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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 |
|---|---|---|---|---|
| Craniosynostoses Premature closure of one or more CRANIAL SUTURES. It often results in plagiocephaly. Craniosynostoses that involve multiple sutures are sometimes ass… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050027 |
| Crigler-Najjar Syndrome A familial form of congenital hyperbilirubinemia transmitted as an autosomal recessive trait. It is characterized by icterus and brain damage caused … | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160105 |
| Cryopyrin-Associated Periodic Syndromes A group of rare autosomal dominant diseases, commonly characterized by atypical URTICARIA (hives) with systemic symptoms that develop into end-organ … | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160064 |
| Cutis Laxa A group of connective tissue diseases in which skin hangs in loose pendulous folds. It is believed to be associated with decreased elastic tissue for… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160143 |
| Cystinosis A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosi… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160128 |
| Cytochrome-c Oxidase Deficiency A disease that results from a congenital defect in ELECTRON TRANSPORT COMPLEX IV. Defects in ELECTRON TRANSPORT COMPLEX IV can be caused by mutations… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160103 |
| Darier Disease An autosomal dominantly inherited skin disorder characterized by warty malodorous papules that coalesce into plaques. It is caused by mutations in th… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160144 |
| Dentofacial Deformities An abnormality of the jaws or teeth affecting the contour of the face. Such abnormality could be acquired or congenital. | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050318 |
| Dermatitis, Atopic A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to … | Inflammatory Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160145 |
| Developmental Dysplasia of the Hip Dislocation of the HIP JOINT from an abnormal FEMORAL HEAD to the ACETABULUM relationship. It is most often due to ligamentous laxity, abnormal posit… | Pathologic Condition | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050232 |
| DiGeorge Syndrome Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cel… | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050309 |
| Dihydropyrimidine Dehydrogenase Deficiency An autosomal recessive disorder affecting DIHYDROPYRIMIDINE DEHYDROGENASE and causing familial pyrimidinemia. It is characterized by thymine-uracilur… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160135 |
| Disorder of Sex Development, 46,XY Congenital conditions in individuals with a male karyotype, in which the development of the gonadal or anatomical sex is atypical. | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:120069 |
| Disorders of Sex Development In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Effects from exposure … | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:120062 |
| Distal Myopathies A heterogeneous group of genetic disorders characterized by progressive MUSCULAR ATROPHY and MUSCLE WEAKNESS beginning in the hands, the legs, or the… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050265 |
| DNA Repair-Deficiency Disorders Disorders resulting from defective DNA REPAIR processes or the associated cellular responses to DNA DAMAGE. | Metabolic Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:180016 |
| Donohue Syndrome Rare autosomal recessive syndrome of extreme insulin resistance due to mutations in the binding domain of INSULIN RECEPTOR. Clinical features include… | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050311 |
| Dwarfism A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050006 |
| Ectodermal Dysplasia A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnor… | Pathologic Condition | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160009 |
| Ectodermal Dysplasia 1, Anhidrotic An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ECTODYSPLASIN. | Pathologic Condition | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160010 |
| Ectodermal Dysplasia 3, Anhidrotic An autosomal dominant form of ectodermal dysplasia which is due to mutations in the gene for the EDAR RECEPTOR. | Pathologic Condition | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160011 |
| Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive An autosomal recessive form of ectodermal dysplasia which is due to mutations in the gene for the EDAR RECEPTOR or EDAR-ASSOCIATED DEATH DOMAIN PROTE… | Pathologic Condition | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160012 |
| Ectromelia Gross hypo- or aplasia of one or more long bones of one or more limbs. The concept includes amelia, hemimelia, phocomelia, and sirenomelia. | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050330 |
| Ellis-Van Creveld Syndrome Dwarfism occurring in association with defective development of skin, hair, and teeth, polydactyly, and defect of the cardiac septum. (Dorland, 27th … | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050043 |
| Enchondromatosis Benign growths of cartilage in the metaphyses of several bones. | Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050044 |
| Epidermolysis Bullosa Group of genetically determined disorders characterized by the blistering of skin and mucosae. There are four major forms: acquired, simple, junction… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160037 |
| Epidermolysis Bullosa Dystrophica Form of epidermolysis bullosa characterized by atrophy of blistered areas, severe scarring, and nail changes. It is most often present at birth or in… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160039 |
| Epidermolysis Bullosa Simplex A form of epidermolysis bullosa characterized by serous bullae that heal without scarring. Mutations in the genes that encode KERATIN-5 and KERATIN-1… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160041 |
| Epidermolysis Bullosa, Junctional Form of epidermolysis bullosa having onset at birth or during the neonatal period and transmitted through autosomal recessive inheritance. It is char… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160040 |
| Equinus Deformity Plantar declination of the foot. | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050155 |