CUI1 stringlengths 8 8 | RELA stringlengths 3 54 | CUI2 stringlengths 8 8 | Name1 stringlengths 1 2.86k ⌀ | Name2 stringlengths 1 2.86k ⌀ | Def1 stringlengths 1 8.95k ⌀ | Def2 stringlengths 1 8.95k ⌀ |
|---|---|---|---|---|---|---|
C0000741 | has_indirect_procedure_site | C5682965 | Abducens nerve structure | drainage of abducens nerve | The 6th cranial nerve which originates in the ABDUCENS NUCLEUS of the PONS and sends motor fibers to the lateral rectus muscles of the EYE. Damage to the nerve or its nucleus disrupts horizontal eye movement control. | null |
C0000741 | has_indirect_procedure_site | C5683258 | Abducens nerve structure | extirpation of matter from abducens nerve | The 6th cranial nerve which originates in the ABDUCENS NUCLEUS of the PONS and sends motor fibers to the lateral rectus muscles of the EYE. Damage to the nerve or its nucleus disrupts horizontal eye movement control. | null |
C0000741 | has_direct_procedure_site | C5684367 | Abducens nerve structure | partial excision of abducens nerve | The 6th cranial nerve which originates in the ABDUCENS NUCLEUS of the PONS and sends motor fibers to the lateral rectus muscles of the EYE. Damage to the nerve or its nucleus disrupts horizontal eye movement control. | null |
C0000741 | has_direct_procedure_site | C5685774 | Abducens nerve structure | transection of abducens nerve | The 6th cranial nerve which originates in the ABDUCENS NUCLEUS of the PONS and sends motor fibers to the lateral rectus muscles of the EYE. Damage to the nerve or its nucleus disrupts horizontal eye movement control. | null |
C0000741 | has_finding_site | C5761239 | Abducens nerve structure | Nuclear abducens nerve palsy | The 6th cranial nerve which originates in the ABDUCENS NUCLEUS of the PONS and sends motor fibers to the lateral rectus muscles of the EYE. Damage to the nerve or its nucleus disrupts horizontal eye movement control. | null |
C0000741 | has_finding_site | C5767483 | Abducens nerve structure | Pseudo-abducens palsy | The 6th cranial nerve which originates in the ABDUCENS NUCLEUS of the PONS and sends motor fibers to the lateral rectus muscles of the EYE. Damage to the nerve or its nucleus disrupts horizontal eye movement control. | null |
C0000741 | has_direct_procedure_site | C5779331 | Abducens nerve structure | supplement abducens nerve | The 6th cranial nerve which originates in the ABDUCENS NUCLEUS of the PONS and sends motor fibers to the lateral rectus muscles of the EYE. Damage to the nerve or its nucleus disrupts horizontal eye movement control. | null |
C0000741 | has_direct_procedure_site | C5875513 | Abducens nerve structure | destruction of abducens nerve | The 6th cranial nerve which originates in the ABDUCENS NUCLEUS of the PONS and sends motor fibers to the lateral rectus muscles of the EYE. Damage to the nerve or its nucleus disrupts horizontal eye movement control. | null |
C0000741 | has_direct_procedure_site | C5876098 | Abducens nerve structure | extraction of abducens nerve | The 6th cranial nerve which originates in the ABDUCENS NUCLEUS of the PONS and sends motor fibers to the lateral rectus muscles of the EYE. Damage to the nerve or its nucleus disrupts horizontal eye movement control. | null |
C0000741 | has_direct_procedure_site | C5877797 | Abducens nerve structure | replacement of abducens nerve | The 6th cranial nerve which originates in the ABDUCENS NUCLEUS of the PONS and sends motor fibers to the lateral rectus muscles of the EYE. Damage to the nerve or its nucleus disrupts horizontal eye movement control. | null |
C0000741 | has_direct_procedure_site | C5877885 | Abducens nerve structure | reposition of abducens nerve | The 6th cranial nerve which originates in the ABDUCENS NUCLEUS of the PONS and sends motor fibers to the lateral rectus muscles of the EYE. Damage to the nerve or its nucleus disrupts horizontal eye movement control. | null |
C0000741 | has_direct_procedure_site | C5878489 | Abducens nerve structure | transfer of abducens nerve | The 6th cranial nerve which originates in the ABDUCENS NUCLEUS of the PONS and sends motor fibers to the lateral rectus muscles of the EYE. Damage to the nerve or its nucleus disrupts horizontal eye movement control. | null |
