name: Clinical Stage I Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage I includes: T1, N0-1, M0. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Pathologic Stage IIIA Esophageal Squamous Cell Carcinoma AJCC v8

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

description: Stage IIIA includes: (T1, N2, M0, Any G, Tumor location: Any); (T2, N1, M0, Any G, Tumor location: Any). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Postneoadjuvant Therapy Stage II Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage II includes: T3, N0, M0. T3: Tumor invades adventitia. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Distal Esophagus Squamous Cell Carcinoma

description: A squamous cell carcinoma that arises from the distal esophagus.


name: Locally Advanced Esophageal Squamous Cell Carcinoma

description: Esophageal squamous cell carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


Esophageal Carcinoma Cuniculatum

description: An extremely rare, well-differentiated squamous cell carcinoma that arises from the esophagus. It is characterized by the presence of hyperkeratosis, acanthosis, dyskeratosis, keratin-filled cysts, koilocyte-like cells, intraepithelial neutrophils, and focal cytologic atypia.


name: Stage IA Esophageal Squamous Cell Carcinoma AJCC v7

description: Stage IA includes: T1, N0, M0, G1, GX, Tumor location: Any. T1: Tumor invades lamina propria, muscularis mucosae, or submucosa.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  G1: Well differentiated.  GX: Grade cannot be assessed-stage grouping as G1.  Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus.  (AJCC 7th ed.)


name: Stage IIIA Esophageal Squamous Cell Carcinoma AJCC v7

description: Stage IIIA includes: (T1-2, N2, M0, Any G, Tumor location: Any); (T3, N1, M0, Any G, Tumor location: Any); (T4a, N0, M0, Any G, Tumor location: Any). T1: Tumor invades lamina propria, muscularis mucosae, or submucosa.  T2: Tumor invades muscularis propria. T3: Tumor invades adventitia. T4a: Resectable tumor invading pleura, pericardium, or diaphragm. N0: No regional lymph node metastasis.  N1: Metastasis in 1-2 regional lymph nodes.  N2: Metastasis in 3-6 regional lymph nodes.  M0: No distant metastasis.  Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus.  (AJCC 7th ed.)


name: Pathologic Stage IIIB Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage IIIB includes: (T2, N2, M0, Any G, Tumor location: Any); (T3, N1-2, M0, Any G, Tumor location: Any); (T4a, N0-1, M0, Any G, Tumor location: Any). T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage 0 Esophageal Squamous Cell Carcinoma AJCC v7

description: Stage 0 includes: Tis (HGD), N0, M0, G1, GX, Tumor location: Any.  Tis: High-grade dysplasia.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  G1: Well differentiated.  GX: Grade cannot be assessed-stage grouping as G1.  Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus.  (AJCC 7th ed.)


name: Postneoadjuvant Therapy Stage IVA Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage IVA includes: (T4a, N1-2, M0); (T4a, NX, M0); (T4b, N0-2, M0); (Any T, N3, M0). T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. T4b: Tumor invades other adjacent structures, such as the aorta, vertebral body, or airway. NX: Regional lymph nodes cannot be assessed. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Clinical Stage IVA Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage IVA includes: (T4, N0-2, M0); (Any T, N3, M0). T4: Tumor invades adjacent structures. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Pathologic Stage IIB Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage IIB includes: (T3, N0, M0, G2-3, Tumor location: Upper/middle); (T3, N0, M0, GX, Tumor location: Any); (T3, N0, M0, Any G, Tumor location: Unknown); (T1, N1, M0, Any G, Tumor location: Any). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T3: Tumor invades adventitia. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. GX: Grade cannot be assessed. G2: Moderately differentiated. G3: Poorly differentiated, undifferentiated (AJCC 8th ed.)


name: Postneoadjuvant Therapy Stage IIIA Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage IIIA includes: T0-2, N1, M0. T0: No evidence of primary tumor. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage III Esophageal Squamous Cell Carcinoma AJCC v7

description: Stage III includes: IIIA (T1-2, N2, M0, Any G, Tumor location: Any); (T3, N1, M0, Any G, Tumor location: Any); (T4a, N0, M0, Any G, Tumor location: Any); IIIB (T3, N2, M0, Any G, Tumor location: Any); IIIC (T4a, N1-2, M0, Any G, Tumor location: Any); (T4b, Any N, M0, Any G, Tumor location: Any); (Any T, N3, M0, Any G, Tumor location: Any).  T1: Tumor invades lamina propria, muscularis mucosae, or submucosa.  T2: Tumor invades muscularis propria. T3: Tumor invades adventitia. T4a: Resectable tumor invading pleura, pericardium, or diaphragm. T4b: Unresectable tumor invading other adjacent structures, such as aorta, vertebral body, trachea, etc. N0: No regional lymph node metastasis.  N1: Metastasis in 1-2 regional lymph nodes.  N2: Metastasis in 3-6 regional lymph nodes.  N3: Metastasis in seven or more regional lymph nodes.  M0: No distant metastasis.  Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus.  (AJCC 7th ed.)


name: Pathologic Stage III Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage III includes: IIIA: (T1, N2, M0, Any G, Tumor location: Any); (T2, N1, M0, Any G, Tumor location: Any); IIIB: (T2, N2, M0, Any G, Tumor location: Any); (T3, N1-2, M0, Any G, Tumor location: Any); (T4a, N0-1, M0, Any G, Tumor location: Any). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Esophageal Squamous Cell Carcinoma by AJCC v8 Stage

description: A term that refers to the staging of esophageal squamous cell carcinoma according to the American Joint Committee on Cancer, 8th edition.


name: Pathologic Stage II Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage II includes: IIA: (T2, N0, M0, G2-3, Tumor location: Any); (T2, N0, M0, GX, Tumor location: Any); (T3, N0, M0, Any G, Tumor location: Lower); (T3, N0, M0, G1, Tumor location: Upper/middle); IIB: (T3, N0, M0, G2-3, Tumor location: Upper/middle); (T3, N0, M0, GX, Tumor location: Any); (T3, N0, M0, Any G, Tumor location: Unknown); (T1, N1, M0, Any G, Tumor location: Any). T2: Tumor invades the muscularis propria. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T3: Tumor invades adventitia. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. GX: Grade cannot be assessed. G1: Well-differentiated. G2: Moderately differentiated. G3: Poorly differentiated, undifferentiated. (AJCC 8th ed.)


name: Esophageal Squamous Cell Carcinoma by AJCC v8 Clinical Stage

description: A term that refers to the clinical staging of esophageal squamous cell carcinoma according to the American Joint Committee on Cancer, 8th edition.


name: Postneoadjuvant Therapy Stage IV Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage IV includes: IVA: (T4a, N1-2, M0); (T4a, NX, M0); (T4b, N0-2, M0); (Any T, N3, M0); IVB: (Any T, Any N, M1). T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. T4b: Tumor invades other adjacent structures, such as the aorta, vertebral body, or airway. NX: Regional lymph nodes cannot be assessed. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)


Esophageal Spindle Cell Carcinoma

description: An esophageal squamous cell carcinoma characterized by the presence of a spindle-cell carcinomatous component.  Crossly it has a polypoid appearance and usually arises from the middle or lower third of the esophagus.


name: Esophageal Moderately Differentiated Squamous Cell Carcinoma

description: An esophageal squamous cell carcinoma characterized by the presence of variable morphologic characteristics that include areas of prominent and poor keratinization.


name: Pathologic Stage I Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage I includes: IA: (T1a, N0, M0, G1, Tumor location: Any); (T1a, N0, M0, GX, Tumor location: Any); IB: (T1a, N0, M0, G2-3, Tumor location: Any); (T1b, N0, M0, G1-3, Tumor location: Any); (T1b, N0, M0, GX, Tumor location: Any); (T2, N0, M0, G1, Tumor location: Any). T1a: Tumor invades the lamina propria or muscularis mucosae. T1b: Tumor invades the submucosa. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well-differentiated. GX: Grade cannot be assessed. G2: Moderately differentiated. G3: Poorly differentiated, undifferentiated. (AJCC 8th ed.)


name: idiopathic hypersomnia with long sleep time

description: Idiopathic hypersomnia with long sleep time is a sleep disorder characterized by good quality night rest of 10 hours or more, excessive daytime drowsiness that is more or less continual with long episodes of non-restorative sleep, and difficult waking with sleep drunkenness or sleep inertia.


