name: temporomandibular joint dysfunction syndrome

description: A common disorder noted with jaw movement. It may be caused by malocclusion, repetitive use injury, trauma or arthritis. It is more prevalent among females between their second and fourth decades. Clinical signs include preauricular pain, temporomandibular joint clicking (as the mandibular condyle slips from the articulation made with the capsular disk and temporal bone) and restriction of jaw motion. Clinical course is typically benign but may progress to associated headaches, ear and neck pain, tinnitus and dislocation of temporomandibular joint. Prognosis is favorable as a majority of cases will respond to conservative management.


trichorhinophalangeal syndrome type I

category: biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing

description: An autosomal dominant malformation syndrome caused by mutations in TRPS1 characterized by distinctive craniofacial and skeletal abnormalities. TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature.


paraneoplastic limbic encephalitis

description: A rare disorder characterized by degenerative changes in the limbic area of the brain. Causes include infections and autoimmune conditions; it may also manifest as a paraneoplastic syndrome, most often caused by small cell lung carcinoma. Signs and symptoms include behavioral changes, hallucinations and dementia.


name: Constitutional Mismatch Repair Deficiency Syndrome

description: A rare childhood cancer predisposition syndrome caused by biallelic inheritance of mutations in MLH1, MSH2, MSH6, or PMS2 genes. It is characterized by the development of childhood cancers, usually hematological malignancies and/or brain tumors, and colorectal cancers with multiple intestinal polyps. The majority of patients show signs of neurofibromatosis type 1.


Cowden syndrome 1

description: Any Cowden disease in which the cause of the disease is a mutation in the PTEN gene.


Muir-Torre syndrome

description: A usually autosomal dominant inherited neoplastic syndrome caused by mutations in the hMSH-2 and hMLH-1 genes. It is characterized by the presence of sebaceous skin tumors (adenoma or carcinoma), and internal organ malignant tumors, usually of the gastrointestinal or genitourinary tract.


Refractory Myelodysplastic Syndrome

description: Myelodysplastic syndrome that does not respond to treatment.


Familial Cylindromatosis

description: A rare autosomal dominant inherited disorder associated with mutation of the CYLD tumor suppressor gene. It is characterized by the development of multiple cylindromas, usually in the skin of the scalp.


Diamond-Blackfan anemia 1

description: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS19 gene.


name: spondyloepimetaphyseal dysplasia, sponastrime type

description: A rare genetic disorder characterized by bone marrow failure, spinal abnormalities, saddle nose, and metaphysical striation.


Usher syndrome type 3

description: A syndrome characterized by postlingual progressive hearing loss, abnormalities in the vestibular system, and onset of retinitis pigmentosa symptoms usually by the second decade of life.


Sickle Cell Dactylitis

description: A severe acute inflammatory response affecting the hands and feet of individuals with with sickle cell disease, sickle cell-hemoglobin C disease or sickle cell-beta-thalassemia. It is caused by vaso-occlusive episodes leading to ischemia and finally infarction of the distal portions of the extremities. Clinical signs of pain, swelling and tenderness of digits usually begin in early childhood and may be the initial manifestations of sickle cell anemia. Clinical course is self-limited with instances typically lasting a few weeks and occurring during sickling crises. An initial episode before the age of 1 strongly correlates with a more severe disease course.


name: Neurofibromatosis Type 1 with Inoperable, Progressive, Symptomatic Plexiform Neurofibromas

description: Progressive, symptomatic neurofibromatosis type 1 associated with plexiform neurofibromas that cannot be removed surgically without risk of substantial morbidity.


Neoplastic Syndromes, Hereditary

description: An inherited genetic condition in which members within a family are at an increased risk for the development of benign and/or malignant neoplasms.


selective IgD deficiency disease

description: A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class D (IgD). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient production of IgD from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons are asymptomatic and do not appear to be at increased risk for infection.


Neutrophil Actin Defect

description: A genetic disorder characterized by defective polymorphonuclear cell actin function, resulting in impaired granulocyte motility.


Leaky Severe Combined Immunodeficiency

description: A form of severe combined immunodeficiency (SCID) that presents with T-cell counts that are higher than typical for SCID, and variable signs and symptoms including: itchy, erythematous skin, alopecia, hepatosplenomegaly, lymphadenopathy, anemia, thyroid dysfunction and diarrhea. T-cell counts may initially be noted to be within normal ranges since some may "leak" through into the peripheral blood affecting proper measurement.


name: multiple congenital anomalies-hypotonia-seizures syndrome 1

description: Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGN gene.


48,XXYY syndrome

description: The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males.


Hermansky-Pudlak syndrome 6

description: Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS6 gene.


name: acute motor and sensory axonal neuropathy

description: Acute motor-sensory axonal neuropathy (AMSAN) is a motor-sensory, axonal form of Guillain-Barre syndrome (GBS).


name: Lymphocytic Variant Hypereosinophilic Syndrome

description: A hypereosinophilic syndrome characterized by the presence of a clonal T-cell population. Patients present with cutaneous findings including eczematous dermatitis, nodules, papules, and pruritis, rheumatological symptoms, gastrointestinal symptoms, and lymphadenopathy. Lymph node biopsies show eosinophilia, atypical lymphocytes, clonally rearranged T-cells, and architectural distortion. Skin biopsies may also show the clonally rearranged T-cell population.


name: congenital disorder of glycosylation type 1E

description: The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.


Achenbach syndrome

description: A rare disorder which affects the volar surfaces of fingers. Clinical signs include recurrent, spontaneous or post-traumatic bruising of fingers. The clinical course of the resultant hematoma usually follows a pattern of resolution within days.


name: Severe Combined Immunodeficiency due to RAG2 Deficiency

description: An autosomal recessive condition caused by mutation(s) in the RAG2 gene, encoding V(D)J recombination-activating protein 2. It is characterized by severe combined immunodeficiency that is both T-cell and B-cell negative.


trichothiodystrophy 1, photosensitive

description: An autosomal recessive subtype of trichothiodystrophy caused by mutation(s) in the ERCC2 gene, encoding general transcription and DNA repair factor IIH helicase subunit XPD.


Hypoplastic myelodysplastic syndrome

description: Myelodysplastic syndrome characterized by decreased cellularity in the bone marrow.


name: Myelodysplastic Syndrome/Acute Myeloid Leukemia with Myelodysplasia-Related Cytogenetic Abnormalities

description: Myelodysplastic syndromes/acute myeloid leukemias classified based on specific karyotype findings.


Joubert syndrome 7

description: Any Joubert syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene.


tetrasomy 12p

description: Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p.


name: early-onset parkinsonism-intellectual disability syndrome

description: A basal ganglia disorder characterized by Parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter.


name: cortical dysplasia-focal epilepsy syndrome

description: An autosomal recessive condition caused by mutation(s) in the CNTNAP2 gene, encoding contactin-associated protein-like 2. It is characterized by normal development until the onset of intractable focal seizures at age 1-9. After the onset of seizures, language regression, intellectual disability, hyperactivity, and impulsive behaviors begin to occur. The majority of children eventually fulfill the criteria for autism spectrum disorder.


Li-Fraumeni syndrome 2

description: An autosomal dominant cancer predisposition syndrome caused by germline mutations of the CHEK2 gene. It is associated with breast carcinoma, gastric carcinoma, colorectal carcinoma, thyroid gland carcinoma, kidney carcinoma, prostate carcinoma, and non-Hodgkin lymphoma.


name: Congenital iodine deficiency syndrome of neurological type

description: Congenital iodine deficiency syndrome associated with mental retardation, deaf-mutism, and abnormal gait. It results from severe maternal iodine deficiency and hypothyroidism during pregnancy.


Wiskott-Aldrich syndrome

description: A rare, X-linked immunodeficiency syndrome characterized by eczema, thrombocytopenia, and recurrent pyogenic infection. It is seen exclusively in young boys. Typically, IgM levels are low and IgA and IgE levels are elevated. Lymphoreticular malignancies are common.


Wolcott-Rallison syndrome

description: Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.


lethal multiple pterygium syndrome

description: Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia)of the neck, elbows, back of the knees, armpits, and fingers. Fetuses with this condition are usually not born. Some of the prenatal complications include cystic hygroma, hydrops, diaphragmatic hernia, polyhydramnios, underdevelopment of the heart and lungs, microcephaly, bone fusions, joint dislocations, spinal fusion, andbone fractures. Both X-linked and autosomal recessive inheritance have been proposed. Mutations in the CHRNG, CHRNA1, and CHRND genes have been found to cause this condition.


name: severe combined immunodeficiency due to LCK deficiency

description: An extremely rare autosomal recessive condition caused by mutation(s) in the LCK gene, encoding tyrosine-protein kinase Lck. It is characterized by T-cell dysfunction.


name: Selective Antibody Deficiency with Normal Immunoglobulins

description: A rare syndrome characterized by deficiency of specific antibodies to polysaccharide antigens while the specific antibodies to protein antigens are normal.


description: A rare immunodeficiency syndrome characterized by the decrease of the CD4-positive lymphocytes below 300 per cubic millimeter in the absence of identifiable immunodeficiency causes. Patients with this syndrome are at an increased risk of opportunistic infections.


otopalatodigital syndrome type 1

description: The mildest form of otopalatodigital syndrome spectrum disorder that is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.


