empyema

description: An accumulation of pus in a body cavity, usually the pleural space.


age-related clonal hematopoiesis

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

description: A precancerous condition characterized by the gradual, clonal expansion of hematopoietic stem and progenitor cells carrying specific, disruptive, and recurrent genetic variants, in individuals without clear diagnosis of hematological malignancies. It is associated with an increased risk of developing hematologic cancers.


septicemic plague

description: A plague in which the bacteria have entered the bloodstream.


skull base meningioma

description: A meningioma that arises from the skull base.


mosaic trisomy 4

description: Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorally rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated.


primary organ-specific lymphoma

description: A header term comprising lymphomas classified based on anatomic location.


Nidovirales infectious disease

description: Infections with viruses of the order nidovirales. The concept includes arterivirus infections and coronaviridae infections.


epithelioid cell nevus

description: A nevus characterized by the presence of large epithelioid melanocytes.


immunodeficiency 92

description: An autosomal recessive primary immunodeficiency characterized by the onset of recurrent infections in infancy or early childhood. Infectious agents are broad, including bacterial, viral, fungal, and parasitic, including Cryptosporidium and Mycobacteria. Patient lymphocytes show defects in both T- and B-cell proliferation, cytokine secretion, and overall function, and there is also evidence of dysfunction of NK, certain antigen-presenting cells, and myeloid subsets. Hematopoietic stem cell transplantation may be curative.


chronic frontal sinusitis

description: Inflammation of the frontal sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties.


benign neoplasm of iris

description: A benign neoplasm that involves the iris.


Clostridium infectious disease

description: Infections with bacteria of the genus clostridium.


name: sensorineural hearing loss-early graying-essential tremor syndrome

description: Sensorineural hearing loss-early graying-essential tremor syndrome is characterized by the combination of sensorineural hearing loss, early graying of scalp hair and adult onset essential tremor.


name: rhizomelic dysplasia, scoliosis, and retinitis pigmentosa


canine glioma

description: A brain or spinal cord tumor arising from glial cells that occurs in dogs.


RPGR-related retinopathy

description: A retinopathy caused by a variant in the X-linked gene, RPGR.


name: congenital patent ductus arteriosus aneurysm

description: Congenital patent ductus arteriosus aneurysm is a rare, congenital, arterial duct anomaly characterized by a saccular dilatation of the ductus arteriosus. It is often asymptomatic or presents shortly after birth with respiratory distress, stridor, cyanosis and/or weak cry. Complications, such as rupture, thromboembolism, infection, airway erosion and/or compression of the adjacent thoracic structures, can develop. Spontaneous resolution has been reported.


metagonimiasis

description: An infection that is most commonly caused by the intestinal fluke Metagonimus yokogawai, which is most commonly found in the Far East, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection.


name: joint contractures, osteochondromas, and B-cell lymphoma


name: developmental delay, behavioral abnormalities, and neuropsychiatric disorders


benign neoplasm of penis

description: A benign neoplasm that involves the penis.


name: inborn disorder of the gamma-glutamyl cycle


name: polycystic kidney, cataract, and congenital blindness


name: DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion


disorder of GPI anchor biosynthesis

description: A disease that has its basis in the disruption of GPI anchor biosynthetic process.


name: mitochondrial complex 1 deficiency, nuclear type 33


focal epithelial hyperplasia

description: Hyperplasia characterized by the presence of a focal proliferation of epithelial cells.


name: ataxia - deafness - intellectual disability syndrome

description: This syndrome is characterized by progressive ataxia beginning during childhood, deafness and intellectual deficit.


name: rapidly progressive primary central nervous system vasculitis

description: A subset of primary central nervous system vasculitis where disease is rapidly progressive after onset that is characterized by bilateral, multiple, large cerebral vessel lesions and multiple CNS infarctions.


name: Sjogren-Larsson-like ichthyosis without CNS or eye involvement


trachea sarcoma

description: A rare malignant soft tissue neoplasm that arises from the trachea.


joint laxity, familial

description: A type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility often complicated by dislocation of major joints, particularly the shoulder but in some cases the kneecap. Congenital hip dislocation has also been frequently reported. The syndrome has been described in several families. It is transmitted as an autosomal dominant trait, with high penetrance.


retinal melanoma

description: A melanoma affecting the retinal portion of the eye. --2003


name: dyskeratosis congenita, autosomal recessive 2

description: A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA2 on chromosome 5q35.3.


name: c11orf73-related autosomal recessive hypomyelinating leukodystrophy


acquired epidermolysis bullosa

description: Epidermolysis bullosa acquisita (EBA) is a subepidermal bullous dermatosis of autoimmune origin that was named as a result of its resemblance to hereditary forms of epidermolysis bullosa (HEB), most notably dystrophic HEB.


name: neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures


name: mesial temporal lobe epilepsy with hippocampal sclerosis

description: Mesial temporal lobe epilepsy with hippocampal sclerosis is a rare epilepsy syndrome defined by seizures originating in limbic areas of the mesial temporal lobe, particularly in the hippocampus, amygdala, and in the parahippocampal gyrus and its connections, and hippocampal sclerosis, usually unilateral or asymmetric. It is frequently associated with an initial precipitating event, such as febrile seizures, hypoxia, intracranial infection or head trauma, most often occurring in the first five years of life, followed by a latent period without seizures. Typical seizures consist of a characteristic aura that is frequently a rising epigastric sensation associated with emotional disturbances, illusions, and autonomic symptoms (widened pupils, palpitations), progressive impairment of consciousness, oro-alimentary automatisms (lip smacking, chewing, licking, tooth grinding), behavioral arrest, head deviation, dystonic postures, hand and verbal automatisms. Seizures are followed by postictal dysfunction. Initially, seizures are easily controlled with antiepileptic drugs, later they frequently become refractory and associated with progressive behavioral changes and memory deficits.


chromosome 22 disorder

description: Chromosomal disorder in which chromosome 22 is affected.


heart-hand syndrome type 3

description: Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle.


uterine carcinosarcoma

description: A usually aggressive malignant neoplasm arising from the uterine corpus and less often the cervix. It is characterized by the presence of two components: a malignant epithelial component and a sarcomatous component. In the uterine corpus the epithelial component is usually glandular whereas in the cervix is usually non-glandular. Carcinosarcoma of the cervix, although it is aggressive, it may have a better prognosis compared to the uterine corpus carcinosarcoma.


name: hereditary sensory and autonomic neuropathy with deafness and global delay

description: This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay.


name: severe X-linked intellectual disability, Gustavson type

description: Severe X-linked intellectual disability, Gustavson type is characterized by X-linked intellectual disability, microcephaly, optical atrophy with impaired vision or blindness, a severe hearing defect, facial dysmorphology, spasticity, epileptic seizures and restricted joint movement. It has been described in seven children from two generations of a Swedish family. All patients died in during early childhood.


respiratory system cancer

description: A malignant neoplasm involving the respiratory system


odontotrichomelic syndrome

description: Odontotrichomelic syndrome is characterized by malformations of all four extremities, hypoplastic nails, ear anomalies, hypotrichosis, abnormal dentition, hyperhidrosis and nasolacrimal duct obstruction. So far, it has been described in less than 10 patients. Transmission is autosomal recessive.