C0000741 | has_member | C0935580 | Abducens nerve structure | Neuroanatomy (PsycINFO Subcluster Term) | The 6th cranial nerve which originates in the ABDUCENS NUCLEUS of the PONS and sends motor fibers to the lateral rectus muscles of the EYE. Damage to the nerve or its nucleus disrupts horizontal eye movement control. | null |
C0000741 | inverse_isa | C0010268 | Abducens nerve structure | Cranial Nerves | The 6th cranial nerve which originates in the ABDUCENS NUCLEUS of the PONS and sends motor fibers to the lateral rectus muscles of the EYE. Damage to the nerve or its nucleus disrupts horizontal eye movement control. | Twelve pairs of nerves that carry general afferent, visceral afferent, special afferent, somatic efferent, and autonomic efferent fibers. |
C0000741 | has_physical_part_of_anatomic_structure | C0027763 | Abducens nerve structure | Nervous system structure | The 6th cranial nerve which originates in the ABDUCENS NUCLEUS of the PONS and sends motor fibers to the lateral rectus muscles of the EYE. Damage to the nerve or its nucleus disrupts horizontal eye movement control. | The entire nerve apparatus, composed of a central part, the brain and spinal cord, and a peripheral part, the cranial and spinal nerves, autonomic ganglia, and plexuses. (Stedman, 26th ed) |
C0000741 | is_location_of_anatomic_structure | C0037303 | Abducens nerve structure | Bone structure of cranium | The 6th cranial nerve which originates in the ABDUCENS NUCLEUS of the PONS and sends motor fibers to the lateral rectus muscles of the EYE. Damage to the nerve or its nucleus disrupts horizontal eye movement control. | The SKELETON of the HEAD including the FACIAL BONES and the bones enclosing the BRAIN. |
C0000741 | anatomic_structure_is_physical_part_of | C0152407 | Abducens nerve structure | Structure of abducens nucleus | The 6th cranial nerve which originates in the ABDUCENS NUCLEUS of the PONS and sends motor fibers to the lateral rectus muscles of the EYE. Damage to the nerve or its nucleus disrupts horizontal eye movement control. | A region in the PONTINE TEGMENTUM that is the nucleus of the ABDUCENS NERVE. |
C0000741 | disease_has_associated_anatomic_site | C0271355 | Abducens nerve structure | Abducens Nerve Diseases | The 6th cranial nerve which originates in the ABDUCENS NUCLEUS of the PONS and sends motor fibers to the lateral rectus muscles of the EYE. Damage to the nerve or its nucleus disrupts horizontal eye movement control. | Diseases of the sixth cranial (abducens) nerve or its nucleus in the pons. The nerve may be injured along its course in the pons, intracranially as it travels along the base of the brain, in the cavernous sinus, or at the level of superior orbital fissure or orbit. Dysfunction of the nerve causes lateral rectus muscle ... |
C0000741 | disease_has_associated_anatomic_site | C1263898 | Abducens nerve structure | Neoplasm of abducens nerve | The 6th cranial nerve which originates in the ABDUCENS NUCLEUS of the PONS and sends motor fibers to the lateral rectus muscles of the EYE. Damage to the nerve or its nucleus disrupts horizontal eye movement control. | null |
C0000741 | subset_includes_concept | C1879948 | Abducens nerve structure | CDISC SDTM Terminology | The 6th cranial nerve which originates in the ABDUCENS NUCLEUS of the PONS and sends motor fibers to the lateral rectus muscles of the EYE. Damage to the nerve or its nucleus disrupts horizontal eye movement control. | The terminology subset that includes terms pertaining to the CDISC Study Data Tabulation Model (SDTM). |
C0000741 | subset_includes_concept | C1880104 | Abducens nerve structure | Clinical Data Interchange Standards Consortium Terminology | The 6th cranial nerve which originates in the ABDUCENS NUCLEUS of the PONS and sends motor fibers to the lateral rectus muscles of the EYE. Damage to the nerve or its nucleus disrupts horizontal eye movement control. | The terminology that includes terms relevant to the Clinical Data Interchange Standards Consortium. |
