methane biosynthetic process from methanol and hydrogen

The chemical reactions and pathways resulting in the formation of methane from methanol and hydrogen.


pentadec-1-ene biosynthetic process

biolink:BiologicalProcess biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:Occurrent biolink:OntologyClass biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

The chemical reactions and pathways resulting in the formation of pentadec-1-ene.


ethylene biosynthesis involved in jasmonic acid and ethylene-dependent systemic resistance

The chemical reactions and pathways resulting in the formation of ethylene (C2-H4, ethene), occurring as part of the process of jasmonic acid and ethylene-dependent systemic resistance.


benzene biosynthetic process

The chemical reactions and pathways resulting in the formation of benzene.


The chemical reactions and pathways resulting in the formation of 17-methylnonadec-1-ene.


alpha-zeacarotene biosynthetic process

The chemical reactions and pathways resulting in the formation of alpha-zeacarotene.


methane biosynthetic process from dimethylamine

The chemical reactions and pathways resulting in the formation of a methane from a dimethylamine.


The chemical reactions and pathways resulting in the formation of (Z)-nonadeca-1,14-diene.


beta-carotene biosynthetic process

The chemical reactions and pathways resulting in the formation of beta-carotene.


methane biosynthetic process from carbon monoxide

The chemical reactions and pathways resulting in the formation of a methane from a carbon monoxide.


methanogenesis, from carbon dioxide

The chemical reactions and pathways resulting in the formation of methane, a colorless, odorless, flammable gas with the formula CH4, from other compounds, including carbon dioxide (CO2).


terpene biosynthetic process

The chemical reactions and pathways resulting in the formation of terpenes, any of a large group of hydrocarbons made up of isoprene units.


methane biosynthetic process from formic acid

The chemical reactions and pathways resulting in the formation of a methane from a formic acid.


alkene biosynthetic process

The chemical reactions and pathways resulting in the formation of an alkene, any acyclic branched or unbranched hydrocarbon having one carbon-carbon double bond and the general formula CnH2n.


sesquarterpene biosynthetic process

The chemical reactions and pathways resulting in the formation of sesquarterpene.


beta-caryophyllene biosynthetic process

The chemical reactions and pathways resulting in the formation of beta-caryophyllene.


limonene biosynthetic process

The chemical reactions and pathways resulting in the formation of limonene (4-isopropenyl-1-methyl-cyclohexene), a monocyclic monoterpene.


nonadec-1-ene biosynthetic process

The chemical reactions and pathways resulting in the formation of nonadec-1-ene.


ent-kaurene biosynthetic process

The chemical reactions and pathways resulting in the formation of ent-kaurene. Ent-kaurene is a tetracyclic diterpenoid that is a precursor of several plant isoprenoids, including gibberellins.


beta-zeacarotene biosynthetic process

The chemical reactions and pathways resulting in the formation of beta-zeacarotene.


bicyclogermacrene biosynthetic process

The chemical reactions and pathways resulting in the formation of bicyclogermacrene.


diterpene phytoalexin precursor biosynthetic process pathway

A branched pathway that produces the precursors to four structurally distinct types of polycyclic diterpenes. The pathway starts with the cyclization of geranylgeranyl diphosphate into ent-copalyl diphosphate and syn-copalyl diphosphate. The catalytic conversion by diterpene cyclases of these two compounds produces the four diterpene hydrocarbons which are precursors to the four structurally distinct classes of diterpene phytoalexins.


isoprene biosynthetic process

The chemical reactions and pathways resulting in the formation of isoprene, C5H8.


phytoene biosynthetic process

The chemical reactions and pathways resulting in the formation of phytoene.


methane biosynthetic process from dimethyl sulfide

The chemical reactions and pathways resulting in the formation of a methane from a dimethyl sulfide.


toluene biosynthetic process

The chemical reactions and pathways resulting in the formation of toluene, a volatile monoaromatic hydrocarbon found in crude petroleum and petroleum products.


The chemical reactions and pathways resulting in the formation of (-)-exo-alpha-bergamotene.


ethylene biosynthetic process

The chemical reactions and pathways resulting in the formation of ethylene (C2-H4, ethene), a simple hydrocarbon gas that can function in plants as a growth regulator.


cadinene biosynthetic process

The chemical reactions and pathways resulting in the formation of cadinene.


The chemical reactions and pathways resulting in the formation of 18-methylnonadec-1-ene.


methane biosynthetic process from 3-(methylthio)propionic acid

The chemical reactions and pathways resulting in the formation of a methane from a 3-(methylthio)propionic acid.


1-undecene biosynthetic process

The chemical reactions and pathways resulting in the formation of 1-undecene.


culmorin biosynthetic process

The chemical reactions and pathways resulting in the formation of culmorin, a sesquiterpenoid fungal metabolite and mycotoxin produced by some ascomycete species such as Fusarium culmorum, F. graminearum, F. venenatum and Leptosphaeria oraemaris.


segment polarity determination

Division of the 14 parasegments of the embryo into anterior and posterior compartments; exemplified by the actions of the segment polarity gene products.


periodic partitioning

The regionalization process that divides the spatial regions of an embryo into serially repeated regions.


periodic partitioning by pair rule gene

Allocation of cells to parasegments in the embryo, through the action of overlapping series of pair rule gene activities.


penile bulb artery

biolink:GrossAnatomicalStructure biolink:AnatomicalEntity biolink:OrganismalEntity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:PhysicalEssence biolink:SubjectOfInvestigation biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

A short vessel of large caliber which arises from the internal pudendal between the two layers of fascia of the urogenital diaphragm; it passes medialward, pierces the inferior fascia of the urogenital diaphragm, and gives off branches which ramify in the bulb of the urethra and in the posterior part of the corpus spongiosum. It gives off a small branch to the bulbo-urethral gland.


COVID-19-Associated Ageusia

biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:ThingWithTaxon

Ageusia caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).


Benign Cardiac Germ Cell Tumor

biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:ThingWithTaxon

A non-metastasizing germ cell tumor that arises within the myocardium or cardiac chambers.


Malignant Pancreatic Insulinoma

An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas.  Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin. It displays vascular invasion and metastasizes to other anatomic sites.


otospondylomegaepiphyseal dysplasia, autosomal dominant

A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.


otospondylomegaepiphyseal dysplasia, autosomal recessive


fibrochondrogenesis 1

Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A1 gene.


Stickler syndrome type 2

Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases). Stickler syndrome type 2 is caused by mutations in the COL11A1 gene (1p21).


Marshall syndrome

Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.


TERT Deficiency

A condition of decreased or absent presence of telomerase reverse transcriptase. Deficiency of this protein is associated with autosomal dominant dyskeratosis congenital 2, autosomal recessive dyskeratosis congenita 4, telomere-related pulmonary fibrosis, and bone marrow failure 1.


Ovarian Dermoid Cyst with Melanoma

A secondary melanoma that has developed in an ovarian dermoid cyst.


gonadal teratoma

A teratoma that arises from the testis or ovary.


mature ovarian teratoma

An ovarian teratoma which may be cystic, composed entirely of well differentiated, adult-type tissues, without evidence of fetal-type tissues.


Grade 1 Ovarian Teratoma

A teratoma that arises from the ovary. It contains mature tissue elements and a limited amount of immature tissue elements.


Childhood Testicular Immature Teratoma

An immature teratoma that arises from the testis and occurs in children.


Ovarian Dermoid Cyst with Adenocarcinoma

A secondary adenocarcinoma that has developed in an ovarian dermoid cyst.


Stage I Ovarian Teratoma AJCC v6 and v7

Stage I includes: (T1, N0, M0). T1: Tumor limited to ovaries (one or both).  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th and 7th Eds.)


Ovarian Dermoid Cyst with Leiomyosarcoma

A secondary leiomyosarcoma that has developed in an ovarian dermoid cyst.


childhood immature teratoma of ovary

An immature teratoma that arises from the ovary and occurs in children.


Stage IV Ovarian Teratoma AJCC v6 and v7

Stage IV includes: Any T, Any N, M1. M1: Distant metastasis (excludes peritoneal metastasis). (AJCC 6th and 7th eds.)


Testicular Teratoma with Somatic-Type Malignancy

A testicular teratoma associated with a distinct secondary component that resembles a somatic-type malignant neoplasm (e.g., carcinoma or sarcoma).


struma ovarii

An ovarian mature teratoma characterized by the presence of aberrant thyroid tissue. The aberrant thyroid tissue shows morphologic changes identical to thyroid adenoma or carcinoma. Patients may present with abdominal mass and unusual symptoms due to thyrotoxicosis, or Meigs syndrome (ascites and pleural effusion).


