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Browse canonical concepts by label, domain, node type, prefix and encoded class.
Current membership scope: Domain and all descendants
| Concept | Node type | Base domain | Matched membership | Identifier |
|---|---|---|---|---|
| 22q11 Deletion Syndrome Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes wi… | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050308 |
| 46, XX Disorders of Sex Development Congenital conditions in individuals with a female karyotype, in which the development of the gonadal or anatomical sex is atypical. | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:120063 |
| Abetalipoproteinemia An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the tran… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160120 |
| Abnormal Karyotype A variation from the normal set of chromosomes characteristic of a species. | Pathologic Condition | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:230049 |
| Abnormalities, Multiple Congenital abnormalities that affect more than one organ or body structure. | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160004 |
| Abnormalities, Severe Teratoid Marked developmental anomalies of a fetus or infant. | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160026 |
| Acatalasia A rare autosomal recessive disorder resulting from the absence of CATALASE activity. Though usually asymptomatic, a syndrome of oral ulcerations and … | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160133 |
| Achondroplasia An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050007 |
| Acquired Hyperostosis Syndrome Syndrome consisting of SYNOVITIS; ACNE CONGLOBATA; PALMOPLANTAR PUSTULOSIS; HYPEROSTOSIS; and OSTEITIS. The most common site of the disease is the up… | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050038 |
| Acrocephalosyndactylia Congenital craniostenosis with syndactyly. | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050028 |
| Adrenogenital Syndrome Abnormal SEX DIFFERENTIATION or congenital DISORDERS OF SEX DEVELOPMENT caused by abnormal levels of steroid hormones expressed by the GONADS or the … | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:120067 |
| Aging, Premature Changes in the organism associated with senescence, occurring at an accelerated rate. | Pathologic Condition | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:230220 |
| Alkaptonuria An inborn error of amino acid metabolism resulting from a defect in the enzyme HOMOGENTISATE 1,2-DIOXYGENASE, an enzyme involved in the breakdown of … | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160073 |
| alpha-Mannosidosis An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of man… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160094 |
| Amino Acid Metabolism, Inborn Errors Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbanc… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160072 |
| Amino Acid Transport Disorders, Inborn Disorders characterized by defective transport of amino acids across cell membranes. These include deficits in transport across brush-border epitheli… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160080 |
| Amniotic Band Syndrome A disorder present in the newborn infant in which constriction rings or bands, causing soft tissue depressions, encircle digits, extremities, or limb… | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160159 |
| Amyloidosis, Familial Diseases in which there is a familial pattern of AMYLOIDOSIS. | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160081 |
| Androgen-Insensitivity Syndrome A disorder of sexual development transmitted as an X-linked recessive trait. These patients have a karyotype of 46,XY with end-organ resistance to an… | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:120070 |
| Aneuploidy The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fr… | Pathologic Condition | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:230051 |
| Anticipation, Genetic The apparent tendency of certain diseases to appear at earlier AGE OF ONSET and with increasing severity in successive generations. (Rieger et al., G… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:230108 |
| Antley-Bixler Syndrome Phenotype An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYN… | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050026 |
| Arachnodactyly An abnormal bone development that is characterized by extra long and slender hands and fingers, such that the clenched thumb extends beyond the ulnar… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050328 |
| Arthrogryposis Persistent flexure or contracture of a joint. | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050211 |
| Aspartylglucosaminuria A recessively inherited, progressive lysosomal storage disease caused by a deficiency of GLYCOSYLASPARAGINASE activity. The lack of this enzyme activ… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160127 |
| Autosomal Emery-Dreifuss Muscular Dystrophy Emery-Dreifuss muscular dystrophy associated with mutations on LAMINS (LMNA gene). | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050271 |
| Beckwith-Wiedemann Syndrome A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visce… | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160005 |
| beta-Mannosidosis An inborn error of metabolism marked by a defect in the lysosomal isoform of BETA-MANNOSIDASE that results in lysosomal accumulation of mannose-rich … | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160095 |
| Biotinidase Deficiency The late onset form of MULTIPLE CARBOXYLASE DEFICIENCY (deficiency of the activities of biotin-dependent enzymes propionyl-CoA carboxylase, methylcro… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160077 |
| Bloom Syndrome An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predi… | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160006 |