PedAM

Pediatric Disease Annotations & Medicines


	ichthyosis, x-linked

Disease ID	1367
Disease	ichthyosis, x-linked
Synonym	ichthyoses, sex-linked ichthyoses, x-linked ichthyosis, sex linked ichthyosis, sex-linked ichthyosis, x linked ichthyosis, x-linked [disease/finding] sex-linked ichthyosis ssdd x linked ichthyosis x-linked ichthyosis x-linked ichthyosis (sts, ssdd) x-linked ichthyosis with steryl-sulfatase deficiency x-linked ichthyosis with steryl-sulfatase deficiency (disorder) x-linked ichthyosis with steryl-sulphatase deficiency x-linked recessive ichthyosis x-linked recessive ichthyosis (disorder) x-linked recessive ichthyosis [ambiguous] xli
OMIM	OMIM:308100
DOID	DOID:1700
ICD10	ICD10CM:Q80.1
MeSH	D016114
SNOMED-CT	SNOMEDCT_US_2016_09_01:72523005
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C0027726 \| nephrotic syndrome \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) STS \| 412 \| CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 412 \| STS \| infer
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	1367
Disease	ichthyosis, x-linked
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:6) HP:0007431 \| Congenital ichthyosis HP:0008064 \| Ichthyosis HP:0001939 \| Laboratory abnormality HP:0007759 \| Cloudy cornea HP:0000028 \| Cryptorchidism HP:0002664 \| Neoplasia
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:2) HP:0012588 \| Steroid-resistant nephrotic syndrome \| 1 HP:0000100 \| Nephrosis \| 1

Disease ID	1367
Disease	ichthyosis, x-linked
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:7)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1042522	19065769	7157	TP53	umls:C0079588	BeFree	We investigated p53 codon 72 polymorphism (Arg72Pro) frequencies with respect to the susceptibility and the clinical outcome of patients with STS.	0.00434307	2008	TP53	17	7676154	G	T,C
rs11540654	19065769	7157	TP53	umls:C0079588	BeFree	We investigated p53 codon 72 polymorphism (Arg72Pro) frequencies with respect to the susceptibility and the clinical outcome of patients with STS.	0.00434307	2008	TP53	17	7676040	C	T,G,A
rs137853165	NA	412	STS	umls:C0079588	CLINVAR	NA	0.501639405	NA	STS	X	7325356	T	A
rs137853166	NA	412	STS	umls:C0079588	CLINVAR	NA	0.501639405	NA	STS	X	7334066	G	A
rs137853167	NA	412	STS	umls:C0079588	CLINVAR	NA	0.501639405	NA	STS	X	7305109	C	T
rs137853168	NA	412	STS	umls:C0079588	CLINVAR	NA	0.501639405	NA	STS	X	7325357	G	C
rs137853169	NA	412	STS	umls:C0079588	CLINVAR	NA	0.501639405	NA	STS	X	7334060	A	G

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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