name: 26S proteasome regulatory subunit 8, initiator methionine removed form (human)

description: A 26S proteasome regulatory subunit 8, initiator methionine removed form in human. Example: UniProtKB:P62195-1, 2-406.


age-related hearing impairment 2

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


name: procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 isoform h2 (human)

description: A procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q02809-2.


name: cysteine-rich protein 3 isoform h1 (human)

description: A cysteine-rich protein 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6Q6R5-1.


name: RelA-associated inhibitor methylated 1 (human)

description: A RelA-associated inhibitor (human) that has been methylated on the residue at the position equivalent to Arg-142 of the amino acid sequence represented by UniProtKB:Q8WUF5. UniProtKB:Q8WUF5, Arg-142, MOD:00658.


name: OSTC_DANRE Oligosaccharyltransferase complex subunit ostc (sprot)

description: An oligosaccharyltransferase complex subunit OSTC that is encoded in the genome of zebrafish.


name: oligosaccharyltransferase complex subunit ostc isoform 1 (zebrafish)

description: An oligosaccharyltransferase complex subunit OSTC isoform 1 that is encoded in the genome of zebrafish.


name: CDC26_DANRE Anaphase-promoting complex subunit CDC26 (sprot)

description: An anaphase-promoting complex subunit CDC26 that is encoded in the genome of zebrafish.


name: anaphase-promoting complex subunit CDC26

description: A protein that is a translation product of the human CDC26 gene or a 1:1 ortholog thereof.


name: CDC26_MOUSE Anaphase-promoting complex subunit CDC26 (sprot)

description: An anaphase-promoting complex subunit CDC26 that is encoded in the genome of mouse.


name: anaphase-promoting complex subunit CDC26 isoform 1 (rat)

description: An anaphase-promoting complex subunit CDC26 isoform 1 that is encoded in the genome of rat.


name: anaphase-promoting complex subunit CDC26 isoform 1

description: An anaphase-promoting complex subunit CDC26 that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8NHZ8-1 or a 1:1 ortholog thereof.


name: anaphase-promoting complex subunit CDC26 isoform 1 (human)

description: An anaphase-promoting complex subunit CDC26 isoform 1 that is encoded in the genome of human.


name: CDC26_HUMAN Anaphase-promoting complex subunit CDC26 (sprot)

description: An anaphase-promoting complex subunit CDC26 that is encoded in the genome of human.


name: anaphase-promoting complex subunit CDC26 isoform 1 (mouse)

description: An anaphase-promoting complex subunit CDC26 isoform 1 that is encoded in the genome of mouse.


name: CDC26_RAT Anaphase-promoting complex subunit CDC26 (sprot)

description: An anaphase-promoting complex subunit CDC26 that is encoded in the genome of rat.


name: WECA_ECOLI Undecaprenyl-phosphate alpha-N-acetylglucosaminyl 1-phosphate transferase (sprot)

description: An undecaprenyl-phosphate alpha-N-acetylglucosaminyl 1-phosphate transferase that is encoded in the genome of Escherichia coli K-12.


name: FBK96_ARATH F-box/kelch-repeat protein At4g39240 (sprot)

description: A protein that is a translation product of the At4g39240 gene in Arabidopsis thaliana.


name: breast cancer type 2 susceptibility protein sequence variant E2129* (human)

description: A breast cancer type 2 susceptibility protein (human) that has has been truncated after the position equivalent to Lys-2128 of the amino acid sequence represented by UniProtKB:P51587. UniProtKB:P51587, 1-2128.


name: Small Intestinal High Grade B-Cell Lymphoma, Not Otherwise Specified

description: High-grade B-cell lymphoma, not otherwise specified, that arises from the small intestine.


Mietens syndrome

description: Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii.


name: YGID_SCHPO Uncharacterized protein C2A9.13 (sprot)

description: A protein that is a translation product of the SPBC2A9.13 gene in Schizosaccharomyces pombe 972h-.


name: signal recognition particle subunit SRP72, initiator methionine removed form

description: A signal recognition particle subunit SRP72 that has had the initiator methionine removed.


name: signal recognition particle subunit SRP72, initiator methionine removed form (human)

description: A signal recognition particle subunit SRP72 (human) that has had the initiator methionine removed. UniProtKB:O76094, 2-671.


exportin-6 isoform 1 (human)

An exportin-6 isoform 1 that is encoded in the genome of human.


glycogenin-1 isoform 1 (mouse)

A glycogenin-1 isoform 2 that is encoded in the genome of mouse.


GLYG_MOUSE Glycogenin-1 (sprot)

A glycogenin-1 that is encoded in the genome of mouse.


name: integrator complex subunit 8 citrullinated 1 (human)

description: An integrator complex subunit 8 (human) that has been citrullinated on the residue at the position equivalent to Arg-745 of the amino acid sequence represented by UniProtKB:Q75QN2-1. Example: UniProtKB:Q75QN2-1, Arg-745, MOD:00219.


name: PB2_I83A5 Polymerase basic protein 2 (sprot)

description: A polymerase basic protein 2 (Influenza A virus) that is encoded in the genome of the H5N2 strain A/Chicken/Pennsylvania/1/1983.


name: ferritin light chain, initiator methionine removed form (human)

description: A ferritin light chain (human) that has had the initiator methionine removed. UniProtKB:P02792, 2-175.


name: CTU2_DROME Cytoplasmic tRNA 2-thiolation protein 2 (sprot)

description: A protein that is a translation product of the CG10189 gene in fruit fly.


name: RT21_SCHPO Small ribosomal subunit protein bS21m (sprot)

description: A protein that is a translation product of the mrp21 gene in Schizosaccharomyces pombe 972h-.


vanillin acetate

A phenyl acetate obtained by the formal condensation of phenolic group of vanillin with acetic acid.


name: multicentric osteolysis, nodulosis, and arthropathy

description: A rare, autosomal recessive inherited syndrome caused by mutations in the MMP2 gene. It is characterized by the presence of multiple, painless subcutaneous nodules, osteolysis particularly in the hands and feet, osteoporosis, and arthropathy.


description: A rare genetic chronic skeletal disorder characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations.


Winchester syndrome

description: An autosomal recessive inherited disorder, caused by mutation(s) in the MMP14 gene, encoding matrix metalloproteinase-14. It is characterized by short stature, coarse facial features, flat nose, joint contractures, severe osteolysis in the hands and feet, and generalized osteoporosis.


GAG_SIVGB Gag polyprotein (sprot)

A lentivirus-type gag polyprotein that is encoded in the genome of Simian immunodeficiency virus (isolate GB1).


name: oxidation resistance protein 1 isoform h2 (human)

description: An oxidation resistance protein 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8N573-2.


name: DNA replication licensing factor MCM6 methylated 1 (human)

description: A DNA replication licensing factor MCM6 (human) that has been methylated on the residue at the position equivalent to Cys-242 of the amino acid sequence represented by UniProtKB:Q14566. UniProtKB:Q14566, Cys-242, MOD:00660.


pro-neuropeptide Y isoform 1 (mouse)

A neuropeptide Y isoform 1 that is encoded in the genome of mouse.


(-)-gamma-cadinene

A member of the cadinene family of sesquiterpenes in which the isopropyl group is cis to the hydrogen at the adjacent bridgehead carbon (the 1R,4aS,8aS enantiomer).


name: Stage IIIA Retroperitoneal Sarcoma AJCC v8

description: Stage IIIA includes: T2, N0, M0, G2, G3. T2: Tumor measuring more than 5 cm and less than or equal to 10 cm in greatest dimension. N0: No regional lymph node metastasis or unknown lymph node status. M0: No distant metastasis. G2: Total differentiation, mitotic count and necrosis score of 4 or 5. G3: Total differentiation, mitotic count and necrosis score of 6, 7, or 8. (AJCC 8th ed.)


retroperitoneal sarcoma

description: A sarcoma involving a retroperitoneal space.


Adrenal Gland Leiomyosarcoma

description: A rare leiomyosarcoma that arises from the adrenal gland.


name: Retroperitoneal Malignant Peripheral Nerve Sheath Tumor

description: Malignant peripheral nerve sheath tumor that arises in the retroperitoneum.


name: Stage IIIB Retroperitoneal Sarcoma AJCC v8

description: Stage IIIB includes: (T3, T4, N0, M0, G2, G3); (Any T, N1, M0, Any G). T3: Tumor measuring more than 10 cm and less than or equal to 15 cm in greatest dimension. T4: Tumor measuring more than 15 cm in greatest dimension. N0: No regional lymph node metastasis or unknown lymph node status. N1: Regional lymph node metastasis. M0: No distant metastasis. G2: Total differentiation, mitotic count and necrosis score of 4 or 5. G3: Total differentiation, mitotic count and necrosis score of 6, 7, or 8. (AJCC 8th ed.)