Senior-Loken syndrome 5

description: Any Senior-Loken syndrome in which the cause of the disease is a mutation in the IQCB1 gene.


valerate ester

A carboxylic ester obtained by formal condensation of the carboxy group of valeric (pentanoic) acid with the hydroxy group of any alcohol or phenol.


A sialodiosylceramide consisting of the tetrasaccharide alpha-Neu5NGc-(2->8)-alpha-Neu5NGc-(2->3)-beta-D-Gal-(1->4)-beta-D-Glc attached to the primary hydroxy function of ceramide.


name: Stage IA Gastric and Omental Gastrointestinal Stromal Tumor AJCC v8

description: Stage IA includes: T1 or T2, N0, M0, Low Mitotic Rate. T1: Tumor measuring 2 cm or less. T2: Tumor measuring more than 2 cm but not more than 5 cm. N0: No regional lymph node metastasis or unknown lymph node status. M0: No distant metastasis. Low Mitotic Rate: Five or fewer mitoses per 5 square millimeters, or per 50 HPF. (AJCC 8th ed.)


fallopian tube teratoma

description: A teratoma that arises from the fallopian tube. It is a rare tumor, often found incidentally.


fallopian tube germ cell tumor

description: A rare germ cell tumor that affects the fallopian tube. The vast majority of cases are teratomas.


fallopian tube benign neoplasm

description: A non-metastasizing neoplasm that arises from the fallopian tube. Representative examples include papilloma, adenofibroma, and leiomyoma.


fallopian tube leiomyoma

description: A benign smooth muscle neoplasm arising from the fallopian tube. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.


cancer of isthmus of fallopian tube

description: A cancer that involves the UBERON:0016632.


fallopian tube leiomyosarcoma

description: An aggressive malignant smooth muscle neoplasm, arising from the fallopian tube. It is characterized by a proliferation of neoplastic spindle cells.


fallopian tube adenosarcoma

description: An extremely rare malignant neoplasm that arises from the fallopian tube and is characterized by the presence of a benign epithelial component and a sarcomatous component.


fallopian tube endometrioid tumor

description: A benign, borderline, or malignant epithelial tumor of the fallopian tube that is characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells.


Hurting Pain

category: biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing

description: A sensation of discomfort or distress that is very unpleasant.


demodicidosis of sebaceous gland

description: A demodicidosis that involves the sebaceous gland.


QUINMERAC

A quinolinemonocarboxylic acid that is quinoline-8-carboxylic acid carrying additional methyl and chloro substituents at positions 3 and 7 respectively. A residual herbicide used to control broad-leaved weeds on a range of crops including cereals, rape and beet.


silicon-32 atom

The radioactive isotope of silicon with relative atomic mass 31.974148. The longest-lived silicon radionuclide with half-life of 172 years.


silicon-28 atom

The stable isotope of silicon with relative atomic mass 27.9769265. The most abundant (92.23 atom percent) isotope of naturally occurring silicon.


silicon-29 atom

The stable isotope of silicon with relative atomic mass 28.9764947, 4.683 atom percent natural abundancy, and nuclear spin (1)/2.


silicon-30 atom

The stable isotope of silicon with relative atomic mass 29.9737702. The least abundant (3.09 atom percent) isotope of naturally occurring silicon.


Mold or Dust Allergy

description: An allergic reaction triggered by exposure to airborne allergens expressed by dust mites or molds.


hypersensitivity reaction disease

description: An immune system disease that has basis in dysregulation of the hypersensitivity reaction, an inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system.


Cat allergy (disorder)

description: An allergic reaction triggered by exposure to allergens expressed by cats, includes allergenic factors found in feline saliva and dander.


Processed Food Allergy

description: An allergic reaction triggered by exposure to allergens found in processed foods.


Shellfish allergy

description: An allergic reaction triggered by exposure to allergens found in foods containing molluscs, crustaceans or echinoderms.


Dog Allergy

description: An allergic reaction triggered by exposure to allergens expressed by dogs, includes allergenic factors found in canine saliva and dander.


Venomous Ant Bite Allergy

description: An allergic reaction triggered by exposure to ant venom, usually as a result of being bitten by a fire ant (Solenopsis spp.).


Allergy to fruit

description: An allergic reaction triggered by exposure to foodborne allergens found in fruit.


food allergy

description: Gastrointestinal disturbances, skin eruptions, or shock due to allergic reactions to allergens in food.


Allergy to bee venom

description: An allergic reaction triggered by being exposed to bee venom following a bee sting.


Wasp Sting Allergy

description: An allergic reaction triggered by being exposed to wasp venom following a wasp sting.


Dairy or Lactose Intolerance Allergy

description: An allergic reaction triggered by exposure to allergens found in foods containing lactose or other dairy components.


Blast Phase Myeloproliferative Neoplasm

description: Transformation of a myeloproliferative neoplasm into acute myeloid leukemia, typically via accelerated phase myeloproliferative neoplasm. Myeloblasts account for 20% or more of the peripheral blood white cells or the nucleated cells in the bone marrow.


Blast Phase Primary Myelofibrosis

description: Transformation of primary myelofibrosis into acute myeloid leukemia, typically via accelerated phase primary myelofibrosis. Myeloblasts account for 20% or more of the peripheral blood white cells or the nucleated cells in the bone marrow.


gonococcal synovitis

description: An synovitis (disease) caused by infection with Neisseria gonorrhoeae.


gonococcal infection of joint

description: Arthritis caused by bacterial infection with Neisseria gonorrhoeae.


AGIGENIN

An oxaspiro compound that is (25R)-5alpha-spirostan substituted by hydroxy groups at positions 2, 3 and 6 (the 2alpha,3beta,6beta stereoisomer).


name: Stage IB Uterine Corpus Endometrial Stromal Sarcoma AJCC v8

description: Stage IB includes: T1b, N0, M0. T1b: Uterine corpus endometrial stroma sarcoma with tumor limited to the uterus, measuring more than 5 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


BUTOPAMINE

A 4-(1-hydroxy-2-{[4-(4-hydroxyphenyl)butan-2-yl]amino}ethyl)phenol in which both stereocentres have R configuration. It is the most active of the four diastereoisomers that make up the animal feed additive ractopamine.


imazapic

A racemate comprising equimolar amounts of (R)- and (S)-imazapic. It is a selective imidazolinone herbicide for pre- and post-emergent control of some annual and perennial grasses and broadleaf weeds. It kills plants by inhibiting the activity of the enzyme acetohydroxy acid synthase (AHAS).


A glycopentaosylceramide having alpha-D-Gal-(1->4)-beta-D-Gal-(1->4)-beta-D-GlcNAc-(1->3)-beta-D-Gal-(1->4)-beta-D-Glc as the pentasaccharide component.


name: granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3


alpha-mannosidosis

description: Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit.


beta-mannosidosis

description: Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.


oleoyl-lysophosphatidylcholine

An oleoyl-sn-glycero-3-phosphocholine in which the acyl group at position 1 is (9Z)-octadecenoyl (oleoyl) and the hydroxy group at position 2 is unsubstituted.


