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	ectodermal dysplasia 1, hypohidrotic, x-linked

Disease ID	1990
Disease	ectodermal dysplasia 1, hypohidrotic, x-linked
Definition	An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ECTODYSPLASIN.
Synonym	anhidrotic dysplasia ectodermal anhidrotic ectodermal dysplasia anhidrotic ectodermal dysplasia 1 anhidrotic ectodermal dysplasia, x linked anhidrotic ectodermal dysplasia, x-linked anhydrotic ectodermal dysplasia, x linked anhydrotic ectodermal dysplasia, x-linked christ siemens touraine syndrome christ-siemens-touraine syndrome cst - christ-siemens-touraine syndrome cst syndrome cst syndromes dysplasia 1, ectodermal ectd1 ectodermal dysplasia 1 ectodermal dysplasia 1, anhidrotic ectodermal dysplasia 1, anhidrotic [disease/finding] ectodermal dysplasia 1, anhydrotic ectodermal dysplasia 1, hypohidrotic/hair/tooth type, x-linked ectodermal dysplasia 1s ectodermal dysplasia, anhidrotic, x-linked ectodermal dysplasia, hypohidrotic, 1 ectodermal dysplasia, hypohidrotic, x-linked ectodermal dysplasia, hypohydridic, x-linked ed1 eda eda1 hed1 hypohidrotic ectodermal dysplasia hypohidrotic ectodermal dysplasia syndrome hypohidrotic ectodermal dysplasia syndrome (disorder) hypohidrotic ectodermal dysplasia syndrome (disorder) [ambiguous] hypohidrotic ectodermal dysplasia syndrome, nos hypohidrotic x-linked ectodermal dysplasia hypohidrotic x-linked ectodermal dysplasia (disorder) syndrome, cst syndromes, cst x linked hypohydridic ectodermal dysplasia x-linked hypohydridic ectodermal dysplasia xhed xlhed
Orphanet	ORPHANET:181 ORPHANET:238468
OMIM	OMIM:305100 OMIM:614941
DOID	DOID:14793
UMLS	C0162359
MeSH	D053358
SNOMED-CT	SNOMEDCT_US_2016_09_01:239007005
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:5) C0025149 \| medulloblastoma \| 1 C0013592 \| ectropion \| 1 C0017920 \| glucose-6-phosphate dehydrogenase deficiency \| 1 C0009319 \| colitis \| 1 C0003090 \| ankylosis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) 128178 \| EDARADD \| GHR 10913 \| EDAR \| GHR;UNIPROT 1896 \| EDA \| CLINVAR;GHR;ORPHANET;OMIM;UNIPROT;CTD_human 60401 \| EDA2R \| ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:25) 55636 \| CHD7 \| 1.171 \| DISEASES 1147 \| CHUK \| 2.964 \| DISEASES 1184 \| CLCN5 \| 1.292 \| DISEASES 1747 \| DLX3 \| 2.269 \| DISEASES 1896 \| EDA \| 7.027 \| DISEASES 128178 \| EDARADD \| 7.229 \| DISEASES 2253 \| FGF8 \| 1.268 \| DISEASES 2263 \| FGFR2 \| 1.348 \| DISEASES 23308 \| ICOSLG \| 1.56 \| DISEASES 3551 \| IKBKB \| 2.157 \| DISEASES 8517 \| IKBKG \| 5.293 \| DISEASES 51360 \| MBTPS2 \| 2.044 \| DISEASES 4487 \| MSX1 \| 3.303 \| DISEASES 8481 \| OFD1 \| 2.143 \| DISEASES 5083 \| PAX9 \| 3.839 \| DISEASES 5230 \| PGK1 \| 2.827 \| DISEASES 8643 \| PTCH2 \| 1.883 \| DISEASES 83695 \| RHNO1 \| 2.205 \| DISEASES 54101 \| RIPK4 \| 2.467 \| DISEASES 2810 \| SFN \| 1.143 \| DISEASES 4068 \| SH2D1A \| 1.181 \| DISEASES 7124 \| TNF \| 3.063 \| DISEASES 55504 \| TNFRSF19 \| 2.951 \| DISEASES 7189 \| TRAF6 \| 3.523 \| DISEASES 7503 \| XIST \| 1.809 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1990
Disease	ectodermal dysplasia 1, hypohidrotic, x-linked
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:11) HP:0002721 \| Immunodeficiency \| 13 HP:0000674 \| Anodontia \| 3 HP:0000164 \| Abnormality of the teeth \| 2 HP:0008070 \| Thinned hair \| 2 HP:0000968 \| Ectodermal dysplasia \| 1 HP:0007529 \| Hidrotic ectodermal dysplasia \| 1 HP:0007607 \| Hypohidrotic ectodermal dysplasia \| 1 HP:0002885 \| Medulloblastoma \| 1 HP:0002583 \| Colitis \| 1 HP:0000656 \| Ectropion \| 1 HP:0000668 \| Failure of development of between one and six teeth \| 1

