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 ⌀ |
|---|---|---|---|---|---|---|
C0000744 | inverse_isa | C5680814 | Abetalipoproteinemia | Rare hereditary metabolic disease with peripheral 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 | inverse_isa | C5680981 | Abetalipoproteinemia | Genetic intestinal disease due to fat malabsorption | 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 | C5681332 | Abetalipoproteinemia | Neurometabolic disease | 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 | C5681517 | Abetalipoproteinemia | Autosomal recessive metabolic cerebellar 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... | null |
C0000744 | inverse_isa | C5681665 | Abetalipoproteinemia | Metabolic disease with cataract | 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 | C5681745 | Abetalipoproteinemia | Intestinal disease due to fat malabsorption | 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 | mapped_from | 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. |
C0000754 | associated_with | C0001193 | Congenital abnormal fusion | Apert syndrome | null | An autosomal dominant inherited type of acrocephalosyndactyly caused by mutations in the FGFR2 gene. It is characterized by early closure of the sutures between the skull bones, bulging eyes, low-set ears, fusion of the second, third, and forth fingers, and fusion of the toes. |
C0000754 | associated_with | C0016873 | Congenital abnormal fusion | Fused Teeth | null | Two teeth united during development by the union of their tooth germs; the teeth may be joined by the enamel of their crowns, by their root dentin, or by both. |
C0000754 | associated_with | C0022738 | Congenital abnormal fusion | Klippel-Feil Syndrome | null | A syndrome characterised by a low hairline and a shortened neck resulting from a reduced number of vertebrae or the fusion of multiple hemivertebrae into one osseous mass. |
C0000754 | associated_with | C0079541 | Congenital abnormal fusion | Holoprosencephaly | null | Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage. Alobar prosencephaly is the most severe form and features anophthalmia; cyclopia; severe INTELLECTUAL DISABILITY; CLEFT LIP; CLEFT PALATE; SEIZURES; and microcephaly... |
C0000754 | associated_with | C0152233 | Congenital abnormal fusion | Congenital ankyloblepharon | null | A congenital abnormality in which the margins of the upper and lower eyelids are fused together by bands of tissue. |
C0000754 | associated_with | C0158736 | Congenital abnormal fusion | Syndactyly of fingers with fusion of bones | null | Webbing or fusion of the fingers, involving soft parts and including fusion of individual finger bones. [https://orcid.org/0009-0006-4530-3154] |
C0000754 | associated_with | C0158738 | Congenital abnormal fusion | Syndactyly of toes with fusion of bones | null | Webbing or fusion of the toes, involving soft parts and including fusion of individual bones of the toes. Bony fusions are referred to as bony" Syndactyly if the fusion occurs in a tibial-fibular axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism"." [https://orcid.org/0009-000... |
C0000754 | associated_with | C0158761 | Congenital abnormal fusion | Radioulnar Synostosis | null | An abnormal osseous union (fusion) between the radius and the ulna. [https://orcid.org/0000-0002-0736-9199] |
C0000754 | associated_with | C0221353 | Congenital abnormal fusion | Horseshoe Kidney | null | Congenital fusion of two kidneys in the lower midline. |
C0000754 | associated_with | C0265242 | Congenital abnormal fusion | Otocephaly | null | A fatal, congenital, anatomic defect of the head characterised by a total or near total absence of the lower jaw, resulting in the union or close approach of the ears on the ventral side of the neck. |
C0000754 | associated_with | C0265651 | Congenital abnormal fusion | Astragaloscaphoid synostosis | null | null |
C0000754 | associated_with | C0265652 | Congenital abnormal fusion | Calcaneonavicular bar | null | null |
C0000754 | associated_with | C0265653 | Congenital abnormal fusion | Coalition of calcaneus | null | null |
C0000754 | associated_with | C0265654 | Congenital abnormal fusion | Tarsal Coalition | null | Congenital, complete or partial fusion of the TARSAL BONES of the foot. PES PLANUS is usually a feature. |
C0000754 | associated_with | C0265678 | Congenital abnormal fusion | Congenital fusion of spine | null | null |
C0000754 | associated_with | C0265682 | Congenital abnormal fusion | Sacralization of lumbar vertebra | null | null |
C0000754 | associated_with | C0265685 | Congenital abnormal fusion | Congenital fusion of sacroiliac joint | null | null |
C0000754 | associated_with | C0265695 | Congenital abnormal fusion | Congenital fusion of ribs | null | Complete or partial merging of adjacent ribs. [https://orcid.org/0000-0002-0736-9199] |
C0000754 | associated_with | C0265782 | Congenital abnormal fusion | Unilobar lung | null | null |