C0000741 | subset_includes_concept | C2698620 | Abducens nerve structure | CDISC SDTM Anatomical Location Terminology | The 6th cranial nerve which originates in the ABDUCENS NUCLEUS of the PONS and sends motor fibers to the lateral rectus muscles of the EYE. Damage to the nerve or its nucleus disrupts horizontal eye movement control. | Terminology codelist used with Anatomical Locations within the Clinical Data Interchange Standards Consortium Study Data Tabulation Model. |
C0000741 | subset_includes_concept | C2698638 | Abducens nerve structure | CDISC SEND Terminology | The 6th cranial nerve which originates in the ABDUCENS NUCLEUS of the PONS and sends motor fibers to the lateral rectus muscles of the EYE. Damage to the nerve or its nucleus disrupts horizontal eye movement control. | The terminology subset that includes terms relevant to the Clinical Data Interchange Standards Consortium (CDISC) Standard for Exchange of Non-clinical Data (SEND) group. |
C0000741 | disease_has_associated_anatomic_site | C4551519 | Abducens nerve structure | Abducens Nerve Palsy | The 6th cranial nerve which originates in the ABDUCENS NUCLEUS of the PONS and sends motor fibers to the lateral rectus muscles of the EYE. Damage to the nerve or its nucleus disrupts horizontal eye movement control. | Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward. Patients who develop abducens nerve palsy often present with binocular horizontal diplopia, which is a double vision when looking at objects side by side. There will be a notable weakness of the ipsilat... |
C0000741 | disease_has_primary_anatomic_site | C4551519 | Abducens nerve structure | Abducens Nerve Palsy | The 6th cranial nerve which originates in the ABDUCENS NUCLEUS of the PONS and sends motor fibers to the lateral rectus muscles of the EYE. Damage to the nerve or its nucleus disrupts horizontal eye movement control. | Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward. Patients who develop abducens nerve palsy often present with binocular horizontal diplopia, which is a double vision when looking at objects side by side. There will be a notable weakness of the ipsilat... |
C0000741 | subset_includes_concept | C5239016 | Abducens nerve structure | Mapped ICDO3.1 Terminology | The 6th cranial nerve which originates in the ABDUCENS NUCLEUS of the PONS and sends motor fibers to the lateral rectus muscles of the EYE. Damage to the nerve or its nucleus disrupts horizontal eye movement control. | The set of terms that have been mapped to terms with equivalent meaning in the International Classification of Disease for Oncology third edition first revision (ICD-O-3.1). |
C0000741 | subset_includes_concept | C5239017 | Abducens nerve structure | Mapped ICDO3.2 Terminology | The 6th cranial nerve which originates in the ABDUCENS NUCLEUS of the PONS and sends motor fibers to the lateral rectus muscles of the EYE. Damage to the nerve or its nucleus disrupts horizontal eye movement control. | The set of terms that have been mapped to terms with equivalent meaning in the International Classification of Disease for Oncology third edition second revision (ICD-O-3.2). |
C0000741 | subset_includes_concept | C5239020 | Abducens nerve structure | Mapped ICDO3.1 Topography Terminology | The 6th cranial nerve which originates in the ABDUCENS NUCLEUS of the PONS and sends motor fibers to the lateral rectus muscles of the EYE. Damage to the nerve or its nucleus disrupts horizontal eye movement control. | The set of terms that have been mapped to the Topography terms with equivalent meaning in ICD-O-3.1. |
C0000741 | subset_includes_concept | C5239024 | Abducens nerve structure | Mapped ICDO3.2 Topography Terminology | The 6th cranial nerve which originates in the ABDUCENS NUCLEUS of the PONS and sends motor fibers to the lateral rectus muscles of the EYE. Damage to the nerve or its nucleus disrupts horizontal eye movement control. | The set of terms that have been mapped to the Topography terms with equivalent meaning in ICD-O-3.2. |
C0000741 | subset_includes_concept | C5785515 | Abducens nerve structure | mCode Terminology | The 6th cranial nerve which originates in the ABDUCENS NUCLEUS of the PONS and sends motor fibers to the lateral rectus muscles of the EYE. Damage to the nerve or its nucleus disrupts horizontal eye movement control. | Terminology created by EVS to support the Minimal Common Oncology Data Elements (mCode), a data standard for all cancer types. |