Disease ID	1990
Disease	ectodermal dysplasia 1, hypohidrotic, x-linked
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Manually Genotypes:1)
Gene	Mutation	DOI	Article Title
EDA	-	doi:10.1038/gim.2015.51	Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability

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

All Snps(Total Genotypes:43)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs132630308	NA	1896	EDA	umls:C0162359	CLINVAR	NA	0.492486326	NA	EDA	X	69616489	T	C
rs132630309	NA	1896	EDA	umls:C0162359	CLINVAR	NA	0.492486326	NA	EDA	X	69616514	G	T
rs132630309	8696334	1896	EDA	umls:C0162359	UNIPROT	X-linked anhidrotic ectodermal dysplasia (EDA) is characterized by abnormal hair, teeth and sweat glands.	0.492486326	1996	EDA	X	69616514	G	T
rs132630310	NA	1896	EDA	umls:C0162359	CLINVAR	NA	0.492486326	NA	EDA	X	69616375	C	T
rs132630311	NA	1896	EDA	umls:C0162359	CLINVAR	NA	0.492486326	NA	EDA	X	69616495	G	A
rs132630312	NA	1896	EDA	umls:C0162359	CLINVAR	NA	0.492486326	NA	EDA	X	69957093	C	T
rs132630313	NA	1896	EDA	umls:C0162359	CLINVAR	NA	0.492486326	NA	EDA	X	69957096	C	T
rs132630314	NA	1896	EDA	umls:C0162359	CLINVAR	NA	0.492486326	NA	EDA	X	69957097	G	A,T
rs132630315	NA	1896	EDA	umls:C0162359	CLINVAR	NA	0.492486326	NA	EDA	X	70027956	C	T
rs132630316	NA	1896	EDA	umls:C0162359	CLINVAR	NA	0.492486326	NA	EDA	X	70028001	G	C
rs132630317	NA	1896	EDA	umls:C0162359	CLINVAR	NA	0.492486326	NA	EDA	X	70035478	G	A
rs132630318	NA	1896	EDA	umls:C0162359	CLINVAR	NA	0.492486326	NA	EDA	X	69616491	C	G
rs387907197	NA	1896	EDA	umls:C0162359	CLINVAR	NA	0.492486326	NA	EDA	X	70033430	C	T
rs397516656	NA	1896	EDA	umls:C0162359	CLINVAR	NA	0.492486326	NA	EDA	X	69616580	-	G
rs397516657	NA	1896	EDA	umls:C0162359	CLINVAR	NA	0.492486326	NA	EDA	X	69616472	T	A
rs397516659	NA	1896	EDA	umls:C0162359	CLINVAR	NA	0.492486326	NA	EDA	X	69616310	T	C
rs397516660	NA	1896	EDA	umls:C0162359	CLINVAR	NA	0.492486326	NA	EDA	X	69616637	C	A
rs397516661	NA	1896	EDA	umls:C0162359	CLINVAR	NA	0.492486326	NA	EDA	X	69616655	T	A
rs397516662	NA	1896	EDA	umls:C0162359	CLINVAR	NA	0.492486326	NA	EDA	X	69957087	C	T
rs397516664	NA	1896	EDA	umls:C0162359	CLINVAR	NA	0.492486326	NA	EDA;MIR676	X	70023246	G	T
