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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 |
|---|---|---|---|---|
| Erythrokeratodermia Variabilis An autosomal dominant skin disease characterized by transient and variable noninflammatory ERYTHEMA and hyperkeratosis. It has been associated with m… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160146 |
| Familial Hypophosphatemic Rickets A hereditary disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; renal defects in phosphate reabsorption and vitamin D metabolism; and… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050080 |
| Familial Multiple Lipomatosis A rare autosomal disorder characterized by numerous encapsulated lipomas on the trunk and extremities. The lipomas are usually not painful but can ca… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160058 |
| Fetus-in-Fetu Rare abnormality where a fetal part of an identical twin that stopped developing during gestation is found within a normally developing fetus. It is … | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160028 |
| Fibrous Dysplasia of Bone A disease of bone marked by thinning of the cortex by fibrous tissue containing bony spicules, producing pain, disability, and gradually increasing d… | Pathologic Condition | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050045 |
| Fibrous Dysplasia, Monostotic FIBROUS DYSPLASIA OF BONE involving only one bone. | Pathologic Condition | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050048 |
| Fibrous Dysplasia, Polyostotic FIBROUS DYSPLASIA OF BONE affecting several bones. When melanotic pigmentation (CAFE-AU-LAIT SPOTS) and multiple endocrine hyperfunction are addition… | Pathologic Condition | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050049 |
| Flatfoot Anomaly in which one or more of the arches of the feet are flat. | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050156 |
| Focal Dermal Hypoplasia A genetic skin disease characterized by hypoplasia of the dermis, herniations of fat, and hand anomalies. It is found exclusively in females and tran… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050021 |
| Focal Facial Dermal Dysplasias A heterogenous group of genetic disorders characterized by scar-like atrophic lesions on the temple region of the head including preauricular area. L… | Pathologic Condition | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160013 |
| Foot Deformities, Congenital Alterations or deviations from normal shape or size which result in a disfigurement of the foot occurring at or before birth. | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050158 |
| Fraser Syndrome Rare autosomal recessive congenital malformation syndrome characterized by cryptophthalmos, SYNDACTYLY and UROGENITAL ABNORMALITIES. Other anomalies … | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050030 |
| Fructose Intolerance An autosomal recessive fructose metabolism disorder due to deficient fructose-1-phosphate aldolase (EC 2.1.2.13) activity, resulting in accumulation … | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160086 |
| Fructose Metabolism, Inborn Errors Inherited abnormalities of fructose metabolism, which include three known autosomal recessive types: hepatic fructokinase deficiency (essential fruct… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160084 |
| Fructose-1,6-Diphosphatase Deficiency An autosomal recessive fructose metabolism disorder due to absent or deficient fructose-1,6-diphosphatase activity. Gluconeogenesis is impaired, resu… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160085 |
| Funnel Chest A developmental anomaly in which the lower sternum is posteriorly dislocated and concavely deformed, resulting in a funnel-shaped thorax. | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050033 |
| Genetic Diseases, Inborn Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations … | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160056 |
| Genetic Diseases, X-Linked Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160059 |
| Genetic Diseases, Y-Linked Genetic diseases that are linked to mutant ALLELES on the Y CHROMOSOME in humans (Y CHROMOSOME, HUMAN) or the Y chromosome in other species. Included… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160062 |
| Genetic Predisposition to Disease The concept is an etiological susceptibility/risk factor rather than a disease. | Risk Factor | Clinical Medicine | Clinical Genetics [curated_secondary] | AMW:RISK:145015 |
| Genetic Risk Score The concept is a quantitative genetic/population parameter, not a congenital disorder. | Parameter | Physiology | Clinical Genetics [curated_secondary] | AMW:PARAM:210009 |
| Genomic Instability An increased tendency of the GENOME to acquire MUTATIONS when various processes involved in maintaining and replicating the genome are dysfunctional. | Pathologic Condition | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:230134 |
| Gilbert Disease A benign familial disorder, transmitted as an autosomal dominant trait. It is characterized by low-grade chronic hyperbilirubinemia with considerable… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160106 |
| Glycogen Storage Disease A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160087 |
| Glycogen Storage Disease Type I An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose producti… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160088 |
| Glycogen Storage Disease Type III An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). … | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160089 |
| Glycogen Storage Disease Type IV An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransfer… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160090 |
| Glycogen Storage Disease Type V Glycogenosis due to muscle phosphorylase deficiency. Characterized by painful cramps following sustained exercise. | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160091 |
| Glycogen Storage Disease Type VI A hepatic GLYCOGEN STORAGE DISEASE in which there is an apparent deficiency of hepatic phosphorylase (GLYCOGEN PHOSPHORYLASE, LIVER FORM) activity. | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160092 |
| Glycogen Storage Disease Type VII An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (PHOSPHOFRUCTOKINASE-1… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050266 |