name: unilateral multicystic dysplastic kidney

description: Unilateral multicystic dysplastic kidney is the form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional.


name: developmental and epileptic encephalopathy, 84

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


gonococcal salpingitis

description: An salpingitis caused by infection with Neisseria gonorrhoeae.


subcorneal pustular dermatosis

description: A rare, benign, chronic disease characterized by sterile pustular eruption, typically involving the flexural sites of the trunk and proximal extremities.


acquired torsion dystonia

description: An instance of torsion dystonia that is acquired during the lifetime of the individual.


name: partial monosomy of the long arm of chromosome 9


name: fibrosis of extraocular muscles, congenital, 3b


childhood disintegrative disorder

description: A rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviors and dementia.


prostate stromal sarcoma

description: A rare malignant neoplasm arising from specialized prostatic stroma. It is characterized by the presence of stromal overgrowth and hypercellularity, increased number of mitotic figures, and pleomorphism.


name: congenital alveolar dysplasia due to FGF10

description: Any congenital alveolar dysplasia in which the cause of the disease is a mutation in the FGF10 gene.


macular amyloidosis

description: Macular amyloidosis (MA) is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by pruritic hyperkeratotic gray-brown macules that give a rippled or reticulated pattern of pigmentation usually in the upper back and extensor sites of arms, forearms and legs, and histologically by the deposition of amyloid in the upper dermis and close to the basal cell layer of the epidermis. MA is commonly associated with other skin diseases, such as atopic dermatitis.


name: adolescent/adult onset autosomal dominant epilepsy with auditory features

description: A genetic focal epilepsy, with focal sensory auditory seizures seen in family members. Seizures often comprise such mild symptoms that they are undiagnosed. There are no implications expected for development or learning and seizures are typically infrequent and well controlled.


name: idiopathic linear interstitial keratitis

description: Idiopathic linear interstitial keratitis is a rare, acquired ocular disease characterized by migratory or non-migratory, horizontal, linear, stromal infiltrates that may heal spontaneously. Minimal vascularization and scarring may be observed but vision loss is not associated.


name: arthrogryposis-ectodermal dysplasia-other anomalies syndrome


dysostosis, Stanescu type

description: Stanescu type dysostosis is a rare form of osteosclerosis.


fibroosseous pseudotumor of the digits

description: A non-neoplastic soft tissue disorder characterized by the localized formation of reactive fibrous and bone tissues. It usually occurs in the subcutaneous tissue of the proximal phalanx. Less frequently, it involves the toe. It presents with swelling and pain of the affected area. The prognosis is excellent. However, incomplete excision may lead to the re-growth of the lesion.


drug-resistant tuberculosis

description: Tuberculosis disease caused by Mycobacterium tuberculosis isolate that is resistant to one or more of the antitubercular medications.


vascular ectasia

description: Dilatation of the blood vessels.


name: developmental and epileptic encephalopathy 6B


name: congenital mitral valve insufficiency and/or stenosis


cataract 29

description: A cataract that has material basis in variation in the region 2pter-p24.


name: steroid-responsive encephalopathy associated with autoimmune thyroiditis


nasolacrimal duct cyst

description: Nasolacrimal duct cyst describes a unilateral or bilateral congenital cyst of the nasolacrimal duct, which is almost always associated with dacryocystocele, presenting most commonly at birth or a few weeks of age (but rarely presenting in adulthood) as a benign, grayish blue mass in the inferomedial canthus or in the nasal cavity, that can cause epiphora, dacryocystitis (inflammation of the lacrimal sac) and nasal obstruction. It is more commonly reported in females.


name: complex neurodevelopmental disorder with motor features

description: A complex neurodevelopmental disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy). Additionally, the disorder features at least one phenotype associated with motor function, including but not limited to spasticity, hypo- or hypertonia, dyskinesia, choreo-athetosis, or ataxia.


name: congenital smooth muscle hamartoma, with or without hemihypertrophy


name: B-lymphoblastic leukemia/lymphoma with hyperdiploidy

description: A precursor lymphoid neoplasm composed of B-lymphoblasts which contain more than 50 and usually less than 66 chromosomes. It has a favorable clinical outcome.


name: atypical dopamine transporter deficiency syndrome

description: A subset of SLC6A3-related DTDS cases which have later onset which ranges from late childhood to adulthood. This disorder is characterized by the presentation of parkinsonism-dystonia, rigidity, tremor, and bradykinesia after normal childhood development.


name: acute myeloid leukemia, t(10;11)(p12;q23)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p12;q23). (A cytogenetic abnormality that refers to the translocation of chromosome 10p12 with chromosome 11q23. It is associated with acute myeloid leukemia in childhood.)


odontochondrodysplasia 1

description: A very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta.


name: suprabasal epidermolysis bullosa simplex

description: A form of epidermolysis bullosa simplex in which blistering occurs above the basal keratinocytes.


acitretin/etretinate embryopathy

description: Acitretin/Etretinate embryopathy is a teratogenic disorder due to acitretin or etretinate exposure during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limb anomalies.


Bickerstaff brainstem encephalitis

description: Bickerstaff's brainstem encephalitis (BBE) is a rare post-infectious neurological disease characterized by the association of external ophthalmoplegia, ataxia, lower limb arreflexia, extensor plantar response and disturbance of consciousness (drowsiness, stupor or coma).


name: hypogonadotropic hypogonadism 27 without anosmia


name: overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes

description: A disease caused by mosaic gain-of-function (GoF) of several genes in the MTOR pathway (MTOR, PIK3CA, PIK3R2 and AKT3) are functionally the same despite significant phenotypic variability. These GoF variants result in overgrowth due to an over-activation of key genes in this pathway. The phenotypic variability is generally attributed to the mosaic fraction and affected tissue types. For example, macrocephaly is noted if the variant is identified in the brain, but non symmetric overgrowth of that limb is noted when the variant is only present in the affected limb. The pathologies of the affected tissue often reveal similar characteristics such as cellular overgrowth. However, this is not always the case especially with focal cortical dysplasia. At times the characteristics pathologies are not present in the tissue but sampling biases are an issue. FCD resections often involve a very small area and so a very small amount of tissue is available for pathology and it is not guaranteed that lesional tissue is sent. Therefore, having a single disease term which can encompass the phenotypic variability yet provide a unifying molecular diagnosis name makes sense given the common functional mechanism.


salpingitis isthmica nodosa

description: Formation of nodules in the isthmus of the fallopian tube due to fallopian tube diverticulosis. It may cause infertility or ectopic pregnancy.


name: developmental and epileptic encephalopathy 111


name: incessant infant ventricular tachycardia

description: Incessant infant ventricular tachycardia is a rare type of ventricular tachycardia (VT) characterized by the presence of tachycardia originating from the ventricles, observed for more than 10% of a 24 hour monitoring period. Patients are either asymptomatic or present congestive heart failure.