A lysophosphatidylcholine 18:1 in which the acyl group is specified as oleoyl and is located at either position 1 or 2.


A lysophosphatidylcholine 18:1 in which the acyl group is specified as oleoyl and is located at position 2.


petiolaroside

A  quercetin O-glucoside that is  quercetin attached to beta-D-glucopyranosyl residue at position 3 and a alpha-L-rhamnopyranosyl residue at position 7 via glycosidic linkages. Isolated from the aerial parts of Delphinium staphisagria, it exhibits trypanocidal activity.


name: anemia, nonspherocytic hemolytic, due to G6PD deficiency

description: Any nonspherocytic hemolytic anemia in which the cause of the disease is a variation in the G6PD gene resulting in severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Individuals with hemizygous G6PD variants associated with chronic nonspherocytic hemolytic anemia (CNSHA) have CNSHA. Individuals with G6PD variants that cause CNSHA are at risk for acute hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans.


name: anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane


name: anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism


3-methylbut-2-enoic acid

A methyl-branched fatty acid that is but-2-enoic acid bearing a methyl substituent at position 3.


amino sulfonic acid

An organosulfonic acid containing one or more amino groups.


sulfamazone

A racemate comprising equimolar amounts of (R)- and (S)-sulfamazone. An antibacterial agent that antipyretic activity, it has been used (generally as its sodium salt) for the treatment of infections of the upper respiratory tract.


A glycosylphosphatidylinositolethanolamine in which the nitrogen is substituted by a cysteinyl group.


A glycosylphosphatidylinositolethanolamine in which the nitrogen is substituted by an asparaginyl group.


A glycosylphosphatidylinositolethanolamine in which the nitrogen is substituted by an aspartyl group.


A glycosylphosphatidylinositolethanolamine in which the nitrogen is substituted by a seryl group.


A glycosylphosphatidylinositolethanolamine in which the nitrogen is substituted by a glycyl group.


A glycosylphosphatidylinositolethanolamine in which the nitrogen is substituted by an alanyl group.


A glycosylphosphatidylinositolethanolamine in which the nitrogen is substituted by a threonyl group.


TRICHLOROETHANE

A member of the class of chloroethanes that is ethane substituted by chloro groups at positions 1, 1 and 2.


trisomy 8q

description: Trisomy 8q is a very rare disorder characterized by duplication of the long arm of chromosome 8. The most commonly associated abnormalities include low birth weight, craniofacial abnormalities (prominent forehead, flat occiput, hypertelorism, upslanting palpebral fissures, ear and nose deformities, thin upper lips), congenital heart defects, skeletal defects, psychomotor retardation. Phenotypic features vary in relation to the duplication size.


chromosome 8 disorder

description: Chromosomal disorder in which chromosome 8 is affected.


name: partial duplication of the short arm of chromosome 8

description: Chromosome 8p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 8p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.


chromosome 8, trisomy

description: A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells.


name: chromosome 8Q12.1-q21.2 deletion syndrome


monosomy chromosome 8

description: A chromosomal disorder consisting of the absence of one chromosome 8.


8q22.1 microdeletion syndrome

description: The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance.


8p23.1 duplication syndrome

description: 8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly).


name: partial deletion of the long arm of chromosome 8

description: Chromosome 8q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 8q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.


8p23.1 microdeletion syndrome

description: 8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.


distal trisomy 8q

description: Distal trisomy 8q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8, with a highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects and skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss, and seizures).


name: partial deletion of the short arm of chromosome 8

description: Chromosome 8p deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the short arm (p) of chromosome 8 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Most cases are not inherited, although affected people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.


name: partial duplication of the long arm of chromosome 8


mesomelia-synostoses syndrome

description: A syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies.


mosaic trisomy 8

description: Mosaic trisomy 8 is a chromosomal disorder defined by the presence of three copies of chromosome 8 in some cells of the organism. It is characterized by facial dysmorphism, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies.


chromosome 8q21.11 deletion syndrome

description: Heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies.


8p11.2 deletion syndrome

description: 8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.


8q12 microduplication syndrome

description: The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly.


name: 8p inverted duplication/deletion syndrome

description: 8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum.


trisomy 8p

description: Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported.


CIC-rearranged sarcoma

description: An EWSERI-negative small round cell tumor that is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and either DUX4 gene on chromosome 4 or DUX4L gene on chromosome 10. The translocation results in either CIC-DUX4, t(4;19)(q35;q13) or CIC-DUX4L, t(10;19)(q26;q13) fusions.


Childhood CIC-Rearranged Sarcoma

description: A CIC-rearranged sarcoma that occurs during childhood.


name: Central Nervous System CIC-Rearranged Sarcoma

description: A rare, undifferentiated, high grade small round cell sarcoma that arises from the central nervous system. It is characterized by a recurrent translocation involving the CIC gene on chromosome 19 resulting in CIC gene fusion with different gene partners.


CIC-DUX4L Sarcoma

description: An undifferentiated, high grade small round cell sarcoma affecting predominantly young adults. It is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and DUX4L gene on chromosome 10. The translocation results in CIC-DUX4L, t(10;19)(q26;q13) fusions.


disease

description: A disease is a disposition to undergo pathological processes that exists in an organism because of one or more disorders in that organism.


name: sporadic adult-onset ataxia of unknown etiology

description: Sporadic adult-onset ataxia of unknown etiology describes a group of non-hereditary degenerative ataxias characterized by a slowly progressive cerebellar syndrome (with ataxia of stance and gait, upper limb dysmetria and intention tremor, ataxic speech, and oculomotor abnormalities), presenting in adulthood (at around 50 years of age), that is not due to a known cause. Extracerebellar symptoms (e.g., decreased vibration sense and absent or decreased ankle reflexes), polyneuropathy and mild autonomic dysfunction may also be present. Mild cognitive impairment has also rarely been reported.


name: hypogonadotropic hypogonadism 13 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1 gene.


name: craniosynostosis arthrogryposis cleft palate


osteoarthritis, pig

description: Osteoarthritis that occurs in pig.


baclofen withdrawal syndrome

description: Withdrawal syndrome involving the abrupt discontinuation of baclofen therapy (intrathecal or oral). Baclofen withdrawal syndrome can result in high fever, altered mental status (including agitation, insomnia, confusion, delusions, hallucinations, seizures, visual changes, or psychosis), and potentially profound muscular rigidity that sometimes progresses to fatal rhabdomyolysis.


name: hereditary thrombocytopenia and hematologic cancer predisposition syndrome

description: The disorder is characterized by thrombocytopenia of varying severity and a predisposition to hematologic malignancies. It may be caused due to germ line variations in the RUNX1, ETV6 or ANKRD26 genes.


retinal detachment, horse

description: Retinal detachment that occurs in horse.


benign melanocytic skin nevus

description: A benign, circumscribed proliferation of melanocytes in the skin. Variants include the Spitz nevus, halo nevus, blue nevus, and balloon cell nevus.


name: NTHL1-deficiency tumor predisposition syndrome

description: Biallelic constitutional/germline loss-of-function NTHL1 variants confer predisposition to tumor formation demonstrating ‘COSMIC Signature 30’ mutation profile. Tumors have been reported at multiple primary sites; in particular adenomatous polyposis of colon (~10-50 polyps), colorectal cancer, and breast cancer.


name: breast cancer, familial, susceptibility to, 1


abducens nerve palsy

description: Paralysis of the abducens nerve.


brittle cornea syndrome 2

description: Any brittle cornea syndrome in which the cause of the disease is a mutation in the PRDM5 gene.


