32 relations: AHSA2, Base pair, BCL11A, Camptodactyly, Chromosome 2, Cortical dysplasia, FANCL, Gene, Genetic disorder, Hydronephrosis, Intellectual disability, KIAA1841, Locus (genetics), Medical literature, Microcephaly, Mosaic (genetics), Nasal bridge, Optic nerve hypoplasia, Orphanet, Palpebral fissure, PAPOLG, PEX13, Philtrum, Pigeon toe, Pseudogene, Ptosis (eyelid), REL, Syndrome, Telecanthus, USP34, VRK2, XPO1.
AHSA2 also known as AHA1, activator of heat shock 90kDa protein ATPase homolog 2 (yeast) is a human gene which encodes a protein which acts as co-chaperone of Hsp90 (heat shock protein 90).
A base pair (bp) is a unit consisting of two nucleobases bound to each other by hydrogen bonds.
B-cell lymphoma/leukemia 11A is a protein that in humans is encoded by the BCL11A gene.
Camptodactyly is a medical condition that causes one or more fingers to be permanently bent.
Chromosome 2 is one of the 23 pairs of chromosomes in humans.
Focal cortical dysplasia (FCD) is a congenital abnormality of brain development where the neurons in an area of the brain failed to migrate in the proper formation in utero.
E3 ubiquitin-protein ligase FANCL is an enzyme that in humans is encoded by the FANCL gene.
In biology, a gene is a sequence of DNA or RNA that codes for a molecule that has a function.
A genetic disorder is a genetic problem caused by one or more abnormalities in the genome.
Hydronephrosis describes urine-filled dilation of the renal pelvis and/or calyces as a result of obstruction.
Intellectual disability (ID), also known as general learning disability, and mental retardation (MR), is a generalized neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning.
KIAA1841 is a gene in humans that encodes a protein known as KIAA1841 (uncharacterized protein KIAA1841).
A locus (plural loci) in genetics is a fixed position on a chromosome, like the position of a gene or a marker (genetic marker).
Medical literature is the scientific literature of medicine: articles in journals and texts in books devoted to the field of medicine.
Microcephaly is a medical condition in which the brain does not develop properly resulting in a smaller than normal head.
In genetics, a mosaic, or mosaicism, involves the presence of two or more populations of cells with different genotypes in one individual, who has developed from a single fertilized egg.
The nasal bridge is the upper, bony part of the human nose, which overlies the nasal bones.
Optic nerve hypoplasia (ONH) is a medical condition arising from the underdevelopment of the optic nerve(s).
Orphanet is a European website providing information about orphan drugs and rare diseases.
The palpebral fissure is the elliptic space between the medial and lateral canthi of the two open lids.
Poly(A) polymerase gamma is an enzyme that in humans is encoded by the PAPOLG gene.
Peroxisomal membrane protein PEX13 is a protein that in humans is encoded by the PEX13 gene.
The philtrum (philtrum, φίλτρον philtron, lit. "love charm"), or medial cleft, is a vertical indentation in the middle area of the upper lip, common to many mammals, extending in humans from the nasal septum to the tubercle of the upper lip.
Pigeon toe, also known as in-toeing, is a condition which causes the toes to point inward when walking.
Pseudogenes are segments of DNA that are related to real genes.
Ptosis (/ˈtoʊsɪs/) is a drooping or falling of the upper eyelid.
The proto-oncogene c-Rel is a protein that in humans is encoded by the REL gene.
A syndrome is a set of medical signs and symptoms that are correlated with each other and, often, with a particular disease or disorder.
Telecanthus (from the Greek word "tele" (τῆλε) meaning far, and the Latin word canthus, meaning either corner of the eye, where the eyelids meet) refers to increased distance between the medial canthi of the eyes, while the inter-pupillary distance is normal.
Ubiquitin carboxyl-terminal hydrolase 34 is an enzyme that in humans is encoded by the USP34 gene.
Serine/threonine-protein kinase VRK2 is an enzyme that in humans is encoded by the VRK2 gene.
Exportin 1 (XPO1), also known as chromosomal maintenance 1 (CRM1), is an eukaryotic protein that mediates the nuclear export of proteins, rRNA, snRNA, and some mRNA.