Precision Medicine and the Reinvention of Human Disease (Book Index)

In January, 2018, Academic Press published my book Precision Medicine and the Reinvention of Human Disease. This book has an excellent "look inside" at its Google book site, which includes the Table of Contents. In addition, I thought it might be helpful to see the topics listed in the Book's index. Note that page numbers followed by f indicate figures, t indicate tables, and ge indicate glossary terms.

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A
Abandonware, 270, 310ge
Ab initio, 34, 48ge, 108ge
ABL (abelson leukemia) gene, 28, 58ge, 95–97
Absidia corymbifera, 218
Acanthameoba, 213
Acanthosis nigricans, 144ge
Achondroplasia, 74, 143ge, 354ge
Acne, 54ge, 198, 220ge
Acquired autoantibody disease, 133
Acquired Parkinsonism, 105ge, 128, 281
Acrodermatisis verruciformis, 26–27
Acrokeratosis verruciformis of Hopf, 23–24
Actinic keratoses, 33
Actinobacillus actinomycetemcomitans, 217
Actinomyces pyogenes, 217
Activated oncogene, 28, 34–35, 57ge, 222ge
Acute anterior uveitis, 208
Acute flaccid myelitis, 204–205
Acutely transforming retroviruses, 46–47
Acute myelogenous/myeloid leukemia, 33–34, 97, 139,
156–157
Adaptive immunity evolved, 192
Adenosine deaminase, 46, 72, 80
Adrenocortical carcinoma, 73, 103ge
Adult T-cell leukemia, 339
Adverse effect, 275, 352–353
Aflatoxin, 30, 182
  and hepatocellular carcinoma, 30, 182
Age adjusted incidence, 338, 354ge
Age related macular degeneration, 105ge, 138, 199
Aggregate disease, 80, 98ge
Aging, 35–36, 70–71, 125–126, 234, 354
Agouti, 86–87
AIRE gene, 198
Albinism, 77–78, 81–82, 84
Alcohol, 128, 156, 159, 287
  abuse, 128, 158
  related neurodevelopmental disorders, 159
Allele, 70, 98ge, 158–159, 332–333, 347–348
Allelic heterogeneity, 71, 98ge
Alpha1 antitrypsin deficiency, 82
Alpha particles, 166–167
Alpha-spectrin gene, 70
Alpha thalassemia, 83, 92
Alstrom syndrome, 122–123
Alternative RNA, 85, 98ge
Alzheimer disease, 6–7, 70, 139, 233–234, 246, 327–328, 353
Amateur scientists, 329–330
Aminoglycoside, 128
  induced hearing loss, 77
Amoebic encephalitides, 213
Amphotericin B, 128, 213
Amyloidosis, 83, 98ge, 200
Amyloid plaques, 126
Amyotrophic lateral sclerosis, 77, 282
Anaerobic conditions, 108ge
Anal squamous carcinoma, 45
Anaphylactic shock, 133
Anaphylaxis, 133
Anaplasma phagocytophilum, 217
Anatomic abnormalities, 6–7, 166–167
Ancestral class, 184, 231
Aneuploid, 89, 89f
Aneuploid cells, 49ge
Aneuploidy, 47, 89f
Angelman syndrome, 75, 86
Angiofollicular lymph node hyperplasia, 50ge
Angiogenesis, 120, 138
Angioimmunoblastic lymphadenopathy, 55ge
Angiopoietin, 139
Angiotensin converting enzyme inhibitors, 4
Animal model, 31, 33, 88, 170, 279, 351–354
Ankylosing spondylitis, 208
Anlagen, 243
Annotation, 264, 271, 308, 341
Anonymizing private and confidential medical data, 310
Anoxia, 91–92
Anterior segment mesenchymal dysgenesis, 53ge
Anthers, 90
Antibasement membrane antigen, 132
Antibiotics, 190, 195–196, 210, 213
Antibody/antibodies, 21–22, 73, 126, 130–134, 139, 192,
197, 209, 299, 348–350
Anticipation, 86
Anucleate ovum, 254ge
Anucleate red blood cell, 91
Aortic dissection, 142ge
Apicomplexans, 184, 186
Aplastic anemia, 24–25, 95–96, 166
Apolipoprotein E (APOE) gene, 70
Apoptosis, 48–61, 73, 133–134, 197–200
Archaeans, 191
Archaeplastida, 186, 191–192
Aromatase inhibitors, 136–137
Arrhythmias, 135
Arrhythmogenic right ventricular cardiomyopathy, 331
Arrhythmogenic right ventricular dysplasia, 70
Artemis gene, 72
Arteriosclerosis, 171
Arthritis, 131–132, 134, 139, 197–198, 201, 208, 346,
349–350
Arthropod vectors, 202
Arylsulfatase, 121–122
  deficiency, 121–122
Asbestos, 26–27, 29, 167–169, 279–280
Ash leaf spots, 102ge
Aspergillus flavus, 182
Aspergillus fumigatus, 214
Aspirin, 124, 135
Asplenia/polysplenia, 72
Ataxia, 73, 83, 91, 128, 159
telangiectasia, 91
Atherosclerosis, 158, 171, 199
Atrial myxomas, 95–96
Atrioventricular conduction defects, 53ge
ATRX gene, 92
Atypical hemolytic uremic syndrome, 199
Atypical intraductal hyperplasia, 32
Authentication, 273
Autism, 7, 138
Autoantibodies, 133–135, 137–138
Autoantibody disease, 130–134, 197
Autocoders, 283
Autocoding, 277, 282–283
Autocorrelation, 267
Autoimmune disease, 21–22, 131–134, 193, 197–198, 251
Autoimmune disorder characterized, 131
Autoimmune hemolytic anemia, 144ge
Autoimmune lymphoproliferative syndrome (ALPS),
133–134, 197–198
Autoimmune polyendocrinopathy-candidiasisectodermal
dystrophy, 198
Autoimmune thyroiditis, 201
Autoimmune variant, 73, 123–124
Autoinflammatory diseases, 197, 235
Autonomous growth, 46
Autophagy, 83
Autopsies, 81
Autopsy report, 36, 277
Autosomal dominant hearing loss, 104ge, 106ge
Autosomal dominant polycystic kidney disease, 122–123
Autumn crocus (Colchicum autumnale), 200
Axonal neuropathy, 70
Azacytidine, 87

B
Bacillary angiomatosis, 202, 210–211
Bacille Calmette-Guerin (BCG), 22–23
Bacillus
  B. globigii, 212
  B. hoagii, 218
Bacteremia, 202, 213
Bacteroides
  B. fragilis, 214
  B. vulgatus, 214
Bannayan-Riley-Ruvalcaba syndrome, 156, 173ge
Bardet-Biedl syndrome, 72, 122–123, 157
Barr body, 85–86
Bartonella
  B. henhenselae, 210–211
  B. quintana, 202, 217
Bartonella species, 202–203
Bartter syndrome, 136f
Basal body, 72
Basal cell carcinoma, 158, 170
Base pairs (bp), 84, 86
Bastocystis, 213
B cell, 161, 192, 339, 346, 349–350  
  acute lymphoblastic leukemia, 160–161
  lymphomas, 339, 349–350
BCR-ABL, 56ge
Bcr/abl fusion gene, 28, 95–97, 251
BCR (breakpoint cluster region) gene, 58ge
Beckwith-Wiedemann syndrome, 75, 86, 106ge
Behcet disease, 99ge, 206
Benign tumor, 26–27, 50ge, 176ge
Benzene, 166, 169
Bernard-Soulier syndrome, 59ge, 135
Bevacizumab, 138, 142ge
Bilateral acoustic schwannomas, 56ge
Bilateral progressive sensorineural hearing loss, 135
Bilateral retinoblastomas, 318ge
Biliary atresia, 122–123
Bimodal age distribution, 52ge, 104ge, 292–293
Biomarker development, 252
Birth defects, 159, 335
Bisphossy jaw, 168–169
Bite infections, 213
BK virus, 339
Bladder catheters, 214
Bladder tumor, 95
Blast cells, 104ge
Blastocystis, 213
Blast transformation, 104ge
Blastula, 3, 51ge, 85, 235, 255ge, 335–336, 356ge
Blau syndrome, 54ge, 199, 220ge
Blended class, 205–206, 218ge, 246, 252ge, 258ge
Blepharspasm, 350
Blistering disease, 123–124, 132
Blood cell lineages, 49ge
Blood cells, 28, 82, 91, 131, 133–134, 137, 139–140,
164–166, 172, 197–198, 281, 295, 328
Blood clotting cascade, 164
Bloom syndrome, 50ge
Boder sedgwick syndrome, 99ge
Bone marrow failure, 24–25
Bone marrow necrosis, 30
Bone marrow stem cells, 49ge
Bone marrow toxins, 166
Bootstrapping, 232, 287–288
Botox, 138, 171, 350
Bovine spongiform encephalitis, 219ge
Bovine spongiform encephalopathy, 144ge
BRAF, 290, 347–348
  mutation, 347–348
  V600E, 94–95
Brain tubers, 354
Branchiootorenal syndrome, 53ge
BRCA gene, 28, 119, 126
Breakpoint cluster region (BCR) gene, 58ge
Breast cancer, 32, 32f, 73–74, 95, 119, 126, 136–137, 250,
252, 299, 338, 347–348, 352
Bronchiectasis, 123, 289
Bronchioloalveolar carcinoma, 173ge
Bronchoalveolar carcinoma, 173ge
Bronchogenic carcinoma, 169
Bronchogenic lung cancer, 159, 167
Brucellosis, 200
Bruck syndrome, 142ge
Brugada syndrome, 142ge
Brugia malayi, 223ge
Buerger disease, 159
Burgess shale reserves provided, 343
Burkitt lymphoma, 45, 161, 251, 339
Bypassing trials, 349