Stage I Retroperitoneal Sarcoma AJCC v8

description: Stage I includes: IA: (T1, N0, M0, G1, GX); IB: (T2, T3, T4, N0, M0, G1, GX). T1: Tumor measuring 5 cm or less in greatest dimension. T2: Tumor measuring more than 5 cm and less than or equal to 10 cm in greatest dimension. T3: Tumor measuring more than 10 cm and less than or equal to 15 cm in greatest dimension. T4: Tumor measuring more than 15 cm in greatest dimension. N0: No regional lymph node metastasis or unknown lymph node status. M0: No distant metastasis. GX: Grade cannot be assessed. G1: Total differentiation, mitotic count and necrosis score of 2 or 3. (AJCC 8th ed.)


name: Stage IA Retroperitoneal Sarcoma AJCC v8

description: Stage IA includes: T1, N0, M0, G1, GX. T1: Tumor measuring 5 cm or less in greatest dimension. N0: No regional lymph node metastasis or unknown lymph node status. M0: No distant metastasis. GX: Grade cannot be assessed. G1: Total differentiation, mitotic count and necrosis score of 2 or 3. (AJCC 8th ed.)


Adrenal Gland Angiosarcoma

description: A rare malignant soft tissue neoplasm arising from the vascular endothelium of the adrenal gland.


name: Stage III Retroperitoneal Sarcoma AJCC v8

description: Stage III includes: IIIA: (T2, N0, M0, G2, G3); IIIB: (T3, T4, N0, M0, G2, G3); (Any T, N1, M0, Any G). T2: Tumor measuring more than 5 cm and less than or equal to 10 cm in greatest dimension. T3: Tumor measuring more than 10 cm and less than or equal to 15 cm in greatest dimension. T4: Tumor measuring more than 15 cm in greatest dimension. N0: No regional lymph node metastasis or unknown lymph node status. N1: Regional lymph node metastasis. M0: No distant metastasis. G2: Total differentiation, mitotic count and necrosis score of 4 or 5. G3: Total differentiation, mitotic count and necrosis score of 6, 7, or 8. (AJCC 8th ed.)


Retroperitoneal Rhabdomyosarcoma

description: A rhabdomyosarcoma arising from the retroperitoneum.


name: Stage II Retroperitoneal Sarcoma AJCC v8

description: Stage II includes: T1, N0, M0, G2, G3. T1: Tumor measuring 5 cm or less in greatest dimension. N0: No regional lymph node metastasis or unknown lymph node status. M0: No distant metastasis. G2: Total differentiation, mitotic count and necrosis score of 4 or 5. G3: Total differentiation, mitotic count and necrosis score of 6, 7, or 8. (AJCC 8th ed.)


name: Retroperitoneal Undifferentiated Pleomorphic Sarcoma

description: A rare undifferentiated pleomorphic sarcoma that arises from the retroperitoneum.


name: Retroperitoneal Sarcoma by AJCC v8 Stage

description: A term that refers to the staging of retroperitoneal soft tissue sarcoma, following the rules of the TNM AJCC v8 classification system. This staging system applies to common sarcomas in the retroperitoneum. (from AJCC 8th Ed.)


retroperitoneal leiomyosarcoma

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


name: Stage IV Retroperitoneal Sarcoma AJCC v8

description: Stage IV includes: Any T, Any N, M1, Any G. M1: Distant metastasis. (AJCC 8th ed.)


Adrenal Gland Sarcoma

description: A rare sarcoma that arises from the adrenal gland.


name: Stage IB Retroperitoneal Sarcoma AJCC v8

description: Stage IB includes: T2, T3, T4, N0, M0, G1, GX. T2: Tumor measuring more than 5 cm and less than or equal to 10 cm in greatest dimension. T3: Tumor measuring more than 10 cm and less than or equal to 15 cm in greatest dimension. T4: Tumor measuring more than 15 cm in greatest dimension. N0: No regional lymph node metastasis or unknown lymph node status. M0: No distant metastasis. GX: Grade cannot be assessed. G1: Total differentiation, mitotic count and necrosis score of 2 or 3. (AJCC 8th ed.)


name: transforming growth factor beta-1-induced transcript 1 protein isoform m5 (mouse)

description: A transforming growth factor beta-1-induced transcript 1 protein (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q62219-5.


name: transforming growth factor beta-1-induced transcript 1 protein

description: A protein that is a translation product of the human TGFB1I1 gene or a 1:1 ortholog thereof.


name: transforming growth factor beta-1-induced transcript 1 protein isoform m9 (mouse)

description: A transforming growth factor beta-1-induced transcript 1 protein (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q62219-9.


name: transforming growth factor beta-1-induced transcript 1 protein isoform m6 (mouse)

description: A transforming growth factor beta-1-induced transcript 1 protein (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q62219-6.


name: transforming growth factor beta-1-induced transcript 1 protein isoform h2 (human)

description: A transforming growth factor beta-1-induced transcript 1 protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O43294-2.


name: transforming growth factor beta-1-induced transcript 1 protein isoform 1 (mouse)

description: A transforming growth factor beta-1-induced transcript 1 protein isoform 1 that is encoded in the genome of mouse.


name: transforming growth factor beta-1-induced transcript 1 protein isoform 1

description: A transforming growth factor beta-1-induced transcript 1 protein that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O43294-1 or a 1:1 ortholog thereof.


name: transforming growth factor beta-1-induced transcript 1 protein phosphorylated 1 (human)

description: A transforming growth factor beta-1-induced transcript 1 protein (human) that has been phosphorylated on the residue at the position equivalent to Tyr-60 of the amino acid sequence represented by UniProtKB:O43294-1. Example: UniProtKB:O43294-1, Tyr-60, MOD:00048.


name: transforming growth factor beta-1-induced transcript 1 protein isoform m2 (mouse)

description: A transforming growth factor beta-1-induced transcript 1 protein (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q62219-2.


name: transforming growth factor beta-1-induced transcript 1 protein isoform m8 (mouse)

description: A transforming growth factor beta-1-induced transcript 1 protein (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q62219-8.


name: transforming growth factor beta-1-induced transcript 1 protein isoform m10 (mouse)

description: A transforming growth factor beta-1-induced transcript 1 protein (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q62219-10.


name: TGFI1_MOUSE Transforming growth factor beta-1-induced transcript 1 protein (sprot)

description: A transforming growth factor beta-1-induced transcript 1 protein that is encoded in the genome of mouse.


name: transforming growth factor beta-1-induced transcript 1 protein isoform m7 (mouse)

description: A transforming growth factor beta-1-induced transcript 1 protein (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q62219-7.


name: transforming growth factor beta-1-induced transcript 1 protein isoform m3 (mouse)

description: A transforming growth factor beta-1-induced transcript 1 protein (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q62219-3.


name: transforming growth factor beta-1-induced transcript 1 protein isoform m4 (mouse)

description: A transforming growth factor beta-1-induced transcript 1 protein (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q62219-4.


name: transforming growth factor beta-1-induced transcript 1 protein phosphorylated 2 (human)

description: A transforming growth factor beta-1-induced transcript 1 protein (human) that has been phosphorylated on the residue at the position equivalent to Ser-68 of the amino acid sequence represented by UniProtKB:O43294-1. Example: UniProtKB:O43294-1, Ser-68, MOD:00046.


name: transforming growth factor beta-1-induced transcript 1 protein isoform 1 (rat)

description: A transforming growth factor beta-1-induced transcript 1 protein isoform 1 that is encoded in the genome of rat.


name: TGFI1_RAT Transforming growth factor beta-1-induced transcript 1 protein (sprot)

description: A transforming growth factor beta-1-induced transcript 1 protein that is encoded in the genome of rat.


name: TGFI1_HUMAN Transforming growth factor beta-1-induced transcript 1 protein (sprot)

description: A transforming growth factor beta-1-induced transcript 1 protein that is encoded in the genome of human.


name: transforming growth factor beta-1-induced transcript 1 protein isoform 1 (human)

description: A transforming growth factor beta-1-induced transcript 1 protein isoform 1 that is encoded in the genome of human.


name: ADP/ATP translocase 3 methylated 1 (human)

description: An ADP/ATP translocase 3 (human) that has been methylated on the residue at the position equivalent to Cys-57 of the amino acid sequence represented by UniProtKB:P12236. UniProtKB:P12236, Cys-57, MOD:00660.


name: ECEL1_RAT Endothelin-converting enzyme-like 1 (sprot)

description: An endothelin-converting enzyme-like 1 that is encoded in the genome of rat.


endothelin-converting enzyme-like 1

A protein that is a translation product of the human ECEL1 gene or a 1:1 ortholog thereof.


name: endothelin-converting enzyme-like 1 isoform h2 (human)

description: An endothelin-converting enzyme-like 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O95672-2.


name: endothelin-converting enzyme-like 1 isoform h1 (human)

description: An endothelin-converting enzyme-like 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O95672-1.


name: ECEL1_MOUSE Endothelin-converting enzyme-like 1 (sprot)

description: An endothelin-converting enzyme-like 1 that is encoded in the genome of mouse.


name: ECEL1_HUMAN Endothelin-converting enzyme-like 1 (sprot)

description: An endothelin-converting enzyme-like 1 that is encoded in the genome of human.


