Public registry
Nodes
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 |
|---|---|---|---|---|
| Mucolipidoses A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or gly… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050071 |
| Mucopolysaccharidoses Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysa… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160096 |
| Mucopolysaccharidosis I A group of autosomal recessive lysosomal storage disorders caused by mutations in the gene encoding the enzyme, alpha-L-iduronidase (IDUA), required … | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160097 |
| Mucopolysaccharidosis III Mucopolysaccharidosis characterized by HEPARAN SULFATE in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders. The… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160098 |
| Mucopolysaccharidosis IV Genetic disorder of mucopolysaccharide metabolism characterized by skeletal abnormalities, joint instability, development of cervical myelopathy, and… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160099 |
| Mucopolysaccharidosis VI Mucopolysaccharidosis with excessive CHONDROITIN SULFATE B in urine, characterized by dwarfism and deafness. It is caused by a deficiency of N-ACETYL… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160100 |
| Mucopolysaccharidosis VII Mucopolysaccharidosis characterized by excessive dermatan and heparan sulfates in the urine and Hurler-like features. It is caused by a deficiency of… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160101 |
| Mulibrey Nanism Growth failure from birth that is due to mutations in a gene (TRIM37) on chromosome 17q22-q23 which encodes a RING-B-box-coiled-coil protein. | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050013 |
| Multiple Acyl Coenzyme A Dehydrogenase Deficiency An autosomal recessive disorder of fatty acid oxidation, and branched chain amino acids (AMINO ACIDS, BRANCHED-CHAIN); LYSINE; and CHOLINE catabolism… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160075 |
| Multiple Carboxylase Deficiency A deficiency in the activities of biotin-dependent enzymes (propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due … | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160076 |
| Muscular Dystrophies A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUS… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050264 |
| Muscular Dystrophies, Limb-Girdle A heterogenous group of inherited muscular dystrophy that can be autosomal dominant or autosomal recessive. There are many forms (called LGMDs) invol… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050267 |
| Muscular Dystrophy, Duchenne An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcole… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050269 |
| Muscular Dystrophy, Emery-Dreifuss A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUS… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050270 |
| Muscular Dystrophy, Facioscapulohumeral An autosomal dominant degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder gi… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050273 |
| Muscular Dystrophy, Oculopharyngeal An autosomal dominant hereditary disease that presents in late in life and is characterized by DYSPHAGIA and progressive ptosis of the eyelids. Mutat… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050274 |
| Musculoskeletal Abnormalities Congenital structural abnormalities and deformities of the musculoskeletal system. | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050305 |
| Myopathies, Structural, Congenital A heterogeneous group of diseases characterized by the early onset of hypotonia, developmental delay of motor skills, non-progressive weakness. Each … | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050279 |
| Myotonia Congenita Inherited myotonic disorders with early childhood onset MYOTONIA. Muscular hypertrophy is common and myotonia may impair ambulation and other movemen… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050289 |
| Myotonic Dystrophy Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may a… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050275 |
| Nail-Patella Syndrome A syndrome of multiple abnormalities characterized by the absence or hypoplasia of the PATELLA and congenital nail dystrophy. It is a genetically det… | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050238 |
| Netherton Syndrome Rare autosomal recessive disease with variable expressions. Clinical features of the disease include variable ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL;… | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160017 |
| Nijmegen Breakage Syndrome A chromosome instability syndrome resulting from a defective response to DNA double-strand breaks. In addition to characteristic FACIES and MICROCEPH… | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:180017 |
| Nondisjunction, Genetic The failure of homologous CHROMOSOMES or CHROMATIDS to segregate during MITOSIS or MEIOSIS with the result that one daughter cell has both of a pair … | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:230064 |
| Noonan Syndrome A genetically heterogeneous, multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormon… | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050321 |
| OEIS Complex A combination of defects comprising OMPHALOCELE, exstrophy of the cloaca, ANUS IMPERFORATE, and spinal defects. This rare complex is thought to repre… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160169 |
| Omphalocele A congenital defect with major fissure in the ABDOMINAL WALL at the UMBILICUS resulting in the extrusion of VISCERA through the UMBILICUS. Unlike GAS… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160032 |
| Orofaciodigital Syndromes Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-li… | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050023 |
| Osteoarthropathy, Primary Hypertrophic A condition chiefly characterized by thickening of the skin of the head and distal extremities, deep folds and furrows of the skin of the forehead, c… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050104 |
| Osteochondrodysplasias Abnormal development of cartilage and bone. | Pathologic Condition | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050037 |