C
Caffey disease (infantile cortical hyperostosis), 142ge
CAG repeat, 71–72, 108ge, 300
Campylobacter pylori, 217
Cancer
  chemotherapy, 105ge, 157
  death rate, 161, 245, 345
  deaths, 31, 161, 167, 182, 245, 338, 340, 345
  phenotype, 9ge, 46–47, 49ge
  progression, 87, 99ge
Cancer-causing syndrome, 50ge
Candidate biomarkers, 252
Candidate causal mutations, 94
Candidate gene, 79, 99ge, 129, 303, 331
  approach, 99ge
Carbapenem resistant Klebsiella pneumoniae,
38–40
Carcinogen, 29–31, 35, 50ge, 167, 169, 175ge, 182,
243, 347
Carcinogenesis, 9ge, 26–27, 30–31, 41, 46–47, 49–50ge,
54ge, 58ge, 73, 88–89, 167, 175ge, 338, 347
Carcinoid syndrome, 142ge, 144ge
Cardiac conduction, 164
Cardiac rhabdomyoma, 102ge
Cardiofaciocutaneous syndrome, 347–348
Cardiomyopathy, 101ge, 104ge, 128, 137, 209, 247–248,
331
Cargo disorder, 175ge
Cargo receptor complex, 100ge
Cargo vesicle, 100ge
Carney complex, 95–96, 99ge, 103ge
Carney syndrome, 50ge, 99ge
Carotid body chemoreceptor cells, 81
Carriers, 28, 32–33, 50ge, 78, 96–97, 107ge, 182, 194–195,
219ge, 332–336, 339
Case studies, 99ge
Castleman disease, 45, 50ge, 331
Categorical data, 291
Catheter, 214, 219ge
Cattle, 332–333
Causality, 6, 17–61, 356–357ge
  paradoxes, 17–25
Cause of death error, 311ge
CCR5 coreceptor, 172
Cd1a, 139
CD20 inhibitors, 346, 349–350
Ceased and liver tumor, 47
Celiac disease, 208
Cell death, 3, 48, 49ge, 61ge, 80, 91, 99ge, 133–134, 197–198,
254ge
Cell death rates, 254ge
Cell division, 3, 21, 56–58ge, 60–61ge, 90, 190–191
Cell free media, 203
Cell junctions, 193
Cell suicide, 48, 49ge
Cell type, 9ge, 19–20, 26, 30–31, 35, 42–43, 48, 49ge,
51–52ge, 56–58ge, 60ge, 71, 80, 84–85, 89–90, 92,
101ge, 107–108ge, 120, 129–130, 175ge, 219ge, 222ge,
278, 281
Cellular differentiation, 89, 100–101ge
Cellular hypoxia, 81
Cellular pathway, 4, 120, 128–130, 164, 169–170, 175ge,
199
Cellulitis, 29, 213
Centers for Disease Control and Prevention (CDC),
38–40, 306–307
Cerebellar ataxia, 99ge, 128
Cerebellum, 102–103ge, 156, 159, 174ge
Cerebrospinal fluid, 79
Cervical cancer, 32, 338–340, 358ge
Chagas disease, 187–188, 194–195, 219ge, 339
Channel defects, 121
Channel disorders, 142ge
Channelopathies, 9–10ge, 124, 142ge
Charcot-Marie-Tooth disease, 51–52ge, 70, 175ge, 331
Chediak-Higashi syndrome, 10ge, 199
Chemodectomas, 81
Chemokine, 76, 100ge, 172
Chemoreceptor cell hyperplasia, 81
Chernobyl, 169
Cherubism, 199
Chicago heat wave, 295–296
Chikungunya virus, 219ge, 223ge
Childhood cancer, 27, 49ge, 161, 343, 345
Childhood thyroid cancer, 169
Chimeric Antigen Receptor for T cells (CAR-T) therapy,
161–162
Chimeric receptor, 161–162
Chimney sweeps, 166
Chimpanzee’s genome, 75–76
Chitin, 217, 242
Chlamydia trachomatis, 208
Chloramphenicol, 166
Chloroplasts, 191–192, 219ge
Cholangiocarcinoma, 30, 60ge, 166–167, 339
Chorioadenoma destruens, 255ge
Choriocarcinoma, 108ge, 161, 220ge, 251, 254–255ge,
257–258ge
Chromatin remodeling complex, 85, 89
Chromosomal aberration, 156–157
Chromosomal anomalies, 94, 335
Chromosomal instability, 49ge
Chronic myelocytic leukemia, 58ge, 161
Chronic myelomonocytic leukemia, 56ge, 104ge
Chronic obstructive pulmonary disease (COPD), 98ge,
158–159, 246, 253ge
Chronic recurrent multifocal osteomyelitis/synovitis,
198
Chryseobacterium meningosepticum, 217
Churg-Strauss syndrome, 206
Chytrids, 241–242
Cigarette smoking, 156, 173ge
Cigarette use, 158
Ciliated epithelia, 9ge
Ciliopathies, 9ge, 122–123, 124f
Circulating proteases, 82
Cirrhosis, 58ge, 82–83, 100ge, 126, 128–130, 158–159,
164–165t, 197
Cis acting, 100ge, 108ge
CJD prion, 144ge
C-KIT, 56ge, 103ge, 140
Clade, 253ge
Cladistics, 253ge, 255ge
Class Apicomplexa, 184
Class Archaeplastida, 191–192
Class assignment, 187, 205, 218ge, 221–222ge, 243–244,
252–253ge, 311ge
Class blending, 218ge, 244–247, 252ge
Class Crianata, 219ge
Classification, 5, 10ge, 59–60ge, 93–109, 183–184, 185f,
186–187, 206, 229–232, 239–244, 253ge, 269, 311ge,
341
Classifier algorithms, 243–244, 253ge
Class Mimiviridae, 221ge
Class properties, 184, 189, 231, 234–235, 256ge
Clear cell carcinoma, 106ge
Clinical trial, 5, 8ge, 136–137, 162, 239, 244, 295, 343–350
Clinorchis sinensis, 60ge
Clonal disorder, 105ge
Clonal expansion, 31, 56ge, 102ge, 105ge, 107ge, 134,
248–249
Cluster analysis, 253ge
Clustered Regularly Interspaced Short Palindromic
  Repeats (CRISPR) technology, 335–336
Coagulopathies, 235
Coding
  mutations, 99ge, 119, 126, 137, 140, 158–159, 281
  regions, 158–159
Codon, 56ge, 106ge, 287–288, 311ge
Coelomic, 237, 243
Colchicine, 200
Collagen disorder, 142ge
Collagenopathy, 128, 142ge, 164
Combined DNA Index System (CODIS), 265
Commensal organism, 214
Common ancestor, 102ge, 105ge, 187, 221–222ge
Comparing genome sequences, 265
Complement disorders, 199
Complement regulatory diseases, 198
Completeness, 230, 272, 276
Complex disease, 54ge, 58ge, 173ge, 201, 220ge, 352
Complexity barrier, 299–300
Conduction disorders, 164
Congenital anomaly, 51ge, 94, 355ge
Congenital disorder, 24–25, 51ge, 58ge, 164, 173ge, 175ge
Congenital dyserythropoietic anemia, 254ge
Congenital heart defects, 122–123
Congenital hyperinsulinism, 142ge
Congenital tumor, 155–156
Conserved gene variants, 157–158
Contig disease, 355ge
Contiguous gene deletion syndrome, 355ge
Control population, 298, 358ge
Control samples, 174ge
Control subjects, 99ge, 281
Converged pathway, 137, 140, 239
Convergence, 4–5, 8ge, 73–74, 117–145, 187, 200,
221–222ge
Convergent disease, 135–145, 340, 346, 350
COPD. See Chronic obstructive pulmonary disease
(COPD)
Copy neutral, 109ge
Copy number, 47, 51ge, 57ge, 102ge, 222ge
Coronary artery disease, 38, 143ge, 182
Coronary artery thrombosis, 38
Corpora amylacea, 126
Corpus callosum, 159
  and alcoholism, 159
Correlation, 96, 107ge, 121, 267, 315ge, 352
  distance, 311ge
Cost of curing curable disease, 141
Cowden syndrome, 50ge, 95, 100ge, 102ge, 156,
173–174ge
Cowdry bodies, 280f, 281
Coxsackie virus, 209
CpG islands, 84, 87, 100ge, 109ge
CpG methylation patterns, 100ge
CpG sites, 84, 90, 100ge
Cranioectodermal dysplasia (Sensenbrenner syndrome),
122–123
Creutzfeldt-Jakob disease, 144ge, 219ge
Cri du Chat, 104ge
CRISPR technology. See Clustered Regularly Interspaced
Short Palindromic Repeats (CRISPR) technology
Crohn disease, 54ge, 99ge, 199, 201, 220ge
Curator, 302, 307–308, 311ge
Curse of dimensionality, 296, 311ge
Cutis laxa, 72, 134, 289, 354ge
Cyanobacteria, 191–192, 219ge
Cyclooxygenase–2, 24
Cyclospora, 184, 219ge
Cyst, 104ge, 213, 216–217
Cystic fibrosis, 71, 98ge, 141, 142ge, 160, 334, 351, 356ge
Cytokine signaling, 83, 198
disorders, 199
Cytokine storm, 140, 352–353
Cytomegalovirus, 182, 222ge, 281
infection, 280f
Cytotoxic agents, 87, 105ge
Cytotoxic lymphocytes, 143ge
Cytotrophoblasts, 193, 238