NPL21_CAEEL Neprilysin-21 (sprot)

An endothelin-converting enzyme-like 1 that is encoded in the genome of worm.


name: Anti-nucleolus-organizing region antibody positivity

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

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Nor90.


Upper limb phocomelia

description: Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).


Class III obesity

description: Obesity with a body mass index of 40 kg per square meter or higher.


Ethmocephaly

description: Ethmocephaly is the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain. Clinically, the disease presents with a proboscis, hypotelorism, microphthalmos and malformed ears.


name: Subtentorial periventricular white matter hyperdensity

description: Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the fourth cerebral ventricle (which is located beneath the tentorium of the cerebellum).


Upper motor neuron dysfunction

description: A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs.


Cervical ectopia cordis

description: A type of ectopia cordis with the heart partially in the cervical region and without a defect of the sternum.


factor VII deficiency

description: A coagulation disorder characterized by the partial or complete absence of factor VII activity in the blood.


histrionic personality disorder

description: A disorder characterized by an enduring pattern of excessively intense and superficial emotionality, attention seeking behavior, seductive appearance and speech, self dramatization and/or theatrical behavior.


spinal cord disorder

description: A disease involving the spinal cord.


Multifocal breast carcinoma

description: Breast carcinoma that is bilateral or otherwise multifocal.


Anti-GM3 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM3.


female orgasmic disorder

description: A sexual disorder in which a woman fails to achieve orgasm during sexual intercourse.


Papillary renal cell carcinoma type 2

description: A type of papillary renal cell carcinoma in which the papillae are covered by large eosinophilic cells with pleomorphic nuclei, prominent nucleoli, and nuclear pseudostratification.


name: Focal impaired awareness sexual automatism seizure

description: A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by involuntary sexual behavior at onset.


Abnormal limb bone morphology

description: Any abnormality of bones of the arms or legs.


Intrapulmonary lobar sequestration

description: A type of pulmonary sequestration that occurs within the visceral pleura of normal lung tissue, usually without communication with the tracheobronchial tree.


Horseshoe kidney

description: A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.


X-linked calvarial hyperostosis

description: Excessive growth of the calvaria.


arthrogryposis multiplex congenita

description: Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by congenital limb contractures. It manifests as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. AMC is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures.


Abnormality of immune system physiology

description: A functional abnormality of the immune system.


Anti-PM-Scl antibody positivity

description: Anti-PM-Scl antibodies target components of RNA-processing exosome complex in the nucleolus. There are ten proteins in this complex and antibodies to eight of them are found at varying frequencies; PM/Scl-100, PM/Scl-75, hRrp4, hRrp42, hRrp46, hCs14, hRrp41, and hRrp40.


Abnormal ventriculoarterial connection

description: An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta.


pleomorphic xanthoastrocytoma

description: A WHO grade ll astrocytic tumor with a relatively favorable prognosis. It is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies. It presents in the superficial cerebral hemispheres and involves the meninges. It typically affects children and young adults.


post-traumatic stress disorder

description: An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term.


pilonidal sinus

description: A hair-containing cyst or sinus, occurring chiefly in the coccygeal region.


name: congenital anomalies of kidney and urinary tract 2

description: Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the TBX18 gene.


name: Abnormal tricuspid valve leaflet morphology

description: Any structural anomaly of the leaflets (also known as cusps) of the tricuspid valve.


cardiogenic shock

description: A rare, cardiac condition characterized by severely decreased cardiac output, hypoperfusion and end-organ dysfunction, in the presence of adequate intravascular volume. The clinical presentation is variable and may range from subtle hemodynamic alterations to overt cardiovascular collapse. Commonly reported features include dyspnea, crackles, elevated jugular venous pressure, altered mental state, abnormal pulse pressure, oliguria, cold extremities, and increased serum lactate levels.


name: Anti-multiple nuclear dots antibody positivity

description: A type of antinuclear antibody (ANA) positivity revealed by indirect immunofluorescence (IFL). The multiple nuclear dots (MND) pattern is immunomorphologically characterized by the staining of 3-20 dots of variable size distributed all over the cell nucleus, but sparing the nucleoli, and, in contrast to the anticentromere pattern, MND reactivity does not stain the chromosomes in mitotic cells.


name: Punctate periventricular T2 hyperintense foci

description: Multiple pointlike areas of high T2 signal observed upon magnetic resonance imaging of the periventricular cerebral white matter.


polymicrogyria

description: A developmental brain abnormality characterized by an excessive amount of small convolutions on the surface of the brain and cognitive dysfunction.


atopic eczema

description: A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema.


central nervous system origin vertigo

description: An illusion of movement, either of the external world revolving around the individual or of the individual revolving in space. Vertigo may be associated with disorders of the inner ear (ear, inner); vestibular nerve; brainstem; or cerebral cortex. Lesions in the temporal lobe and parietal lobe may be associated with focal seizures that may feature vertigo as an ictal manifestation. (From Adams et al., Principles of Neurology, 6th ed, pp300-1)


Elevated myocardial native T1

description: Increased duration of myocardial T1 time without gadolinium contrast. T1 mapping consists of quantifying the T1 relaxation time of a tissue by using analytical expressions of image-based signal intensities. A fundamental principle of MR imaging is that the signal intensity of pixels is based on the relaxation of hydrogen nuclei protons in a static magnetic field. The T1 relaxation times between two tissues vary substantially. Edema, fat infiltration, and fibrosis also cause differences in T1 relaxivity.


kidney neoplasm

description: A benign or malignant neoplasm affecting the kidney. Representative examples of benign renal neoplasms include fibroma, lipoma, oncocytoma, and juxtaglomerular cell tumor. Representative examples of malignant renal neoplasms include renal cell carcinoma, renal pelvis carcinoma, Wilms tumor, rhabdoid tumor, sarcoma, and lymphoma.


Endogenous lipoid pneumonia

description: A type of lipoid pneumonia in which the source of the lipids is the body itself. When an airway is obstructed, it is often the case that distal to the obstruction, lipid-laden macrophages and giant cells fill the lumen of the disconnected airspace.


Type II pneumocyte hypertrophy

description: Increase in size of type II pneumocytes, characterized by qualitative morphologic alterations, including cuboidal shapes, increased nucleocytoplasmic ratio, enlarged nuclei, prominent nucleoli, and various alterations in their nuclear chromatin.


incisors, lower central, absence of

description: Agenesis of lower secondary incisor or lower primary incisor.


embryonal rhabdomyosarcoma

description: A poorly circumscribed morphologic variant of rhabdomyosarcoma. It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis.


teeth present at birth

description: A tooth present at birth or erupting within the first month of life.


alopecia

description: Hair loss usually from the scalp. It may result in bald spots or spread to the entire scalp or the entire epidermis. It may be androgenetic or caused by chemotherapeutic agents, compulsive hair pulling, autoimmune disorders or congenital conditions.


Abnormal anatomic location of the heart

description: Developmental defect characterized by an anomalous anatomic location of the heart.


orotic aciduria

description: An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine.


orthostatic hypotension

description: Sudden fall of the blood pressure of at least 20/10 mm Hg when a person stands up.


carotid stenosis

description: A narrowing of the carotid artery lumen. It is usually caused by the formation of an atherosclerotic plaque. Symptoms are usually present when there is severe narrowing or obstruction of the arterial lumen and manifest as ischemic cerebrovascular accidents.


Anti-titin antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against titin.


congenital microgastria

description: Congenital microgastria is a rare malformation where the embryological development of the stomach is interrupted, leading to an abnormally small foregut in newborns and characterized by extreme feeding intolerance and malnutrition along with growth retardation and death if untreated. It is usually associated with multiple congenital anomalies.


