)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SKI
Phenotype: Shallow orbits (HP:0000586)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: SKI
Phenotype: Keratoconus (HP:0000563)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SKI
Phenotype: Keratoconus (HP:0000563)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SKI
Phenotype: Prominent forehead (HP:0011220)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: SKI
Phenotype: Prominent forehead (HP:0011220)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SKI
Phenotype: Esotropia (HP:0000565)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SKI
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SKI
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SKI
Phenotype: Abnormal eyebrow morphology (HP:0000534)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SKI
Phenotype: Talipes (HP:0001883)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SKI
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SKI
Phenotype: Myopia (HP:0000545)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SKI
Phenotype: Myopia (HP:0000545)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SKI
Phenotype: Myopia (HP:0000545)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: SKI
Phenotype: Myopia (HP:0000545)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SKI
Phenotype: Myopia (HP:0000545)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SKIC2
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: SKIC2
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: SKIC2
Phenotype: Trichorrhexis nodosa (HP:0009886)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 2 (OMIM:614602)
Gene: SKIC2
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: SKIC2
Phenotype: Colitis (HP:0002583)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 2 (OMIM:614602)
Gene: SKIC2
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: SKIC2
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: SKIC2
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: SKIC2
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: SKIC2
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: SKIC2
Phenotype: Cirrhosis (HP:0001394)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 2 (OMIM:614602)
Gene: SKIC2
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: SKIC2
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: SKIC2
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: SKIC2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 2 (OMIM:614602)
Gene: SKIC2
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: SKIC2
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: SKIC2
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 2 (OMIM:614602)
Gene: SKIC2
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: SKIC2
Phenotype: Decreased circulating iron concentration (HP:0040303)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 2 (OMIM:614602)
Gene: SKIC2
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 2 (OMIM:614602)
Gene: SKIC2
Phenotype: Diarrhea (HP:0002014)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 2 (OMIM:614602)
Gene: SKIC2
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: SKIC2
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: SKIC2
Phenotype: Infantile onset (HP:0003593)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 2 (OMIM:614602)
Gene: SKIC2
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: SKIC2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 2 (OMIM:614602)
Gene: SKIC2
Phenotype: Woolly hair (HP:0002224)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 2 (OMIM:614602)
Gene: SKIC2
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: SKIC2
Phenotype: Chronic hepatitis (HP:0200123)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 2 (OMIM:614602)
Gene: SKIC2
Phenotype: Brittle hair (HP:0002299)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 2 (OMIM:614602)
Gene: SKIC2
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: SKIC2
Phenotype: Bloody diarrhea (HP:0025085)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 2 (OMIM:614602)
Gene: SKIC2
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: SKIC2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 2 (OMIM:614602)
Gene: SKIC2
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: SKIC2
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: SKIC2
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: SKIC2
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: SKIC2
Phenotype: Villous atrophy (HP:0011473)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 2 (OMIM:614602)
Gene: SKIC2
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: SKIC2
Phenotype: Fetal onset (HP:0011461)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 2 (OMIM:614602)
Gene: SKIC2
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: SKIC2
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: SKIC2
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: SKIC2
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: SKIC2
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: SKIC2
Phenotype: Sparse hair (HP:0008070)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 2 (OMIM:614602)
Gene: SKIC2
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: SKIC2
Phenotype: Uncombable hair (HP:0030056)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 2 (OMIM:614602)
Gene: SKIC2
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: SKIC2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 2 (OMIM:614602)
Gene: SKIC2
Phenotype: Small for gestational age (HP:0001518)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 2 (OMIM:614602)
Gene: SKIC2
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: SKIC2
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: SKIC2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 2 (OMIM:614602)
Gene: SKIC2
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: SKIC2
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: SKIC2
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: SKIC2
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: SKIC2
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: SKIC2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 2 (OMIM:614602)
Gene: SKIC2
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: SKIC2
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: SKIC2
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: SKIC2
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: SKIC2
Phenotype: Premature birth (HP:0001622)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 2 (OMIM:614602)
Gene: SKIC2
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: SKIC2
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: SKIC2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 2 (OMIM:614602)
Gene: SKIC2
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: SKIC2
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)