D
DARC, 172
Darier disease, 24, 26–27
Dark data, 311ge
Data
  mining, 230, 355ge
  object, 9–10ge, 13ge, 143ge, 243–244, 253–258ge,
  264–271, 273–275, 285–286, 290–291, 298,
  311–314ge, 316–318ge, 355ge, 357–358ge
  readers, 341
  repurposing, 312ge, 355ge
  resource, 122–123, 252, 254ge, 271–272, 284, 286,
  292–293, 341, 352
  scrubbing, 307, 312ge, 355–356ge
  sharing, 302–318, 312ge, 343, 349
  triple, 267
Death certificate, 13ge, 38–40, 39f, 311ge, 339
Dedifferentiation, 101ge
Deficiency of the interleukin-1 receptor antagonist, 198
Deidentified record, 275, 308
Dengue virus, 223ge
De novo mosaic disease, 336
De novo mutation, 12ge, 24, 51ge, 57ge, 101ge, 107ge,
331–332, 334–336, 356ge
Dentatorubropallidoluysian atrophy, 108ge
Deoxyadenosine deaminase deficiency, 80
Deoxycoformycin, 80
Dermal bone, 254–255ge
Dermatofibroma, 45
Developmental disorder, 7, 75, 105ge, 139, 154–155t, 156
Diagnostic and Statistical Manual of Mental Disorders
(DSM), 7–13
Diethylstilbestrol fulfill, 30–31
Differentiation, 55ge, 80, 89, 100–101ge, 108ge, 243,
349–350
Digenic disease, 105ge, 173ge
DiGeorge syndrome, 104ge, 131
Dilated cardiomyopathy, 70, 95, 122–123, 128, 143ge
Dimensionality, 253ge, 296, 312ge, 356ge
Discordant diagnoses, 247–248
Disease convergence, 4–5, 8ge, 73, 117–145, 187, 200,
221–222ge
Disease pathway, 3, 40–44, 105ge, 142–145, 163, 170,
349–350, 353
Diseases-in-waiting, 205–210
Disease variants, 73, 78, 123–124, 132, 303, 331–332
Distal myopathy, 98ge, 279
Diuretics, 121, 136
DNA crosslink repair, 42, 51ge
DNA repair, 22, 34, 41–42, 48, 49ge, 51ge, 61ge, 72, 80, 84,
91, 99ge, 144ge, 164
DNA replication, 51ge, 144ge
Donovania granulomatis, 217
Double stranded DNA, 186–187, 221ge
Down syndrome, 52ge
Dravet syndrome, 142ge, 303
Driver pathway, 9ge, 170, 174ge
Drug-induced methemoglobinemia, 128
DSM. See Diagnostic and Statistical Manual of Mental
Disorders (DSM)
Ductal carcinoma in situ (DCIS), 32, 32f, 95
Duffy blood group antigen, 172
Dynein arms, 123
Dyserythropoiesis, 250, 254ge
Dyslipidemias, 164, 172
Dysmorphic facial development, 33–34
Dysmorphism, 121–122, 127, 156, 170, 234
Dysplasia, 51ge, 53ge, 70, 104ge, 122–123, 136f, 156–157,
175ge, 358ge
Dysplastic gangliocytoma, 102ge, 156
Dysplastic nevi, 33, 95
Dysregulations, 88, 106ge, 235
Dystrophic epidermolysis bullosa, 134
Dystrophin, 122

E
Early detection, 248–249, 251–252
Eaton lambert syndrome, 144ge
Ebola virus, 210
Ectoderm, 58ge, 61ge, 88, 101–102ge, 104ge, 235–238, 255ge
Edematous placental villi, 220ge
Eearly onset sarcoidosis, 54ge, 220ge
Ehlers-Danlos syndrome, 142ge
Electronic health record, 341
Electronic medical record, 272–273, 276, 340
Ellis van Creveld syndrome, 122–123
Embryo, 3, 30–31, 34, 54ge, 59ge, 85, 92, 103ge, 107ge, 235,
238, 252, 254–255ge
Embryogenesis, 81, 86, 103ge, 255ge
Embryonal carcinoma, 161, 238, 255ge
Emery-Dreifuss muscular dystrophy, 330
Emphysema, 82–83, 134, 158–159, 164–165t
Encapsulation, 308, 310, 312ge
Encephalitis lethargica, 206
Encephalitozoon intestinalis, 217
Enchondral bone, 238, 254–255ge
Encryption, 276, 312ge
Endocarditis, 202–203, 213, 220ge
Endoderm, 58ge, 61ge, 101ge, 104ge, 142ge, 235–238, 252ge,
255ge
Endodermal/Ectodermal neoplasms, 236
Endometrial carcinoma, 156
Environmental disease, 22, 83, 208
Environmental factors, 11–12ge, 24, 97, 119, 121, 127, 129,
158, 173, 173ge
Eosinophilic granulomatosis, 206
Epidermis, 30, 48, 53ge, 58ge, 60ge, 73, 101ge, 107ge,
123–124, 132, 242
Epidermolysis bullosa, 8ge, 70, 73, 123–124, 134
Epigenetic instability, 87, 108ge
Epigenome, 47–48, 51ge, 84–93, 89f, 100–101ge, 103ge,
108ge, 130, 154–155t
Epigenomic disease, 85, 90, 92
Epigenomics, 47–48, 84–93, 100–101ge, 129–130,
154–155t, 252ge
Epistasis, 6, 9ge, 42–43, 57ge, 144ge
Epithelial and non-epithelial tumors, 243
Eponymous disease, 45, 52ge
Epstein-Barr virus, 45, 55ge, 79, 140, 251, 339
Erasure, 85, 91, 103ge
Esophageal cancer, 159
ETV6-NTRK3 fusion, 250
Eugenics, 19, 331–337
Eukaryote, 55ge, 57ge, 182–183, 191–192, 205, 213, 219ge,
241, 354
Evolution, 48, 190–193, 230–231, 327–328, 343, 354
Evolutionary taxonomy, 184
Evolve, 8ge, 41–42, 60ge, 191–192, 306
Exceptional responders, 275, 295, 348–349
Exceptional responder trials, 348
Exome sequencing, 78–79, 98
Exon, 98ge, 101ge, 106ge
Exotic disease, 181, 219ge
Expressed genes, 109ge, 292
eXtended Markup Language (XML), 264–265, 317ge
EYA4 gene, 95

F
Facial angiofibromas, 102ge
Factor VIII, 56ge, 100ge, 134, 172
Facultative intracellular organism, 190–191, 220ge
Fair use, 307, 312ge
Familial aneurysm disorders, 142ge
Familial cold autoinflammatory syndrome, 54ge,
198–199, 220ge
Familial cold autoinflammatory syndrome-2
  (Guadaloupe periodic fever), 199
Familial dilated cardiomyopathy, 70, 95
Familial HLH, 199
Familial hypercholesterolemia, 56ge, 59ge, 164–165t, 171
Familial hypocalciuric hypercalcemia type, 134
Familial mediterranean fever, 54ge, 198, 200, 220ge
Fanconi anemia, 42, 49–51ge
Father’s sperm, 11ge
Ferruginous bodies, 279–280
Fibrochondrogenesis, 70
Fibromyalgia, 206
Fibrosing disorders, 199
Fibulin, 72
Filaria, 208, 218
First analyses, 303, 310
Flagellum, 199, 241–242
Flattening, 48, 341, 354
Flawed data, 307–308
Fleas, 202
Flu epidemic, 294, 332–333
Fluke, 48, 182, 339
Folic acid supplementation, 121
Food and Drug Administration, 141, 160–161, 346
Foreign antigen, 21–22, 192, 218ge
Forme fruste, 165, 174ge
Founder effect, 332–333, 356ge
Founder’s mutation, 356ge
Fourier series, 288, 357ge
Fragile x syndrome, 99ge, 108ge, 355ge
Free-lance data analysts, 343
Frequency, 34–36, 40, 57–58ge, 106–107ge, 125–127, 131,
155, 170, 189, 291, 292f, 300, 310, 318ge, 357ge
distribution, 291
Freshwater, 194
Friedreich ataxia, 83, 99ge, 108ge, 143ge
Frontotemporal dementia, 77, 281, 354ge
Fungemia, 212