rs397516665	NA	1896	EDA	umls:C0162359	CLINVAR	NA	0.492486326	NA	EDA	X	70027876	TGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCC	-
rs397516666	NA	1896	EDA	umls:C0162359	CLINVAR	NA	0.492486326	NA	EDA	X	70027883	AATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCC	-
rs397516667	NA	1896	EDA	umls:C0162359	CLINVAR	NA	0.492486326	NA	EDA	X	70027892	CCAGGACCCCCAGGACCTCCAGGACCCC	-
rs397516668	NA	1896	EDA	umls:C0162359	CLINVAR	NA	0.492486326	NA	EDA	X	70027902	CAGGACCTCCAGGACCCC	-
rs397516670	NA	1896	EDA	umls:C0162359	CLINVAR	NA	0.492486326	NA	EDA	X	70027993	TCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGG	-
rs397516671	NA	1896	EDA	umls:C0162359	CLINVAR	NA	0.492486326	NA	EDA	X	70027937	C	T
rs397516672	NA	1896	EDA	umls:C0162359	CLINVAR	NA	0.492486326	NA	EDA	X	70029527	C	T
rs397516675	NA	1896	EDA	umls:C0162359	CLINVAR	NA	0.492486326	NA	EDA	X	70033426	G	A,T
rs397516676	NA	1896	EDA	umls:C0162359	CLINVAR	NA	0.492486326	NA	EDA	X	70033426	G	-
rs397516677	NA	1896	EDA	umls:C0162359	CLINVAR	NA	0.492486326	NA	EDA	X	70033475	G	A
rs397516679	NA	1896	EDA	umls:C0162359	CLINVAR	NA	0.492486326	NA	EDA	X	70033499	G	A
rs397516681	NA	1896	EDA	umls:C0162359	CLINVAR	NA	0.492486326	NA	EDA	X	70033506	A	G
rs397516682	NA	1896	EDA	umls:C0162359	CLINVAR	NA	0.492486326	NA	EDA	X	70035394	G	T
rs727503007	NA	1896	EDA	umls:C0162359	CLINVAR	NA	0.492486326	NA	EDA	X	70028006	C	T
rs727503008	NA	1896	EDA	umls:C0162359	CLINVAR	NA	0.492486326	NA	EDA	X	70033413	T	-
rs727503010	NA	1896	EDA	umls:C0162359	CLINVAR	NA	0.492486326	NA	EDA	X	70035381	C	-
rs727503011	NA	1896	EDA	umls:C0162359	CLINVAR	NA	0.492486326	NA	EDA	X	70035424	C	T
rs727504417	NA	1896	EDA	umls:C0162359	CLINVAR	NA	0.492486326	NA	EDA	X	70030493	C	T
rs727504537	NA	1896	EDA	umls:C0162359	CLINVAR	NA	0.492486326	NA	EDA	X	69616705	G	A
rs727504649	NA	1896	EDA	umls:C0162359	CLINVAR	NA	0.492486326	NA	EDA	X	69957104	A	C
rs727504814	NA	1896	EDA	umls:C0162359	CLINVAR	NA	0.492486326	NA	EDA	X	69616706	T	G
rs727505013	NA	1896	EDA	umls:C0162359	CLINVAR	NA	0.492486326	NA	EDA	X	69957133	G	A
rs727505089	NA	1896	EDA	umls:C0162359	CLINVAR	NA	0.492486326	NA	EDA	X	69616443	-	GGGT

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.)

Disease ID	1990
Disease	ectodermal dysplasia 1, hypohidrotic, x-linked
Case	(Waiting for update.)