Peters plus syndrome

description: An autosomal recessively inherited syndromic developmental defect of the eye characterized by a variable phenotype including Peters anomaly and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism.


immunodeficiency 23

description: A condition of decreased or absent presence or activity of phosphoglucomutase 3. Deficiency of this protein is associated with immunodeficiency 23.


Perinatal Drug Withdrawal

description: Withdrawal signs and symptoms that present during the perinatal period and are caused by drug use by the pregnant mother.


Juvenile Primary Fibromyalgia Syndrome

description: Chronic, diffuse, non-inflammatory musculoskeletal pain disorder associated with fatigue and sleep disturbance that can occur in childhood and adolescence. Tender points are not necessary to make the diagnosis, but if present may be less numerous than found in adults.


Sebastian Syndrome

description: An autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes, without other organ dysfunction; it is associated with mutation of the MYH9 gene.


mucopolysaccharidosis type 4B

description: A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature.


ELP1-Medulloblastoma Syndrome

description: An autosomal dominant syndrome caused by germline ELP1 gene variations and characterized by an increased risk of developing SHH-activated, TP53-wildtype medulloblastoma during childhood.


trichothiodystrophy 2, photosensitive

description: An autosomal recessive subtype of trichothiodystrophy caused by mutation(s) in the ERCC3 gene, encoding general transcription and DNA repair factor IIH helicase subunit XPB.


Dyggve-Melchior-Clausen disease

description: Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias.


Fanconi anemia complementation group G

description: Fanconi anemia caused by mutations of the FANCG gene.


renal coloboma syndrome

description: Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.


Carpenter syndrome

description: An extremely rare autosomal recessive syndrome characterized by premature closure of cranial sutures leading to cone-shaped head, fusion of the digits, and the presence of more digits than normal. It may be associated with heart defects, single horseshoe-shaped kidney, short stature, undescended testes, and mild mental retardation.


name: combined immunodeficiency due to ZAP70 deficiency

description: Combined immunodeficiency due to ZAP70 deficiency is a very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction.


Recurrent Myelodysplastic Syndrome

description: The reemergence of myelodysplastic syndrome after a period of remission.


complex regional pain syndrome type 2

description: Complex regional pain syndrome type 2 (CRPS2), or causalgia is a form of complex regional pain syndrome that develops after damage to a peripheral nerve and is characterized by spontaneous pain, allodynia and hyperalgesia, not necessarily limited to the territory of the injured nerve, as well as at some point, edema, changes in skin blood flow or sudomotor dysfunction in the pain area.


name: severe combined immunodeficiency due to DNA-PKcs deficiency

description: Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation.


synpolydactyly type 1

description: Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the HOXD13 gene.


UV-sensitive syndrome 2

description: Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC8 gene.


temtamy syndrome

description: Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.


split hand-foot malformation 5

description: Split-hand/foot malformation mapped to chromosome 2q31.


Secondary Myelodysplastic Syndrome

description: A myelodysplastic syndrome resulting from chemotherapy or radiation therapy for cancer or exposure to certain chemicals.


COFS syndrome

description: Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.


Secondary Sjögren's syndrome

description: Sjogren syndrome that occurs with another systemic autoimmune disorder, such as systemic lupus erythematosus or rheumatoid arthritis.


name: Diarrhea-associated hemolytic uremic syndrome

description: Hemolytic uremic syndrome caused by gastrointestinal infection, usually with shiga toxin-producing enterobacteria.


immunodeficiency 14

description: An autosomal dominant condition caused by mutation(s) caused by mutation(s) in the PIK3CD gene, encoding phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform. It is characterized by defects in T-cells and B-cells and recurrent sinopulmonary infections in childhood.


Gabriele de Vries syndrome

description: An autosomal dominant condition caused by mutation(s) in the YY1 gene, encoding transcriptional repressor protein YY1. It is a neurodevelopmental disorder characterized by intellectual disability, developmental delay, and variable functional and morphological abnormalities.


hypohidrotic ectodermal dysplasia

description: A genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency).


Simpson-Golabi-Behmel syndrome type 1

description: Any Simpson-Golabi-Behmel syndrome in which the cause of the disease is a mutation in the GPC3 gene.


triploidy

description: Triploidy is a chromosome abnormality that occurs when there is an extra set of chromosomes present in each cell. Most pregnancies affected by triploidy are lost through early miscarriage. However, reports exist of some affected babies living up to five months. Those that survive are often mosaic. The signs and symptoms associated with triploidy vary but may include a variety of birth defects and an unusually small size. This condition does not run in families and is not associated with maternal or paternal age. Treatment is based on the signs and symptoms present in each person.


Opiate Withdrawal Syndrome

description: A syndrome that is defined by signs and symptoms related to abrupt or gradual stoppage of opioids use. They include strong cravings, sweating, nausea, vomiting, irritation, anxiety, muscle pain, dilated pupils and insomnia.


name: Autoimmune Lymphoproliferative Syndrome with Germline FAS Mutation

description: Autoimmune lymphoproliferative syndrome characterized by the presence of germline FAS mutation.


name: ectodermal dysplasia and immunodeficiency 2

description: A rare disorder caused by mutations in the NFKBIA gene resulting in an autosomal dominant inheritance pattern. It is characterized by abnormal development of ectodermal tissues including the skin, hair, teeth, and sweat glands and immune system deficiency. It results in dry and wrinkled skin, sparse scalp and body hair, missing teeth, and reduced ability to sweat. Patients have abnormally low levels of antibodies causing inability to fight infections.


name: Hereditary Tumor Syndrome Associated with Homologous Recombination Pathway Mutations

description: A hereditary neoplastic syndrome characterized by germline mutations of homologous recombination (HR) pathway genes. It is associated with an increased risk of developing various malignancies including breast, ovarian, pancreatic, and prostate carcinoma, and melanoma.


Xq25 microduplication syndrome

description: An X-linked genetic condition caused by duplication of a small segment of Xq25, which may encompass the GRIA3 and STAG2 genes, encoding glutamate receptor 3 and cohesin subunit SA-2. It is characterized by intellectual disability and distinctive facial dysmorphisms.


name: Myelodysplastic neoplasm of childhood with increased blasts

description: Myelodysplastic syndrome with excess blasts that occurs during childhood.


Diamond-Blackfan anemia 10

description: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS26 gene.


name: granulomatous disease, chronic, X-linked

description: An X-linked recessive form of chronic granulomatous disease caused by mutation(s) in the CYBB gene, encoding cytochrome b-245 beta chain.


chromosome 10q23 deletion syndrome

description: 10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive.


IMAGe syndrome

description: IMAGe syndrome is characterized by the association of intrauterine growth retardation, metaphyseal dysplasia (and short limbs), adrenal hypoplasia congenita, and genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.


Leriche syndrome

description: An atherosclerotic disorder of the peripheral vascular system affecting mostly males in their later decades. It is caused by thrombotic occlusion of the abdominal aorta just above the level of the bifurcation. Clinical signs include impotence, intermittent claudication, diminished femoral pulses and cold, pallid lower extremities. Prognosis is favorable with surgical or endovascular intervention.


mulibrey nanism

description: A prenatal onset growth disorder with multiorgan manifestations.


49,XXXXY syndrome

description: The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males.


Joubert syndrome 9

description: Any Joubert syndrome in which the cause of the disease is a mutation in the CC2D2A gene.


schwannomatosis 1

description: Schwannomatosis caused by germline mutations in the SMARCB1 gene.


multiple endocrine neoplasia

description: An autosomal dominant inherited neoplastic syndrome characterized by the development of various endocrine neoplasms and abnormalities in various anatomic sites. There are four types recognized: type 1 (MEN 1), caused by inactivation of the tumor suppressor gene MEN-1, type 2A (MEN 2A), caused by mutation of the RET gene, type 2B (MEN 2B) also caused by mutation of the RET gene, and type 4 (MEN 4) caused by mutation of the CDKN1B gene. Patients with MEN 1 may develop hyperparathyroidism and parathyroid gland adenomas, pituitary gland adenomas, pancreatic islet cell neoplasms, and carcinoid tumors. Patients with MEN 2A develop medullary thyroid carcinomas and may also develop pheochromocytomas and parathyroid gland hyperplasia. Patients with MEN 2B develop medullary thyroid carcinomas and numerous neural defects including neuromas. Patients with MEN 4 develop endocrine neoplasms, particularly in the parathyroid glands, pituitary, and pancreas.