Ovarian Dermoid Cyst with Somatic-Type Malignancy

An ovarian dermoid cyst associated with a distinct secondary component that resembles a somatic-type malignant neoplasm (e.g., carcinoma or sarcoma).


immature ovarian teratoma

A malignant germ cell tumor arising from the ovary. It usually affects females in their first two decades of life. It contains variable amounts of immature embryonal tissues. Based on the amount of immature neuroepithelial component, immature teratomas are graded from 1 to 3. The stage and grade of the tumor and the grade of the metastatic tumor are the important factors that predict prognosis. The use of cisplatin-based combination chemotherapy has significantly improved the survival rates of the patients.


Ovarian Dermoid Cyst with Secondary Carcinoma

A secondary carcinoma that has developed in an ovarian dermoid cyst.  In the majority of cases, the secondary carcinoma is a squamous cell carcinoma.


Ovarian Dermoid Cyst with Secondary Sebaceous Tumor

A secondary sebaceous adenoma or sebaceous carcinoma that has developed in an ovarian dermoid cyst.


Ovarian Teratoma with Carcinoid Tumor

An ovarian teratoma characterized by the presence of a neoplastic neuroendocrine component consistent with carcinoid tumor.


Strumal carcinoid

An ovarian neoplasm characterized by the presence of aberrant thyroid tissue and a carcinoid tumor. A minority of patients develop symptoms of functioning thyroid tissue. The neuroendocrine carcinoid cells infiltrate the aberrant thyroid tissue and progressively replace the follicular lining cells.


Stage I Immature Testicular Teratoma AJCC v6 and v7

Stage I includes: pT1-4, N0, M0, SX.  pT1: Tumor limited to the testis and epididymis without vascular/lymphatic invasion; tumor may invade into the tunica albuginea but not the tunica vaginalis.  pT2: Tumor limited to the testis and epididymis with vascular/lymphatic invasion, or tumor extending through the tunica albuginea with involvement of the tunica vaginalis.  pT3: Tumor invades the spermatic cord with or without vascular/lymphatic invasion.  pT4: Tumor invades the scrotum with or without vascular/lymphatic invasion.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  SX: Marker studies not available or not performed. (AJCC 6th and 7th eds.)


Ovarian Dermoid Cyst with Secondary Tumor

An adult-type tumor that has derived from an ovarian dermoid cyst.  Representative examples include dermoid cyst with secondary carcinoma, dermoid cyst with secondary sarcoma, and dermoid cyst with pituitary-type tumor.


Ovarian Dermoid Cyst with Secondary Sarcoma

A secondary sarcoma that has developed in an ovarian dermoid cyst.  Representative examples of secondary sarcomas include leiomyosarcoma, fibrosarcoma, and angiosarcoma.


ovarian biphasic or triphasic teratoma

A germ cell tumor that arises from the ovary and is composed of tissues that originate from two or three of the following germ layers, endoderm, ectoderm, or mesoderm.


Stage III Immature Testicular Teratoma AJCC v6 and v7

Stage III includes: Any pT/TX, Any N, M1, SX.  M1: Distant metastasis. SX: Marker studies not available or not performed.  (AJCC 6th and 7th eds.)


Childhood Testicular Teratoma

A teratoma that arises from the testis during childhood.


ovarian monodermal teratoma

A teratoma that arises from the ovary and is characterized by the presence of tissues derived exclusively from one embryonic germ cell layer.


Stage III Ovarian Teratoma AJCC v6 and v7

Stage III includes: T3, N0, M0. T3: Tumor involves one or both both ovaries with microscopically confirmed peritoneal metastasis outside pelvis. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


Ovarian Dermoid Cyst with Corticotropin Secreting Adenoma

A corticotropin secreting adenoma that has developed in an ovarian dermoid cyst.  It may present with Cushing syndrome.  The clinical course is benign.


Malignant Ovarian Teratoma

A teratoma that arises from the ovary. It is composed exclusively of immature tissue elements.


Ovarian Dermoid Cyst with Secondary Pituitary-Type Tumor

A secondary corticotropin secreting adenoma or prolactin secreting adenoma that has developed in an ovarian dermoid cyst.  The clinical course is benign.


Testicular Dermoid Cyst

A mature teratoma that arises from the testis and is characterized by the presence of one or more cysts.  The cysts are lined by squamous epithelium and contain skin appendages.  Other teratomatous components may or may not be present.


Monodermal Testicular Teratoma

A teratoma that arises from the testis.  It is composed exclusively of one of the following tissue types: endoderm, ectoderm, or mesoderm.


ovarian cystic teratoma

A teratoma that arises from the ovary and is characterized by the presence of cystic structures. Representative example is the dermoid cyst.


Ovarian Dermoid Cyst with Squamous Cell Carcinoma

A secondary squamous cell carcinoma that has developed in an ovarian dermoid cyst.


childhood teratoma of the ovary

A mature or immature teratoma that arises from the ovary and occurs in children.


Ovarian Dermoid Cyst with Sebaceous Carcinoma

A secondary sebaceous carcinoma that has developed in an ovarian dermoid cyst.


Stage II Immature Testicular Teratoma AJCC v6 and v7

Stage II includes: Any pT/TX, N1-3, M0, SX.  pTX: Primary tumor cannot be assessed.  N1: Metastasis with a lymph node mass 2 cm or less in greatest dimension; or multiple lymph nodes, none more than 2cm in greatest dimension.  N2: Metastasis with a lymph node mass more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, any one mass greater than 2 cm but not more than 5 cm in greatest dimension.  N3: Metastasis with a lymph node mass more than 5 cm in greatest dimension. M0: No distant metastasis. SX: Marker studies not available or not performed.  (AJCC 6th and 7th eds.)


ovarian fetiform teratoma

A rare type of teratoma that arises from the ovary and resembles a malformed fetus.


Ovarian Dermoid Cyst with Melanocytic Nevus

A secondary melanocytic nevus that has developed in an ovarian dermoid cyst.


Ovarian Dermoid Cyst with Sebaceous Adenoma

A secondary sebaceous adenoma that has developed in an ovarian dermoid cyst.


childhood mature teratoma of the ovary

A mature teratoma that arises from the ovary and occurs in children.


Ovarian Dermoid Cyst with Secondary Melanocytic Lesion

A secondary melanoma or melanocytic nevus that has developed in an ovarian dermoid cyst.


Mature Testicular Teratoma

A teratoma that arises from the testis and is composed of well differentiated, adult-type tissues.


Stage II Ovarian Teratoma AJCC v6 and v7

Stage II includes: T2, N0, M0. T2: Tumor involves one or both ovaries with pelvic extension and/or implants. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


Ovarian Dermoid Cyst with Prolactin Secreting Adenoma

A prolactin secreting adenoma that has developed in an ovarian dermoid cyst.  It may present with hyperprolactinemia and amenorrhea.  The clinical course is benign.


malignant teratoma of testis

A malignant teratoma that involves the testis.


Childhood Testicular Mature Teratoma

A mature teratoma that arises from the testis and occurs in children.


ovarian monodermal and highly specialized teratoma

A teratoma of the ovary composed exclusively or predominantly of a single type of tissue derived from the ectoderm or endoderm. A representative example is struma ovarii which is a teratoma composed exclusively or predominantly of thyroid tissue.


Ovarian Dermoid Cyst with Angiosarcoma

A secondary angiosarcoma that has developed in an ovarian dermoid cyst.


SAS acetyltransferase complex

biolink:CellularComponent biolink:AnatomicalEntity biolink:OrganismalEntity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:PhysicalEssence biolink:SubjectOfInvestigation biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

A protein complex that possesses histone acetyltransferase activity and links histone acetylation to the assembly of transcriptionally silent chromatin. In vitro, the complex acetylates lysine 16 of histone H4 and lysine 14 of histone H3, although the latter may not be relevant in vivo. The complex contains a catalytic subunit and at least two other subunits; in Saccharomyces, the catalytic subunit is Sas2p and additional subunits are Sas4p and Sas5p.


postsynaptic spectrin-associated cytoskeleton organization

A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of spectrin-associated cytoskeleton and associated proteins in the postsynapse.


postsynaptic cytoskeleton organization

A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising cytoskeletal filaments and their associated proteins in the postsynaptic cytoskeleton.


postsynaptic actin cytoskeleton organization

A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins in the postsynaptic actin cytoskeleton.


postsynaptic intermediate filament cytoskeleton organization

A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprised of intermediate filament and their associated proteins in the postsynaptic cytoskeleton.


left ventricular noncompaction 7

Any left ventricular noncompaction in which the cause of the disease is a mutation in the MIB1 gene.


dilated cardiomyopathy 1DD

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RBM20 gene.


dilated cardiomyopathy 1CC

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene.


46,XY sex reversal 4

Sex reversal in an individual associated with a 9p24.3 deletion.


