INT200806

Context Info Confidence 0.39 First Reported 2006 Last Reported 2010 Negated 0 Speculated 1 Reported most in Body Documents 6 Total Number 7 Disease Relevance 4.24 Pain Relevance 0.29

Anatomy Link Frequency germline 1 CFU-E 1 EEC1 (Homo sapiens)

Pain Link Frequency Relevance Heat imagery 73 100.00 Inflammation 21 69.04 cva 4 59.44 alcohol 5 39.48 Piles 5 37.12 Eae 15 5.00 Spinal cord 5 5.00 Dismenorea 5 5.00 depression 5 5.00 withdrawal 5 5.00

Disease Link Frequency Relevance Heat Epispadias 85 99.98 Cyst 7 99.54 Stress Incontinence 185 98.80 Congenital Anomalies 70 98.28 Aneuploidy 5 97.98 Disease 34 97.88 Spontaneous Abortion 10 94.88 Down Syndrome 5 94.88 Bladder Exstrophy 220 94.24 Chromosome Aberrations 5 85.32

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

All sections of the EEC have a specific clinical presentation and are obviously recognized right after birth by the pediatrician and the obstetrician.

EEC Binding (recognized) of

1) Confidence 0.39 Published 2009 Journal Orphanet J Rare Dis Section Body Doc Link PMC2777855 Disease Relevance 0.72 Pain Relevance 0.07

Aneuploidy of sex chromosomes in five of these cases might point to (a) gonosomal loci (locus) involved in the formation of EEC.

EEC Spec (might) Binding (formation) of associated with aneuploidy

2) Confidence 0.39 Published 2009 Journal Orphanet J Rare Dis Section Body Doc Link PMC2777855 Disease Relevance 0.64 Pain Relevance 0

MRI imaging in EEC

EEC Binding (imaging) of associated with imagery

3) Confidence 0.30 Published 2009 Journal Orphanet J Rare Dis Section Body Doc Link PMC2777855 Disease Relevance 0.28 Pain Relevance 0.19

Exstrophy-epispadias complex (EEC), refers to the whole spectrum

EEC Binding (complex) of associated with epispadias

4) Confidence 0.30 Published 2009 Journal Orphanet J Rare Dis Section Body Doc Link PMC2777855 Disease Relevance 0.81 Pain Relevance 0

As for other birth defects, a small subgroup of cases may follow Mendelian inheritance whereas in the majority, EEC is inherited as a complex trait with multiple genetic factors (heritable or de novo somatic or germline mutations), and complex gene-gene, or gene-environment interactions contributing to its formation.

EEC Binding (interactions) of in germline associated with congenital anomalies

5) Confidence 0.29 Published 2009 Journal Orphanet J Rare Dis Section Body Doc Link PMC2777855 Disease Relevance 0.37 Pain Relevance 0

The mastoid antrum was entered and the cyst was excised along its direction to the EEC.

EEC Binding (direction) of associated with cyst

6) Confidence 0.09 Published 2010 Journal BMC Ear Nose Throat Disord Section Body Doc Link PMC2853487 Disease Relevance 0.67 Pain Relevance 0.03

CFU-E from BM or spleen of these recipients showed increased sensitivity to Epo, with about 25–30% of CFU-E growing in the absence of exogenous Epo (Figure 1H), demonstrating the presence of EEC in the polycythemic mice.

EEC Binding (presence) of in CFU-E

7) Confidence 0.03 Published 2006 Journal PLoS ONE Section Body Doc Link PMC1762384 Disease Relevance 0.75 Pain Relevance 0

General Comments

This test has worked.