thymic dysplasia

description: The developmental arrest and architectural distortion of the thymus that results in immunodeficiency.


description: A rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionally, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the 'butterfly sign' is characterisitcally observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described.


name: taurodontism, microdontia, and dens invaginatus


Eales disease

description: Eales disease (ED) is an idiopathic, inflammatory retinal venous occlusive disease characterized by 3 stages: vasculitis, occlusion and retinal neovascularization, leading to recurrent vitreous hemorrhages and vision loss.


atopic keratoconjunctivitis

description: Atopic keratoconjunctivitis is a rare and chronic allergic disease of the cornea and conjunctiva occurring in all age groups characterized by severe itching and burning sensation, conjunctival injection, photophobia and edema with serious cases leading to ulceration of the cornea which can result in blindness. It is often associated with atopic dermatitis.


name: short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2


familial syringomyelia

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


name: partial duplication of the long arm of chromosome 12

description: Chromosome 12q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 12. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 12q duplication include developmental delay, intellectual disability, behavioral problems, growth delay, and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.


congenital achiasma

description: Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy.


name: anti-neutrophil antibody associated vasculitis

description: Group of systemic vasculitis with a strong association with ANCA. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls.


name: epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase


name: infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome


Mendelian neurodevelopmental disorder

description: A neurodevelopmental disorder that is caused by genetic modifications where those modifications are inherited from a parent's genome.


name: lymphoblastic leukemia, acute, with lymphomatous features


fibrothecoma

description: A sex cord-stromal tumor characterized by mixed features of both fibroma and thecoma.


trichofolliculoma

description: Trichofolliculoma is a rare benign follicular hamartoma that develops primarily on the face of adults, with a particular predilection for the back of the nose, but also on the neck or scalp. It presents as a solitary hemispheric flesh-colored nodule with a central pore or black dot that may contain a tuft of hair.


name: hemolytic anemia with thermal sensitivity of red cells


description: Enthesitis-related juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritis that is characterized by both arthritis and inflammation of an enthesitis site (the point at which a ligament, tendon, or joint capsule attaches to the bone). Signs and symptoms generally develop in late childhood or early adolescence and include pain, tenderness, and swelling in joints and at the enthesis. The knee and the back of the ankle (at the Achilles tendon) are the most commonly affected parts of the body. The underlying cause of enthesitis-related juvenile idiopathic arthritis is currently unknown (idiopathic). It is very rare for more than one member of a family to have juvenile arthritis; however, research suggests that having a family member with juvenile arthritis or any autoimmune disease may increase the risk of having juvenile arthritis, in general. Treatment usually involves different types of medications to help manage symptoms and/or physical therapy.


progressive rubella panencephalitis

description: A neurological disorder arising from primary rubella infection of the brain, characterized by chronic encephalitis. It is believed to be due to a persistence or reactivation of rubella virus infection. It usually manifesting between 8–19 years of age.


name: growth failure, microcephaly, intellectual disability, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy


renal dysplasia, unilateral

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


adult choroid plexus neoplasm

description: A choroid plexus neoplasm that occurs in an adult.


type II mixed cryoglobulinemia

description: Type II mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins composed of polyclonal IgGs (autoantigens) and monoclonal IgM (autoantibody).


description: Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly.


name: partial duplication of the short arm of chromosome 17


name: agammaglobulinemia 10, autosomal dominant

description: An agammaglobulinemia characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system. Laboratory studies show low or absent circulating B cells and hypo- or agammaglobulinemia. Affected individuals may have adverse reactions to certain vaccinations, such as the polio vaccine. Treatment with replacement Ig is effective; hematopoietic stem cell transplantation has also been reported.


name: mitochondrial complex 1 deficiency, nuclear type 22


name: lateral semicircular canal malformation, familial, with external and middle ear abnormalities


collagen 6-related myopathy

description: A qualitative or quantitative defect of collagen 6 disorder that covers a wide spectrum of musculoskeletal phenotypes caused by dominant and recessive mutations in the three major collagen VI genes: COL6A1, COL6A2, and COL6A3. These variants lead to a variety of overlapping phenotypes, ranging from severe congenital muscle weakness, hypotonia, torticollis and contractures with loss or non-development of ambulation on one end and childhood to adult onset mild muscle weakness, stiffness, and joint hyperlaxity on the other.


name: uterine corpus mixed epithelial and mesenchymal neoplasm

description: A primary, benign or malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. Representative examples include adenomyoma, adenosarcoma, and carcinosarcoma.


acute rheumatic heart disease

description: Pancarditis, involving inflammation of the endocardium, myocardium, and epicardium. It results from an autoimmune reaction following an infection with Streptococcus pyogenes (Group A Streptococci).


name: nemaline myopathy 5B, autosomal recessive, childhood-onset


adult intestinal botulism

description: A very rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia.


name: amyotrophic lateral sclerosis 27, juvenile


name: gastrointestinal defects and immunodeficiency syndrome 2

description: A severe autosomal recessive developmental disorder characterized by multiple intestinal atresia apparent soon after birth. Affected infants have a distended abdomen and do not pass meconium. There is some evidence of inflammatory bowel disease. Death occurs in the first weeks of life. Some patients may also have immunodeficiency.


pigment dispersion syndrome

description: Pigment-dispersion syndrome is an eye disorder that occurs when pigment granules that normally adhere to the back of the iris (the colored part of the eye) flake off into the clear fluid produced by the eye (aqueous humor). These pigment granules may flow towards the drainage canals of the eye, slowly clogging them and raising the pressure within the eye (intraocular pressure or IOP). This rise in eye pressure can cause damage to the optic nerve (the nerve in the back of the eye that carries visual images to the brain). If the optic nerve becomes damaged, pigment-dispersion syndrome becomes pigmentary glaucoma. This happens in about 30% of cases. Pigment-dispersion syndrome commonly presents between the second and fourth decades, which is earlier than other types of glaucoma. While men and women are affected in equal numbers, men develop pigmentary glaucoma up to 3 times more often than women. Myopia (nearsightedness) appears to be an important risk factor in the development of pigment-dispersion syndrome and is present in up to 80% of affected individuals. The condition may be sporadic or follow an autosomal dominant pattern of inheritance with reduced penetrance. At least one gene locus on chromosome 7 has been identified. Pigment-dispersion syndrome can be treated with eye drops or other medications. In some cases, laser surgery may be performed.


uremic neuropathy

description: Neuropathy resulting from uremia.


pancreatic cancer, susceptibility to, 1

description: Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALLD gene.


description: X-linked intellectual disability-plagiocephaly syndrome is characterized by severe intellectual deficit, brachycephaly, plagiocephaly, prominent forehead and coarse facial features. It has been described in two males from one family. Two females belonging to the same family displayed moderate intellectual deficit but no craniofacial dysmorphism.