SERKAL syndrome

description: SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterized by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs.


Shprintzen-Goldberg syndrome

description: Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.


name: cleft lip/palate-ectodermal dysplasia syndrome

description: An ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.


Weill-Marchesani syndrome

description: Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma.


VACTERL/vater association

description: VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.


UNC13D Deficiency

description: A condition of decreased or absent presence of protein unc-13 homolog D. Deficiency of this protein is associated with familial hemophagocytic lymphohistiocytosis 3.


name: selective immunoglobulin deficiency disease

description: A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the five immunoglobulin classes. Deficiencies of immunoglobulins present variably according to isotype. Selective deficiencies may be caused by decreased or inefficient production from progenitor B cells without any corresponding decreases in the other isotypes. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity.


Paraneoplastic Opsoclonus Ataxia

description: Ataxia associated with chaotic multidirectional conjugate eye movements secondary to metastatic tumors to cerebellum.  The most common malignant tumor associated with this paraneoplastic syndrome is lung carcinoma. (NCI)


cerebrooculofacioskeletal syndrome 1

description: Any COFS syndrome in which the cause of the disease is a mutation in the ERCC6 gene.


name: autosomal dominant deafness - onychodystrophy syndrome

description: Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges.


Senior-Loken syndrome

description: Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.


Ancell-Spiegler cylindromas

description: A rare autosomal dominant genodermatosis associated with germline mutations of the CYLD tumor suppressor gene. It is characterized by the development of multiple adnexal tumors (usually cylindromas and trichoepitheliomas), typically in the skin of the scalp. It manifests with numerous papules and/or large dome-shaped nodules on the scalp, resembling a turban.


progressive supranuclear palsy

description: A rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia.


description: Myoclonic-atonic epilepsy caused by mutation(s) in the SLC6A1 gene, encoding sodium- and chloride-dependent GABA transporter 1.


Diamond-Blackfan anemia 6

description: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL5 gene.


name: Severe Combined Immunodeficiency with Absence of T, Normal B Cells

description: An inherited, severe immunodeficiency disorder characterized by abnormalities in the development and function of T cell immunity. The peripheral T lymphocytes are absent or in very low counts. The B lymphocyte counts are normal.


name: Autoimmune Lymphoproliferative Syndrome with Germline CASP8 Mutation

description: Autoimmune lymphoproliferative syndrome characterized by the presence of germline CASP8 mutation.


Ferguson-Smith tumor

description: A rare genetic neoplastic disorder with an autosomal dominant pattern of inheritance characterized by multiple, recurrent skin cancers that spontaneously resolve. It has been described almost exclusively in families of Scottish origin. It is caused by a mutation in the tumor-suppressing gene, TGFBR1, on chromosome 9. Clinical presentation is usually rapidly growing squamous cell carcinomas or keratoacanthomas that primarily localize to sun-exposed areas. Appearance of the neoplasms occurs over several weeks before receding over the course of several months if untreated. The regression of the lesions leaves pitting cicatrices but no other known sequelae.


name: Immunodeficiencies Affecting Cellular and Humoral Immunity - Severe Combined Immune Deficiency

description: A group of immunodeficiency disorders that include T cell-negative, B cell-positive severe combined immunodeficiencies; and T cell-negative, B cell-negative severe combined immunodeficiencies.


trisomy 13

description: Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation.


Li-Fraumeni syndrome

description: An autosomal dominant cancer predisposition syndrome caused by germline mutations of the TP53 gene. It is associated with breast carcinoma, choroid plexus carcinoma, adrenal cortex carcinoma, astrocytic tumors, medulloblastoma, soft tissue sarcoma, osteosarcoma, and leukemia.


Scheie syndrome

description: Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.


name: Ehlers-Danlos syndrome, arthrochalasia type

description: Arthrochalasia Ehlers-Danlos syndrome (aEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility ; congenital hip dislocation; fragile, hyperextensible skin; hypotonia ; and kyphoscoliosis (kyphosis and scoliosis). EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.


MELANOMA-PANCREATIC CANCER SYNDROME

description: An inherited condition caused by autosomal dominant mutation(s) in the CDKN2A gene, encoding cyclin-dependent kinase inhibitor 2A. The condition is characterized by an increased risk of developing melanoma and/or pancreatic carcinoma.


name: Rubinstein-Taybi syndrome due to CREBBP mutations

description: Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the CREBBP gene.


name: Acute Encephalopathy with Biphasic Seizures and Late Reduced Diffusion

description: A clinico-radiologic syndrome consisting of acute encephalopathy characterized by biphasic seizures and altered consciousness in the acute phase, followed by restricted diffusion in the subcortical white matter on diffusion-weighted magnetic resonance imaging.


Bartsocas-Papas syndrome 1

description: A rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.


name: Severe Combined Immunodeficiency with Absence of T and B Cells

description: An inherited, severe immunodeficiency disorder characterized by abnormalities in the development and function of T and B cell immunity. The peripheral T and B lymphocytes are absent or in very low counts.


polymyositis in scleroderma

description: A rare autoimmune disorder in which patients present with overlapping symptoms of systemic scleroderma and polymyositis or dermatomyositis.


description: Decreased or absent levels of serum immunoglobulin A, with normal serum levels of immunoglobulin G and immunoglobulin M in a patient who is older than 4 years of age and in whom all other causes of hypogammaglobulinemia have been excluded. Affected individuals may be asymptomatic or have frequent infections, allergic reactions, or autoimmune disorders.


description: An X-linked dominant condition caused by mutation(s) in the ZC4H2 gene, encoding zinc finger C4H2 domain-containing protein.  It is characterized by neurogenic arthrogryposis resulting from decreased fetal movements. Additional features may include global developmental delay, peripheral neuropathy, and characteristic facies.


Predominantly Antibody Deficiencies

description: A group of primary immunodeficiency diseases caused predominantly by antibody deficiencies, comprised of: Agammaglobulinemia with absent B cells; Severe reduction in at least two serum immunoglobulins, common variable immunodeficiency (CVID) phenotype; Severe reduction in serum IgG and IgA with normal or elevated IgM, hyper-IgM; and Isotype, light chain, or functional deficiencies with generally normal numbers of B cells.


Stickler syndrome type 1

description: Stickler syndrome inherited in an autosomal dominant pattern, caused by mutation(s) in the COL2A1 gene, encoding collagen alpha-1(II) chain.


name: Paraneoplastic Subacute Sensory Neuronopathy

description: A sensory neuropathy caused by the effects of a distant neoplasm (usually a small cell carcinoma). It is usually caused by the production of anti-neuronal autoantibodies: anti-Hu (ANNA-1) or anti-CV2 (CRMP-5), which result in cytotoxic T-cell mediated destruction of dorsal root ganglia. It is the most common clinical presentation of paraneoplastic encephalomyelitis. Clinical signs include asymmetric paresthesia of the face, trunk and proximal extremities followed by lancinating pain, vibrioceptive and proprioceptive impairment, and muted reflexes. Clinical course usually follows a progressive neurologic deterioration which stabilizes at a level of severe, permanent disability.


Type II Refractory Celiac Disease

description: Refractory celiac disease associated with abnormal (clonal) intraepithelial lymphocyte phenotype. It is a precursor of enteropathy-associated T-cell lymphoma.


Refractory Thrombocytopenia

description: A myelodysplastic syndrome characterized by the presence of at least 10% dysplastic megakaryocytes, found within at least 30 megakaryocytes examined in the bone marrow.


name: cerebellar ataxia, intellectual disability, and dysequilibrium

description: A non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.


DICER1-related tumor predisposition

description: Pathogenic germline variation in DICER1 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including pleuropulmonary blastoma, pulmonary cysts, thyroid gland neoplasia, ovarian tumors, and cystic nephroma. Other syndromic features such as macrocephaly have been described.


name: Myelodysplastic Syndrome, Not Otherwise Specified

description: Myelodysplastic syndrome with low blasts characterized by the absence of defining genetic abnormalities.


Neurofibromatosis aggravated

description: A condition causing exacerbation of the clinical features of neurofibromatosis.


Denys-Drash Syndrome, Incomplete

description: Condition comprising congenital nephrotic syndrome with associated WT1 gene mutation with either intersex disorder or Wilms tumor.


ring chromosome 13

description: Ring chromosome 13 is a chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia.


Cornelia de Lange syndrome 2

description: An X-linked inherited form of Cornelia De Lange syndrome caused by mutations in the SMC1A gene mapped to chromosome Xp11.22. Patients have a milder form of the syndrome compared to patients with the NIPBL gene mutation.


Turcot Syndrome Type 1

description: An autosomal dominant hereditary neoplastic syndrome caused by mutations in the PMS2, MLH1, or MSH2 genes. It is characterized by the presence of glioblastoma and the absence of familiar adenomatous polyposis. Patients often develop hereditary nonpolyposis colorectal carcinoma.