Bosley-Salih-Alorainy syndrome

description: Bosley-Salih-Alorainy syndrome (BSAS) is characterized by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation.


root caries

description: Dental caries involving the tooth root, cementum, or cervical area of the tooth.


nocturnal paroxysmal dystonia

description: A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night.


name: inborn disorder of pentose phosphate metabolism


name: combined pituitary hormone deficiencies, genetic form

description: Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.


name: hypomagnesemia 7, renal, with or without dilated cardiomyopathy


acquired factor X deficiency

description: An bleeding disorder with a decreased antigen and/or activity of factor X (FX) that is acquired. Acquired factor X deficiency is a rare disorder, commonly associated with a preceding viral illness and a circulating FX inhibitor. Although multiple treatment modalities have been described with variable success, in many cases, it is a self-limited condition.


arbovirus fever

description: Arbovirosis are polymorphic diseases caused by arboviruses and are classically characterized by encephalitis and hemorrhage, however, most commonly only aspecific fever is observed.


cauda equina cancer

description: A cancer that involves the cauda equina.


name: endometrioid stromal sarcoma of the vagina

description: A rare sarcoma that arises from the vagina. This category includes low grade endometrioid stromal sarcoma and undifferentiated vaginal sarcoma.


uterine corpus adenosarcoma

description: A primary polypoid malignant neoplasm of the uterine corpus characterized by the presence of a sarcomatous mesenchymal component and a benign epithelial component. Patients usually present with abnormal vaginal bleeding. It is considered a low grade malignant neoplasm and may recur following resection.


eye neoplasm

description: A neoplasm (disease) that involves the eye.


description: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome is a rare genetic neurometabolic disease characterized by severe intellectual disability, spastic quadraparesis, Leber´s congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter), described on magnetic resonance imaging, have been reported. High prenatal α-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination.


mosaic translocation Down syndrome

description: Translocation Down syndrome in which the extra (partial or total) copy of chromosome 21 attached to another chromosome is present in some of the cells of the organism.


name: spinocerebellar atrophy with pupillary paralysis


name: hypodontia/oligodontia with orofacial cleft


name: disorder of mineral absorption and transport


chromosome 9p deletion syndrome

description: Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis.


name: multiple congenital anomalies due to 14q32.2 imprinting defect

description: Multiple congenital anomalies caused by imprinting defects at 14q32.2 include Kagami-Ogata syndrome and Temple syndrome. Kagami-Ogata syndrome is characterized by typical facial features, skeletal abnormalities (including "coat-hanger ribs", and bell-shaped thorax), abdominal wall defects, and developmental delay, and is caused by defects or absence of maternally derived imprinting signals (including paternal UPD14). Temple syndrome is a less specific phenotype including intrauterine and postnatal growth restriction, hypotonia, feeding difficulties in infancy, truncal obesity, and small feet and hands. Temple syndrome is caused by defects or absence of paternally derived imprinting signals (including maternal UPD14).


name: autosomal recessive extra-oral halitosis


name: familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis

description: Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN).


16p12.1p12.3 triplication syndrome

description: 16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers.


sublingual gland neoplasm

description: A neoplasm (disease) that involves the sublingual gland.


malignant testicular germ cell tumor

description: A malignant tumor predominantly affecting young men and often associated with cryptorchidism. Seminoma is the most frequently seen malignant testicular germ cell tumor, followed by embryonal carcinoma and yolk sac tumor.


microtriplication 11q24.1

description: Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophris, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia.


name: CDH1-related diffuse gastric and lobular breast cancer syndrome

description: Germline pathogenic or likely pathogenic variants in the CDH1 gene predispose to hereditary diffuse gastric cancer, a cancer susceptibility syndrome inherited in an autosomal dominant pattern, initially characterized by the increased risk for diffuse gastric cancer (DGC) but subsequently well documented to be associated with lobular breast cancer (LBC) in women.


Orthocoronavirinae infectious disease

description: Infectious disease causes by viruses in the subfamily Orthocoronavirinae (coronaviruses). In humans, coronaviruses cause respiratory tract infections that can be mild, such as some cases of the common cold (among other possible causes, predominantly rhinoviruses), and others that can be lethal, such as SARS, MERS, and COVID-19.


benign neoplasm of lip

description: A benign neoplasm that involves the lip.


name: basal ganglia calcification, idiopathic, 7, autosomal recessive


autoimmune progesterone dermatitis

description: Autoimmune progesterone dermatitis (APD) is primarily characterized by a recurrent skin rash that varies in severity depending on the phase of the menstrual cycle. The rash generally appears during the second half of the cycle when levels of the hormone, progesterone, begin to rise and it subsides shortly after menstruation. Although the exact underlying cause of APD is not well understood, it is thought to involve an abnormal immune reaction (autoimmune response) triggered by a woman's own progesterone. Depending on the severity of the condition, treatment may include topical (applied to the skin) medications, systemic corticosteroids, hormone therapy to suppress the production of progesterone, and/or surgical removal of the ovaries.


name: acute encephalopathy with biphasic seizures and late reduced diffusion

description: Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a rare childhood-onset epilepsy syndrome associated with infection and characterized by a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. Neurological outcomes of AESD vary from normal to mild or severe sequelae including cerebral atrophy, mental retardation, paralysis and epilepsy.


gastrointestinal allergy

description: A allergic disease that involves the digestive tract.


name: neurodevelopmental disorder with cerebellar hypoplasia and spasticity


vasoproliferative tumor of retina

description: Vasoproliferative tumor of the retina is a rare, benign, retinal vascular disease characterized by solitary or multiple, unilateral or bilateral, intra-retinal tumor(s), usually located in the peripheral infero-temporal quadrant, and often associated with sub- and intraretinal exudates, epiretinal membranes, exudative retinal detachment and cystoid macular edema, as well as, occasionally, retinal and vitreous hemorrhage. Patients may present with visual loss, floaters, and/or photopsia. Association with various conditions, such as retinitis pigmentosa, congenital retinal toxoplasmosis, retinopathy of prematurity, or coloboma, has been reported.


cervical carcinosarcoma

description: A mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign or malignant epithelial elements. This category includes adenosarcoma and carcinosarcoma.


germinomatous germ cell tumor

description: A term that refers to germinoma, seminoma, or dysgerminoma.


name: OPA1-related optic atrophy with or without extraocular features

description: Any primary mitochondrial disease in which the cause of the disease is monoallelic or biallelic variants in the OPA1 gene. While optic atrophy is present in most affected cases, OPA1 is a mitochondrial protein and thus features of this disease include abnormal mitochondrial morphology and multiple mitochondrial DNA deletions, and can affect other organ systems and. Extraocular features can include progressive sensorineural hearing impairment, cognitive impairment, peripheral neuropathy, myopathy, ragged-red muscle fibers, and exercise-induced lactic acidemia, while additional ocular features can include progressive visual loss, central scotoma, and color vision abnormalities.


name: congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome


cardioectodermal syndrome

description: Cardioectodermal syndromes are those in which phenotypic manifestations occur in the heart, skin, and/or hair. Variation in the genes of interest may occur in both an autosomal dominant inheritance pattern, or in an autosomal recessive inheritance pattern which may result in an earlier and/or more severe phenotypic presentation.


childhood kidney angiomyolipoma

description: An angiomyolipoma occurring in childhood.


name: acute myeloid leukemia, t(11;19)(q23.3;p13.3)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23.3;p13.3). (A cytogenetic abnormality that refers to the translocation of the long arm (q23.3) of chromosome 11 and the short arm (p13.3) of chromosome 19. It is associated with KMT2A (MLL)/MLLT1 (ENL) fusions and acute myeloid leukemia.)


cutaneous syphilis

description: Cutaneous lesions arising from infection with Treponema pallidum. In the primary stage, 18-21 days following infection, one or more chancres appear. If untreated, the subsequent stages of the disease appear as syphilids. These eruptions are superficial, nondestructive, exanthematic, transient, macular roseolas that may later be maculopapular or papular polymorphous or scaly, pustular, pigmented eruptions.(Arnold, Odom, and James, Andrew's Diseases of the Skin, 8th ed, p409)


congenital aortic valve stenosis

description: Aortic valve stenosis that is present at birth.


benign osteogenic neoplasm

description: A non-metastasizing bone-forming neoplasm. This category includes osteoma, osteoid osteoma, and osteoblastoma.


name: rhabdomyosarcoma with mixed embryonal and alveolar features

description: A rhabdomyosarcoma composed of embryonic and alveolar components. It is characterized by the presence of spindle cells with myoblastic differentiation, a myxoid stroma, and fibrous septa. These tumors were previously considered variants of alveolar rhabdomyosarcoma. The lack of PAX3-FOXO1 fusions in most of these tumors suggests that are biologically and clinically related to embryonal rhabdomyosarcoma.


acquired fructose intolerance

description: Acquired fructose intolerance is a condition in which the body can not properly absorb the sugar, fructose. As a result, affected people may experience gastrointestinal symptoms, such as gas, abdominal pain, bloating and/or diarrhea, depending on the quantity of fructose consumed and the presence of other sugars ingested with it. Gastrointestinal symptoms related to acquired fructose intolerance appear to be more common in people who have an underlying functional bowel disorder such as irritable bowel syndrome. The underlying cause of the condition is poorly understood. It is distinct from the rare, genetic form of fructose intolerance (called hereditary fructose intolerance), which usually develops earlier in life and often affects more than one family member. Acquired fructose intolerance is generally managed with dietary modifications.


name: immunodeficiency 80 with or without congenital cardiomyopathy

description: An autosomal recessive immunologic disorder with variable manifestations. One patient with infantile-onset of chronic cytomegalovirus (CMV) infection associated with severely decreased NK cells has been reported. Another family with 3 affected fetuses showing restrictive cardiomyopathy and hypoplasia of the spleen and thymus has also been reported.


name: intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities


description: Mullerian derivatives-lymphangiectasia-polydactyly syndrome is characterized by prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, postaxial polydactyly and cryptorchidism. Mullerian duct remnants, lymphangiectasis, and renal anomalies are also present. Three cases have been described. A small penis was observed in two of these cases. The syndrome is likely to be an autosomal recessive or X-linked trait. All the reported patients died neonatally of hepatic failure.


tuberculous oophoritis

description: An urogenital tuberculosis involving a pathogenic inflammatory response in the ovary.