Bicuspid pulmonary valve

description: The presence of a bicuspid pulmonary valve.


spermatic cord torsion

description: An emergency condition caused by the twisting of the spermatic cord which contains the vessels that provide the blood supply to the testis and surrounding structures. It manifests with acute testicular pain. If immediate medical assistance is not provided, it will lead to necrosis and loss of the testicular tissue.


Fetal anomaly

description: Structural or functional abnormalities of the fetus. Note that this section comprises terms that describe abnormalities that are specific to the fetus or differ from the corresponding general terms. A term from anywhere in the Human Phenotype Ontology can be applied to a fetus if appropriate.


dermatitis

description: An inflammatory process affecting the skin. Signs include red rash, itching, and blister formation. Representative examples are contact dermatitis, atopic dermatitis, and seborrheic dermatitis.


West syndrome

description: West syndrome (or infantile spasms) is characterized by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development.


Focal aware emotional seizure

description: A focal emotional seizure during which awareness is retained throughout the seizure.


His bundle tachycardia

description: His bundle tachycardia is a very rare congenital genetic tachyarrhythmia characterized by incessant tachycardia and high morbidity and mortality.


name: Pulmonary interstitial high-resolution computed tomography abnormality

description: High-resolution computed tomography (HRCT) can distinguish findings that characterize characterize interstitial lung diseases in a way not possible with other modalities.


name: Cellular non-specific interstitial pneumonia

description: A type of non-specific interstitial pneumonia in which interstitial thickening is mainly due to infiltration of inflammatory cells and type II pneumocyte hyperplasia.


Mucinous gastric carcinoma

description: A poorly differentiated type of gastric carcinoma with a substantial amount of extracellular mucus (over 50% of tumor volume) within the tumor.


Organic aciduria

description: Excretion of non-amino organic acids in urine.


Abnormality of the vasculature

description: An abnormality of the vasculature.


embryonal neoplasm

description: A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003


Anti-factor VIII antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against factor VIII.


renal dysplasia, bilateral

description: Bilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD.


Furuncle

description: An infection of a hair follicle that extends subcutaneously, forming an abscess.


Ambiguous atrioventricular connection

description: With left or right cardiac isomerism in a biventricular, the atrioventricular connections are perforce ambiguous, in that one of the connections is concordant (e.g., right-sided morphologic right atrium connected to a morphologic right ventricle) and one of the connections is discordant (e.g., left-sided morphologic right atrium connected to a morphologic left ventricle).


dyscalculia

description: A wide group of related learning disorders characterized by difficulties with mathematics and manipulating numbers; the difficulty with math may be caused or exacerbated by visuo-spatial or language processing difficulties.


Anti-HLA-B IgG3 antibody positivity

description: The presence of IgG3 autoantibodies in the blood circulation that react against a human leukocyte antigen-B (HLA-B).


Maternal seizure

description: A seizure during pregnancy.


iniencephaly

description: Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system.


tinea unguium

description: A fungal infection of the nail, usually caused by dermatophytes; yeasts; or nondermatophyte molds.


bilateral generalized polymicrogyria

description: Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain. Signs and symptoms include severe intellectual disability, problems with movement, and seizures that are difficult or impossible to treat. While the exact cause of bilateral generalized polymicrogyria is not fully understood, it is thought to be due to improper brain development during embryonic growth. Most cases appear to follow an autosomal recessive pattern of inheritance. Treatment is based on the signs and symptoms present in each person.


Pulmonary artery atresia

description: A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery.


choriocarcinoma

description: An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected.


Anti-factor IX antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against factor IX.


Amyloidosis of peripheral nerves

description: The presence of amyloid deposition in the nerves of the peripheral nervous system.


neuroma

description: A tumor that grows from a nerve or is composed of nerve cells and nerve fibers.


Abnormal adrenal morphology

description: Any structural anomaly of the adrenal glands.


Lymph node abscess

description: An inflamed lymph node that is filled with pus.


benign cystic nephroma

description: A benign encapsulated neoplasm of the kidney, characterized by the presence of cysts separated by septa. There are no solid areas present. The septa are lined by one layer of epithelial cells that have eosinophilic or clear cytoplasm. The cystic spaces contain serous or hemorrhagic fluid.


Panacinar emphysema

description: Panacinar emphysema involves all portions of the acinus and secondary pulmonary lobule more or less uniformly. It predominates in the lower lobes and is the form of emphysema associated with1-antitrypsin deficiency. CT scans show a generalized decrease of the lung parenchyma with a decrease in the caliber of blood vessels in the affected lung. Severe panacinar emphysema may coexist and merge with severe centrilobular emphysema. The appearance of feature less decreased attenuation may be indistinguishable from severe constrictive obliterative bronchiolitis.


Neonatal hypotonia

description: Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.


Abnormal stool composition

description: Abnormal level of metabolite or other abnormal analyte result in a stool test.


name: Mosaic attenuation pattern on pulmonary HRCT

description: A patchwork of intermingled areas of increased and decreased attenuation visualized on pulmonary high-resolution computed tomography.


syndromic agammaglobulinemia

description: A agammaglobulinemia that is part of a larger syndrome.


name: Abnormal circulating enzyme concentration or activity

description: Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation.


Anti-GT1a IgG antibody positivity

description: The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside.


atransferrinemia

description: Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.


name: Focal impaired awareness autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena

description: A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by impaired awareness at some point during the seizure.


name: spondyloepimetaphyseal dysplasia, Strudwick type

description: A spondyloepimetaphyseal dysplasia characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).


Anti-Iglon5 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against immunoglobulin-like cell adhesion molecule 5 (IgLON5).


Pulmonary capillary angioectasia

description: Focal accumulation of dilated pulmonary capillaries.


Dysphonia

description: Difficulty in speaking due to a physical disorder of the mouth, tongue, throat, or vocal cords. Associated with a known physical or neurological cause.


trichotillomania

description: A disorder characterized by repetitive pulling out of one's hair resulting in noticeable hair loss; the individual experiences a rising subjective sense of tension before pulling out the hair and a sense of gratification or relief when pulling out the hair.


Kommerell diverticulum

description: Kommerell diverticulum (KD) is a developmental anomaly of the aortic arch characterized by a diverticulum at the proximal descending aorta of left or right arch configuration that gives rise to an aberrant subclavian artery. KD is primarily asymptomatic but may become symptomatic secondary to dilatation of KD, atheroma and fibrotic changes in paratracheal or paraesophageal tissue, presenting with signs of tracheal compression (more common in children), esophageal compression (dysphagia lusoria; more common in patients with a right sided aortic arch), chest pain, or blood pressure difference in the upper limbs. KD may also predispose toward aortic dissection or rupture.


Metastatic angiosarcoma

description: An angiosarcoma that has spread to another anatomical site.


polydactyly

description: A disease characterized by the presence of polydactyly, including syndromic and non-syndromic forms.


alobar holoprosencephaly

description: Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE) characterized by a single brain ventricle and no interhemispheric fissure.


acute promyelocytic leukemia

description: An aggressive form of acute myeloid leukemia (AML), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells. APL manifests with easy bruising, hemorrhagic diathesis and fatigue.


name: Abnormal cellular immune system morphology

description: An abnormality of the morphology or counts of the cells that make up the immune system.


Abnormal coronary artery origin

description: Isolated abnormalities of the coronary artery origins. This may be in associated with other structural heart malformations but not the patterns of complex structural heart malformations which result in abnormal course of the coronary arteries.


name: Focal cognitive seizure with memory impairment

description: A focal cognitive seizure characterized by transient memory impairment as the initial semiological manifestation whilst other cognitive functions and awareness are preserved at seizure onset. The memory impairment may be an inability to recall events occurring prior to the seizure (retrograde amnesia), or failure to encode new memories for events occurring during the seizure (anterograde amnesia).


osteopetrosis

description: Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs.


name: Nodular septal thickening on pulmonary HRCT

description: Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a nodular or beaded appearance of the interlobular septa.


regional odontodysplasia

description: Regional odontodysplasia (ROD) is a localized developmental anomaly of the dental tissues.


Abnormal hip bone morphology

description: An abnormality of the hip bone.


ectopic pregnancy

description: An abnormal pregnancy in which the conception is implanted outside the endometrial cavity.


name: Focal cognitive seizure with dissociation

description: A focal cognitive seizure characterized by an experience of being disconnected from, though aware of, self or environment as the initial semiological manifestation.


hypogonadotropic hypogonadism

description: Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis.


psoriasis

description: An autoimmune condition characterized by red, well-delineated plaques with silvery scales that are usually on the extensor surfaces and scalp. They can occasionally present with these manifestations: pustules; erythema and scaling in intertriginous areas, and erythroderma, that are often distributed on extensor surfaces and scalp.