IFN-gamma Receptor 1 Deficiency

description: A condition of decreased or absent presence or activity of interferon gamma receptor 1. Deficiency of this protein is associated with immunodeficiency 27A and immunodeficiency 27B.


de novo Myelodysplastic Syndrome

description: A primary myelodysplastic syndrome not associated with prior radiation or chemotherapy treatment.


name: GASTROINTESTINAL STROMAL TUMOR, FAMILIAL

description: An inherited condition caused by autosomal dominant mutation(s) in the KIT or PDGFRA genes, encoding mast/stem cell growth factor receptor Kit and platelet derived growth factor receptor alpha respectively. The condition is characterized by the occurrence of multiple gastrointestinal stromal tumors (GIST).


name: syndromic X-linked intellectual disability 5

description: X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition.


Parana hard-skin syndrome

description: A rare disorder characterized by rigid, thick skin that covers the entire body and affects movements. The movement of the chest and abdomen is severely restricted. Affected individuals develop respiratory insufficiency which may lead to death.


Diffuse Leiomyomatosis Syndrome

description: A syndrome characterized by multiple, benign nodular smooth muscle neoplasms of the esophagus, tracheobronchial tree and the genitourinary tract. Clinical signs include dysphagia with retrosternal pain, dyspnea and genital hypertrophy. There is a strong association with Alport Syndrome in patients with deletions in the type IV collagen alpha chain genes COL4A5 and COL4A6.


Opitz G/BBB syndrome

description: Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS).


name: Myelodysplastic Syndrome/Acute Myeloid Leukemia with Myelodysplasia-Related Gene Mutations

description: Myelodysplastic syndromes/acute myeloid leukemias characterized by the presence of gene mutations that are associated with myelodysplasia.


name: CDH1-Associated Breast Carcinoma Syndrome

description: A cancer susceptibility syndrome caused by inactivating germline mutations of the CDH1 gene. It is associated with the development of lobular carcinoma of the breast. Females with mutation of the CDH1 gene have a 40% risk of developing lobular breast carcinoma.


long QT syndrome 14

description: Any long QT syndrome in which the cause of the disease is a mutation in the CALM1 gene.


acrocephalosyndactyly

description: Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations.


name: severe combined immunodeficiency due to CD70 deficiency

description: A rare primary immunodeficiency caused by homozygous CD70 mutation. It is characterized by susceptibility to Epstein-Barr virus infection, hypogammaglobulinemia, and development of B-cell non-Hodgkin lymphomas and Hodgkin lymphomas.


name: proteasome-associated autoinflammatory syndrome 1

description: An autosomal recessive condition caused by mutation(s) in the PSMB8 gene, encoding proteasome subunit beta type-8. It is characterized by early onset annular erythematous plaques, partial lipodystrophy, and recurrent fever.


CODAS syndrome

description: Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies.


DNA ligase IV deficiency

description: LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).


congenital myasthenic syndrome 5

description: Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an autosomal recessive manner.


transient hypogammaglobulinemia

description: A broad classification for humoral immunodeficiencies. These disorders may be caused by inadequate activation of progenitor B cells, defective class-switching or the effects of medications. Despite the potential for increased susceptibility to infection, these disorders are self-limited with eventual normalization of serum antibody levels.


name: Childhood Myelodysplastic Syndrome with Low Blasts, Not Otherwise Specified

description: Childhood myelodysplastic syndrome with low blasts in which further characterization is not available.


Vertiginous syndrome

description: A group of disorders characterized by the sensation of constant motion or spinning despite not moving.


Sandifer syndrome

description: Sandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia.


name: epidermodysplasia verruciformis, susceptibility to, 4

description: An autosomal recessive condition caused by mutation(s) in the RHOH gene, encoding Rho-related GTP-binding protein RhoH. It presents in childhood and is characterized by defects in T-cell development and signaling leading to increased susceptibility to certain human papilloma viruses (HPV) that cause warty skin lesions that are unresponsive to treatment.


Fanconi anemia complementation group N

description: Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene.


selective IgG subclass deficiency

description: A classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the four immunoglobulin class G (IgG) subclasses. Selective IgG1 deficiency is rare and primarily decreases the immune response to bacterial protein antigens. Selective IgG2 deficiency is the most common subclass deficiency among children and primarily leads to an inadequate response to bacterial polysaccharide antigens. Selective IgG3 deficiency is the most common subclass deficiency among adults and also primarily lowers the response to bacterial proteins. Selective IgG4 deficiency may be a clinically insignificant developmental variant, as IgG4 is a subclass that is virtually undetectable until the end of the first decade of life. Low levels of any IgG subclass will reduce the immune system's effectiveness and thus the clinical presentation of these diseases is usually recurrent infection, particularly by encapsulated bacteria.


Hermansky-Pudlak syndrome 2

description: A type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.


name: Myelodysplastic Syndrome with Mutated TP53

description: Myelodysplastic syndrome characterized by the presence of TP53 gene mutations.


name: chromosome 16p12.1 deletion syndrome, 520kb

description: A condition caused by a 520 kb deletion at 16p12.1. It is characterized by developmental delay, craniofacial dysmorphology and congenital heart defects.


name: cauda equina syndrome with neurogenic bladder

description: A rare neurologic disorder caused by impingement of the nerve roots of the cauda equina secondary to disk herniation, spinal stenosis, vertebral fracture, neoplasm or infection. Clinical signs may include bladder or bowel dysfunction, paresthesia and weakness of the lower extremities. The development of neurogenic bladder implies that surgical decompression was either ineffective, delayed or not attempted.


trisomy X

description: Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX).


Refractory Neurofibromatosis Type 1

description: Neurofibromatosis type 1 that is resistant to treatment.


name: IL21-related infantile inflammatory bowel disease

description: An autosomal recessive subtype of common variable immunodeficiency caused by mutation(s) in the IL21 gene, encoding interleukin-21.


neurofibromatosis 1

description: The most common type of neurofibromatosis.  It is characterized clinically by cutaneous and subcutaneous tumors with patches of hyperpigmentation. The hyperpigmented skin areas, are present from birth and found anywhere on the body surface.  They can vary markedly in size and color.  The dark brown areas are called cafe-au-lait spots. The multiple cutaneous and subcutaneous tumors are nerve sheath tumors, called neurofibromas.  They can develop anywhere along the peripheral nerve fibers. Neurofibromas can become quite large, causing a major disfigurement, eroding bone, and compressing various peripheral nerve structures.  Type 1 neurofibromatosis has dominant inheritance, with a gene locus on the proximal long arm of chromosome 17.


Turcot syndrome (disorder)

description: An autosomal dominant hereditary neoplastic syndrome caused by mutations in the PMS2, MLH1, MSH2, or APC genes. There are two types described, type 1, characterized by the presence of glioblastoma and often associated with hereditary nonpolyposis colorectal carcinoma, and type 2, characterized by the presence of medulloblastoma and familiar adenomatous polyposis.


orofaciodigital syndrome type 6

description: Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.


complement component 3 deficiency

description: A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the third complement component, C3. C3 deficiency may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If C3 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Deficiency of serum C3 and its major cleavage product, C3b, will decrease the effective humoral immune response to encapsulated bacteria. Deficiency of C3 also impairs clearance of circulating immune complexes and therefore predisposes to rheumatic and renal disease.


Immunodeficiency 66

description: An autosomal recessive combined immunodeficiency caused by mutation(s) in the MRTFA (MKL1) gene, encoding myocardin-related transcription factor A. It is characterized by neutropenia and recurrent bacterial infections in infancy.


name: classic dopamine transporter deficiency syndrome

description: Classic Dopamine Transporter Deficiency Syndrome describes a subset of SLC6A3-related DTDS cases which present in early infancy. This disorder is usually first identified by neonatal distress and irritability, feeding difficulties, and motor developmental delay.


name: Congenital iodine deficiency syndrome of mixed type

description: Congenital iodine deficiency syndrome associated with overlapping features of both the neurological and myxedematous variants.


MHC class I deficiency

description: Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections.


Genitourinary syndrome of menopause

description: A spectrum of lower urogenital tract signs and symptoms that are associated with the decreased production of estrogen experienced during menopause.  Findings may include genital dryness, burning or irritation, dyspareunia, decreased libido, urinary urgency, dysuria and recurrent urinary tract infections.


cerebrooculofacioskeletal syndrome 4

description: Any COFS syndrome in which the cause of the disease is a mutation in the ERCC1 gene.


Miller-Dieker lissencephaly syndrome

description: A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip.


name: T-B+ severe combined immunodeficiency due to JAK3 deficiency

description: Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.


lymphoproliferative syndrome 1

description: A condition of decreased or absent presence or activity of IL2-inducible t-cell kinase. Deficiency of this protein is associated with lymphoproliferative syndrome 1, an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia..