G
GAA repeat, 83
Gain-of-function, 119
Gamete, 102–103ge, 174ge, 238, 255ge, 336
Gastric maltomas, 49ge
Gastrointestinal stromal tumor (GIST), 103ge, 140
Gastrulation, 236–238
Gaucher disease, 280, 334
Gaussian curve, 358ge
Gaussian distribution, 288, 291
Gene duplication, 105ge
Gene editing, 327–328, 335–336
Gene pool, 18, 35–36, 119, 157–158, 183–184, 190–191,
331–336
Gene sequence, 42, 161, 187, 204–205, 290
Gene silencing, 86–87, 336
Gene therapy, 46, 160–161
Genetically engineered mouse (GEM), 52ge
Genetic disease, 11ge, 22, 69–70, 120, 160, 208, 235, 335
Genetic heterogeneity, 8ge, 71, 74, 101ge, 103ge, 144ge
Genetic instability, 47, 49ge, 87–88, 89f, 92–93, 95, 99ge,
102ge, 175ge, 357ge
Genetic mosaicisms, 336
Genetic mutation, 2, 7ge, 11ge, 24–25, 72, 74–75, 80, 85, 90,
97, 118, 125, 127, 139, 145ge, 171, 175ge, 303
Genetic testing, 71
Genome testing, 97
Genome-wide Association Study (GWAS), 174ge
Genotype, 9ge, 23, 52ge, 60ge, 97, 99ge, 103ge, 144ge, 157,
175ge, 183, 215
Geriatric disease, 233
Germ cell(s), 52ge, 55–57ge, 59ge, 61ge, 102–103ge, 107ge,
155–156, 174–175ge, 235, 238, 251, 255ge, 290, 336,
339
  of body, 52ge
  line, 255ge, 336
  neoplasms, 238
  origin, 238, 290
  tumors, 103ge, 155–156, 238, 251, 339
Germinomas and seminomas, 175ge, 238, 255ge
Germ layer, 85, 104ge, 236–238, 242–243
Germline, 7ge, 25, 27–28, 33–34, 49ge, 51–52ge, 54ge, 60ge,
75–76, 80–82, 85–86, 97, 101ge, 103ge, 107ge, 109ge,
119, 126, 128, 130, 156, 220ge, 255ge, 313ge, 335–336
Germline mutation, 7ge, 25, 27, 33–34, 49ge, 51–52ge,
75–76, 80–82, 102ge, 107ge, 119, 130, 156
Gerstmann Straussler Scheinker Syndrome (GSS), 144ge
Gestational mole, 220ge
Gestational trophoblastic disease, 255ge
Giant cell (temporal) arteritis, 206
Gilbert syndrome, 57ge
GIST. See Gastrointestinal stromal tumor (GIST)
Glioblastoma, 138, 156
Gluten sensitive idiopathic neuropathies, 206
Glycosylation disorder, 58ge, 164, 173ge, 175ge
Gnathostomes, 192–193, 218ge
Golgi bodies, 41
Goodpasture syndrome, 132–133
Gorlin syndrome, 170, 175ge
Gout, 124, 198–201, 351–352
Granulocyte/macrophage colony stimulating factor
(GM-CSF), 137–138, 346
Graves’ disease, 131–132
Grawitz tumor, 282–283
Griscelli syndrome, 175ge, 199
Group A streptococcus infection, 21–22, 203
Gulf War syndrome, 206
GWAS. See Genome-wide Association Study (GWAS)

H
HACEK, 203, 213, 220ge
Haemophagocytic lymphohistiocytosis, 140, 199
Hairy cell leukemia, 55ge, 161
Hallermann Streiff syndrome, 206
Hamartin, 72, 103ge, 139, 354ge
Hamartoma, 56ge, 72, 100ge, 102ge, 138–139, 156, 174ge,
234, 354
Haploid, 86, 102ge
human genome, 287
Haploinsufficiency, 75
Haplotype, 86, 102ge
Hashimoto thyroiditis, 134
Healthcare institutions, 316ge
Hearing loss, 70, 82, 104ge, 106ge, 123, 128, 135,
173ge
Heat related deaths, 295–296
Heavy legs, 206
Helicobactor pylori infection, 49ge
Hematopoietic tissue, 166, 254ge
Hemochromatosis, 128, 143ge
Hemoglobin, 42, 56ge, 105ge, 107ge, 119, 143ge, 160, 163,
195–196, 334–335, 354ge
synthesis, 195–196
Hemolytic anemia, 133–134, 144ge, 197–198
Hemolytic uremic syndrome, 135, 199
Hemophagocytic lymphohistiocytosis, 99, 199
Hemophilias, 164, 235
HEMPAS, 254ge
Henoch schonlein purpura, 206
Hepatic angiosarcoma, 166–167
Hepatitis B virus, 339–340
Hepatitis C virus, 339
Hepatocellular carcinoma, 30, 47, 52ge, 58ge, 83, 166–167,
182, 339–340
Herceptin, 348
Hereditary angioedema, 126, 135
Hereditary hemorrhagic telangiectasia, 138
Hereditary inclusion body myopathy, 98ge
Hereditary leiomyomatosis, 79
Hereditary nonpolyposis colorectal cancer syndrome
(HNPCC), 143ge
Hereditary thrombocythemia, 98ge, 105ge, 139, 165
Hermansky-Pudlak syndrome, 175ge, 199
Herpes simplex infections, 194–195, 281
Heterochromasia iridum, 289
Heterokont, 213
Heterotaxy, 72, 105ge, 123
Heterozygosity, 54ge, 103ge, 109ge
High blood pressure, 44, 136
Hispaniola, 189, 196
Histiocytic medullary reticulosis, 103ge
HIV, 100ge, 128, 172, 196, 199, 221ge
and AIDS, 210–211, 219ge
Hodgkin lymphoma, 45, 52ge, 70, 161, 292–293, 293f,
357ge
Holt-Oram syndrome, 61ge, 76, 145ge
Homolog 1, 130
Homologous genes, 184
Homologs, 105ge, 354
Homology, 214, 253ge
Homunculus, 3
HTLV-1, 339
HTT gene (and CAG repeat), 71–72
Human malaria, 215
Human subject, 275–276, 294–295, 301, 307–308, 310,
345–346, 348, 356ge
Huntingtin protein, 71–72
Huntington disease, 71–72, 99ge, 103ge, 108ge, 300, 354ge
Hurler disease, 282
Hydatidiform mole, 198–199
Hydrops-ectopic calcification-‘moth-eaten’ (HEM), 96
Hydrops fetalis, 96, 131
Hyperbilirubinemia, 57ge
Hypercholesterolemia, 127, 171–172
Hyperimmunoglobinemia D with periodic fever
syndrome, 198
Hyperimmunoglobulin D, 54ge, 220ge
Hypermethylation, 86–87, 130
Hypermutate, 134
Hypernephroma, 282–283
Hypersurveillance, 327–329
Hypertension, 24–25, 121, 128, 136–137, 136f, 139, 158,
162, 165, 174ge, 334
Hyperthermia, 142ge, 144ge
Hypertrophic osteoarthropathy, 10ge
Hypocalciuric hypercalcemia, 284
Hypomethylating agents, 86–87, 91

I
ICD. See International Classification of Disease (ICD)
Ichthyosis, 104ge
Identification, 143ge, 160, 204, 234, 240–241, 253ge, 265,
271–277, 286, 308, 313ge, 338
Identifier, 13ge, 174ge, 253ge, 265, 355ge
IL-1-beta activation disorders, 198
Imatinib, 4, 140–141, 161, 346
Immediate cause, 37–38
Immune deficiency, 194, 222ge
syndromes, 192–193, 197, 218ge
Immunocompromised individuals, 194, 213
Immunodeficiency, 46, 72, 76, 79–80, 84, 98ge, 332–333,
352
Immunosuppressed individuals, 45
Immutability, 270–271, 273
Imprinting, 86
Inactivated x chromosome, 279
Incidental finding, 213
Inclusion bodies, 279–281
Incomplete dominance, 144ge
Indexing, 277, 281
Infectious disease, 7ge, 34, 36, 50ge, 53ge, 154, 181–190,
194–196, 202–204, 209–211, 213–214, 216, 219ge,
222ge, 231, 233–234, 251, 339, 352, 356ge
Inflammasome, 198, 200, 207
Inflammasomopathies, 198
Inflammatory disease, 54ge, 94, 139, 196–201, 220ge,
251
Inflammatory myofibroblastic tumor, 346
Inflammatory pathway, 139, 196–197, 200–201
Inflammatory response syndrome, 8ge
Information is release, 305
Informed consent, 346
Inherited dilated cardiomyopathy, 171
Inherited retinoblastomas, 313ge
Initiation, 45, 50ge, 54ge, 101ge, 145ge
Initiation factor, 56ge, 145ge
Innate immune system, 138, 197–201
Inscrutable genes, 69–78
Institutional Review Boards (IRBs), 275–276, 307, 346
Intermediate cause, 37–38
Internal body spaces, 237
International Classification of Disease (ICD), 233–234
Interoperability, 282, 306
Interpretation errors, 300
Interstitial cystitis, 206
Intracellular, 134, 190–191, 195, 199–200, 217, 220–222ge,
279
organisms, 195
Intraductal hyperplasia, 32
Intraflagellar transport, 123
Intrinsic factor, 135
Intrinsic immunity, 281
Introns, 83
Introspection, 269–270
IRBs. See Institutional Review Boards (IRBs)
Irreproducible, 6, 216, 218ge, 252ge, 298–300, 309
Irreversible, 126, 275–276
Irritable bowel syndrome, 206, 213