Guillain-Barre syndrome, familial

description: A form of Guillain-Barre syndrome (GBS) that occurs in persons or families with a genetic predisposition to the acute or chronic forms of GBS. Note that GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors, and families with clear Mendelian inheritance have been rarely reported: a mutation in the PMP22 gene (601097) on chromosome 17 was identified in a single family with the acute (AIDP) and chronic (CIDP) forms of inflammatory demyelinating polyneuropathy.


name: neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy


associative visual agnosia

description: An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the ability to describe them.


name: polydactyly of an index finger, unilateral


name: congenital generalized lipodystrophy type 1

description: Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the AGPAT2 gene.


Krabbe disease, non-human animal

description: Krabbe disease that occurs in non-human animals.


pedophilia

description: A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving sexual activity with a prepubescent child or children.


renal dysplasia, cattle

description: Renal dysplasia that occurs in cattle.


urolithiasis, non-human animal

description: Urolithiasis that occurs in non-human animals.


inflammatory disease

description: A disease involving a pathogenic inflammatory response in the anatomical structure.


name: intellectual disability, autosomal recessive 29


necrotizing sialometaplasia

description: A benign, inflammatory, variably ulcerated, occasionally bilateral, self-healing lesion of the minor salivary glands that is often confused clinically and histologically with carcinoma.


dendritic cell sarcoma

description: A sarcoma that involves the dendritic cell.


simple cryoglobulinemia

description: Simple (monoclonal) cryoglobulinemia or type I cryoglobulinemia refers to the presence in the serum of one isotype or subclass of immunoglobulin (Ig) that precipitates reversibly below 37°C.


cyanide-induced parkinsonism

description: Cyanide-induced parkinsonism is a rare parkinsonian syndrome due to intoxication which develops in individuals surviving an acute cyanide intoxication episode or due to chronic exposure to small cyanide doses. It presents several weeks after acute exposure with progressive typical clinical features of parkinsonism including bradykinesia, rigidity, dystonia, hypomimia, hypokinetic dysarthria, postural instability and retropulsion but no resting or postural tremor. Brain MRI reveals bilateral lesions in the pallidum, posterior putamen, substantia nigra, subthalamic nucleus, temporal and occipital cortex, and cerebellum.


name: autosomal recessive non-syndromic intellectual disability

description: Autosomal recessive form of non-syndromic intellectual disability.


name: mirror movements 1 and/or agenesis of the corpus callosum

description: A familial congenital mirror movement disorder where individuals with heterozygous variants in DCC have congenital mirror movements and/or agenesis of the corpus callosum (not with or without- some individuals do not demonstrate mirror movements and only have corpus callosum defects, even within the same family).


Flaviviridae infectious disease

description: Infections with viruses of the family flaviviridae.


name: endometrioid stromal and related neoplasms

description: A category of mesenchymal gynecologic neoplasms. It includes endometrial stromal nodule, endometrioid stromal sarcoma, and undifferentiated sarcoma. Endometrial stromal nodule has been described in the uterine corpus only. Histologically, it is characterized by the lack of infiltration of the surrounding tissues. Endometrioid stromal sarcoma affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma. Undifferentiated sarcoma was previously also known as high grade endometrial stromal sarcoma. In 2014, high grade endometrial stromal sarcoma was reclassified and is currently considered a distinct and rare neoplasm that affects the uterine corpus only. It appears to have a prognosis that falls between low grade endometrial stromal sarcoma and undifferentiated sarcoma. The latter affects the uterine corpus and rarely the remainder of the anatomic sites.


name: short stature with microcephaly and distinctive facies


Al Gazali Khidr Prem Chandran syndrome

description: A disease characterized by cherubism (disorder characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths.), visual impairment due to optic atrophy and short stature. This is an n-of-1 use case where only one patient or family has been described with this disorder.


name: cleft lip with or without cleft palate, dog

description: Cleft lip with or without cleft palate that occurs in dog.


oculomotor nerve neoplasm

description: A neoplasm involving a oculomotor nerve.


name: recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome

description: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy.


seminal vesicle tumor

description: A benign or malignant neoplasm that affects the seminal vesicle. Representative examples include cystadenoma and adenocarcinoma.


precocious puberty, central, 2

description: Any central precocious puberty in which the cause of the disease is a mutation in the MKRN3 gene.


retinal degeneration, non-human animal

description: Retinal degeneration that occurs in non-human animals.


infiltrating angiolipoma

description: An uncommon lipoma characterized by prominent vascularity that invades the surrounding deep tissue.


name: radiation sensitivity/chromosome instability syndrome, autosomal dominant


hemi-myeloschisis

description: A very rare form of composite dysraphism characterized by the presence of a split cord malformation and a myeloschisis on one of the two hemicords. Hemicords can be in a single dural sac or in two separated dural sacs. Other spinal cord malformations can be associated. Due to the comparable prognosis it is considered as a subtype of myeloschisis.


name: autosomal recessive congenital ichthyosis 4A

description: Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ABCA12 gene.


late latent syphilis

description: Latent syphilis when infection was acquired more than twelve months previously.


NAA10-related syndrome

description: Ab X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the NAA10 gene. Patients with variants in the NAA10 gene demonstrate symptoms such as developmental delay, intellectual disability, autism spectrum disorder, hypotonia, facial dysmorphism, cardiac anomalies, and/or skeletal anomalies.


bullous lichen planus

description: Bullous lichen planus is a variant of rare lichen planus characterized by the development of vesico-bullous lesions.


protoporphyria, cattle

description: Protoporphyria that occurs in cattle.


name: intellectual disability, autosomal recessive 58

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ELP2 gene.


IFT140-related recessive ciliopathy

description: Any ciliopathy in which the cause of the disease is biallelic variants in the IFT140 gene.


hyperlipoproteinemia, type 1D

description: Any familial hyperlipidemia in which the cause of the disease is a mutation in the GPIHBP1 gene.


name: pelvic dysplasia-arthrogryposis of lower limbs syndrome


UROD-related inherited porphyria

description: Any inherited porphyria in which the cause of the disease is monoallelic or biallelic variants in the UROD gene.


endocrine tuberculosis

description: Infection of the endocrine glands with species of mycobacterium, most often mycobacterium tuberculosis.


uterine corpus carcinofibroma

description: An uncommon malignant neoplasm arising from the uterine corpus. It is characterized by the presence of a malignant epithelial component and a benign mesenchymal (usually fibrous) component.


name: non-recovering obstetric brachial plexus lesion


name: complete atrioventricular canal-tetralogy of fallot syndrome


orbital dermoid cyst

description: A benign congenital tumor that affects the orbit. It is one of the most common orbital tumors. It is characterized by the presence of a cystic structure that is lined by keratinizing epithelium and contains adnexal structures. Complete surgical excision is curative.


name: spastic paraplegia 80, autosomal dominant


name: PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome


disorder of gluconeogenesis

description: An inherited metabolic disease that is has its basis in the disruption of gluconeogenesis.


vascular parkinsonism

description: A Parkinsonism that is characterized by postural instability, a broad-based gait with the absence of tremors of vascular origin.


focal segmental glomerulosclerosis 9

description: Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CRB2 gene.


name: congenital anomalies of kidney and urinary tract 3


name: intellectual developmental disorder, autosomal dominant 72

description: An autosomal dominant intellectual disability disorder characterized by developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight/obesity, and dysmorphic features.


hypoglossal nerve disorder

description: A disease involving the hypoglossal nerve.


eccrine acrospiroma

description: A rare cutaneous tumor of eccrine sweat gland origin. It is most commonly found on the extremities and is usually benign. There is no indication that heredity or external agents cause these tumors.


name: lymphoma, Hodgkin, Y-linked pseudoautosomal


Reynolds syndrome

description: An autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc).


monosomy 21

description: Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit.