Chagas cardiomyopathy

A disease of the cardiac muscle developed subsequent to the initial protozoan infection by trypanosoma cruzi. After infection, less than 10% develop acute illness such as myocarditis (mostly in children). The disease then enters a latent phase without clinical symptoms until about 20 years later. Myocardial symptoms of advanced chagas disease include conduction defects (heart block) and cardiomegaly.


Beckwith-Wiedemann syndrome due to CDKN1C mutation


dilated cardiomyopathy 1J

An extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure.


46,XY disorder of sex development due to testicular 17,20-desmolase deficiency


viral dilated cardiomyopathy

An dilated cardiomyopathy caused by infection with Viruses.


familial isolated arrhythmogenic ventricular dysplasia, right dominant form


DPM3-congenital disorder of glycosylation

DPM3-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy.


dilated cardiomyopathy 1AA

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTN2 gene.


LEOPARD syndrome 2

Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the RAF1 gene.


cardiomyopathy, familial hypertrophic, 28


left ventricular noncompaction 8

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PRDM16 gene.


cardiofaciocutaneous syndrome 3

Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K1 gene.


Noonan syndrome 1

Noonan syndrome caused by mutations in the PTPN11 gene.


DK1-congenital disorder of glycosylation

DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.


Noonan syndrome 8

Any Noonan syndrome in which the cause of the disease is a mutation in the RIT1 gene.


autosomal recessive limb-girdle muscular dystrophy type 2D

Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare.


Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene.


multiple acyl-CoA dehydrogenase deficiency

A disorder of fatty acid and amino acid oxidation, caused by mutations in ETFDH, ETFA, or ETFB, and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure.


familial isolated arrhythmogenic ventricular dysplasia, biventricular form


arrhythmogenic right ventricular dysplasia 6

An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12.


Noonan syndrome 11

Noonan syndrome caused by autosomal dominant mutation(s) in the MRAS gene, encoding Ras-related protein M-Ras.


Costello syndrome

Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.


Legius syndrome

Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple cafC)-au-lait macules with or without axillary or inguinal freckling.


hypertrophic cardiomyopathy 4

An autosomal dominant condition caused by mutation(s) in the MYBPC3 gene, encoding MYBPC3 protein. It is characterized by severe neonatal hypertrophic cardiomyopathy.


hypertrophic cardiomyopathy 14

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene.


Noonan syndrome 5

Any Noonan syndrome in which the cause of the disease is a mutation in the RAF1 gene.


dilated cardiomyopathy 1U

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN1 gene.


myotonic dystrophy type 1

Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness.


Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter.


arrhythmogenic right ventricular dysplasia 13

Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the CTNNA3 gene.


cardiomyopathy, dilated, 2c

A dilated cardiomyopathy that is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years and that has material basis in homozygous or compound heterozygous mutation in the PPCS gene on chromosome 1p34.


dilated cardiomyopathy 1L

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SGCD gene.


dilated cardiomyopathy 1X

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the FKTN gene.


arrhythmogenic right ventricular dysplasia 11

Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the DSC2 gene.


arrhythmogenic right ventricular dysplasia 8

Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSP gene.


Noonan syndrome 7

Any Noonan syndrome in which the cause of the disease is a mutation in the BRAF gene.


dilated cardiomyopathy 1C

A dilated cardiomyopathy that has material basis in mutation in the LDB3 gene on chromosome 10q23.2.


dilated cardiomyopathy 1M

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene.


arrhythmogenic right ventricular dysplasia 5

Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TMEM43 gene.


bacterial myocarditis

Myocarditis that is caused by an infection with a bacterial agent.


cardiac sarcoidosis

Sarcoidosis affecting the tissues of the heart.


dilated cardiomyopathy 1H

A dilated cardiomyopathy that has material basis in variation in the chromosome region 2q14-q22.


Loeffler endocarditis

Loeffler's endocarditis is a rare restrictive cardiomyopathy characterized by hypereosinophilia and fibrous thickening of the endocardium, with usually large thrombi against the ventricle walls, that can lead to cardiovascular complications such as heart failure and thromboembolism. It manifests with symptoms like edema, fatigue and shortness of breath. It is usually secondary to eosinophil-associated tissue damage and is associated with idiopathic hypereosinophilic syndrome, chronic eosinophilic leukemia, carcinoma, or lymphoma.


atrial standstill 1

Any atrial standstill in which the cause of the disease is a mutation in the GJA5 gene.


dilated cardiomyopathy 1R

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene.


alcoholic cardiomyopathy

A dilated cardiomyopathy which is associated with consumption of large amounts of alcohol over a period of years.


fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency


arrhythmogenic right ventricular dysplasia 3

An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22.


intrinsic cardiomyopathy

A cardiomyopathy that is due to abnormalities in heart muscle cells.


hypertrophic cardiomyopathy 26

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the FLNC gene.


very long chain acyl-CoA dehydrogenase deficiency

An inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.


interstitial myocarditis

Inflammation of the heart characterized by infiltration of the interstitial tissues by inflammatory cells, histiocytes, and the formation of granulomas. Giant cells are often present.


Beckwith-Wiedemann syndrome due to imprinting defect of 11p15


Beckwith-Wiedemann syndrome due to 11p15 microduplication


giant cell myocarditis

An often fatal inflammatory disorder that affects the myocardium. Morphologically, it is characterized by the presence of an inflammatory infiltrate in the myocardial tissue that includes multinucleated giant cells. It is often associated with the presence of an autoimmune disorder. Patients present with arrhythmias and/or heart failure. Heart transplantation is the only treatment option available.


dilated cardiomyopathy 1I

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DES gene.


hypertrophic cardiomyopathy 10

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL2 gene.


noonan syndrome 12

Noonan syndrome caused by autosomal dominant mutation(s) in the RRAS2 gene, encoding Ras-related protein R-Ras2.


glycogen storage disease due to acid maltase deficiency, infantile onset

Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal.


Hurler syndrome

Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.


cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2

Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COX15 gene.


familial isolated restrictive cardiomyopathy

Familial restrictive cardiomyopathy is a genetic form of heart disease, in which the heart muscle is stiff and cannot fully relax after each contraction. Impaired muscle relaxation causes blood to back up in the atria and lungs, which reduces the amount of blood in the ventricles.


LEOPARD syndrome 1

Any Noonan syndrome with multiple lentigines in which the cause of the disease is a heterozygous mutation in the PTPN11 gene on chromosome 12q24.


cardiomyopathy, dilated, 2E

A dilated cardiomyopathy that is characterized by neonatal or early childhood onset of dilated cardiomyopathy, with rapid progression to cardiac failure and death unless patients undergo cardiac transplantation and that has material basis in homozygous or compound heterozygous mutation in the JPH2 gene on chromosome 20q13.


cardiomyopathy, dilated, 1MM

A dilated cardiomyopathy that has material basis in heterozygous mutation in the MYBPC3 gene on chromosome 11p11.


Becker muscular dystrophy

Becker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.


autosomal recessive Emery-Dreifuss muscular dystrophy

Autosomal recessive form of Emery-Dreifuss muscular dystrophy.


X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present.


Emery-Dreifuss muscular dystrophy

Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy.


dilated cardiomyopathy 1EE

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene.


hypertrophic cardiomyopathy 13

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene.


myofibrillar myopathy 1

A rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure.


hypertrophic cardiomyopathy 11

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene.


Duchenne and Becker muscular dystrophy

Duchenne and Becker muscular dystrophies (DMD and BMD) are neuromuscular diseases characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.


dilated cardiomyopathy 1KK

Any dilated cardiomyopathy in which the cause of the disease is a mutation in the MYPN gene.


Noonan syndrome 4

Any Noonan syndrome in which the cause of the disease is a mutation in the SOS1 gene.


cardiomyopathy, dilated, 2F

A dilated cardiomyopathy that is characterized by refractory ventricular arrhythmias and severe heart failure and that has material basis in homozygous mutation in the BAG5 gene on chromosome 14q32.


diphtheritic myocarditis

An myocarditis caused by infection with Corynebacterium diphtheriae.


hypertrophic cardiomyopathy 15

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the VCL gene.


MYH7-related late-onset scapuloperoneal muscular dystrophy


arrhythmogenic right ventricular dysplasia 12

Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the JUP gene.


hypertrophic cardiomyopathy 18

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PLN gene.