Rare Neoplastic Syndrome

description: A broad classification for uncommon disorders in which the development of neoplasms occur in association with a characteristic set of signs or symptoms. These disorders commonly have a genetic basis. The types of neoplasms themselves are not necessarily uncommon.


Ogden syndrome

description: Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.


description: A form of drug hypersensitivity syndrome caused by anti-convulsants.


immunodeficiency 104

description: A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has material basis in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31.


Carney triad

description: Carney's triad is a rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas.


Hypomorphic RAG1 Deficiency

description: A condition of decreased or absent presence or activity of V(D)J recombination-activating protein 1. Deficiency of this protein is associated with Omenn syndrome, severe combined immunodeficiency, b cell-negative, combined cellular and humoral immune defects with granulomas, and alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity.


name: BRCA2-Associated Hereditary Breast and Ovarian Cancer Syndrome

description: An autosomal dominant inherited syndrome caused by deleterious mutations in the BRCA2 gene. Patients are at high risk of developing female and male breast cancer, ovarian cancer, and other cancers including prostatic cancer, pancreatic cancer, gastric cancer, and melanoma.


name: chromosome 8-derived supernumerary ring/marker

description: Chromosome 8-derived supernumerary ring/marker is a rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome.


name: Hereditary Transthyretin Amyloidosis with Polyneuropathy

description: A rare, progressive, autosomally dominant inherited peripheral neuropathy caused by mutations in the TTR gene encoding transthyretin (prealbumin).  It is characterized by deposition of amyloid fibrils in the peripheral nervous system.


Amyloid Neuropathies

description: Neuropathy caused by amyloid deposition in the peripheral nerves.


name: ER membrane protein complex subunit 5 isoform h2 (human)

description: An ER membrane protein complex subunit 5 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8N4V1-2.


name: transcription activator BRG1 cysteinylated 1 (human)

description: A transcription activator BRG1 (human) that has been cysteinylated on the residue at the position equivalent to Cys-1533 of the amino acid sequence represented by UniProtKB:P51532-1. Example: UniProtKB:P51532-1, Cys-1533, MOD:00765.


rotenones

Members of the class of rotenoid which consists of a 6a,12a-dihydrochromeno[3,4-b]chromen-12(6H)-one skeleton and its substituted products.


A member of the class of rotenones that is 4',5'-dihydrotephrosin substituted by hydroxy groups at positions 11 and 5' and a methoxy group at position 4'. It is isolated from the   stems of Tephrosia toxicaria and exhibits antineoplastic activity.


Neonatal Graves' disease

description: Graves disease in the neonate resulting from transplacental passage of thyrotropin receptor antibody.


name: glutathione S-transferase mu 2, initiator methionine removed form (human)

description: A glutathione S-transferase mu 2 (human) that has had the initiator methionine removed. UniProtKB:P28161, 2-218.


name: keratin, type I cytoskeletal 9 deaminated 2 (human)

description: A keratin, type I cytoskeletal 9 (human) that has been deaminated on the residue at the position equivalent to Asn-308 of the amino acid sequence represented by UniProtKB:P35527. UniProtKB:P35527, Asn-308, MOD:00684.


name: intraflagellar transport protein 74 homolog isoform h2 (human)

description: An intraflagellar transport protein 74 homolog (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q96LB3-2.


vesicle transport protein SEC20

A protein that is a translation product of the human BNIP1 gene or a 1:1 ortholog thereof.


name: vesicle transport protein SEC20 isoform h2 (human)

description: A vesicle transport protein SEC20 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q12981-2.


name: vesicle transport protein SEC20 isoform h3 (human)

description: A vesicle transport protein SEC20 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q12981-1.


name: vesicle transport protein SEC20 isoform h4 (human)

description: A vesicle transport protein SEC20 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q12981-3.


name: vesicle transport protein SEC20 isoform 1 (human)

description: A vesicle transport protein SEC20 isoform 4 that is encoded in the genome of human.


name: Bcl-2-associated transcription factor 1 phosphorylated 1 (human)

description: A Bcl-2-associated transcription factor 1 (human) that has been phosphorylated on the residue at the position equivalent to Thr-431 of the amino acid sequence represented by UniProtKB:Q9NYF8-1. Example: UniProtKB:Q9NYF8-1, Thr-431, MOD:00047.


name: cytochrome b-245 heavy chain deaminated 1 (human)

description: A cytochrome b-245 heavy chain (human) that has been deaminated on the residue at the position equivalent to Asn-240 of the amino acid sequence represented by UniProtKB:P04839. UniProtKB:P04839, Asn-240, MOD:00684.


cytochrome b-245 heavy chain

A protein that is a translation product of the human CYBB gene or a 1:1 ortholog thereof.


name: cytochrome b-245 heavy chain isoform 1 (human)

description: A cytochrome b-245 heavy chain isoform 1 that is encoded in the genome of human.


name: cytochrome b-245 heavy chain, initiator methionine removed form (human)

description: A cytochrome b-245 heavy chain (human) that has had the initiator methionine removed. UniProtKB:P04839, 2-570.


name: cytochrome b-245 heavy chain cysteinylated 1 (human)

description: A cytochrome b-245 heavy chain (human) that has been cysteinylated on the residue at the position equivalent to Cys-257 of the amino acid sequence represented by UniProtKB:P04839. UniProtKB:P04839, Cys-257, MOD:00765.


Sinonasal Mucosal Melanoma

description: Melanoma that arises from the mucosal surface of the nasal cavity and paranasal sinus.


name: trafficking kinesin-binding protein 2 isoform h1 (human)

description: A trafficking kinesin-binding protein 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O60296-1.


A sphingomyelin d18:1 in which the ceramide N-acyl group is specified as stearoyl (octadecanoyl).


name: protein mono-ADP-ribosyltransferase PARP14 methylated 2 (human)

description: A protein mono-ADP-ribosyltransferase PARP14 (human) that has been methylated on the residue at the position equivalent to Cys-1115 of the amino acid sequence represented by UniProtKB:Q460N5-6. Example: UniProtKB:Q460N5-6, Cys-1115, MOD:00660.


name: interferon alpha-inducible protein 27, mitochondrial isoform h1 (human)

description: An interferon alpha-inducible protein 27, mitochondrial (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P40305-2.


A  phosphatidylcholine 38:4  in which the acyl groups at positions 1 and 2 are hexadecanoyl and (7Z,10Z,13Z,16Z)-docosatetraenoyl respectively.


name: ATP-dependent RNA helicase DDX19A isoform h2 (human)

description: An ATP-dependent RNA helicase DDX19A (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9NUU7-2.


name: receptor tyrosine-protein kinase erbB-2 sequence variant R896C, signal peptide removed form (human)

description: A receptor tyrosine-protein kinase erbB-2 (human) that has a Cys residue at the position equivalent to Arg-896 of the amino acid sequence represented by UniProtKB:P04626-1 and that has had the signal peptide removed. Example: UniProtKB:P04626-1, 23-1255, Arg-896, CHEBI:29950.


name: metaphyseal chondrodysplasia, Jansen type

description: Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia.


exportin-2 isoform 1 (human)

An exportin-2 isoform 1 that is encoded in the genome of human.


name: HLA class II histocompatibility antigen, DRB1-10 beta chain (human)

description: An HLA class II histocompatibility antigen, DRB1 beta chain (human) that belongs to allele group 10.


name: dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B N-glycosylated 6 (human)

description: A dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B (human) that has been N-glycosylated at the residue equivalent to Asn-627 of the amino acid sequence represented by UniProtKB:Q8TCJ2-1, in which the glycan composition is represented by GlyTouCan:G01650EU. Example: UniProtKB:Q8TCJ2-1, Asn-627, MOD:00160~GNO:G01650EU.


name: voltage-dependent L-type calcium channel subunit alpha-1C isoform h37 (human)

description: A voltage-dependent L-type calcium channel subunit alpha-1C (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13936-37.


titanium oxides

A class containing any titanium molecular entity that is an oxide of titanium.


titanium dioxide nanotube

A nanotube consisting of titanium dioxide.


titanocenes

Compounds containing a titanocene [bis(eta(5)-cyclopentadienyl)titanium] skeleton.


titanium dioxide nanoparticle

A nanoparticle consisting of titanium dioxide.


caveolae-associated protein 2

A protein that is a translation product of the human CAVIN2 gene or a 1:1 ortholog thereof.


name: ubiquitin carboxyl-terminal hydrolase 33 deaminated 1 (human)

description: A ubiquitin carboxyl-terminal hydrolase 33 (human) that has been deaminated on the residue at the position equivalent to Gln-255 of the amino acid sequence represented by UniProtKB:Q8TEY7-1. Example: UniProtKB:Q8TEY7-1, Gln-255, MOD:00685.


name: CDK5 and ABL1 enzyme substrate 1 isoform h1 (human)

description: A CDK5 and ABL1 enzyme substrate 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8TDN4-1.


differentiation-inducing factor

An aromatic ketone that is penta- or hexaphenone bearing chloro, hydroxy and methoxy substituents on the benzene ring. A class of effector molecules isolated from Dictyostelium discoideum.


