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Browse canonical concepts by label, domain, node type, prefix and encoded class.
Current membership scope: Any direct membership
| Concept | Node type | Base domain | Matched membership | Identifier |
|---|---|---|---|---|
| LEOPARD Syndrome An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abnormalities; ocular HYPERTELORISM; PULMONARY STENO… | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050313 |
| Leukocyte-Adhesion Deficiency Syndrome Rare, autosomal recessive disorder caused by deficiency of the beta 2 integrin receptors (RECEPTORS, LEUKOCYTE-ADHESION) comprising the CD11/CD18 fam… | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160140 |
| Leukokeratosis, Hereditary Mucosal An autosomal dominant disorder that is manifested by thickened spongiform ORAL MUCOSA with a white opalescent tint. Other MUCOSAL TISSUE may also be … | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160152 |
| Limb Deformities, Congenital Congenital structural deformities of the upper and lower extremities collectively or unspecified. | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050327 |
| Lingual Goiter Pathological enlargement of the LINGUAL THYROID, ectopic thyroid tissue at the base of the TONGUE. It may cause upper AIRWAY OBSTRUCTION; DYSPHAGIA; … | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160055 |
| Lingual Thyroid A condition characterized by the presence of rudimentary THYROID tissue at the base of the TONGUE. It is due to failed embryonic development and migr… | Metabolic Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160054 |
| Lipid Metabolism, Inborn Errors Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable. | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160108 |
| Lipidoses Conditions characterized by abnormal lipid deposition due to disturbance in lipid metabolism, such as hereditary diseases involving lysosomal enzymes… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160121 |
| Lipodystrophy, Congenital Generalized Congenital disorders, usually autosomal recessive, characterized by severe generalized lack of ADIPOSE TISSUE, extreme INSULIN RESISTANCE, and HYPERT… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160124 |
| Lipodystrophy, Familial Partial Inherited conditions characterized by the partial loss of ADIPOSE TISSUE, either confined to the extremities with normal or increased fat deposits on… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160069 |
| Loeys-Dietz Syndrome An autosomal dominant aneurysm with multisystem abnormalities caused by increased TGF-BETA signaling due to mutations in type I or II of TGF-BETA REC… | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050314 |
| Lower Extremity Deformities, Congenital Congenital structural abnormalities of the LOWER EXTREMITY. | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050331 |
| Lysosomal Storage Diseases Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized su… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160126 |
| Mandibulofacial Dysostosis A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by a slant of the palpebral fissures, COL… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050019 |
| Mannosidase Deficiency Diseases Diseases caused by the loss of one or more enzymes involved in the hydrolysis of mannoside linkages (MANNOSIDASES). The defects in enzyme activity ar… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160093 |
| Marfan Syndrome An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations inc… | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050036 |
| Megalencephaly A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is ass… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050315 |
| Melorheostosis A form of osteosclerosis extending in a linear track mainly through one of the long bones of the upper and lower limbs. | Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050056 |
| Metabolism, Inborn Errors Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160071 |
| Metal Metabolism, Inborn Errors Dysfunctions in the metabolism of metals resulting from inborn genetic mutations that are inherited or acquired in utero. | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160129 |
| Microcephaly A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Referen… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050319 |
| Micrognathism Abnormally small jaw. | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050175 |
| Micronuclei, Chromosome-Defective Defective nuclei produced during the TELOPHASE of MITOSIS or MEIOSIS by lagging CHROMOSOMES or chromosome fragments derived from spontaneous or exper… | Pathologic Condition | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:230063 |
| Microsatellite Instability The occurrence of highly polymorphic mono- and dinucleotide MICROSATELLITE REPEATS in somatic cells. It is a form of genome instability associated wi… | Pathologic Condition | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:230135 |
| Mineralocorticoid Excess Syndrome, Apparent A hereditary disease characterized by childhood onset HYPERTENSION, hypokalemic alkalosis, and low RENIN and ALDOSTERONE secretion. It results from a… | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160137 |
| Mitochondrial Diseases Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear … | Metabolic Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:180047 |
| Mitochondrial Encephalomyopathies A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. Thes… | Metabolic Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050253 |
| Mitochondrial Myopathies A group of muscle diseases associated with abnormal mitochondria function. | Metabolic Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050252 |
| Monilethrix Rare autosomal dominant disorder of the hair shaft. The clinical features of the disease include HYPOTRICHOSIS, dry, and/or brittle hair, with varyin… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160016 |
| Monosomy The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1. | Pathologic Condition | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:230052 |