Emery-Dreifuss muscular dystrophy 7, autosomal dominant

Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the TMEM43 gene.


atrial standstill 2

Any atrial standstill in which the cause of the disease is a mutation in the NPPA gene.


long chain acyl-CoA dehydrogenase deficiency

A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy.


cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies


hypertrophic cardiomyopathy 7

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene.


glutaric acidemia IIc

Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFDH gene.


dilated cardiomyopathy 1NN

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RAF1 gene.


peripartum cardiomyopathy

Peripartum cardiomyopathy (PPCM) is an idiopathic, potentially fatal form of dilated cardiomyopathy that develops during the final month of pregnancy or within five months after delivery.


familial isolated dilated cardiomyopathy

Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia.


cardiofaciocutaneous syndrome 1

Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the BRAF gene.


left ventricular noncompaction 1

Any left ventricular noncompaction in which the cause of the disease is a mutation in the DTNA gene.


Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion


cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1

Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the SCO2 gene.


dilated cardiomyopathy 2A

A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.


Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE2 gene.


familial cardiomyopathy

An instance of cardiomyopathy that is caused by an inherited modification of the individual's genome.


glutaric acidemia IIb

Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFB gene.


dilated cardiomyopathy 1S

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene.


dilated cardiomyopathy 1GG

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SDHA gene.


primary localized amyloidosis

Primary localized amyloidosis is a form of AL amyloidosis caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin.


dilated cardiomyopathy 1E

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SCN5A gene.


Noonan syndrome 6

Any Noonan syndrome in which the cause of the disease is a mutation in the NRAS gene.


hypertrophic cardiomyopathy 19

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CALR3 gene.


dilated cardiomyopathy 1D

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene.


cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4

Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA6 gene.


dilated cardiomyopathy 1P

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PLN gene.


hypertrophic cardiomyopathy 21

A hypertrophic cardiomyopathy associated that has material basis in region 7p12.1-q21 variation.


Noonan syndrome 13

Noonan syndrome caused by autosomal dominant mutation(s) in the MAPK1 gene, encoding mitogen-activated protein kinase 1.


non-compaction cardiomyopathy

Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates.


arrhythmogenic right ventricular dysplasia, familial, 14


X-linked scapuloperoneal muscular dystrophy (X-linked SPMD) is a skeletal muscle disease characterized by late onset, co-occurrence of scapular and peroneal muscle weakness, and scapular winging.


hypertrophic cardiomyopathy 3

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene.


LEOPARD syndrome 3

Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the BRAF gene.


cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction


hypertrophic cardiomyopathy 12

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene.


progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome

Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy.


dilated cardiomyopathy 1JJ

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the LAMA4 gene.


hypertrophic cardiomyopathy 16

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYOZ2 gene.


dilated cardiomyopathy 1FF

A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.42.


dilated cardiomyopathy 1Z

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene.


arrhythmogenic right ventricular dysplasia 9

Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the PKP2 gene.


Noonan syndrome with multiple lentigines

A rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.


Noonan syndrome

Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects.


X-linked Emery-Dreifuss muscular dystrophy

X-linked form of Emery-Dreifuss muscular dystrophy.


episodic angioedema with eosinophilia

A disorder characterized by episodes of swelling under the skin (angioedema) and an elevated number of the white blood cells known as eosinophils (eosinophilia). During these episodes, symptoms of hives (urticaria), fever, swelling, weight gain and eosinophilia may occur. Symptoms usually appear every 3-4 weeks and resolve on their own within several days. Other cells may be elevated during the episodes, such as neutrophils and lymphocytes. Although the syndrome is often considered a subtype of the idiopathic hypereosinophilic syndromes, it does not typically have organ involvement or lead to other health concerns.


familial hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions.


cardiomyopathy, familial restrictive, 1

Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene.


dilated cardiomyopathy 1BB

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene.


familial restrictive cardiomyopathy

An instance of restrictive cardiomyopathy that is caused by an inherited modification of the individual's genome.


familial dilated cardiomyopathy

A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.


fatal infantile encephalocardiomyopathy

Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy.


Noonan syndrome 9

Any Noonan syndrome in which the cause of the disease is a mutation in the SOS2 gene.


multiple acyl-CoA dehydrogenase deficiency, severe neonatal type


hypertrophic cardiomyopathy 8

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL3 gene.


ATTRV122I amyloidosis

Transthyretin (TTR)-related familial amyloidotic cardiomyopathy is a hereditary TTR-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein.


extrinsic cardiomyopathy

A cardiomyopathy that is not due to abnormalities in heart muscle cells.


cardiomyopathy, familial restrictive, 3

Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene.


dilated cardiomyopathy 3B

Any dilated cardiomyopathy in which the cause of the disease is a mutation in the DMD gene.


rheumatic myocarditis

Inflammation of the myocardium in acute rheumatic heart disease.


Keshan disease

A congestive cardiomyopathy caused by a combination of dietary deficiency of selenium and the presence of a mutated strain of Coxsackievirus.


Noonan syndrome 10

Any Noonan syndrome in which the cause of the disease is a mutation in the LZTR1 gene.


cardiofaciocutaneous syndrome

Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.


Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations.


autosomal dominant Emery-Dreifuss muscular dystrophy

Autosomal dominant form of Emery-Dreifuss muscular dystrophy.


arrhythmogenic right ventricular dysplasia 1

Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TGFB3 gene.


Noonan syndrome-like disorder with loose anagen hair 1

An inherited condition caused by autosomal dominant mutation(s) in the SHOC2 gene, encoding leucine-rich repeat protein SHOC-2. The condition is characterized by facial features similar to those seen in Noonan syndrome but may also include short stature, cognitive deficits, relative macrocephaly, small posterior fossa resulting in Chiari I malformation, hypernasal voice, cardiac defects, and ectodermal abnormalities, which typically presents as slow-growing, sparse, and/or unruly hair.


dilated cardiomyopathy 1HH

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the BAG3 gene.


PGM1-congenital disorder of glycosylation


primary systemic amyloidosis

Primary systemic amyloidosis (PSA) is a form of AL amyloidosis caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by multiple organ involvement.


dilated cardiomyopathy 1G

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TTN gene.


eosinophilia-myalgia syndrome

A complex systemic syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart. Diagnostic features generally include eosinophilia, myalgia severe enough to limit usual activities of daily living, and the absence of coexisting infectious, autoimmune or other conditions that may induce eosinophilia. Biopsy of affected tissue reveals a microangiopathy associated with diffuse inflammation involving connective tissue. (From Spitzer et al., J Rheumatol Suppl 1996 Oct;46:73-9; Blackburn wd, Semin Arthritis Rheum 1997 Jun;26(6):788-93)


46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome


Beckwith-Wiedemann syndrome due to NSD1 mutation


Emery-Dreifuss muscular dystrophy 6, X-linked


hypereosinophilia of undetermined significance

Long-lasting, unexplained and asymptomatic blood hypereosinophilia.


Beckwith-Wiedemann syndrome due to 11p15 microdeletion


glutaric acidemia IIa

Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFA gene.


Noonan syndrome-like disorder with loose anagen hair 2

An inherited condition caused by autosomal dominant mutation(s) in the PPP1CB gene, encoding serine/threonine-protein phosphatase PP1-beta catalytic subunit. The condition is characterized by facial features similar to those seen in Noonan syndrome but may also include short stature, cognitive deficits, relative macrocephaly, small posterior fossa resulting in Chiari I malformation, hypernasal voice, cardiac defects, and ectodermal abnormalities, which typically presents as slow-growing, sparse, and/or unruly hair.


dilated cardiomyopathy 1Q

A dilated cardiomyopathy that has material basis in variation in the chromosome region 7q22.3-q31.1.


disseminated eosinophilic collagen disease


glycogen storage disease due to acid maltase deficiency, late-onset

Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes.


hypertrophic cardiomyopathy 17

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the JPH2 gene.


arrhythmogenic right ventricular dysplasia 10

Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene.


dilated cardiomyopathy 1O

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ABCC9 gene.


arrhythmogenic right ventricular cardiomyopathy

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death.


glycogen storage disease II

Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. Early onset forms are more severe and often fatal.


Noonan syndrome and Noonan-related syndrome


hypertrophic cardiomyopathy 20

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene.


dilated cardiomyopathy 1V

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN2 gene.


dilated cardiomyopathy 1B

A dilated cardiomyopathy that has material basis in variation in the chromosome region 9q13.


Barth syndrome

Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.


left ventricular noncompaction 10

Any left ventricular noncompaction in which the cause of the disease is a mutation in the MYBPC3 gene.


cardiofaciocutaneous syndrome 2

Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the KRAS gene.


long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy.


hypertrophic cardiomyopathy 2

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene.


dilated cardiomyopathy 1W

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the VCL gene.


acute myocarditis

The sudden onset of inflammation of heart muscle with myocellular necrosis; this is generally secondary to an infectious cause, and patients often have a recent history of a flu-like illness.


autoimmune myocarditis

Autoimmune myocarditis is an autoimmune disease that affects the heart. The condition is characterized by inflammation of the heart muscle (myocardium). Some people with autoimmune myocarditis have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. The exact underlying cause of the condition is currently unknown; however, autoimmune conditions, in general, occur when the immune system mistakenly attacks healthy tissue. Treatment is based on the signs and symptoms present in each person. In some cases, medications that suppress the immune system may be recommended.


viral myocarditis

Myocarditis that is caused by an infection with a viral agent.


early-onset myopathy with fatal cardiomyopathy


hypertrophic cardiomyopathy due to intensive athletic training


Noonan syndrome 3

Any Noonan syndrome in which the cause of the disease is a mutation in the KRAS gene.


Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE1 gene.


autosomal recessive limb-girdle muscular dystrophy type 2F

Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal.


idiopathic cardiomyopathy

A disease of the heart muscle or myocardium proper whose cause is unknown.


muscular dystrophy, pseudohypertrophic, with Internalized capillaries


hypertrophic cardiomyopathy 25

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TCAP gene.


autosomal recessive limb-girdle muscular dystrophy type 2C

Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.


hypertrophic cardiomyopathy 6

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PRKAG2 gene.


AL amyloidosis

AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor. It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA) restricted to a single organ.


familial isolated arrhythmogenic ventricular dysplasia, left dominant form


cirrhotic cardiomyopathy

Cirrhotic cardiomyopathy is the term used to describe a constellation of features indicative of abnormal heart structure and function in patients with cirrhosis. These include systolic and diastolic dysfunction, electrophysiological changes, and macroscopic and microscopic structural changes.


symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers

Symptomatic forms of Duchenne and Becker muscular dystrophies (DMD and BMD) in females carriers are characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation.


cardiomyopathy, dilated, 2G

A dilated cardiomyopathy that is characterized by early-onset severe dilated cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy and that has material basis in homozygous or compound heterozygous mutation in the LMOD2 gene on chromosome 7q31.


Gaucher disease type I

Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia.


An instance of hypertrophic cardiomyopathy that is acquired during the lifetime of the individual.


dilated cardiomyopathy 1II

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CRYAB gene.


Noonan syndrome 2

Noonan syndrome caused by autosomal recessive mutation(s) in the LZTR1 gene, encoding leucine-zipper-like transcriptional regulator 1.


Naxos disease

A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma.


46,XY sex reversal 1

Sex reversal in an individual with 46,XY karyotype caused by point mutations or deletions in the SRY gene, encoding sex-determining region Y protein.


cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3

Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA5 gene.


autosomal recessive limb-girdle muscular dystrophy type 2E

Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.


Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.


arrhythmogenic right ventricular dysplasia 4

An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3.


multiple acyl-CoA dehydrogenase deficiency, mild type


autosomal recessive limb-girdle muscular dystrophy type 2W

Autosomal recessive limb-girdle muscular dystrophy type 2W is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration.


cardiomyopathy, familial hypertrophic 27

An autosomal recessive subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the ALPK3 gene, encoding alpha-protein kinase 3.


autoimmune cardiomyopathy

An autoimmune form of cardiomyopathy.


dilated cardiomyopathy 1K

A dilated cardiomyopathy that has material basis in variation in the chromosome region 6q12-q16.


dilated cardiomyopathy 1Y

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene.


hypertrophic cardiomyopathy 9

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TTN gene.


cardiofaciocutaneous syndrome 4

Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K2 gene.


Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11


familial isolated arrhythmogenic right ventricular dysplasia

Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC, a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms.


dilated cardiomyopathy 2B

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the GATAD1 gene.


congenital-onset Steinert myotonic dystrophy


cardiomyopathy, dilated, 2D

A dilated cardiomyopathy that is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation and that has material basis in homozygous or compound heterozygous mutation in the RPL3L gene on chromosome 16p13.


Emery-Dreifuss muscular dystrophy 3, autosomal recessive

Any autosomal recessive Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the LMNA gene.


catecholaminergic polymorphic ventricular tachycardia 1

Polymorphic ventricular tachycardia induced by adrenergic stress. It is inherited in an autosomal dominant pattern and is caused by mutations in the ryanodine receptor 2 (RYR2) gene.


dilated cardiomyopathy 1A

Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase.


Noonan syndrome-like disorder with loose anagen hair

Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome ; a distinctive hair anomaly described as loose anagen hair syndrome ; frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis ; and short stature, often associated with a GH deficiency and psychomotor delays.


tropical endomyocardial fibrosis

Tropical endomyocardial fibrosis is a restrictive cardiopathy, occuring almost exclusively in children and young adults in tropical and subtropical regions, characterized by endocardial fibrosis, affecting the apices and the inflow tract of the right or left ventricle (or both) and manifesting with a restrictive cardimyopathy and atrioventricular regurgitation leading to severe pulmonary hypertension, very high systemic venous pressure and congestive cardiac failure. Suspected etiologies include helminth and protozoal infestation and malnutrition.


NKX2.5-related congenital, conduction and myopathic heart disease

A heart disease that includes congenital heart defects, abnormal cardiac conduction or myopathy. Congenital heart defects consists of any heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and hypoplastic left heart syndrome.


mixed cerebral palsy

A subtype of cerebral palsy characterized by both the tight muscle tone of spastic cerebral palsy and the writhing, involuntary muscle movements of athetoid cerebral palsy.


Stage IB Fallopian Tube Cancer AJCC v8

Stage IB includes: T1b, N0, M0. T1b: Fallopian tube cancer with tumor limited to fallopian tubes; no tumor on fallopian tube surface; no malignant cells in ascites or peritoneal washings. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


benign neoplasm of spinal cord

A benign neoplasm that involves the spinal cord.


Sacral Chordoma

A chordoma that arises from the sacral area.


sacral spinal canal and spinal cord meningioma

A meningioma that arises from the meninges of the sacral region of the spinal cord.


Lumbar Spine Neoplasm

A benign or malignant neoplasm that affects the lumbar region of the spine.


spinal cord lymphoma

A non-Hodgkin or Hodgkin lymphoma that arises in the spinal cord as a primary lesion.


childhood spinal cord tumor

A benign or malignant neoplasm affecting the spinal cord during childhood.


spinal chordoma

A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the spine. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells.


intradural extramedullary spinal canal neoplasm

A neoplasm that occurs within the spinal canal in the space between the spinal cord and the dura mater. Representative examples include meningioma, neurofibroma, and sarcoma. Signs and symptoms include local and radicular pain, weakness and spinal cord compression.


thoracic spinal canal and spinal cord meningioma

A meningioma that arises from the meninges of the thoracic region of the spinal cord.


lumbar spinal canal and spinal cord meningioma

A meningioma that arises from the meninges of the lumbar region of the spinal cord.


spinal cord sarcoma

A sarcoma that arises from the spinal cord.


intraspinal meningioma

A meningioma that arises from the spinal meninges.


epidural spinal canal neoplasm

A primary or metastatic neoplasm that involves the space between the vertebral periosteum and dura mater that surrounds the spinal cord.


Cervical Spine Neoplasm

A benign or malignant neoplasm that affects the neck region of the spine.


Recurrent Childhood Spinal Cord Neoplasm

The reemergence of a spinal cord neoplasm in childhood after a period of remission.


Lumbosacral Spine Neoplasm

A benign or malignant neoplasm that affects the lumbosacral region of the spine.


epidural spinal canal angiolipoma

An uncommon lipoma characterized by prominent vascularity that arises in the epidural space of the spinal canal.


cauda equina neuroendocrine tumor

A cauda equina neoplasm that is a slow-growing, well-differentiated neuroendocrine tumor arising from the cauda equina.


Refractory Childhood Spinal Cord Neoplasm

Spinal cord neoplasm in childhood which is resistant to treatment.


spinal multifocal clear cell meningioma

A clear cell meningioma arising in multiple areas of the spinal cord characterized by the presence of clear glycogen-rich polygonal cells.


multiple spinal canal and spinal cord meningioma

Multiple meningiomas that arises from the spinal meninges.


Drop Metastasis in the Spinal Cord

An intradural extramedullary spinal metastasis from an intracranial tumor through the cerebrospinal fluid.


metastatic malignant neoplasm in the spinal cord

A malignant neoplasm that has spread to the spinal cord from another anatomic site or system. Representative examples include carcinoma, lymphoma, and melanoma.


spinal cord melanoma

A melanoma (disease) that involves the spinal cord.


Anaplastic (Malignant) Intraspinal Meningioma

An anaplastic (malignant) meningioma involving the spinal meninges.


conus medullaris neoplasm

A neoplasm (disease) that involves the conus medullaris.


Sacral Spine Neoplasm

A benign or malignant neoplasm that affects the sacral region of the spine.


