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encyclopedia of Rare Disease Annotation for Precision Medicine

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	child syndrome

Disease ID	1255
Disease	child syndrome
Synonym	child syndrome (disorder) child syndromes congenital hemidysplasia with ichthyosiform erythroderma and limb defects ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs syndrome child
Orphanet	ORPHANET:139
OMIM	OMIM:308050
UMLS	C0265267
SNOMED-CT	SNOMEDCT_US_2016_09_01:17608003
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:13) C0520679 \| obstructive sleep apnea \| 2 C0011334 \| caries \| 2 C0037315 \| sleep apnea \| 2 C0023418 \| leukemia \| 1 C0011334 \| dental caries \| 1 C0023470 \| myeloid leukemia \| 1 C0836924 \| thrombocytosis \| 1 C0023895 \| liver disease \| 1 C0021400 \| influenza \| 1 C1263846 \| attention deficit hyperactivity disorder \| 1 C0004352 \| autism \| 1 C0023467 \| acute myeloid leukemia \| 1 C0041466 \| typhoid \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 50814 \| NSDHL \| CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	Symbol \| Locus(Total Locus:1) NSDHL \| Xq28

Disease ID	1255
Disease	child syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:16) HP:0000670 \| Dental caries \| 2 HP:0002870 \| Obstructive sleep apnea \| 2 HP:0001019 \| Exfoliative dermititis \| 2 HP:0003764 \| Naevus \| 2 HP:0010535 \| Sleep apnea \| 2 HP:0006721 \| Acute lymphocytic leukemia \| 1 HP:0007018 \| Attention deficits \| 1 HP:0001894 \| Thrombocytosis \| 1 HP:0001397 \| Hepatic steatosis \| 1 HP:0002827 \| Hip dislocation \| 1 HP:0001909 \| Leukemia \| 1 HP:0000365 \| Hearing impairment \| 1 HP:0001114 \| Fatty deposits on eyelids \| 1 HP:0000717 \| Autism \| 1 HP:0012324 \| Myeloid leukemia \| 1 HP:0004808 \| Acute myelogenous leukemia \| 1

Disease ID	1255
Disease	child syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C0037284 \| skin lesion
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0037284 \| skin lesion \| 1

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

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

All Snps(Total Genotypes:17)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894901	NA	50814	NSDHL	umls:C0265267	CLINVAR	NA	0.481628651	NA	NSDHL	X	152865888	G	A
rs104894902	NA	50814	NSDHL	umls:C0265267	CLINVAR	NA	0.481628651	NA	NSDHL	X	152865903	C	T
rs104894903	NA	50814	NSDHL	umls:C0265267	CLINVAR	NA	0.481628651	NA	NSDHL	X	152850418	C	T
rs104894904	NA	50814	NSDHL	umls:C0265267	CLINVAR	NA	0.481628651	NA	NSDHL	X	152865819	G	C
rs104894905	NA	50814	NSDHL	umls:C0265267	CLINVAR	NA	0.481628651	NA	NSDHL	X	152862632	G	T
rs104894905	12966526	50814	NSDHL	umls:C0265267	BeFree	Although all of the molecularly diagnosed cases with the CHILD phenotype to date have had right-sided disease, we report here a novel nonsense mutation (E151X) of NSDHL in an infant with left-sided CHILD syndrome.	0.481628651	2003	NSDHL	X	152862632	G	T
rs104894909	NA	50814	NSDHL	umls:C0265267	CLINVAR	NA	0.481628651	NA	NSDHL	X	152858816	C	T
rs104894909	25093865	50814	NSDHL	umls:C0265267	BeFree	Subsequent genetic analysis identified a germline c.324C>T (p.A105V) NSDHL mutation and confirmed a diagnosis of CHILD syndrome.	0.481628651	2014	NSDHL	X	152858816	C	T
rs137853862	NA	50814	NSDHL	umls:C0265267	CLINVAR	NA	0.481628651	NA	NSDHL	X	152858872	G	A
rs137853863	NA	50814	NSDHL	umls:C0265267	CLINVAR	NA	0.481628651	NA	NSDHL	X	152869040	A	C,G
rs141571609	NA	50814	NSDHL	umls:C0265267	CLINVAR	NA	0.481628651	NA	NSDHL	X	152867641	C	A,T
rs587784222	NA	50814	NSDHL	umls:C0265267	CLINVAR	NA	0.481628651	NA	NSDHL	X	152869108	G	-
rs587784223	NA	50814	NSDHL	umls:C0265267	CLINVAR	NA	0.481628651	NA	NSDHL	X	152865870	C	T
rs587784224	NA	50814	NSDHL	umls:C0265267	CLINVAR	NA	0.481628651	NA	NSDHL	X	152867611	G	A
rs587784225	NA	50814	NSDHL	umls:C0265267	CLINVAR	NA	0.481628651	NA	NSDHL	X	152868898	T	-
rs587784226	NA	50814	NSDHL	umls:C0265267	CLINVAR	NA	0.481628651	NA	NSDHL	X	152868900	C	A
rs797045835	NA	50814	NSDHL	umls:C0265267	CLINVAR	NA	0.481628651	NA	NSDHL	X	152869035	-	CATG

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	1255
Disease	child syndrome
Case	(Waiting for update.)

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