A differentiation-inducing factor that is hexaphenone bearing two chloro substituents at positions 3 and 5, two hydroxy substituents at positions 2 and 6 as well as a single methoxy substituent at position 4. A secreted, chlorinated molecule that controls cell fate during development of Dictyostelium cells.


A differentiation-inducing factor that is pentaphenone bearing two chloro substituents at positions 3 and 5, two hydroxy substituents at positions 2 and 6 as well as a single methoxy substituent at position 4. A secreted, chlorinated molecule that controls cell fate during development of Dictyostelium cells.


name: acyl-coenzyme A thioesterase 13 isoform 1 (human)

description: An acyl-coenzyme A thioesterase 13 isoform 1 that is encoded in the genome of human.


name: acyl-coenzyme A thioesterase 13 isoform h2 (human)

description: An acyl-coenzyme A thioesterase 13 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9NPJ3-2.


name: protein Wnt-9b, signal peptide removed form (human)

description: A protein Wnt-9b (human) that has had the signal peptide removed. UniProtKB:O14905, 23-357.


name: protein Wnt-9b, signal peptide removed N-glycosylasparagine form (human)

description: A protein Wnt-9b (human) that has had the signal peptide removed and that includes at least 1 N-glycosylated asparagine. UniProtKB:O14905, 23-357, MOD:00160.


protein Wnt-9b O-glycosylated 1 (human)

A protein Wnt-9b (human) that has been O-glycosylated at the residue equivalent to Thr-41 of the amino acid sequence represented by UniProtKB:O14905-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:O14905-1, Thr-41, MOD:00005~GNO:G43417UB.


name: protein Wnt-9b, signal peptide removed N-glycosylated and palmitoleylated 1 (human)

description: A protein Wnt-9b (human) that has had the signal peptide removed, that has been palmitoleylated on the residue at the position equivalent to Ser-216 of the amino acid sequence represented by UniProtKB:O14905, and that includes at least 1 N-glycosylated asparagine. UniProtKB:O14905, 23-357, Ser-216, MOD:01381|MOD:00160.


stalled ribosome sensor GCN1

A protein that is a translation product of the human GCN1 gene or a 1:1 ortholog thereof.


name: stalled ribosome sensor GCN1 deaminated 2 (human)

description: A stalled ribosome sensor GCN1 (human) that has been deaminated on the residue at the position equivalent to Gln-1005 of the amino acid sequence represented by UniProtKB:Q92616. UniProtKB:Q92616, Gln-1005, MOD:00685.


name: stalled ribosome sensor GCN1 methylated 2 (human)

description: A stalled ribosome sensor GCN1 (human) that has been methylated on the residue at the position equivalent to Cys-2255 of the amino acid sequence represented by UniProtKB:Q92616. UniProtKB:Q92616, Cys-2255, MOD:00660.


name: stalled ribosome sensor GCN1 methylated 3 (human)

description: A stalled ribosome sensor GCN1 (human) that has been methylated on the residue at the position equivalent to Cys-1482 of the amino acid sequence represented by UniProtKB:Q92616. UniProtKB:Q92616, Cys-1482, MOD:00660.


name: stalled ribosome sensor GCN1 cysteinylated 2 (human)

description: A stalled ribosome sensor GCN1 (human) that has been cysteinylated on the residue at the position equivalent to Cys-1362 of the amino acid sequence represented by UniProtKB:Q92616. UniProtKB:Q92616, Cys-1362, MOD:00765.


name: stalled ribosome sensor GCN1 deaminated 3 (human)

description: A stalled ribosome sensor GCN1 (human) that has been deaminated on the residue at the position equivalent to Gln-2630 of the amino acid sequence represented by UniProtKB:Q92616. UniProtKB:Q92616, Gln-2630, MOD:00685.


name: stalled ribosome sensor GCN1 methylated 5 (human)

description: A stalled ribosome sensor GCN1 (human) that has been methylated on the residue at the position equivalent to Cys-540 of the amino acid sequence represented by UniProtKB:Q92616. UniProtKB:Q92616, Cys-540, MOD:00660.


name: stalled ribosome sensor GCN1, initiator methionine removed form (human)

description: A stalled ribosome sensor GCN1 (human) that has had the initiator methionine removed. UniProtKB:Q92616, 2-2671.


name: stalled ribosome sensor GCN1 deaminated 4 (human)

description: A stalled ribosome sensor GCN1 (human) that has been deaminated on the residue at the position equivalent to Asn-276 of the amino acid sequence represented by UniProtKB:Q92616. UniProtKB:Q92616, Asn-276, MOD:00684.


name: stalled ribosome sensor GCN1 methylated 1 (human)

description: A stalled ribosome sensor GCN1 (human) that has been methylated on the residue at the position equivalent to Cys-1467 of the amino acid sequence represented by UniProtKB:Q92616. UniProtKB:Q92616, Cys-1467, MOD:00660.


name: stalled ribosome sensor GCN1 methylated 4 (human)

description: A stalled ribosome sensor GCN1 (human) that has been methylated on the residue at the position equivalent to Cys-1535 of the amino acid sequence represented by UniProtKB:Q92616. UniProtKB:Q92616, Cys-1535, MOD:00660.


name: stalled ribosome sensor GCN1 cysteinylated 1 (human)

description: A stalled ribosome sensor GCN1 (human) that has been cysteinylated on the residue at the position equivalent to Cys-1692 of the amino acid sequence represented by UniProtKB:Q92616. UniProtKB:Q92616, Cys-1692, MOD:00765.


name: stalled ribosome sensor GCN1 deaminated 1 (human)

description: A stalled ribosome sensor GCN1 (human) that has been deaminated on the residue at the position equivalent to Gln-804 of the amino acid sequence represented by UniProtKB:Q92616. UniProtKB:Q92616, Gln-804, MOD:00685.


name: [F-actin]-monooxygenase MICAL2 isoform h7 (human)

description: An [F-actin]-monooxygenase MICAL2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O94851-7.


(S)-penconazole

A 1-[2-(2,4-dichlorophenyl)pentyl]1,2,4-triazole that is the (S)-enantiomer of penconazole.


name: deubiquitinase DESI2 cysteinylated 1 (human)

description: A deubiquitinase DESI2 (human) that has been cysteinylated on the residue at the position equivalent to Cys-108 of the amino acid sequence represented by UniProtKB:Q9BSY9-1. Example: UniProtKB:Q9BSY9-1, Cys-108, MOD:00765.


acyl alpha,alpha-trehalose derivative

A glycolipid that is an alpha,alpha-trehalose derivative in which at least one of the hydroxy groups is acylated.


A sulfoglycolipid in which alpha,alpha-trehalose, sulfated at the 2'-position, is acylated at the 2-position with tetracosanoic acid, and at the 3-position with (2E,4S,6S,8S)-2,4,6,8-tetramethyltetracos-2-enoic acid.


A polyacyl alpha,alpha-trehalose derivative that is 2'-sulfo-alpha,alpha-trehalose carrying a palmitoyl group at position 2 and three stearoyl groups at positions 3, 6 and 6'


A sulfoglycolipid in which alpha,alpha-trehalose, sulfated at the 2'-position, is acylated at the 2-position with palmitic acid, and at the 3-position with (2S,4S,6S,8S)-2,4,6,8-tetramethyltetracosanoic acid.


A sulfoglycolipid in which alpha,alpha-trehalose, sulfated at the 2'-position, is acylated at the 2-position with palmitic acid, and at the 3-position with (2S,4S,6S)-2,4,6-trimethyltetracosanoic acid.


A glycolipid that is an alpha,alpha-trehalose derivative in which one of the trehalose hydroxy groups is acylated.


A polyacyl alpha,alpha-trehalose derivative that is 2'-sulfo-alpha,alpha-trehalose carrying palmitoyl and stearoyl groups at positions 2 and 3 respectively.


A sulfoglycolipid in which alpha,alpha-trehalose, sulfated at the 2'-position, is acylated at the 2-position with octanoic acid, and at the 3-position with (2E,4S,6S,8S)-2,4,6,8-tetramethylteracos-2-enoic acid.


A sulfoglycolipid in which alpha,alpha-trehalose, sulfated at the 2'-position, is acylated at the 2-position with (2E,4S)-2,4-dimethyldocos-2-enoic acid, and at the 3-position with palmitoic acid.


A sulfoglycolipid in which alpha,alpha-trehalose, sulfated at the 2'-position, is acylated at the 2-position with palmitic acid, and at the 3-position with (2E,4S,6S)-2,4,6-trimethyltetracos-2-enoic acid.


A sulfoglycolipid in which alpha,alpha-trehalose, sulfated at the 2'-position, is acylated at the 2-position with palmitic acid, and at the 3-position with 16-hydroxypalmitic acid.