2q33.1 microdeletion syndrome

description: 2q33.1 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features include high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioral problems (e.g. hyperactivity, chaotic/repetitive behavior, touch avoidance) are also associated.


extratemporal epilepsy

description: An epilepsy syndrome that is located in an area of the brain other than the temporal lobe.


name: partial deletion of the long arm of chromosome 11

description: A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 11.


focal, segmental or multifocal dystonia

description: A rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions.


benign metastasizing leiomyoma

description: A rare disorder that affects women with a history of uterine leiomyoma, which is found to metastasise within extrauterine sites.The disease develops as a proliferation of multiple nodules composed of smooth muscle cells.The most frequent site of metastasis is the lungs, although other areas may also be affected as well, including some atypical locations, e.g. the heart or spinal cord.


name: melanoma, cutaneous malignant, susceptibility to, 3


distal monosomy 14q

description: Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and oftalmological anomalies were also reported.


name: acquired thrombotic thrombocytopenic purpura

description: Acquired thrombotic thrombocytopenic purpura is the non-hereditary form of thrombotic thrombocytopenic purpura (TTP), characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.


lymphangiosarcoma, dog

description: Lymphangiosarcoma that occurs in dog.


vaginal adenosarcoma

description: A malignant mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant mesenchymal component and a benign or atypical mullerian-type epithelial component.


Bartholin's gland disease

description: A female reproductive system disease that is located in Bartholin's gland.


name: encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts


familial antiphospholipid syndrome

description: Autosomal dominant form of antiphospholipid syndrome.


name: palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome


description: Duane anomaly-myopathy-scoliosis syndrome is characterized by the association of bilateral Duane anomaly type 3, severe scoliosis of early onset, congenital myopathy with hypotonia without muscular weakness, delayed motor development, and short stature. It has been described in one pair of sibs. The Duane type 3 anomaly consists of eye abduction and adduction palsy, globe retraction and narrowing of the palpebral fissure. Muscular biopsy shows aspecific myopathy. Intellectual development is normal. The syndrome is most likely inherited in an autosomal recessive manner. It differs from the Crisfield-Dretakis-Sharpe syndrome, in which short stature and muscular features are absent. Surgery of the scoliosis is necessary. Functional prognosis depends on the severity of the visual handicap.


symbrachydactyly of hands and feet

description: A rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails.


name: non-syndromic unicoronal and sagittal craniosynostosis


name: neonatal period electroclinical syndrome

description: An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age.


retinitis pigmentosa Y-linked

description: Y-linked form of retinitis pigmentosa.


GPR179-related retinopathy

description: An inherited retinopathy caused by bi-allelic variants in the GPR179 gene.


neurofibromatosis type 1

description: A clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.


name: residual stage corticosteroid-induced glaucoma


name: dysplastic cortical hyperostosis, Kozlowski-Tsuruta type

description: An extremely rare primary bone dysplasia with increased bone density characterized by lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae, and coronal clefts in vertebral bodies.


name: autosomal dominant intermediate Charcot-Marie-Tooth disease

description: Autosomal dominant form of intermediate Charcot-Marie-Tooth disease.


renal nutcracker syndrome

description: A rare, syndromic renal disease characterized by the entrapment of left renal vein (LRV) between the superior mesenteric artery (SMA) and the abdominal aorta, resulting in increased luminal pressure, renal hilar varices, hematuria and, at the microscopic level, rupture of thin-walled veins into the collecting system in renal fornices.


name: developmental and epileptic encephalopathy 101


spermatogenic failure

description: A male infertility characterized by dirsuption of the process of sperm development from diploid cells into mature haploid spermatozoa.


chronic venous insufficiency

description: Chronic form of venous insufficiency (disease).


name: ectodermal dysplasia with natal teeth, Turnpenny type

description: Ectodermal dysplasia with natal teeth, Turnpenny type is characterized by hypo- or oligodontia and acanthosis nigricans. It has been described in four generations of one family. Onset generally occurs during adolescence. Some patients were born with multiple teeth. Hair anomalies (sparse body and scalp hair) were also reported. Inheritance is autosomal dominant.


name: hydrocephalus, congenital communicating, 1


nerve plexus disorder

description: A disease that involves the nerve plexus.


acute salpingo-oophoritis

description: Acute form of salpingo-oophoritis.


eccrine sweat gland cancer

description: An cancer with eccrine differentiation arising from the sweat glands.B


retinitis pigmentosa 32

description: A retinitis pigmentosa that has material basis in variation in the chromosome region 1p21.3-p13.3.


angiomyomatous hamartoma

description: An uncommon benign proliferation of smooth muscle, blood vessels, collagenous stroma, and adipocytes, most commonly affecting inguinal lymph node.


cerebral sinovenous thrombosis

description: A rare but serious cerebrovascular disorder involving thrombosis of the cerebral venous system. It affects children from the newborn period through childhood and adolescence. In childhood CSVT, acute infections of the head and neck such as mastoiditis are most common, followed by chronic underlying diseases such as nephrotic syndrome, cancer, and inflammatory bowel disease. Signs and symptoms are also age related. Seizures and altered mental status are the commonest manifestations in newborns. Headache, vomiting, and lethargy, sometimes with 6th nerve palsy, are the most common symptoms in children and adolescents.


name: developmental and epileptic encephalopathy, 78


advanced heart failure

description: Patients with advanced heart failure have severe limitations, experiences symptoms even while at rest and are mostly bedbound patients.


T-B- severe combined immunodeficiency

description: T-B- severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types.


name: neurodevelopmental disorder with impaired speech and hyperkinetic movements


optic tract meningioma

description: A meningioma that affects the visual pathway.


name: congenital disorder of glycosylation, type IIw


name: hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency


acquired Creutzfeldt-Jakob disease

description: An instance of Creutzfeldt Jacob disease that is acquired during the lifetime of the individual.


phlebitis

description: Inflammation of a vein.


ischemic neuropathy

description: Neuropathy that is caused by inadequate blood supply.


CNS demyelinating autoimmune disease

description: Conditions characterized by loss or dysfunction of myelin (see myelin sheath) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or oligodendroglia associated autoantigens.


name: acute myeloid leukemia, t(1;22)(p13;q13)

description: An acute myeloid leukemia typically showing megakaryocytic maturation and associated with t(1;22)(p13;q13), resulting in the expression of RBM15-MKL1 fusion protein.


name: NR2F2 related multiple congenital anomalies/dysmorphic syndrome

description: A heart disease that is present at birth. Representative examples include atrial, ventricular, and atrioventricular septal defects, double-outlet right ventricle, tetralogy of Fallot, hypoplastic left heart syndrome, aortic stenosis, and coarctation of the aorta.


ataxic cerebral palsy

description: A form of cerebral palsy caused by damage to cerebellar structures.


name: cervical intraepithelial neoplasia grade 2/3

description: A neoplastic process in the cervix characterized by morphologic features of both moderate and severe intraepithelial neoplasia.


name: congenitally uncorrected transposition of the great arteries with cardiac malformation


name: autosomal dominant nonsyndromic hearing loss 18

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 3q22.


name: PLG-related hereditary angioedema with normal C1inh


discharging ear

description: Discharge or drainage of fluid from the ear.