Recurrent bronchiolitis

description: An increased susceptibility to bronchiolitis as manifested by a history of recurrent bronchiolitis.


brain aneurysm

description: A congenital or acquired aneurysm within the cranium.


lipoma

description: A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue.


Abnormal bone structure

description: Any anomaly in the composite material or the layered arrangement of the bony skeleton.


Papillary cystadenoma of the epididymis

description: A cystadenoma, an epithelial tumor, that originates within the head of the epididymis.


Generalized-onset epileptic spasm

description: A type of epileptic spasm of generalized onset.


description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against contactin-associated protein-like 2 (CASPR2).


name: seizures-intellectual disability due to hydroxylysinuria syndrome

description: Seizures-intellectual disability due to hydroxylysinuria syndrome is characterized by hydroxylysinuria, myoclonic and motor seizures and intellectual deficit. It has been described in a brother and sister born to consanguineous parents and in one unrelated patient.


Urinary bladder neurofibroma

description: A neurofibroma (benign peripheral nerve sheath tumor) located in the urinary bladder.


name: Focal aware emotional seizure with laughing

description: Focal emotional seizure with laughing in which awareness is retained throughout.


Common atrium

description: Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections.


Abnormal pulmonary fissure morphology

description: An abnormal form or number of the pulmonary fissures.


topographical agnosia

description: An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognize objects.


spasmodic dystonia

description: A chronic voice disorder characterized by momentary periods of uncontrolled spasms of the muscles of the larynx.


specific learning disability

description: Diagnosed when there are specific deficits in an individualbs ability to perceive or process information efficiently and accurately. This disorder first manifests during the years of formal schooling and is characterized by persistent and impairing difficulties with learning foundational academic skills in reading, writing, and/or math. The individualbs performance of the affected academic skills is well below average for age, or acceptable performance levels are achieved only with extraordinary effort. Specific learning disorder may occur in individuals identified as intellectually gifted and manifest only when the learning demands or assessment procedures (e.g., timed tests) pose barriers that cannot be overcome by their innate intelligence and compensatory strategies. For all individuals, specific learning disorder can produce lifelong impairments in activities dependent on the skills, including occupational performance. (from dsm-V)


colpocephaly

description: Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain - are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken.


Anti-factor H antibody positivity

description: The presence of an antibody in the blood circulation that is directed against factor H.


scapuloperoneal myopathy

description: A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm.


Primary microcephaly

description: Head circumference below 2 standard deviations below the mean for age and gender at birth.


odontogenic neoplasm

description: A benign or malignant neoplasm arising from tooth-forming tissues. It occurs in the maxillofacial skeleton or the gingiva. Benign tumors are slow growing and are not associated with specific clinical symptoms. Pain is absent or slight. Malignant tumors are usually associated with rapid swelling and pain.


description: Neonatal bilateral symmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) that occurs at both sides of the body symmetrically.


name: hypothyroidism, congenital, nongoitrous, 2

description: A congenital hypothyroidism that has material basis in heterozygous mutation in the PAX8 gene on chromosome 2q13.


Dyssynergia

description: A type of ataxia characterized by the impairment of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. With dyssynergia, a voluntary movement appears broken down into its component parts.


name: Anti-neurofascin 186 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF186.


name: Anomalous origin of the left anterior descending artery from the pulmonary artery

description: The left anterior descending artery (LAD) branches off from the pulmonary artery.


name: Focal impaired awareness sensory seizure with auditory features

description: A focal sensory seizure with auditory features in which awareness is partially or fully impaired at some point during the seizure.


Focal aware hyperkinetic seizure

description: A type of focal hypermotor seizure during which awareness is fully retained throughout.


Antigliadin antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against gliadin.


name: central nervous system primitive neuroectodermal neoplasm

description: A neuroectodermal tumor that involves the central nervous system.


Nervous tissue neoplasm

description: A neoplasm derived from nervous tissue (not necessarily a neoplasm located in the nervous system).


name: Bilateral symmetric neonatal sequential seizure

description: Symmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting symmetrically but with a variety of clinical and electrographic signs.


encephalomalacia

description: Localized atrophy of the brain parenchyma due to aging, hemorrhage, infarct, or inflammation.


Libman-Sacks lesions

description: Libman-Sacks valvular lesions are sterile fibrofibrinous vegetations that favor the left-sided heart valves and usually form on the ventricular surface of the mitral valve.


name: Focal cognitive seizure with deja vu/jamais vu

description: A focal cognitive seizure characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu) as the initial semiological manifestation.


name: Adult onset sensorineural hearing impairment

description: The presence of sensorineural deafness with late onset.


Focal clonic seizure

description: A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.


levocardia

description: A condition where the heart is in the correct anatomic position but some or all of the other thoracoabdominal viscera are in the opposite lateral orientation.


name: Abnormality of extrapyramidal motor function

description: A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).


verruciform xanthoma of skin

description: A rare, benign wart-like skin lesion of unknown etiology that is usually found in the genital or perianal area and consists of hyperkeratosis and aggregates of foam cell macrophages.


cocaine dependence

description: A psychologically and socially impaired state, with or without physiological changes, that develops as a result of using cocaine and which leads to compulsive behaviors to acquire the substance.


placenta accreta

description: The clinical condition in which any part of the placenta invades and is inseparable from the uterine wall. (reVITALize)


eclampsia

description: A potentially life-threatening pregnancy-related disorder characterized by tonic-clonic seizures in association with hypertension after the twentieth week of gestation and up to six weeks postpartum and in the absence of other potential causes of seizures.


choanal atresia

description: Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction.


brachydactyly type A4

description: Brachydactyly type A4 (BDA4) is a congenital malformation characterized by brachymesophalangy affecting mainly the 2nd and the 5th digit.


Cerebral venous thrombosis

description: Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow.


name: supratentorial primitive neuroectodermal tumor

description: A central nervous system embryonal tumor, not otherwise specified arising from the supratentorial region.


Mallory-Weiss syndrome

description: A disorder characterized by upper gastrointestinal tract bleeding caused by longitudinal mucosal tears in the gastroesophageal junction. The tears result from retching or forceful coughing. It was initially described in alcoholics.


Distal peripheral sensory neuropathy

description: Peripheral sensory neuropathy affecting primarily distal sensation.


herpes simplex encephalitis

description: Herpes simplex virus encephalitis (HSE) is caused by the infection of the central nervous system by Herpes simplex virus (HSV) that could have a devastating clinical course and a potentially fatal outcome particularly with delay or lack of treatment. HSV often involves the frontal and temporal lobes, usually asymmetrically, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness.


Raynaud disease

description: An episodic vasoconstriction resulting in discoloration of the skin and pain in the affected areas, often involving fingers or toes. Classically associated with triphasic color changes (white, blue, red) but may be biphasic. Often occurs in response to cold temperatures or emotional stress. May be primary or secondary to an underlying autoimmune disease.


name: Focal impaired awareness autonomic seizure with hypoventilation/hyperventilation/altered respiration

description: An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by impaired awareness at some point during the seizure.


Atelectasis

description: Collapse of part of a lung associated with absence of inflation (air) of that part.


Eating-induced seizure

description: A seizure precipitated by aspects of anticipating food, eating itself, or the post-prandial period.


name: Focal aware sensory seizure with vestibular features

description: A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation.


hydrocephalus

description: A disorder characterized by an abnormal increase of cerebrospinal fluid in the ventricles of the brain.


carpal tunnel syndrome

description: Entrapment of the median nerve in the wrist that is characterized by numbness, tingling and painful movement.


Calcium phosphate nephrolithiasis

description: The presence of calcium- and phosphate-containing calculi (stones) in the kidneys.


cervical incompetence

description: A clinical diagnosis presenting with painless cervical dilatation and spontaneous mid-trimester birth in recurrent pregnancies in the absence of spontaneous membrane rupture, bleeding or clinical chorioamnionitis.


Muscular subvalvular aortic stenosis

description: A type of subvalvular aortic stenosis resulting from thickening of the musculature of the interventricular septum, which results in obstruction to blood flow through the left-ventricular outflow tract.


name: Supracardiac total anomalous pulmonary venous connection

description: Type 1 total anomalous pulmonary venous connection.


pseudohypoparathyroidism

description: Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a), PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP).


Abnormal oral glucose tolerance

description: An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose.