A sulfoglycolipid in which alpha,alpha-trehalose, sulfated at the 2'-position, is acylated at the 2-position with palmitic acid, and at the 3-position with a hydroxyphthioceranoic acid (an octamethyl-branched dextrogyre C32 long chain where the stereochemistry at all methyl branches is L).


A sulfoglycolipid in which alpha,alpha-trehalose, sulfated at the 2'-position, is acylated at the 2-position with palmitic acid, and at the 3-position with (2S,4S)-2,4-dimethyldocosanoic acid.


A sulfoglycolipid in which alpha,alpha-trehalose, sulfated at the 2'-position, is acylated at the 2-position with stearic acid, and at the 3-position with a hydroxyphthioceranoic acid (an octamethyl-branched dextrogyre C32 long chain where the stereochemistry at all methyl branches is L).


A sulfoglycolipid in which alpha,alpha-trehalose, sulfated at the 2'-position, is acylated at the 2-position with palmitic acid, and at the 3-position with (2E,4S,6S,8S,10S)-2,4,6,8,10-pentamethylhexacos-2-enoic acid.


A sulfoglycolipid in which alpha,alpha-trehalose, sulfated at the 2'-position, is acylated at the 2-position with palmitic acid, and at the 3-position with (2E,4R)-2,4-dimethyldocos-2-enoic acid.


A sulfoglycolipid in which alpha,alpha-trehalose, sulfated at the 2'-position, is acylated at the 2-position with palmitoic acid, and at the 3-position with (2E,4S,6S,8S)-2,4,6,8-tetramethylhexadec-2-enoic acid.


A sulfoglycolipid in which alpha,alpha-trehalose, sulfated at the 2'-position, is acylated at the 2-position with palmitic acid, and at the 3-position with (2E,4S)-2,4-dimethyldocos-2-enoic acid.


A glycolipid that is an alpha,alpha-trehalose derivative in which two or more of the trehalose hydroxy groups are acylated.


A sulfoglycolipid in which alpha,alpha-trehalose, sulfated at the 2'-position, is acylated at the 2-position with palmitic acid, and at the 3-position with (2S,4S,6S,8S)-2,4,6,8-tetramethyltriacontanoic acid.


sulfolipid I

The principal sulfolipid class of virulent human Mycobacterium tuberculosis strain H(37)Rv.


A sulfoglycolipid in which alpha,alpha-trehalose, sulfated at the 2'-position, is acylated at the 2-position with palmitic acid, and at the 3-position with (2E,4S,6S,8S)-2,4,6,8-tetramethyltetracos-2-enoic acid.


A sulfoglycolipid in which alpha,alpha-trehalose, sulfated at the 2'-position, is acylated at the 2-position with palmitic acid, and at the 3-position with 2-methyloctadecanoic acid.


name: prion-like protein doppel O-glycosylated 1 (human)

description: A prion-like protein doppel (human) that has been O-glycosylated at the residue equivalent to Thr-47 of the amino acid sequence represented by UniProtKB:Q9UKY0-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q9UKY0-1, Thr-47, MOD:00005~GNO:G43417UB.


name: sodium/glucose cotransporter 2 sequence variant N654S (human)

description: A sodium/glucose cotransporter 2 (human) that has a Ser residue at the position equivalent to Asn-654 of the amino acid sequence represented by UniProtKB:P31639-1. Example: UniProtKB:P31639-1, Asn-654, CHEBI:29999.


name: E3 ubiquitin-protein ligase MARCHF8 isoform h1 (human)

description: An E3 ubiquitin-protein ligase MARCHF8 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q5T0T0-1.


name: microtubule-actin cross-linking factor 1 cysteinylated 1 (human)

description: A microtubule-actin cross-linking factor 1 (human) that has been cysteinylated on the residue at the position equivalent to Cys-523 of the amino acid sequence represented by UniProtKB:Q9UPN3-1. Example: UniProtKB:Q9UPN3-1, Cys-523, MOD:00765.


TBC1 domain family member 8B

A protein that is a translation product of the human TBC1D8B gene or a 1:1 ortholog thereof.


name: TBC1 domain family member 8B isoform h1 (human)

description: A TBC1 domain family member 8B (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q0IIM8-1.


name: TBC1 domain family member 8B isoform h2 (human)

description: A TBC1 domain family member 8B (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q0IIM8-2.


name: TBC1 domain family member 8B deaminated 1 (human)

description: A TBC1 domain family member 8B (human) that has been deaminated on the residue at the position equivalent to Gln-96 of the amino acid sequence represented by UniProtKB:Q0IIM8-1. Example: UniProtKB:Q0IIM8-1, Gln-96, MOD:00685.


name: TBC1 domain family member 8B isoform h3 (human)

description: A TBC1 domain family member 8B (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q0IIM8-3.


name: eukaryotic translation initiation factor 5A-1 isoform 1 (human)

description: A eukaryotic translation initiation factor 5A-1 isoform 1 that is encoded in the genome of human.


beta-L-arabinose 1-phosphate

The beta-anomer of L-arabinose 1-phosphate.


name: angiomotin-like protein 2 isoform h3 (human)

description: An angiomotin-like protein 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9Y2J4-3.


name: tRNA (34-2'-O)-methyltransferase regulator WDR6 cysteinylated 1 (human)

description: A tRNA (34-2'-O)-methyltransferase regulator WDR6 (human) that has been cysteinylated on the residue at the position equivalent to Cys-147 of the amino acid sequence represented by UniProtKB:Q9NNW5. UniProtKB:Q9NNW5, Cys-147, MOD:00765.


name: AP-1 complex-associated regulatory protein isoform h2 (human)

description: An AP-1 complex-associated regulatory protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q63HQ0-2.


serine/threonine-protein kinase 3

A protein that is a translation product of the human STK3 gene or a 1:1 ortholog thereof.


name: serine/threonine-protein kinase 3 deaminated 1 (human)

description: A serine/threonine-protein kinase 3 (human) that has been deaminated on the residue at the position equivalent to Asn-280 of the amino acid sequence represented by UniProtKB:Q13188-1. Example: UniProtKB:Q13188-1, Asn-280, MOD:00684.


name: serine/threonine-protein kinase 3 isoform h1 (human)

description: A serine/threonine-protein kinase 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13188-1.


name: serine/threonine-protein kinase 3 36kDa subunit (human)

description: A serine/threonine-protein kinase 3 36kDa subunit in human. Example: UniProtKB:Q13188-1, 1-322, Thr-180, MOD:00047.


name: serine/threonine-protein kinase 3 phosphorylated 2 (human)

description: A serine/threonine-protein kinase 3 (human) that has been phosphorylated on the residue at the position equivalent to Thr-180 of the amino acid sequence represented by UniProtKB:Q13188. UniProtKB:Q13188, Thr-180, MOD:00047.


name: serine/threonine-protein kinase 3 isoform h2 (human)

description: A serine/threonine-protein kinase 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13188-2.


name: serine/threonine-protein kinase 3 phosphorylated 1 (human)

description: A serine/threonine-protein kinase 3 (human) that has been phosphorylated on the residue at the position equivalent to Tyr-81 of the amino acid sequence represented by UniProtKB:Q13188-1. Example: UniProtKB:Q13188-1, Tyr-81, MOD:00048.


FHL1-related myopathy

description: A group of myopathies that includes Emery-Dreifuss muscular dystrophy (EDMD), and two allelic disorders characterized by the presence of reducing body on histopathology, namely reducing body myopathy (RBM) and scapuloperoneal myopathy.


name: myopathy, reducing body, X-linked, childhood-onset


name: myopathy, reducing body, X-linked, early-onset, severe


name: long-chain-fatty-acid--CoA ligase ACSBG2 isoform h2 (human)

description: A long-chain-fatty-acid--CoA ligase ACSBG2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q5FVE4-2.


kavapyrone

A pyranone that is 2H-pyran-2-one substituted by a methoxy group at position 4 and a 3-phenyloxiran-2-yl group at position 6 (the 2R,3S stereoisomer). Isolated from Didymocarpus aurantiacus and Piper rusbyi, it exhibits antileishmanial activity.


name: SH2 domain-containing protein 1B isoform h1 (human)

description: An SH2 domain-containing protein 1B (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O14796-1.


name: a disintegrin and metalloproteinase with thrombospondin motifs 7 O-glycosylated 15 (human)

description: An a disintegrin and metalloproteinase with thrombospondin motifs 7 (human) that has been O-glycosylated at the residue equivalent to Thr-1391 of the amino acid sequence represented by UniProtKB:Q9UKP4-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q9UKP4-1, Thr-1391, MOD:00005~GNO:G43417UB.


name: lysozyme-like protein 1 isoform h2 (human)

description: A lysozyme-like protein 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6UWQ5-2.