Recurrent Adult Spinal Cord Neoplasm

The reemergence of a spinal cord neoplasm in adulthood after a period of remission.


Refractory Adult Spinal Cord Neoplasm

Spinal cord neoplasm in adulthood which is resistant to treatment.


Refractory Spinal Cord Neoplasm

Spinal cord neoplasm resistant to treatment.


lumbosacral lipoma

A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within the lumbosacral tissue of the spine.


Childhood Spinal Cord Ependymoma

An ependymoma of the spinal cord not associated with MYCN amplification and occurring in children.


epidural spinal canal meningioma

A meningioma that arises in the epidural spinal canal space.


Thoracic Chordoma

A chordoma that arises from the thoracic spine.


cauda equina neoplasm

A neoplasm involving a cauda equina.


Thoracic Spine Neoplasm

A benign or malignant neoplasm that affects the thoracic region of the spine.


Intraspinal Neoplasm

A neoplasm that occurs within the spinal canal including the spinal cord and surrounding paraspinal spaces.


cervical spinal canal and spinal cord meningioma

A meningioma that arises from the meninges of the cervical region of the spinal cord.


spinal cord lipoma

A benign adipose tissue neoplasm of the spinal cord. It is usually associated with dysraphism in which the intraspinal component communicates with a subcutaneous lipoma through a defect in the posterior elements of the spine. Non-dysraphic intramedullary spinal cord lipomas are very rare.


Recurrent Spinal Cord Neoplasm

The reemergence of a spinal cord neoplasm after a period of remission.


epididymal adenomatoid tumor

A benign, usually asymptomatic small mesothelial tumor that arises from the epididymis.


adenomatoid tumor

A benign neoplasm arising from mesothelial cells. It is characterized by the formation of glandular and tubular patterns. It can occur in several anatomic sites including the pleura, peritoneum, and epididymis.


pleural adenomatoid tumor

A rare benign neoplasm that arises from the mesothelial cells of the pleura. It is characterized by a proliferation of epithelioid cells forming glandular and tubular patterns in a fibrous stroma.


uterine corpus adenomatoid tumor

A benign mesothelial tumor of the serosal surface of the uterine body and myometrium. It is characterized by the presence of gland-like structures.


fallopian tube adenomatoid tumor

A benign neoplasm that arises from the fallopian tube and originates from mesothelial cells. It is characterized by the presence of gland-like structures that are lined by flat or cuboidal cells. It is usually discovered as an incidental finding.


specification of decreased petal number

Any process that reduces the number of petals produced in a developing flower.


specification of plant organ number

The regionalization process that modulates the quantity of a particular type of plant organ.


specification of increased petal number

Any process that increases the number of petals produced in a developing flower.


specification of floral organ number

Any process that modulates the number of floral organs formed in a floral whorl.


specification of petal number

Any process that modulates the number of petals formed in a flower.


Bladder Non-Invasive Papillary Urothelial Carcinoma, High Grade

Bladder non-invasive papillary urothelial carcinoma characterized by marked architectural and cytologic abnormalities and frequent mitotic figures (at all levels of the urothelium).


Stage 0a Renal Pelvis and Ureter Cancer AJCC v7

Stage 0a includes: Ta, N0, M0. Ta: Papillary noninvasive carcinoma. N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Bladder Urothelial Proliferation of Uncertain Malignant Potential

Marked thickening of the bladder urothelium with minimal or absent cytologic atypia and absence of true papillary formations. It is found most commonly on routine follow-up cystoscopy in patients with a history of papillary urothelial neoplasms. (WHO 2016)


Stage 0a Bladder Cancer AJCC v8

Stage 0a includes: Ta, N0, M0. Ta: Non-invasive papillary carcinoma. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


bladder flat intraepithelial lesion

A non-papillary neoplasm of the urinary bladder, whose classification categories include low-grade intraurothelial neoplasia and urothelial carcinoma in situ.


Stage 0 Renal Pelvis and Ureter Cancer AJCC v7

Stage 0 includes: 0a (Ta, N0, M0); 0is (Tis, N0, M0).  Ta: Papillary noninvasive carcinoma. Tis: Carcinoma in situ.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Non-invasive papillary urothelial carcinoma of bladder

Papillary urothelial neoplastic proliferation in the bladder with some level of cytological and architectural disorder visible at low to intermediate magnification, with no invasion beyond the basement membrane (Ta). (WHO 2016)


Bladder Non-Invasive Urothelial Neoplasm

A non-invasive bladder neoplasm affecting the urothelium.


Stage 0is Renal Pelvis Cancer AJCC v8

Stage 0is includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Stage 0is Bladder Cancer AJCC v8

Stage 0is includes: Tis, N0, M0. Tis: Urothelial carcinoma in situ: "flat tumor". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Stage 0a Renal Pelvis and Ureter Cancer AJCC v8

Stage 0a includes: Ta, N0, M0. Ta: Papillary noninvasive carcinoma. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Stage 0is Renal Pelvis and Ureter Cancer AJCC v8


Stage 0is Renal Pelvis and Ureter Cancer AJCC v7

Stage 0is includes: Tis, N0, M0.  Tis: Carcinoma in situ.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Bladder Non-Invasive Papillary Urothelial Carcinoma, Low Grade

Bladder non-invasive papillary urothelial carcinoma characterized by minimal cytologic atypia and infrequent mitotic figures (usually limited to the lower half of the tumor). This type of carcinoma recurs frequently, may invade the bladder wall, and has a low risk of progression.


lysosomal proton-transporting V-type ATPase complex

A proton-transporting two-sector ATPase complex found in the lysosomal membrane, where it acts as a proton pump to mediate acidification of the lysosomal lumen.


anterior cranial fossa meningioma

A meningioma that affects the anterior cranial fossa.


olfactory groove meningioma

A meningioma that affects the olfactory sulcus.


cerebral falx meningioma

A meningioma that affects the falx cerebri.


cavernous sinus meningioma

A meningioma that affects the cavernous sinus.


positive regulation of hair placode formation

Any process that increases the rate, frequency, or extent of hair follicle placode formation, the developmental process in which a hair placode forms. An hair follicle placode is a thickening of the ectoderm that will give rise to the hair follicle bud.


negative regulation of presynaptic active zone assembly

Any process that stops, prevents or reduces the frequency, rate or extent of presynaptic active zone assembly.


negative regulation of presynapse assembly

Any process that stops, prevents or reduces the frequency, rate or extent of presynapse assembly.


cellular response to diamide

Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a diamide (N,N,N',N'-tetramethyldiazene-1,2-dicarboxamide) stimulus.


cortisone reductase deficiency 2

Decreased activity of the enzyme 11-beta-hydroxysteroid dehydrogenase type 1 due to inactivating mutation(s) in the HSD11B1 gene. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from H6PD deficiency.


negative regulation of low-density lipoprotein particle receptor binding

Any process that stops, prevents or reduces the frequency, rate or extent of low-density lipoprotein particle receptor binding.


negative regulation of glutamatergic neuron differentiation

Any process that stops, prevents or reduces the frequency, rate or extent of glutamatergic neuron differentiation.


benign myoepithelioma of salivary gland

A rare benign tumor composed of sheets and islands of spindle, plasmacytoid, epithelioid, and clear cells that exhibit myoepithelial but not ductal differentiation. The average age of patients has been reported as 44 years. Clinically, these tumors present as asymptomatic masses. Discrimination between myoepithelioma and myoepithelial carcinoma is based primarily on the infiltrative growth of the latter.


autosomal dominant coarctation of aorta

Autosomal dominant form of aorta coarctation.


thiazolidinemonocarboxylic acid

A thiazolidine or thiazolidine derivative carrying a single carboxy substituent.


biolink:MolecularActivity biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:Occurrent biolink:OntologyClass biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

Catalysis of the reaction: 2-keto-3-deoxygalactonate = D-glyceraldehyde + pyruvate.


cellular response to acetylcholine

Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an acetylcholine stimulus.


platelet maturation

A developmental process, independent of morphogenetic (shape) change, that is required for a platelet to attain its fully functional state. A platelet is a non-nucleated disk-shaped cell formed by extrusion from megakaryocytes, found in the blood of all mammals, and mainly involved in blood coagulation.


positive regulation of opsonization

Any process that activates or increases the frequency, rate or extent of opsonization.


fibromatosis, gingival, 1

Any gingival fibromatosis in which the cause of the disease is a mutation in the SOS1 gene.