name: right superior vena cava connecting to left-sided atrium

description: Right superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by the right SVC passing medially and dorsally to the aortic root and draining into the left atrium. Patients usually present a right-to-left systemic venous blood shunt which may manifest with arterial hypoxemia, cyanosis, exercise dyspnea, clubbing of the fingers, palpitations, murmurs and/or potentially fatal brain abscess. Association with other cardiac anomalies has been reported.


name: craniosynostosis intellectual disability heart defects


childhood neoplasm

description: A benign or malignant neoplasm arising during childhood.


brain neoplasm

description: A neoplasm (disease) that involves the brain.


orbital cancer

description: A primary or metastatic malignant neoplasm involving the orbit.


benign deep fibrous histiocytoma

description: A rare, well-circumscribed, pseudo-encapsulated benign fibrous histiocytoma that arises entirely within the subcutaneous tissue or deep soft tissue. It usually affects the extremities or the head and neck region. It recurs locally in a minority of cases.


benign neoplasm of submandibular gland

description: A benign neoplasm that involves the submandibular gland.


ring chromosome 15

description: Ring chromosome 15 is a chromosome abnormality that affects growth, learning, and speech. People with ring chromosome 15 often have growth delays before and after birth, resulting in short stature; varying degrees of intellectual disability ; low muscle tone (hypotonia); craniofacial malformations; and limb abnormalities. Other symptoms might include congenital heart defects, kidney problems, congenital dislocation of the hips, and cafe-au-lait spots. Ring chromosome 15 is caused by an abnormal chromosome known as a ring chromosome 15 or r(15). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and the broken ends fuse together. The features of ring chromosome 15 appear to result from the loss (deletion) of genetic material from the long (q) arm of chromosome 15. Ring chromosome 15 is usually caused by spontaneous (de novo) errors very early in embryonic development. In rare cases, it is passed through families, either from a parent who also has a ring chromosome 15, or from a parent who has a balanced translocation. Treatment for ring chromosome 15 is focused on addressing the symptoms present in each individual and may require a team of medical specialists.


name: pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal


extraosseous osteosarcoma

description: An osteosarcoma arising from the soft tissue.


vulvar alveolar soft part sarcoma

description: An alveolar soft part sarcoma arising from the vulva.


name: bile acid CoA:amino acid N-acyltransferase deficiency

description: Any disorder of bile acid aminotransferase in which the cause of the disease is a mutation in the BAAT gene.


glottis neoplasm

description: A benign or malignant neoplasm that affects the glottic area of the larynx.


hand-Schuller-Christian disease

description: A multifocal, unisystem form of Langerhans-cell histiocytosis. There is involvement of multiple sites in one organ system, most frequently the bone. Patients are usually young children presenting with multiple destructive bone lesions.


name: Niemann-Pick disease type C, severe perinatal form


name: congenital absence of thigh and lower leg with foot present


Astrakhan spotted fever

description: An infectious disease of the Astrakhan region, Chad, Kosovo, caused by infection with rickettsia conorii subsp. caspia.


disease of orbital part of eye adnexa

description: Diseases of the bony orbit and contents except the eyeball.


description: Any neurodevelopmental disorder in which the cause of the disease is a variation in the HNRNPC gene. It is characterized by global developmental delay, intellectual disability, behavioral abnormalities, and subtle facial dysmorphism. It is caused by heterozygous HNRNPC germline variants.


hereditary macular dystrophy

description: Macular dystrophy that is related to a change in a gene.


name: hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome

description: Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome is characterized by alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction (primary hypothyroidism), hypohidrosis, ephelides, enteropathy, and respiratory tract infections due to ciliary dyskinesia, leading to suggestion of the acronym ANother syndrome as alternative name for this condition. It has been described in three patients (two brothers and an unrelated girl). Transmission is autosomal recessive.


upper digestive tract disorder

description: A disease or disorder that involves the upper digestive tract.


antidepressant type abuse

description: A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences.


lethal recessive chondrodysplasia

description: Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988.


canine osteosarcoma

description: An osteosarcoma of mesenchymal origin in a dog. It is the most common bone cancer in dogs, most often developing in the limbs of large or giant breed dogs. The morphologic and biologic behavior of canine osteosarcomas is similar to that of human osteosarcomas.


pyomyositis

description: Pyomyositis (PM) is a rare primary bacterial infection of the skeletal muscle, usually resulting from hematogenous spread or due to muscle injury, and characterized by pain and tenderness in the affected muscle, fever and abscess formation.


hantavirus infectious disease

description: Any infection caused by a virus of the genus Hantavirus, which is transmitted by aerosolized rodent excreta or rodent bites, that can result in a variety of clinical manifestations from hemorrhagic fever with renal syndrome to a pulmonary syndrome.


acrofacial dysostosis, Catania type

description: Acrofacialdysostosis, Catania type is a very rare type of acrofacialdysostosis characterized by mild intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males.


name: partial duplication of the long arm of chromosome 10


choanal atresia, unilateral

description: Unilateral choanal atresia is a, usually sporadic, congenital anomaly that is more commonly seen in females than in males (2:1), where the nose is blocked by bony or soft tissue formed during embryologic development on only one side (more commonly on the right side) and which is characterized by nasal obstruction and rhinorrhea, usually presenting at birth but that may go undetected until a respiratory infection aggravates the condition.


severe hemophilia B

description: Severe hemophilia B is a form of hemophilia B characterized by a large deficiency of factor IX leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.


parenchymatous neurosyphilis

description: A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has symptom irritability, has symptom difficulty concentrating, has symptom deterioration of memory, has symptom defective judgment, has symptom headaches, has symptom insomnia, has symptom fatigue, and has symptom lethargy.


name: disorder of sex development-intellectual disability syndrome

description: A rare syndrome with 46,XY disorder of sex development characterized by variable degrees of intellectual disability, short stature, severe genital anomalies resulting in sexual ambiguity (such as pseudovaginal perineoscrotal hypospadias and persistence of Müllerian structures), and ocular anomalies (microphthalmia, coloboma). Craniofacial peculiarities (coarse features, deep set eyes), spina bifida, imperforate anus, and sensorineural hearing loss were also described. No new cases have been reported since 1994.


NTRK fusion positive cancer

description: Neoplasm associated with the expression of a Neurotrophic Tyrosine Receptor Kinase (NTRK) Fusion. NTRK fusion-positive tumors have been identified in a broad range of solid tumor types, including breast, cholangiocarcinoma, colorectal, gynecological, neuroendocrine, non-small cell lung, salivary gland, pancreatic, sarcoma and thyroid cancers.


name: ganglion or cyst of synovium/tendon/bursa


name: juvenile arthritis due to defect in LACC1


name: neurodevelopmental disorder with microcephaly and structural brain anomalies


name: neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities


atrial tachycardia

description: A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate between 101 and 240 beats per minute. The P wave morphology must be distinct from the sinus P wave morphology. (CDISC)


name: mitochondrial complex 4 deficiency, nuclear type 7


central nervous system chondroma

description: An extraskeletal chondroma usually arising from the dura.


gonococcal seminal vesiculitis

description: A gonorrhea that involves the seminal vesicle.


prostate lymphoma

description: A rare non-Hodgkin or Hodgkin lymphoma that arises from the prostate gland.


name: immunodeficiency 97 with autoinflammation

description: An autosomal recessive complex immunologic disorder with variable features. Affected individuals present in the first decade of life with inflammatory interstitial lung disease or colitis due to abnormal tissue infiltration by activated T cells. Patients develop autoimmune cytopenias and may have lymphadenopathy; 1 reported patient had features of hemophagocytic lymphohistiocytosis (HLH). Some patients may have recurrent infections associated with mild lymphopenia, hypogammaglobulinemia, and NK cell dysfunction. Immunologic workup indicates signs of significant immune dysregulation with elevation of inflammatory serum markers, variable immune cell defects involving neutrophils, NK cells, and myeloid cells, and disrupted levels of T regulatory cells (Tregs). Two unrelated patients have been reported.


name: congenital myopathy 21 with early respiratory failure


name: partial deletion of the short arm of chromosome 19


sphenoid sinusitis

description: An acute or chronic inflammatory process affecting the mucous membrane of the sphenoid sinus.


