# survey

human_id: hu4A2DC0
date: 2011-07-15 19:08:04
phenotype: Yes
phenotype_category:
  Participant_Survey:Have you uploaded health record data using our Google Health or Microsoft Healthvault interfaces?


human_id: hu831FD6
date: 2011-07-15 19:27:25
phenotype: Long QT Syndrome
phenotype_category:
  Participant_Survey:Do you have a severe genetic disease or rare genetic trait? If so, you can add a description for your public profile.


human_id: huD09050
date: 2011-07-15 19:28:37
phenotype_category:
  Participant_Survey:Do you have a severe genetic disease or rare genetic trait? If so, you can add a description for your public profile.

phenotype:
  1. Extreme susceptibility to motion sickness. - answers pertain to this trait2. Pyloric stenosis3. Unusually small feet for my height


human_id: hu41F03B
date: 2011-07-15 23:21:22
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  Neuropsychological test results from 2009: WAIS-IV, and other test results.EEG results: P50 suppression index (measure of sensory gating)


human_id: huDFBF54
date: 2011-07-16 02:52:38
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  Too much to describe --- but perhaps my listing of IDDM (insulin dependent diabetes ...) is a stretch as it is only thought to be partially genetically driven ...


human_id: hu3BE6EF
date: 2011-07-16 09:23:56
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I inherited Autosomal Dominant Polycystic Kidney Disease (ADPKD) from my father, as did two of my siblings. I learned recently that I also have a very mild form of Von Willebrand Disease. 


human_id: hu3BE6EF
date: 2011-07-16 09:23:56
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  I'm part of a study -- taking an experimental drug called Tolvaptan that may prove successful in treating PKD. As part of that study, an MRI of my kidneys is taken once a year. Perhaps that MRI could be uploaded. 


human_id: hu04A590
date: 2011-07-16 10:21:47
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I can wiggle my ears.  My father could also wiggle his ears.  I remember that, as a small child, after having seen him do this once to make me laugh, I tried it and had no problem wiggling my own ears, so I am guessing this is an inherited trait rather than a learned ability.


human_id: huC4A276
date: 2011-07-16 10:56:08
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Gluten intolerance - I am unaware of anyone else in my family having this disorder.  I do not have the known genetic profile for celiac however I have a profound intolerance that mimics celiac.  I would guess that it is genetic but that the genetics are unknown.Alzheimer's - I do not display symptoms, at this time my mother doesn't display symptoms, she is 67, her sister (my aunt has symptoms starting around 70).  My grandmother had symptoms staring in 50s.  She had 5 siblings that made it to adulthood, one sister had symptoms starting in her 50's, one had symptoms in his 70s,  the other two did have symptoms that I know of.  My aunt who has symptoms currently has 4 children, I do not know if they would be interested in PGP, but I would be willing to ask them.  High Cholesterol, not rare but probably genetic, my sister has it as does my mother.


human_id: huE2E371
date: 2011-07-16 11:20:08
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  orthostatic hypotension: under continuous treatment * described belowpsoriasis: under continuous treatmentocular melanoma: treated June 2006 by Plaque Radiationthyroid papillary carcinoma - follicular variant: complete thyroidectomy Dec 2010


human_id: hu5C3F07
date: 2011-07-16 11:50:21
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Carrier of 2 ApoE4 alleles (significantly increased risk for late-onset Alzheimer's disease). Cystic fibrosis carrier (CFTR gene mutation).


human_id: huBA2A39
date: 2011-07-16 11:50:43
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  MS diagnosed in 1990 as Chronic ProgressiveLow blood formation also known as %22pre-lukemia%22 diagnosed in 2009


human_id: huBA2A39
date: 2011-07-16 11:50:43
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  A series of MRIs every 2 years from diagnosis (do not have original test) to present.Blood test results and cyto test (I will provide true name on request - I just cannot remember the correct name just now)


human_id: hu433D3A
date: 2011-07-16 11:59:31
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  1) Morbid Obesity (note: age of onset hard to pin down as I was a weight cycler.  Worst after 50, however)2) Need peace and quiet 


human_id: hu61C43A
date: 2011-07-16 11:59:42
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  The rare trait that I believe to have some genetic component is being transgender. While this condition is very rare and has been little studied, I am very willing to be a part of discovering the whys and wherefores of this trait.


human_id: hu92FD55
date: 2011-07-16 12:30:40
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Father over age 35: Increases chances of genetic mutation.Anyways, I seem to have a uniquely severe case of combined Asperger's+ADD that doesn't exactly totally map with the symptoms mapped by the DSM-IV. And for whatever reason, I'm very strongly novelty-seeking.Personality-wise though, people say that I'm the most unique person that they've ever met. Also, I seem to have a very strong sensory hypersensitivity issue (I go to all sorts of doctors but none of them seem to have any ideas about it). 


human_id: hu6AE31C
date: 2011-07-16 12:34:58
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I don't know if this is 'rare enough,' but I am the only one in my family with red hair & freckles- my mother is Danish & my father has Spanish origins.


human_id: hu144601
date: 2011-07-16 12:41:48
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  I have had Celiac Blood Panel done and also an endoscopy with biopsy done on small intestine/jejunum.


human_id: huAA53E0
date: 2011-07-16 12:51:32
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I believe several traits are genetic in nature1. %22Blue rubber bleb nevus syndrom%22 connected to TEK tyrosine kinase mutation (http://en.wikipedia.org/wiki/Blue_rubber_bleb_nevus_syndrome) 2. Narcolepsy and %22Delayed sleep phase syndrome%22 There are a few more but I believe these two are the easiest to focus on. 


human_id: huAA53E0
date: 2011-07-16 12:51:32
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  I have a letter from the oncologist at OCB (Ophthalmic Consultants of Boston) to my PCP describing this condition (BRBNS)


human_id: huA872A6
date: 2011-07-16 12:57:56
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Severe life-long depression; all of my sibs (5) have it and my mother but not my father.  I will answer the following questions about this one.cleft palate without cleft lipwhite forelock


human_id: huD7960A
date: 2011-07-16 13:03:26
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I have a disorder that falls within the phenotype of a severe form of hypokalemic periodic paralysis. It seems to have an autosomal dominant pattern on my father's side of the family, and includes daily weakness and loss-of-consciousness episodes coming from food.  For me, there is also documented full-body paralysis including full breathing paralysis (causing an emergency) and many other abnormal and severe reactions to many common hospital medications. Like other forms of hypokalemic periodic paralysis, the age of onset of the symptoms for me was at 20 years of age. The next generation in the family is now beginning to be affected. Unlike other forms of PP, my symptoms include cardiac symptoms, CNS symptoms and pancreatic symptoms, all in response to food. There are many severe medication reactions, of course.I have had genetic tests for the most common genes for periodic paralysis, but these tests were negative, likewise negative tests for the common pseudocholinesterase deficiency genes.I have been told that the cause is most likely a %22medically new%22 channelopathy. If so, it is currently undiscovered.My own feeling is that the disorder is more severe for me because of the effects of several genes, not just one gene. In particular, I suspect the main abnormality is in genes that are directly or indirectly involved in the potassium ATP channels, which could explain why I have such severe symptoms.


human_id: huD7960A
date: 2011-07-16 13:03:26
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  1. I have a letter from the anesthesiologist who describes one of my paralytic reactions that caused breathing paralysis, and what he did about it. 2. I have EKG's from a Holter test that document unusual cardiac reactions. Before eating, the EKG looked very good and the heart rate was 60 bpm. After eating, tachycardia took place, where the resting heart rate rose to 128 bpm and there were many arrhythmias and irregularities. The EKG's didn't even look like EKG's anymore. The episodes lasted for about 5 hours, slowly subsiding almost to normal again at the end, but then it was time for the next meal. Because there were three meals, about five hours apart, there were fifteen hours of abnormal EKG patterns, all subisiding by the end of the 5 hour interval, recorded on the Holter.


human_id: hu61CF9B
date: 2011-07-16 13:15:05
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I am diagnosed with Asperger's Syndrome (Autism Spectrum Disorder). I have a clinical diagnosis from an autism specialist here in New York City. I have also participated in several brain imaging studies in Boston. I have a research diagnosis of Autism Spectrum Disorder. I was given the ADOS and my mother was given the ADI in order to qualify me for a study. My autistic disorder has affected my ability to work and establish social relationships.


human_id: hu61CF9B
date: 2011-07-16 13:15:05
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  MRI of brain. Letters from researchers describing results of tests (with identifying parts redacted).Results of IQ test.Results of ADI/ADOS tests.Results of other miscellaneous studies I had been in.


human_id: huD37D14
date: 2011-07-16 13:25:07
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I have an autoimmune disease which was first diagnosed as Crohn's. It has manifested in other symptoms diagnosed as Sjogren's and Vitiligo both of which my sister also has.My sister and I both have the HLA-B27 antigen, which i have been told is rare for caucausians, I have also been + for the rare RNP antigen which I've been told is indicative of Connective Tissue Disease, though it is not yet active (I was just tested last year and was negative, but told that it fluctuates when inactive).When active, this disease is severe and often fatal. Right now, I am battling constant fibromyalgia-like pain and arthritic pain but am monitored.


human_id: huD37D14
date: 2011-07-16 13:25:07
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  Have some lab results from Kaiser for antigens (not latest -RNP result) also any Colonoscopy/pathology reports if needed for Crohn's diagnosis. Have additional records for abnormal Bravo pH study prior to Nissan Fundiplication surgery for GERD. Also, visit summary from a Rhuematology specialist post RNP+ (pre-vitaligo). Can obtain dermatology reports if necessary.


human_id: hu162513
date: 2011-07-16 13:26:47
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Stroke, with associated hypertension.I had a stroke at age 50, my father had it at the same age, but pasted away from a traffic accident. My uncle (father’s brother) and my father's first cousin past away from a stroke at 52.


human_id: hu263CFD
date: 2011-07-16 13:31:16
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I have two diseases that I believe have a strong genetic link.  The first is psoriasis on my hands and feet, that goes into remission for years and then reappears.  This is the condition I will use for answering the questions below.  The other condition which may have a gnitic component is super ventricular tachycardia.


human_id: hu3A1B15
date: 2011-07-16 13:32:40
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I have an expanded CAG repeat of 37 in the huntingtin gene, but am asymptomatic (at age 37). CAG repeats of 40 and above are fully penetrant for Huntington's Disease (HD), a rare, fatal neurodegenerative, autosomal dominant disease for which there currently exists no treatment. Although the most common age of onset for HD for those with 40 or more CAG repeats is the 30s, age of onset varies considerably and is inversely correlated with number of CAG repeats. That said, the number of repeats does not account for all of the variation in age of onset, and the conventional wisdom is that secondary genes likely account for the remaining variation.CAG repeats between 35 and 39 (roughly) are associated with reduced penetrance. While clinical HD is rare, %22intermediate range%22 HD alleles, both expressed and unexpressed, are even rarer, at least as represented in the clinic and in the literature. When I was tested, circa 2002, predictions about probability of developing HD within a normal lifetime were based, for each allele in the 35-39 range, on an n of a handful individuals. Based on that data, I was told that the 37 allele confers roughly a 50% chance of developing HD within a normal lifespan, with age of onset varying considerably among the handful of known symptomatic individuals, from the early 30s to the 80s. That said, more recent research questions the basis on which these predictions were made. It's likely that those with intermediate range alleles who are symptomatic or whose relatives (with whom they share secondary genes that may influence penetrance) are symptomatic are probably overrepresented (relative to others carrying an intermediate range allele) in the clinic and, thus, in the data. The incidence of intermediate CAG expansion is almost certainly much higher than the literature suggests, and may be higher than the incidence of 40+ CAG expansion, especially given the possibility of de novo mutations.The parent from whom I inherited this allele also has a 37, is also asymptomatic (at age 62), and has expressed interest in participating in genetic research that may advance knowledge about HD. This parent was also comfortable undergoing partial sequencing (not, of course, including the huntingtin gene) through 23andMe. The grandfather from whom I inherited the allele was asymptomatic for HD upon death (in his early 80s), per clinical evaluations and as confirmed through analysis of brain tissue samples sent to MacLean's (the tissue showed one of the most advanced cases of Alzheimer's-related atrophy, etc. they had ever seen, but no signs of HD). That sample, sent around 2000, may still be available.Members of my extended family have various fully-penetrant alleles (e.g., 45) and to date one member has died from HD. But they would not be interested in participating in the PGP. 


human_id: hu7DE7FD
date: 2011-07-16 13:33:23
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  Multiple Sleep Latency Test, negative other tests that rule out other causes of excessive daytime sleepiness, possibly EEG (not sure what format it is in or how accessible it is -- will ask my doctor).


human_id: hu5E3BEB
date: 2011-07-16 13:40:15
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Hypospadia, undescended testicles, micro penis I have two 1st cousins and 1 nephew that have 1 or more of these traits. All of us required surgery to correct. None are interested in being part of the PGP. This is the one I am continuing the survey on.I also had 2 bouts of spontaneous collapsed lung (left) and I have 1 1st cousin that also had this. He is also not willing to be part of the PGP. I underwent surgery he did not.


human_id: hu76CAA5
date: 2011-07-16 13:59:12
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Paroxysmal atrial fibrillation with rapid ventricular response. I have had three emergency electrical cardioversions for the condition, but I have been free from recurrences since starting the extended release form of propafenone (325 mg capsule BID). My maternal grandfather died from stroke at about age 72 in the early 1960s in rural Texas, & was being treated with digitalis for a diagnosis that we do not currently have on record. My mother's fraternal twin sister has been off & on coumadin for atrial fib, & my mother, myself & several others in the family show a 33.9% risk for atrial fib projected by 23andMe. The inheritance pattern is clearly my maternal line. 


human_id: hu76CAA5
date: 2011-07-16 13:59:12
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  Cardioversion records are available in my Google Health account, & I have already made my 23andMe raw data available to the PGP.


human_id: huE3FDE9
date: 2011-07-16 14:01:08
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Severe depression, diagnosed as Bipolar disorder.  My mother was institutionalized, my brother committed suicide last year, and I am on Disability and unable to work or function normally in society, even with intensive therapy and medication.


human_id: huBAA265
date: 2011-07-16 14:01:50
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I am chronically ill and believe that I have several conditions that are genetic in origin, however I will complete the remaining questions with my answers relating to the Porphryia.  I'm only going to list the disease I consider to be relatively rare below (although I also have hypothyroidism, heart disease, gallbladder disease, fibrocystic breasts, upper airway resistance syndrome, ablated Wolfe-Parkinson-White Syndrome and an ectopic kidney):-Porphyria (probably Erythropoietic protoporphyria or Hereditary Coproporphyria) (undetected by Mt. Sinai genetic study)-Phenol sulfotransferase deficiency--Congential Nonspherical Hemolytic Anemia (in remission)


human_id: huE7765D
date: 2011-07-16 14:11:45
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Blod cloth formation without any obvious reason.  Pulmonary embolism.  One of my first cousin died because his blod coalugated all over in his body.


human_id: huFABE5E
date: 2011-07-16 14:43:40
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  My family history has significant auto-immune disease.Celiac Sprue: father and sister - Hypothyroid: father and me - Dairy allergy: nephew and me - Rheumatoid arthritis:  mother (very severe and active for decades) - Diabetes:  son - Kidney failure: father (no alcoholism or drug use) -Pernicious anemia: father and mother


human_id: hu7D6AB1
date: 2011-07-16 14:54:45
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I had no risk factors for a coronary disease, however, out of nowhere, in August 2009, I discovered that I had 6 blockages in the 3 main arteries going to the heart. As a result, I had to have a triple bypass operation. It was totally successful and I am fine now. the doctors were extremely surprised to see that and could only say that it must be genetic since my mother had heart disease. 


human_id: hu1BD549
date: 2011-07-16 15:33:59
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I have several genetic diseases, some rare some common:Long QT syndrome (some of the variants causing this (~75%) have been identified.  I have a variant but it is a new one that has not been confirmed.Type 1 DiabetesAntiphospholipid antibody syndrome(Both autoimmune disease, linked to SNPs in the HLA region of Chr 6)


human_id: hu1BD549
date: 2011-07-16 15:33:59
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  LQTS: genetic tests performed by GeneDx and EKG interpretationsAutoantibody test results for T1DM and APS


human_id: huF83462
date: 2011-07-16 16:06:46
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  I was diagnosed and am being treated at Stanford University Movement Disorder Clinic. I can ask them for documentation


human_id: huF160AA
date: 2011-07-16 16:12:22
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Long term non-progressor for HIV - 25 years without antiviral medicationHLA B35 allele Heterozygous CCR5  Delta 32 deletion


human_id: huF160AA
date: 2011-07-16 16:12:22
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  Results of blood tests for CD4/CD8 counts, HIV,  genetic HLA typing etc.  CD4/CD8 count history dates from 1986 - presentYou may also want to request results from any of the several research studies in which I participate as they have more detailed informationDr. Jay Levy  at UCSFSCOPE at S F General HospitalHIV Elite Controller research at NIH/NIAD in clinic OP8 - Dr. Mark Connors / Dr. Steve MiguelesHIV Elite Controller research at MGH - Dr. Bruce Walker / Ragon Institute


human_id: hu016B28
date: 2011-07-16 16:12:50
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Cervical Spinal Stenosis (required laminectomy and fusion from C2-T1).  It was a congenital narrowing that manifested with symptoms in my mid-30s.


human_id: hu174334
date: 2011-07-16 16:17:09
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Severe-Squamous cell cancer (SCC) x9 (skin), after Stevens Johnson Syndrome (SJS), right groin hematoma became SCC.  Surgeon believes SSC from SJS with 2 surgeries, chemo and radiation, and if so could be Muir Torre or Lynch Syndrome and both are genetic.  My mother (jaw-mandible, tongue) and her sister (pelvic) both had SCC. Age 78 acquired for me.Congenital trait-I was born with 6 fingers, my sister, 6 fingers and 6 toes (deceased) and my younger brother 3 nipples (deceased). I also have 1 extra cervical rib.Congenital- father-severe scoliosis- I have mod. cervical 5-6, lumbar 4-5, 2 of my children have mild.  I have one niece who has one child has scoliosis and had rod placement several years ago.


human_id: hu174334
date: 2011-07-16 16:17:09
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  Diagnosis-Stevens Johnson Syndrome 10/2009 following severe drug reaction to Septra DS, with 2 hospitalizations, several PET scans and ultrasound showing hematoma right groin 2008, 11/09 DVT and right groin adenopathy, surgery 3/10 right groin SCC, 4/10 neg. Pap, 8/10, small Basal Cell Cancer removed from right scapula (pustule from SJS Hx) 7/10, another right groin SCC, 8/10 VAIN 3, 12/10, negative PET scan, 6/11-neg Pap.


human_id: hu42CA7C
date: 2011-07-16 16:37:55
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  I am 55 years of age and have lab results for my cholesterol that go back to age 20 since I worked in a clinical lab. My total cholesterol and LDL levels are typically sky high - above 300 mg/dl.  And my HDL levels are moderately low, below 50 mg/dl. Not conferring on me the numerical protection normally associated with high HDL levels. Despite this I have no apparent cardiac myopathy or artherosclerosis normally associated with such high levels. This means there are more cards in the cholesterol game than we currently understand. My high levels remain relatively untreated due to the fact that statin drugs give me instant tendonitis, also likely a genetic trait.


human_id: hu351AF9
date: 2011-07-16 17:31:37
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  autoimmune diseaseseyeritislikely Rheumatoid ArthritisCyst in the Anklecontct dermatitisvitiligoleft orvhiectomy


human_id: huEEE6E8
date: 2011-07-16 17:46:51
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  The rare trait is transient mild Alopecia Areata, which I am hoping to tested as part of the MJF project.


human_id: huD81276
date: 2011-07-16 18:49:16
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  There seems to be a strong propensity in my family toward bipolar disorder, depression, and chronic substance abuse. Many family members died at young age connected with this. I have been treated for mental illness myself and some of my children have issues with this as well


human_id: hu99967E
date: 2011-07-16 19:56:12
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  During a full Sequence of my mtDNA it showed a mutation known as %22heteroplasmy.%22  My heteroplasmy mutation is listed as 16368T/C.


