TaoMedAI/RareMedData huggingface dataset:
Gene: PERCC1
Phenotype: Punctate keratitis (HP:0011859)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: PERCC1
Phenotype: Corneal erosion (HP:0200020)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: PERCC1
Phenotype: Abnormal large intestinal mucosa morphology (HP:0025090)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: PERCC1
Phenotype: Photophobia (HP:0000613)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: PERCC1
Phenotype: Dehydration (HP:0001944)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: PERCC1
Phenotype: Irritability (HP:0000737)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: PERCC1
Phenotype: Villous atrophy (HP:0011473)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: PERCC1
Phenotype: Villous atrophy (HP:0011473)
Associated disease: DIARRHEA 11, MALABSORPTIVE, CONGENITAL (OMIM:618662)
Gene: PERCC1
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: PERCC1
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: PERCC1
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: PERCC1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: PERCC1
Phenotype: Secretory diarrhea (HP:0005208)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: PERCC1
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: PERCC1
Phenotype: Cataract (HP:0000518)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: PERCC1
Phenotype: Weight loss (HP:0001824)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: PERCC1
Phenotype: Optic disc coloboma (HP:0000588)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: HRURF
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPOTRICHOSIS 4 (OMIM:146550)
Gene: HRURF
Phenotype: Congenital onset (HP:0003577)
Associated disease: HYPOTRICHOSIS 4 (OMIM:146550)
Gene: HRURF
Phenotype: Sparse body hair (HP:0002231)
Associated disease: HYPOTRICHOSIS 4 (OMIM:146550)
Gene: HRURF
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: HYPOTRICHOSIS 4 (OMIM:146550)
Gene: HRURF
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: HYPOTRICHOSIS 4 (OMIM:146550)
Gene: HRURF
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: HYPOTRICHOSIS 4 (OMIM:146550)
Gene: HRURF
Phenotype: Alopecia (HP:0001596)
Associated disease: HYPOTRICHOSIS 4 (OMIM:146550)
Gene: HRURF
Phenotype: Uncombable hair (HP:0030056)
Associated disease: HYPOTRICHOSIS 4 (OMIM:146550)