name: sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis


EZB-MYC+ diffuse large B-cell lymphoma

description: An EZB diffuse large B-cell lymphoma that expresses the double hit gene expression signature (DHITsig+) according to gene expression profiling. In addition to the features characteristic of EZB, these cases commonly, but do not always, harbour MYC translocations and DDX3X mutations.


undifferentiated round cell sarcoma

description: An undifferentiated soft tissue sarcoma characterized by the presence of uniform round or ovoid malignant cells with a high nuclear to cytoplasmic ratio.


name: low density lipoprotein cholesterol, mild elevation of


name: polyneuropathy in collagen vascular disease


name: oocyte/zygote/embryo maturation arrest 20


name: conductive deafness-malformed external ear syndrome


cutaneous candidiasis

description: Candidiasis of the skin manifested as eczema-like lesions of the interdigital spaces, perleche, or chronic paronychia. (Dorland, 27th ed)


smooth muscle cancer

description: A malignant neoplasm arising from smooth muscle.


name: Pierre Robin syndrome-faciodigital anomaly syndrome

description: This syndrome is characterized by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints).Growth and mental development were normal.


name: hereditary thrombocytosis with transverse limb defect

description: Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly.


name: chorea, remitting, with nystagmus and cataract


Prata-Liberal-Goncalves syndrome

description: Acrodysplasia scoliosis is a rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984.


osteonecrosis of the jaw

description: An area of necrotic bone in the mandible or maxilla.


hereditary thermosensitive neuropathy

description: Hereditary thermosensitive neuropathy is a rare, demyelinating, hereditary motor and sensory neuropathy characterized by reversible episodes of ascending muscle weakness, paresthesias and areflexia triggered by a febrile episode, with or without pressure palsy.


description: Nonrhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata, a group of diseases in which the common characteristic is bone calcifications near joints from birth. Nonrhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission.


benign neoplasm of cornea

description: A benign neoplasm that involves the cornea.


name: vitreoretinopathy with phalangeal epiphyseal dysplasia


name: primary non-gestational choriocarcinoma of ovary

description: Primary non-gestational choriocarcinoma of ovary is a rare ovarian germ cell malignant tumor, arising from primordial germ cells, usually presenting with nausea, vomiting, abdominal pain, menstrual irregularities, and characterized by fast growth pattern, metastasis to lung, liver and brain and production of human chorionic gonadotrophin (hCG). It is apparently chemoresistant and has a worse prognosis than gestational choriocarcinoma and hence should be distinguished from the latter by DNA polymorphism.


description: Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported.


holoprosencephaly 8

description: A holoprosencephaly that has material basis in variation in the chromosome region 14q13.


description: Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis is an extremely rare congenital limb malformation syndrome, described in only 3 patients to date, and characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991.


name: theca steroid-producing cell malignant tumor of ovary, not further specified

description: Malignant steroid cell tumor of the ovary, not otherwise specified is a rare malignant sex cord stromal tumor of ovary of unknown histological lineage, occurring in adult women, characterized, in most cases, by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea) and, occasionally, Cushing syndrome.


congenital hematological disorder

description: A disorder of the blood that is present at birth.


prolactin producing pituitary tumor

description: An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces prolactin.


chronic canaliculitis

description: Chronic form of actinomycosis.


type 2 collagenopathy

description: Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene.


bullous systemic lupus erythematosus

description: A manifestation of systemic lupus erythematosus with a widespread vesiculobullous eruption.


diabetic encephalopathy

description: A brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes.


name: isolated ankyloblepharon filiforme adnatum

description: Isolated ankyloblepharon filiforme adnatum (AFA) is characterized by the presence of single or multiple thin bands of connective tissue between the upper and lower eyelids, preventing full opening of the eye. Several cases have been reported. It can occur sporadically or following an autosomal dominant transmission pattern. In some cases, AFA can be associated with other disorders, such as trisomy 18. The bands should be removed to avoid amblyopia and this can easily be performed in the neonatal period by cutting with tissue scissors.


Oguchi disease

description: Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness and the Mizuo-Nakamura phenomenon.


name: thalamic degeneration, symmetric infantile


name: mitochondrial complex 1 deficiency, nuclear type 3


name: respiratory underresponsiveness to hypoxia and hypercapnia


Lemierre syndrome

description: Lemierre syndrome is a rare, potentially lethal, oropharyngeal infectious disease occurring in immunocompetent adolescents and young adults that is mainly due to Fusobacterium necrophorum and that is characterized by septic thrombophlebitis of the internal jugular vein that leads to septic, usually pulmonary, embolism, associated with ENT (ear, nose, and throat) infection that manifests with fever, neck pain, and tonsillopharyngitis.


cervical disk degenerative disorder

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


name: ichthyosis, split hairs, and amino aciduria


name: hyperparathyroidism, neonatal self-limited primary, with hypercalciuria


sella turcica neoplasm

description: A benign or malignant neoplasm that occurs in sella turcica. Representative examples include craniopharyngioma and pituitary gland adenoma.


testicular dysgenesis syndrome

description: A syndrome comprising testicular germ cell cancer, cryptorchidism and some cases of hypospadias and male infertility with impaired development of the testis.


name: neonatal encephalopathy with non-epileptic myoclonus

description: A disorder characterized onset at birth of profound encephalopathy with hypotonia, Respiratory insufficiency central hypoventilation, a persistent suppression burst pattern of EEG background, and recurrent bouts of myoclonus that are not accompanied by epileptic discharges on electroencephalography. Evolution to pharmacoresistant seizures is common and continued profound global developmental delay.


name: non-saccular limited dorsal myeloschisis

description: A rare form of limited dorsal myeloschisis (LDM), characterized by a non saccular cutaneous stigmata (midline skin abnormality classically dimple, pit or sometimes angioma), the stalk is attached to this cutaneous stigmata. Fibroneural stalk varies in thickness and complexity.


name: autosomal recessive nonsyndromic congenital nuclear cataract


name: mitochondrial dna depletion syndrome 16B (neuroophthalmic type)


partial septate uterus

description: Partial septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which extends from the uterine fundus and does not reach the internal cervical os (variable lengths and widths may be observed). Although frequently asymptomatic, an increased risk of poor reproductive outcome has been observed. Urinary tract abnormalities are very rarely associated.


premenstrual tension

description: A combination of distressing physical, psychologic, or behavioral changes that occur during the luteal phase of the menstrual cycle. Symptoms of pms are diverse (such as pain, water-retention, anxiety, cravings, and depression) and they diminish markedly 2 or 3 days after the initiation of menses.


bullous pyoderma gangrenosum

description: A rare subtype of pyoderma gangrenosum disease characterized by grouped vesicles that rapidly spread and coalesce to form large bullae, which evolve into ulcerations that have an erythematous peripheral halo and central necrosis, mainly affecting the upper limbs and face. Lymphoproliferative diseases are frequently associated, thus prognosis is often compromised.