human_id: hu4C20BC
date: 2011-07-16 21:09:07
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I have had two episodes (for three years starting at age 13, and an ongoing episode beginning at age 23) of severe depression. Other family members have been diagnosed with or have exhibited clear symptoms of the disease.


human_id: hu4C20BC
date: 2011-07-16 21:09:07
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  I would be willing to make a psychiatric evaluation and a medication history available on my public profile.


human_id: hu6D1115
date: 2011-07-16 21:47:13
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  high homocysteinethe answer below is when I first became aware of it as a result of my father's heart attack.


human_id: hu6D1115
date: 2011-07-16 21:47:13
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  Last year I was tested by a pediatric geneticist at UCLA who specializes in the condition in newborns. It was determined that I am hetrozygous for the MTHFR C677T variant. Many years prior to that my father's cardiologist reported that he had the highest homocysteine ever seen by a lab in Western Canada and recommended that he tell his offsprings to be tested for the condition. My homocysteine level was found to be quite high though it has subsequently been reduced by treatment. I have entered both my initial and my current homocysteine levels in Google Health.


human_id: hu868880
date: 2011-07-16 21:54:55
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Though I am only 52, I have experienced a number of significant medical issues that may well be characterized as rare or severe:At 28 I was diagnosed with massive brain bleed and underwent a craniotomy for a partial resection of my left parietal lobe.  Though there was a significant loss of brain due to both the bleed and surgery, there were no obvious neurological after effects, leading my neurologist to conclude that the bleed was congenital (AVM) and had been present since birth, resulting in constant small damage, and allowing my brain to rewire itself as it developed (rather than the trauma that would result if the same area of my brain were damaged in adulthood all at once.At 47 I was diagnosed with Kidney Cancer (renal cell carcinoma) via an incidental finding during an appendectomy follow-up.At 48, while recovering from the Kidney Cancer surgery, I began to have movement difficulties and was eventually diagnosed with a 6.5cm meningioma that was removed via craniotomy (and was located proximate to the previous AVM surgery) - subsequently additional small tumors (also meningioma or perhaps schwanoma) have been discovered via imaging.And last, but not least, I am transgender (MtF), an awareness I have had since I was approx. 2 years old (and well before I had the vocabulary or analytical tools to understand what it meant.)


human_id: hu868880
date: 2011-07-16 21:54:55
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  With respect to my meningiomas, I underwent an NF2 test (which turned out to be negative), but I have all of my brain MRI's available as DICOM files, showing both the meningiomas as well as the 'hole' left from the AVM resection. I would also be willing to share my doctor's notesWith respect to my kidney cancer, i have CT scan files available as DICOM files, and would also be willing to share my doctor's notes.


human_id: huBEDA0B
date: 2011-07-16 22:14:51
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Vascular hemangiomas ( several family members have these)benign breast lumps ( my mother had them. - about 8 surgically removed)


human_id: huBEDA0B
date: 2011-07-16 22:14:51
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  I have bunch of records including surgeon's report5)-5 I should have sent to you.  I will se if I can find them.


human_id: huA33758
date: 2011-07-16 22:31:28
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I have extra processes on my clavicles, as well as mandibular tauri, both of which traits my mother and sister also have.


human_id: hu5917F3
date: 2011-07-17 00:21:11
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  I have had MRIs and spinal fluid analysis to confirm diagnosis of Multiple Sclerosis and also several followup MRIs to follow progress of the disease.  I do not have the MRI films or lab results in my possession, but they are available and I believe I can request copies of them if that would be advantageous to the project.


human_id: hu4D474D
date: 2011-07-17 00:55:57
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I'm not sure if this counts as a rare trait but I'm gay and I believe that being gay has a strong genetic connection.


human_id: hu3B8141
date: 2011-07-17 03:03:56
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Atrial Node growth causing atrial fibrillation. I recently had a MAZE procedure to ablate and isolate the extra nodes as well as left atrial appendage removal.


human_id: hu005725
date: 2011-07-17 03:55:33
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Depression and possible bipolar disorder. Males especially over generations have had this.Also Meniere's disease, idiopathic, but many family members have it so who knows.Thyroid disease is also rampant in my family, virtually all females have it, some males.


human_id: hu5B337F
date: 2011-07-17 05:55:21
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I consider my homosexuality to be a genetic trait. Most data that I have seen and read points to sexuality being genetic, and I know for sure that I made no choice in acquiring it. As this means the most to me, the answers will pertain to this.Bipolar disorder. As far as I know this is both genetic and environmental. I have never been professionally diagnosed, but I have talked with professionals who agreed with my diagnosis. 


human_id: huDA2757
date: 2011-07-17 07:19:09
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Multiple:My IQ consistently tests over 160, and typically in the 170-180's, for spatial skills and mathematic comprehension.  Verbal ability is within the high end of %22normal%22.I also have %22atrial branch delay%22 as described by a cardiologist.  I have relevant medical data and testing information for this, but even with my EMT certification, this issue is too specific for me to describe after reading the information.  A cardiologist would have to comment on this further.  From what I understand, this is a rare, but trivial, electrical defect in the heart.Further, I have recently been diagnosed with migraines, which apparently affects <1% of adult males.And finally, I was tested at age 18 to have 115% of normal tidal volume for my external body measurements, and have been able to achieve a *standing* heart rate of 40 beats per minute due to exercise alone.


human_id: huDA2757
date: 2011-07-17 07:19:09
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  Mensa test results for IQ.And, for heart information, all medical information should still be on file at the cardiologist's office to include NMRI, holter moniter data, echocardiogram video, stress test and EKG.


human_id: hu78E6A9
date: 2011-07-17 10:01:31
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Amyblyopia: vision uncorrected is 20/200 in one eye, 20/50 or better in the other. My father has the same. 


human_id: hu78E6A9
date: 2011-07-17 10:01:31
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  I could easily provide prescription for corrective lenses. I would not mind sharing records from my opthalmologist but would have to pursue gathering these.


human_id: huA0E089
date: 2011-07-17 11:10:50
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I have facioscapulohumeral muscular dystrophy or FSHMD. There are 4 generations known in my family who have the disease.  I have lupus anticoagulant.  It is kind of a misnomer because it has nothing with lupus eryrathematosis.


human_id: hu838AF4
date: 2011-07-17 11:27:18
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I have Factor XI deficiency, formerly known as  hemophilia C. It is thought to occur in 1 in 100,000 people, and mostly in those of Ashkenazi jewish descent (there are no such known people in my genetic family history). 


human_id: hu838AF4
date: 2011-07-17 11:27:18
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  I have had my Factor XI levels measured and they are 50% of normal. I was tested because my daughter was found to have this same condition.


human_id: huA4E2CF
date: 2011-07-17 11:30:22
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  I do not have the x-ray in my possession however I am willing to provide such through my medical provider.


human_id: hu77CC58
date: 2011-07-17 12:23:12
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Diagnosed with a rare CNS tumor: myxopapillary ependymoma of the filum terminale.  Incidence one in a million per year, roughly.  The tumor was present from the age of 18 or earlier.  Successfully removed at age 27.


human_id: hu27FD1F
date: 2011-07-17 13:19:37
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Autosomal dominant non-syndromic progressive sensorineural hearing impairment. It is detectable in early childhood and progresses gradually to the point where cochlear implants are indicated in older family members.Our extended family has participated in several genetic studies, but the gene has not been identified. By testing at 23andMe for six relatives with the impairment and several without, I have been able to narrow down the region to about 16Mb on chromosome 15. I also have father/mother/child data for phasing and I can identify the haplotype. None of the 50+ genes currently implicated in hearing loss are found in this region, and in fact, no genes clearly identified with hearing function in general. Identification of the mutation in our family would thus contribute to the understanding of genes important for normal function.


human_id: huC9ADBC
date: 2011-07-17 14:38:27
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  Blood measurements of multiple types of thyroid hormones.White blood cell count.Liver enzyme tests.Cholesterol tests.


human_id: huF09EFF
date: 2011-07-17 20:46:45
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Extremely high cholesterol and triglycerides.  Max readings are around 600 chol and 1500 trig.  Normal being <200 chol and 150 trig.


human_id: huAA67BC
date: 2011-07-17 21:25:13
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I was born with a hereditary geniospasm (quivering chin) that every male in my patrilineal family has had. My father, grandfather, great uncles and other members have all shared this trait.


human_id: huAA245C
date: 2011-07-17 22:07:33
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I've had a craniopharyngioma (2 years ago), Juvenile Rheumatoid Arthritis (until age 8), and dextrocardia (right-sided heart) 


human_id: hu4D4061
date: 2011-07-18 01:06:53
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  My diagnosis is Chronic Daily Migraine (possibly New Daily Persistent Headache).  My recollection is that I got a headache as a child that never went away.  I have had some level of headache pain every second of every day since the age of 13.  The pain escalated and has been extremely debilitating from age 33 to now, age 45.  On the paternal side of my family, autoimmune diseases are common.  My PGM , while in her 30's, developed severe rheumatoid arthritis, and all of her children seeminly have autoimmune issues.  My father has allergies, asthma, and atrial fibrillation.  My paternal aunt has Raynaud's Disease and allergies.  My paternal uncle has MS.  Another aunt has eczema and cancer.  There is one paternal, female cousin who is older than I am, and she has either chronic fatigue or fibromyalgia.


human_id: hu4D4061
date: 2011-07-18 01:06:53
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  I have my military childhood health records documenting the onset of the illness.  I have been approved by Social Security for disability.  I have MRIs and blood tests.  I have been treated by several prominent neurologists.


human_id: huB3255F
date: 2011-07-18 01:43:55
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  bloodwork demonstrating chronically low levels of platelets. also previous generations of my family have had genetic testing and were written up in the annals of internal medicine in 1981, for being the %22first documented case of familial autoimmune thrombocytopenic purpura with bound platelet antibody%22 and i could upload that article as well.


human_id: huC170B1
date: 2011-07-18 03:26:59
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Reciprocal genetic translocation  of 1st and 4th chromosomes, karyotyped at birth, no apparent signs of translocation manifesting in health. 


human_id: huE2A55D
date: 2011-07-18 07:05:21
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Rheumatoid Arthritis.  I was diagnosed several years ago, and I am told that researchers think there may be a genetic element to this and other autoimmune diseases.


human_id: huCE415E
date: 2011-07-18 11:07:48
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I have Gilbert syndrome, I had a cousin with Tey Sachs disease, My father died of Spontaneous idiopathic CJD disease, I an an Russian Jewish origins. I will answer for Gilbert disease


human_id: hu86AA7A
date: 2011-07-18 11:26:04
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  My mother's mother died from a liver cancer. My mom died from stomach cancer. Now I have a fatty pancreas and a fatty liver disease.


human_id: hu27E03F
date: 2011-07-18 11:43:56
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Factor V Leiden genetic trait (heterozygous) resulting in more naturally clotting blood - previously unknown but partially resulted in aphasic stroke April 2011.


human_id: huAF34E6
date: 2011-07-18 13:33:44
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  I have report from geneticist on the Ehlers Danlos Syndrome and Chromosome 2p16.3 microdeletion.  I have an Micro CGH and DNA fingerprinting.


human_id: hu12ECE1
date: 2011-07-18 15:09:13
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  non-24-hr sleep wake cycle, very rare, very severe, puberty-onset of symptoms,  formally diagnosed, also present in living father who is also willing to participate in PGP.    hypothyroidism, common, low depression, common, severeanxiety, common, severeagoraphobia, uncommon, severeanswers are for first. 


human_id: huDDD6BF
date: 2011-07-18 15:13:20
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  I have blood tests documenting increased TSH levels and antibody levels.  I also have ultrasounds of my thyroid.


human_id: hu4339C0
date: 2011-07-18 20:36:17
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Since 1955 I've had a chronic eye inflammation first described as iritis, but subsequently as uveitis, peripheral chorioretinitis (sp), and now pars planitis, which I understand to be relatively rare.  I suspect that it is at least partially genetic, with not much evidence other than that another autoimmune condition, vitiligo, appeared within the last decade or so.


human_id: hu72110E
date: 2011-07-18 23:08:04
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  1.) inability to taste bitterness (?TAS2R38 SNP?)2.) distal end of thumb's metacarpal square-ish, resulting in limited mobility in the metacarpophalangeal joint


human_id: hu858347
date: 2011-07-19 17:46:35
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I'm afflicted/blessed with the debilitating but possibly incredibly lucrative trait of entrepreneurship, which is only estimated to be apparent in 0.35% of the population. I personally have been very curious as to the likely genetic component of this trait.I also started getting grey hairs at the age of 19. I'm not sure how rare this is but I'm sure there is a lot of money in this kind of research. Perhaps it could also help with hearing-loss genetic studies (inner ear hair cells failing?).I also have raynaud's, which is relatively uncommon, being present in 5% of males.All of my wisdom teeth grew in with plenty of space. Again, not sure how rare this is.Finally, I'm a super-taster (25% prevalence).


human_id: huF65A1C
date: 2011-07-19 22:15:29
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  My son had a chest operation to correct the pectus.  I suspect we still have some of the medical records and xrays.


human_id: hu3F83D2
date: 2011-07-20 04:35:24
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  ADHD; Homosexual; HIV+; Left-Handedness; Sina-atrial arrhythmia. Going forward, I'll be answering questions with regards to HIV.


human_id: hu8D1A62
date: 2011-07-20 14:36:22
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  - left-handed- photic sneeze reflex- palmoplantar hyperhydrosis (referred to in subsequent questions)


human_id: hu616CCD
date: 2011-07-20 22:47:17
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  I have had a ROUX-EN-Y (a form of gastric bypass). I was a Kaiser patient for 20 years or so. They did the operation and a number of other related operations. I think that I could get my records from them. My father was an alcoholic and his father was an alcoholic.My mother was diabetic and her mother was also diabetic.I think that this is related to my compulsions.It may not be rare enough for your study, but it has been a serious problem all my life.My uncle has traced back my father's  family history for many generations.I have a cousin that has traced back some of my ancestry on my mothers side in great depth. < http://wc.rootsweb.ancestry.com/cgi-bin/igm.cgi?op=SRCH&db=pricefrielgrow&surname=P>  My mother and aunts and uncles all had Type 2. My cousin's daughter died of Type 1. To quote him: %22My oldest daughter Amanda was diagnosed with Type 1 diabetes just before her 3rd birthday in 1978.  At the time, I was not aware of any relatives on my side of the family nor her mother's who had juvenile diabetes.  Amanda died just before her 24th birthday.  Since then I have been very alert for anyone else in the family who may have had diabetes.  I later found out that Amanda's maternal grandmother had diabetes, probably Type 2, but she lived to 86.Amanda suffered from another auto immune disease, interstitial nephritis.  She lost her kidneys at age 11.  In addition she suffered from seizures which were controlled with medication.  Amanda's younger sister and brother have not shown any sign of diabetes.I learned last year that Teresa Friel Price's older brother Leo Bernard Friel had diabetes, and that his son Emmett William Friel died in 1946 from diabetes at age 27.  I assume this was type 1.Also Mary Kathleen Curran, granddaughter of Teresa Price's older brother Emmett Albert Friel, told me that her son Jimmy Sloan contracted type 2 diabetes at age 42.I am not aware of anyone else in the family who has been diagnosed with diabetes, but it is certainly possible.My theory is some people are genetically predisposed to get Type 1 diabetes and that it takes a virus (coxsackie?) or stress to trigger it.  This gene may be in the Friel line.  I have not found anyone in the Price line with diabetes.I would be interested to know if any of your family has diabetes.%22


human_id: huFDF88E
date: 2011-07-21 09:34:54
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Severely react gastrointestinally and vascularly to a number of medications and environmental chemicals. Chemically induced cardiac disease.


human_id: huFDF88E
date: 2011-07-21 09:34:54
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  UGT 1A1 under function. Artheriosclerosis. Elevated SOD, GSHPx. Gilbert's syndrome. (Should already be in file.)


human_id: hu35389E
date: 2011-07-23 11:43:57
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  Lab results (T4, parathyroid hormone levels, blood calcium levels)Sestamibi imaging for hyperactive parathyroid


human_id: huB220C0
date: 2011-07-25 16:00:28
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Autoimmune disorders - Sjogren's, Lichen Scleroderma, Microscopic Colitis (Lymphocytic), Hashimoto's Thyroiditis, Psoriasis (blistering), very high ANA. Juvenile Diabetes runs in the family (uncle, grandmother and cousin). Also have epilepsy. Answers are for Autoimmune disorders in general.


human_id: huFAE9C8
date: 2011-07-25 20:35:18
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  My dad is affected, and his mutation was mapped to 3766 C>T (Q1256X) at Baylor via a clinical genetics test -- I have a copy of that report. Although I haven't formally been sequenced at APC by Baylor (or any other clinical genetics lab), I did recently confirm my mutation by direct sequencing for myself. Which confirms I have the same mutation, consistent with the autosomal dominant inheritance of the disease. We also have plenty of endoscopic images of the polyposis and associated extracolonic manifestations of the disease (Gardner's Syndrome).


human_id: huD09534
date: 2011-07-26 00:18:34
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Endometriosis has not skipped any women in my family for a few generations at least, and for some its been very problematic, even ruining fertility


human_id: hu8471D8
date: 2011-07-26 17:54:34
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I have major depressive depression and social anxiety disorder.  My mother suffers from and has been formerly diagnosed with bipolar syndrome.I am answering the following questions in regards to major depressive disorder.


human_id: hu8BEAFA
date: 2011-07-26 17:56:49
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I was diagnosed with Malignant Melanoma at the age of 24.  I was told by many physicians that this diagnosis is more common in the 50+ age group and is more than likely a genetic reason to why I was diagnosed with this at such an early age.


human_id: hu94CD59
date: 2011-07-26 18:16:42
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  MTF Transexual. May be due to hormone mix in the womb but could also involve my or my mother's genetics. At this point no one knows.


human_id: hu94CD59
date: 2011-07-26 18:16:42
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  There are no tests for transsexualism that I am aware of but I have transitioned and been treated for over a decade and can provide doctor's names and information release forms.By the way, you need more choices for sex than simply male, female, and no response. You should at least add MTF and FTM transsexual as well as choices for various types of intersex, cross-dressers, androgynous, etc.


human_id: hu2DBF2D
date: 2011-07-26 18:30:44
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Two rare traits: Attention Deficit Disorder (lifelong symptoms) and Geographic tongue (began as a teenager and has gradually increased in frequency)


human_id: hu7A114C
date: 2011-07-26 18:48:28
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I have a condition called dermatographia, which is also known as the Skin Writing Disease. My body responds with hives directly to any area scratched on the skin. I can write or draw on my body by simply scratching my skin. The skin surface of the area scratched will raise and turn pink. The hived-area takes approximately two minutes to form and remain anywhere from 5 - 45 minutes. The following answers will be in relation to my Skin Writing.I also have one eye that is physically placed higher on my face than the other. I have to have corrected vision lenses, and they must have prism in them or I will see double. As people with lazy eyes have to have their vision corrected horizontally, due to one eye being higher than the other, I have to have it corrected vertically. Due to this, I am unable to wear contacts, and am currently not a candidate for any sort of laser vision sugery.


human_id: hu8F918A
date: 2011-07-26 19:48:32
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Heart disease/stroke.  Several paternal relatives (father, grandfather, uncle) and maternal grandfather died of heart disease.  While the genetics have not been elucidated this indicates a genetic disease trait.


human_id: huB9F2F3
date: 2011-07-26 19:51:31
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Melanoma cancer.  Mother had it. Maternal uncle died of Melanoma. I have had one removed and my sister has had one removed.  Father had Basel Cell


human_id: huB9F2F3
date: 2011-07-26 19:51:31
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  I can get doctor's reports on myself and my mother on melanoma.  Same doctor removed both of our cancer sites.