J
JAK2, 105ge, 139–140, 165
JAK2 mutation, 56ge, 140, 165
JAK2V617F, 140
Janus kinase, 72
Jeune chondrodysplasia syndrome, 122–123
Joubert syndrome, 122–123

K
Kallman syndrome, 98ge, 104ge
Kaposi sarcoma, 45–46, 50ge, 210–211, 293, 339
Karyopyknosis, 49ge
Karyotype, 89f, 103ge
Kashin-Beck disease, 206, 209
Kawasaki disease, 206
Kelley-Seegmiller syndrome, 105ge
Keratoacanthoma, 45, 49ge, 54ge
Kingella kingae, 203, 220ge
Klebsiella granulomatis, 217
Knockout mice, 27, 54ge, 128, 143ge, 352
Koch’s postulates, 201–205, 352, 356ge
Koilocytosis, 280f
Korean War, 286–287
Kupffer cells, 166–167

L
LAMA4 gene, 95
Lamellar inclusions, 137
Lamina propria, 203–204, 208
Lamin B receptor, 96
Lamin gene, 330–331
Large follicular center cell (diffuse histiocytic)
lymphoma, 161
Lassa fever, 219ge
Latency, 29–30, 46–47, 54ge
Lead-induced encephalopathy, 128
Leber congenital amaurosis, 122–123
Legacy data, 270, 273, 306, 314ge
Leishmaniases, 194–195, 342
Leishmaniasis, 154, 187–189, 219ge, 223ge
Leri-Weill dyschondrosteosis, 53ge
Lesch-Nyhan disease, 351–352
Lethal acantholytic epidermolysis bullosa, 70
Lethal genotypes, 144ge
Lethal junctional epidermolysis bullosa, 6, 70
Leukemia, 4, 9ge, 28, 33–35, 46, 49ge, 55–56ge, 58ge, 73, 87,
95–97, 103–104ge, 139–141, 142ge, 155–157,
160–162, 166, 233–234, 251, 339, 346, 349–350,
354ge
Lewy bodies, 126, 279
  dementia, 279
Lichen sclerosus, 206
Liddle syndrome, 24–25, 136f, 165
Li-Fraumeni syndrome, 49–50ge, 73, 103ge
Ligneous conjunctivitis, 79, 354
Limb malformation, 75, 168
Lineage, 9–10ge, 49ge, 51–52ge, 55–56ge, 84–85, 88,
100–103ge, 105ge, 107–108ge, 131, 185f, 230–232,
235, 242–243, 252–253ge, 255–257ge, 314ge, 318ge,
358ge
Lipodystrophy, 70–71, 172, 330–331
Lipopolysaccharide, 353
Liver cancer, 28, 47–48, 52ge, 159, 251, 340
LMNA (Lamin A/C), 70–71, 331
LMO2, 46
Locus heterogeneity (LOH), 71–72, 101ge, 103ge, 120, 141
Long branch attraction, 187, 221–222ge
Long noncoding RNA, 106ge
Loss-of-function, 98–99ge, 118, 158–159, 197–198
Lou Gehrig disease, 282
Louis-Bar syndrome, 99ge
Low penetrance, 27, 50ge
LRRK2 gene mutation, 164–165t, 171
LRRK2 protein kinase, 171
Lubeck disaster, 22
Lymphoma, 28, 45–47, 49–50ge, 52ge, 55ge, 88, 103ge, 139,
155–157, 161, 251, 292–293, 293f, 339–340, 346,
349–350, 356–357ge
Lymphoproliferative disease, 45, 55ge
Lymphoproliferative disorder, 50ge, 56ge
Lynch cancer family syndrome, 50ge
Lynch syndrome, 119, 143ge
Lytico-Bodig disease, 206

M
Machine translation, 255ge, 282–283
Macrophage, 23, 54ge, 137–138, 140, 195, 198–199, 201,
203–204, 220ge, 280–281, 346
activation disorders, 199
Mad hatter disease, 168
Majeed syndrome, 54ge, 198, 220ge
Major histocompatibility complex, 72
Malakoplakia, 281
Malaria, 107ge, 169, 172, 182, 184, 195–196, 215, 219ge,
223ge, 244–245
Malassezia furfur, 217
Malignant fibrous histiocytoma (MFH), 218ge, 252ge
Malignant phenotype, 28, 47–48, 50ge, 55ge, 87, 99ge,
105ge, 107ge, 175ge
Malignant transformation, 26–27, 238
Malnutrition, 219ge, 222ge
MALToma, 30, 48, 357ge
Maltomas, 49ge, 55ge
Mantle zone, 1
Manual coding, 283
Marchiafava-Bignami disease, 159
Martsolf syndrome, 175ge
Materia medica, 200
Maternal lineage, 55ge
Mathematical models, 356ge
Maturity onset diabetes of the young (MODY), 76, 96–97
Mayaro fever virus, 219ge
McKusick-Kaufman syndrome, 122–123
Meckel-Gruber syndrome, 122–123
Mediterranean anemia (thalassemia), 200
Medullary, 81, 103ge
Medullary thyroid carcinoma, 237, 255ge
Medulloblastoma, 103ge
Melanoma, 26–27, 33, 55ge, 94–95, 103–104ge, 107–108ge,
237, 288
MEN2 (multiple endocrine neoplasia-2), 256ge
Mendelian disease, 104ge, 131
Mendelian inheritance, 104ge, 131–132, 144ge, 154
Menetrier disease, 53ge
Merkel cell carcinoma, 339
Mesenchymal cells, 242–243
Mesoderm, 58ge, 60–61ge, 88, 101ge, 104ge, 158, 235–238,
242–243, 255ge
Mesothelioma, 26–27, 29, 126, 167–168, 339
Metabolic pathway, 24, 117, 120, 125, 159, 191, 235, 346,
348
Metabolic syndrome, 158, 174ge
Metadata, 264, 267–270, 286, 311ge, 316ge
Metastasis, 9ge, 144ge, 221ge, 251, 255ge
Metazoa, 230, 255ge
Methemoglobinemia, 128
Methotrexate, 128
Methylating agents, 86–87, 91
Methylation, 75, 84, 86–87, 90–91, 100–101ge, 103ge
inhibitors, 91
Methylmalonic acidemia, 128
MFH (malignant fibrous histiocytoma), 218ge, 252ge
MGUS (monoclonal gammopathy of undetermined
significance), 31, 55ge, 248–249
Microarray, 13ge, 336, 342, 357ge
Microdeletion disease, 104ge
Microphthalmia-, 53ge, 61ge, 82, 145ge
MicroRNA, 85, 91–92, 104ge, 106ge
Microsatellite, 57ge, 98ge, 143–144ge
  instability, 119, 140, 144ge
Microscopic polyangiitis, 207
Microthrombotic disorder, 125
Miller syndrome, 128
Milroy disease, 75, 96–97, 120
Mimics of common diseases, 129, 131, 248
Mimics of rare inherited disease, 131
MiRNA, 104ge
Misfolded proteins, 98ge, 144ge
Mismatch repair, 42, 51ge, 130, 140, 143–144ge
  pathway, 130
Mitochondrial DNA, 73, 77
Mitochondrial myopathy, 128
Mitochondriopathic deafness, 128
Mitochondriopathies, 84, 104ge, 164
Mitosis, 55–56ge, 109ge
Modeling algorithms, 357ge
MODY (maturity onset diabetes of the young), 76, 96–97,
121, 164–165t
Monkeypox virus, 219ge
Monoclonal gammopathy, 31, 50ge, 55ge, 248–249
Morgellons disease, 207
Mortimer disease, 207
Motor neuron disease, 104ge, 279
Muckle-Wells syndrome, 54ge, 198, 220ge
Mucolipidosis, 142ge
Muir-Torre syndrome, 50ge
Multicentric Castleman disease, 50ge
Multiclass classification, 230, 255ge
Multiclass inheritance, 50ge, 256ge
Multifactorial disease, 103ge
Multiple basal cell carcinoma, 175ge
Multiple endocrine neoplasia, 256ge
Multiple myeloma, 31, 55–56ge, 248–249, 249f
Multiple sclerosis, 197, 201, 349–350
Multipotent stem cell, 56ge
Multi-step disease, 29–30
Multistep pathogenesis, 12ge, 205
Muscular dystrophy, 53ge, 56ge, 70, 122, 175ge, 330
Muscularis propria, 265
Mutagen, 56ge
Mutation, 2, 23, 69–70, 118, 156, 187, 250, 281, 329
Mutation rate, 336, 357ge
Mutator phenotype, 156–157, 175ge
Myalgic encephalomyelitis, 346, 349–350
Myasthenia gravis, 126, 133, 142ge, 197
MYC, 47–48, 95
Myelodysplastic syndrome, 104ge, 156–157, 250
Myelofibrosis, 56ge, 139, 165
Myeloproliferative disorders, 33–34, 56ge, 60ge, 104ge,
124, 139–140, 165
Myeloproliferative syndrome, 48ge
Myofascial pain syndrome, 207
Mytotonic dystrophy, 108ge
Myxomatosis, 350–351

