AD |
Alzheimer's Disease |
|
ADPD |
Alzheimer's Disease and Parkinsons's Disease |
|
AMDF |
Ataxia, Myoclonus and Deafness |
|
ANT |
Adenine Nucleotide Translocator |
|
CCA |
Constitutional Chromosome Abnormalities |
|
CCAs |
Complex Chromosomal Abnormalities |
|
CCD |
Classic Cleidocranial Dysplasia |
|
CCFDN |
Congenital cataracts facial dysmorphism neuropathy |
|
CCHB |
Complete Congenital Heart Block |
|
CCHS |
Congenital central hypoventilation syndrome |
|
CCM |
Congenital Cardiovascular Malformation |
|
CCM |
Cerebral Cavernous Malformation |
|
CCM |
Cerebral Capillary Malformation |
|
CCOF |
Chromosome Competent Ovarian Failure |
|
CCRC |
Chromophobe Cell Renal Carcinoma |
|
CCRC |
Clear Cell Renal Carcinoma |
|
CCRCC |
Clear Cell Renal Cell Carcinoma |
|
ccs |
clear cell sarcoma |
|
CCW |
cataract and curly whiskers |
|
CD |
Congenital Defects |
|
CD |
cortical dysplasia |
|
CD |
Cowden Disease |
|
CD |
Canavan disease |
|
CD |
Coeliac Disease |
|
CD |
Campomelic dysplasia |
|
CD |
Conduct Disorder |
|
CD |
Celiac Disease |
|
CD |
Crohn disease |
|
CD |
Cone Degeneration |
|
CD |
Chromosome Damage |
|
CD |
Chromosomal Damage |
|
cda |
congenital dyserythropoietic anemia |
|
CDC |
Collecting duct carcinoma |
|
CDCS |
Cri Du Chat Syndrome |
|
CDD |
Congenital Developmental Defects |
|
CDDs |
Congenital Diaphragmatic Defects |
|
CDH |
Congenital Diaphragmatic Hernia |
|
CdLS |
Cornelia De Lange Syndrome |
|
CDS |
Caudal Dysplasia Sequence |
|
CE |
Coelomic Epithelium |
|
CEA |
Collie Eye Anomaly |
|
CEL |
Chronic Eosinophilic Leukemia |
|
CEMA |
Chronic enteroviral meningoencephalitis with agammaglobulinemia |
|
CEP |
Congenital Erythropoietic Porphyria |
|
CEPH |
Centre Etude Polymorphism Humain |
|
CES |
Cat Eye Syndrome |
|
CESD |
Cholesterol Ester Storage Disease |
|
CEST |
Childhood Endodermal Sinus Tumors |
|
CF |
Cystic Fibrosis |
|
CF |
Chondromyxoid Fibroma |
|
CFF |
Cystic Fibrosis Factor |
|
CFS |
Cancer Family Syndrome |
|
CFS |
congenital fibrosis syndromes |
|
CFTD |
Congenital Fiber-Type Disproportion |
|
CGAP |
Cancer Genome Anatomy Project |
|
CGD |
Chronic Granulomatous Disease |
|
CGH |
Congenital Generalized Hypertrichosis |
|
CGI |
Clinical Global Impression |
|
CGKD |
Complex Glycerol Kinase Deficiency |
|
CGL |
Congenital Generalized Lipodystrophy |
|
CGL |
Candidate Gene Loci |
|
CGL |
Chronic Granulocytic Leukemia |
|
cGVHD |
Chronic Graft Versus Host Disease |
|
CH |
Chronic Hepatitis |
|
CH |
congenital hypothyroidism |
|
CH |
Cerebellar Hemangioblastoma |
|
CH |
Cluster Headache |
|
CH |
cystic hygroma |
|
CH |
Congenital Hydronephrosis |
|
CH |
congenital hydrocephalus |
|
CHA |
Congenital Hypoplastic Anemia |
|
CHB |
Chronic Hepatitis B |
|
CHB |
congenital heart block |
|
CHC |
Chronic Hepatitis C |
|
CHD |
Coronary Heart Disease |
|
CHD |
Congenital Heart Defect |
|
CHD |
Congenital Heart Disease |
|
CHDH |
Congenital Heart Disease History |
|
CHDs |
Congenital Heart Disorders |
|
CHDs |
Conotruncal Heart Defects |
|
CHED |
Congenital Heredity Endothelial Dystrophy |
|
CHF |
Congestive Heart Failure |
|
CHI |
Congenital Hydrocephalus Internus |
|
CHL |
Classic Hodgkin Lymphoma |
|
CHM |
Congenital Heart Malformation |
|
CHN |
Chinese Herb Nephropathy |
|
CHR |
Complete Hematologic Remission |
|
CHR |
complete hematologic response |
|
Ci |
Coccidioides immitis |
|
CI |
Cerebral Infarction |
|
CI |
cardiac involvement |
|
CIBD |
Chronic Inflammatory Bowel Disease |
|
CID |
Combined Immunodeficiency Disease |
|
CID |
Combined Immune Deficiency |
|