name: congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies

description: Congenital hypothyroidism due to transplacental passage of maternal thyroid-stimulating hormone (TSH)-binding inhibitory antibodies is a type of transient congenital hypothyroidism, a thyroid hormone deficiency that is not permanent.


name: familial hyperinflammatory lymphoproliferative immunodeficiency


WT limb-blood syndrome

description: WT limb-blood syndrome is characterized by hematological anomalies (Fanconi anemia, leukemia and lymphoma) often appearing during childhood. Anomalies of the limbs and hands are also present: bifid or hypoplastic thumbs, cutaneous syndactyly, and ulnar and radial defects. The syndrome has been described in several families. Transmission is autosomal dominant.


fetal akinesia deformation sequence 1

description: Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the MUSK gene.


axial spondylometaphyseal dysplasia

description: Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones.Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine,upper arms and upper legs, and results in shortened stature.For reasons not well understood,this rare skeletal dysplasia is also associated withearly and progressivevision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown.It is thought to be inherited in an autosomal recessive fashion.


centrifugal lipodystrophy

description: Centrifugal lipodystrophy is a rare, acquired, localized lipodistrophy characterized by single or, occasionally, multiple, centrifugally progressive, asymptomatic to sometimes mildly tender, hypopigmented, lipoatrophic skin depressions with weakly erymatheous inflammatory borders, typically associated with regional ipsilateral lymph nodes swelling. Lesions typically occur on lower trunk (in particular groin and abdomen region), followed by upper trunk (axilla and neighboring regions) and, rarely, neck and head. It is usually not associated with systemic disease and is typically self-resolving.


isolated hemihyperplasia

description: Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma and hepoblastoma.


torsion dystonia 17

description: A dystonia characterized by autosomal recessive inheritance of progressive dystonia, dysphonia, dysarthria and neck torticollis that has material basis in variation in the chromosome region 20p11.2-q13.12.


familial bicuspid aortic valve

description: A rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).


immunodeficiency 76

description: An autosomal recessive primary immunologic disorder characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Laboratory studies show T-cell lymphopenia and may show variable B-cell or immunoglobulin abnormalities. More variable features found in some patients include lymphoma and neurologic features. Although bone marrow transplantation may be curative, many patients die in childhood.


name: autosomal recessive pseudohypoaldosteronism type 1

description: Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs.


name: congenital heart defects, multiple types, 3


cystic fibrosis, pig

description: Cystic fibrosis that occurs in pig.


seminal vesicle acute gonorrhea

description: Acute form of gonococcal seminal vesiculitis.


name: hereditary angioedema with normal C1inh not related to F12 or PLG variant


trench fever

description: An intermittent fever characterized by intervals of chills, fever, and splenomegaly each of which may last as long as 40 hours. It is caused by bartonella quintana and transmitted by the human louse.


name: ectodermal dysplasia neurosensory deafness


severe congenital nemaline myopathy

description: Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM) characterized by severe hypotonia with little spontaneous movement in neonates.


name: encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities


infectious disease, non-human animal

description: Infectious disease that occurs in non-human animals.


epidermitis, exudative, of swine

description: An acute generalized dermatitis of pigs which occurs from 5 to 35 days of age, characterized by sudden onset, with morbidity of 10 to 90% and mortality of 5 to 90%. The lesions are caused by Staphylococcus hyos but the bacterial agent is unable to penetrate the intact skin. Abrasions on the feet and legs or lacerations on the body frequently precede infection. In acute cases, a vesicular-type virus may be the predisposing factor. The causative organism is inhibited by most antibiotics. (Merck Veterinary Manual, 5th ed)


chromosome 13 disorder

description: Chromosomal disorder in which chromosome 13 is affected.


hyperekplexia, non-human animal

description: Hyperekplexia that occurs in non-human animals.


st. Louis encephalitis

description: A viral encephalitis caused by the St. Louis encephalitis virus (encephalitis virus, st. louis), a flavivirus. It is transmitted to humans and other vertebrates primarily by mosquitoes of the genus culex. The primary animal vectors are wild birds and the disorder is endemic to the midwestern and southeastern United States. Infections may be limited to an influenza-like illness or present as an aseptic meningitis or encephalitis. Clinical manifestations of the encephalitic presentation may include seizures, lethargy, myoclonus, focal neurologic signs, coma, and death. (From Adams et al., Principles of Neurology, 6th ed, p750)


adult onset pityriasis rubra pilaris

description: A pityriasis rubra pilaris that occurs around the fifth or sixth decade of life.


name: neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities


name: combined oxidative phosphorylation deficiency 28

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SLC25A26 gene.


name: metachromatic leukodystrophy, adult form


Nairobi sheep disease

description: An arbovirus infection of sheep and goats transmitted by ticks. It is characterized by high fever and hemorrhagic gastroenteritis.


name: peroxisome biogenesis disorder due to PEX11B defect

description: Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX11B gene.


name: mitochondrial complex 1 deficiency, nuclear type 36


cataract 32 multiple types

description: A cataract that has material basis in mutation in the region 14q22-q23.


syndromic disease, non-human animal

description: Syndromic disease that occurs in non-human animals.


testicular sex cord-stromal neoplasm

description: A benign or malignant tumor that arises from the testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the tumor or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, ten percent of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group.


name: neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features


primary ciliary dyskinesia 23

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ARMC4 gene.


name: skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome


Meier-Gorlin syndrome 5

description: Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC6 gene.


myoclonic epilepsy of Lafora 1

description: Any Lafora disease in which the cause of the disease is a variation in the EPM2A gene.


transient pseudohypoaldosteronism

description: Transient pseudohypoaldosteronism is a renal tubulopathy characterized by renal tubular resistance to aldosterone, characterized by hyponatremia, metabolic acidosis and hyperkalemia and manifesting as dehydration, secondary to urinary tract malformation and infections in infants.


name: neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies


name: immunodeficiency 115 with autoinflammation


description: Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1).


morphine dependence

description: Strong dependence, both physiological and emotional, upon morphine.


name: mitochondrial complex 1 deficiency, nuclear type 4


name: uterine corpus endometrial stromal sarcoma

description: A uterine corpus sarcoma originating from the endometrial stroma. It is further subdivided into low grade and high grade endometrial stromal sarcoma.


muscular dystrophy, Duchenne type, pig

description: Muscular dystrophy, Duchenne type that occurs in pig.


inflammatory leiomyosarcoma

description: A morphologic variant of leiomyosarcoma characterized by the presence of an inflammatory infiltrate admixed with malignant spindle cells.


name: autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity


spina bifida, snow leopard

description: Spina bifida that occurs in snow leopard.


name: ciliary dyskinesia, primary, 48, without situs inversus


retinitis pigmentosa 3

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPGR gene.


acrocephalopolysyndactyly

description: A common presentation of craniosynostosis and polysyndactyly.


name: microcephaly, seizures, and developmental delay


familial rhabdoid tumor

description: A neoplastic syndrome most often caused by mutations in the hSNF5/INI1 tumor suppressor gene. It is characterized by the development of an atypical teratoid/rhabdoid tumor in infancy and early childhood. This highly aggressive tumor develops in the central nervous system as an isolated lesion or in combination with extrarenal or renal rhabdoid tumor. Patients may also develop other central nervous system malignancies including medulloblastoma, supratentorial primitive neuroectodermal tumor, and choroid plexus carcinoma.


cataract 10 multiple types

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA1 gene.


atrial fibrillation, familial, 3

description: Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNQ1 gene.


name: B-lymphoblastic leukemia/lymphoma with IAMP21

description: A B-lymphoblastic leukemia/lymphoma that is characterized by amplification of a portion of chromosome 21.


name: autoimmune disorder of musculoskeletal system

description: A hypersensitivity reaction type II disease that involves the musculoskeletal system.


retinitis pigmentosa 46

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the IDH3B gene.


name: methemoglobinemia due to deficiency of methemoglobin reductase


name: basal ganglia calcification, idiopathic, 8, autosomal recessive


Lelis syndrome

description: Lelis syndrome is characterized by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans.


hereditary spastic paraplegia 53

description: A very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A.


hereditary sensory neuropathy X-linked

description: A hereditary sensory neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life.


name: autosomal recessive nonsyndromic hearing loss 88

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ELMOD3 gene.