Waardenburg syndrome type 2C

description: A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has material basis in variation in the chromosome region 8p23.


posteroinferior myocardial infarction

description: An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the posteroinferior wall of the heart.


name: atypical childhood epilepsy with centrotemporal spikes

description: A childhood-onset epilepsy that is characterized by frequent seizures of multiple types, including nocturnal focal motor and fronto-parietal opercular seizures, and daytime focal motor seizures with negative myoclonus and atypical absence seizures. Centrotemporal sharp waves are seen on EEG. During the phase of the epilepsy when seizures are frequent, neuropsychological deficits and motor impairment may be present. These deficits improve when seizures remit.


legionellosis

description: Any disease caused by Legionella bacteria.


name: mitochondrial complex 1 deficiency, nuclear type 5


name: deafness, unilateral, with delayed endolymphatic hydrops


cleidorhizomelic syndrome

description: Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988.


juvenile chronic polyarthritis

description: A group of conditions used to describe polyarthritis occurring in children.


seminal vesicle chronic gonorrhea

description: Chronic form of gonococcal seminal vesiculitis.


non-autoimmune hemolytic anemia

description: Hemolytic anemia that is not mediated by immune mechanisms.


Emanuel syndrome

description: Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities.


description: 2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria.


tuberous sclerosis

description: Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade.


syndromic intellectual disability

description: A intellectual disability that is part of a larger syndrome.


name: hyperuricemic nephropathy, familial juvenile type 3


haemophilus infectious disease

description: Infections with bacteria of the genus haemophilus.


third cranial nerve disorder

description: A disease involving the oculomotor nerve.


name: melanoma and neural system tumor syndrome

description: Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma).


pulpitis

description: Inflammation of the dental pulp.


name: frontotemporal dementia and/or amyotrophic lateral sclerosis 5


name: facial dysmorphism, cleft palate, hearing loss, and camptodactyly


name: neurofibromatosis type 1 due to NF1 mutation or intragenic deletion


Flinders island spotted fever

description: A spotted fever that has material basis in Rickettsia honei, which is transmitted by cayenne ticks (Amblyomma cajennense). The infection has symptom mild spotted fever, has symptom eschar and has symptom adenopathy.


name: epilepsy, photogenic, with spastic diplegia and intellectual disability


toxocariasis

description: A parasitic infection caused by worms found in domestic animals. In humans nematode larvae enter the portal system from the small intestine and disseminate in visceral organs causing inflammatory reactions. Signs and symptoms include eosinophilia, hepatomegaly, splenomegaly, and lung infections.


adult extraskeletal osteosarcoma

description: An osteosarcoma arising from the soft tissue, and occurring in adults.


name: lissencephaly type 3-familial fetal akinesia sequence syndrome

description: Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterized by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and fetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia.


name: holoprosencephaly, recurrent infections, and monocytosis


mild hemophilia B

description: Mild hemophilia B is a form of hemophilia B characterized by a small deficiency of factor IX leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.


severe cutaneous adverse reaction

description: A group of skin disorders including Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN), drug reaction with eosinophilia and systemic symptoms (DRESS), acute generalized exanthematous pustulosis (AGEP), and generalized bullous fixed drug eruptions (GBFDE).


name: microcephaly with lissencephaly and/or hydranencephaly

description: A brain disorder caused by biallelic variants in NDE1 that is characterized by extreme microcephaly (typically head circumference of more than 10 standard deviations (SD) below the mean), profound motor and intellectual disability, spasticity, and incomplete cerebral formation. Radiologic studies demonstrate overt microcephaly with cortical dysgenesis ranging from simplification to pachygyria/lissencephaly to hydranencephaly. Agenesis of the corpus callosum as well as hypoplasia of the brainstem and cerebellum are typically present.


epiglottitis

description: Inflammation of the epiglottis.


new-onset refractory status epilepticus

description: New-onset refractory status epilepticus is an acute encephalopathy with inflammation-mediated status epilepticus characterized by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioral changes or hallucinations. Brain MRI abnormalities and abnormal findings in CSF, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences.


description: Paraneoplastic syndrome that involves the digestive system.


name: hydrops fetalis, nonimmune, with gracile bones and dysmorphic features


name: neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia


intermediate nemaline myopathy

description: Intermediate nemaline myopathy is a type of nemaline myopathy (NM) that shows features of typical NM in neonates with a more severe progression.


Alzheimer disease 13

description: An Alzheimer's disease that is characterized by an associated with variation in the region 1q21.


description: A subset of exercise-induced anaphylaxis in which symptoms develop if exertion takes place within a few hours of eating a specific food. In the case of food-dependent exercise-induced anaphylaxis, neither the food nor the exercise alone is enough to cause anaphylaxis.


labia minora cancer

description: A malignant neoplasm that affects the labia minora.


Pauci-immune glomerulonephritis

description: Pauci-immune glomerulonephritis (GN) is one of the most frequent causes of rapidly progressive GN (RPGN). It is characterized clinically by renal manifestations of RPGN (hematuria, hypertension) leading to renal failure within days or weeks, and may be associated with manifestations of systemic vasculitis (arthralgia, fever, seizures, mono neuritis and lung involvement). Pauci-immune GN is histologically characterized by focal necrotizing and crescentic GN, with mild or absent glomerular staining for immunoglobulin and complement by fluorescence microscopy, which may manifest either as part of a systemic small vessel vasculitis (including microscopic polyangiitis, granulomatosis with polyangiitis and eosinophilic granulomatosis with polyangiitis), or rarely as part of renal-limited vasculitis (RLV, idiopathic crescentic GN). Immunologic classification is based on the presence or absence of circulating anti-neutrophil cytoplasmic antibodies (ANCAs), namely pauci-immune-GN with ANCA and pauci-immune GN without ANCA.


lymphangitis

description: Inflammation of the lymphatic vessels.


name: Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation


aJCC grade 1 sarcoma

description: Cancer cells are given a score of 1 to 3, with 1 being assigned when they look similar to normal cells and 3 being used when the cancer cells look very abnormal. Certain types of sarcoma are given a higher score automatically. See also NCIt:C9419 (Synonym of AJCC G1 Sarcoma)


name: syndromic complex neurodevelopmental disorder

description: A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy), and also a distinctive pattern of other features including dysmorphisms and/or congenital malformations.


hyper-IgM syndrome type 4

description: A form of Hyper IgM syndrome which is a defect in class switch recombination downstream of the AICDA gene that does not impair somatic hypermutation.


name: monomorphic epitheliotropic intestinal T-cell lymphoma


severe ichthyosis vulgaris

description: An instance of ichthyosis vulgaris in which the disease presentation is severe in severity. Homozygous FLG mutation carriers often have more severe manifestations.


cerebral cortex disorder

description: A disease or disorder that involves the cerebral cortex.


canine lymphoma

description: A malignant lymphoproliferative disorder that affects dogs. It is characterized by the clonal proliferation of B- or T-lymphocytes in the lymph nodes, bone marrow, and/or extranodal sites.