N
Naegleria encephalitis, 194, 213
Naegleria fowleri, 194, 213
National Academies of Sciences, 1
National patient identifier, 276–277, 314ge
Natural selection, 35–36, 41, 43, 56ge, 58ge, 157–158, 169,
191–192, 334, 336
Neonatal-onset multisystem inflammatory disease,
  54ge, 220ge
  chronic neurologic cutaneous and articular syndrome,
  198
Neorickettsia sennetsu, 210–211, 218
Nephroblastomas, 30, 243
Nephronophthisis, 122–123, 351–352
Nerve cells, 143ge
Nerve conduction, 82
Neural crest, 81–82, 84, 219ge, 235, 237–238, 254–256ge
Neural tube, 237–238
  defects, 121
Neurectoderm, 88, 105ge
Neuroblastoma, 75, 95, 155–156, 293, 346
Neurocristopathy, 238, 256ge
Neurofibrillary tangles, 126, 353
Neurofibroma, 56ge, 74–75, 313ge
Neurofibromatosis, 27, 56–57ge, 74–75, 104ge, 109ge, 138,
145ge, 256ge, 313ge, 354ge
Neuromuscular junctions, 138
Neuron, 51ge, 84, 100ge, 104ge, 107ge, 279
Neurotoxin, 300
Neutralizing autoantibodies, 137–138
Neutropenia, 49ge, 76, 83, 100ge, 133–134, 137, 197–198,
346
Nevocellular cells, 57ge
New daily persistent headache, 207
New variant creutzfeldt jakob disease, 144ge
NF-B activation disorders, 199
NKX2.5 homeobox gene, 53ge
Nodding disease, 207–209
Nomenclature, 10ge, 12ge, 38, 59ge, 61ge, 216, 221ge,
223ge, 233, 241, 257ge, 282–284
Nomenclature code, 282–283
Noncoding region, 76–77, 101ge, 106ge, 118, 127, 158–159,
336
Nonconvergent disease, 124
Nonhistone chromatin complex, 84
Nonhistone nuclear protein, 88
Non-Hodgkin lymphoma, 349–350, 357ge
Noninherited genetic disease, 33–34, 57ge
Nonphylogenetic property, 187, 222ge
Nonphylogenetic signal, 187, 222ge
Nonquantitative data, 277–279
Nonsyndromic disease, 70, 105ge
Nuclear atypia, 19–20, 55ge, 87–88, 89f, 102ge
Nuclear membrane, 41, 87–88, 109ge
Nucleoli, 41, 87–88, 89f
Null hypotheses, 106ge, 314–315ge, 318ge
NUT-1 Gene, 164–165t
NUT midline carcinoma, 250

O
Obesity, 11ge, 54ge, 72, 75, 103ge, 123, 143ge, 157–158, 162,
174ge, 337
Object oriented programming, 223ge, 254ge, 256ge,
266–267, 269, 311–312ge, 314ge
Obligate intracellular organism, 190–191, 222ge
Observational data, 349, 358ge
Odontogenic keratocyst, 170, 175ge
Off-label, 350, 358ge
Oguchi disease, 73
Oligodendroglioma, 358ge
Onchocerca volvulus, 208, 219ge
Oncocyte, 159, 176ge
Oncogene, 26–28, 34–35, 46–47, 48ge, 54ge, 57ge, 59ge,
80–81, 107ge, 143ge, 192, 222ge, 329, 357ge
Ontology, 6, 9ge, 60ge, 232, 256ge, 306, 311ge
O’nyong’nyong fever virus, 223ge
Oocyte, 11ge, 52ge, 55ge, 107ge, 155
Open access, 303
Open reading frame (ORF), 70, 105ge
Open source, 288, 290–291, 313ge
Operating system, 232, 267, 272, 288, 313ge, 317ge
Opisthokonts, 217, 241–242
Opisthorchis viverrini flatworm (fluke), 339
Opportunistic infection, 194, 205, 222ge
Oral cancer, 159
ORF (open reading frame), 70, 105ge
Orofaciodigital syndrome, 122–123
Orphan diseases, 154
Orphan drug, 160, 175ge, 345–346
Orthodisease, 354, 358ge
Ortholog, 75–76, 105ge, 354
Orthologous gene, 105ge, 351, 354, 358ge
Osteitis fibrosa cystica, 109ge
Osteoarthritis, 94, 209
deformans endemica, 209
Osteomyelitis/synovitis, 198
Osteoporosis, 168–171
pseudoglioma syndrome, 170–171
Osteosarcoma, 73, 103ge
Outcome data, 275, 290, 348–349
Outlier, 99ge, 275, 294–295, 302
Ovarian cancer, 103ge, 136–137, 344
Oxygenic photosynthesis, 191–192