C0000741 | subset_includes_concept | C5854943 | Abducens nerve structure | mCode Radiotherapy Treatment Location Value Set | The 6th cranial nerve which originates in the ABDUCENS NUCLEUS of the PONS and sends motor fibers to the lateral rectus muscles of the EYE. Damage to the nerve or its nucleus disrupts horizontal eye movement control. | Terminology created by EVS to support the Minimal Common Oncology Data Elements (mCode), a data standard for all cancer types. |
C0000742 | inverse_isa | C0026626 | Abelson murine leukemia virus | Murine leukemia virus | A replication-defective strain of Murine leukemia virus (LEUKEMIA VIRUS, MURINE) capable of transforming lymphoid cells and producing a rapidly progressing lymphoid leukemia after superinfection with FRIEND MURINE LEUKEMIA VIRUS; MOLONEY MURINE LEUKEMIA VIRUS; or RAUSCHER VIRUS. | Species of GAMMARETROVIRUS, containing many well-defined strains, producing leukemia in mice. Disease is commonly induced by injecting filtrates of propagable tumors into newborn mice. |
C0000742 | gene_found_in_organism | C0080279 | Abelson murine leukemia virus | abl Oncogene | A replication-defective strain of Murine leukemia virus (LEUKEMIA VIRUS, MURINE) capable of transforming lymphoid cells and producing a rapidly progressing lymphoid leukemia after superinfection with FRIEND MURINE LEUKEMIA VIRUS; MOLONEY MURINE LEUKEMIA VIRUS; or RAUSCHER VIRUS. | V-ABL is an ABL oncogene of Abelson's murine leukemia virus. |
C0000744 | mapped_from | C0020623 | Abetalipoproteinemia | Hypolipoproteinemias | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | Conditions with abnormally low levels of LIPOPROTEINS in the blood. This may involve any of the lipoprotein subclasses, including ALPHA-LIPOPROTEINS (high-density lipoproteins); BETA-LIPOPROTEINS (low-density lipoproteins); and PREBETA-LIPOPROTEINS (very-low-density lipoproteins). |
C0000744 | associated_with | C0023823 | Abetalipoproteinemia | Low-Density Lipoproteins | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | A class of lipoproteins of small size (18-25 nm) and light (1.019-1.063 g/ml) particles with a core composed mainly of CHOLESTEROL ESTERS and smaller amounts of TRIGLYCERIDES. The surface monolayer consists mostly of PHOSPHOLIPIDS, a single copy of APOLIPOPROTEIN B-100, and free cholesterol molecules. The main LDL func... |
C0000744 | associated_with | C0333006 | Abetalipoproteinemia | congenital deficiency | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | null |
C0000744 | mapped_to | C2931925 | Abetalipoproteinemia | Abetalipoproteinemia neuropathy | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | null |
C0000744 | use | C0020597 | Abetalipoproteinemia | Hypobetalipoproteinemias | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | Conditions with abnormally low levels of BETA-LIPOPROTEINS (low density lipoproteins or LDL) in the blood. It is defined as LDL values equal to or less than the 5th percentile for the population. They include the autosomal dominant form involving mutation of the APOLIPOPROTEINS B gene, and the autosomal recessive form ... |
C0000744 | use | C0687751 | Abetalipoproteinemia | Acanthocytosis | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars. [https://orcid.org/0000-0002-0736-9199] |
C0000744 | manifestation_of | C0000737 | Abetalipoproteinemia | Abdominal Pain | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | Sensation of discomfort, distress, or agony in the abdominal region. |
C0000744 | manifestation_of | C0002871 | Abetalipoproteinemia | Anemia | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | A reduction in the number of circulating ERYTHROCYTES or in the quantity of HEMOGLOBIN. |
C0000744 | manifestation_of | C0004134 | Abetalipoproteinemia | Ataxia | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or PERIPHERAL NERVE DISEASES. Motor at... |
C0000744 | manifestation_of | C0011991 | Abetalipoproteinemia | Diarrhea | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | An increased liquidity or decreased consistency of FECES, such as running stool. Fecal consistency is related to the ratio of water-holding capacity of insoluble solids to total water, rather than the amount of water present. Diarrhea is not hyperdefecation or increased fecal weight. |