human_id: hu3D355A
date: 2011-07-26 22:27:35
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Cholinesterase inhibitor sensitivity: I seem to have unusual degree of problems which seem related to consumption of nightshade foods (potato, tomato, peppers, eggplant, etc.) and possibly pesticide exposure in ways which seem consistent with enhanced sensitivity to cholinesterase inhibitors found in these compounds.  More info at https://sites.google.com/site/annerwright/cholinesterase-inhibitors  I suspect genetic origin for this.  I suspect my mother may have been similarly affected, but she passed away before I had developed this line of inquiry.  I have found several publications, particularly by the Soreq Research Group in Jerusalem, discussing genetic polymorphims consistent with these effects. Also, certain atypical SNP results identified by running 23andme raw data through Promethease may contribute or synergize with these effects.  More info at https://sites.google.com/site/annerwright/snps


human_id: hu75BE2C
date: 2011-07-26 22:45:18
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  PGP Participant Survey (July 2011).QUESTION: %22Do you have a severe disease or rare non-disease trait you believe is strongly genetic in origin? Please describe.%22William Hamilton STEWART wrote the following on 2011/Jul/26.1) SUPER MUSCULAR STRENGTH - I have been four times stronger than most people even though I never had any athletic training, etc..The strength of every part of the bodies of college students was tested in the 1960s as part of a national survey for military purposes. One student in my Physical Education class at the University of South Carolina always doubled the test scores of all of the other boys. I always doubled his.I was one of the last students in my class to be tested via a scale attached to a belt that was strapped around our waists. According to that scale, except for one boy and me, the most each of the approximately forty members of my Physical Education class at USC could lift was about 400 pounds.I thought I would test the device to see how it felt before I tried very hard. I'll never forget the bulging eyes and expression on the face of USC football coach Lamar as I gently lifted up on that scale. He blurted out: %22Stewart, what did you do to that thing?%22. He always cut my scores in half. I left well enough alone.While my Uncle Joe STEWART and I were sitting at his kitchen table one day, the subject of our family's strength came up. I told him I could lift the back end of my 1958 VW (65% of the total weight of the vehicle). He did not believe me so we walked out into his front yard. His eyes bulged and his mouth flew open when he saw me snatch the rear wheels of my VW completely off the ground  with my bare hands. I stopped lifting my VW after it occurred to me that lifting that much weight might not be good for my spine.My brother told me he had similar experiences. He grew several inches taller than me. My parents never abused my two brothers. My brothers and I never smoked or used alcohol and other drugs. My parents bought candy, colas, junk food snacks and toys for them, but never for me.  One of my Stewart cousins told me he was super strong too.How much of our strength is genetic? My childhood environment was terrible.  My parents physically and mentally abused me from the time I was a baby until I graduated from High School and left their home. They worked me like a slave and starve me on a diet of grease and grits six days a week. It made me so sick every few weeks that I vomited and could not eat. I usually became well after a few days because my mother put me in bed and fed me some fruit salad. I was hospitalized when I was five or six years old because of a bone infection of a bruise, i.e., osteomyelitis. I spent several years in hospitals because there was no penecillin for the civilian population during World War II.A doctor who measured my pulse when I was a teenager said it was 39. Until a few years ago my resting heart rate was still 39.2) FAST RUNNER - I enrolled in a jogging course at USC during the 1980s. For our final grades college students who were half my age and I had to run two miles around a square athletic field. We had to run around that field four and half laps on grass in order to run one mile. We had to slow down 18 times every mile because we were not allowed to cut corners. I ran the first mile in four and a half minutes so the two timers shouted for me to slow down. I paid no attention to them and ran the second mile in four and a half minutes too. I felt that I could run at that speed all day long. I never push myself to the limit because I do not want to risk injuring myself. I and another guy received the only %22A%22 grade in that jogging course.3) FAST SWIMMER - I won all the swimming and other athletic competitions at the camps (e.g., YMCA) that I attended during summer vacations as a child. I was never trained to do any sport.4) INTELLIGENCE - The University of SC gave me some intelligence tests about 1960. I do not attribute my IQ score of about 140 to my having a better environment than most people. My mother spent her childhood working in a cotton mill. My alcoholic father could barely read and write.5) POSSIBLE SENSITIVITY TO ELECTROMAGNETIC FORCES* My nerves tingled so badly that I could hardly stand being swung back and forth when I was a child, possibly because my nerves are more sensitive to the earth's magnetic field than other people's.* I felt the build up of an electromagnetic charge moments before I was struck by lightning in the 1970s (not strongly enough to kill me fortunately).* The first time I attempted to use a cellular telephone it had a destructive effect on my nearby nerves and other tissues.6) STRONG EMOTIONS - My dog had ten puppies. I love them and want them to be healthy and happy. I have wept because of the suffering and death of three of them. I also love people and science. I want our civilization to continue to survive and make progress.7) MY ANCESTRY - All of my known maternal and paternal ancestors have lived in SC since the eighteenth century. Many of my cousins have had DNA tests. That all of them belong to Y-haplogroup %22R1b1a2%22 and to haplogroup %22I%22 may mean that I am of almost 100% European, i.e., Celtic and Viking (Germanic) ancestry.I belong to Y-haplogroup %22R1b1a2a1a1b4%22 (R-L 21, L459) and to the same Stewart family as the kings of Scotland. See FtDNA ID 143035 at http://www.familytreedna.com/public/Stuart/default.aspx?section=yresults , 


human_id: hu56B1F0
date: 2011-07-27 06:38:31
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  For remaining questions I will answer the questions using the genetic diagnosis as the main disease/trait. PRIMARY DIAGNOSIS/GENETIC:46,XX,der(8)t(8;12)(p23.1;p13.31). Using array nomenclature, Jacqui's translocation is described as: arr cgh 8p23.3p23.1(181,530-6,929,747)x1,12p13.3p13.31(100,682-8,123,572)x3. OTHER TRAITS:(1.)Wolff-parkinson-White syndrome with two bypass tracts. (2.)Seizures with status epilepticus. (3.)EXTREME OBESITY SINCE INFANCY (the single most difficult part to deal with). Severely calorie restricted diet since infancy. (4.)Tumor/cyst on pineal gland adjacent to quadrigeminal plate. Not growimng or changing/followed with MRIs (5) Hypotonia. (6.)Hearing impaired (bilateral aids). (7.)Developmentally delayed (approx 55 IQ by testing- performs 10 points higher than tested IQ when not tikmed.) (8.) Hemiparesis. (9.)HARLEQUIN COLOR CHANGE from birth to age 6 months. (10.)Orthopedic involvment of feet (one varus and one valgus defor,ity. Club foot. One foot size 5 1/2 ladies shoe one foor size 9 1/2 shoe. (10.) High arched palate. (11.)narrow short forehead. (12.)Bushy eyebrows. (13.) Teeth=orthodontia and rooots resorbed.(14)TALKITIVE. (15) OCD. perseverates. (16) Happy Angelic temperament. (17.) excellent reader. (18.) Singing- a natural gift of a beautiful soprano singing voice is a strong quality. Only reporting most significant traits. leaving out all other traits for the present. etc.etc...This is being reported by mother, Mary Anne Slevin, who is also enrolled in study.(enrolled at jacquianne7@yahoo.com). I have Jacqueline's power of attorney for health care and have communicated in email with Dr.Joseph Thakuria at your department and he should be familiar with this patient. 


human_id: hu56B1F0
date: 2011-07-27 06:38:31
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  FISH. CGH ARRAY. Methylation study for PWS (negative study).   I cannot upload to your website. I do not have a scanner at the moment and my computer will not permit me to upload. I have emailed attached copies to Dr. Joseph Thakuria at your PGP project so he should already have them for your perusal.I do not want any personally identifyable information specifically as it relates to patient's personal name, age, doctors names, test laboratories, location of patient's residence, etc. made public. Only confirmed genetic test results (karyotype, phenotype, etc.) are authorized for public dissemination at this time. 


human_id: huD2DC60
date: 2011-07-27 07:11:57
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Mother to adult daughter with extremely rare genetic rearrangement (see below). Also, I have just been diagnosed as pre-diabetic after several high fastimng blood sugars and two different hba1c tests results of 6.2.  Am due to re-test again in November 2011 and will request other diabetes tests at that time. We have a very strong family history of Diabetes. Both types 1 and 2.  My 1st cousin is a doctor at your hospital and knows the family diabetes history. GENETIC:MOTHER OF ENROLLED PARTICIPANT (mnvbn@msn.com)WHO HAS:der(8)t(8;12)(p23.1;p13.31). Using array nomenclature, her translocation is described as: arr cgh 8p23.3p23.1(181,530-6,929,747)x1,12p13.3p13.31(100,682-8,123,572)x3. FOR THE REMAINDER OF THIS SURVEY, since I can only select one disease, I WILL ANSWER QUESTIONS BASED ON THE REPLY OF %22DIABETES%22.


human_id: hu42B208
date: 2011-07-27 08:57:10
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  One APOE4 allele, increasing my risk of developing Alzheimer's disease. Two of my grandparents died of Alzheimer's disease.


human_id: hu5A0C00
date: 2011-07-27 09:57:47
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  My grandmother, mother, sister, uncle, and myself all have malformed and missing thumbnails, patellas, various double joints and back problems. I have personally had knee cat scans, a back MRI, and can take pictures of my thumbs. (I have also developed ankylosing spondylitis.


human_id: hu5DB8A1
date: 2011-07-27 14:17:39
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I had severe preeclampsia during my first pregnancy (including a pre-term low birth weight child), and mild preeclampsia during my second pregnancy. I also have a focal dystonia, which may or may not have a genetic predisposition.


human_id: hu5DB8A1
date: 2011-07-27 14:17:39
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  I have copies of all the medical records throughout my pregnancy including lab tests and blood pressure progression, and fetal information prior to and after the birth. 


human_id: huFEDA9B
date: 2011-07-27 19:29:03
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Exercise induced hives - I break out in hives from %22sprint%22 or burst style activityI also have an indented chest, although I know that is common


human_id: hu23FAE3
date: 2011-07-28 20:10:28
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  Laboratory request was made by Dr Bill Nam Wong, MD, lung specialist, Valley Care Hospital, Pleasanton, CA, to an outside laboratory to test for mutations of clotting factors during an episode of pulmonary emboli. A request can be made to the laboratory if PGP requires a report directly uploaded from the testing laboratory.


human_id: hu8DD372
date: 2011-07-29 23:27:44
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  Complete medical history, including:*Standardized neuropsychiatric evaluations*Comprehensive blood panels*MRI imagery


human_id: huD6D3D9
date: 2011-07-30 00:19:31
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I have bi-polar disorder, which is being successfully managed with medication for about the last 20 years. Alcoholism runs in my family, with alcoholics in both maternal and paternal lines. Some of my siblings self medicate; my sister is married to an alcoholic.


human_id: hu2FEC01
date: 2011-09-03 11:55:12
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Absolute pitch,Asperger's syndrome,Colorblindness (mild red-green),Homosexuality [described hereafter]


human_id: hu01A67D
date: 2011-09-04 17:25:31
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I'm an INTJ personality, which according to Kiersey is less than 1% of the population.  Further, I match better with Kiersey's definition of it (%22Mastermind%22) than some others that use %22scientist%22.  Think Spock.


human_id: huF5AD12
date: 2011-09-16 19:33:32
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Very Superior IQ (WAIS-IV FSIQ 145 99.9 Percentile, VCI 150 >99.9 Percentile)Bipolar DisorderADHDMigraineHomosexual


human_id: huF5AD12
date: 2011-09-16 19:33:32
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  WAIS IV testing results for IQ.As for the others, ADHD, migraine, and bipolar have all been formally diagnosed, and I am happy to share my records. I have the autistic tendency towards full disclosure to an extent that sometimes violates social norms or other's comfort level; I really don't have any problem with anyone knowing the details of me being a crazy gay smart guy to the limits of their voyeurism. I wasn't going to bother putting everything into Google Health since it's being discontinued, but since you're going to keep the data alive I might as well. That's going to take a few weeks, as I have hundred of pages of medical records already and probably a few hundred more on the way. Happy, happy, joy, joy.


human_id: hu5917F3
date: 2011-09-17 13:10:14
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I have multiple sclerosis, which previous research has indicated to have a significant genetic component.


human_id: hu5917F3
date: 2011-09-17 13:10:14
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  There is no genetic test for multiple sclerosis.  Diagnosis is based on clinical symptoms and confirmed by MRI and lumbar puncture showing oligoclonal bands in the spinal fluid.  I have had several MRIs showing characteristic signs and had a spinal fluid electrophoresis showing oligoclonal bands.  These tests were done by a neurologist at Kaiser Permanente in Los Angeles and I believe I could request copies of them if that would be of interest, although I have not yet done so.


human_id: hu9002DE
date: 2011-09-20 19:32:20
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Ability to perceive relationships among events, phenomena, people etc. which others see as disconnected.Abilty to  think objectively & quantitatively about all phenomena, reguardless of emotogenic connotations. 


human_id: hu23FAE3
date: 2011-09-27 19:54:54
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  The laboratory of the hospital in Pleasanton, CA, sent out my blood sample for genetic testing. I can request that the results be sent to PGP.


human_id: hu0352A7
date: 2011-09-30 17:20:14
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I have gender identity disorder.  I am biolgoically female, but inject testosterone and have gotten a double mastectomy.


human_id: hu8BEAFA
date: 2011-10-10 11:47:54
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I was diagnosed with Malignant Melanoma at the age of 24, which to my understanding is the average diagnosed age is 59, and there is only 8% of people diagnosed in the U.S. that are between the ages of 20-34.  So I feel that there is some sort of genetic disposition that I have that could have been a player in my melanoma diagnosis.


human_id: hu337BB4
date: 2011-10-12 10:58:45
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Psoriasis. Not seen on my Father's side. Mother was adopted, so her side of the tree is unknown to me.


human_id: hu6D1115
date: 2011-10-16 00:51:42
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I have high homocysteine although I control it with Folgard 2.2 rxI don't know if this condition is considered *rare* but mine is definitely genetic in origin as my father also had the condition. I suspect that my paternal grandmother and uncle also had it.


human_id: hu6D1115
date: 2011-10-16 00:51:42
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  I saw a pediatric geneticist at UCLA (Ronald Reagan Medical Center) who had me tested for a couple of gene variants and other factors. I have the test results as well as his narrative. However, I do believe there are also other gene variants relative to this condition that I haven't been tested for, such as MTHFD1L. I'm very curious about my risk for Alzheimer's as it relates to homocystememia. I am homozygous for APOE 3 and no one in my family has developed dementia BUT on my father's side where the homocystemia comes from, they tended to die of cardiovascular disease/stroke before late onset dementia could present. 


human_id: hu52B7E5
date: 2011-10-21 18:36:58
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I was diagnosed with invasive lobular breast cancer at age 39.  My mother was diagnosed with breast cancer at age 43, my aunt at age 48, and my maternal great-grandmother at 43.  The four of us represent 50% of the women in our four generations.  I was tested for the BRCA 1 and 2 mutations and the CDH1 mutation and did not have any of them.


human_id: huAA245C
date: 2011-10-21 20:48:00
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  I have many films for my dextrocardia that I would be happy to send via mail but none that I am able to upload. The films are from many years ago.My craniopharyngioma was documented via multiple MRIs and frozen section histology studies during the removal surgery.


human_id: hu47B0B2
date: 2011-10-23 06:22:18
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Waardenburg Syndrome - my symptoms are deafness in left ear, pre-mature grey hair and wide set eyes. From Pub Med Health:http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002401/Waardenburg syndromeKlein-Waardenburg syndrome; Waardenburg-Shah syndromeLast reviewed: August 4, 2011.Waardenburg syndrome is a group of conditions passed down through families that involve deafness and pale skin, hair, and eye color.Causes, incidence, and risk factorsWaardenburg syndrome is inherited as an autosomal dominant trait, meaning only one parent has to pass on the faulty gene for a child to be affected.There are four main types of Waardenburg syndrome. The most common are Type I and Type II.Type III (Klein-Waardenburg syndrome) and type IV (Waardenburg-Shah syndrome) are more rare.The multiple types of this syndrome result from defects in different genes. Most people with this disease have a parent with the disease, but the symptoms in the parent can be quite different from those in the child.SymptomsSymptoms may include:Cleft lip (rare)ConstipationDeafness(more common in type II disease)Extremely pale blue eyes or eye colors that don't match (heterochromia)Pale color skin, hair, and eyes (partial albinism)Difficulty completely straightening jointsPossible slight decrease in intellectual functionWide-set eyes (in Type I)White patch of hair or early graying of the hairLess common types of this disease may cause problems with the arms or intestines.Signs and testsTests may include:AudiometryBowel transit timeColon biopsyGenetic testingTreatmentThere is no specific treatment. Symptoms will be treated as appropriate. Special diets and medicines to keep the bowel moving are prescribed to those patients who have constipation.Expectations (prognosis)Once hearing problems are corrected, most people with this syndrome should be able to lead a normal life. Those with rarer forms of the syndrome may have other complications.ComplicationsConstipation severe enough to require part of large bowel to be removedHearing lossSelf-esteem problems, or other problems related to appearanceSlight decreased intellectual functioning (possible, unusual)Slight increased risk for muscle tumor called rhabdomyosarcoma


human_id: hu098181
date: 2011-10-25 15:41:56
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Lactose intolerance (discussed in detail below [my uncle is also lactose intolerance but this project has not been discussed with him])I am 100% Jewish, there is a chance I am a carrier of Tay-Sachs (my mom, dad, brother and potentially all of my grandparents are interested in participating in the PGP, at least one of which has already enrolled)


human_id: hu098181
date: 2011-10-26 16:21:54
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  I have test results from two bronchial infections that resulted in an outbreak of asthma that has lasted me for nearly 20 years now, as well as the medications provided, etc...


human_id: huDA2757
date: 2011-10-26 23:34:01
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Multiple:My IQ consistently tests over 160, and typically in the 170-180's, for spatial skills and mathematic comprehension.  Verbal ability is within the high end of %22normal%22.  Numerous family members have been above average at math, science, and spatial reasoning.I also have %22ventricular branch delay%22 as described by a cardiologist.  I have relevant medical data and testing information for this, but from my understanding of these tests, the most obvious result is that in my ECG, part of my R wave fires during my S wave creating a %22jaggie%22 in the S wave.  From what I understand, this is a rare, but trivial, electrical defect in the heart, though a cardiologist would have to comment on this further.  There is a strong history of heart related illness in my family, so it is very possible this is genetically linked.I have recently been diagnosed with migraines, which apparently affects <1% of adult males, and there is a strong history of headaches on my mother's side of the family.I was tested at age 18 to have 115% of normal tidal volume for my external body measurements, and have been able to achieve a *standing* heart rate of 40 beats per minute due to exercise alone.  My father's side of the family have typically been endurance athletes in their early years, and most of us have ectomorph body types.Finally, I appear to have inherited chronically low testosterone levels from my father, who also suffers from this condition.


human_id: huDA2757
date: 2011-10-26 23:34:01
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  Mensa test results for IQ.For heart information, all medical information should still be on file at the cardiologist's office to include NMRI, holter moniter data, echocardiogram video, stress test and EKG.  However, I do have the EKG printouts and the doctors written notes.Heart rate would also come from cardiologist's information, and tidal volume data should be the same if tested now.Testosterone levels can be verified through recent blood tests.


human_id: huD554DB
date: 2011-11-01 15:38:29
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  seizure disorder that might be mitochondrial based, son with significant clinical features of mitochondrial disease, I have had numerous rare reactions to a variety of types of medications including life threatening reactions


human_id: hu0A8345
date: 2011-11-07 01:12:50
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  Paper Summary of Test ResultsMR Brachial PlexusMR Brain - With and Without ContrastMR Cervical Spine - Without Contrast MR Lumbar Spine - Without Contrast   


human_id: hu7F99E2
date: 2011-11-09 08:55:33
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I have had severe asthma since I was 8 years old. My father outgrew his when he was an adult but myself at 34 years old still has it. I also was diagnosed with Ankylosing Spondylitis (spinal arthritis on my spine- joints and my spine is fusing) 3 years ago and also have degenerative disc disease (my discs are herniating and, dehydrated) in my spine.My biological mother was just diagnosed with Rheumatoid Arthritis and my bother has bone spurs and disc issues as well. I believe these are all hereditary. I have extremely high ANA titers as well when blood is taken and I am HLA-B27 positive.