name: myeloid and lymphoid neoplasms associated with FGFR1 abnormalities


name: acute inferolateral myocardial infarction


name: distal 7q11.23 microduplication syndrome

description: Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly characterized by a predominantly neuropsychiatric phenotype with a few dysmorphic characteristics. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported.


dermochondrocorneal dystrophy

description: Dermochondrocorneal dystrophy is characterized by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive.


name: neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities


nail-patella-like renal disease

description: A severe nephropathy characterized by renal dysfunction, proteinuria, edema and microscopic haematuria. It has been described in three brothers, two of which died from end-stage renal insufficiency.


ideomotor apraxia

description: A form of apraxia characterized by an acquired inability to carry out a complex motor activity despite the ability to mentally formulate the action. This condition has been attributed to a disruption of connections between the dominant parietal cortex and supplementary and premotor cortical regions in both hemispheres. (From Adams et al., Principles of Neurology, 6th ed, p57)


description: Finnish upper limb-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal to proximal limb muscle weakness and atrophy, with characteristic early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common.


PAPASH syndrome

description: A rare autoinflammatory syndrome characterized by a chronic-relapsing course of the combination of pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa (which, in addition to axillae and inguinal folds, can be observed on the face, neck, scalp, back, and buttocks, among others). Typical age of onset is adolescence to young adulthood, with the different signs and symptoms appearing simultaneously or subsequently.


name: breast cancer, familial, susceptibility to, 2


preaxial polydactyly of fingers

description: Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers. Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity.


electroclinical syndrome

description: An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep.


name: familial hyperreninemic hypoaldosteronism type 2


tabes dorsalis

description: A form of neurosyphilis characterized by slowly progressive degeneration of the spinal cord. Signs and symptoms include pain, ataxia, loss of coordination, personality changes, blindness, urinary incontinence, dementia, and degeneration of the joints.


name: mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)


TOPORS-related retinopathy

description: Any retinopathy caused by a variant in the TOPORS gene.


central nervous system tuberculosis

description: A well-circumscribed mass composed of tuberculous granulation tissue that may occur in the cerebral hemispheres, cerebellum, brain stem, or perimeningeal spaces. Multiple lesions are quite common. Management of intracranial manifestations vary with lesion site. Intracranial tuberculomas may be associated with seizures, focal neurologic deficits, and intracranial hypertension. Spinal cord tuberculomas may be associated with localized or radicular pain, weakness, sensory loss, and incontinence. Tuberculomas may arise as opportunistic infections, but also occur in immunocompetent individuals.


canine nephroblastoma

description: A nephroblastoma occurring in a dog.


submandibular gland neoplasm

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


name: twin-reversed arterial perfusion sequence


name: acute generalized exanthematous pustulosis

description: A widespread acute rash characterized by fever and multiple small pustules on a reddish background.


name: pronation-supination of the forearm, impairment of


laryngeal leiomyoma

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


mosaic trisomy 2

description: Mosaic trisomy 2 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intrauterine growth restriction, growth and motor delay, craniofacial dysmorphism (e.g. microcephaly, hypertelorism, micro/anophthalmia, midface hypoplasia, cleft lip/palate), congenital heart and neural tube defects, as well as various skeletal (e.g. scoliosis, radioulnar hypoplasia, preaxial polydactyly) and gastrointestinal (e.g. intestinal malrotation, Hirschsprung disease) anomalies. Central nervous system malformations (including ventriculomegaly, thin corpus callosum, spina bifida) have also been reported.


herpetic vulvovaginitis

description: Infection of the vulva and the vagina caused by herpes simplex virus.


name: alopecia universalis congenita, 10Y gonadal dysgenesis, and laryngomalacia


description: Any disease that presents as a mucopolysaccharidosis or mucopolysaccharidosis-like disorder.


description: Isolated sternocostoclavicular hyperostosis is a rare rheumatologic disease characterized by predominantly bilateral, chronic, sterile inflammation and progressive sclerosis and hyperostosis of the sternocostoclavicular joint, with adjacent soft tissue ossification, in the absence of other joint involvement. It presents as recurrent episodes of pain, edema and/or erythema of the sternoclavicular region. Palmoplantar pustulosis may be additionally observed in some cases.


name: epilepsy, early-onset, 3, with or without developmental delay


heart conduction disease

description: A disease that has its basis in the disruption of the heart's electrical conduction system.


mosaic trisomy 10

description: Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (incl. prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually occurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia.


name: congenital heart defects, multiple types, 9


cerebral arteritis

description: An inflammatory disease involving a pathogenic inflammatory response in the cerebral artery.


name: hypouricemia, hypercalcinuria, and decreased bone density


name: polydactyly of a biphalangeal thumb, bilateral


typical nemaline myopathy

description: Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM) characterized by facial and skeletal muscle weakness and mild respiratory involvement.


spondylosis

description: A degenerative spinal disease that can involve any part of the vertebra, the intervertebral disk, and the surrounding soft tissue.


myositis fibrosa

description: A form of myositis that is characterized by the formation of connective tissue within the muscle.


cerebellar vermis medulloblastoma

description: A medulloblastoma arising from the vermis of the cerebellum.


cerebral toxoplasmosis

description: Infections of the brain caused by the protozoan toxoplasma gondii that primarily arise in individuals with immunologic deficiency syndromes (see also aids-related opportunistic infections). The infection may involve the brain diffusely or form discrete abscesses. Clinical manifestations include seizures, altered mentation, headache, focal neurologic deficits, and intracranial hypertension. (From Joynt, Clinical Neurology, 1998, Ch27, pp41-3)


nonobstructive coronary artery disease

description: A coronary artery disease that is characterized by atherosclerotic plaque that would not be expected to obstruct blood flow or result in anginal symptoms and stenosis of coronary artery less than 50 percent.


name: mitochondrial complex I deficiency, nuclear type 39


atypical hypotonia-cystinuria syndrome

description: A form of hypotonia-cystinuria syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalized hypotonia, poor feeding, growth retardation, and minor facial dysmorphism).


name: autosomal recessive degenerative and progressive cerebellar ataxia


name: complex neurodevelopmental disorder with or without congenital anomalies

description: A complex neurodevelopmental disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy), in addition to one or more structural or functional anomaly(ies) that develops prenatally.


name: drug-induced autoimmune hemolytic anemia

description: Drug-induced autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA) that occurs as a reaction to therapeutic drugs, and can be due to various mechanisms.


name: syndrome caused by partial chromosomal duplication

description: A chromosomal disorder consisting of the presence of a part of a chromosome in more copies than in a regular genome.