C0000754 | associated_with | C0265850 | Congenital abnormal fusion | Fused commissures of mitral valve | null | null |
C0000754 | associated_with | C0266033 | Congenital abnormal fusion | Gemination of teeth | null | The development of two teeth from a single tooth bud, leading to a larger fused tooth. [PMID:18167487] |
C0000754 | associated_with | C0266096 | Congenital abnormal fusion | Synchilia | null | null |
C0000754 | associated_with | C0266305 | Congenital abnormal fusion | Fused Kidney | null | Congenital fusion of two kidneys. |
C0000754 | associated_with | C0266361 | Congenital abnormal fusion | Hermaphroditism, True | null | An historical term for conditions of sexual ambiguity in which the individual possesses gonadal tissues of both sexes. |
C0000754 | associated_with | C0266419 | Congenital abnormal fusion | Synechia vulvae | null | Synechia vulvae (adhesions of the labia minora) are characterized by a complete or partial fusion of the labia minora in the midline. [PMID:17364294, PMID:29262197] |
C0000754 | associated_with | C0266428 | Congenital abnormal fusion | Congenital fusion of testis | null | null |
C0000754 | associated_with | C0266602 | Congenital abnormal fusion | Congenital fusion of ossicles of ear | null | null |
C0000754 | associated_with | C0266636 | Congenital abnormal fusion | Splenogonadal fusion | null | A rare, non-syndromic visceral malformation characterized by an abnormal, continuous or discontinuous attachment of the spleen to the gonad, epididymis or vas. Continuous type has a direct connection between spleen and the gonad, whereas discontinuous type indicates gonadal tissue fused with an accessory spleen or ecto... |
C0000754 | associated_with | C0431863 | Congenital abnormal fusion | Carpal synostosis | null | Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform). [https://orcid.org/0000-0002-0736-9199] |
C0000754 | associated_with | C0431878 | Congenital abnormal fusion | Symbrachydactyly | null | null |
C0000754 | associated_with | C0685210 | Congenital abnormal fusion | Congenital abnormal fusion of palatine bone | null | null |
C0000754 | associated_with | C0685217 | Congenital abnormal fusion | Congenital abnormal fusion of zygomatic bone | null | null |
C0000754 | associated_with | C0685223 | Congenital abnormal fusion | Congenital abnormal fusion of nasal bone | null | null |
C0000754 | associated_with | C0685231 | Congenital abnormal fusion | Congenital abnormal fusion of lacrimal bone | null | null |
C0000754 | associated_with | C0685245 | Congenital abnormal fusion | Congenital abnormal fusion of vomer | null | null |
C0000754 | associated_with | C0685252 | Congenital abnormal fusion | Congenital abnormal fusion of premaxilla | null | null |
C0000754 | associated_with | C0685261 | Congenital abnormal fusion | Congenital abnormal fusion of alisphenoid bone | null | null |
C0000754 | associated_with | C0685269 | Congenital abnormal fusion | Congenital abnormal fusion of basisphenoid bone | null | null |
C0000754 | associated_with | C0685277 | Congenital abnormal fusion | Congenital abnormal fusion of presphenoid bone | null | null |
C0000754 | associated_with | C0685285 | Congenital abnormal fusion | Congenital abnormal fusion of basioccipital bone | null | null |
C0000754 | associated_with | C0685293 | Congenital abnormal fusion | Congenital abnormal fusion of exoccipital bone | null | null |
C0000754 | associated_with | C0685301 | Congenital abnormal fusion | Congenital abnormal fusion of supraoccipital bone | null | null |
C0000754 | associated_with | C0685310 | Congenital abnormal fusion | Congenital abnormal fusion of interparietal bone | null | null |
C0000754 | associated_with | C0685319 | Congenital abnormal fusion | Congenital abnormal fusion of parietal bone | null | null |
C0000754 | associated_with | C0685327 | Congenital abnormal fusion | Congenital abnormal fusion of squamosal bone | null | null |
C0000754 | associated_with | C0685335 | Congenital abnormal fusion | Congenital abnormal fusion of frontal bone | null | null |
C0000754 | associated_with | C0685344 | Congenital abnormal fusion | Macromelia | null | null |
C0000754 | associated_with | C0685371 | Congenital abnormal fusion | Congenital abnormal fusion of humerus | null | null |
C0000754 | associated_with | C0685377 | Congenital abnormal fusion | Congenital abnormal fusion of radius | null | null |
C0000754 | associated_with | C0685386 | Congenital abnormal fusion | Congenital abnormal fusion of ulna | null | null |
C0000754 | associated_with | C0685404 | Congenital abnormal fusion | Congenital abnormal fusion of metacarpal bone | null | null |
C0000754 | associated_with | C0685416 | Congenital abnormal fusion | Congenital abnormal fusion of forepaw phalanx | null | null |
C0000754 | associated_with | C0685419 | Congenital abnormal fusion | Congenital abnormal fusion of femur | null | null |
C0000754 | associated_with | C0685425 | Congenital abnormal fusion | Congenital abnormal fusion of fibula | null | null |