Autonomic epileptic aura

description: An autonomic epileptic aura is a purely subjective manifestation of an epileptic seizure pertaining to autonomic nervous system function. Autonomic auras include cardiorespiratory (e.g., palpitations and shortness of breath), gastrointestinal, genitourinary (genital sensations, urinary urge), and cutaneous (feeling of warmth or cold) sensations. Abdominal auras constitute the most common type of autonomic aura. These include sensations of nausea, pain, or indescribable discomfort in the abdominal or periumbilical area that can be static, rise to the chest and throat, or descend into the lower abdominal region.


Recurrent respiratory infections

description: An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.


Oropharyngeal squamous papilloma

description: A benign exophytic neoplasm that arises from the oropharynx. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium [NCI thesaurus].


Small intestinal polyposis

description: The presence of multiple polyps in the small intestine.


pyromania

description: A disorder characterized by a fascination with fire and recurrent episodes of fire setting during which the individual experiences a rising subjective sense of tension before the fire setting and a sense of gratification or relief when setting the fire. There is no ulterior motive (such as monetary gain or the expression of political ideology) to the fire setting.


Abnormality of the respiratory system

description: An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.


Refractory status epilepticus

description: Refractory status epilepticus is defined as status epilepticus continuing despite two appropriately selected and dosed antiepileptic drugs, including a benzodiazepine.


Anti-NR2A antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the N-Methyl-D-aspartate (NMDA) receptor NR2A subunit.


autosomal dominant prognathism

description: Malocclusion in which the mandible is anterior to the maxilla as reflected by the first relationship of the first permanent molar (mesioclusion).


Myocardial fibrosis

description: Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts.


Inflammatory cap polyp

description: A non-malignant sessile or pedunculated polyp in the colon and rectum that displays a cap of inflammatory granulation tissue with fibrinopurulent exudate that covers the polyp.


inherited torticollis

description: A congenital benign lesion that occurs in the distal sternocleidomastoid muscle of infants. It is characterized by the presence of plump spindle cells, and collagenous stroma formation.


Recurrent pharyngitis

description: An increased susceptibility to pharyngitis as manifested by a history of recurrent pharyngitis.


Atypical absence seizure

description: An atypical absence seizure is a type of generalized non-motor (absence) seizure characterized by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity.


Abnormal dental morphology

description: An abnormality of the morphology of the tooth.


brain ischemia

description: Diminished or absent blood supply to the brain caused by obstruction (thrombosis or embolism) of an artery resulting in neurologic damage.


Pulmonary paraglioma

description: A rare paranglioma of the lung, tumors that arise from extra-adrenal chromaffin cells.


Intranuclear cardiomyocyte mitochondria

description: Abnormal localization of mitochondria within the nuclei of cardiomyocytes.


Pleural cyst

description: A closed sac-like structure originating from the pleura that contains a liquid, gaseous, or semisolid substance.


Anti-GM1 IgM antibody positivity

description: The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against GM1.


bone Paget disease

description: A disease of bone that initially results in the excessive resorption of bone (by osteoclasts) followed by the replacement of normal bone marrow with vascular and fibrous tissue.


meningioma

description: A generally slow growing tumor attached to the dura mater. It is composed of neoplastic meningothelial (arachnoidal) cells. It typically occurs in adults, often women and it has a wide range of histopathological appearances. Of the various subtypes, meningothelial, fibrous and transitional meningiomas are the most common. Most meningiomas are WHO grade I tumors, and some are WHO grade II or III tumors. Most subtypes share a common clinical behavior, although some subtypes are more likely to recur and follow a more aggressive clinical course. (Adapted from WHO)


name: Intermediate atrioventricular canal defect

description: A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and inlet ventricular defect. There is one valve annulus and two valve orifices.


Perinuclear cardiomyocyte vacuolization

description: Formation of vacuoles, i.e., membrane-bound organelles, in the portion of the cytoplasm near the nucleus within myocytes of the heart.


Abnormality of the biliary system

description: An abnormality of the biliary system.


name: Tetralogy of Fallot with pulmonary atresia

description: An extreme form of tetralogy of Fallot characterized by absence of flow from the right ventricle to the pulmonary arteries.


restless legs syndrome

description: A condition that occurs while resting or lying in bed; it is characterized by an irresistible urgency to move the legs to obtain relief from a strange and uncomfortable sensation in the legs.


pituitary hypoplasia

description: Incomplete development of the pituitary gland.


carcinoid tumor

description: A slow growing neuroendocrine tumor, composed of uniform, round, or polygonal cells having monotonous, centrally located nuclei and small nucleoli, infrequent mitoses, and no necrosis. The tumor may show a variety of patterns, such as solid, trabecular, and acinar. Electron microscopy shows small secretory granules. Immunohistochemical studies reveal NSE, as well as chromogranin immunoreactivity. Malignant histology (cellular pleomorphism, hyperchromatic nuclei, prominent nucleoli, necrosis, and mitoses) can occasionally be seen. Such cases may have an aggressive clinical course. Gastrointestinal tract and lung are common sites of involvement.


IgE responsiveness, atopic

description: Immediate hypersensitivity reaction - type I reaction, involves immunoglobulin E (IgE)-mediated release of chemical mediators from mast cells and basophils. Th2 cells produce IL-4 and IL-13, which then act on B cells to promote the production of antigen-specific IgE. Reexposure to the antigen can then result in the antigen binding to and cross-linking the bound IgE antibodies on the mast cells and basophils. This causes the release of preformed mediators (histamine, tryptase, tryptase, chemotactic factors), newly synthesized mediators (leukotrienes, prostaglandin, thromboxane, platelet-activating factor, adenosine, bradykinin), and cytokines from these cells that results in structural and functional changes to the affected tissue.


name: Bilateral tonic-clonic seizure on awakening

description: Bilateral tonic-clonic seizure of either generalized or focal onset occurring on or soon after wakening (typically within 90 minutes of waking, regardless of the time of day).


diabetes insipidus

description: A disorder characterized by excretion of large amounts of urine, accompanied by excessive thirst. Causes include deficiency of antidiuretic hormone or failure of the kidneys to respond to antidiuretic hormone. It may also be drug-related.


Abnormality of the immune system

description: An abnormality of the immune system.


Abnormal gallbladder morphology

description: A structural anomaly of the gallbladder.


Neoplasm of the anterior pituitary

description: A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland.


vaginal discharge

description: Normal or abnormal secretions from the vagina. Mucus produced by the cervical glands is discharged from the vagina naturally, especially during the childbearing years. Causes of abnormal vaginal discharge include infectious agents (e.g., Neisseria gonorrhea, Chlamydia trachomatis, Trichomonas, and Candida albicans), the presence of foreign bodies, and cervical or vaginal cancer.


Delayed gross motor development

description: A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.


Isaac syndrome

description: Isaac's syndrome is an immune-mediated peripheral motor neuron disorder characterized by continuous muscle fiber activity at rest resulting in muscle stiffness, cramps, myokymia, and pseudomyotonia.


name: Partial diaphragmatic absence of pericardium

description: Lack of a part of the pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart.


renal fibrosis

description: A final common manifestation of a wide variety of chronic kidney diseases characterized by glomerulosclerosis and tubulointerstitial fibrosis.


Pulmonary hemorrhage

description: Pulmonary hemorrhage is a bleeding within the lungs. Older children and adults may spit blood or bloody sputum. Neonates, infants and young children usually do not spit up blood. Anemia, pulmonary infiltrates, increasingling bloody return on BAL and the presence of hemosiderin-laden macrophages in broncho-alveolar lavage (BAL) fluid or lung biopsy can diagnose lung bleeding. Alveolar macrophages contain phagocytosed red blood cells and stain positive for hemosiderin, a product of hemoglobin degradation, after about 48-72 hours following pulmonary hemorraghe. Previous or recurrent bleeding can thus be distinguished from fresh events. A differentiation into local or diffuse is of importance. Also differentiate if pulmonary hemorrhage is due to a primary lung disorder or a manifestation of a systemic disease.


name: Anti-voltage-gated potassium channel antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against a voltage-gated potassium channel.


Hernia

description: The protrusion of part of an organ or fibroadipose tissue through an abnormal opening.


Oligomenorrhea

description: Infrequent menses (less than 6 per year or more than 35 days between cycles).


overactive bladder

description: Symptom of overactive detrusor muscle of the urinary bladder that contracts with abnormally high frequency and urgency. Overactive bladder is characterized by the frequent feeling of needing to urinate during the day, during the night, or both. urinary incontinence may or may not be present.


description: The presence of autoantibodies in the blood circulation that react against myeloperoxidase.


Cardiac hemangioma

description: Abnormal proliferation of blood vessels within the cardiac cavities attached to the endocardium.


name: Focal impaired awareness sensory seizure with vestibular features

description: A focal sensory seizure with vestibular features in which awareness is partially or fully impaired at some point during the seizure.