late-onset isolated ACTH deficiency

description: Late-onset isolated ACTH deficiency is a rare, acquired, pituitary hormone deficiency characterized by secondary adrenal insufficiency, with normal secretion of anterior pituitary hormones, except for ACTH. Patients present with weakness, fatigue, weight loss, anorexia, vomiting/nausea, hypoglycemia, and abnormally low serum ACTH and cortisol levels. Association with autoimmune disease such as Hashimoto's thyroiditis has been described.


ciguatera fish poisoning

description: Poisoning caused by ingestion of seafood containing microgram levels of ciguatoxins. The poisoning is characterized by gastrointestinal, neurological and cardiovascular disturbances.


name: peroxisome biogenesis disorder, complementation group 2


retained medullary cord

description: A rare closed dysraphism with terminal stalk characterized by persistent rudimentary spinal cord below conus. It contains non-functional neural tissue and is typically isolated. The diagnostic is suggested by attenuated conus without fat, further confirmed by pathological analysis (glioneuronal core with ependyma-lined lumen, nerve roots, and dorsal root ganglia). Differential diagnostic with intraoperative neurophysiological monitoring is mandatory as neuroimaging fails to distinguish it from functional conus.


name: absent tibia-polydactyly-arachnoid cyst syndrome

description: Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia.


name: portal vein, cavernous transformation of


name: acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)

description: Acute myelomonocytic leukemia (AMML) is a cancer that typically develops in the bone marrow and blood of older individuals.AMML is one type of acute myeloid leukemia, a group of blood cancers that occur when the amount of white blood cells increases rapidly. Symptoms of AMML often include fatigue (due to anemia) or easy bruising or bleeding (due to thrombocytopenia). The cause of AMML is currently unknown. Treatment typically consists of chemotherapy.


name: glycogen storage disease due to lactate dehydrogenase deficiency


name: inherited lipoic acid biosynthesis defect

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


name: intellectual developmental disorder, autosomal dominant 68


name: autosomal recessive metabolic cerebellar ataxia


peripheral epithelioid sarcoma

description: An epithelioid sarcoma involving the extremities. It usually presents as nodular masses in the dermis and subcutaneous tissues or in the tendons and fascia. It frequently recurs and metastasizes to other anatomic sites. The most common sites of metastasis are the lungs, lymph nodes, bones, and brain.


acute dacryocystitis

description: Acute form of dacryocystitis.


retinitis pigmentosa 63

description: A retinitis pigmentosa that has material basis in variation in the chromosome region 6q23.


name: intellectual developmental disorder, autosomal dominant 63, with macrocephaly


Laubry-Pezzi syndrome

description: Laubry-Pezzi syndrome is a rare, non-syndromic, congenital heart malformation characterized by the prolapse of an aortic valve cusp into a subjacent ventricular septal defect due to Venturi effect, resulting in aortic regurgitation. Patients typically present with symptoms of progressive aortic valve insufficiency, such as shortness of breath, heart palpitations, chest pain and exercise intolerance.


Klebsiella infectious disease

description: Infections with bacteria of the genus KLEBSIELLA.


cold agglutinin disease

description: Cold agglutinin disease is a type of autoimmune hemolytic anemia defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30B0C).


hand, foot and mouth disease

description: A clinical syndrome that is usually caused by enterovirus infection, and that is characterized by fever, anorexia, and painful sores in the mouth, distal extremities, and/or other sites, including the buttocks.


name: hyper-IgE recurrent infection syndrome 3, autosomal recessive


name: blindness - scoliosis - arachnodactyly syndrome

description: This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes.


tungiasis

description: An disease or disorder caused by infection with Tunga penetrans.


name: multiple pterygium-malignant hyperthermia syndrome

description: Malignant hyperthermia-arthrogryposis-torticollisis an extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988.


osteoarthritis, hand

description: Osteoarthritis of the hands usually happens as part of nodal osteoarthritis (a form of osteoarthritis that runs in families). This mainly affects women and often starts in your 40s or 50s, around the menopause (the time when menstruation ends and it’s no longer possible to have children).


description: Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit.


name: autosomal dominant spastic paraplegia type 9

description: Any autosomal dominant complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene.


ureter tuberculosis

description: A tuberculosis that involves the ureter.


ACTH-producing pituitary gland neoplasm

description: An adenoma or carcinoma of the pituitary gland that produces corticotropin.


lymphocytic choriomeningitis

description: A form of meningitis caused by lymphocytic choriomeningitis virus. mice and other rodents serve as the natural hosts, and infection in humans usually occurs through inhalation or ingestion of infectious particles. Clinical manifestations include an influenza-like syndrome followed by stiff neck, alterations of mentation, ataxia, and incontinence. Maternal infections may result in fetal malformations and injury, including neonatal hydrocephalus, aqueductal stenosis, chorioretinitis, and microcephaly. (From Joynt, Clinical Neurology, 1996, Ch26, pp1-3)


Cogan syndrome

description: Cogan syndrome (CS) is a rare autoimmune disorder of unknown origin characterized by inflammatory ocular disease (mainly interstitial keratitis) and vestibulo-auditory manifestations (mainly acute onset hearing loss, tinnitus and vertigo), in the setting of a negative work-up for syphilis, with a variable risk of developing into a systemic disease. Systemic manifestations may occur in more than 70% of cases.


pericardium disorder

description: A disease involving the pericardium.


name: neurodegeneration and seizures due to copper transport defect


testicular thecoma

description: A rare benign tumor that arises from the testis and is characterized by the presence of lipid-rich neoplastic spindle cells.


myxosarcoma

description: An infiltrating malignant soft tissue neoplasm characterized by the presence of immature undifferentiated cells and abundant myxoid stroma formation.


name: muscular dystrophy, limb-girdle, autosomal recessive 28


name: corneal dystrophy, punctiform and polychromatic pre-descemet


name: diffuse large B-cell lymphoma with chronic inflammation

description: Diffuse large B-cell lymphoma with chronic inflammation is an Epstein-Barr virus-associated malignant lymphoproliferative disorder, developing in a context of long-standing or slow-growing, chronically inflamed lesions, such as chronic pyothorax, metallic implants in bones and joints, chronic osteomyelitis, chronic venous ulcer, or, rarely granulomatous inflammation. The tumor is usually primarily localized, with no involvement of other organs.


septal myocardial infarction

description: A myocardial infarction (disease) that involves the cardiac septum.


name: xeroderma pigmentosum, type F/Cockayne syndrome


retinitis pigmentosa 22

description: A retinitis pigmentosa that has material basis in variation in the chromosome region 16p12.3-p12.1.


cardiogenetic disease

description: A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the cardiovascular system.


Rh isoimmunization

description: The mother develops antibodies against red blood cell Rhesus antigens. This may lead to potential fetal adverse outcomes such as anemia.