human_id: huFAF983
date: 2011-11-15 10:39:38
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I have Fuch's dystrophy- causes deterioration in the lens leading to blindness. My mother suffers from this also.


human_id: huFAF983
date: 2011-11-15 10:39:38
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  I could upload the statement of my Optthamologist at a minimum. I could determine if sone oof the images could be photographed and then sent to me.


human_id: hu6426D7
date: 2011-11-16 16:51:46
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  My family is riddles with mental health issues--severe anxiety, PTSD, psychopathic behavior and addiction, and autistic traits.  Thyroid issues also common.  One child presented multiple birth defects.


human_id: huD554DB
date: 2011-11-23 11:58:13
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  son suspected in having a mitochondrial disorder with numerous chronic health issues typical for mito, I developed adult onset seizures with no known cause, with numerous rare reactions to medications such as phenobarbital and tegretol, half sister having EEG today for adult onset seizures similar age to my onset


human_id: huD554DB
date: 2011-11-23 11:58:13
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  EEG results, some DNA analysis completed related to mito with a trait identified in both son and self that may or may not be indicative of an issue


human_id: huCD380F
date: 2011-11-23 12:17:40
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Balanced translocation on chromosome 18, which resulted in child born with monosomy 18p (microdeletion).


human_id: hu3B94BD
date: 2011-11-23 13:01:55
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Rare trait -- a profound impairment in episodic memory despite being in top 1% on IQ, having above average working memory, and superior semantic memory for book learning and technical data. Often after a few years I will have a complete absence of recall of having gone on a vacation, no recollection of having visited a country or met up with friends, and can't recall even after seeing photographs with myself in them or being told of the trip. Also significant visual prosopagnosia, e.g. difficulty recognizing my father in crowded train station. No history of trauma or brain injury.


human_id: hu259AC7
date: 2011-11-23 14:23:22
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Kallmann Syndrome/Hypogonadotropic Hypogonadism (used for the following questions)I also have Human Growth Hormone Deficiency and Asperger's Syndrome.I was born with all of these conditions.


human_id: hu259AC7
date: 2011-11-23 14:23:22
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  I have had numerous blood tests, monitoring testosterone levels and such.  The results of the majority of these tests would be in the possession of Dr. Edward Reiter, who was my Pediatric Endocrinologist.  He is/was based out of Springfield, Massachusetts.


human_id: hu6D1115
date: 2011-11-24 03:10:23
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  It is not that rare, but potentially severe. I'm hetrozygous for MTHFR C677T. When I was diagnosed in 1998, my homocysteine level was 48. That is pretty high for a CT. There have to be multiple factors at work to drive my homocysteine level so high. It isn't my diet as I'm a healthy eater. What could they be? Recently I came across a study that sheds some light on my question. I found out that in combination with MTFHR 677>CT, I am a homozygous CC for SLC19A1 rs819130 which supposedly causes a 10% increase of homocysteine levels in carriers on top of whatever effect the MTHFR>CT has. rs819130 is a folate transporter, but in CCs, not efficient. As far as I can tell, no one quite has a handle on high homocysteine yet. I follow the research avidly hoping to find out as much as I can about my condition, so I can figure out how to moderate my epigenome to counteract the effects. I've seen what it did to my father, my uncle and my grandmother. I'm aware of what it did to my great-grandmother. None of them lived long enough to be affected by late onset Alzheimer's but high homocysteine is a risk factor. Alzheimer's is definitely a fate I wish to avoid. So far I think my best bet is strenuous daily exercise and reducing my calorie and sugar intake. I also have risk factors for diabetes, so I've been trying to eat like a diabetic as best I can.All the people in my family who share the high homocysteine trait are now deceased, so they won't be enrolling in PGP. My brother has a rare neurological disease. MSA (symptoms similar to ALS). He is enrolled in a trial through UCLA, but he's getting worse, and they think he's probably getting the placebo. His wife is planning to take hin to China for a stem cell transplant. However, I doubt that his issue is related to mine. I wouldn't dare ask him to enroll in PGP at this point.


human_id: hu6D1115
date: 2011-11-24 03:10:23
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  I have genetic tests from Berkeley Heart Lab and Health Diagnostic Laboratory that confirm MTFHR 677>CT. I have a subscription to 23and me that allows me to browse raw date, so I'm able to correlate my condition to the latest genetic research on high homocysteine. I was first tipped off to my condition after my father had a heart attack in Canada. His cardiologist told him he had the highest level of homocysteine that had ever been tested in the lab that covers all of Western Canada and that his condition was genetic and all his children should be test for it. None of my sisters have it. I'm not sure about my brother, but I don't think he does either. Classic one out of four.


human_id: hu9002DE
date: 2011-11-28 14:01:16
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Ability to perceive relationships among, & implications of, data that others rarely seem to perceive. Cognitive objectivity.  


human_id: huD554DB
date: 2011-11-28 19:46:46
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Son and I have novel homoplasmic mutation formally designated as 14751C>T leading to an amino acid change from threonine to isoleucineI have also had rare life threatening reactions to tegretol and phenobarbital, adult onset seizures unknown origin


human_id: hu3EFFEE
date: 2011-11-28 21:49:45
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  I think that I have test result desriptions (no images) of biopsies, iodine uptake tests, etc.   After they removed the thyroid they found a small malignancy on it and I might have those results as well.  I don't have all of my tests since they go back over 30 years, but I'm sure I have blood tests and some scan results.


human_id: hu432EB5
date: 2011-12-07 02:16:39
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Von Willebrands disease type 2N (considered rarest).  Idiopathic adult onset growth hormone deficiency.  Idiopathic syringomyelia.


human_id: hu432EB5
date: 2011-12-07 02:16:39
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  I have the results of the gene mutation test for VWD type 2N, as well as numerous von-willebrand factor and factor VIII activity lab results.


human_id: hu9002DE
date: 2011-12-24 20:51:51
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Probable Genetic Vascular Defect: My biological mother died at age 55 from a burst berry aneurysm of the Circle of Willis. As a child she hasuffered so much from what is commonly called %22prickly heat%22 that she had to drop out of hi school for a year.  I sometimes had prickly heat on my chest as a child, but never so severely that it changed my life activities.  At birth I had 2 strawberry birthmarks - one just below my left clavicle, and a larger one, about 2%22 x1%22 in size, located 1%22 to the left of my lumbar vertebrae. They were burned off with Radium when I was a baby. At age 30 a cavernous hemangioma was found in the upper frontal bone of my skull. It was removed & replaced by a plastic plate. A CAT scan at age 60 reported no signs of brain aneurysms. 


human_id: hu48C4EB
date: 2011-12-28 15:55:52
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I have Rheumatoid arthritis since the age of 13.  I know that my cousin has had it since birth, and a great uncle had it as well. (all on my mothers side)I also have wide hips (for a man) that I believe is a combination of my Dad's broadly built frame and my Mother's more average frame.


human_id: hu9F7183
date: 2012-01-18 10:32:18
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I have fairly mild eosinophilic fasciitis, and mild asthma/allergies. My sister has MS, my brother had some severe ulcerative colitis leading to large bowel removal, and my mother died (at 84) with some idiopathic pulmonary infiltrative disease. I would suspect some inherited tendency to autoimmune/inflammatory processes that may present in different organ systems and which may not be recognized in a single disease entity.


human_id: hu9F7183
date: 2012-01-18 10:32:18
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  I do not have all data in hand immediately. But I have access to data from multiple CBC/diff studies (documenting eosinophil counts most relevantly), serum albumin, assays for ANA, etc., widely sued for autoimmune disease assessments.


human_id: huD67BC6
date: 2012-01-20 04:09:23
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Three: unilateral deafness (father and grandfather also had, and grandfather's sister was completely deaf), Thalyssemia minor, and gay


human_id: hu6426D7
date: 2012-01-21 14:18:17
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Family has terrible mental health, hoarding, autism, OCD, and addiction issues.  I'm afflicted by several of these.


human_id: huB921C5
date: 2012-01-25 16:23:43
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Rare tumor, pleomorphic adenoma, right side, head/neck tumor; now, removed. Surgery undertaken in custom program designed in Germany, as US based solutions would have led to partial and permanent facial paralysis.


human_id: huB921C5
date: 2012-01-25 16:23:43
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  This would need to be organised, as the record exists across US, German, and Swiss health domains. Will review and update.


human_id: hu9A0F06
date: 2012-01-29 22:03:05
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Anomalous Aortic Origin of the Right Coronary Artery With an Interarterial Course and Klinefelter Syndrome.


human_id: hu1187FF
date: 2012-01-30 12:41:57
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Homozygous for unfavorable variation in MCR4 gene and FTO gene; severe childhood obesity and insulin resistanceSevere high frequency sensorineural hearing loss, onset in 5th decade of life


human_id: huB9F2F3
date: 2012-02-01 08:02:17
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Melanoma - Mother has it, Sister, Maternal Uncle  all had Melanoma confirmed and removed.  Maternal Uncle died from Melanoma


human_id: huB9F2F3
date: 2012-02-01 08:02:17
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  I have doctor's reports for the removal of the melanoma.  I believe that there are lab tests in those records.


human_id: huD2ECE0
date: 2012-02-03 21:29:28
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I have absolute pitch (as highlighted in that survey), but the rare trait I wish to be tracked here is that I have been diagnosed with familial hypercholesterolemia. I am a lifelong vegetarian, and vegan with a predominantly whole plant foods diet for the past 8 years--yet have had cholesterol levels of 255 to 294 over that same period. This trait did not become evident until I reached my forties (diagnosed at 41).


human_id: huD2ECE0
date: 2012-02-03 21:29:28
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  Highest lab test for total cholesterol was 294 mg/dL while vegetarian, in excellent athletic shape, but not taking statins. I have opted to trust dietary and fitness approaches that lower inflammation--rather than managing my high cholesterol values with statin drugs. 


human_id: hu704A85
date: 2012-02-05 00:23:30
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Sometype of muscular dystrophy and heart problem, possibly related,  I have had a muscle biopsy but they could not define my muscle disease.  


human_id: hu704A85
date: 2012-02-05 00:23:30
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  I have muscle biopsy results and results of test on my heart.  The MDA clinic did some genetic testing but It was negative for duchane and others they tested for.  They do not know what is inflaming my muscles and causing them to not regenerate.  I believe my mother died from what ever this is, soI am very interested in your study.  


human_id: hu1B30FD
date: 2012-02-05 13:29:42
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  FAA has documentation that says I fail the standard color vision book, but pass the control tower red, green, white test. My first born sibling, a male now 82, is not color defective; my late younger brother was color defective; my sister, last born, is not color defective.


human_id: hu9F027E
date: 2012-02-14 23:12:05
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Atrial septal defect (ASD).  Repaired at age 6.  My son has an unusual murmur and my daughter was born with tetralogy of Fallot (repaired 6 mos).  We provided some saliva for a study at Mt. Sinai Hospital in NY in 2006, but not certain if that lead to anything.Also, anxiety/depression 


human_id: hu9F027E
date: 2012-02-14 23:12:05
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  Provided I could retrieve it from my physician I could provide ECG and cardiac ECHO data (and whatever else I can get) for myself, my daughter and my son. 


human_id: huD95DAB
date: 2012-02-28 22:59:24
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I have medium range RA. Seeing Rheum in Dallas and taking all the appropriate drugs.  I have high blood pressuse with meds and high colesterol and triglycerides with meds.  I'm depressed from all the pain - on meds and can't sleep - on meds - I have chest pains and take nitro pills.  But I bets that's as much as you want to hear at this stage.


human_id: huD95DAB
date: 2012-02-28 22:59:24
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  Mostly bloodtest results and xrays from my rheumatologist, Dr. John Willis, next to Baylor hospital.


human_id: hu5FA322
date: 2012-03-04 15:06:10
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  atypical porphyria (affects all systems - used for the rest of questions)mitochondria deletions/ROS/frail inner membranesaortic aneurysmsdouble null - GSTpoor metabolizer - CYP2C19NAT2 - catalytically inefficientcancer - prostrate/uterine


human_id: hu254EA5
date: 2012-03-08 19:29:11
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Multiple cysts on kidneys (8-10 each), but probably not Polycystic Kidney Disease (initial diagnosis).  Cysts likely benign.


human_id: hu02BC41
date: 2012-03-18 13:54:21
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Irritable Bowel Syndrome, resulting in numerous traits. These include sporadic bouts of extreme pain in abdomen, rapid weight loss, and severe gastroesophagial acid reflux. The symptoms often are severe enough to interfere with daily life, and seem like an amplification of more mild digestive symptoms that are present in both my maternal and paternal families. 


human_id: hu00D419
date: 2012-03-18 16:18:13
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Autoimmune connective tissue disease (SLE and or other connective tissue disease) Age of onset is unknown. Serious symptoms began appearing in 1985. Autoimmunity was not discovered until 2008. The disease is uncommon enough that no one seems capable of properly identifying it.


human_id: huE5A9A3
date: 2012-03-18 16:22:55
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  1) Protein S deficiency (clotting disorder), described below.2) Hip deformity.3) Hypercholesteremia.


human_id: huE5A9A3
date: 2012-03-18 16:22:55
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  PROTEIN S %  37Reference range: 50 to 140Unit: %(NOTE)Test performed at Warde Medical Laboratory,Ann Arbor, MI 48108


human_id: huC36EA0
date: 2012-03-20 13:23:57
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  early onset of menopause (both mother and maternal grandmother had early menopause and my fertility issues indicate that I am on the same path). I became aware of this at the age of 39 so that is how I answered below.btw - I have been tested for Fragile X and I am not a carrier.


human_id: hu1C50C6
date: 2012-03-21 17:30:20
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  Medical records/images relating to eye exams and surgeries, dental records/xrays (flat facial profile/lower jaw teeth crowding/high soft palate are all associated with Stickler), xrays/medical records relating to arthritis & connective tissue in joints.


human_id: hu254EA5
date: 2012-03-22 22:09:56
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I have a large number of cysts on both kidneys. Diagnosed initially as Polycystic Kidney Disease. May be benign.


human_id: huFDF88E
date: 2012-03-24 22:31:58
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I have severe reactions to several prescription drugs and diesel exhaust. Testing done by Genova Diagnostics has identified polymorphism at P450 CYP 1B1; CYP 2C19; COMT V158M and NAT2 R197Q. Muscular pain, arrhythmia, vascular pain, gastric distress, respiratory congestion, clotting and illness associated with disorder. Diesel Exhaust sensitivity first identified age 43.


human_id: hu79F922
date: 2012-03-25 14:40:34
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Both parents possessed one mutated (nonfunctional) copy of the SMN1 gene. It's possible that I inherited one of these, but I have not had my genetic material tested yet, so I do not know.


human_id: huBC410F
date: 2012-04-04 16:25:35
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Von Willebrands Disease. (will answer based on that)Also have: Severe scoliosis (greater than 50 degrees). Born with a VSD (hole in heart). Syringomyelia / syrinx.  Asthma. Allergies. Possible Hashimotos (still waiting for test). Strong family history for depression, addiction, and various cancers including--osteosarcoma, leukemia, breast cancer, lung cancer (nonsmoker), and a pancoast tumor.


human_id: huBC410F
date: 2012-04-04 16:25:35
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  I have PTT results and other bloodwork confirming platelet dysfunction from 2000 through the current year, including surgical records for a spinal fusion where it was tested in response to medication.I also have copies of medical records for other disorders (MRI scans for syrinx and scoliosis, bloodwork, a tilt test for fainting due to heart problem).


human_id: hu9B93D0
date: 2012-04-04 17:46:19
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  1: I have been very thin my entire life, regardless of the quantity or type of food of I eat.  For most of my teens and twenties I weighed between 120-130 pounds (I am just under six feet tall).  I can eat pounds of chocolate and gain no weight or eat very little and lose no weight.  I only lose weight when ill.  In my 30s (age 31 now) my weight has generally been 125-135 pounds. I have answered the remaining questions in this section specifically regarding this item.2: I also have rotoscoliosis at T4-T5-T6.3: I also naturally have very low vitamin D levels. 


human_id: hu3A1737
date: 2012-04-04 21:20:26
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Chosen disease/trait:Multiple neoplasms including lobular breast cancer, ovarian cysts, oral polyps, multiple lipomas..  All neoplasms occured solely on left side of body.Restless Leg SyndromeMigraine headachesFamilial CholycystitisBi-polar IIDepressionAdie's/Tonic pupilAutoimmune process diagnosed as Fibomyalgia


human_id: huDD3FEE
date: 2012-04-05 09:51:10
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Kleine-Levin Syndrome (decreasing in severity with monitoring and medication per 'Disease/trait: Severity')


human_id: huB441EF
date: 2012-04-05 18:10:01
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Supraventricular Tachycardia - Cardiologist explained that SVT was caused by an extra electrical pathway in the heart and that it is a genetic trait.


human_id: hu3C0611
date: 2012-04-06 05:20:14
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  I have test results from emg.  Results from Neurologist of  blood testing  showing a   deletion of chromosome 17p11.2 ( PMP22g).


human_id: hu7C7FD3
date: 2012-04-09 18:48:03
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I had an idiopathic ventricular fibrillation sudden cardiac arrest, with normal coronary arteries, no cardiomyopathy, normal cardiac MRI scan (ie no arrhythmogenic right ventricular dysplasia), and normal QTc interval, indicative of a probable ion channel mutation.


human_id: hu661AD0
date: 2012-04-16 13:23:32
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I have shovel shaped incisor teeth. This is presumably a trait that indicates I have Native American ancestry in the EDAR gene [1]. My mother claims that I have a Native American ancestor (Taino) 3-4 generations ago. I was born a raised in Puerto Rico, and can trace my ancestry back on the island for 8 generations. I think it would be very interesting to find out if I have this variant, and other variants in my genome that are specific to Taino acestry [2]1: Kimura R, Yamaguchi T, Takeda M, Kondo O, Toma T, Haneji K, Hanihara T,Matsukusa H, Kawamura S, Maki K, Osawa M, Ishida H, Oota H. A common variation inEDAR is a genetic determinant of shovel-shaped incisors. Am J Hum Genet. 2009Oct;85(4):528-35. PubMed PMID: 19804850; PubMed Central PMCID: PMC2756549.2. http://www.nature.com/news/2011/111014/full/news.2011.592.html


human_id: huCBDC6D
date: 2012-04-22 13:09:08
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I am an alcoholic (recovered) from a strongly alcoholic family. All my first degree relatives are or were alcoholics, with the possible exception of my mother.I am of Irish descent on both sides, and German descent on my father's mother's side.When I drink, I experience severe hangovers, which can last over 24 hours.When I was an active drinker, I would drink very fast and be ahead of my companions, in terms of number of drinks, very early in the evening. Even when drinking alone, I would exhibit the same pattern.My hypothesis is this: I am probably deficient in one of the enzymes that convert acetaldehyde (ACL) to CO2 and H2O. As the ACL builds up in my system, rather than experiencing the flushing reaction some people have, I just feel restless and uncomfortable, symptoms which another drink will mask. The result is a very heavy dose of alcohol in a short time, and a build up of ACL to virtual toxic levels, which my body then takes around 24 hours to clear, resulting in a severe, interminable hangover.Although I cannot provide references,, I have read of other people who exhibit this pattern of drinking and this severity of hangover, and have read that it is related to an ACL enzyme deficiency common among Irish people.


human_id: hu9C27F6
date: 2012-04-23 01:52:55
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  At age 52, I was diagnosed with a defective aortic valve leading to severe regurgitation. There was no indication prior to this and no known illness that proceeded the diagnosis.


human_id: hu52F345
date: 2012-04-25 11:09:37
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I am extremely flexible and can do moderate contortion and have been very bendy since I was a child. I was told by a physician that I have unusually flexible joints.