GUCY2D-related dominant retinopathy

description: A retinopathy caused by a heterozygous gain of function or dominant-negative variant or in the GUCY2D gene.


alpha-mannosidosis, cattle

description: Alpha-mannosidosis that occurs in cattle.


hereditary spastic paraplegia 2

description: Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG.


triopia

description: A craniofacial malformation with prosencephalic duplication; the presence of three eyes.


mirror agnosia

description: An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field.


description: Macrocephaly-short stature-paraplegia syndrome is characterized by macrocephaly and midface hypoplasia, intellectual deficit, short stature, spastic paraplegia and severe central nervous system anomalies (hydrocephalus and Dandy-Walker malformation). It has been described in two unrelated adults.


Reoviridae infectious disease

description: Infections produced by reoviruses, general or unspecified.


methylcobalamin deficiency type cblG

description: Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine.


name: Hao-Fountain syndrome due to 16p13.2 microdeletion

description: A partial deletion of the short arm of chromosome 16 characterized by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioral profile includes impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors.


thoracic disk degenerative disorder

description: Any degenerative disorder affecting one or more vertebral disks of the thoracic spine.


duplication/inversion 15q11

description: Isodicentric chromosome 15 syndrome is a chromosome abnormality that affects many different parts of the body. As the name suggests, people with this condition have an extra chromosome (called an isodicentric chromosome 15) which is made of two pieces of chromosome 15 that are stuck together end-to-end. Although the severity of the condition and the associated features vary from person to person, common signs and symptoms include poor muscle tone in newborns; developmental delay; mild to severe intellectual disability; delayed or absent speech; behavioral abnormalities; and seizures. Most cases of isodicentric chromosome 15 syndrome occur sporadically in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person.


urethra leiomyoma

description: A benign smooth muscle neoplasm arising from the urethra. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.


granulomatous endometritis

description: Chronic inflammation of the endometrium characterized by the presence of epithelioid granulomas. Causes include tuberculosis, fungal infections, parasitic infections, and sarcoidosis.


Oguchi disease-2

description: Any Oguchi disease in which the cause of the disease is a mutation in the GRK1 gene.


cytophagic histiocytic panniculitis

description: Cytophagic histiocytic panniculitis (CHP) is a very rare form of panniculitis manifesting as recurrent multiple subcutaneous nodules (which may progressively become ecchymotic and ulcerated), and histologically characterized by lobular panniculitis with lymphocytic and histiocytic infiltration in the subcutaneous adipose tissue.


tetrasomy 5p

description: Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, venriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia).


aminoacylase 1 deficiency

description: Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms.


GUCY2D-related recessive retinopathy

description: A retinopathy caused by biallelic variants in the GUCY2D gene.


name: congenital pseudomyotonia, non-human animal

description: Congenital pseudomyotonia that occurs in non-human animals.


name: hypouricemia, familial renal, due to tubular hypersecretion


name: painful orbital and systemic neurofibromas-marfanoid habitus syndrome


acquired motor neuron disease

description: An instance of motor neuron disease that is acquired during the lifetime of the individual.


name: acromesomelic dysplasia, Campailla Martinelli type


name: autosomal dominant Charcot-Marie-Tooth disease type 2K

description: Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy.


name: coronary artery disease, autosomal dominant 2

description: Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene.


agenesis of the superior vena cava

description: Agenesis of the superior vena cava (SVC) is a rare congenital anomaly of the great veins characterized by unilateral or bilateral complete absence of the SVC. Unilateral agenesis is mainly asymptomatic (most of the time diagnosed incidentally) and patients usually have otherwise normal heart structure. Bilateral agenesis, however, is frequently associated with other congenital cardiac anomalies and/or conduction abnormalities (such as tetralogy of Fallot, atrial septal defect) and typically present symptoms of SVC syndrome.


chronic rheumatic pericarditis

description: Chronic form of rheumatic pericarditis.


nasal cavity inverting papilloma

description: A benign neoplasm that arises from the ciliated respiratory mucosa that lines the nasal cavity. It results from the invagination and proliferation of epithelial cells in the underlying stroma. Clinical manifestations include nasal obstruction, epistaxis, and anosmia. It has the tendency to recur and extend to adjacent structures. Inverted papillomas are occasionally associated with the development or presence of carcinomas, usually squamous cell carcinomas.


neuronal ceroid lipofuscinosis 8

description: Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN8 gene.


Charcot-Marie-Tooth disease type 4F

description: Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones.


Bartter disease type 4B

description: A Bartter disease that has material basis in simultaneous mutation in both the CLCNKA and CLCNKB genes.


name: Pelizaeus-Merzbacher disease, transitional form

description: The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD.


cryohydrocytosis

description: A rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade.


name: hypogonadotropic hypogonadism 11 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TACR3 gene.


description: Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the RNF113A gene.


Lowry-Wood syndrome

description: Lowry-Wood syndrome is characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive.


ATF6-related retinopathy

description: A retinopathy caused by biallelic variants in the AFT6 gene.


leukodystrophy, non-human animal

description: Leukodystrophy that occurs in non-human animals.


name: familial reactive perforating collagenosis

description: Familial reactive perforating collagenosis is a very rare genetic skin disease characterized by transepidermal elimination of collagen fibers presenting as recurrent spontaneously involuting keratotic papules or nodules.


Leber congenital amaurosis 6

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPGRIP1 gene.


eosinophilic pustular folliculitis

description: Eosinophilic pustular folliculitis (EPF) is a skin disorder characterized by recurring itchy, red or skin-colored bumps and pustules (bumps containing pus). The condition is named after the fact that skin biopsies of this disorder find eosinophils (a type of immune cell) around hair follicles. The papules mostly appear on the face, scalp, neck and trunk and may persist for weeks or months. EPF affects males more than females.There are several variants of EPF includingclassic eosinophilic pustular folliculitis (mainly occurring in adults in Japan); HIV-associated EPF, also referred to as immunosuppression-associated EPF; and infantile EPF (with onset from birth or within the first year of life). Whether these are distinct disorders rather than variants of one disorder is controversial, partly because the underlying cause of EFP is not known.Several treatments have been described with variable results, including various oral or topical medications and phototherapy. In patients with HIV-associated disease, antiretroviral therapy tends to greatly diminish symptoms or even eliminate the condition.


name: fibrosis of extraocular muscles, congenital, 2

description: Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the PHOX2A gene.


oligocone trichromacy

description: Oligocone trichromacy is a rare non-progressive form of cone photoreceptor dysfunction characterized by reduced visual acuity, normal retinal appearance, absent or reduced cone responses on electroretinography but normal color vision.


rotator cuff syndrome

description: Tear of one or more of the tendons of the four rotator cuff muscles of the shoulder. A rotator cuff 'injury' can include any type of irritation or overuse of those muscles or tendons, and is among the most common conditions affecting the shoulder.


description: Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterized by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked.


ulerythema ophryogenesis

description: Ulerythema ophryogenesis is characterized by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection.


name: autosomal recessive ataxia due to PEX2 deficiency


name: developmental anomaly of metabolic origin


Loeys-Dietz syndrome 4

description: Any Loeys-Dietz syndrome in which the cause of the disease is a mutation in the TGFB2 gene.