KIF1A related neurological disorder

description: KIF1A-associated neurological disorder (KAND) encompasses a group of rare neurodegenerative conditions caused by variants in KIF1A


name: arthrogryposis, congenital, lower limb, X-linked


Birt-Hogg-Dube syndrome 2

description: Birt-Hogg-Dube syndrome caused by the mutations in PRDM10.


name: Schistosoma intercalatum infectious disease

description: An disease or disorder caused by infection with Schistosoma intercalatum.


maxillary sinus cholesteatoma

description: A rare, progressive, non-neoplastic pathologic process that arises from the maxillary sinus mucosal epithelium. It is characterized by the proliferation of keratinizing squamous epithelium and the formation of keratin sheets. It may lead to bone erosion and infections. Surgical removal is the appropriate treatment.


sexual sadism disorder

description: A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving acts (real, not simulated) in which the psychological or physical suffering of a victim is sexually exciting to the individual.


paraneoplastic cutaneous syndrome

description: Paraneoplastic syndrome that involves the integumental system.


name: chronic thromboembolic pulmonary hypertension

description: Chronic thromboembolic pulmonary hypertension (CTEPH) is characterized by the persistence of thromboemboli in the form of organized tissue obstructing the pulmonary arteries. The consequence is an increase in pulmonary vascular resistance (PVR) resulting in pulmonary hypertension (PH) and progressive right heart failure.


post-vaccinal encephalitis

description: An acute or subacute inflammatory process of the central nervous system characterized histologically by multiple foci of perivascular demyelination. Symptom onset usually occurs several days after an acute viral infection or immunization, but it may coincide with the onset of infection or rarely no antecedent event can be identified. Clinical manifestations include confusion, somnolence, fever, nuchal rigidity, and involuntary movements. The illness may progress to coma and eventually be fatal. (Adams et al., Principles of Neurology, 6th ed, p921)


name: spastic paraplegia 84, autosomal recessive


name: growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia


bone remodeling disease

description: A bone disease that results in formation or resorption abnormalities located in bone.


malignant tumor of palpebral epidermis

description: A cancer that involves the skin of eyelid.


name: lipodystrophy, congenital generalized, type 5


name: XY type gonadal dysgenesis-associated anomalies syndrome

description: Gonadal dysgenesis with multiple anomalies is an association syndrome described only once in two sisters aged 1 1/2 and 8 1/2 years. They had a 46,XY karyotype, cleft lip and palate, preauricular pits, and a 'squashed down' appearance because of a short columella and small nares. Other anomalies included broad hands and feet, and a hypermuscular appearance. Cardiac, renal, musculoskeletal, and ectodermal anomalies were also present. Ectodermal defects included 'punched out scalp defects' and unusual positioning of hair whorls. They also had short stature, streak gonads, and mild developmental delay. The mode of inheritance is most likely autosomal recessive.


name: Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive


alexia without agraphia

description: Loss of the power to comprehend written materials despite preservation of the ability to write (i.e., alexia without agraphia). This condition is generally attributed to lesions that 'disconnect' the visual cortex of the non-dominant hemisphere from language centers in the dominant hemisphere. This may occur when a dominant visual cortex injury is combined with underlying white matter lesions that involve crossing fibers from the occipital lobe of the opposite hemisphere. (From Adams et al., Principles of Neurology, 6th ed, p483)


childhood-onset epilepsy syndrome

description: A epilepsy syndrome that occurs during childhood.


name: intralobar congenital pulmonary sequestration


diffuse leptomeningeal melanocytosis

description: Diffuse leptomeningeal melanocytosis is a rare tumor of meninges arising from leptomeningeal melanocytes, characterized by diffuse infiltration of the leptomeninges (pia mater and arachnoidea) anywhere in the central nervous system. Clinical features may include stillbirth, intracranial hypertension and hydrocephalus, seizure, ataxia, syringomyelia, cranial nerve palsy, intracranial hemorrhage, sphincter dysfunction and neuropsychiatric symptoms. Transformation into malignant melanoma of the central nervous system was reported. It may be associated with congenital nevi, as a part of neurocutaneous melanosis.


name: leukemia, acute lymphocytic, susceptibility to, 2


diphtheritic cystitis

description: A cystits which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder.


pseudoaminopterin syndrome

description: Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature.


idiopathic syringomyelia

description: Idiopathic syringomyelia is a rare, non-syndromic central nervous system malformation characterized by a longitudinally oriented fluid-filled cavity inside the spinal cord parenchyma or the central canal, without any readily identifiably cause. It is usually associated with pain, sensory and/or musculoskeletal disturbances, but it can also be an incidental and asymptomatic finding.


superior limbic keratoconjunctivitis

description: Superior limbic keratoconjunctivitis (SLK) is a chronic and recurrent eye disease which affects thesuperior bulbar conjunctiva (the clear layer that covers the eyeball, over the sclera) and tarsal conjunctiva (the clear layer that lines the eyelids), as well as the superior limbic aspect of the cornea (the area above the cornea). It is commonly found in women 20-70 years of age. The signs and symptoms include burning, redness and irritation and tend to develop slowly over a period of 1 to 10 years.Vision usually remains intact. While the underlying cause ofSLK remains unknown, it is believed that the condition issecondary to superior bulbar conjunctiva laxity. Factors inducing conjunctiva laxity include thyroid eye disease (usually hyperthyroidism), tight upper eyelids, and prominent globes. A mimicking disorder has been encountered in soft contact lens (SCL) wearers, typically with exposure to thimerosal-preserved solutions. Treatment of SLK may involve the use of various medications, surgery, or a combination of both.


plastic bronchitis

description: A lymphatic flow disorder that causes severe respiratory issues. In children with plastic bronchitis, lymph fluid builds in the airways and forms rubbery or caulk-like plugs (known as casts). These casts block the airways, making it difficult to breathe.


BEST1-related vitreoretinochoroidopathy

description: Any vitreoretinochoroidopathy caused by a heterozygous variant in the BEST1 gene.


name: glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form


deltaretrovirus infections

description: Infections caused by the HTLV or BLV deltaretroviruses. They include human T-cell leukemia-lymphoma (LEUKEMIA-LYMPHOMA, T-CELL, ACUTE, HTLV-I-ASSOCIATED).


hereditary neurocutaneous angioma

description: Hereditary neurocutaneous angioma is characterized by the association of cerebral and cutaneous angiomatous lesions. It has been described in less than 10 families. Clinical manifestations of the cerebral lesions include epilepsy, cerebral hemorrhage, and focal neurological deficit. Transmission is autosomal dominant.


SCN4A-related channelopathy

description: Any muscular channelopathy in which the cause of the disease is a variation in the SCN4 gene. This is characteristic of a continuum in the clinical spectrum that includes sodium-channel myotonia, paramyotonia congenita, hypokalemic periodic paralysis type II and hyperkalemic periodic paralysis.


name: dwarfism, low-birth-weight type, with unresponsiveness to growth hormone


orofaciodigital syndrome XI

description: Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects.


unilateral focal polymicrogyria

description: Unilateral focal polymicrogyria (BFPP) is the mildest sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement.


name: microcephaly 30, primary, autosomal recessive


name: localized dystrophic epidermolysis bullosa

description: A localized form of dystrophic epidermolysis bullosa characterized by blisters confined primarily to the hands and feet (acral form) or to the pretibial region (pretibial form). Nail dystrophy or loss is common and may be an isolated finding (nail only form). This disease can be inherited via autosomal dominant or autosomal recessive inheritance.


gynatresia

description: A congenital or acquired occlusion of an opening in any part of the female genital tract.


haemonchiasis

description: Infection with nematodes of the genus haemonchus, characterized by digestive abnormalities and anemia similar to that from hookworm infestation.


central bilateral macrogyria

description: Central bilateral macrogyria is a neuronal migration disorder characterized by pseudobulbar palsy, developmental delay, mild mental retardation and epilepsy. It has been described in at least four children.


name: secondary non-traumatic avascular necrosis


name: qualitative or quantitative defects of protein ZASP


steroid lipomatosis

description: A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the face, upper middle back, and sternal region. It is associated with adrenocortical steroid therapy or an increase in endogenous adrenocortical hormone.


oculogyric crisis

description: A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes.


name: renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies


subcutaneous mycosis

description: A mycosis that involves subcutaneous tissue. There are three general types of subcutaneous mycoses: chromoblastomycosis, mycetoma, and sporotrichosis.


reactive thrombocytosis

description: A thrombocytosis caused by an underlying condition, such as an infection.


aplasia cutis-myopia syndrome

description: Aplasia cutis-myopia syndrome is characterized by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant.


name: partial deletion of the long arm of chromosome 2

description: Chromosome 2q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 2q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.