human_id: huB9F2F3
date: 2012-05-02 06:31:51
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Melanoma Cancer - Maternal uncle died of it, My mother has had melanoma removed as have I and my sister. My father has basel cell carcenoma


human_id: huB9F2F3
date: 2012-05-02 06:31:51
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  I have the lab reports from the dermatologist confirming the cancet. I would have to find it as it was in 1992


human_id: hu3A1737
date: 2012-05-03 15:44:37
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  Lobular Breast Cancer DiagnosisDiagnostic imaging films, biopsy and surgical records, surgical sequelae, including repeated hospitalizations for post-surgical MERSA infection,post-surgical treatment plan, current follow-up plan including quarterly lab results


human_id: huE9B080
date: 2012-05-10 14:33:28
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  1. Obstructive sleep apnea ( API of 55). Questions based on this disease. I have several relatives of varying weights, genders, and ages with this on both sides of my family spanning multiple generations, They are verified by sleep studies.2. Secondary Hypogonadism from corticosteroid reaction. 


human_id: huE9B080
date: 2012-05-10 14:33:28
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  1. For Obstructive Sleep Apnea: 5 sleep study results for myself. And a summary of nose and throat surgery to increase oral airway.  2. For Secondary Hypogonadism induced by corticosteroid: 6 tests for total testosterone, SHBG, Estradiol, LH, FSH, pituitary. Semen analysis before, during and after corticosteroid treatment. YSTR data for recLOH markers, YSTR medical test results ruling out DAZ Y Chromosome deletions, karyotype analysis normal male results. Private YDNA SNP null allele by lack of PCR result, indicating either a micro deletion or an X to Y crossover event.


human_id: hu26E291
date: 2012-05-12 06:08:02
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Tarlov's cysts at S1S2 causing pain, neuropathy, bowel and bladder dysfunction.  Treated at John's Hopkins.  Multiple left sided spinal cysts.Micrognathia needing sagittal spit osteotomy


human_id: hu91F322
date: 2012-05-12 08:53:10
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Diagnosed with enteric reactive arthritis which is associated with HLA-B27 which I had a blood test for and I was HLA-B27 positive.


human_id: hu91F322
date: 2012-05-12 08:53:10
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  I can upload blood test results; there is one showing I am HLA-B27 positive and a lot of them just showing elevated ESR and CRP but nothing else unusual (negative tests for things related to other autoimmune diseases)


human_id: huD3A569
date: 2012-05-24 00:36:19
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  my mother who is 72 has had over 20 skin cancers, basal cell carcinoma and squamous cell carinomas, on her head and face. I have already had one basal cell carinoma on my ear and one squamous on my scalp. Although these are common skin cancers to get, it is rare for an individual to have so many as my mother, and I suspect given that I have had two before the age of 50 that I will have similar problems.


human_id: hu1843FC
date: 2012-05-24 01:00:16
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I have tested positive as a Tay Sachs carrier, as has a cousin on my father's side of the family.  My mother is not a carrier per her testing, which means my father is, though he hasn't been tested.I also have recently been diagnosed with multiple sclerosis, though I do not have typical symptoms.  I initially had a brain MRI due to some cognitive issues I was having which I thought were due to migraines, and this showed lesions which was followed by a spinal tap that showed 9 protein bands confirming a differential diagnosis of MS.  However, I do not have the typical early symptoms.  I believe whatever I do have is genetic in nature because my mother was also diagnosed with MS around the same age. Her symptoms were more compelling in that she had visual issues as well as white matter brain lesions similar to mine, but she only had 3 protein bands.  She, too, had cognitive impairment but never took meds and was later told that she had a single incident rather than the disease.  However, when I took her records to my MS doctor, a leading doctor in the field, he said that she would now still be considered to have MS due to the current criteria.


human_id: hu1843FC
date: 2012-05-24 01:00:16
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  I believe that I could access the genetic testing that I had done that verifies I am a tay sachs carrier.  My multiple choice answers pertained to this trait, though I could also download info about the MS and may have a relative willing to participate who was also diagnosed.  I don't have genetic info on the MS, only MRIs and spinal tap results as well as clinical observation notes.


human_id: huC53122
date: 2012-05-28 16:54:43
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I was born with white eyelashes on one eye and brown on the other. Also was born with a large white streak in my brown hair. I was told this was genetic.


human_id: hu9CDD0F
date: 2012-06-09 11:17:07
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I have heart disease and it started very early. I do not smoke, and have never smoked. I am overweight, but that is the only risk factor that I have for heart disease. Everyone on both sides of my family suffers from high blood pressure, so my thought is that it must be genetic. However, I'm not sure that it really counts as a severe disease. It may be a leading cause of death, but other than having to have a stent and taking lots of drugs and being careful with what I eat, it doesn't really have much effect on my life. Another thing, which I've recently learned can have genetic origins is anxiety. Every woman in my family suffers extreme anxiety. Panic attacks, etc. My sister is even on Disability because her anxiety is so severe. 


human_id: hu3F8570
date: 2012-06-13 18:00:08
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I have been living with Chronic Fatigue Syndrome for nearly 24 years now.  I believe there is a genetic susceptibility to CFS and I'm hoping you can find something in my DNA that might point towards a cause and a cure.


human_id: hu3F8570
date: 2012-06-13 18:00:08
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  Since there is no known cause for Chronic Fatigue Syndrome there is no test for it.  Basically, I've had tests to rule out other diseases with the same symptoms.  


human_id: hu5917F3
date: 2012-06-15 20:43:58
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  CSF with oligoclonal bandsBrain and spinal cord MRIs with and without gadolinium enhancementEvoked Potential testing


human_id: hu8602F1
date: 2012-06-16 22:43:15
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  I have photographs of my hands, my doctor has tested me extensively for autoimmune disorders with negative results.  My mother had severe raynauds from appx. age 30 until her death at 69. The onset of raynauds in my case was late, October 2011.


human_id: hu11603C
date: 2012-06-22 23:00:36
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Early-Onset Parkinson's Disease (Answering for this disease)Ehlers-Danlos SyndromeBenign Hyperphenylalaninemia


human_id: hu11603C
date: 2012-06-22 23:00:36
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  I have genetic tests that show I have the highest risk for Early-Onset Parkinson's Disease on multiple genes. I also have passed a drug trial to control my symptoms and have been formally diagnosed by a neurologist as having Early Onset Parkinson's Disease.


human_id: hu094BE5
date: 2012-06-23 16:15:35
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I have what I believe to be an autoimmune subsystem which is characterized by false chill episodes and a %22jumping%22 or %22migrating%22 deep false itch episodes.


human_id: hu9EA336
date: 2012-06-27 18:41:39
phenotype_category: Participant_Survey:Race/ethnicity
phenotype:
  American Indian / Alaska Native, Native Hawaiian or Other Pacific Islander, Black or African American, White


human_id: hu5DD02A
date: 2012-07-19 11:02:30
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Hashimoto's Hypothyroid; CFS; neuropathic pain, allodynia, hyperalgesia; Inflammatory Bowl Disease; Remitting/reletting autoimmune inflammatory reactions; arthritis; temperature intolerance; pathogen-induced autoimmune disease.


human_id: hu22D7F9
date: 2012-07-31 00:33:17
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I have been diagnosed with cancer 4 times with three primary cancers. In 1996 I was diagnosed with stage IIIB ductal carcinoma in my left breast. I was treated at Stanford with ACF followed by radiation and 6 months of CMF. The tumor disappeared without surgery.  Seven years later it recurred and I had an immediate mastectomy followed by Taxotere, Hereceptin and Cysplatin. In 2002 I was diagnosed with Stage 1 Lung Cancer and the midlobe of my right lung was removed.  In 2009 I had a malignant colon polyp removed. 


human_id: hu22D7F9
date: 2012-07-31 00:33:17
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  I'm willing to upload medical records. If you can access Stanford and Palo Alto Foundation systems I can release files directly to you.  Otherwise I'll request a direct data transfer if possible. If that doesn't work I'll see what is possible.


human_id: hu8ABBF8
date: 2012-08-02 23:40:51
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  brain MRIsI have at least one, which was done recently, and have had two more done as part of a study that I might be able to get.


human_id: hu97762A
date: 2012-08-03 17:48:45
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Myalgic Encephalomyelitis (ICD-9-CM code 323.9)Dysautonomia (Postural Orthostatic Tachycardia Syndrome & Neurally   Mediated Hypotension)Primary Immune Deficiency (undetectable IgA)chronic Lyme disease (neuroborreliosis)


human_id: hu97762A
date: 2012-08-03 17:48:45
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  abnormal SPECT scanmodified tilt table testingmultiple IgA <6positive serology & PCRs for tick-borne and other infectionsLMW protein in RNase-L


human_id: hu616CCD
date: 2012-08-05 12:40:47
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Morbid Obesity I toped at 500+ pounds. Had a Gastric Bypass in 2000. Saved my life, but today, I am back up to 420.This runs in my family along with Adult Diabetes. Grandmother, mother, her brothers and sisters (only 3 of 7 still living)


human_id: hu140B91
date: 2012-08-07 17:55:31
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Rheumatoid arthritis/auto-immune disorder triggered by gluten sensitivity (I am DQ2).  I have been diagnosed with RA.  My maternal aunt had RA.


human_id: hu174334
date: 2012-08-10 16:33:48
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Hospitalized for Stevens Johnson Syndrome 11/09, followed by DVT and hospitalization 12/09.Subsequently developed squamous cell cancer , with two surgeries right groin cancer.  A pathologist did sample of  cancerous specimen and Genzyme report showedEMA                           Epithelial Membrane Antigen (E-29)GCDFP-15                 Gross Cystic Disease Fluid Protein 15, Breast, Salivary GlandS100                            S100 Protein, Nerve Sheath Tumor, Melanoma, Chondrocyte TTF-1                         Thyroid Transcription-1 Lung and thyroid Carcinoma P63 (Pab 1801)           Mutated Tumor Suppressor Gene (PAb1801)  Subsequent Cisplatin and full pelvic radiation-developed Cisplatin toxicity and radiation internal and external burns. Questions remain-inherited bullous disease or ?


human_id: huAB8ED9
date: 2012-08-10 17:31:48
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I have Bipolar Disorder which I believe is genetically rooted in the fact that mother and father are both alcoholics as well as my mother's father.  Suicide is very high in my family.I also have Hashimoto's autoimmune which I believe is also related to my family's weight issues, GI disorders, ADHD, alzheimers, HELLP syndrome, and sensory processing issues.


human_id: huD7960A
date: 2012-08-24 18:48:34
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I have been diagnosed with hypokalemic periodic paralysis, which affects about 1 in 100,000 people. HypoK-PP is an ion channel disorder that dangerously manifests with the use of hospital medications but also in response to food and the body's own internal chemistry. About 70% of HypoK-PP patients have a known genetic mutation. I am in the 30%, where the mutations are not found yet. My variant was said to be %22new%22 in that it frequently includes a loss-of-consciousness component as well as paralysis and weakness in the episodes. In HypoK-PP, an abnormal amount of potassium shifts into the cells, losing the potential difference that the cells need to function. It means that muscles can't contract in a full blown attack or can't easily contract in a partial attack. In my case it includes daily paralytic and weakness reactions to food, and dangerous unexpected paralytic responses to medications in the hospital, for instance, where I am unexpectedly paralyzed and unable to move, including breathing muscles. I could not call out, gesture or push a button to tell anyone that I was in trouble. Luckily, unknown to me, my oxygen status was being monitored. After I lost consciousness due to anoxia, the team came in and provided mechanical breathing assistance. My breathing was not back to normal for several days. This is not the only hospital emergency like this that I have experienced -- this team was trying their hardest to avoid this type of problem, but we had the problem anyway. Episodes started in my late teens (1970) in response to food, where I would become incapacitated for 72 hours (three days) after many of my meals. With a carefully controlled diet, I was able to shorten the episodes, but not eliminate them. On a Holter monitor (in 2009) the EKG components of my episodes were measured. Starting in a fasting state, my EKG is normal, or even good, with a pulse rate of about 59 beats per minute. Within a half hour the episode is apparent, with many PVC's (premature ventricular contractions), other arrhythmias, and then tachycardia, going up to a resting pulse rate of about 128 bpm. The EKG's also showed breathing difficulty. That day the episodes resolved in about five hours, where the pulse rate slowly came back to normal. But then a new episode came on because it was time for the next meal. So the 24 hour Holter showed 15 hours of abnormal EKG's, in response to food, slowly resolving in five hours each, that day. I am otherwise very healthy, but these daily episodes are very bothersome and severely limit my quality of life. 


human_id: huD7960A
date: 2012-08-24 18:48:34
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  1. I have excerpts from the 2009 Holter data that show the EKG's in response to food. 2. I have strength tests over time, first without HypoK-PP medication and then with HypoK-PP medication (walking speed on elevated treadmill, etc.) Many of these medications become ineffective after about about six to twelve weeks. 3. Finally, I have extensive results from a %22provocative test%22 that was performed in my cardiologist's office. It is similar to a modified glucose tolerance test, where carbohydrates were ingested, and then, over time, various measurements are taken. Measurements included strength (walking speed on treadmill), serum glucose, serum insulin, serum potassium, also comments by cardiologist over time. There were some very unusual results -- my fasting insulin levels started at about 8% of normal (I started at around 0.6 microunits per ml, where normal fasting insulin is about 7.0 microunits per ml). After ingestion of glucose, when the insulin levels first rose to be about 1 microunit per ml, I lost 1/4 of my walking speed, and was barely able to walk by the time insulin levels rose to 5 microunits per ml. In normal subjects, postprandial insulin levels can easily go up to 140 microunits per ml. Mine rose up to about 35 microunits per ml. I was not %22ok%22 again until the insulin levels fell down below 3.0 microunits per ml. The potassium shift into the tissues, out of the blood, was documented in response to the glucose ingestion, falling from 4.2 mEq down to 3.5, and then coming up to 3.9 -- all in the normal range. There were PVC's and arrhythmias during the test, too. This was not a severe attack, since I could still walk and did not lose consciousness -- in other attacks I can't move at all and also lose consciousness. 


human_id: huF40410
date: 2012-08-26 13:42:24
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Glycogen Storage Disease Type V (McArdle's Disease), autosomal recessive related to the PYGM gene responsible for creation of phosphorylase enzymes in skeletal muscle cells.  Prevelence in the general populations estimated as 1 in 100,000, though rate of diagnosis is only 10-15% of that figure.  First symptoms encountered around age 5-7 (severe leg cramps), diagnosis not made until age 28 (but not for lack of trying, darn it).


human_id: hu75BE2C
date: 2012-09-03 14:40:13
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  2012/Sep/03I submitted the following information via the web page at https://spreadsheets.google.com/spreadsheet/formResponse?hl=en_US&formkey=dHRaNUxmUHdVaktxZXdsRlVyMlIwUUE6MQ&ifqI must have an unusual genetic characteristic. No one with whom I have ever discussed the issue experienced the earth's magnetic field, etc. in the same way that I have. People who experience it differently probably imagine that I am insane.Everyone must be sensitive to electromagnetic forces to some degree, e.g., when an electrical current or bolt of lighting runs through their bodies. If our cells were not sensitive to electro-magnetic forces, could our muscles contract, or our brains think?I must be extra sensitive to electromagnetic fields and forces, possibly in the same or a similar way that whales, homing pigeons and other animals that must migrate great distances across the earth are.I have travelled in over seventy countries, e.g., deep into equatorial forests, I have never felt lost. I always know where I am and how to get home.When I was a child swinging back and forth in a swing caused me to feel as though my entire body was being tickled. The sensation was unbearable. I thought every child felt the same sensations. Later experiences caused me to ask other people if swinging back and forth caused their bodies to tingle when they were children. All of them have replied NO.Many years later I sensed the heavy electro-magnetic forces that were building up in the atmosphere around me a few seconds before a mild bolt of lighting ran through my body. That lighting exited via my feet and some metal tools that I held in my hands (my fingers remained sore for a long time afterwards).I wonder why I inherited these unusual characteristics. I am interested in genetic genealogy. My DNA tests and those of my cousins show that nearly all of my ancestors were Celts and Vikings from Scotland and Ireland. The Vikings sailed to America centuries before Columbus. I wonder if evolution caused them to develop some of the same genetic characteristics that whales, etc. have.I bought a cheap cell phone a few years ago. I do not know if it was defective. My hands tingled when it rang or transmitted signals to the tower. The first and only call that I ever made via that cell phone lasted 52 minutes. Towards the end of that call I felt something creeping up the left side of my head (where I held the phone). The sensation became so awful that I ended the call without saying Goodbye. The left side of my head hurt so bad that I thought that I had a toothache or flu infection at first. The pain became unbearable and lasted for many years. My left eye stopped blinking. I am no longer able to focus my left eye. A large scab developed where I held the phone. The skin where I held the phone was discolored. I had tinnitus for years. The tissues in the left side of my head were damaged in other ways too. I shall not bore you with all the details.I hope that whatever genes caused me to be so sensitive to electromagnetic forces will be discovered so that people who inherited them can be made aware of how cell phone use may affect them.


human_id: hu718EB2
date: 2012-09-13 20:57:29
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Diagnosis of Discoid lupus erythematosus; have not yet been tested for SLE. Immediate family history includes autoimmune diseases such as non-hodgkin's lymphoma and thyroid disorders.


human_id: hu718EB2
date: 2012-09-13 20:57:29
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  Two Skin Biopsies - Dx ICD9: 695.4 (Discoid Lupus Erythematosus) & 238.2 (Neoplasm uncertain behavior Skin). Also have preliminary results from Pathway Genomics Health Condition Report indicating three associated SLE related genes/variants: (ITGAM, rs1143679, G/G), (PTPN22, rs2476601, G/G), and (STAT4, rs7574865, T/G).


human_id: huF5D986
date: 2012-09-19 14:14:07
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I think I might have a rare genetic condition that has to do with how my immune system functions because I have been plagued with several diseases and serious conditions throughout my life and I am very sensitive to foods, drugs, lotions, perfumes, my own sweat and many external and internal substances, listed below:age 14-17: 2 very large juvenile fibroadinoma tumors in my right breastage 26-32: Onset of severe food allergies to dairy, eggs, sugar, mushrooms, bananas, dx with Hashimotos Thyroiditis, Malignant Melanoma x2, Swine Flu and several other severe colds, flues and itises (Bronchitis, tonsillitis, etc). If someone with a cold comes near me or I touch something they touched, i will get sick.  Autoimmune diseases run in my family as does cancer of many kinds. 


human_id: huF5D986
date: 2012-09-19 14:14:07
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  Cancer: I have surgery pictures and lab tests for both my Melanoma surgeries.Breast Tumors: I have the surgeons notes and draw up of my tumors.Hashimotos Thyroiditis: I have lab tests that prove I have the titers.Colds, Flu & allergy: I have several chest x-ray results, colonoscopy results and images, allergy blood and skin testing results, ultrasound results, and several other blood tests done throughout my 20s and 30s.


human_id: hu16FFF2
date: 2012-09-25 20:21:47
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  HHT or formerly called Oslo-Weber Disorder.  Its main symptoms include nosebleeds as well as tiny pink spots (blood vessels) on the skin.  As you age, the condition worsens.  It can aversley affect the brain, heart, lungs and liver.Pomagranate seems to aid in reducing the nosebleeds.  I am currently taking 500mg of pom extract daily.


human_id: hu5FA322
date: 2012-09-26 16:28:03
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Poor detoxification -  have NULL  GST-T, GST-M, mutant CYP450-2D6 (ext metabolizer), CYP450-2C19 (poor metabolizer), CYP450-2C9 (ext metabolizer), NAT2 catalytically inefficientHave symptoms of %22portal systemic encephalopathy%22 including 4-6 Hz EEG %22spike & wave%22familial Aortic Aneurysms 


human_id: hu5FA322
date: 2012-09-26 16:28:03
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  The genetic data on CYP450s, Nat2, GSTs - can't figure how to upload thepicture of the EEG %22spike and waves%22  - we're trying hard to get my exome done.


human_id: hu8622BD
date: 2012-09-30 15:22:41
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  kidney cancer, my maternal uncle also had kidney cancerthyroid nodules, my mother, maternal aunt, maternal cousin have this


human_id: hu519DE2
date: 2012-10-01 17:44:41
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  results of histology after right knee arthroscopic surgery 4/23/12 confirmed diagnosis of synovial chondromatosis, am awaiting same result from arthroscopic surgery on left knee on 9/21/12


human_id: hu0E4BBC
date: 2012-10-01 20:10:11
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Can't drink or smell alcohol without severe physical effects.  Severe effects from cigarette smoke.  Become very addled mentally when pregnant.