CIDP |
Chronic inflammatory demyelinating polyneuropathy |
|
CIIP |
Chronic Idiopathic Intestinal Pseudoobstruction |
|
CIN |
Conjunctival Intraepithelial Neoplasia |
|
CIN |
Cervical Intraepithelial Neoplasia |
|
CIN |
Chronic Idiopathic Neutropenia |
|
CIPA |
Carcinomas In Pleomorphic Adenoma |
|
CIPD |
Chronic Inflammatory Proliferative Diseases |
|
CIPO |
Chronic Intestinal Pseudoobstruction with myopathy and Ophthalmoplegia |
|
CIS |
Carcinoma in Situ |
|
CISs |
Chromosome Instability Syndromes |
|
CK |
Cervical Keratinocytes |
|
CL |
cystic lymphangioma |
|
CL |
Cirrhotic Liver |
|
CL |
Congenital Leukaemia |
|
CL |
Cleft Lip |
|
CLAH |
Congenital Lipoid Adrenal Hyperplasia |
|
CLD |
Chronic Lymphoproliferative Disorder |
|
CLD |
Cholestatic Liver Disease |
|
CLD |
combined lipase deficiency |
|
CLD |
Chronic Lung Disease |
|
CLD |
Congenital Lactase Deficiency |
|
CLD |
Chronic Liver Disease |
|
CLH |
Cutaneous Lymphoid Hyperplasia |
|
CLI |
Central Lymphatic Irradiation |
|
CLL |
Chronic Lymphoid Leukaemia |
|
CLP |
Cleft lip palates |
|
CM |
complete mole |
|
CM |
cutaneous melanoma |
|
Cm |
Cardiac Myxoma |
|
Cm |
Coloboma Mutation |
|
CM |
Clinically Malignant |
|
CM |
Capillary malformation |
|
CM |
Congenital Malformations |
|
CMC |
Chronic Mucocutaneous Candidiases |
|
CMCA |
Clonal Marrow Cytogenetic Abnormalities |
|
CMD |
Cartilage Matrix Deficiency |
|
CMD |
Congenital Myotonic Dystrophy |
|
CMD |
Chronic Myeloproliferative Disorders |
|
CMD |
Chronic Myeloid Disorders |
|
CME |
Cystoid Macular Edema |
|
CMGM |
Chronic Megakaryocytic Granulocytic Myelosis |
|
CMGM |
chronic megakaryocytic granulocytic metaplasia |
|
CML |
Chronic Myeloid Leukemia |
|
CML |
cutaneous malignant lymphomas |
|
CML |
Chronic Myeloctyic Leukemia |
|
CML |
Chronic Myelogenic Leukemia |
|
CPEO |
Chronic Progressive External Ophthalmoplegia |
|
DEMCHO |
Dementia and Chorea |
|
DIDMOAD |
Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, Deafness |
|
DMDF |
Diabetes Mellitus and Deafness |
|
DSH |
Deliberate Self-Harm |
|
ESOC |
Epilepsy, Strokes, Optic atrophy and Cognitive decline |
|
FBSN |
Familial Bilateral Striatal Necrosis |
|
FICP |
Fatal Infantile Cardiomyopathy Plus |
|
KSS |
Keams Sayre Syndrome |
|
LDYT |
Leber's hereditary optic neuropathy and DYsTonia |
|
LEVIM |
Lethal Infantile Mitochondrial Myopathy |
|
Lhon |
Leber Hereditary Optic Neuropathy |
|
MDM |
Myopathy and Diabetes Mellitus |
|
MELAS |
Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like episodes |
|
MEPR |
Myoclonic Epilepsy and Psychomotor Regression |
|
MERRF |
Myoclonic Epilepsy and Ragged Red Muscle Fibers |
|
MHCM |
Maternally Inherited Hypertrophic CardioMyopathy |
|
MICM |
Maternally Inherited Cardiomyopathy |
|
MILS |
Maternally Inherited Leigh Syndrome |
|
MM |
Mitochondrial myopathy |
|
MMC |
Maternal Myopathy and Cardiomyopathy |
|
MNGIE |
Myopathy and external ophthalmoplegia, Neuropathy, Gastro-Intestinal, Encephalopathy |
|
narp |
neurogenic muscle weakness, ataxia and retinitis pigmentosa |
|
PD |
Parkinson's Disease |
|
PDH |
Pyruvate DeHydrogenase |
|
PDH |
anti-pyruvate dehydrogenase |
|
PEM |
Progressive Encephalopathy |
|
PEO |
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA |
|
PME |
Progressive Myoclonus Epilepsy |
|
PMPS |
Pearson Marrow-Pancreas Syndrome |
|
RBD |
Rare Bleeding Disorders |
|
SH |
Self-Harm |
|
SI |
Self-Injury |
|
SIB |
Self-injurious behaviour |
|
SIDS |
Sudden Infant Death Syndrome |
|
SIV |
Self-Inflicted Violence |
|
SNHL |
Sensorineural Hearing Loss |
|