C0000744 | manifestation_of | C0015544 | Abetalipoproteinemia | Failure to Thrive | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | A condition of substandard growth or diminished capacity to maintain normal function. |
C0000744 | manifestation_of | C0015695 | Abetalipoproteinemia | Fatty Liver | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | Lipid infiltration of the hepatic parenchymal cells resulting in a yellow-colored liver. The abnormal lipid accumulation is usually in the form of TRIGLYCERIDES, either as a single large droplet or multiple small droplets. Fatty liver is caused by an imbalance in the metabolism of FATTY ACIDS. |
C0000744 | manifestation_of | C0028077 | Abetalipoproteinemia | Nyctalopia | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | Failure or imperfection of vision at night or in dim light, with good vision only on bright days. (Dorland, 27th ed) |
C0000744 | manifestation_of | C0038238 | Abetalipoproteinemia | Steatorrhea | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | A condition that is characterized by chronic fatty DIARRHEA, a result of abnormal DIGESTION and/or INTESTINAL ABSORPTION of FATS. |
C0000744 | manifestation_of | C0042963 | Abetalipoproteinemia | Vomiting | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | The forcible expulsion of the contents of the STOMACH through the MOUTH. |
C0000744 | manifestation_of | C0151691 | Abetalipoproteinemia | Decreased HDL cholesterol concentration | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | An decreased concentration of high-density lipoprotein cholesterol in the blood. [HPO_CONTRIBUTOR:gcarletti] |
C0000744 | manifestation_of | C0151891 | Abetalipoproteinemia | Retinal depigmentation | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | Reduced pigmentation of the fundus, typically generalized. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (... |
C0000744 | manifestation_of | C0234162 | Abetalipoproteinemia | Cerebellar Dysmetria | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | Lack of coordination of movement necessary to execute a smooth action; often the person over reaches or under reaches. This condition is sometimes symptomatic of a cerebellar cognitive dysfunction. |
C0000744 | manifestation_of | C0234632 | Abetalipoproteinemia | Reduced visual acuity | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | Diminished clarity of vision. |
C0000744 | manifestation_of | C0240914 | Abetalipoproteinemia | Romberg's sign positive | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception. [https://orcid.org/0000-0002-0736-9199] |
C0000744 | manifestation_of | C0349588 | Abetalipoproteinemia | Short stature | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [htt... |
C0000744 | inheritance_type_of | C0441748 | Abetalipoproteinemia | Autosomal recessive inheritance | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene h... |
C0000744 | manifestation_of | C0554103 | Abetalipoproteinemia | Intestinal malabsorption of fat | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | Abnormality of the absorption of fat from the gastrointestinal tract. [https://orcid.org/0000-0002-0736-9199] |
C0000744 | manifestation_of | C0687751 | Abetalipoproteinemia | Acanthocytosis | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars. [https://orcid.org/0000-0002-0736-9199] |
C0000744 | manifestation_of | C0751837 | Abetalipoproteinemia | Gait Ataxia | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | Impairment of the ability to coordinate the movements required for normal ambulation (WALKING) which may result from impairments of motor function or sensory feedback. This condition may be associated with BRAIN DISEASES (including CEREBELLAR DISEASES and BASAL GANGLIA DISEASES); SPINAL CORD DISEASES; or PERIPHERAL NER... |
C0000744 | manifestation_of | C0856966 | Abetalipoproteinemia | Cholesterol levels low | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | null |
C0000744 | manifestation_of | C1866934 | Abetalipoproteinemia | Reduced tendon reflexes | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease. [https://orcid.org/0000-0002-0736-9199, PMID:20941667] |