human_id: hu04693B
date: 2012-10-04 22:09:07
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Charcot Marie Tooth (not sure if this counts as severe or not) *answering about CMTWas diagnosed with Polycystic Ovary Syndrome by one general practitioner, but a second GP was not convinced. 


human_id: hu774230
date: 2012-10-09 23:01:24
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I am undergoing testing to determine whether I have celiac's disease or a gluten sensitivity. Based on family health history, my doctor suspects celiac's. I am currently waiting on the results of my gluten challenge and following egd/biopsy.


human_id: huED0F40
date: 2012-10-12 06:29:29
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  My 11-year-old son was just diagnosed with scoliosis, becoming the third generation diagnosed with spinal malformation. My son also has periodic low HDL in blood draws. While researching causes of kyphosis to prep for my son's fall 2012 orthopedic evaluation, I discovered Marfans Syndrome, Ehlers-Danlos and other genetic connective disorders for the first time. Since early childhood, I could bend my thumbs and hand far back, pop both my knee caps in & out of joint, and I could wrap my legs into a lotus position and then lift my crossed legs to touch my chest, multiple times like a seated situp. My father's 1995 severe mitral valve prolapse echocardiogram with enlarged aortic stem, his (and my) history of early arthritis detected in the spine, his very low body weight (143 - 150 lbs almost all of his adult life (until it went lower in his 60s) despite being 6'4%22 with long slender limbs & fingers, and a family history among uncles of hip dysplasia, multiple hiatal and inguinal hernias and chronic pain all made sense related to a connective tissue disorder: either Marfans or EDS. My geneticist visit is not until Spring 2013 at Johns Hopkins Hospital, but my Aug/Sep 2012 opthamologist, cardiology, radiology tests are all showing signs of connective tissue disorder of some kind, more like Ehlers-Danlos in my case (I.e. no aortic stem enlargement on my own 2012 echogram and only mitral valve degeneration, not full prolapse-- my father was 66 when his first echo was done and he died before a followup was done.). Most of the men on my father's side of the family tend to die months ahead of or after turning 67, despite different levels of healthful behavior, levels of medical care, etc. going back to the 1920s, as though parts have %22worn out%22 at that age.


human_id: hu9D3638
date: 2012-10-12 12:25:23
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Well, maybe it's not that rare, and definitely not severe, but potentially important for the health of many people.I have IgA deficiency.


human_id: hu9D3638
date: 2012-10-12 12:25:23
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  I think I can my providers at Harvard University Health Services to send me an electronic copy of my blood test results. From the negligible (undiscerably low) IgA count reading, the diagnosis is obvious.


human_id: hu174334
date: 2012-10-12 16:43:40
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I have had many severe adverse reactions to Rx and supplements including, Stevens Johnson Syndrome, DVT, 12 squamous cell skin cancers, 1 basal cell skin cancer, 2 right groin squamous cell cancers.Also genetic CAD but with PAD.


human_id: huBAA265
date: 2012-10-12 20:51:47
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I was born with the rare congenital non-spherical hemolytical anemia, that was corrected several years later via multiple blood transfusions.Related to that, we believe I have one or more types of Porphyria.  It has not formally been diagnosed due to the difficulty in maintaining viable biological samples.  I have had my blood studied by the lab at Mt. Sinai Hospital, but they did not find that I had a mutation previously documented,  They did not do a sequencing of my genes.I am a carrier for Hemochromatosis, which is strongly linked to one of the skin varieties of porphyria, PCT.  I have symptoms consistent with PCT, as well as EPP (another skin type, associated with congenital hemolytic anemia), and HCP, one of the acute porphyrias.I have Wolfe Parkinson White Syndrome, a hereditary electrical disturbance in the heart, which has been corrected via ablation surgery.I have other health problems, but these are the ones that are more severe and rare.


human_id: huBAA265
date: 2012-10-12 20:51:47
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  I have the records from my birth, that discuss the hemolytic anemia.  The records had to be obtained from the naval hospital archives and are limited to a few pages of test results.On the porphyria, I have very little, other than confirmation by the recognized expert on the subject,  Dr. Anderson from UTMB in Galveston, who said that my symptoms leave a strong suspicion of porphyria.  I have the negative genetic results from Mt. Sinai, which are not conclusive, since there are many unique mutations of Porphyria that have not been documented, due to limited availability (only Mt. Sinai in the US), the high cost of testing, and the fact that many may not even know about Porphyria to seek diagnosis.On the WPW, I'm sure I could obtain an electrocardiogram that shows the unique electrical wave pattern of the disease.  Or something more from my cardiologist.  It was successfully ablated, so I no longer have it.  My maternal aunt also had WPW that was ablated.The carrier status of hemochromatosis is noted on my 23andme profile.


human_id: hu0B100A
date: 2012-10-16 22:57:56
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Capable of voluntary shoulder subluxation. (this will be answered for)Homosexual male.ADHD.Left-handed.Blue-eyed.Cannot taste phenylthiocarbamide.


human_id: huB5A0DF
date: 2012-10-17 23:35:01
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Heteroplasmy - I am not sure if this falls under a rare trait but feels it needs to be mentioned here for research purposes.  I have read that it was once considered very rare but as more genomes are sequenced it is becoming more common.


human_id: hu569A8F
date: 2012-10-18 09:20:26
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Multiple Sclerosis.  I, like everyone else, do not know if there is a genetic cause or a possible genetic and environmental combination. Not sure if MS is considered a severe disease in all cases, either


human_id: hu42F87B
date: 2012-10-20 23:41:51
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I was diagnosed with MS in 1988.  Recently my neurologist has discussed the possibility with me that I may have a mitochondrial myopathy of some kind instead of MS.


human_id: hu592A16
date: 2012-10-24 21:11:14
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Hughes Syndrome (antiphospholipid syndrome) My mom had multiple sclerosis. I strongly believe the two are genetically linked.


human_id: huB9F2F3
date: 2012-11-14 09:30:39
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  There are autopsie results from biopsies for myself, my mother and my sister.  My maternal uncle also had melanoma - 


human_id: huE57FEC
date: 2012-11-19 17:50:24
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  The diagnosis was made in 1992, and confirmed at a medical school teaching hospital in 1994. Although the records are old, my understanding is that the data is still available, but it might take a while to get it.


human_id: hu76CAA5
date: 2012-11-22 15:41:16
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Atrial fibrillation with rapid ventricular response. Currently dependent on propafenone to suppress the malignant. Recurrence of atrial fibrillation invariably leads to rapid ventricular response requiring emergency cardioversion (will not convert with IV medication regimen). The invariable rapid ventricular response is the component that distinguishes it from %22typical%22 atrial fibrillation. Atrial fibrillation is always malignant for me, which is why I am dependent on propafenone extended release (a very expensive medication) versus anticoagulation with Coumadin. The Coumadin can reduce the  stroke risk, but does nothing to control the tachycardia of 130-140 associated with the atrial fibrillation. I live a normal life as long as I have access to the propfenone extended release. This may be a problem in the near future.


human_id: hu76CAA5
date: 2012-11-22 15:41:16
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  Two full reports by cardiologists of emergency cardioversions. Another report available by submission of a HIPAA request form.


human_id: hu8A5FBF
date: 2012-11-28 20:50:45
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Ulcerative Colitis (extremely severe pancolitis)(replies below apply to this condition)Other Current:Dry Macular Degeneration Prostatic HyperplasiaOther Past:AsthmaMelanoma


human_id: hu8A5FBF
date: 2012-11-28 20:50:45
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  Medical records from Stanford HospitalMedical records from Palo Alto Medical FoundationSeries of colonoscopies (images and reports)(*) I can give both Stanford and PAMF permission to release my records, and I also have some of the reports/images in CDs. 


human_id: huCD90E3
date: 2012-12-03 05:15:05
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  All of my paternal male relatives have a significant amount of body hair compared with other caucasians.


human_id: huF8D320
date: 2012-12-06 14:50:40
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I have ulcerative colitis. I think that it is genetic, because there are people with inflammatory bowel diseases on both sides of my family.


human_id: huD09050
date: 2012-12-13 15:36:54
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  1. Pyloric stenosis (answers below pertain to this trait)2. Polydactyly (no trait, but son and father have trait - I'm a carrier)


human_id: huB10361
date: 2013-01-09 13:24:32
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Ehlers Danlos with Marfans overlaps - CSF leak history (cranial) multiple small nerve root diverticuli throughout spine- low IgM (25)- I wasn't diagnosed until 2010 (previously was dx'ed with lupus with Behcet's features).


human_id: huB10361
date: 2013-01-09 13:24:32
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  several geneticists' clinical reports- overlaps with symptoms/hypermobility- my disease progression is more severe in downward spiral than most- we do not know WHICH type of EDS I have and/or if I have a concomitant neuromuscular or autoimmune etiology.


human_id: hu101EF8
date: 2013-01-25 23:22:10
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I had Rheumatic Fever as an adult.  I was about 33 years old.  Was hospitalized for 6 + weeks.  No permanent heart damage.I was diagnosed with Myasthenia Gravis in Feb 2004 at age 71.  It was quickly controlled by drugs.  However, in April 2004 I was bitten by a dog, which was never captured.  Thus, I had to have the rabies shots.  This activated my MG & I ended up in ER with breathing difficulties.  I am now (25 Jan 2013) w/o symptoms & off all medications for MG..  


human_id: hu17EA24
date: 2013-01-30 22:40:03
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  specific inability to navigate- developmental topographical disorientation. I cant find my way around in even the most familiar places. I get lost going to routine places and cant find my way around inside buildings. This has gone on since I can remember, and another sibling is similar. I have also been diagnosed with bipolar disorder, but that is the more 'normal' abnormal trait.


human_id: hu8B2C08
date: 2013-02-03 13:56:10
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Hashimoto's Thyroiditis, autoimmune disease although not sure how %22severe%22 it is, medication is required for the lifetime of the individual after diagnosis. I have a half brother on my mother's side who also has this diagnosis; my mother is hypothyroid but not necessarily Hashimoto.


human_id: hu8B2C08
date: 2013-02-03 13:56:10
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
    03/1/12 21:48  Milne-Krohn  reviewed. thryoid peroxidase was positive. this is the antibody that is high with hashimoto's thyroiditis (the autoimmue disoder that commonly affects thyroid labs). youw ill likely need thyroid meds long term.    LABCORP COLLECTED: 02/29/12 00:00 RECEIVED: 02/29/12 23:11 REPORTED: 03/01/12 08:21    REPORT STATUS: FINAL Test Name   In Range  Out of Range  Reference RangeLabThyroid Peroxidase (TPO) Ab: Final  Thyroid Peroxidase (TPO) Ab    142 H  0-34 IU/mL  01  01: LabCorp Herndon, 13900 Park Center Road, VA, Herndon 201710000


human_id: hu22577A
date: 2013-02-04 15:28:00
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Type 1 diabetiesConcomitant:  HLA markers   Glaucoma and macular degeneration   Neural issues (Dad had ALS- and Essential tremors)  essential tremors  Advanced Kidney disease  3 stent/heart


human_id: huEAE6C8
date: 2013-02-12 21:44:30
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I'm not sure how you define %22severe%22, but I have been diagnosed with PCOS, bipolar disorder, fibromyalgia, and am in the process of being diagnosed with Aspergers Syndrome (HFA).t is my feeling that everything stems from a neurological/hormonal problem (HPA axis) like hypothalamus problems, but I have no real evidence of this.  Oh, and I identify as %22asexual%22 which means I am not sexually attracted to anybody (for the most part) and in my case that I have virtually no libido.For the purpose of this survey, I guess I'll use fibromyalgia.


human_id: huEAE6C8
date: 2013-02-12 21:44:30
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  I use patient gateway so I have copies of some of my lab results.  I am willing to provide any information that I can easily obtain.


human_id: hu580F49
date: 2013-02-18 12:54:26
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Food intolerance to artificial food coloring/preservatives. Causes severe stomach discomfort, and may include sweating, fainting, paleness, and headaches depending on the amount consumed.  


human_id: huB89823
date: 2013-02-18 18:07:56
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  depression (chronic clinical, formally diagnosed and difficult to treat)asthma (with apparent airway remodeling, difficult to treat in childhood, and relatively stabilized in adulthood)


human_id: huB89823
date: 2013-02-18 18:07:56
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  For Depression: clinical notes / medical recordsFor Asthma:  spirometry test report and medical records


human_id: hu3AAA9E
date: 2013-02-26 17:52:33
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  HSV1 - father, aunt, cousins have this. Mine appears on my left eyebrow. First outbreak was in 1995, I was 8 years old.


human_id: huD94CBF
date: 2013-03-03 22:13:07
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I have bipolar disorder. I have been hospitalized multiple times for it. I am considered 70% disabled by the VA, and also disabled by the Social Security Administration.


human_id: huAC3640
date: 2013-03-06 01:13:03
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Trait - Beginning approximately at puberty.  I believe it to be possibly metabolic in nature.  I am unsure as to the possible severity, and even whether it is all related, but I am suspicious as my teen daughters seem to be following in my footsteps.  Doctors seem relatively unconcerned.Beginning at puberty, I would feel extremely ill in the early mornings especially if I did not get enough rest - my youngest daughter vomits repeatedly and violently under the same conditions.  If genetic, she has it worse than I.Also beginning at puberty, I have been unable to eat sugars on an empty stomach.  To do so results in a severe drop in blood sugar a couple of hours later, even to the point of near loss of consciousness when younger.  I never knew anyone who reacted as I do until my oldest daughter reached puberty and the same happened to her.  It continues occasionally to happen to her and I worry constantly as she has had some really bad spells that she had a difficult time pulling out of.  Finally, throughout my lifetime I have had numerous unexpected reactions to various drugs, and I have had several unexplained losses of consciousness in the past few years, one especially severe that resulted in a head injury/fall.  These do not, however, seem to be linked to blood sugar issues as it was measured at 110 at the hospital immediately afterwards.


human_id: hu02BA92
date: 2013-03-06 07:12:40
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I have a number of different serious disease processes that I believe may be a single genetic predisposed entity. Liver disease in the form of hepatitis c and with cirrhosis, NASH, but I had NASH before the hep c. I also have splenomegaly, portal hypertension, peripheral artery disease, peripheral neuropathy, enlarged heart, diabetes 2, ADDHD


human_id: hu097A26
date: 2013-03-13 14:42:55
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Highly likely genetic predisposition to patelae abnormalities, me, my mother, and my mothers sister have patelae that dislocate, though the severity differs by person. I have the worst symptoms. There has been no formal diagnoses, just treatment via surgery and lifestyle adjustment.


human_id: huC93609
date: 2013-03-13 14:52:46
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  I have already done some genetic testing as well as have significant amounts of radiological as well as pathological documents demonstrating the disease as well as the growth patterns which appear to be different the most people with the %22typical%22 carcinoid/neuroendocrine disease profile


human_id: hu09D626
date: 2013-03-14 12:33:27
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  1) clinically diagnosed as having Ehlers-Danlos Syndrome2)  was told I had a Emery-Dreifuss Muscular Dystrophy recessive(?) gene - something about SNP 'rs61046466' in the gene 'LMNA  lamin A/C'no biological family medical history after birth, but I have had strange symptoms since I was a baby but mainly once I started walking.


human_id: hu09D626
date: 2013-03-14 12:33:27
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  I don't have any genetic testing or documentation for EDS, all documentation in clinical and experience related.  this was diagnosed by a doctor and in my medical history.as for the EDMD, this was just brought to my attention when my raw genome data from 23andme was run through openSNP.  i was told that i had many rare/uncommon SNPs including one linked to EDMD.  I have uploaded this raw data.


human_id: hu756D3A
date: 2013-03-21 15:40:22
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Autoimmune liver diseases: *Primary Biliary Cholangitis (or sometimes Cirrhosis), Autoimmune Hepatitis, Porokeratosis


human_id: hu618103
date: 2013-04-02 13:00:49
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  PDF record transcript from Mass General including muscle biopsy results, lab work, and clinician's notes.


human_id: huEBA8B1
date: 2013-04-09 13:14:52
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Auto immune variously diagnosed as lupus, Crohn's, Sjongren's, Psoriatic Arthritis, Spondyloarthropathy, inherited from mother's sideOrthopedic and soft tissue anomalies including cervical ribs (from father's side), possibly involving the warping of my right hip structure,  and an oddly placed appendix - traits shared by other family members


human_id: huEBA8B1
date: 2013-04-09 13:14:52
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  I'll have to dig into my medical records, mostly office notes and some surgical notes, to see if any of them contain mention of the orthopedic anomalies.


human_id: hu51322A
date: 2013-04-11 13:45:50
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I have rheumatoid arthritis and would love to participate in any study that would identify the genetic markers for this disease.


human_id: hu19B7A0
date: 2013-04-17 02:30:21
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  CT scans of onset of disease, blood lab results for 8 years, PANCA and ASCA gene testing, colonoscopy and endoscopy images


human_id: huAF9B09
date: 2013-04-17 03:24:08
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  several colonoscopies, endoscopy, and each year I get my blood tested for a comprehensive metabolic panel, CRP, sedimentation rate, CBC


human_id: huE11A1A
date: 2013-05-16 17:46:08
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  My clinical diagnosis of Young Onset Parkinson's Disease was made in November of 2011.  I have Clinic Summarries from my neurologist (a movement disorder specialist) as proof, but otherwise they are not particularly interesting.  


human_id: hu911FDC
date: 2013-05-18 18:51:17
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I have had acute attacks with severe abdominal pain, nausea, vomiting, severe peripheral neuropathy, muscle weakness, seizures, hallucinations, rapid heart rate, severe constipation and/or diarrhea, insomnia, paralysis of gut (food does not move through system). The acute attacks can be caused by stress, infections, alcohol consumption,certain drugs, fasting or even something as simple as being in an elevator with a person wearing strong perfume or other things like car exhaust or bus fumes. My urine becomes fluorescent orange and if placed in sunlight my urine darkens to the color of coke. 


human_id: hu3F13EF
date: 2013-06-03 00:02:35
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I was diagnosed with myopia at age 7, probably had onset at earlier age.  Myopia has been progressive throughout life.  Astigmatism started in 20's, both eyes. Left eye is -6, right eye -6.25.Presbyopia started as inability to see %22near%22 with contact lens correction of myopia, but very-near acuity remains excellent without contact lens or glasses.


human_id: hu3F13EF
date: 2013-06-03 00:02:35
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  Not directly relevant to myopia, but I do have optic nerve imaging and eye pressure measurements to contribute.  I will need to get the documentation from my ophthalmologist.


human_id: hu1CCE96
date: 2013-06-03 21:40:34
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Autonomic Nervous System Dysfunction (Postural Orthostatic Tachycardia Syndrome), Connective Tissue Disorder & Raynaud's


human_id: huBD8A03
date: 2013-06-20 17:48:29
phenotype_category: Participant_Survey:Disease/trait: Documentation description
phenotype:
  My MRI's show no lesions. I have had a spinal tap test positive for oligoclonal bands. Neurologists at several hospitals say it is a rare benign form of MS. I have had limb numbness from my toes to my waist. I have also had optic neuritis. I can produce these records if needed.


human_id: hu52B90E
date: 2013-07-20 19:33:05
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  *Epileptic seizures between age 0-2years.*Phenobarbital age 2-5years*No seizure occurrences since.*Age 30yrs awaken immobilize.  All test were normal. Muscle relaxers and narcotics returned me to my previous normal.  Realization: living with pain and lethargy is abnormal.*Age 33yrs take Bactrim for 10 days and feel wonderful.*Begin %22Anti-folate%22 diet.  Take metholated-folate multi-vitamin.  Pain reduction and lethargy improvement.  *Genetic test MTHFR is normal.*Positive experience with Beano: alpha galactosidase.  Begin taking 50 beano per day with positive results.*Anderson-Fabry disease test is normal.*Well being continues to be unstable.*Realize carbohydrates are the culprit; folate is innocent.*Purchase and test:Fructose, Dextrose, Lactose. Fructose is sharply and swiftly painful.  Dextrose is less severe.  Lactose seems benign unless taken in high doses.  *Determine any complex carbohydrate or vegetable/fruit is painful and tiring.*Try conversion to meat/fat diet.  After 10 days I felt compelled to take lactose.*Preliminary tests are negative for Glycogen Storage Disorder Type 7 phosphofructokinase.*New hypothesis: Genetic Disorder of Glycosylation.


