PedAM

Pediatric Disease Annotations & Medicines


	ectodermal dysplasia

Disease ID	1500
Disease	ectodermal dysplasia
Definition	A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and hidrotic dysplasias, FOCAL DERMAL HYPOPLASIA, and aplasia cutis congenita.
Synonym	cong ectodermal dysplas congen ectodermal defect congenital ectodermal defect congenital ectodermal defect (disorder) congenital ectodermal defects congenital ectodermal dysplasia defect congen ectodermal defect, congenital ectodermal defects, congenital ectodermal dysplasia ectodermal dysplasia, ectodermal dysplasias, ectodermal ectodermal defect congen ectodermal defect, congenital ectodermal defects, congenital ectodermal dysplasia (disorder) ectodermal dysplasia [disease/finding] ectodermal dysplasia, nos ectodermal dysplasias
DOID	DOID:2121
UMLS	C0013575
MeSH	D004476
SNOMED-CT	SNOMEDCT_US_2016_09_01:254154003;SNOMEDCT_US_2016_09_01:8654005
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:17) C0025958 \| microcephaly \| 2 C0085113 \| neurofibromatosis \| 2 C0031511 \| pheochromocytoma \| 2 C0009319 \| colitis \| 1 C0035321 \| retinal tear \| 1 C0003090 \| ankylosis \| 1 C0017920 \| glucose-6-phosphate dehydrogenase deficiency \| 1 C0025362 \| mental retardation \| 1 C0349788 \| arrhythmogenic right ventricular cardiomyopathy \| 1 C0035459 \| atrophic rhinitis \| 1 C0029454 \| osteopetrosis \| 1 C0025149 \| medulloblastoma \| 1 C0006840 \| candidiasis \| 1 C0008925 \| cleft palate \| 1 C0013592 \| ectropion \| 1 C0456909 \| vision loss \| 1 C0002895 \| sickle cell disease \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) ITGB4 \| 3691 \| CTD_human GJB6 \| 10804 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	1500
Disease	ectodermal dysplasia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:31) HP:0002721 \| Immunodeficiency \| 25 HP:0000674 \| Anodontia \| 5 HP:0000668 \| Failure of development of between one and six teeth \| 4 HP:0000677 \| Failure of development of more than six teeth \| 2 HP:0000252 \| Small head circumference \| 2 HP:0001067 \| Neurofibromas \| 2 HP:0002666 \| Pheochromocytoma \| 2 HP:0000164 \| Abnormality of the teeth \| 2 HP:0000656 \| Ectropion \| 1 HP:0008070 \| Thinned hair \| 1 HP:0000175 \| Palatoschisis \| 1 HP:0001510 \| Growth deficiency \| 1 HP:0003508 \| Short stature, proportionate \| 1 HP:0200041 \| Skin erosion \| 1 HP:0003498 \| Disproportionate short stature \| 1 HP:0001155 \| Hand anomalies \| 1 HP:0040189 \| Desquamation \| 1 HP:0000572 \| Visual loss \| 1 HP:0011002 \| Osteopetrosis \| 1 HP:0045075 \| Hypotrichosis of eyebrow \| 1 HP:0001159 \| Webbed fingers or toes \| 1 HP:0002583 \| Colitis \| 1 HP:0002224 \| Woolly hair \| 1 HP:0011958 \| Retinal perforation \| 1 HP:0001249 \| Mental retardation \| 1 HP:0000047 \| Hypospadias \| 1 HP:0012165 \| Oligodactyly \| 1 HP:0011663 \| Cardiomyopathy, right ventricular \| 1 HP:0002885 \| Medulloblastoma \| 1 HP:0002006 \| Tessier facial cleft \| 1 HP:0004322 \| Stature below 3rd percentile \| 1

Disease ID	1500
Disease	ectodermal dysplasia
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0021051 \| immunodeficiency \| 21

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

All Snps(Total Genotypes:1)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs137853327	24100029	8517	IKBKG	umls:C0013575	BeFree	Here, we investigated the effect of the D406V mutation found in the NEMO ZF of an ectodermal dysplasia with immunodeficiency patients.	0.010887469	2014	IKBKG	X	154564418	A	T

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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