Worster-Drought syndrome

description: Worster-Drought syndrome (WDS) is a form of cerebral palsy characterized by congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking.


name: thrombocytopenia with congenital dyserythropoietic anemia

description: Thrombocytopenia with congenital dyserythropoietic anemia (CDA) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia.


name: developmental and epileptic encephalopathy, 75


name: partial deletion of the long arm of chromosome 15


benign neoplasm of oral cavity

description: A benign neoplasm that involves the oral cavity.


retinal nerve fiber layer disorder

description: A disease that involves the nerve fiber layer of retina.


thymus gland disorder

description: A non-neoplastic or neoplastic disorder that affects the thymus. Representative examples include thymic hyperplasia, thymoma, and thymic carcinoma.


name: microcephaly 27, primary, autosomal dominant


chronic prostatitis

description: An infectious or non-infectious chronic inflammatory process that affects the prostate gland.


name: inborn disorder of neurotransmitter metabolism and transport


description: An extremely rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. An X-linked recessive inheritance has been suggested.


name: acute myeloid leukemia, RUNX1 gene mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly RUNX1 gene mutation. (A change in the nucleotide sequence of the RUNX1 gene.)


Goodman syndrome

description: Goodman syndrome is an extremely rare genetic disorder characterized by marked malformations of the head and face (essentially acrocephaly), abnormalities of the hands and feet (polydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), and congenital heart disease. There have been no further descriptions in the literature since 1979. Goodman syndrome could be a variant of Carpenter syndrome.


name: Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect


tumor of meninges

description: A benign or malignant neoplasm that affects the meninges. The majority of the neoplasms arise from meningothelial cells and are called meningiomas. Non-meningothelial cell neoplasms include mesenchymal, non-meningothelial tumors, hemangiopericytomas, and melanocytic lesions.


tetrasomy 9p

description: Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia, epicanthus, strabismus), cleft lip/palate, skeletal abnormalities (hypoplastic nails/distal phalanges, short stature, short neck, contractures), congenital heart defects, renal and urogenital malformations (renal hypoplasia, genital hypoplasia, cryptorchidism).


name: dementia/parkinsonism with non-Alzheimer amyloid plaques


Richards-Rundle syndrome

description: Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria.


pregnancy, cornual

description: An abnormal pregnancy in which the conception is implanted and develops in the cornu of uterus.


name: secretory diarrhea, myopathy, and deafness


articular cartilage disorder

description: A disease involving the articular cartilage of joint.


name: cataract-aberrant oral frenula-growth delay syndrome

description: Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait.


lupus vulgaris

description: A form of cutaneous tuberculosis. It is seen predominantly in women and typically involves the nasal mucosa; buccal mucosa; and conjunctival mucosa.


digenic hemochromatosis

description: A rare subtype of hemochromatosis characterized by the combination of pathogenic variants in two genes involved in iron metabolism (usually a combination of HFE and non-HFE mutations), where the classical HFE-related hemochromatosis is not enough to fully explain the clinical picture of the patient.


name: mitochondrial complex 4 deficiency, nuclear type 4


inherited isolated nail anomaly

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


giant cell tumor of soft tissue

description: A painless, well circumscribed tumor arising in soft tissue, usually of the upper and lower extremities. Morphologically, it is characterized by a multinodular growth pattern. The cellular infiltrate is composed of mononuclear round or oval cells and multinucleated osteoclast-like giant cells, in a rich vascular stroma. It rarely metastasizes.


iron poisoning

description: A heavy metal poisoning that is caused by exposure to iron. Iron toxicity is classified as corrosive or cellular. Ingested iron can cause direct caustic injury to the gastrointestinal mucosa, resulting in nausea, vomiting, abdominal pain, and diarrhea.


name: neuromyelitis optica spectrum disorder with anti-AQP4 antibodies


PPP2R1A-related intellectual disability

description: Any intellectual disability in which the cause of the disease is a mutation in the PPP2R1A gene.


ovarian remnant syndrome

description: Ovarian remnant syndrome (ORS) is characterized by the presence of residual ovarian tissue after a woman has had surgery to remove one ovary or both ovaries (oophorectomy). Signs and symptoms may include pelvic pain, a pelvic mass, or the absence of menopause after oophorectomy. The condition may be caused by surgical factors leading to incomplete removal of ovarian tissue, including factors that limit surgical exposure of the ovary or compromise surgical technique. Factors may include pelvic adhesions (limiting ability to see the ovary or causing it to adhere to other tissues); anatomic variations; bleeding during surgery; or poor surgical technique. Treatment is indicated for people with symptoms and typically involves surgery to remove the residual tissue. Therapy for those who refuse surgery, cannot have surgery, or do not have a pelvic mass may include hormonal therapy to suppress ovarian function.


name: myopathy with storage of glycoproteins and Glycosaminoglycans


name: syndromic X-linked intellectual disability 12

description: X-linked intellectual disability, Wilson type is characterized by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localized to the 11p region of the X chromosome.


name: neurodevelopmental disorder with absent language and variable seizures


infectious anterior uveitis

description: An infectious disease involving a pathogenic inflammatory response in the anterior uvea.


tracheal cancer

description: A malignant neoplasm involving the trachea


tracheal agenesis

description: Tracheal agenesis (TA) is a rare congenital malformation in which the trachea may be completely absent (agenesis), or partially in place but underdeveloped (atresia). In both cases, proximal-distal communication between the larynx and the alveoli of the lungs is lacking.


name: dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability


Rocky mountain spotted fever

description: Rocky Mountain spotted fever refers to an infection caused by the bacterium Rickettsia rickettsia. This particular bacterium is carried by certain species of ticks and spread to humans through the bites of infected ticks. Signs and symptoms of the condition generally develop approximately 2 to 14 days following the tick bite and may include fever, rash, headache, muscle pain, chills, and/or confusion. Some affected people may also experience diarrhea, nausea, vomiting, light sensitivity, hallucinations, and/or excessive thirst. Most cases occur in the spring and summer and are found in children. Risk factors for developing the conditioninclude recent hiking or exposure to ticks in an area where the disease is known to occur. Rocky Mountain spotted fever is typically treated with antibiotics (such as doxycycline or tetracycline).


fetal akinesia deformation sequence 4

description: Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the NUP88 gene.


sexual and gender identity disorders

description: A category of psychiatric disorders characterized by a disturbance in sexual desire and in the psychophysiological changes that make up the sexual response cycle.