Horseshoe lung

description: A horseshoe lung is an uncommon congenital abnormality caused by the partial fusion of the bases of both lungs behind the pericardial sac.


name: Focal cognitive seizure with dyslexia/alexia

description: A focal cognitive seizure characterized by dyslexia / alexia as the initial semiological manifestation.


Bilateral apical pulmonary fibrosis

description: A reticular pattern of linear or lineonodular densities in apical portions of both the right and left lungs seen initially on high-resolution computed tomography and in case of progression also on standard chest x-ray.


Myoclonic status epilepticus with coma

description: A type of myoclonic status epilepticus in the presence of coma.


Anti-LAD-1 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against LAD-1, which is the soluble 120 kDa ectodomain of BP180.


ariboflavinosis

description: A dietary deficiency of riboflavin causing a syndrome chiefly marked by cheilitis, angular stomatitis, glossitis associated with a purplish red or magenta-colored tongue that may show fissures, corneal vascularization, dyssebacia, and anemia. (Dorland, 27th ed)


brachydactyly type A2

description: Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger.


histiocytoid cardiomyopathy

description: Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterized by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium.


metaphyseal chondrodysplasia

description: An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae.


Impaired glucose tolerance

description: An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose.


1-4 toe syndactyly

description: Syndactyly with fusion of toes one to four.


name: transient hypogammaglobulinemia of infancy

description: A rare, primary humoral immunodeficiency of childhood characterized by decreasing serum levels of immunoglobulin G (IgG) as maternal antibodies clear the circulation while serum levels of immunoglobulin A and immunoglobulin M remain normal or are slightly decreased. Diagnosis may be suspected after the age of six months when a child's own synthesis of IgG should accelerate but it must be confirmed retrospectively after normalization of all serum immunoglobulin levels is seen by ages 2-6. This disorder may be caused by inadequate activation of progenitor B cells, defective class-switching or may even represent a maturational variant. Typically, a normal response to protein antigens is found while there is a notably diminished response to viral and bacterial polysaccharide antigens. Clinical presentation may include recurrent infections especially those of the respiratory tract. Despite increased susceptibility to infection in childhood, this disorder is self-limited with minimal implications for a normal life span.


acidosis disorder

description: An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic.


hyperemesis gravidarum

description: Severe, intractable vomiting during pregnancy (usually the first trimester) accompanied by dehydration, weight loss, and electrolyte imbalances.


Pleural effusion

description: The presence of an excessive amount of fluid in the pleural cavity.


Thickened aortic valve cusp

description: An abnormally increased thickness of a leaflet of the aortic valve.


Adenomatous colonic polyposis

description: Presence of multiple adenomatous polyps in the colon.


Anti-Th/To antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Th/To.


Focal behavior arrest seizure

description: A type of focal non-motor seizure characterized by an arrest or pause of activities, freezing, or immobilization as the predominant semiological feature throughout the seizure.


cutis laxa

description: Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity.


Folie à deux

description: Delusional beliefs are transmitted from one individual to another.


Rhabdomyolysis

description: Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.


rhombencephalosynapsis

description: Rhombencephalosynapsis (RS) is a rare malformation of the cerebellum characterized by the association of agenesis (total or partial) of the vermis and fusion of the cerebellar hemispheres.


Left ventricular aneurysm

description: A severely scarred portion of infarcted ventricular myocardium that does not contract normally but instead bulges outward while the rest of the ventricle contracts during systole.


cystathioninuria

description: Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases.


Supraventricular tachycardia

description: Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles.


Abnormal left ventricle morphology

description: Any structural abnormality of the left ventricle of the heart.


name: Neonatal electro-clinical seizure with behavior arrest

description: Neonatal electro-clinical non-motor seizure with behavior arrest is a type of neonatal electro-clinical seizure characterized by an arrest of activities, freezing, immobilization, with or without apnea and/or other autonomic manifestations.


macroglossia

description: The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992)


seborrheic dermatitis

description: A chronic, inflammatory skin disorder that affects the scalp, central face and skin folds; it is characterized by scaling and itching.


congenital radioulnar synostosis

description: Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living.


varicocele

description: A condition characterized by the dilated tortuous veins of the spermatic cord with a marked left-sided predominance. Adverse effect on male fertility occurs when varicocele leads to an increased scrotal (and testicular) temperature and reduced testicular volume.


creatine phosphokinase, elevated serum

description: A laboratory test result which indicates increased levels of creatine phosphokinase in a biological specimen.


osteomalacia

description: A metabolic bone disease that results from either a deficiency in vitamin D, or an abnormality in the metabolism of vitamin D, or a deficiency of calcium in the diet. The most common symptoms are bone pain and muscle weakness. When it occurs in children it is commonly referred to as rickets. (Diagnostic Surgical Pathology, 3rd ed.) --2003


Xanthine nephrolithiasis

description: The presence of xanthine-containing calculi (stones) in the kidneys.


proximal renal tubular acidosis

description: Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis.


Bilateral ductus arteriosus

description: The presence of both a left and a right ductus arteriosus.


pellagra

description: Pellagra is a nutritional disorder caused by a deficiency in niacin (vitamin B3) or its precursor (tryptophan) that is mainly observed in Asia and Africa where it is generally due to poor nutrition. It is characterized by dermatitis (symmetrical photodistributed erythema that may be accompanied by vesicles and bullae, and that develops into hyperkeratotic and hyperpigmented skin), gastrointestinal symptoms (diarrhea), and neuropsychiatric disorders (dementia). It can be life-threatening without a correct management.


Abnormal cell morphology

description: Any anomaly of cell structure.


autonomic nervous system neoplasm

description: Benign and malignant neoplasms which arise from or directly involve the central or peripheral elements of the autonomic nervous system.


name: Abnormal periventricular white matter morphology

description: A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles.


trimethylaminuria

description: A rare inborn error of metabolism characterized by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odor in affected individuals.


otitis externa

description: Inflammation of the anatomical structures of the outer ear and ear canal secondary to an infectious process. Bacterial etiology is most common, but fungal infection is also possible. Symptoms include erythema, edema, and pain.


Anti-CARP VIII antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Carbonic anhydrase-related protein VIII (CARPVIII).


angiomyolipoma

description: A neoplasm with perivascular epithelioid cell differentiation often associated with tuberous sclerosis. It is characterized by a mixture of epithelioid cells, smooth muscle, vessels, and mature adipose tissue. The kidney is the most common site of involvement. Other sites of involvement include the liver, lung, lymph nodes, and retroperitoneum. The vast majority of cases follow a benign clinical course. However, cases of metastatic angiomyolipomas with sarcomatoid features have been described.


Abnormal esophagus morphology

description: A structural abnormality of the esophagus.


Mammary duct ectasia

description: A non-proliferative inflammatory disorder of the large duct (milk duct) of the breast; as such, it affects nipple and areola complex. The condition is characterized by focal dilatation of the lactiferous duct system is due to endoluminal changes, as well as the loss of duct wall elastin, leading to abnormally dilated and tortuous lactiferous ducts with associated periductal inflammation and fibrosis. Mammary duct ectasia may present with nipple discharge or palpable mass.


Chronic lung disease

description: According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities.


spina bifida occulta

description: The mildest form of spina bifida, characterized by any of several neural tube defects which may go undetected until an x-ray is performed. Treatment is symptomatic.


vasculitis

description: Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis), medium-sized vessels (medium-vessel vasculitis e.g. polyarteritis nodosa and Kawasaki disease), or small-sized vessels (small-vessel vasculitis, e.g. granulomatosis with polyangiitis, microscopic polyangiitis, immunoglobulin A vasculitis, and cutaneous leukocytoclastic angiitis). Vasculitis occurs at any age, may be acute or chronic, and manifests with general symptoms such as fever, weight loss and fatigue, as well as more specific clinical signs depending on the type of vessels and organs affected. The degree of severity is variable, ranging from life or sight threatening disease (e.g. Behcet disease) to relatively minor skin disease.


superior vena cava syndrome

description: Obstruction of the blood flow in the superior vena cava caused by a malignant neoplasm, thrombosis, or aneurysm. It is a medical emergency requiring immediate treatment. Signs and symptoms include swelling and cyanosis of the face, neck, and upper arms, cough, orthopnea, and headache.


Inlet ventricular septal defect

description: A ventricular septal defect that involves the inlet of the right ventricular septum immediately inferior to the AV valve apparatus.


name: Focal aware perseverative automatism seizure

description: A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset and during which awareness is fully retained throughout.


kidney sarcoma

description: A sarcoma involving a kidney.


name: Focal impaired awareness cognitive seizure with dyslexia/alexia

description: A focal cognitive seizure with dyslexia / alexia characterized by impairment of awareness at some point during the seizure.


name: Abnormal connection of the cardiac segments

description: A deviance in the normal connections between two cardiac segements.