human_id: hu8DDB68
date: 2013-07-28 22:37:52
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I have or had before I donated a kidney, a bilateral duplicated collecting system. (Not sure if that is rare or not)


human_id: huF5E454
date: 2013-07-31 15:02:51
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I am a carrier for several diseases.  I don't know if you need that info but if so, I am a carrier for Cystic Fibrosis and Tay-Sacs. I have already completed an initial DNA testing with 23andme.  I am happy to share all of that info with you guys.


human_id: hu4D1CC2
date: 2013-08-07 00:32:58
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  My mother was adopted and doesn't know her biological parents or heritage, so my maternal side is quite vague. My father is not, nor has ever been, in my life so I know very little of his heritage. My mother is diagnosed as bipolar and there is some history of eczema that runs on my father's side. Other than that I have no knowledge of my family history.I do know, however, that I have a rare blood type, which is AB negative.


human_id: hu43294F
date: 2013-10-01 06:20:29
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Supernumerary Kidney- Two kidneys with two ureters opening separately into bladder.'AG'  - rs72653744  ABCC6  ATP-binding cassette, sub-family C (CFTR/MRP)mtDNA Haplogroup H1bm'TT'  - rs34548758  CASR  calcium-sensing receptor  I have Lupus, Chiari 1, Sjogrens, Raynauds, Spinal Stenosis as well as other congenital anomalies, Spina Bifida Occulta...off the top of my head.My family has Lupus, Polyglandular Autoimmune Syndrome, Hashimoto's, Graves, A fib, Autoimmune Hepatitis, Hyperparathyroidism, Type 1 & 2 Diabetes, Meniere's, Congenital Heart Defects...others.gs192, gs250, rs4680(G;G), rs1800566(T;T) - + many other cancer risks


human_id: huAD225A
date: 2013-10-17 02:14:24
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Genetic Traits:Attention Deficit Hyperactivity Disorder (ADHD) is genetic from my paternal lineage as well as hypertension. I have been diagnosed with Early Onset Dysthymic Disorder.


human_id: hu3891E3
date: 2013-11-07 20:54:04
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Severe Family history of schizophrenia on both sides of family. in parents generation, four of seven diagnosed


human_id: hu61F3D9
date: 2013-11-08 12:13:33
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Mother has a rare form of glaucoma. Optic nerve degeneration w/o increased pressures. Don't know if I have it though.


human_id: hu155D20
date: 2013-11-10 20:56:05
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  No severe genetic diseases/rare genetic traits. According to my 23andMe data, the only genetic disease I have a significantly higher proclivity for (4.2x higher) is venous thromboembolism. I am heterozygous (CT) in the rs6025 SNP of the F5 gene/region and have A+ blood type.


human_id: hu9AB964
date: 2013-11-11 23:52:49
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Recently I was found to have somewhat elevated blood bilirubin levels, but otherwise normal liver enzymes, suggesting Gilbert's syndrome. This has not been directly confirmed genetically.


human_id: huECF94A
date: 2013-11-12 13:13:47
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  family history of profound early onset hearing loss.    me includedHLA-B27     have psoriatic  arthritis and/or ankylosing spondylitis


human_id: hu35020C
date: 2013-11-15 22:33:07
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  4 generations of cancer on Father's side: colon, intestine, melanoma.  Radical hysterectomy for one sister, colon and ovarian for one cousin, melanoma for one male cousin


human_id: hu294056
date: 2013-11-16 02:34:22
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Ehlers Danlos type not yet know. I have had a blood draw to type it and also check for hereditary aortic dissection since my Father died at age 35 due to aortic dissection.


human_id: huB11146
date: 2013-11-19 14:32:02
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I Frequently (weekly) suffer %22Stomach%22 Complications and Pain.(Un-Diagnosed) I had Ulcers (diagnosed) at an early age of 13 years old (3-4 Ulcers) diagnosed and had an endoscopy at the time. My paternal family also had history of Stomach Complications and Stomach pain and a history of Alcoholism and Depression. My maternal family has History of Heart complications and Alzheimer's.


human_id: huB11146
date: 2013-11-19 14:44:14
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I weekly suffer Stomach Complications and Pain (Un-Diagnosed). I had ulcers at 13 years of age (3-4 Ulcers)  and had an endoscopy at the time (diagnosed). My paternal family has a history of Stomach Complications and Stomach pain and a history of Alcoholism and Depression. My maternal family has History of Heart complications and Alzheimer's.


human_id: hu5325EC
date: 2013-12-07 02:15:13
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I have a circadian rhythm sleep disorder, Delayed Sleep Phase Disorder.  I also suffer from idiopathic hypersomnia.  


human_id: hu5C5920
date: 2013-12-07 10:48:28
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I have Asperger's syndrome, I also have a genetic metabolic disorder (like or is a form of Porphyria.)


human_id: huC62047
date: 2013-12-23 21:06:37
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I have had metaplastic carcinoma of the breast twice. Once in 2/12 and once in 2/13. This is a very rare breast cancer. I am BRCA1&2 negative and also have had the BROCA test with no known mutations detected. The first tumor was:Low grad spindle cell metaplastic carcinoma arising from a sclerosed papilloma with and in situ squamous cell carcinoma component.The second tumor was:Microscopic examination reveals a malignant neoplasm, characterized by intermediate to high nuclear grade cellular proliferation. The tumor cells are predominantly spindle in shape and are focally arranged in short fascicles. In other areas they line irregular spaces leading to a pseudoangiosacromatous appearance. Immunohistochemical studies demonstrate strong immunoreactivity with cytokerartins CK AE1/3, CAM 5.2, CK 34BE12, CK 5/6 and p63 in the later areas and only focal staining in the spindle cell areas. The tumor cells are also strongly positive for vimentin, and negative for s-100, CD34 and SMA. Proliferation index (Ki-67) is positive, 22% nuclear staining (Unfavorable).Ki67 clone MIB (Dako).The morphologic features and the IHC results are consistent with metaplastic carcinoma with areas of spindle cell carcinoma and squamous cell carcinoma, acantolythic viariant.


human_id: hu450107
date: 2014-02-05 11:44:38
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  My father's family is Ashkenazi and his grandparents immigrated to the US from Europe.  My mother was adopted and we do not know much about her biological ancestry.


human_id: hu28391C
date: 2014-02-25 03:02:21
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Not sure how rare it is, but I am affected by a deformity known as Hypospadias. Mine is not severe; I have normal to heightened orgasms and have produced two children (both sons). I only found out that it was not normal recently. I knew I looked different to other men, but did not know what was wrong. I went to a urologist for help with an enlarged prostate and trouble urinating and erectile dysfunction and he told me that my penis was deformed and explained what was wrong. I read about it on the Wikipedia web site and apparently it is not that rare, but there are severe cases that require surgery. I am uncircumcised or partly circumcised and I read that could have contributed to the problem. However, I think most are a birth defect.Perhaps you could shed some light on this or confirm or deny my findings.


human_id: huBAEEB0
date: 2014-02-25 14:03:48
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  History on maternal side, including my maternal grandfather, of massive heart failure and death pre- 60 years old.


human_id: huE8E4FC
date: 2014-03-01 15:43:11
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  mitochondrial ND1 A3397G pathogenic Associated with type II diabetes and left ventricular non-compaction:http://omim.org/entry/516000#0005http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199476120http://www.ncbi.nlm.nih.gov/pubmed/12035616APC I1307K rs1801155=A  pathogenichttp://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1801155heterozygous carrier for the risk allele for colorectal cancer, common among Ashkenazi Jews, and also found among Sephardic and Mizrahi Jews, as well as Christian and Muslim Palestinians and Negev Bedouinhttp://snpedia.com/index.php/Rs1801155LPL N291S (or N318S  in Build 37) rs268=G pathogenicautosomal dominant risk allele for hyper-triglyceridemia, venous thromboembolismhttp://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=268APOE4 heterozygous  rs7412=C and rs429358=C LPL N291S (rs268=G, autosomal dominant risk allele) with APOE4 (heterozygous) and the common variant APOA5 S19W (rs3135506=C have an additive effect on the risk of high triglyceride levels,  in addition to a risk for high LDL cholesterol:http://www.biomedcentral.com/1471-2350/11/66/CCR5 delta32 heterozygous rs333=delWhile carriers of the CCR5 delta32 allele have a slower progression of HIV infection, the allele also carries a greater risk for severe influenza:http://wwwnc.cdc.gov/eid/article/16/10/10-0108_article.htmhttp://wwwnc.cdc.gov/eid/article/16/10/10-0108_article.htm


human_id: huAE4A11
date: 2014-03-02 10:04:36
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  From when I was 8 years old until around age 18, I had a rare autoimmune neuromuscular disorder which was diagnosed as chronic inflammatory demyelinating polyneuropathy.  I have a paternal family history of other autoimmune diseases such as lupus, asthma, and eczema.


human_id: huCCF18D
date: 2014-03-02 11:29:47
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I carry a rare genetic mutation (D178N) on the prion protein gene (PRNP.)  This mutation (in cis with the 129M polymorphism) has been associated with familial prion disease.


human_id: hu9745B5
date: 2014-03-26 23:52:57
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  No. Parents both have congenital pre-disposals & conditions (mother: diabetes; father: heart defect, heart disease) but I do not have theirs. I was diagnosed Hypothyroid in 2008 following a month with limited sleep (I'm a corporate/civil attorney and had a large case-load with a lot of travel & had very little common sense about how lack of sleep could affect me), but am unaware of any family history on either side. I am height-weight proportionate, but not many others in the family are on both sides, so the pre-disposed conditions are checked, but have no surfaced. 


human_id: hu816A0B
date: 2014-04-06 07:22:24
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Based upon my responses to an online screening quiz, I am most likely suffering from an obsessive-compulsive disorder.


human_id: hu5953A9
date: 2014-04-08 18:38:38
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I'm the only one in my family beside my paternal grandmother to have red hair between her 3 children and her 4 grandchildren of which all have come from my father/mother.


human_id: hu8A5FBF
date: 2014-05-02 17:19:51
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Genetic: HH carrier, CF carrier, some SNPS related to ILs.Clinical (rare, but w/multifactorial causes): UC, SNHL


human_id: huEC3ADA
date: 2014-05-02 18:25:35
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I am theonkyhearing person n my family.  My parents, and both siblings are deaf.  My father lost his hearing at two, my mother, brother and sister have been deaf from birth.  My mother and sister have night blindness, low vision, and ataxia, but it is not Retinitis Pigmentosa, and is not Ushers Syndrome.  


human_id: huFFA651
date: 2014-05-04 23:57:37
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Nothing diagnosed, but I suspect collagen or connective tissue irregularities and potentially autism associated genes.


human_id: hu02F2F9
date: 2014-05-17 20:04:31
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Yes, I have a mutation in PMS2, one of the genes associated with Lynch Syndrome.  My family history of colon cancer, and personal history of precancerous colon polyps, suggests that it is a deleterious mutation.


human_id: hu02F2F9
date: 2014-05-18 19:25:55
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I already completed this survey once, but forgot to mention that in addition to having a PMS2 mutation, along with a family history of colon cancer and a personal history of precancerous colon polyps, all of which points to Lynch Syndrome, I am also heterozygous for Fanconi's anemia.


human_id: hu566AA7
date: 2014-06-13 12:00:53
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Homozygous for risk allele for rs1061170(C;C).  Have chronic inflammation from environmental toxins (mycotoxins, etc) known as CIRS resulting in extremely elevated TGF-B1, C4a, and extremely low ADH, VEGF, MSH, and VIP as a result of a specific HLA DR/DQ combo.  Very well documented with thorough blood labs.  


human_id: hu224941
date: 2014-06-17 10:04:44
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  It Mitochondria Myopathy (mtDNA) however it did not present until I was 40 after taking Lipitor which weakened my muscles.  This has been followed by 14 years of declining health, constant pain, and 10 or so operations for tearing of connective tissue due to the muscles inability to perform their tasks as designed.  I also have POTS, and there is a strong possibility that I other issues, and Neurologist at Mass General Hospital are debating a second muscle biopsy (first one in 2009 confirmed the mtDNA disease) they are also considering calcium channel blockers and seem flummoxed by the complexity of my presentation.


human_id: hu9D00EB
date: 2014-06-17 11:37:30
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  None that I know of.. Alarmingly healthy. Never even had any common childhood ailments except German Measles.


human_id: hu4E8403
date: 2014-07-07 12:52:04
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Possibly sending out this questionnaire before and after testing would give a good example of information also.  I was tested for numerous disorders for years prior to finding out what I had. I would like to see how close or correct testing prior to this would be.  Maybe one day this could be used in a better way, making  genetic testing a more streamline approach to finding answers to the more sickly faster or a preventative approach.


human_id: huB8B7C3
date: 2014-08-04 00:33:06
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  My father is heterozygous for E148Q mutation in the MEFV (FMF) gene, but it is unknown if I am a carrier of those specific genes.


human_id: hu5C14F0
date: 2014-08-23 09:57:10
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I have partially webbed toes. When each of the four of us were born and released from the hospital, my father looked at our feet to know that he was bringing his own baby home.I learned from %2223 and me%22 that I am in the top 1% of people carrying the most Neatherthal DNA. My husky grandfather is from Northern Italy.  If you saw me, (and how thin I am) you would laugh about it the way I do.


human_id: huC51695
date: 2014-08-27 14:23:04
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Have been diagnosed by geneticist with connective tissue disorder, probable Ehlers-Danlos. Still awaiting subtyping, which will be available in two weeks.


human_id: huACE510
date: 2014-09-08 23:00:54
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I have Hartnups. This is a recessive metabolic disorder. Treatment  is high protein diet and niacin supplements.


human_id: hu16EC18
date: 2014-09-11 21:37:10
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I have a tendency to bite my nails. My son is 3 years old and does it too. I'm pretty sure this was nature rather than nurture.


human_id: hu3AD9A6
date: 2014-09-13 21:57:01
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  An unknown form of muscular dystrophy, likely related to bethlem myopathy though negative for all markers.


human_id: huFF2969
date: 2014-09-14 16:12:48
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I have three auto-immune conditions which do not appear in any members of my family, to the best of my knowledge.  They areType 1 diabetes, Celiac disease, ulcerative colitis.


human_id: hu70552D
date: 2014-11-02 01:00:16
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  my daughter had her genome coded by 23andme.com and told me on her maternal side it was J2B1a  and I have rhNeg blood type B if that helps


human_id: hu1312FD
date: 2014-11-26 20:33:42
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I was born with a heart defect (a coarchtation of the aorta).  While I was the only person I know of in my family to have had this defect, heart disease is common on both sides of my family.


human_id: hu169AC5
date: 2014-12-01 11:15:15
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  The only thing of note is that I have several unrelated cancers in my family. Paternal Grandfather died of Melanoma, Paternal Uncle died of Colon Cancer and Father died of Head & Neck Cancer. Also if you are looking for a way to collect a sample from me, I am a research nurse and would be happy to sent out a tube of blood to you, just let me know what tube you would like it collected in. 


human_id: hu9E4FA5
date: 2014-12-07 21:50:39
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  possible diagnosis of Ehlers-Danlos, hypermobility / vacsular type (self) ... currently a working diagnosis


human_id: hu4D62E5
date: 2014-12-11 11:38:09
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  My dad is fully racially Italian.  My mom is mixed English, Irish, French, German, Scottish, Welsh, and Native American (in equal parts, but two parts Irish).


human_id: hu163E88
date: 2014-12-31 23:34:23
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  I have Oculocutaneous Albinism type OCA1, Autoimmune Progesterone Dermatitis, Ehlers-Danlos syndrome, Long QT syndrome, Polycystic Ovarian Syndrome, and a congenital septate uterus.


human_id: hu2B76CC
date: 2015-02-01 16:43:54
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Maternal lineage is of Polish descent. (diabetes common among ancestors)Paternal lineage is of Scottish descent.  (prostate cancer common among ancestors)


human_id: huE44F41
date: 2015-02-01 18:29:11
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  1:  Superior Canal Dehiscince syndrome: had a crainiotomy in 2010 to repair the bone that deteriorated on the right side between my brain and inner-ear. I have the same problem on my left side.2: Connective tissue disorder believed to be a form of Ehlers Danlos syndrome.


human_id: huE7271F
date: 2015-02-06 11:37:18
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  Sensory modulation disorderFood Sensitivities (dairy, soy, blueberries, almonds)Emotional Sensitivity


human_id: hu50B3A1
date: 2015-02-14 04:08:25
phenotype_category:
[cell repeats an earlier one in this file: 136 characters]

phenotype:
  759.89 Congenital hemihypertrophy, diagnosed 1/2015 @ University of Arizona Medical CenterAnatomically shorter right leg, pelvic tilt, muscle atrophy of right legFibromyalgia diagnosed 11/2014 @ UAMC


human_id: huED0F40
date: 2012-10-12 00:41:16
phenotype_category: Blood:other
phenotype:
  Undiagnosed/Subclinical  for Pernicious Anemia but show some signs; Folate & Iron Levels have always been good. Father had years of low B12 and Vitamin D3 Deficiencies


human_id: hu60180F
date: 2012-10-25 22:07:19
phenotype_category: Blood:other
phenotype:
  have an intermittent defect that cause severe bruses, was worked up at blood center of wisconsin, I can find results if you want them


human_id: hu7D3329
date: 2014-03-03 19:18:39
phenotype_category: Cancers:other
phenotype:
  Borderline ovarian tumor (had %22suspicious%22 cells and was considered %22pre-cancerous%22 and %22dangerous.%22  Doctors actually did not agree about what borderline means and whether it is or is not a stage of cancer


human_id: huC51695
date: 2014-08-27 14:28:16
phenotype_category: Cancers:other
phenotype:
  Have had precancerous changes to the cervix removed via freezing during colposcopy, probable infection from HPV identified as cause.


human_id: huED0F40
date: 2012-10-11 23:56:41
phenotype_category: Circulatory_System:other
phenotype:
  Myxomatous Degeneration of mitral valves without true prolapse; trace pulmonic insufficiency 09/18/2012 echocardiogram


human_id: hu60AB7C
date: 2013-01-12 21:20:54
phenotype_category: Circulatory_System:other
phenotype:
  My hemoroids were cured with sublingual Annhydrous Betaine 750mg upon awakening or at the onset of symptoms.  This also dropped my pulse 10 beats, and lowered my pressure by 10-20%.


human_id: huA099E6
date: 2013-03-04 10:14:54
phenotype_category: Circulatory_System:other
phenotype:
  father had heart valve replacement at age 72, as medium distance runner I never experienced any blood circulation issues


human_id: hu9745B5
date: 2014-03-27 00:10:05
phenotype_category: Circulatory_System:other
phenotype:
  Father's history includes, but not diagnosed in me: IHSS, congenital heart murmur, arrythmia, hemorrhoids, DVT, TIAs, Atrial Fibrulation, Pernicious Anemia, congestive heart failure, 


human_id: huE34B72
date: 2014-12-11 12:40:57
phenotype_category: Circulatory_System:other
phenotype:
  I experience symptoms similar to Reynard's phenomenon; color changes in hands and feet, cold intolerance in hands and feet, and intermittent burning sensation in feet at night. 


human_id: hu02A209
date: 2013-06-27 20:03:02
phenotype_category: Congenital_Traits_and_Anomalies:other
phenotype:
  Congenital heart defect is leaky / prolapsed mitral valve, hereditary on father's side; shared by my surviving half-brother, who had corrective surgery at birth (his twin had the same condition but died shortly after birth)


human_id: hu28391C
date: 2014-02-25 03:32:31
phenotype_category: Congenital_Traits_and_Anomalies:other
phenotype:
  As a child, I had a single tooth come in the top or roof of my mouth. It was removed and I've had no known complications from it.