Terrien marginal degeneration

description: A distinct marginal thinning of the cornea which causes high degree of against-the-rule astigmatism


description: A congenital disorder of glycosylation with a SSR3 deficiency that affects the brain, lungs and gastrointestinal system, and presents with clinical phenotypes such as seizures, intellectual disability, developmental delay, microcephaly and abnormal brain structure.


name: sickle cell-hemoglobin E disease syndrome

description: A rare, genetic hemoglobinopathy usually characterized by mild microcytic hemolysis and, very rarely, vaso-occlusive complications. Severe manifestations have been reported, including hematuria, splenic infarction, acute chest syndrome, acute episodes of pain and reversible bone marrow necrosis. The genotype is characterized by an HbS allele in combination with an HbE variant (beta26glu>lys); symptoms are due to the low allelic expression of HbE leading to HbS predominance (65+/-5%).


name: pregnancy disorder with abortive outcome

description: The unintentional or intentional loss of a pregnancy before 22 weeks gestation.


hypotrichosis 9

description: A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 10q11.23-q22.3.


isolated agammaglobulinemia

description: Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy.


ring chromosome 7

description: Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis).


aluminosis

description: Aluminosis is characterized as diffuse interstitial fibrosis which is mainly located in the upper and middle lobes of the lung. In advanced stages it is characterized by subpleural bullous emphysema with an increased risk of spontaneous pneumothorax.


name: frontonasal dysplasia with alopecia and genital anomaly

description: Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.


rectal duplication

description: Rectal duplication is a rare congenital anorectal malformation characterized by an egg-like, cystic, mucus-filled mass, composed of intestinal mucosal lining and smooth muscle tissue. Commonly they present in childhood with symptoms of recurrent urinary tract infections, gastroenteritis, obstruction, perianal sepsis and rectal bleeding. Drainage of mucus or pus from the anus is also a typical presenting sign. The majority are found in the retro-rectal space where they communicate with, or are contiguous to, the rectum.


name: microgastria-limb reduction defect syndrome

description: This syndrome is characterized by the association of microgastria with a limb reduction defect.


Hepadnaviridae infectious disease

description: Virus diseases caused by the hepadnaviridae.


premature ovarian failure 11

description: Any primary ovarian failure in which the cause of the disease is a mutation in the ERCC6 gene.


name: hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome

description: This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.


Ascaridida infectious disease

description: Infections with nematodes of the order ascaridida.


hyperekplexia 4

description: Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by {2:Piard et al., 2018}).nnFor a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 (OMIM:149400).


name: congenital infiltrating lipomatosis of the face


1q44 microdeletion syndrome

description: 1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.


name: congenital muscular dystrophy caused by variation in POMGNT2

description: Any congenital muscular dystrophy in which the cause of the disease is a variation in the POMGNT2 gene.


inherited auditory system disease

description: An instance of auditory system disease that is caused by an inherited modification of the individual's genome.


axillary lymphadenitis

description: An infection of the lymph nodes in the axilla.


name: autosomal recessive nonsyndromic hearing loss 24

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RDX gene.


primary ciliary dyskinesia 1

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI1 gene.


name: B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)

description: A precursor lymphoid neoplasm which is composed of B-lymphoblasts and carries a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein. It has a favorable clinical outcome.


name: qualitative or quantitative defects of titin


name: Yersinia pseudotuberculosis infectious disease

description: Infections with bacteria of the species yersinia pseudotuberculosis.


acute myeloid leukemia, t(11;17)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(11;17). (A cytogenetic abnormality that involves a translocation between chromosomes 11 and 17.)


benign neoplasm of corpus uteri

description: A benign neoplasm that involves the body of uterus.


de Barsy syndrome

description: A rare autosomal recessive genetic disorder characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.


name: non-acquired pituitary hormone deficiency


toxascariasis

description: Infections with nematodes of the genus toxascaris.


moderate hypophosphatasia

description: Moderate hypophosphatasia is a rare, moderate form of hypophosphatasia characterized by defective mineralization of bone and/or teeth, premature loss of teeth with intact roots, and reduced serum alkaline phosphatase (ALP) activity. Individuals can present with this form of hypophosphatasia in infancy, childhood, or adulthood.


spinocerebellar ataxia 47

description: A rare hereditary ataxia characterized by adult onset of slowly progressive cerebellar degeneration with gait ataxia, dysmetria, dysarthria, and in some cases diplopia. Cognitive functions are normal, and seizures are absent. Magnetic resonance imaging reveals mild atrophy of the cerebellar vermis.


spina bifida, sheep

description: Spina bifida that occurs in sheep.


kyphoscoliotic heart disease

description: Evidence of kyphoscoliotic heart disease.


corneal dystrophy, Fuchs endothelial, 3

description: Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the TCF4 gene.


mixed cryoglobulinemia type III

description: Type III mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins containing both polyclonal IgGs and polyclonal IgMs.


renal agenesis, dog

description: Renal agenesis that occurs in dog.


Usher syndrome type 1G

description: Any Usher syndrome in which the cause of the disease is a mutation in the USH1G gene.


name: male infertility with teratozoospermia due to single gene mutation

description: Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail.


name: corpus callosum dysgenesis hypopituitarism


laryngo-onycho-cutaneous syndrome

description: LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites.


Meier-Gorlin syndrome 4

description: Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDT1 gene.


nephronophthisis 7

description: Any nephronophthisis in which the cause of the disease is a mutation in the GLIS2 gene.


retinal capillary malformation

description: Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles.


TCF12-related craniosynostosis

description: Any syndromic craniosynostosis in which the cause of the disease is a mutation in the TCF12 gene.


name: combined oxidative phosphorylation deficiency 32


postauricular lymphadenitis

description: Inflammation of the postauricular lymph nodes.


name: glycerol kinase deficiency, infantile form

description: Infantile glycerol kinase deficiency (GKD) is a severe form of GKD characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy.


name: feline bronchioloalveolar lung carcinoma

description: Bronchioloalveolar lung carcinoma that occurs in a cat.


monocular esotropia

description: A form of ocular misalignment characterized by an excessive convergence of the visual axes, resulting in a 'cross-eye' appearance. An example of this condition occurs when paralysis of the lateral rectus muscle causes an abnormal inward deviation of one eye on attempted gaze.


filarial elephantiasis

description: Parasitic infestation of the human lymphatic system by wuchereria bancrofti or brugia malayi. It is also called lymphatic filariasis.


epithelial-stromal TGFBI dystrophy

description: Any corneal dystrophy (disease) in which the cause of the disease is a mutation in the TGFBI gene.


cataract 42

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA2 gene.


spina bifida, non-human animal

description: Spina bifida that occurs in non-human animals.


name: adult progressive spinal muscular atrophy, Aran Duchenne type

description: A progressive muscle weakness and atrophy of the limbs that irregularly affects certain muscles, while it spares others.


name: autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis


name: paternal uniparental disomy of chromosome 21

description: Paternal uniparental disomy of chromosome 21 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.


inverse Marcus-Gunn phenomenon

description: Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported.


vasculogenic impotence

description: Inability to achieve and maintain an erection (erectile dysfunction) due to defects in the arterial blood flow to the penis, defect in venous occlusive function allowing blood drainage (leakage) from the erectile tissue (corpus cavernosum penis), or both.


name: isolated autosomal dominant hypomagnesemia, Glaudemans type

description: Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal.


bulbar polio

description: A form of paralytic poliomyelitis affecting neurons of the medulla oblongata of the brain stem. Clinical features include impaired respiration, hypertension, alterations of vasomotor control, and dysphagia. Weakness and atrophy of the limbs and trunk due to spinal cord involvement is usually associated. (From Adams et al., Principles of Neurology, 6th ed, p765)


name: idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation


dysautonomia, domestic cat

description: Dysautonomia that occurs in domestic cat.