Malposition of heart and cardiac apex

Any anatomical misplacement of the heart and cardiac apex such that the organ occupies an unusual location within the body.


lipoid proteinosis

Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications.


dorsal hypohyal-ventral hypohyal joint

Joint that articulates the dorsal hypohyal and ventral hypohyal bones. Dorsal hypohyal-ventral hypohyal joint is paired.


visceral yolk sac

Extraembryonic tissue membrane, formed from the visceral endoderm and the extraembryonic mesoderm, which is located ventral to the embryonic disc and is connected to the presumptive midgut of the embryo; the yolk that it contains is the site of embryonic hematopoiesis and vitelline circulation is involved in early embryonic circulation; it is the origin of the primordial germ cells.


membranous layer

A thin sheet or layer of pliable tissue, serving as a covering or envelope of a part, as the lining of a cavity, as a partition or septum, or to connect two structures.


pericranium

Periosteum that is part of a skull.


endosteum

A thin layer of connective tissue that lines the surface of the bony tissue that forms the medullary cavity of long bones.


periosteum of long bone

A periosteum that is part of a long bone.


periosteum of epiphysis

A periosteum that is part of a epiphysis [Automatically generated definition].


yolk sac

A sac-like expansion of the ventral wall of the intestine, narrowed into a yolk stalk near the body[Hyman's]. Membranous sac attached to an embryo, providing early nourishment in the form of yolk in bony fishes, sharks, reptiles, birds, and primitive mammals. It functions as the developmental circulatory system of the human embryo, before internal circulation begins. In the mouse, the yolk sac is the first site of blood formation, generating primitive macrophages and erythrocytes[WP].


aponeurosis

A sheet of extracellular matrix.


parietal yolk sac

Tissue that consists of two cellular layers (parietal endoderm and trophoblast) separated by a relatively thick nonvascular basement membrane (Reichert's membrane), and acts as a protective layer to supports and facilitates transport of nutrients between the uterine tissue and the yolk sac cavity.


Scrotal Sebaceous Cyst

A firm nodule on the skin of the scrotum that is caused by an accumulation of sebum resulting from sebaceous gland blockage.


Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: auxin(out) + H+(out) = auxin(in) + H+(in).


parasympathetic cholinergic nerve

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

A parasympathetic nerve that releases acetylcholine.


parasympathetic nerve

A nerve that is part of a parasympathetic nervous system [Automatically generated definition].


short ciliary nerve

A branch of the ciliary ganglion that innervates the ciliary muscles, the iris, and the tunics of the eyeball.


descending branch of the vagus nerve

Major branch of the vagus supplying parasympathetic innervation to viscera.


pelvic splanchnic nerve

A splanchnic nerves that arises from sacral spinal nerves S2, S3, S4 to provide parasympathetic innervation to the hindgut.


Intratubular malignant germ cells

A non-invasive lesion of the testis, characterized by the presence of malignant large germ cells with abundant cytoplasm in the seminiferous tubules. It may be associated with undescended or atrophic testis and infertility. The vast majority of cases progress to invasive germ cell tumors.


Testicular Cancer by AJCC v6 and v7 Stage

A term that refers to the staging of testicular cancer according to the American Joint Committee on Cancer, 6th and 7th editions.


Stage IB Testicular Cancer AJCC v6 and v7

Stage IB includes: (pT2, N0, M0, S0); (pT3, N0, M0, S0); (pT4, N0, M0, S0).  pT2: Tumor limited to the testis and epididymis with vascular/lymphatic invasion, or tumor extending through the tunica albuginea with involvement of the tunica vaginalis.  pT3: Tumor invades the spermatic cord with or without vascular/lymphatic invasion.  pT4: Tumor invades the scrotum with or without vascular/lymphatic invasion.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  S0: Marker study levels within normal limits. (AJCC 6th and 7th eds.)


Stage IIB Testicular Cancer AJCC v6 and v7

Stage IIB includes: (Any pT/TX, N2, M0, S0); (Any pT/TX, N2, M0, S1).  pTX: Primary tumor cannot be assessed.  N2: Metastasis with a lymph node mass more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, any one mass greater than 2 cm but not more than 5 cm in greatest dimension.  M0: No distant metastasis. S0: Marker study levels within normal limits. S1: LDH less than 1.5 x N (N indicates the upper limit of normal for the LDH assay) and hCG less than 5,000 and AFP less than 1,000.  (AJCC 6th and 7th eds.)


Testicular choriocarcinoma stage II

Stage II includes: Any pT/TX, N1-3, M0, SX.  pTX: Primary tumor cannot be assessed.  N1: Metastasis with a lymph node mass 2 cm or less in greatest dimension; or multiple lymph nodes, none more than 2cm in greatest dimension.  N2: Metastasis with a lymph node mass more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, any one mass greater than 2 cm but not more than 5 cm in greatest dimension.  N3: Metastasis with a lymph node mass more than 5 cm in greatest dimension. M0: No distant metastasis. SX: Marker studies not available or not performed.  (AJCC 6th and 7th eds.)


Stage I Testicular Non-Seminomatous Germ Cell Tumor AJCC v6 and v7

Stage I includes: pT1-4, N0, M0, SX.  pT1: Tumor limited to the testis and epididymis without vascular/lymphatic invasion; tumor may invade into the tunica albuginea but not the tunica vaginalis.  pT2: Tumor limited to the testis and epididymis with vascular/lymphatic invasion, or tumor extending through the tunica albuginea with involvement of the tunica vaginalis.  pT3: Tumor invades the spermatic cord with or without vascular/lymphatic invasion.  pT4: Tumor invades the scrotum with or without vascular/lymphatic invasion.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  SX: Marker studies not available or not performed. (AJCC 6th and 7th eds.)


Stage IA Testicular Cancer AJCC v6 and v7

Stage IA includes: pT1, N0, M0, S0.  pT1: Tumor limited to the testis and epididymis without vascular/lymphatic invasion; tumor may invade into the tunica albuginea but not the tunica vaginalis.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  S0: Marker study levels within normal limits. (AJCC 6th and 7th eds.)


Stage IIIB Testicular Cancer AJCC v6 and v7

Stage IIIB includes: (Any pT/TX, N1-3, M0, S2); (Any pT/TX, Any N, M1a, S2).  N1: Metastasis with a lymph node mass 2 cm or less in greatest dimension; or multiple lymph nodes, none more than 2cm in greatest dimension.  N2: Metastasis with a lymph node mass more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, any one mass greater than 2 cm but not more than 5 cm in greatest dimension.  N3: Metastasis with a lymph node mass more than 5 cm in greatest dimension. M0: No distant metastasis. M1a: Non-regional nodal or pulmonary metastasis. S2: LDH 1.5-10 x N (N indicates the upper limit of normal for the LDH assay) or hCG 5,000-50,000 or AFP 1,000-10,000.  (AJCC 6th and 7th eds.)


Stage IIA Testicular Cancer AJCC v6 and v7

Stage IIA includes: (Any pT/TX, N1, M0, S0); (Any pT/TX, N1, M0, S1).  pTX: Primary tumor cannot be assessed.  N1: Metastasis with a lymph node mass 2 cm or less in greatest dimension; or multiple lymph nodes, none more than 2cm in greatest dimension.  M0: No distant metastasis. S0: Marker study levels within normal limits. S1: LDH less than 1.5 x N (N indicates the upper limit of normal for the LDH assay) and hCG less than 5,000 and AFP less than 1,000. (AJCC 6th and 7th eds.)


Intratubular Seminoma

Intratubular germ cell neoplasia characterized by the complete filling of the seminiferous tubules by seminoma cells.


Stage IIIC Testicular Cancer AJCC v6 and v7

Stage IIIC includes: (Any pT/TX, N1-3, M0, S3); (Any pT/TX, Any N, M1a, S3); (Any pT/TX, Any N, M1b, Any S).  N1: Metastasis with a lymph node mass 2 cm or less in greatest dimension; or multiple lymph nodes, none more than 2cm in greatest dimension.  N2: Metastasis with a lymph node mass more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, any one mass greater than 2 cm but not more than 5 cm in greatest dimension.  N3: Metastasis with a lymph node mass more than 5 cm in greatest dimension. M0: No distant metastasis. M1a: Non-regional nodal or pulmonary metastasis.  M1b: Distant metastasis other than to non-regional lymph nodes and lung.  S3: LDH more than 10 x N (N indicates the upper limit of normal for the LDH assay) or hCG more than 50,000 or AFP more than 10,000. (AJCC 6th and 7th eds.)


Testicular germ cell tumor mixed stage III

Stage III includes: Any pT/TX, Any N, M1, SX.  M1: Distant metastasis. SX: Marker studies not available or not performed.  (AJCC 6th and 7th eds.)


Stage II Testicular Seminoma AJCC v6 and v7


Stage IIC Testicular Cancer AJCC v6 and v7

Stage IIC includes: (Any pT/TX, N3, M0, S0); (Any pT/TX, N3, M0, S1).  pTX: Primary tumor cannot be assessed.  N3: Metastasis with a lymph node mass more than 5 cm in greatest dimension. M0: No distant metastasis. S0: Marker study levels within normal limits. S1: LDH less than 1.5 x N (N indicates the upper limit of normal for the LDH assay) and hCG less than 5,000 and AFP less than 1,000.  (AJCC 6th and 7th eds.)


