Online Mendelian Inheritance in Man

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I found a pretty groovy site by the above title. I found it through this particular page on Google when looking up Autism and genetics:

http://www3.ncbi.nlm.nih.gov/entrez/dis ... ?id=209850

But the home page to it is below and isn't just about Autism:

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM

Apparently, this site is by Johns Hopkins University.

And check out the Gene Map which is also available at the side bar:

http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi

THIS SITE IS AWESOME!! ! (Look at all those references with the link to their abstracts...)

*extreme and incomprehensible giddiness*

Okay, I am embarrassed to admit this....I don't understand how to use this site other than searching for particular traits. Am I missing soemthing, genetic stuff interests me very much in my goats, and I think I would like this site a lot if I knew how to use it?

Well, I think it's mostly hunting and pecking and doing searches on keywords.I just think that gene map is pretty groovy. I typed in Schizophrenia and it came up with a list of all the genes which are thought to be associated with it.

I looked up a few things, too.

WILLIAMS-BEUREN SYNDROME; WBS
HYPERCALCEMIA, INFANTILE, INCLUDED
Gene map locus 7q11.2

This is the gene my 14yo had tested just this month. The results came back negative, but the geneticist at CHOP (Children's Hosp. of Phila.) said not everyone who has Williams Syndrome tests positive. Based on her accumulation of symptoms from birth to present, she most likely DOES have Williams, but not seriously enough to need advanced medical intervention beyond the capabilities of our family doctor. Academic accomodations and social skills, yes, definitely.

Interesting. I've never had the fortune to meet anyone with Williams Syndrome. I have only seen two shows on them on... Dateline, I think?

But they seem to be fascinating people.

Oh, she's fascinating alright. I'd say Williams Syndrome is probably just about as opposite Asperger's Syndrome as you can get. Makes life verrrrryyyy interesting around here!

I have heard they are INCREDIBLY friendly people. And also have a knack for music. Is this so with your daughter? (the music part I mean)

Quite so.
She is 14yo now, but at 11 she became the youngest member ever in our parish senior choir (largest parish choir in diocese). She's been in the newspaper two or three times becasue she sits front and center (first soprano) in the choir.

She does have a beautiful voice, but she sings almost constantly - at home, in the car, with headphones or without - and that tends to get on my nerves after awhile. I think maybe all of life is running through her head set to music. <--what a concept!

I've read that some people process everything in terms of colors. I think she processes everything in terms of music.

Fascinating!