name: pyridoxine-dependent epilepsy caused by ALDH7A1 mutant


name: Niemann-Pick disease type C, severe early infantile neurologic onset


vagina leiomyosarcoma

description: An aggressive malignant smooth muscle neoplasm, arising from the vagina. It is characterized by a proliferation of neoplastic spindle cells.


name: pituitary deficiency due to empty sella turcica syndrome


name: malignant giant cell tumor of soft parts

description: An undifferentiated pleomorphic sarcoma characterized by the presence of osteoclast-like giant cells and cellular pleomorphism.


feline progressive histiocytosis

description: A condition occurring in cats characterized by solitary or multiple cutaneous nodules and papules, which may metastasize late in the course of the disease. Lesions consist of poorly circumscribed histiocytic infiltrates of the superficial and deep dermis, with variable extension into the subcutis.


miliaria

description: A small (one mm or less) vesicular, papular or pustular monomorphous rash, which is associated with heat, fever or occlusion of sweat glands.


coinfection

description: The simultaneous infection of a host by multiple pathogen species.


name: hydrocephalus, congenital, 3, with brain anomalies


name: Pseudomonas aeruginosa infectious disease


name: nasal cavity and paranasal sinus neoplasm

description: A benign or malignant neoplasm that affects the nasal cavity or paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.


microphthalmia, Nile tilapia

description: Microphthalmia that occurs in Nile tilapia.


glycerol kinase deficiency, adult form

description: Adult glycerol kinase deficiency (GKD) is an uncommon form of GKD diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults.


name: endometrioid stromal and related neoplasms of the cervix

description: A category of rare neoplasms that arise from the cervix. It includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma.


Marie Unna hereditary hypotrichosis

description: A rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty.


bacterial sexually transmitted disease

description: Bacterial diseases that are potentially transmitted or propagated by sexual conduct.


connective and soft tissue neoplasm

description: A benign, intermediate, or malignant neoplasm that affects the connective and soft tissue.


myofibrillar myopathy, horse

description: Myofibrillar myopathy that occurs in horse.


extrarenal rhabdoid tumor

description: A rhabdoid tumor which arises in the soft tissues. It occurs in infants and children and may be associated with loss of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm.


name: echinococcus granulosus infectious disease

description: An disease or disorder caused by infection with Echinococcus granulosus.


name: radial deficiency-tibial hypoplasia syndrome


achondrogenesis

description: Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2.


myopathy, dog

description: Myopathy that occurs in dog.


ureter leiomyoma

description: A benign smooth muscle neoplasm arising from the ureter. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.


name: intellectual developmental disorder, X-linked 110


intracranial abscess

description: An abscess that is located in the intracranial space.


name: erythrokeratodermia variabilis et progressiva 3


name: precursor T-cell acute lymphoblastic leukemia


homocarnosinosis

description: Homocarnosinosis is a metabolic defect characterized by progressive spastic diplegia, intellectual deficit and retinitis pigmentosa. This extremely rare disorder has been reported in only one family, namely a woman and three of her children. The latter showed progressive spastic diplegia, mental retardation and retinitis pigmentosa but their mother was symptom free. It is therefore uncertain whether there is a relationship between the biochemical defect and the clinical symptoms. Inheritance in the reported family seems to be autosomal dominant.


name: spinal muscular atrophy with respiratory distress type 2

description: Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene.


name: myopathy with hexagonally cross-linked tubular arrays

description: Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without musclar weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus.


name: neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss


phenobarbital embryopathy

description: A teratologic disorder associated with intrauterine exposure of phenorbarbital during the first trimester of pregnancy. Infants are usually asymptomatic but an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism, epicanthus, hypoplasia and low insertion of the nose, low insertion of the ears, prognathism, ﬁnger hypoplasia, brachydactyly and hypospadias have been reported in rare cases.


name: neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome


name: CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome

description: A rare genetic autoinflammatory syndrome with immune deficiency characterized by a combination of autoinflammation, immunodeficiency, and neutrophil dysfunction, as well as mild bleeding diathesis. Patients present recurrent attacks of abdominal pain, high fever, and systemic inflammation lasting four to five days and occurring every few weeks. Attacks may be accompanied by nailbed, tongue, submandibular, and gluteal abscesses, intra-abdominal granulomas, pyoderma gangrenosum, and buccal ulcerations. Frequent episodes of purulent paronychia, superficial skin and mucosal infections, and purulent upper respiratory tract infections have also been reported.


alpha-mannosidosis, sheep

description: Alpha-mannosidosis that occurs in sheep.


nasal dermoid cyst

description: A dermoid cyst that involves the nose.


urolithiasis, goat

description: Urolithiasis that occurs in goat.


name: combined immunodeficiency due to GINS1 deficiency


hypotrichosis 10

description: A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 7p22.3-p21.3.


name: autosomal dominant epidermolytic ichthyosis

description: An autosomal dominant inherited skin disorder caused by mutations in the KRT1 and KRT10 genes. It is manifested at birth and is characterized by generalized erythema, skin blisters and skin fragility.


scleral disorder

description: A disorder affecting the sclera. Examples include inflammatory processes (e.g., scleritis and episcleritis), and degenerative processes. Primary tumors of the sclera are extremely rare.


Banki syndrome

description: Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965.


large cell medulloblastoma

description: A medulloblastoma composed of large cells with prominent nucleoli and a larger amount of cytoplasm in contrast with the cells of the classic medulloblastoma.


Warburg micro syndrome 3

description: Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB18 gene.


exfoliative ichthyosis

description: Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment.


platelet-type bleeding disorder 8

description: P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate.


integrative agnosia

description: Agnosia characterized by the inability to integrate perceptual wholes within knowledge.


name: hemangioma, capillary infantile, susceptibility to

description: An inherited susceptibility or predisposition to developing capillary infantile hemangioma.


cataract 26 multiple types

description: A cataract that has material basis in variation in the region 9q13-q22.


hyperostosis, pig

description: Hyperostosis that occurs in pig.


name: selective intrauterine growth restriction


chronic salpingitis

description: Chronic inflammation of the fallopian tube. It usually follows an acute inflammatory attack.


patent ductus arteriosus, sheep

description: Patent ductus arteriosus that occurs in sheep.


name: X-linked intellectual disability, Cantagrel type

description: X-linked Mental retardation Cantagrel type is characterized by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.


name: short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia


dracunculiasis

description: Dracunculiasis (Guinea worm disease) is a neglected tropical disease (NTD) characterized by a painful burning skin lesion from which the Dracunculus medinensis parasite emerges approximately 1 year after infection resulting from consumption of unsafe drinking water containing parasite-infected copepods (Cyclops spp., microcrustacea also called water fleas).


male infertility due to globozoospermia

description: Male infertility due to globozoospermia is a male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida and thus fertilization failures, even with intracytoplasmic spem injection, are frequent.


alternating hemiplegia of childhood 2

description: Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A3 gene.


name: epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive

description: A basal subtype of epidermolysis bullosa simplex EBS characterized by generalized or, less frequently, localized acral blistering.


endothrix infectious disease

description: A dermatophyte infection of the hair that nvade the hair shaft and internalize into the hair cell.


Olmsted syndrome 1

description: Any Olmsted syndrome in which the cause of the disease is a variation in the TRPV3 gene.


name: epidermolysis bullosa simplex 2E, with migratory circinate erythema

description: A basal subtype of epidermolysis bullosa simplex (EBS) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema.


tibial aplasia-ectrodactyly syndrome

description: Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.