SF3B4-related acrofacial dysostosis

description: A congenital malformation syndrome characterized by mandibulofacial dysostosis and anterior upper-limb defects, though occasionally, lower-limb defects have also been reported. Intrafamilial variability has been observed along with phenotype variability and severity including shoulder and pelvic girdle hypoplasia, fibular hypoplasia and eleven ribs.


name: desmoid tumor caused by somatic mutation


intellectual disability, Wolff type

description: Intellectual disability, Wolff type is a rare intellectual disability syndrome characterized by severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias.


clivus meningioma

description: A meningioma that affects the clivus.


name: mitochondrial membrane transport disorder


abdominal ectopic pregnancy

description: Ectopic pregnancy characterized by the implantation of the embryo in the peritoneal cavity or abdominal organs.


congenital right-sided heart lesions

description: Serious heritable structural anomalies of the right side of the heart, including pulmonary atresia, tricuspid valve disease and Ebstein's anomaly, and right ventricular outflow tract obstruction and/or pulmonary stenosis, that are present from birth.


tetanus neonatorum

description: A syndrome of generalized rigidity with muscle spasms and seizures in the neonatal period resulting from Clostridium tetani toxin production.


name: intellectual developmental disorder, X-linked 112


glossopharyngeal motor neuropathy

description: Diseases of the ninth cranial (glossopharyngeal) nerve or its nuclei in the medulla. The nerve may be injured by diseases affecting the lower brain stem, floor of the posterior fossa, jugular foramen, or the nerve's extracranial course. Clinical manifestations include loss of sensation from the pharynx, decreased salivation, and syncope. Glossopharyngeal neuralgia refers to a condition that features recurrent unilateral sharp pain in the tongue, angle of the jaw, external auditory meatus and throat that may be associated with syncope. Episodes may be triggered by cough, sneeze, swallowing, or pressure on the tragus of the ear. (Adams et al., Principles of Neurology, 6th ed, p1390)


name: orotic aciduria without megaloblastic anemia


chromosome 14q11-q22 deletion syndrome

description: 14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism.


reticulohistiocytic granuloma

description: A rare cutaneous lesion composed of eosinophilic histiocytes, which are often multinucleated. The lesions are yellow-brown papules affecting any part of the body. Patients are usually adult men. The prognosis is excellent. -- 2003


name: mitochondrial complex 4 deficiency, nuclear type 11


vulvar disease

description: A non-neoplastic or neoplastic disorder that affects the vulva. Representative examples include infection, Bartholin gland adenoma, and vulvar carcinoma.


name: acyl-CoA binding domain containing protein 5 deficiency

description: A disorder of a single peroxisomal protein, acyl-CoA binding domain containing protein 5, which forms a contact site between the peroxisomes and the ER. The deficiency is characterized by elevated blood very long-chain fatty acids (VLCFAs), retinal dystrophy, cerebral white matter disease and psychomotor delay.


endometrial hyperplasia without atypia

description: Simple or complex endometrial hyperplasia characterized by the absence of epithelial atypia.


name: intellectual developmental disorder with cardiac defects and dysmorphic facies

description: A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, congenital heart defects, generalized hypertrichosis and dysmorphic facial features, most commonly triangular face, thick arched eyebrows, widely spaced eyes, posteriorly rotated low set ears, depressed nasal bridge, broad nasal root and tip, and pointed chin.


latent early syphilis

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


diplegia of upper limb

description: Evidence of diplegia of the upper limbs.


name: erythrokeratodermia variabilis et progressiva 6


logopenic progressive aphasia

description: Logopenic progressive aphasia (lv-PPA) is a form of primary progressive aphasia (PPA), characterized by impaired single-word retrieval and naming and impaired repetition with spared single-word comprehension and object knowledge.


name: hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes


name: xerosis and growth failure with immune and pulmonary dysfunction syndrome


neurofibromatosis-Noonan syndrome

description: A RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when cafC)-au-lait spots are present in patients diagnosed with NS).


name: partial deletion of the long arm of chromosome 4

description: Chromosome 4q deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the long arm (q) of chromosome 4 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Common features shared by many people with this deletion includedistinctive craniofacial features, skeletal abnormalities, heart defects, intellectual disability, developmental delay, and short stature. Most cases are not inherited, although affectedpeople can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.


name: epiphyseal dysplasia of femoral head, myopia, and deafness


variable age onset epilepsy

description: An epilepsy syndrome that has an onset during variable ages and stages of life.


MRCS syndrome

description: MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400.


tropical spastic paraparesis

description: Tropical spastic paraparesis is a chronic systemic immune-mediated inflammatory myeloneuropathy, more frequently reported in women than in men, that usually presents in adulthood with slowly progressive spastic paraparesis of the lower limbs, bladder and bowel dysfunction, and sensory disturbances in the lower extremities (e.g. paresthesia and dysesthesia) and that is associated with a human T-cell lymphotropic virus type 1 (HTLV-1) infection.


gonococcal conjunctivitis

description: Inflammation of the conjunctiva in a newborn due to Neisseria gonorrhoeae which was acquired during labor and delivery.


rete ovarii neoplasm

description: A benign or malignant neoplasm that arises from the rete ovarii which is located in the ovarian hilus. It includes adenoma, cystadenoma, cystadenofibroma, and adenocarcinoma.


canine soft tissue sarcoma

description: Soft tissue sarcoma occurring in a dog.


canine mammary adenoma

description: An adenoma arising from the mammary gland of a dog.


sarcomatosis

description: The occurrence of several sarcomas in different anatomic locations.


name: autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome


epididymo-orchitis

description: A disorder involving inflammation of the epididymis and testes.


name: palmoplantar keratoderma-spastic paralysis syndrome


name: ectodermal dysplasia 15, hypohidrotic/hair type


name: intellectual disability, autosomal recessive 30


name: deafness, sensorineural, with peripheral neuropathy and arterial disease


name: disorder of neutral amino acid transport

description: An inherited metabolic disease that is has its basis in the disruption of neutral amino acid transport.


paraneoplastic renal syndrome

description: Paraneoplastic syndrome that involves the renal system.


grade I lymphomatoid granulomatosis

description: A lymphomatoid granulomatosis that is characterized by the presence of a polymorphous lymphoid infiltrate without cytologic atypia. Large lymphocytes are absent or rare. By in situ hybridization, EBV-positive cells are infrequently seen.


name: hidrotic ectodermal dysplasia, Halal type

description: Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, cafC)-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner.


metachronous kidney Wilms' tumor

description: Wilms tumor arising in the remaining kidney following treatment of the original Wilms tumor.


name: Charcot-Marie-Tooth disease, axonal, Type 2HH


name: disorder of beta and omega amino acid metabolism


mosaic trisomy 12

description: Mosaic trisomy 12 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by developmental or growth delay, short stature, craniofacial dysmorphism (e.g. turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (e.g. atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry, and intellectual disability have also been reported.


name: leukoencephalopathy, progressive, infantile-onset, with or without deafness


name: pyoderma gangrenosum-acne-suppurative hidradenitis syndrome


cervical atypical polypoid adenomyoma

description: An adenomyoma that arises from the cervix and is characterized by the presence of a glandular component exhibiting architectural complexity.


parasympathetic paraganglioma

description: A benign or malignant, usually non-functioning, extra-adrenal paraganglioma that arises from paraganglia located along the parasympathetic nerves. Representative examples include aorticopulmonary, carotid body, jugulotympanic, and mediastinal paragangliomas.


inferior myocardial infarction

description: Myocardial infarction in which the inferior wall of the heart is involved. It is often caused by occlusion of the right coronary artery.


name: Ullrich congenital muscular dystrophy 1C


name: arteritis, familial granulomatous, with juvenile polyarthritis


tendinosis

description: The chronic degeneration of a tendon without inflammation.


isolated craniosynostosis

description: A craniosynostosis that is not part of a larger syndrome.


inherited pseudohypoaldosteronism

description: A form of pseudohypoaldosteronism that is characterized Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology.


name: sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth


name: canine teeth, absence of upper permanent


anomaly of the tricuspid valve chordae

description: Anomaly of the tricuspid valve chordae is a rare, congenital anomaly of the tricuspid subvalvular apparatus characterized by aberrant tendinous chords, which insert at the clear zone of the leaflet instead of its free edge and connect to the endocardium instead of the papillary muscles. Resulting tethering of one or more tricuspid leaflets leads to their impaired mobility and tricuspid regurgitation. Association with other congenital cardiac anomalies has been reported.


alcohol amnestic disorder

description: A mental disorder associated with chronic ethanol abuse (ALCOHOLISM) and nutritional deficiencies characterized by short term memory loss, confabulations, and disturbances of attention. (Adams et al., Principles of Neurology, 6th ed, p1139)


name: myasthenic syndrome, congenital, 24, presynaptic


name: idiopathic non-lupus full-house nephropathy


mosaic trisomy 6

description: Trisomy 6 is a rare prenatal finding. Trisomy 6 conceptions have not been observed in the large case reports of chromosomal mosaicism detected during chorionic villus sampling (Hahnemann & Vejerslev 1997).