Stage III Testicular Cancer AJCC v6 and v7


Stage III Testicular Seminoma AJCC v6 and v7


Stage 0 Testicular Cancer AJCC v6 and v7

Stage 0 includes: pTis, N0, M0, S0.  pTis: Intratubular germ cell neoplasia (carcinoma in situ).  N0: regional lymph node metastasis.  M0: No distant metastasis.  S0: Marker study levels within normal limits. (AJCC 6th and 7th eds.)


Stage I Testicular Cancer AJCC v6 and v7


Stage IS Testicular Cancer AJCC v6 and v7

Stage IS includes: Any pT/TX, N0, M0, S1-3.  pTX: Primary tumor cannot be assessed.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  S1: LDH less than 1.5 x N (N indicates the upper limit of normal for the LDH assay) and hCG less than 5,000 and AFP less than 1,000.  S2: LDH 1.5-10 x N or hCG 5,000-50,000 or AFP 1,000-10,000.  S3: LDH more than 10 x N or hCG more than 50,000 or AFP more than 10,000. (AJCC 6th and 7th eds.)


Testicular germ cell tumor mixed stage I


Stage II Testicular Cancer AJCC v6 and v7


Stage IIIA Testicular Cancer AJCC v6 and v7

Stage IIIA includes: (Any pT/TX, Any N, M1a, S0); (Any pT/TX, Any N, M1a, S1).  M1a: Non-regional nodal or pulmonary metastasis. S0: Marker study levels within normal limits. S1: LDH less than 1.5 x N (N indicates the upper limit of normal for the LDH assay) and hCG less than 5,000 and AFP less than 1,000.  (AJCC 6th and 7th eds.)


Stage II Testicular Non-Seminomatous Germ Cell Tumor AJCC v6 and v7


Testicular embryonal carcinoma stage III


Testicular germ cell tumor mixed stage II


Stage III Testicular Non-Seminomatous Germ Cell Tumor AJCC v6 and v7


fucosidosis

Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.


myosin XVI complex

A myosin complex containing a class XVI myosin heavy chains and associated light chains; myosin XVI heavy chains contain ankyrin repeat.


modulation by virus of host protein transport

Any viral process that modulates the frequency, rate or extent of protein transport in its host organism.


Bone Hibernoma

A benign neoplasm that is composed of brown adipocytes and arises within or on the surface of bone.


negative regulation of isoprene biosynthetic process

Any process that stops, prevents or reduces the frequency, rate or extent of isoprene biosynthetic process.


regulation of isoprene biosynthetic process

Any process that modulates the frequency, rate or extent of isoprene biosynthetic process.


positive regulation of isoprene biosynthetic process

Any process that activates or increases the frequency, rate or extent of isoprene biosynthetic process.


salicylic acid catabolic process

The chemical reactions and pathways resulting in the breakdown of salicylic acid (2-hydroxybenzoic acid), a derivative of benzoic acid.


Human Papillomavirus-Related Head and Neck Squamous Cell Carcinoma of Unknown Primary

A squamous cell carcinoma associated with human papilloma virus that has metastasized to the head and neck region from an unknown primary anatomic site.


superoxide-generating NADPH oxidase activity

Catalysis of the reaction: NADPH + 2 O2 = H+ + NADP+ + 2 superoxide.


NADH oxidase H202-forming activity

Catalysis of the reaction: NADH + H+ + O2 = NAD + hydrogen peroxide (H2O2).


NADPH oxidase H202-forming activity

Catalysis of the reaction: NADPH + H+ + O2 = NADP + hydrogen peroxide (H2O2).


superoxide-generating NADH oxidase activity

Catalysis of the reaction: NADH + 2 O2 = H+ + NAD+ + 2 superoxide.


Deep Tendon Reflex

Contraction of a muscle triggered by a signal from a muscle spindle in response to a stimulus applied to a specific trigger point on the body. The strength of the response can provide insight into central and peripheral nerve performance.


Catalysis of the reaction: 2 H+[side 1] + 2 oxidized plastocyanin + plastoquinol-1 = 2 H+[side 2] + 2 reduced plastocyanin + plastoquinone. This reaction involves the concomitant transfer of 2 H+ ions across a membrane.


Lymphadenopathy with Polyclonal Hypergammaglobulinemia

A finding indicating the presence of enlarged lymph nodes and associated polyclonal hypergammaglobulinemia.


Localized enlarged lymph nodes

Lymphadenopathy restricted to nearby lymph nodes that has not affected other distal nodes.


Dermatopathic lymphadenitis

Regional lymph node enlargement with a distinctive reactive process that is characterized by paracortical hyperplasia composed of interdigitating dendritic cells, Langerhans cells, macrophages containing melanin pigment, and small T-cells, due to chronic inflammatory skin disease.


Atypical Lymph Node

A lymph node that deviates from usual in terms of size, shape, and internal architecture.


Recurrent Childhood Osteosarcoma

The reemergence of childhood osteosarcoma after a period of remission.


congenital or early infantile CACH syndrome


leukoencephalopathy, progressive, with ovarian failure


Cree leukoencephalopathy

Any leukoencephalopathy with vanishing white matter in which the cause of the disease is a variation in the EIF2B1 gene.


regulation of cellular hyperosmotic salinity response

Any process that modulates the frequency, rate or extent of cellular hyperosmotic salinity response.


negative regulation of cellular hyperosmotic salinity response

Any process that stops, prevents or reduces the frequency, rate or extent of cellular hyperosmotic salinity response.


olfactory bulb interneuron fate commitment

The process in which the developmental fate of a neuroblast becomes restricted such that it will develop into an interneuron residing in the olfactory bulb.


transient congenital hypothyroidism

A common, self-limiting thyroid disorder seen in preterm infants that is characterized by abnormally low serum levels of thyroxine and free thyroxine with normal serum levels of thyroid stimulating hormone.


bone dysplasia, lethal Holmgren type

Bone dysplasia lethal Holmgren type (BDLH) is a lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. It was described in three siblings from healthy, non-consanguineous parents of Finnish and in four siblings from non-consanguineous parents of French origin with no family history of dwarfism. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description of BDLH in the literature since 1988.


saturated fatty acid

Any fatty acid containing no carbon to carbon multiple bonds. Known to produce adverse biological effects when ingested to excess.


branched-chain saturated fatty acid

Any saturated fatty acid with a carbon side-chain or isopropyl termination.


Recurrent Dedifferentiated Chordoma

The reemergence of dedifferentiated chordoma after a period of remission.


Recurrent Chordoma

The reemergence of chordoma after a period of remission.


Locally Recurrent Chordoma

The reemergence of chordoma after a period of remission, at or adjacent to the site of the original tumor.


Stage IV Primary Peritoneal Cancer AJCC v8

Stage IV includes: Any T, Any N, M1: M1: Distant metastasis, including pleural effusion with positive cytology; liver or splenic parenchymal metastasis; metastasis to extra-abdominal organs (including inguinal lymph nodes and lymph nodes outside the abdominal cavity); and transmural involvement of intestine. (from AJCC 8th Ed.)


Refractory Primary Peritoneal Endometrioid Adenocarcinoma

Primary peritoneal endometrioid adenocarcinoma that is resistant to treatment.


Refractory Primary Peritoneal Clear Cell Adenocarcinoma

Primary peritoneal clear cell adenocarcinoma that is resistant to treatment.


Recurrent Primary Peritoneal Clear Cell Adenocarcinoma

The reemergence of primary peritoneal clear cell adenocarcinoma after a period of remission.


Stage IIIB Primary Peritoneal Cancer AJCC v8

Stage IIIB includes: T3b, N0/N1, M0. T3b: Primary peritoneal cancer with macroscopic peritoneal metastasis beyond pelvis 2 cm or less in greatest dimension with or without metastasis to the retroperitoneal lymph nodes. N0: No regional lymph node metastasis. N1: Positive retroperitoneal lymph nodes only (histologically confirmed). M0: No distant metastasis. (AJCC 8th Ed.)


Advanced Primary Peritoneal Carcinoma

Primary peritoneal carcinoma that has spread extensively from its original site of growth to other anatomic sites or is no longer responding to treatment.


Clear cell adenocarcinoma of peritoneum

An extremely rare adenocarcinoma arising from the peritoneum. It is composed of malignant glandular epithelium containing clear cells.


Refractory Primary Peritoneal Transitional Cell Carcinoma

Primary peritoneal transitional cell carcinoma that is resistant to treatment.