C0000754 | associated_with | C0685432 | Congenital abnormal fusion | Congenital abnormal fusion of tibia | null | null |
C0000754 | associated_with | C0685442 | Congenital abnormal fusion | Congenital abnormal fusion of calcaneus | null | null |
C0000754 | associated_with | C0685449 | Congenital abnormal fusion | Congenital abnormal fusion of talus | null | null |
C0000754 | associated_with | C0685456 | Congenital abnormal fusion | Congenital abnormal fusion of tarsal bone | null | null |
C0000754 | associated_with | C0685465 | Congenital abnormal fusion | Congenital abnormal fusion of metatarsal bone | null | null |
C0000754 | associated_with | C0685478 | Congenital abnormal fusion | Congenital abnormal fusion of hindpaw phalanx | null | null |
C0000754 | associated_with | C0685484 | Congenital abnormal fusion | Congenital abnormal fusion of arch of cervical vertebra | null | null |
C0000754 | associated_with | C0685493 | Congenital abnormal fusion | Congenital abnormal fusion of centrum of cervical vertebra | null | null |
C0000754 | associated_with | C0685494 | Congenital abnormal fusion | Congenital abnormal fusion of centrum cartilage of cervical vertebra | null | null |
C0000754 | associated_with | C0685509 | Congenital abnormal fusion | Congenital abnormal fusion of arch of thoracic vertebra | null | null |
C0000754 | associated_with | C0685518 | Congenital abnormal fusion | Congenital abnormal fusion of centrum of thoracic vertebra | null | null |
C0000754 | associated_with | C0685519 | Congenital abnormal fusion | Congenital abnormal fusion of centrum cartilage of thoracic vertebra | null | null |
C0000754 | associated_with | C0685534 | Congenital abnormal fusion | Congenital abnormal fusion of arch of lumbar vertebra | null | null |
C0000754 | associated_with | C0685543 | Congenital abnormal fusion | Congenital abnormal fusion of centrum of lumbar vertebra | null | null |
C0000754 | associated_with | C0685544 | Congenital abnormal fusion | Congenital abnormal fusion of centrum cartilage of lumbar vertebra | null | null |
C0000754 | associated_with | C0685562 | Congenital abnormal fusion | Congenital abnormal fusion of arch of sacral vertebra | null | null |
C0000754 | associated_with | C0685571 | Congenital abnormal fusion | Congenital abnormal fusion of centrum of sacral vertebra | null | null |
C0000754 | associated_with | C0685572 | Congenital abnormal fusion | Congenital abnormal fusion of centrum cartilage of sacral vertebra | null | null |
C0000754 | associated_with | C0685590 | Congenital abnormal fusion | Congenital abnormal fusion of arch of caudal vertebra | null | null |
C0000754 | associated_with | C0685598 | Congenital abnormal fusion | Congenital abnormal fusion of centrum of caudal vertebra | null | null |
C0000754 | associated_with | C0685636 | Congenital abnormal fusion | Congenital abnormal fusion of rib cartilage | null | null |
C0000754 | associated_with | C0685646 | Congenital abnormal fusion | Supernumerary fused sternebra | null | null |
C0000754 | associated_with | C0685653 | Congenital abnormal fusion | Congenital abnormal fusion of ilium | null | null |
C0000754 | associated_with | C0685663 | Congenital abnormal fusion | Congenital abnormal fusion of ischium | null | null |
C0000754 | associated_with | C0685682 | Congenital abnormal fusion | Single naris | null | The presence of only a single nostril. [PMID:19152422] |
C0000754 | associated_with | C0685777 | Congenital abnormal fusion | Congenital abnormal fusion of mandible | null | null |
C0000754 | associated_with | C0685782 | Congenital abnormal fusion | Congenital abnormal fusion of maxilla | null | null |
C0000754 | associated_with | C0685814 | Congenital abnormal fusion | Congenital abnormal fusion of liver lobes | null | null |
C0000754 | associated_with | C0685818 | Congenital abnormal fusion | Congenital abnormal fusion of adrenal glands | null | null |
C0000754 | associated_with | C0685880 | Congenital abnormal fusion | Congenital abnormal fusion of tympanic anulus | null | null |
C0000754 | associated_with | C0685895 | Congenital abnormal fusion | Rhinocephaly | null | A congenital anatomic defect characterised by the presence of a proboscis-like nose located above the eyes, which are partially or completely fused. |
C0000754 | associated_with | C5848178 | Congenital abnormal fusion | Symphalangism | null | null |
C0000754 | isa | C0332875 | Congenital abnormal fusion | Congenital webbing | null | null |
C0000754 | isa | C0332876 | Congenital abnormal fusion | Congenital fold | null | null |
C0000754 | isa | C0332877 | Congenital abnormal fusion | Premature Closure | null | Fusion, stoppage, or loss of patency occurring before the usual or proper time. |
C0000754 | isa | C0332879 | Congenital abnormal fusion | Congenital adhesion, NOS | null | null |
C0000754 | isa | C0332880 | Congenital abnormal fusion | Congenital ankylosis, NOS | null | null |
C0000754 | isa | C0332881 | Congenital abnormal fusion | Congenital pseudoarthrosis | null | null |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.