Crane-Heise syndrome

description: A very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles.


name: pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities


name: pituitary hormone deficiency, combined or isolated, 8


name: cerebellar ataxia-ectodermal dysplasia syndrome

description: Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy.


name: neonatal-onset developmental and epileptic encephalopathy

description: A complex neurodevelopmental disorder characterized by a neonatal onset of recurrent seizures, an abnormal neonatal electroencephalographic background with multifocal epileptiform discharges, excessive discontinuity, and/or burst-suppression patterns, and encephalopathy. Seizures may be pharmacoresistant or responsive. Developmental delays persist but vary in severity. In some individuals, subsequent evolution to other epileptic encephalopathy syndromes (e.g. West syndrome) may occur.


pyometritis

description: Inflammation of uterine musculature associated with pus in the uterine cavity.


name: severe combined immunodeficiency due to CARMIL2 deficiency


name: IgG4-related submandibular gland disease

description: A chronic fibrotic inflammatory process affecting the salivary gland. Signs and symptoms include firm and painful swelling of the salivary gland, often associated with the presence of salivary gland stones.


Li-Fraumeni syndrome

description: A rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC).


Ludwig's angina

description: Severe cellulitis of the submaxillary space with secondary involvement of the sublingual and submental space. It usually results from infection in the lower molar area or from a penetrating injury to the mouth floor. (From Dorland, 27th ed)


endomyometritis

description: An inflammation of the endometrium and the myometrium.


baylisascariasis

description: An infection that is caused by the raccoon nematode Baylisascaris procyonis, which is transmitted by the ingestion of embryonated eggs in contaminated soil; symptoms depend on larval migration sites (visceral organs, eye, or brain) provoking severe inflammatory responses.


acquired skeletal muscle disease

description: An instance of skeletal muscle disease that is acquired during the lifetime of the individual.


name: acute myeloid leukemia, biallelic CEBPA gene mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly biallelic CEBPA gene mutation. (The presence of mutations in both alleles of the CEBPA gene.)


name: cerebellar ataxia, benign, with thermoanalgesia


ring chromosome 1

description: Ring chromosome 1 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly.


name: MELAS syndrome caused by mutation in MTTS2

description: Any MELAS syndromein which the cause of the disease is a mutation in the MTTS2 gene.


pyknoachondrogenesis

description: Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.


cerebellopontine angle meningioma

description: A meningioma that affects the cerebellopontine angle.


familial ossifying fibroma

description: An instance of ossifying fibroma (disease) that is caused by an inherited modification of the individual's genome.


retinal cell neoplasm

description: A neoplasm arising from the neural retina. This category includes retinoblastoma and retinocytoma.


functioning endocrine neoplasm

description: A hormone producing endocrine neoplasm, associated with a hormonal syndrome.


thymic neuroendocrine tumor

description: Thymic endocrine tumor is a rare, malignant, primary thymic neoplasm originating from neuroendocrine cells, presenting as a mass within the anterior mediastinum. Patients typically present with nonspecific symptoms, such as chest pain, cough, shortness of breath, or in some cases, superior vena cava syndrome, although patients could be asymptomatic during the early stages or present with multiple endocrine neoplasia type I. Ectopic production of ACTH and serotonin can lead to Cushing syndrome and carcinoid sydrome, respectively.


name: autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation


orgasm-induced seizures

description: Orgasm-induced seizures is a rare neurologic disease characterized by complex partial seizures with or without secondary generalization, or idiopathic primarily generalized epilepsy, triggered by sexual orgasm. Seizures usually start immediately, shortly after or a few hours after the achievement of orgasm, last a few seconds or minutes, and are followed, in very rare cases, by intense migraine.


acute myeloid leukemia, t(3;5)(q25;q34)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(3;5)(q25;q34). (A cytogenetic abnormality that refers to the translocation of the long arm (q25) of chromosome 3 and the long arm (q34) of chromosome 5. It is associated with the development of acute myeloid leukemia arising from myelodysplastic syndrome, acute myeloid leukemia with multilineage dysplasia, and acute myeloid leukemia with myelodysplasia-related changes.)


name: gamma-amino butyric acid metabolism disorder

description: An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway.


name: generalized peeling skin syndrome type C


abnormal mineralization disorder

description: A skeletal dysplasia where osteoid becomes calcified.


name: immunodeficiency 91 and hyperinflammation

description: An autosomal recessive immunodeficiency caused by a variation in the ZNFX1 gene, characterized by severe infections by both RNA and DNA viruses and virally triggered inflammatory episodes with hemophagocytic lymphohistiocytosis-like disease, early-onset seizures, and renal and lung disease.


pontine tegmental cap dysplasia

description: Pontine tegmental cap dysplasia (PTCD) is a non-progressive neurological disorder characterized by significant developmental delay, cranial nerve dysfunction, and malformation of the hindbrain.Individuals with PTCD may have a collection of medical and developmental problems including: hearing impairment, ataxia,language and speech disorders, feeding and swallowingdifficulties, heartmalformations and facial paralysis.The severity of themedical problems varies among patients. Some patients have a good long-term prognosiswith normal intelligence and partial speech. The cause of PTCD has not been identified. Treatment is focused on managing the underlying symptoms and may include interventions such as cochlear implantation.


name: neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities


name: polydactyly of an index finger, bilateral


name: acute myeloid leukemia with 11q23 abnormalities

description: An acute myeloid leukemia associated with t(9;11)(p22.3;q23.3) and MLLT3-KMT2A fusion protein expression. Morphologically it usually has monocytic features. It may present at any age but it is more commonly seen in children. Patients may present with disseminated intravascular coagulation.


name: Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly


atypical coarctation of aorta

description: Middle aortic coarctation is a rare vascular anomaly characterized by the segmental narrowing of the abdominal and/or distal descending thoracic aorta with varying involvement of the visceral and renal arteries that commonly presents in children and young adults with early onset and refractory hypertension, abdominal angina, lower-limb claudication and that can lead to life-threatening complications associated with severe hypertension (i.e. myocardial infarction, heart failure, aortic rupture, renal insufficiency and intracranial hemorrhage). It may be due to various congenital or acquired causes, but it is most often secondary to an acquired inflammatory disease (i.e. Takayasu arteritis or giant cell arteritis).


name: urea cycle disorder or inherited hyperammonemia

description: A disorder of amino acid metabolism that has its basis in the disruption of the urea cycle or an inherited hyperammonemia (any specific disease which causes an inherited increased concentration of ammonia in the blood).


name: autosomal recessive congenital ichthyosis 7

description: An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has material basis in variation in the chromosome region 12p11.2-q13.1.


name: familial hemophagocytic lymphohistiocytosis type 1

description: Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome with an onset usually occurring within a few months or less common several years after birth.


description: Blepharospasm-oromandibular dystonia, also called Meige dystonia or Meige syndrome is a focal dystonia involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia.


fallopian tube endometriosis

description: Endometriosis that affects the fallopian tube. Symptoms include infertility, pelvic pain, painful menstruation, and painful intercourse.


familial isolated trichomegaly

description: Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated.


myocardial rupture

description: Disease-related laceration or tearing of tissues of the heart, including the free-wall MYOCARDIUM; HEART SEPTUM; PAPILLARY MUSCLES; CHORDAE TENDINEAE; and any of the HEART VALVES. Pathological rupture usually results from myocardial infarction (HEART RUPTURE, POST-INFARCTION).


