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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 |
|---|---|---|---|---|
| Osteogenesis Imperfecta COLLAGEN DISEASES characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperf… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050054 |
| Osteopetrosis Excessive formation of dense trabecular bone leading to pathological fractures; OSTEITIS; SPLENOMEGALY with infarct; ANEMIA; and extramedullary hemop… | Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050057 |
| Osteopoikilosis An asymptomatic, autosomal dominant trait in which pea-sized sclerotic spots, prominent in the metaphyseal area, are accompanied by unique cutaneous … | Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050058 |
| Osteosclerosis An abnormal hardening or increased density of bone tissue. | Degenerative Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050055 |
| Pachyonychia Congenita A group of inherited ectodermal dysplasias whose most prominent clinical feature is hypertrophic nail dystrophy resulting in PACHYONYCHIA. Several sp… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160014 |
| Papillon-Lefevre Disease Rare, autosomal recessive disorder occurring between the first and fifth years of life. It is characterized by palmoplantar keratoderma with periodon… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160151 |
| Paralyses, Familial Periodic A heterogenous group of inherited disorders characterized by recurring attacks of rapidly progressive flaccid paralysis or myotonia. These conditions… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050291 |
| Paralysis, Hyperkalemic Periodic An autosomal dominant familial disorder which presents in infancy or childhood and is characterized by episodes of weakness associated with hyperkale… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050293 |
| Pectus Carinatum A developmental anomaly characterized by abnormal anterior protrusion of the STERNUM and adjacent COSTAL CARTILAGE. | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050063 |
| Pemphigus, Benign Familial An autosomal dominantly inherited skin disorder characterized by recurrent eruptions of vesicles and BULLAE mainly on the neck, axillae, and groin. M… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160153 |
| Peroxisomal Disorders A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be sing… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160132 |
| Philadelphia Chromosome An aberrant form of human CHROMOSOME 22 characterized by translocation of the distal end of chromosome 9 from 9q34, to the long arm of chromosome 22 … | Pathologic Condition | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:230072 |
| Piebaldism Autosomal dominant, congenital disorder characterized by localized hypomelanosis of the skin and hair. The most familiar feature is a white forelock … | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160057 |
| Plagiocephaly The condition characterized by uneven or irregular shape of the head often in parallelogram shape with a flat spot on the back or one side of the hea… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050322 |
| Plagiocephaly, Nonsynostotic A deformity of the SKULL that is not due to bone fusion (SYNOSTOSIS), such as craniosynostoses, and is characterized by an asymmetric skull and face.… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050323 |
| Platybasia A developmental deformity of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occi… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050064 |
| Polydactyly A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits. | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050332 |
| Polyploidy The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol… | Pathologic Condition | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:230066 |
| Porokeratosis A heritable disorder of faulty keratinization characterized by the proliferation of abnormal clones of KERATINOCYTES and lesions showing varying atro… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160154 |
| Porphyria, Erythropoietic An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital erythropoi… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160155 |
| Primary Immunodeficiency Diseases Genetic immunologic deficiency diseases and syndromes due to mutations in genes involved in IMMUNITY generally characterized by an increased suscepti… | Immune Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160138 |
| Progeria An abnormal congenital condition, associated with defects in the LAMIN TYPE A gene, which is characterized by premature aging in children, where all … | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160070 |
| Prognathism A condition marked by abnormal protrusion of the mandible. (Dorland, 27th ed) | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050177 |
| Prolidase Deficiency Rare autosomal recessive disorder of metabolism due to mutations in the prolidase gene. It is characterized by recurrent lower extremity skin ulcers,… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160018 |
| Propionic Acidemia Autosomal recessive metabolic disorder caused by mutations in PROPIONYL-COA CARBOXYLASE genes that result in dysfunction of branch chain amino acids … | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160079 |
| Prune Belly Syndrome A syndrome characterized by abdominal wall musculature deficiency, cryptorchism, and urinary tract abnormalities. The syndrome derives its name from … | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160019 |
| Pseudohypoparathyroidism A hereditary syndrome clinically similar to HYPOPARATHYROIDISM. It is characterized by HYPOCALCEMIA; HYPERPHOSPHATEMIA; and associated skeletal devel… | Metabolic Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050074 |
| Pseudopseudohypoparathyroidism A form of PSEUDOHYPOPARATHYROIDISM characterized by the same features except for the abnormal response to hormones such as PARATHYROID HORMONE. It is… | Metabolic Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050075 |
| Purine-Pyrimidine Metabolism, Inborn Errors Dysfunctions in the metabolism of PURINES or PYRIMIDINES resulting from inborn genetic mutations that are inherited or acquired in utero. | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160134 |
| Pycnodysostosis Rare autosomal recessive syndrome characterized by delayed closing of CRANIAL SUTURES, short stature, ACRO-OSTEOLYSIS of distal phalanges, dental and… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050059 |