C0000744 | manifestation_of | C5829471 | Abetalipoproteinemia | Decreased or absent ankle jerk reflex | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | null |
C0000744 | manifestation_of | C5829472 | Abetalipoproteinemia | Decreased or absent patellar reflex | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | null |
C0000744 | manifestation_of | C5829473 | Abetalipoproteinemia | Lipid-laden enterocytes seen on intestinal biopsy | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | null |
C0000744 | manifestation_of | C5829474 | Abetalipoproteinemia | Fine mottling in retina pigment epithelium | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | null |
C0000744 | manifestation_of | C5829475 | Abetalipoproteinemia | Absent responses on ERG | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | null |
C0000744 | manifestation_of | C5829476 | Abetalipoproteinemia | Low to absent plasma ApoB | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | null |
C0000744 | manifestation_of | C5829477 | Abetalipoproteinemia | Low to absent LDL | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | null |
C0000744 | manifestation_of | C5829478 | Abetalipoproteinemia | Low to absent VLDL | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | null |
C0000744 | manifestation_of | C5830786 | Abetalipoproteinemia | Low to absent triglyceride | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | null |
C0000744 | inverse_isa | C0025517 | Abetalipoproteinemia | Metabolic Diseases | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed) |
C0000744 | inverse_isa | C0154251 | Abetalipoproteinemia | Lipid Metabolism Disorders | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | Pathological conditions resulting from abnormal anabolism or catabolism of lipids in the body. |
C0000744 | inverse_isa | C1709838 | Abetalipoproteinemia | Rare Non-Neoplastic Disorder | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | A non-neoplastic disorder that is uncommon. |
C0000744 | is_finding_of_disease | C1514725 | Abetalipoproteinemia | Rare Lesion | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | null |
C0000744 | gene_mapped_to_disease | C1826328 | Abetalipoproteinemia | MTTP gene | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | This gene plays a role in lipid transport. |
C0000744 | subset_includes_concept | C5237033 | Abetalipoproteinemia | CELLOSAURUS Disease Terminology | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | The CELLOSAURUS Disease Terminology is a set of terms used to annotate cell lines originating from a diseased patient or animal. For inherited diseases, the relevant terms are only applied to cell lines originating from individuals suffering or at risk for a disease and not for individuals that are carriers for such di... |
C0000744 | subset_includes_concept | C5785460 | Abetalipoproteinemia | CELLOSAURUS Terminology | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | CELLOSAURUS is a knowledge resource on cell lines. It attempts to describe all cell lines used in biomedical research. It includes immortalized cell lines; naturally immortal cell lines (such as stem cell lines); finite life cell lines when those are distributed and used widely. It encompasses vertebrate cell lines, wi... |
C0000744 | possibly_equivalent_to | C0687751 | Abetalipoproteinemia | Acanthocytosis | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars. [https://orcid.org/0000-0002-0736-9199] |
C0000744 | has_phenotype | C5193294 | Abetalipoproteinemia | MTTP, 1-BP DEL, 215C | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | null |
C0000744 | has_phenotype | C5193295 | Abetalipoproteinemia | MTTP, ARG215TER | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | null |
C0000744 | has_phenotype | C5193296 | Abetalipoproteinemia | MTTP, IVS, G-A, +5 | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | null |
C0000744 | has_phenotype | C5193297 | Abetalipoproteinemia | MTTP, IVS9AS, G-A, -1 | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | null |
C0000744 | has_phenotype | C5193299 | Abetalipoproteinemia | MTTP, ASN780TYR | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | null |