exstrophy-epispadias complex

description: A spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form. Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus.


name: glycosylphosphatidylinositol biosynthesis defect 18


description: An inborn errors of metabolism disorder caused by homozygosity for mutations in the TAP2 gene. It is characterizeed by nonhealing, chronic, ulcerative granulomatous leg lesions combined with recurrent otitis media and sinopulmonary infections.


cluster headache, familial

description: An instance of cluster headache syndrome that is caused by an inherited modification of the individual's genome.


pasteurellosis

description: Infections with bacteria of the genus pasteurella.


name: microcephalic osteodysplastic primordial dwarfism types I and III

description: Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.


name: leukemia, chronic lymphocytic, susceptibility to, 4


name: inosine phosphorylase deficiency, immune defect due to


submandibular adenitis

description: Inflammation of the submandibular lymph nodes.


rhabdomyolysis-myalgia syndrome

description: A myopathy that is characterized by muscle breakdown (rhabdomyolysis), heat and exertion-related muscle pain (myalgia) and cramping symptoms, severe muscle pain, sudden elevation and subsequent fall of serum creatine phosphokinase levels and products of muscle breakdown in the urine (myoglobinuria). Associated with RYR1 variations. Rhabdomyolysis is associated with a range of external triggers, including strenuous exercise beyond the limit of fatigue, heat stress, illicit drug or alcohol abuse, use of supplements or certain medications, recent viral illness or muscle trauma.


isolated encephalocele

description: Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur.


name: multiple system atrophy, parkinsonian type

description: Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability).


polydactyly-syndactyly-triphalangism

description: Any skeletal dysplasia that is characterizedby polydactyly, syndactyly and triphalangism, where a digit has three phalanges instead of two.


name: neurodevelopmental disorder with seizures and speech and walking impairment


benign neoplasm of tongue

description: A benign neoplasm that involves the tongue.


name: lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation


name: microcephalic osteodysplastic primordial dwarfism type I

description: A microcephalic osteodysplastic primordial dwarfism that has material basis in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA (snRNA) component of the U12-dependent (minor) spliceosome, on chromosome 2q14.2. It is characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular, auditory sensory deficits.


name: brainstem intraparenchymal clear cell meningioma

description: A morphologic variant of meningioma arising from the brain stem. It is characterized by the presence of clear glycogen-rich polygonal cells.


supraglottis cancer

description: A malignant neoplasm that affects the supraglottic area of the larynx. The vast majority of cases are squamous cell carcinomas.


rete testis neoplasm

description: A benign or malignant neoplasm that affects the rete testis. Representative examples include adenoma and adenocarcinoma.


idiopathic congenital hypothyroidism

description: Idiopathic congenital hypothyroidism is a type of primary congenital hypothyroidism whose cause and prevalence are unknown.


ACD-related long telomere syndrome

description: A telomere biology disorder typically characterized by increased telomere length due to a pathogenic variant in the ACD gene that may cause familial melanoma.


eosinophilia, familial

description: Familial occurrence, with more than one generation being affected, of persistent eosinophilia, an increase in the number of eosinophils in the blood, in the absence of known causal factors.


name: neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities


lumbosacral plexus lesion

description: A nerve plexus disease that involves the lumbosacral nerve plexus.


name: osteosclerosis with ichthyosis and fractures


name: microphthalmia with cyst, bilateral facial clefts, and limb anomalies


name: encephalopathy due to mitochondrial and peroxisomal fission defect


triglyceride storage disease

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


isolated filum lipoma

description: A rare dysraphic abnormality characterized by the infiltration of fatty tissue localized in the filum terminale, thickens and loses its flexibility, with normal conus shape, regardless of conus level. There is no other spinal cord malformation associated, but it can be associated with extraspinal malformation (ex: anorectal malformation) or syndromic situation.


pityriasis alba

description: A prevalent and benign dermatological condition that predominantly affects children and adolescents. The name "pityriasis alba" derives from its appearance, where "pityriasis" denotes the fine scales and "alba" signifies the pale color (hypopigmentation).


name: hypothalamic hamartomas with gelastic seizures

description: A rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty.


name: MELAS syndrome caused by mutation in MTTK

description: Any MELAS syndromein which the cause of the disease is a mutation in the MTTK gene.


hallucinogen abuse

description: A substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences.


name: rhizomelic limb shortening with dysmorphic features


anterior compartment of tibia syndrome

description: Rapid swelling, increased tension, pain, and ischemic necrosis of the muscles of the anterior tibial compartment of the leg, often following excessive physical exertion.


anemia due to chronic disorder

description: Anemia due to a disorder that is persistent or long-standing in nature.


methimazole embryofetopathy

description: Methimazole embryopathy is a teratogenic embryofetopathy that results from maternal exposition to methimazole (MMI; or the parent compound carbimazole) in the first trimester of pregnancy. MMI is an antithyroid thionamide drug used for the treatment of Graves' disease. In the infant, MMI may result in choanal atresia, esophageal atresia, omphalocele, omphalomesenteric duct anomalies, congenital heart disease (such as ventricular septal defect), renal system malformations and aplasia cutis. Additional features that may be observed include facial dysmorphism (short upslanting palpebral fissures, a broad nasal bridge with a small nose and a broad forehead) and athelia/hypothelia.


malignant neoplasm of acoustic nerve

description: A malignant neoplasm involving the vestibulocochlear nerve.


name: mitochondrial DNA depletion syndrome 16 (hepatic type)


name: enamel hypoplasia, cataracts, and aqueductal stenosis


name: hereditary site-specific ovarian cancer syndrome

description: Ovarian cancer caused by germline mutations in various genes, usually associated with additional cancer risks. The most common are breast and ovarian cancer syndrome (HBOC) due to mutations in BRCA1 and BRCA2 genes and hereditary nonpolyposis colorectal cancer (HNPCC) due to mutations in DNA mismatch-repair genes. Mutations in STK11 gene, causing Peutz-Jeghers syndrome, are also associated with a risk of ovarian cancer (typically sex cord stromal tumors). Mutations in other genes, including RAD51C, RAD51D, PALB2, confer an elevated ovarian cancer risk in a minority of patients.


name: severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome


conduction system disorder

description: A disease involving the conducting system of heart.


name: classic complement early component deficiency

description: A genetic deficiency of any early component of the classical pathway (C1q, C1r/s, C2, C4, and C3) that is associated with autoimmune diseases due to the failure of clearance of immune complexes (IC) and apoptotic materials, and the impairment of normal humoral response.


discrete papular lichen myxedematosus

description: Discrete papular lichen myxedematosus is a rare chronic, slowly progressive form of localized lichen myxedematosus characterized by the development of a few to multiple small symmetrical skin-coloured mucinous papules on the limbs and trunk.


Moraxellaceae infectious disease

description: Infections with bacteria of the family moraxellaceae.


name: vertebral, cardiac, tracheoesophageal, renal, and limb defects


familial primary hyperparathyroidism

description: An instance of primary hyperparathyroidism (disease) that is caused by an inherited modification of the individual's genome.


name: kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome


name: developmental and epileptic encephalopathy 96


tuberous sclerosis 1

description: Tuberous sclerosis mapped to chromosome 9q34 (TSC1 gene).


brachydactyly-long thumb syndrome

description: Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981.


pituitary gland infarction

description: Ischemic necrosis of the pituitary gland.


lymphatic system cancer

description: A malignant neoplasm involving the lymphatic part of lymphoid system


name: cerebral palsy, ataxic, autosomal recessive


benign neoplasm of glottis

description: A benign neoplasm that involves the glottis.


name: neurodevelopmental disorder with microcephaly, hypotonia, and absent language


name: neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities

description: An autosomal dominant neurodevelopmental disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, including ataxia and spasticity, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. Dysmorphic facial features may also be observed. Most patients have early-onset seizures; some may develop a demyelinating peripheral neuropathy. The clinical features suggest involvement of both the central and peripheral nervous systems.


plasma protein metabolism disease

description: An inherited metabolic disorder that involves plasma protein metabolism malfunction.


monosomy

description: A chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number.


name: right inferior vena cava connecting to left-sided atrium


name: iridogoniodysgenesis and skeletal anomalies