name: RNA-binding protein 48 cysteinylated 1 (human)

description: An RNA-binding protein 48 (human) that has been cysteinylated on the residue at the position equivalent to Cys-180 of the amino acid sequence represented by UniProtKB:Q5RL73-1. Example: UniProtKB:Q5RL73-1, Cys-180, MOD:00765.


name: RNA-binding protein 48 isoform h1 (human)

description: An RNA-binding protein 48 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q5RL73-1.


name: RNA-binding protein 48 methylated 1 (human)

description: An RNA-binding protein 48 (human) that has been methylated on the residue at the position equivalent to Cys-180 of the amino acid sequence represented by UniProtKB:Q5RL73-1. Example: UniProtKB:Q5RL73-1, Cys-180, MOD:00660.


name: RNA-binding protein 48 isoform h2 (human)

description: An RNA-binding protein 48 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q5RL73-2.


name: parathyroid hormone-related protein isoform h3 (human)

description: A parathyroid hormone-related protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P12272-3.


name: catenin beta-1 isoform 1 phosphorylated 4 (human)

description: A catenin beta-1 isoform 1 phosphorylated 4 in human. UniProtKB:P35222-1, Ser-45, MOD:00046.


name: amyloid beta precursor like protein 2, signal peptide removed phosphorylated form (human)

description: An amyloid beta precursor like protein 2 (human) that has had the signal peptide removed and that includes at least 1 phosphorylated residue. Example: UniProtKB:Q06481-1, 32-763, MOD:00696.


utrophin deaminated 3 (human)

A utrophin (human) that has been deaminated on the residue at the position equivalent to Gln-2291 of the amino acid sequence represented by UniProtKB:P46939-1. Example: UniProtKB:P46939-1, Gln-2291, MOD:00685.


name: L-lactate dehydrogenase C chain, initiator methionine removed form (human)

description: An L-lactate dehydrogenase C chain (human) that has had the initiator methionine removed. UniProtKB:P07864, 2-332.


name: mitochondrial peptide methionine sulfoxide reductase isoform h2 (human)

description: A mitochondrial peptide methionine sulfoxide reductase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9UJ68-2.


myosin-9 isoform 1 (human)

A myosin-9 isoform 1 that is encoded in the genome of human.


name: mothers against decapentaplegic homolog 3 sequence variant S425C (human)

description: A mothers against decapentaplegic homolog 3 (human) that has a Cys residue at the position equivalent to Ser-425 of the amino acid sequence represented by UniProtKB:P84022-1. Example: UniProtKB:P84022-1, Ser-425, CHEBI:29950.


name: clathrin heavy chain 1 isoform 1 (human)

description: A clathrin heavy chain 1 isoform 1 that is encoded in the genome of human.


aminopeptidase B isoform 1 (human)

An aminopeptidase B isoform 1 that is encoded in the genome of human.


name: erythropoietin N-glycosylated 156 (human)

description: An erythropoietin (human) that has been N-glycosylated at the residue equivalent to Asn-65 of the amino acid sequence represented by UniProtKB:P01588-1, in which the glycan structure is represented by GlyTouCan:G78059CC. Example: UniProtKB:P01588-1, Asn-65, MOD:00160~GNO:G78059CC.


name: tissue-type plasminogen activator N-glycosylated 68 (human)

description: A tissue-type plasminogen activator (human) that has been N-glycosylated at the residue equivalent to Asn-219 of the amino acid sequence represented by UniProtKB:P00750-1, in which the glycan structure is represented by GlyTouCan:G91905FJ. Example: UniProtKB:P00750-1, Asn-219, MOD:00160~GNO:G91905FJ.


name: E3 ubiquitin-protein ligase FANCL isoform 1 (human)

description: An E3 ubiquitin-protein ligase FANCL isoform 1 that is encoded in the genome of human.


anatomical entity

category: biolink:AnatomicalEntity biolink:PhysicalEssence biolink:OrganismalEntity biolink:SubjectOfInvestigation biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing biolink:PhysicalEssenceOrOccurrent

description: Biological entity that is either an individual member of a biological species or constitutes the structural organization of an individual member of a biological species.


name: HLA class I histocompatibility antigen, alpha chain E, signal peptide removed form (human)

description: An HLA class I histocompatibility antigen, alpha chain E (human) that has had the signal peptide removed. UniProtKB:P13747, 22-358.


name: phospholipid-transporting ATPase IK isoform h2 (human)

description: A phospholipid-transporting ATPase IK (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O60423-1.


name: phospholipid-transporting ATPase IK cysteinylated 1 (human)

description: A phospholipid-transporting ATPase IK (human) that has been cysteinylated on the residue at the position equivalent to Cys-265 of the amino acid sequence represented by UniProtKB:O60423-2. Example: UniProtKB:O60423-2, Cys-265, MOD:00765.


name: phospholipid-transporting ATPase IK isoform h3 (human)

description: A phospholipid-transporting ATPase IK (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O60423-3.


name: phospholipid-transporting ATPase IK isoform h1 (human)

description: A phospholipid-transporting ATPase IK (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O60423-2.


name: dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A

description: A protein that is a translation product of the human PDE1A gene or a 1:1 ortholog thereof.


name: dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform h6 (human)

description: A dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P54750-6.


name: dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform h3 (human)

description: A dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P54750-3.


name: dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform h2 (human)

description: A dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P54750-2.


name: dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A, initiator methionine removed form (human)

description: A dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A (human) that has had the initiator methionine removed. UniProtKB:P54750, 2-535.


name: dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform h7 (human)

description: A dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P54750-7.


name: dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform h5 (human)

description: A dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P54750-5.


name: dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform h1 (human)

description: A dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P54750-1.


name: dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform h8 (human)

description: A dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P54750-8.


name: dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform h9 (human)

description: A dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P54750-9.


name: dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform h4 (human)

description: A dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P54750-4.


Grade 3 Colon Adenocarcinoma

description: A colon adenocarcinoma characterized by the presence of a malignant cellular infiltrate with less than 50% glandular formation.


A sulfonamide resulting from the formal condensation of the sulfonic acid group of mesitylene-2-sulphonic acid with the amino group of 2-(m-bromophenyl)ethylamine in which the nitrogen is substituted by a 4-[m-(methylsulfonyl)phenyl]benzyl group.


sialin sequence variant H183R (human)

A sialin (human) that has an Arg residue at the position equivalent to His-183 of the amino acid sequence represented by UniProtKB:Q9NRA2-1. Example: UniProtKB:Q9NRA2-1, His-183, CHEBI:29952.


name: immediate early response gene 5 protein cysteinylated 1 (human)

description: An immediate early response gene 5 protein (human) that has been cysteinylated on the residue at the position equivalent to Cys-52 of the amino acid sequence represented by UniProtKB:Q5VY09. UniProtKB:Q5VY09, Cys-52, MOD:00765.


name: T-cell surface glycoprotein CD8 alpha chain, signal peptide removed form (human)

description: A T-cell surface glycoprotein CD8 alpha chain (human) that has had the signal peptide removed. UniProtKB:P01732, 22-235.


A 2-acyl-1-alkyl-sn-glycero-3-phosphocholine in which the alkyl and the acyl groups at positions 1 and 2 are specified as methyl and hexadecanoyl respectively.


name: BEN domain-containing protein 6 isoform h2 (human)

description: A BEN domain-containing protein 6 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q5SZJ8-2.


Src-like-adapter 2 isoform h4 (human)

A Src-like-adapter 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9H6Q3-4.


name: ubiquitin carboxyl-terminal hydrolase 51 methylated 1 (human)

description: A ubiquitin carboxyl-terminal hydrolase 51 (human) that has been methylated on the residue at the position equivalent to Cys-593 of the amino acid sequence represented by UniProtKB:Q70EK9. UniProtKB:Q70EK9, Cys-593, MOD:00660.


name: zinc-alpha-2-glycoprotein N-glycosylated 22 (human)

description: A zinc-alpha-2-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-128 of the amino acid sequence represented by UniProtKB:P25311-1, in which the glycan composition is represented by GlyTouCan:G03930BU. Example: UniProtKB:P25311-1, Asn-128, MOD:00160~GNO:G03930BU.


A sphingomyelin d18:1 in which the ceramide N-acyl group is specified as lignoceroyl (tetracosanoyl).


name: tripartite motif-containing protein 3 isoform Beta (human)

description: A tripartite motif-containing protein 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O75382-2.


name: tripartite motif-containing protein 3 isoform Gamma (human)

description: A tripartite motif-containing protein 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O75382-3.


name: tripartite motif-containing protein 3 deaminated 1 (human)

description: A tripartite motif-containing protein 3 (human) that has been deaminated on the residue at the position equivalent to Gln-191 of the amino acid sequence represented by UniProtKB:O75382-1. Example: UniProtKB:O75382-1, Gln-191, MOD:00685.


name: tripartite motif-containing protein 3 isoform Alpha (human)

description: A tripartite motif-containing protein 3 isoform 1 that is encoded in the genome of human.