P
P53, 41, 73, 95, 103ge
Palindrome, 290
Pancreatic islet, 20, 339
Pancytopenia, 49ge, 100ge, 104ge, 254ge
PAPA. See Pyogenic arthritis, pyoderma gangrenosum,
and acne (PAPA)
Papanicolaou smear, 358ge
Pap smear, 338, 358ge
Paradox, 17–25, 231–233, 246–247, 256ge
Paraganglia, 81
Paraganglial tumor, 81
Paraganglioma, 80–81, 83–84
Paralog, 105ge
Paraneoplastic syndrome, 142ge, 144ge
Paraphyly, 255ge
Parasite, 53ge, 133, 172, 182, 194–196, 215, 217, 219–220ge,
223ge, 304
Parasitic organisms, 190–191, 223ge
Parasympathetic, 135
Parent class, 8–9ge, 12ge, 189, 205, 222ge, 229–232, 252ge,
255–256ge, 267, 269, 311ge, 314ge
Pareto’s principle, 314–315ge, 318ge
Parkin knockout mice, 352
Parkinson disease, 6–7, 52ge, 54ge, 143ge, 164–165t, 171,
352–353
Paroxysmal nocturnal hemoglobinemia, 60ge
Partial lipodystrophy, 330
Partial mole, 220ge, 257ge
Partington syndrome, 53ge
Pathway, 2, 18, 69–70, 117, 159, 184, 231, 269, 341
Pathway directed treatments, 135–145, 346–347
Pathway trials, 346
Patient confidentiality, 305
PDGFR. See Platelet derived growth factor receptor
(PDGFR)
Pelger-Huet anomaly, 88, 96, 128, 355ge
Pembrolizumab, 140
Pemphigus, 132
Penetrance, 9ge, 27, 50ge, 57ge, 74, 144ge
Percolozoan encephalitis, 213
Periodic fever syndrome, 198
Pernicious anemia, 128–130, 132–133
Peroxisome biogenesis disorder, 164
Peroxisome disorder, 222ge
Personalized medicine, 2, 337
Petriellidium boydii, 216
Phakoma, 354
Pharmacogenomics, 305, 315ge
Phenocopy disease, 105ge, 125–131, 145ge, 164, 352
Phenotype, 2, 23, 71–72, 117, 156, 197–198, 235, 303, 336
Phenotypic heterogeneity, 162, 175ge
Phenylketonuria, 56ge, 160
Phenytoin embryopathy, 121–122
Pheochromocytoma, 80–81, 83
Philadelphia chromosome, 58ge
Phocomelia, 83, 128, 168
Photosynthesis, 191–192, 219ge
Phyllodes tumor, 73
Phylogenetic chronometer, 71
Phylogenetic classification, 358ge
Phylogenetics, 72, 187, 217, 221–222ge, 253ge, 278, 358ge
Phylogeny, 340, 358ge
Pigmented villonodular synovitis, 207
Pityriasis rosea, 207
PiZZ variant, 83
Placenta, 192–193, 238–240, 255ge, 258ge
Plasma cells, 31, 55–56ge, 134, 197, 218ge, 248–249, 249f
Plasminogen deficiency, 354
Plasmodium knowlesi, 215
Plasmodium vivax malaria, 172, 196
Platelet derived growth factor receptor (PDGFR), 103ge,
140
PLEC gene, 73, 123–124
Pleiotropic, 72, 76, 105ge, 332–333
Pleiotropy, 144ge
Plod2 gene (procollagen lysine dioxygenase 2), 142ge
Pneumococcal disease, 164–165t, 195
Pneumocystis, 53ge, 216–217
Point mutation, 56–57ge, 59ge, 143ge, 331, 357ge
Polyangiitis, 206–207
Polyarteritis nodosa, 207
Polycystic kidney disease, 122–123, 174ge
Polycythemia, 56ge, 83, 105ge, 139, 165
Polygenic disease, 127, 131, 144ge, 157–158, 173–174ge,
333–334
Polymorphism, 8ge, 42, 54ge, 58ge, 78–79, 97, 102ge, 106ge,
118, 134, 143–144ge, 157–158, 174ge, 195–196,
220ge, 290, 312ge
Polynucleotide repeat disorder, 108ge
Polyvinyl chloride, 166
Population of the U.S, 11ge, 107ge, 154, 291
Porphyria cutanea tarda, 57ge, 127
Posterior cortical atrophy, 207
Posterior flagellum, 241–242
Postmitotic cell, 48, 58ge, 60ge, 98ge, 234
Post translational defects, 173ge
Post translational modifications, 26, 58ge, 101ge, 164,
175ge
Post-transplant lymphoproliferative disease, 55ge
Potocki-Shaffer syndrome, 53ge
Power law, 288, 291, 314–315ge, 356–357ge
Power series, 288
Prader-Willi/Angelman syndrome, 75, 86, 103–104ge
Precancer, 31–34, 46–47, 49–51ge, 53ge, 55–56ge, 58–59ge,
87–88, 203, 338
regression, 58ge
Precancerous condition, 31, 58ge
Precision
data, 5, 263–318
diagnosis, 106ge, 215–216, 247–258, 338
medicine, 1–13, 17, 69–109, 117, 153–154, 160–162, 187,
234, 270, 285–298, 301, 327–358
taxonomy, 210–223
Preclinical trial, 352–353, 358ge
Precursor lesions, 32, 44, 248
Precursors, 32–34, 44, 89, 95, 106ge, 134, 248, 252ge,
254–255ge
Predictive analytics, 257ge, 357ge
Predictive test, 10ge, 257ge
Predictor, 257ge
Premalignancy, 59ge
Premature aging disorders, 71
Premature aging syndrome, 70, 101ge
Prevalence, 11–12ge, 24, 27, 59ge, 101ge, 131, 154, 358ge
Prevotella dentalis, 213
Primary biliary cirrhosis, 197
Primary cilia, 9ge, 123
Primary data, 307, 315ge
Primary disease, 6, 9ge, 11–12ge, 92
vs. secondary disease, 10ge
Primary effusion lymphoma, 45
Primary erythromelalgia, 10ge, 124–125
Primary host, 220ge, 223ge
Prion, 144ge, 181, 183, 187, 203, 214, 221ge, 354
Prion disease, 119, 126, 144ge, 354
Privacy vs. confidentiality, 307, 315ge
Prognosis, 2, 10ge, 95, 108ge, 250–252
Progressive neurodegenerative disorder, 71–72
Prokaryotes, 57ge, 183, 191, 213
Promoter, 46–47, 52ge, 56ge, 59ge, 100–101ge, 106ge, 219ge
Promyelocytic leukemia, 87, 161
Properties vs. classes, 257ge
Prospective clinical trial, 344, 349
Protein folding disorders, 199
Protein misfolding disorders, 198
Proto-oncogenes, 46–47, 48ge, 57ge, 59ge, 222ge
Protozoa, 59ge, 205, 213, 216–217
Protozoal infections, 258ge
Protozoans, 23, 59ge, 205, 216–217, 258ge
Proviruses, 46
Proximate cause, 13ge, 37–38, 40, 59ge
Prurigo nodularis, 207
Psammoma bodies, 126, 279
PSA value, 277
PSEN1 gene, 95
Pseudallescheria boydii, 216
Pseudallescheriosis, 216
Pseudoagouti, 86–87
Pseudoconvergent diseases, 124
Pseudodichotomy, 199, 243
Pseudogene, 85, 106ge
Pseudo-Pelger-Huet, 128
Psoriasis, 139
Psychiatric disorder, 7
PTEN gene, 102ge, 156
Public Law, 11ge, 154, 346
Pulmonary alveolar proteinosis (PAPs), 126, 133,
137–138, 346
Putative causal oncogene, 28
P value, 314ge, 358ge
Pyoderma gangrenosum, 54ge, 198, 220ge
Pyogenic arthritis, 54ge, 198, 220ge
Pyogenic arthritis, pyoderma gangrenosum, and acne
(PAPA), 198
Pyruvate dehydrogenase, 100ge

Q
Quantitative traits, 136, 334
Quaternary disease, 12ge

R
Rag1 and Rag2 recombinase, 80
Ragged red fiber myopathy, 279
Rag genes, 192–193, 218ge
Randomized control trial, 343, 348–349
Randomly occurring mutation, 98ge
Random number, 266, 296–298
Rare diseases, 4, 19, 73, 122, 153–176, 204, 248, 289, 330
  Act of 2002, 11ge, 154
Recessive polycystic kidney disease, 122–123
Recommender algorithms, 243–244, 258ge
Redundant systems, 197
Reference laboratories, 213–214
Reflection, 30, 270, 313ge
Refractory anemia, 97, 104ge
Refsum disease, 222ge
Regression, 33–34, 47, 50ge, 55–56ge, 58–59ge
Regulatory element, 9ge, 42–43, 61ge, 76, 106ge, 145ge
Reidentified record, 312ge
Relapsing polychondritis, 197
Renal angiomyolipoma, 83, 102ge, 174ge
Renal artery dysplasia, 136f
Renal cell carcinoma (RCCs), 83, 106ge, 242–243, 282–283
Renal tubular acidosis, 128
Repeatability, 26, 343
Retinal dystrophy, 120, 122–123
Retinitis, 73
pigmentosa, 8ge, 70, 73, 101ge, 107ge, 119–120, 123,
142ge, 173ge
Retrospective data, 349
Retrovirus, 46–47, 57ge, 59ge, 182, 190, 192–193, 199,
221–223ge, 339
Rett syndrome, 7, 90, 100ge
Rhabdoid tumor, 47, 60ge, 88–90, 89f, 354
Rhabdoid tumor A, 60ge
Rhabdomyosarcoma, 49ge, 103ge
Rheumatic fever, 21–22, 132–133, 203, 233–234
Rheumatoid arthritis, 131–132, 134, 139, 197, 201, 346,
349–350
Rh incompatibility disease, 131
Rickettsia, 55ge, 191, 217, 221ge
Rickettsiosis, 217
Rieger syndrome, 53ge
Risk prediction, 248, 251–252
RNA polymerase, 59ge, 106ge, 219ge
RNA silencing, 101ge
RNA splicing, 85, 98ge
RNA that might influence gene, 85
Roberts syndrome, 83, 128, 355ge
Rochalimaea quintana, 217
Rod cone dystrophy, 72
Root cause, 2, 9–10ge, 12–13ge, 24–25, 46, 51ge, 56ge, 60ge,
71, 76–79, 81, 85, 89–90, 92, 96, 117, 121, 125, 127,
129, 137, 140, 144ge, 154–155t, 158–160, 188–189,
192–193, 195, 207, 303, 341, 345, 347–348, 351–352,
355ge
Rubber and tire manufacturing industries, 166
Russell-Silver syndrome, 75, 86, 106ge