Multiple lineage myelodysplasia

description: Myelodysplasia with dysplastic changes in two or more of the myeloid lineages: erythroid, granulocytic, megakaryocytic.


male reproductive system neoplasm

description: A benign, borderline, or malignant neoplasm that affects the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign testicular Sertoli cell tumor, prostatic intraepithelial neoplasia, prostate carcinoma, testicular seminoma, and testicular embryonal carcinoma.


Transudative pleural effusion

description: A type of pleural effusion with a transudate (extravascular fluid with low protein content and a low specific gravity). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH.


renal hypoplasia

description: Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia, respectively) have a deficit in the number of nephrons and may be small. Oligomeganephronia represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied.


name: atrial septal defect, sinus venosus type

description: An interatrial communication caused by a deficiency of the common wall between the superior vena cava (SVC) and the right-sided pulmonary veins. SVASD is commonly associated with anomalous pulmonary venous connection (APVC) of some or all of the pulmonary veins, which produces additional left-to-right shunting.


name: isolated congenital growth hormone deficiency

description: Insufficient production of growth hormone.


Acute sinusitis

description: An acute form of sinusitis.


Right atrial isomerism

description: Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest.


transposition of the great arteries

description: A congenital cardiac defect in which two heart vessels are reversed (transposed).


tracheomalacia

description: Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months.


tympanic paraganglioma

description: A benign or malignant middle ear paraganglioma arising from paraganglia around the tympanum. Signs and symptoms include a mass behind the tympanum, tinnitus, and conductive hearing loss.


Myocardial bridging

description: A congenital variant of a coronary artery in which a portion of an epicardial coronary artery (most frequently the middle segment of the left anterior descending artery) takes an intramuscular course.


scimitar syndrome

description: Scimitar syndrome is characterized by a combination of cardiopulmonary anomalies including partial anomalous pulmonary venous return connection of the right lung to the inferior caval vein leading to the creation of a left-to-right shunt.


Left atrial enlargement

description: Increase in size of the left atrium.


Chilblains

description: Chilblains, also called perniosis, are an inflammatory skin condition related to an abnormal vascular response to the cold. We are unaware of a reliable estimate of incidence. It typically presents as tender, pruritic red or bluish lesions located symmetrically on the dorsal aspect of the fingers, toes, ears and nose. Less commonly, reports describe involvement of the thighs and buttocks. The lesions present hours after exposure to cold and usually resolve spontaneously in one to three weeks.


Neuroepithelial cyst

description: A benign epithelial-lined cystic lesion that can occur anywhere in the neuraxis. Neuroepithelial cysts are ependymal or epithelial lined fluid collections of unknown etiology within the central nervous system parenchyma with no obvious ventricular or subarachnoid connection. Most cysts are asymptomatic, however, some present with seizures, mass effect, or rarely with movement disorders. On imaging, they present as CSF-like parenchymal cysts with smooth, rounded borders and minimal or no surrounding signal intensity abnormality.


pili torti

description: Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome.


perineural cyst

description: Perineural (or Tarlov) cysts are cerebrospinal fluid-filled nerve root cysts most commonly found at the sacral level of the spine, although they can be found in any section of the spine, which can cause progressively painful radiculopathy.


Architectural distortion of the lung

description: Architectural distortion is characterized by abnormal displacement of bronchi, vessels, fissures, or septa caused by diffuse or localized lung disease, particularly interstitial fibrosis. This is visible in lung biopsy and CT scans in a distorted appearance and is usually associated with pulmonary fibrosis and accompanied by volume loss.


Abnormality of the genital system

description: An abnormality of the genital system.


Abnormal alveolar macrophage morphology

description: Alveolar macrophages usually make up the majority of cells in the bronchoalveolar space (over 80%). The may contain intracellular material depending on underlying diseases or due to exposition to inhaled particles.


apnea of prematurity

description: Apnea of prematurity is a developmental disorder affecting premature infants, likely secondary to an immaturity of respiratory control resulting in idiopathic pauses in breathing often associated with reduced heart rate and arterial blood oxygen levels. It may be exacerbated by concurrent neonatal diseases.


Granulovacuolar degeneration

description: Electron-dense granules within double membrane-bound cytoplasmic vacuoles.


exanthem

description: Any change in the skin which affects its appearance or texture. A rash may be localized to one part of the body, or affect all the skin. Rashes may cause the skin to change color, itch, become warm, bumpy, dry, cracked or blistered, swell and may be painful.


brain stem glioma

description: A neuroglial tumor that arises from the brain stem.


Malabsorption

description: Impaired ability to absorb one or more nutrients from the intestine.


glossitis

description: Inflammation of the tongue.


nail disorder

description: A disease involving the nail.


Gangliocytoma

description: A low-grade central nervous system tumor composed of dysplastic ganglion cells, usually presenting in children or young adults and located in the cerebral hemispheres.


Inguinal hernia

description: Protrusion of the contents of the abdominal cavity through the inguinal canal.


Neoplasm of the nose

description: Tumor (An abnormal mass of tissue resulting from abnormally dividing cells) of the nasal cavity.


Autonomic status epilepticus

description: Autonomic status epilepticus is a type of non-convulsive status epilepticus without coma with prominent autonomic features regardless of whether it is electrographically generalized or focal.


Enanthema

description: A sudden eruption (rash) of the surface of a mucous membrane of the mouth or pharynx.


pulmonary arterial hypertension

description: Pulmonary arterial hypertension (PAH) is a group of diseases characterized by mean pulmonary artery pressure >20 mmHg and elevated pulmonary arterial resistance leading to right heart failure. PAH is progressive and potentially fatal. PAH may be idiopathic and/ or familial, have overt features of venous/capillary involvement (pulmonary veno-occlusive disease, PVOD/pulmonary capillary hemangiomatosis, PCH), induced by drug or toxin (drug-or toxin-induced PAH), or associated with other diseases like congenital heart disease, connective tissue disease, HIV, schistosomiasis, portal hypertension (PAH associated with other disease).


Progressive leukoencephalopathy

description: Leukoencephalopathy that gets more severe with time.


punctate palmoplantar keratoderma

description: A palmoplantar keratosis characterized by keratoses with a "raindrop" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution.


ear exostoses

description: A benign bony growth projecting outward from a bone surface within the external auditory canal.


Micrognathia

description: Developmental hypoplasia of the mandible.


nevus anemicus

description: A capillary vascular anomaly that is characterized by hypopigmented macules.


Restrictive ventricular septal defect

description: Any ventricular septal defect (VSD) that is small enough to restrict flow across it such that a pressure gradient exists between the two sides of the VSD.


epidermoid cysts

description: The most common type of cutaneous cyst. It results from the proliferation of epidermal cells in a circumscribed space within the dermis. It is usually asymptomatic and presents as a firm, round nodule.


Subungual fibromas

description: The presence of fibromata beneath finger or toenails.


name: tubulointerstitial nephritis and uveitis syndrome

description: An autoimmune disorder comprising tubulointerstitial nephritis and uveitis.


Focal emotional seizure with crying

description: Focal emotional seizure with crying (dacrystic) is characterized by the presence of stereotyped crying, this may be accompanied by lacrimation, sad facial expression and sobbing. The subjective emotion of sadness may or may not be present.


visceral heterotaxy

description: A rare, genetic disorder in which symptoms are generally secondary to the abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include cardiac defects, intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton.


premature ejaculation

description: A disorder characterized by persistent or recurrent ejaculation before or after penetration and before the person wishes it.


name: Single ventricle of indeterminate morphology


pituitary gland disorder

description: A disease involving the pituitary gland.


name: Perivascular pre-capillary pulmonary artery inflammation

description: Inflammatory cell infiltration surrounding precapillary pulmonary arteries (arterioles; 20-70 micrometer).


cold urticaria

description: Cold urticaria is a condition that affects the skin. Signs and symptoms generally include reddish, itchy welts (hives) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). This rash is usually apparent within 2-5 minutes after exposure and can last for 1-2 hours. The exact cause of cold urticaria is poorly understood in most cases. Rarely, it may be associated with an underlying blood condition or infectious disease. Treatment generally consists of patient education, avoiding exposures that may trigger a reaction, and/or medications.


unilateral polymicrogyria

description: Unilateral polymicrogyria is a cerebral cortical malformation characterized by unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria.


patella aplasia/hypoplasia

description: Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date.