C0000744 | has_phenotype | C5193300 | Abetalipoproteinemia | MTTP, SER590ILE | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | null |
C0000744 | has_phenotype | C5193302 | Abetalipoproteinemia | MTTP, GLY865TER | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | null |
C0000744 | has_phenotype | C5193972 | Abetalipoproteinemia | MTTP, ARG540HIS | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | null |
C0000744 | has_phenotype | C5829397 | Abetalipoproteinemia | MTTP, EX10DEL | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | null |
C0000744 | inverse_isa | C0853085 | Abetalipoproteinemia | Decreased LDL cholesterol concentration | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | An decreased concentration of low-density lipoprotein cholesterol in the blood. [HPO_CONTRIBUTOR:gcarletti] |
C0000744 | isa | C4511438 | Abetalipoproteinemia | Ataxia co-occurrent and due to abetalipoproteinemia | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | null |
C0000744 | inverse_isa | C0020623 | Abetalipoproteinemia | Hypolipoproteinemias | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | Conditions with abnormally low levels of LIPOPROTEINS in the blood. This may involve any of the lipoprotein subclasses, including ALPHA-LIPOPROTEINS (high-density lipoproteins); BETA-LIPOPROTEINS (low-density lipoproteins); and PREBETA-LIPOPROTEINS (very-low-density lipoproteins). |
C0000744 | inverse_isa | C0265388 | Abetalipoproteinemia | Autosomal recessive hereditary disorder | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | null |
C0000744 | isa | C2063846 | Abetalipoproteinemia | familial abetalipoproteinemia | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | null |
C0000744 | mapped_from | C0020623 | Abetalipoproteinemia | Hypolipoproteinemias | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | Conditions with abnormally low levels of LIPOPROTEINS in the blood. This may involve any of the lipoprotein subclasses, including ALPHA-LIPOPROTEINS (high-density lipoproteins); BETA-LIPOPROTEINS (low-density lipoproteins); and PREBETA-LIPOPROTEINS (very-low-density lipoproteins). |
C0000744 | finding_site_of | C0460002 | Abetalipoproteinemia | body system | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | An anatomical structure that consists of organs and organ subclasses responsible for certain body functions. Representative examples are the gastrointestinal system, urinary system, and hematopoietic system. |
C0000744 | has_occurrence | C1744681 | Abetalipoproteinemia | Congenital (qualifier value) | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | Denoting something that is present at birth. |
C0000744 | due_to | C4511438 | Abetalipoproteinemia | Ataxia co-occurrent and due to abetalipoproteinemia | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | null |
C0000744 | due_to | C5687606 | Abetalipoproteinemia | Ophthalmoplegia due to abetalipoproteinemia | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | null |
C0000744 | has_member | C1869073 | Abetalipoproteinemia | Congenital, familial and genetic disorders (SMQ) | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | This SMQ is a sub-search of SMQ Pregnancy and neonatal topics. For detailed description, please refer to the one in SMQ Pregnancy and neonatal topics. |
C0000744 | inverse_isa | C0020597 | Abetalipoproteinemia | Hypobetalipoproteinemias | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | Conditions with abnormally low levels of BETA-LIPOPROTEINS (low density lipoproteins or LDL) in the blood. It is defined as LDL values equal to or less than the 5th percentile for the population. They include the autosomal dominant form involving mutation of the APOLIPOPROTEINS B gene, and the autosomal recessive form ... |
C0000744 | inverse_isa | C0687751 | Abetalipoproteinemia | Acanthocytosis | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars. [https://orcid.org/0000-0002-0736-9199] |
C0000744 | inverse_isa | C5680332 | Abetalipoproteinemia | Syndromic rod-cone dystrophy | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features includ... | null |
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