human_id: hu3A1B15
date: 2014-04-12 10:58:19
phenotype_category: Congenital_Traits_and_Anomalies:other
phenotype:
  Had an %22innocent murmur%22 as a child. But assume that doesn't count as %22Congenital heart defect,%22 so didn't check that box.


human_id: hu0C9503
date: 2014-07-24 01:57:12
phenotype_category: Congenital_Traits_and_Anomalies:other
phenotype:
  my father's side has a genetic quirk of being born without your incisors. My father's mother was born without incisors, my father and all his siblings were born without incisors, and their first born offpspring was born without incisors (incidentally all the first borns were of the opposite sex from the parent which passed on the trait)


human_id: hu5DE8CD
date: 2012-10-13 12:30:43
phenotype_category: Digestive_System:other
phenotype:
  The roots on most of my baby teeth did not dissolve, and they were extracted whole to make room for new teeth around the age of 8.


human_id: huB220C0
date: 2013-01-30 14:27:18
phenotype_category: Digestive_System:other
phenotype:
  microscopic colitis, autoimmune disease, Hasimoto's, Sjogrens, Epilepsy, allergy (anaphylactic food allergies also)


human_id: huEAE6C8
date: 2013-04-26 17:12:11
phenotype_category: Digestive_System:other
phenotype:
  Fibromyalgia associated GI problems, as a teen had a lot of acid reflux, definitely no IBD- just had a colonoscopy


human_id: huBB058E
date: 2014-04-25 13:36:27
phenotype_category: Digestive_System:other
phenotype:
  Starting Nov2013 changed from constipation all my life to having soft stool the most recent past 6 months.


human_id: hu998A3D
date: 2014-08-08 18:32:58
phenotype_category: Digestive_System:other
phenotype:
  I was told several times I had symptoms of Crohn's, particularly since I had a perforated large intestine at 21 years of age. Small intestine was resectioned at 37.


human_id: hu462369
date: 2015-03-09 12:34:34
phenotype_category: Digestive_System:other
phenotype:
  Very strong stomach :) Thrown up only a couple of times in my life; would be good to study that trait!


human_id: huED0F40
date: 2012-10-12 00:23:35
phenotype_category: Endocrine_Metabolic_Nutritional_and_Immunity:other
phenotype:
  Low serum HDL 25-37 w/ Rx  Niaspan treatment;  Vitamin D3 Deficiency (25 or less readings during summer, w / a daily 2000 iU supplement )


human_id: hu8B6758
date: 2012-10-14 20:16:05
phenotype_category: Endocrine_Metabolic_Nutritional_and_Immunity:other
phenotype:
  Tested positive for thyroid antibodies although currently not testing in the normal range for hypothyroidism


human_id: huB10361
date: 2013-01-09 17:26:34
phenotype_category: Endocrine_Metabolic_Nutritional_and_Immunity:other
phenotype:
  lupus, low IgM (25) with abnormal response to vaccine titers, low IgG subclass 3, low C3-C4, metabolic acidosis, high LDL, homocysteine, elevated ACE at times, sometimes pos. ANA  


human_id: hu04DF3C
date: 2013-01-12 18:22:22
phenotype_category: Endocrine_Metabolic_Nutritional_and_Immunity:other
phenotype:
  sensitive to milk - produces mucous and sore throat at times. much less sensitive to yogurt and many cheeses


human_id: huE8E4FC
date: 2014-09-12 14:21:37
phenotype_category: Endocrine_Metabolic_Nutritional_and_Immunity:other
phenotype:
  I carry a copy of  the relatively rare SNP LPL N291S (rs268) which is associated with elevated triglycerides and metabolic syndrome. This non-synonymous mutation inactivates lipoprotein lipase.


human_id: hu4DB380
date: 2015-02-18 18:36:02
phenotype_category: Endocrine_Metabolic_Nutritional_and_Immunity:other
phenotype:
  Diabetes Insipidus, Secondary Hypogonadism, Chronic Fatiuge Syndrome, Multiple Chemical Sensitivities


human_id: huA099E6
date: 2013-03-04 10:18:03
phenotype_category: Genitourinary_Systems:other
phenotype:
  I had vasectomy done at age 24, sperms were normal at that time, no problems in any of these areas in my family


human_id: huBB058E
date: 2014-04-25 13:38:29
phenotype_category: Genitourinary_Systems:other
phenotype:
  Not diagnosed, but I suspect I've had kidney stones due to the painful experience passing them in urine.  My father has had many kidney stones after he turned 50 years old. 


human_id: hu4DE348
date: 2012-11-03 01:25:59
phenotype_category: Musculoskeletal_System_and_Connective_Tissue:other
phenotype:
  recent ANA result 1:2560 speckled; awaiting further tests to determine type of connective-tissue disorder


human_id: hu5BD76A
date: 2012-12-10 18:32:12
phenotype_category: Musculoskeletal_System_and_Connective_Tissue:other
phenotype:
  I quit baseball because throwing caused pain in my throwing elbow in highschool, treated with aleive which helped.


human_id: huB10361
date: 2013-01-09 17:38:24
phenotype_category: Musculoskeletal_System_and_Connective_Tissue:other
phenotype:
  endplate sclerosis, bulge osteophyte complex, cranial instability/cervical hypermobility, stenosis, spondylosis, reversal of cervical lordosis, degenerative disc disease, multiple nerve root diverticula bilaterally throughout cervical, thoracic, and lumbar spine


human_id: hu60AB7C
date: 2013-01-12 21:28:31
phenotype_category: Musculoskeletal_System_and_Connective_Tissue:other
phenotype:
  There are a few areas in my back where the vertibrae have thinned (arthritis?).  MRIs and X-Rays are a part of my profile.  During sleep I ruptured two vertibral disks in my lumbar spine.


human_id: huBB058E
date: 2014-04-25 13:41:42
phenotype_category: Musculoskeletal_System_and_Connective_Tissue:other
phenotype:
  Carpal tunnel syndrome which I had a surgery on the inside of my right wrist to remove the %22bump%22. My wrist is now fine, and I can play tennis.  The original carpal tunnel syndrome injury was the direct result of a very intense badminton game. 


human_id: hu726FB4
date: 2014-09-11 20:55:04
phenotype_category: Musculoskeletal_System_and_Connective_Tissue:other
phenotype:
  right and left anterior cruciate ligament tear,  bilaterial meniscual tear, osteochondral defect right ankle


human_id: huA5B645
date: 2012-10-19 13:15:18
phenotype_category: Nervous_System:other
phenotype:
  Aura without migrane. The symptoms are the same as the aura in %22Migrane with aura%22 but I never get the migrane.


human_id: huB10361
date: 2013-01-09 13:34:02
phenotype_category: Nervous_System:other
phenotype:
  possible CIDP or other demyelinating disease, (CSF protein 380), history of positive Beta 2 Transferrin,   multiple nerve root diverticula throughout spine, cervical issues (osteophyte/endplate sclerosis, reversal of cervical lordosis, neuropathy, ataxia, parasthesias, double vision, tinnitus, hearing loss, neurogenic bladder, pain in spine


human_id: huA55602
date: 2013-03-13 17:20:46
phenotype_category: Nervous_System:other
phenotype:
  A total of four migraines with aura in my life after a car accident, then a total of three auras without headache.


human_id: hu2BA3AC
date: 2013-07-21 00:07:56
phenotype_category: Nervous_System:other
phenotype:
  hypnic jerk, sound/head motion-induced aura-like visual field disturbance (without epilepsy or associated migraine)


human_id: huC62047
date: 2013-12-23 21:12:41
phenotype_category: Nervous_System:other
phenotype:
  When I was young I used to have Recurrent sleep paralysis but was not diagnosed with this and have not had it in years


human_id: huCCF18D
date: 2014-03-02 11:38:28
phenotype_category: Nervous_System:other
phenotype:
  I carry a rare genetic mutation on the prion protein gene (PRNP) that is associated with familial prion disease.


human_id: huED0F40
date: 2014-03-02 13:41:34
phenotype_category: Nervous_System:other
phenotype:
  parathesia (pins & needles) of left forearm and hand, suspect as part of neurogenic thoracic outlet syndrome or cervical instability


human_id: hu5A625E
date: 2014-09-11 18:13:21
phenotype_category: Nervous_System:other
phenotype:
  Chronic Depression (medication non-effective), Chronic Pain Syndrome, Chronic Fatigue Syndrome, Asperger's Syndrome


human_id: huE34B72
date: 2014-12-11 12:35:00
phenotype_category: Nervous_System:other
phenotype:
  I have experienced periodic episodes of sleep paralysis. I have not been officially diagnosed with Narcolepsy, but multiple doctors has suspected it. My father has been diagnosed with Narcolepsy.


human_id: hu826751
date: 2014-12-19 20:36:55
phenotype_category: Nervous_System:other
phenotype:
  sleep-paralysis was non-diagnosed but happened a few times when I was younger.  I suspected caffeine intake might have been an instigating factorex


human_id: huED0F40
date: 2013-01-09 23:35:13
phenotype_category: Respiratory_System:other
phenotype:
  Since 2005 an asthma-like reaction to spring tree pollen, requiring steroid inhaler for month of March to 1st or 2nd week of April, then remits


human_id: hu02A209
date: 2013-06-27 19:55:16
phenotype_category: Respiratory_System:other
phenotype:
  Breathing problems have resolved after daily ingestion of raw garlic cloves (3). Dragon breath but no coughing!


human_id: hu9745B5
date: 2014-03-27 00:12:09
phenotype_category: Respiratory_System:other
phenotype:
  father dx with nasal polyp resulting in annureysm, complicated by blood thinner medications for IhSS


human_id: hu53821E
date: 2014-09-29 15:55:48
phenotype_category: Respiratory_System:other
phenotype:
  Coccidiodomycosis - Fungal Infection requiring removal of lower lobe in right lung due to repeated bouts of pneumonia


human_id: hu60AB7C
date: 2013-01-12 21:26:21
phenotype_category: Skin_and_Subcutaneous_Tissue:other
phenotype:
  My dandruff/itchy scalp stopped after adding anhydrous Betaine 750mg sublingual upon awakening every day minimum.


human_id: huF080F9
date: 2014-06-13 15:57:09
phenotype_category: Skin_and_Subcutaneous_Tissue:other
phenotype:
  For my answers above, if by %22diagnosed%22, you mean %22have had%22 --- don't really know of anyone going to a doctor to be %22diagnosed%22 with dandruff!


human_id: hu369F3B
date: 2014-08-30 20:52:39
phenotype_category: Skin_and_Subcutaneous_Tissue:other
phenotype:
  I have dandruff but haven't been diagnosed by a physician. I have had some hair loss over the years but am not bald


human_id: hu26B551
date: 2012-10-12 00:03:24
phenotype_category: Vision_and_hearing:other
phenotype:
  I began losing hearing in my late teens and most of my family members had hearing loss by middle age, with moderate to severe hearing loss in old age.


human_id: huA5B645
date: 2012-10-19 13:12:23
phenotype_category: Vision_and_hearing:other
phenotype:
  I experience aural headaches (scintillations lasting about 20-30 minutes without any pain - these are sometimes precursors to migrane headaches in other people, but I have never had a migrane.)


human_id: hu868880
date: 2012-11-11 22:04:05
phenotype_category: Vision_and_hearing:other
phenotype:
  Have also been diagnosed with vestibular disorder similar to Meniere but with perfect hearing (also no hearing loss with tinnitus)


human_id: huD09050
date: 2012-12-13 15:44:54
phenotype_category: Vision_and_hearing:other
phenotype:
  Early cataract (not age-related, not traumatic, probably genetic), torn retina, severe motion sickness susceptibility, labyrinthitis


human_id: huA099E6
date: 2013-03-04 10:13:38
phenotype_category: Vision_and_hearing:other
phenotype:
  strong myopia (-5.6 diopters, corrected by radial keratotomy some 30 years ago, high frequency hearing loss with low frequency hearing loss in left ear due to explosions near left ear (gun in a tank)


human_id: hu6D1115
date: 2013-04-28 22:57:41
phenotype_category: Vision_and_hearing:other
phenotype:
  I wear glasses for driving and reading, but I'm not sure what the diagnosis is. The condition is age related; I didn't wear glasses when I was young.


human_id: hu35020C
date: 2013-11-15 22:40:48
phenotype_category: Vision_and_hearing:other
phenotype:
  strabismus in both eyes, corrected when 5.  cataracts removed last year.  always worn corrective lenses


human_id: hu3DB8ED
date: 2014-08-29 22:50:16
phenotype_category: Vision_and_hearing:other
phenotype:
  I doctor said I had macular degeneration but it's not age related.   I was 24 years old at the time.


# test_results

human_id: hu7123C1
name: Comprehensive Metabolic Panel
date: 2014-05-01
result:
  Na 142, K 4.7, Cl 102, CO2 30, BUN 14, Cr 1.0,  eGFR &gt;60, Glc 109*, Ca 10.5*, TP 7.3, Alb 4.7, TB 1.3*, AP 51, AST 32, ALT 31, AG 10, BUN/Cr 14, AST/ALT 1.0


human_id: hu7123C1
name: Comprehensive Metabolic Panel
date: 2013-12-05
result:
  Na 140, K 4.6, Cl 102, CO2 28, Glc 106*, BUN 21, Cr 1.1, Ca 9.8, TP 7.0, Alb 4.4, TB 0.4, AP 40, AST 29, ALT 29, AG 10, S/CR 19, A/AR 1.0, eGFR &gt;60


human_id: hu7123C1
name: Comprehensive Metabolic Panel
date: 2013-01-17
result:
  Na 141, K 4.6, Cl 100, CO2 30, Glc 113*, BUN 18, Cr 1.0, Ca 9.8, TP 7.1, Alb 4.5, TB 0.5, AP 41, AST 19, ALT 16, AG 11, S/CR 18, A/AR 1.2, eGFR &gt;60


human_id: hu7123C1
name: Comprehensive Metabolic Panel
date: 2012-12-27
result:
  Na 144, K 4.5, Cl 100, CO2 30, Glc 105*, BUN 13, Cr 1.1, Ca 10.8*, TP 7.5, Alb 5.1, TB 1.5, AP 45, AST 24, ALT 14, AG 14, S/CR 12, A/AR 1.7, eGFR &gt;60


human_id: hu7123C1
name: Comprehensive Metabolic Panel
date: 2010-11-18
result:
  Na 141, K 4.6, Cl 103, BUN 16, CO2 28, Glc 101, Cr 0.9, Ca 10.0, TP 7.4, Alb 4.6, TB 1.2, ALT 18, AST 31, AP 43, AG 10, S/CR 18, A/AR 1.7, eGFR &gt;60


human_id: hu7123C1
name: Comprehensive Metabolic Panel
date: 2010-05-13
result:
  Na 142, K 4.4, Cl 103, BUN 11, CO2 28, Glc 107, Cr 1.0, Ca 09.9, TP 7.2, Alb 4.4, TB 1.2, ALT 16, AST 23, AP 41, AG 15, S/CR 11, A/AR 1.4, eGFR &gt;60


human_id: hu7123C1
name: Comprehensive Metabolic Panel
date: 2009-11-19
result:
  Na 135, K 4.1, Cl 098, BUN 15, CO2 26, Glc 105, Cr 1.0, Ca 09.9, TP 7.6, Alb 4.7, TB 1.4, ALT 18, AST 27, AP 39, AG 15, S/CR 15, A/AR 1.5, eGFR &gt;60


human_id: hu7123C1
name: Comprehensive Metabolic Panel
date: 2009-07-09
result:
  Na 141, K 4.2, Cl 102, BUN 15, CO2 27, Glc 110, Cr 1.0, Ca 10.2, TP 7.4, Alb 4.6, TB 1.0, ALT 19, AST 23, AP 44, AG 16, S/CR 15, A/AR 1.2, eGFR &gt;60


human_id: hu7123C1
name: Comprehensive Metabolic Panel
date: 2008-09-04
result:
  Na 141, K 4.4, Cl 103, BUN 15, CO2 27, Glc 104, Cr 0.9, Ca 10.3, TP 7.2, Alb 4.2, TB 0.9, ALT 18, AST 21  AP 46, AG 15, S/CR 17, A/AR 1.2, eGFR &gt;60


human_id: hu7123C1
name: Comprehensive Metabolic Panel
date: 2007-06-15
result:
  Na 135, K 3.9, Cl 095, BUN 16, CO2 27, Glc 087, Cr 1.1, Ca 10.2, TP 7.7, Alb 4.6, TB 1.1, ALT 15, AST 23, AP 46, AG 17, S/CR 15, A/AR 1.5, eGFR &gt;60


human_id: hu7123C1
name: Comprehensive Metabolic Panel
date: 2006-11-13
result:
  Na 139, K 3.9, Cl 101, BUN 14, CO2 26, Glc 099, Cr 1.1, Ca 10.1, TP 7.6, Alb 4.4, TB 0.8, ALT 13, AST 23, AP 43, AG 16, S/CR 13, A/AR 1.8, eGFR &gt;60


human_id: hu7123C1
name: Urinalysis
date: 2006-08-25
result:
  SG 1.026, APP Clear, COL Yellow, GLC Neg, BIL Neg, KET Trace, BLD Neg, pH 6.0, PRO Neg, LE Neg, NIT Neg, MUC Occ, RBC 1-8, WBC 1-5, BAC Rare


human_id: hu7123C1
name: Comprehensive Metabolic Panel
date: 2006-08-25
result:
  Na 143, K 4.0, Cl 105, BUN 13, CO2 30, Glc 092, Cr 1.0, Ca 09.9, TP 7.6, Alb 4.3, TB 0.5, ALT 12, AST 21, AP 46, AG 12, S/CR 13, A/AR 1.8, eGFR &gt;60


human_id: hu7123C1
name: Urinalysis
date: 2004-10-14
result:
  SG 1.008, APP Clear, COL Yellow, GLC Neg, BIL Neg, KET Neg, BLD Neg, pH 7.0, PRO Neg, LE Neg, NIT Neg, MUC None, RBC None, WBC None, BAC None


human_id: hu7123C1
name: Comprehensive Metabolic Panel
date: 2004-10-14
result:
  Na 138, K 4.3, Cl 101, CO2 31, Glc 90, BUN 16, Cr 0.9, Ca 10.0, TP 7.7, Alb 4.5, TB 1.0, AP 51, AST 18, ALT 16, AG 10, S/CR 18


human_id: hu925B56
name: H1N1 Vaccination Indications
date: 2009-12-16
result:
  Age 25 to 64 years with health condition associated with higher risk for influenza-related complications


human_id: hu2D21C5
name: Stool Culture
date: 2015-01-26
result:
  Culture negative for enteric pathogens: Salmonella, Shigella, Campylobacter, Yersinia, Aeromonas, Plesiomonas, E. coli 0157,Vibrio(Jun-Sep)


human_id: hu2D21C5
name: Ova And Parasites
date: 2015-01-26
result:
  No helminth eggs, larvae or adult forms by formalin concentration.No protozoan cysts or trophozoites by trichrome stain (PVA).


human_id: hu2D21C5
name: Surgical Pathology R
date: 2015-01-26
result:
  Â Â Â Â  JOHNS HOPKINSÂ Â Â Â Patient: KELLY,WILLIAMÂ Â Â Â Â Â Â Â Â Â Path# S15-5341Â Â Â Â Â Â  REFERENCEÂ Â Â Â Â Â LABORATORIESÂ Â Â Â JHH MR # 3-473-23-97Â Â Â Â Â Â Accessioned 01/26/2015Â Â  Surgical Pathology Birthdate: 08/28/1986Â Â (Age 28) Loc: WMSURÂ Â Â Â Consult ServiceÂ Â Â Â 401 N. Broadwa


human_id: hu2D21C5
name: NAR
date: 2011-03-28
result:
  Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â JOHNS HOPKINS BAYVIEW MEDICAL CENTERÂ Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â IMAGING DEPARTMENTNAME:Â Â Â Â Â Â Â Â  KELLY, WILLIAMPatient name: KELLY,WILLIAMÂ Â  Unit #:BV01656339Â Â DOB: 08/28/1986Â Â Â Â Â Â Account #:MC623807435Â Â Date of Exam:03/26/11Â Â Â Â 032