S
Sample contamination, 216, 300
Sample size, 106ge, 296, 298, 315ge
Sampling errors, 278, 300
Sampling size, 298
SAPHO syndrome (synovitis, acne, pustulosis,
  hyperostosis, and osteitis), 207
Sarcoglycan complex synthesis, 164
Sarcoglycanopathies, 164
Sarcoidosis, 54ge, 207, 220ge
Sars virus, 219ge
Schnitzler syndrome, 199
Schwannoma, 56ge, 138, 145ge
SCID. See Severe combined immunodeficiency disease
(SCID)
SCN5A gene, 95
Screening tests, 248, 257ge, 338
Scurvy, 128, 233–234
Secondary data, 11ge, 315–316ge
Secondary disease, 6, 9–12ge
Secondary HLH, 199
Secretory breast carcinoma, 250
Self-limited disease, 210
Seminoma, 156–157, 161, 175ge, 238, 255ge, 339
Senior-Loken syndrome, 122–123
Serotype, 215, 223ge
Serratia marcescens, 212
Severe combined immunodeficiency disease (SCID), 46,
72, 80, 84
SGCD gene, 95
Shagreen patches, 54ge
Shoe industry workers, 166
Short rib polydactyly, 122–123
Short stature homeobox, 53ge
Shwachman-Diamond syndrome, 24–25, 95–96
Sick building syndrome, 207
Sickle cell anemia, 119, 334, 354ge
Sickle cell disease, 50ge, 56ge, 107ge, 119, 143ge, 160, 195,
334–335, 354ge
Sideroblastic anemia, 97, 104ge, 128
Signaling pathway, 139, 170
Sign of Leser-Trelat, 144ge
Silent mutation, 106ge
Similarity scores, 282–283
Single gene disease, 70–71, 96, 105ge, 107ge
Single nucleotide polymorphism (SNP), 56ge, 78–79,
98ge, 102ge, 106–107ge, 174ge, 336
  in GWAS, 174ge
Single nucleotide variant (SNV), 106ge
Sister chromatid cohesion, 83
Situs inversus, 105ge, 124f
Sjogren’s syndrome, 207
Sleeping sickness, 187–188
Small cell carcinoma, 173ge
Small interfering RNA, 106ge
Smallpox virus, 172
Smokovia, 18–19
Smoothened, a multifuctional protein, 170
Sodium channel, 10ge, 124–125, 142ge, 165
Soma, 34, 60ge
Somatic
  mosaicism, 103ge, 107ge, 335
  mutation, 33–34, 56ge, 59–60ge, 75, 98ge, 107ge, 165,
  335–336, 357ge
Soot, 166
Speciation, 35, 105ge, 258ge
Species, 2, 8–10ge, 17, 21–22, 31–33, 35, 41–42, 49ge, 53ge,
60ge, 75–76, 104–106ge, 119–120, 142–144ge,
171–172, 181–184, 187–188, 188–189t, 190–191,
193–194, 196, 202–204, 210–211, 213–217,
219–221ge, 223ge, 230–231, 240–242, 248–249,
253ge, 255ge, 257ge, 280f, 284, 287–288, 332, 334,
351–354, 356ge, 358ge
Spherocytosis, 70
Spliceosome disease, 107ge
Spliceosome disorder, 98ge
Spondyloarthropathies, 199
Spontaneous abortions, 128, 336
Spontaneous cerebrospinal fluid leak, 207
Spontaneously regressing diseases, 59ge
Spontaneous regression, 33–34, 55ge
Spontaneous vs. sporadic, 60ge
Sporadic, 12ge, 24–25, 50ge, 60ge, 94–96, 119–120, 126, 171,
355ge
prion disease, 119
retinoblastomas, 313ge
Sporadic disease, 6, 24–25, 119, 293
  vs. phenocopy disease, 145ge
Sporozoite, 216–217
Squamous carcinoma, 33, 35, 45, 54ge, 107ge, 166, 173ge,
203
Src oncogene, 46–47
Staging, 245–246, 250–252, 258ge
Statin, 4, 171–172
Statistical anomaly, 246–247
Stem cells, 30, 49ge, 52ge, 56ge, 58ge, 60–61ge, 101ge, 105ge,
107–108ge, 166
Stickler syndrome, 70
Stiff person syndrome, 207
Stoichiometric, 40–41
Stroke, 158, 182
Subclassify, 230–231, 245
Subpopulation of cells, 59ge, 73, 88, 238, 296
Subtypes of disease, 98ge, 250, 278, 292, 348
Succinate dehydrogenase (SDHB), 80–81
Sudden infant death syndrome (SIDS), 287
Sudden unexpected death syndrome, 207
SUMO, 256ge
Superclass, 6, 8ge, 10ge, 12ge, 222ge, 232–239, 257ge, 286,
311ge
Susceptibility, 2, 7ge, 12ge, 50ge, 73, 77–78, 91, 144ge, 157,
190, 195, 212, 222ge, 251, 332–333, 351
Susceptibility gene, 12ge, 77–78, 294
SV40-like polyoma virus, 339
SV40 virus, 339
Sweating sickness, 207
Syncytin, 193
Syncytiotrophoblasts, 238
Synovial osteochondromatosis, 207
Systemic lupus erythematosus, 133–134, 197, 251, 346,
349–350

T
Taino, 189, 196
Takayasu’s arteritis, 207
Tangier disease, 127, 164
Targeted therapies, 94, 245
Tau encephalopathy, 128
Tau protein, 281, 354ge
Taxon-A, 223ge
Taxonomy, 6, 12ge, 97–98, 181–189
T cells, 46, 72, 80, 131, 161–162, 192–193, 197, 218ge, 339
Telomere, 354
Teratomas, 30, 238, 255ge
Teratomatous neoplasms, 235
Tertiary disease, 11–12ge
Thalamus, 159
Thalidomide, 128, 168
Thesaurus, 223ge
Thorotrast, 166–167
Thrombocythemia, 56ge, 98ge, 105ge, 139, 165
Thyroid carcinoma, 12ge, 169, 181–189, 210–223, 232,
240–241, 253–254ge
Ticks, 202, 223ge
Tietz syndrome, 81–82
Time stamp, 264, 266–269, 271–272, 313ge, 317ge
Timothy syndrome, 142ge
Tnf receptor associated periodic syndrome, 220ge
TNNC1 gene, 95
TNNT2 gene, 95
Torticollis, 138, 171, 207, 350
Totipotent stem cell, 56ge, 58ge, 61ge, 90–91, 235, 238,
255ge
Toxin, 9ge, 18, 20, 22–23, 29–30, 44, 94, 101ge, 105ge,
129–130, 138, 143ge, 156–157, 159, 165–166,
168–169, 171, 194–196, 207, 235, 281, 350, 353–354
Toxoplasmosis, 184, 194–195, 339
TP53 gene, 71, 73
Trachoma, 208
Trans acting, 101ge, 108ge
Transcription factor, 9ge, 42–43, 53ge, 58–59ge, 61ge, 76,
82, 101–102ge, 106ge, 118, 145ge
Transdifferentiation, 108ge
Transfected T cells, 162
Transgenic strain, 47, 76
Translational research, 141, 145ge
Translation factor, 145ge
Translocation, 48ge, 57–58ge, 87, 108–109ge, 222ge, 251
Transplacental carcinogenesis, 167, 175ge
Transposable element, 223ge
Transposon, 106ge, 190, 221ge, 223ge
Trastuzumab, 348
Trench fever, 202
Trichodynia, 207
Trigger finger, 207
Trilateral retinoblastoma, 318ge
Trinucleotide repeat disorder, 71–72, 108ge
Triple, 42, 254ge, 267, 316ge
Trophoblastic tumor, 238, 255ge
Trophozoite, 216–217
Tropical sprue, 207
Trypanosoma brucei, 187–188
TSC2 gene, 139, 174ge
Tuberculosis, 22, 27, 182, 189, 194–196, 339, 351
Tuberous sclerosis (TSC), 27, 54ge, 72, 95, 102–103ge,
138–139, 174ge, 354, 354ge
Tubers, 102ge, 138, 354
Tumor necrosis factor receptor-associated periodic
syndrome (TRAPS), 199
Tumor speciation, 35
Turner syndrome, 53ge
Type 2 diabetes mellitus, 4, 11ge, 76, 121, 157, 199, 334
Type errors, 318ge
Type II pneumocytes, 137
Tyrosine kinase, 58ge, 140–141, 161

U
Ubiquitin protein, 61ge
Ulcerative colitis, 293–294
Ultraviolet light, 77–78, 158
Unclassifiable objects, 258ge
Undiagnosed JAK2 mutation, 165
Undifferentiated tumors, 108ge
Unikonta, 186, 241–242
Uniparental disomy, 54ge, 98ge, 109ge
Uniqueness, 2, 13ge, 264–265, 272, 275, 337
Universal and perpetual, 318ge
Universally unique identifier (UUID), 265–266, 318ge
Unphagocytosed organisms, 281
Ureteric bud, 242–243
Usher Syndrome, 70, 101ge, 122–123, 175ge
U.S. Navy, 212

V
Validation, 5–7, 13ge, 125, 301–302, 316ge, 342–343,
348–349
Vanishing bone disease, 206
Vanishing white matter, 145ge
Variable expressivity, 74–76, 109ge
Vascular endothelial growth factor, 120
Vascular malformation, 99ge
Vector, 162, 202, 219ge, 223ge
VEGFC, 120
Velocardiofacial syndrome, 104ge
Ventilator tubes, 214
Verrucous carcinoma, 339
Vesicular trafficking disorders, 164, 173ge, 175ge
Vesicular transport disorder, 175ge, 281, 354
Visceral situs anomalies, 122–123
Vital signs, 44, 328–329
Vitamin B, 97, 128
V(D)J recombination units, 80
Von Hippel-Lindau disease, 109ge
Von Recklinghausen disease, 56ge, 109ge
Von Willebrand disease, 127, 135

W
Waardenburg syndrome, 53ge, 61ge, 81–82, 145ge
Warfarin embryopathy, 121–122, 128
Warthin tumor, 159, 176ge
Wegener’s syndrome, 206
Wernicke-Korsakoff syndrome, 159
West nile fever virus, 219ge
WHIM, 76
Whipple disease, 203–204, 208, 281, 356ge
Wild-type gene, 145ge
Wilms tumors, 49ge, 53ge, 73, 243
Wilson disease, 128
Wolbachia pipientis, 208, 219ge
Wolf-Hirschhorn syndrome, 53ge, 104ge
Woolly hair, 70
World Health Organization, 13ge, 182, 216, 234, 337
Wrong statistical test, 318ge

X
X chromosome, 7, 85–86, 109ge, 279, 318ge, 336
Xeroderma pigmentosum, 109ge, 354
X-linked lymphoproliferative syndrome, 199
XML (eXtended Markup Language), 264–265, 317ge

Y
Y chromosome, 102ge, 109ge, 308, 318ge, 354ge
Yellow fever virus, 219ge, 223ge

Z
Zebrafish, 195, 347–348, 351
Zika virus, 188t
Zipf distribution, 291, 292f, 314–315ge, 358ge
Zollinger-Ellison syndrome, 164–165t
Zoonosis, 5, 26, 342
Zygote, 3, 35, 51–52ge, 54ge, 85, 107ge, 335–336, 356ge