ACD-related short telomere syndrome

description: A spectrum of conditions, including dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome, hereditary aplastic anemia, and pulmonary fibrosis, typically characterized by shortened telomeres due to a pathogenic variant(s) in ACD that results in impaired telomere maintenance.


name: skeletal dysplasia, rhizomelic, with retinitis pigmentosa


pheochromocytoma-paraganglioma

description: A rare neuroendocrine tumor arising from chromaffin cells of the adrenal medulla (pheochromocytoma) or from sympathetic and parasympathetic ganglia (paraganglioma). These tumors are most often benign and may produce catecholamines in excess causing hypertension and sometimes severe acute cardiovascular complications.


name: pancreatitis, sclerosing cholangitis, and sicca complex


vulvar benign neoplasm

description: A non-metastasizing neoplasm that arises from the vulva. Representative examples include cellular angiofibroma, melanocytic nevus, nodular hidradenoma, and Bartholin gland adenoma.


name: hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial


ischemic fasciitis

description: A reactive, painless lesion which is characterized by a pseudosarcomatous proliferation of fibroblasts and myofibroblasts usually in the deep subcutaneous tissue. It occurs mainly around the limb girdles, sacral region, and greater trochanter. It affects mainly elderly patients and sometimes is associated with physical immobility. Local excision is usually curative.


name: intellectual developmental disorder, autosomal dominant 67


dicrocoeliasis

description: Infection with flukes of the genus Dicrocoelium.


retroperitoneal germ cell neoplasm

description: A germ cell tumor that involves the retroperitoneal space.


disorder of extraembryonic membrane

description: A disease or disorder that involves the extraembryonic membrane.


periocular meningioma

description: A meningioma that affects the periocular region.


white fibrous papulosis of the neck

description: White fibrous papulosis of the neck (WFPN) is a rare, acquired, dermal elastic tissue disorder characterized by multiple, 2-3 mm sized, non-confluent, asymptomatic, white or pale-colored, non-follicular, firm papular lesions occurring predominantly on the lateral or posterior aspects of the neck. Other, rarely reported sites include inferior axillae, central mid-back and upper sternal region.


name: combined immunodeficiency due to CRAC channel dysfunction

description: A form of combined immunodeficiency characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. It comprises two sub-types that are due to mutations in the ORAI1 and STIM1 genes: CID due to ORAI1 deficiency and CID due to STIM1 deficiency.


distal trisomy 2p

description: Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterized by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (incl. high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies.


myxoid chondrosarcoma

description: A chondrosarcoma characterized by the presence of myxoid changes.


name: developmental and epileptic encephalopathy 103


name: disorder of defective peroxisomal and mitochondrial fission

description: A disease that has its basis in the disruption of peroxisome and mitochondrial fission.


name: primary non-essential cutis verticis gyrata


T-cell and NK-cell neoplasm

description: A group of neoplasms composed of T-lymphocytes and/or NK-cells.


name: extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor

description: A spectrum of malignant tumors arising from the soft tissues, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms.


description: The association of amelogenesis imperfecta and a microscopically typical hair dysplasia has been found in several members of a family in two generations. Transmission is X-linked.


pertussis

description: A contagious bacterial respiratory infection caused by Bordetella pertussis. It is characterized by severe and uncontrollable cough, resulting in a whooping sound during breathing following the cough.


palindromic rheumatism

description: A syndrome that involves sudden and rapidly developing attacks of arthritis with a remission period that results in no joint damage or symptoms.


anterolateral myocardial infarction

description: Myocardial infarction in which the anterior wall of the heart is involved. Anterior wall myocardial infarction is often caused by occlusion of the left anterior descending coronary artery. It can be categorized as anteroseptal or anterolateral wall myocardial infarction.


name: cystic malformation of the posterior fossa


description: Hydrocephalus-blue sclera-nephropathy syndrome is a rare, genetic, renal or urinary tract malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978.


name: mitochondrial complex 1 deficiency, nuclear type 35


name: 46,XX disorder of sex development-skeletal anomalies syndrome


MAK-related retinopathy

description: Any retinopathy caused by variants in the MAK gene.


name: acute megakaryoblastic leukemia without down syndrome


conjunctival pigmentation

description: Pigmented lesions that arise from the conjunctiva include nevus, complexion-associated melanosis (CAM), primary acquired melanosis (PAM), and malignant melanoma.1,2All of these lesions arise from melanocytes. However, a number of other lesions have a similar appearance but a different source, such as pigment deposits from silver and iron.


name: mitochondrial complex 1 deficiency, nuclear type 17


name: colonic varices without portal hypertension


Good syndrome

description: Good syndrome, also known as thymoma-immunodeficiency, is a very rare acquired immunodeficiency syndrome characterized by the association of thymoma and combined B-cell and T-cell immunodeficiency of adult onset with increased susceptibility to infections.


focal facial dermal dysplasia type I

description: Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD) characterized by congenital bitemporal cutis aplasia.


name: melanoma, cutaneous malignant, susceptibility to, 1


name: paternal 14q32.2 hypomethylation syndrome


congenital lethal erythroderma

description: A rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992.


name: autoimmune disorder of cardiovascular system

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


name: fatal post-viral neurodegenerative disorder


laryngotracheitis

description: An inflammation of both larynx and trachea.


name: auditory neuropathy, autosomal dominant 3


name: polyarticular juvenile idiopathic arthritis


Kyasanur forest disease

description: Kyasanura forest disease (KFD), caused by the KFD virus, is an arbovirus characterized by an initial fever, headache and myalgia that can progress to a hemorrhagic disease and that in some cases is followed by a second phase characterized by neurological manifestations.


name: intellectual developmental disorder, X-linked 111


spinal muscular atrophy type 0

description: A childhood spinal muscular atrophy that is evident before birth and characterized by diminished movement in the womb, joint deformities, extremely weak muscle tone and very weak respiratory muscles.


name: intellectual developmental disorder with dysmorphic facies and behavioral abnormalities


name: genitourinary and/or brain malformation syndrome


vibrio infectious disease

description: Infections with bacteria of the genus vibrio.


name: spondyloepiphyseal dysplasia with punctate corneal dystrophy


name: congenital insensitivity to pain with severe intellectual disability


synucleinopathy

description: A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibers or glial cells. [url:http://en.wikipedia.org/wiki/Synucleinopathies ]


heart defects-limb shortening syndrome

description: Heart defects limb shortening is an association disorder combining congenital heart malformation and skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs). It has been described only once in the literature, in two male sibs from Kuwaiti first-cousins. The clinical and radiological features of these patients were reported as a distinct cardioskeletal syndrome.


femur-fibula-ulna complex

description: Femur-fibula-ulna (FFU) complex is a non-lethal congenital anomaly of unknown etiology, more frequently reported in males than females, characterized by a highly variable combination of defects of the femur, fibula, and/or ulna, with striking asymmetry, including absence of the proximal part of the femur, absence of the fibula and malformation of the ulnar side of the upper limb. Axial skeleton, internal organs and intellectual function are usually normal.


lymph node palisaded myofibroblastoma

description: A myofibroblastoma arising from the inguinal lymph nodes. It is characterized by the presence of nuclear palisading.


name: familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome


non-distal trisomy 9q

description: Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported.


malignant testicular Leydig cell tumor

description: A Leydig cell tumor characterized by a large size, cellular atypia, high mitotic activity, vascular invasion and necrotic changes. The prognosis is usually poor.


gonosome anomaly

description: Chromosomal disorder in which the chromosomal anomaly involves an gonosome. A gonosome is a chromosome responsible for sex determination. In humans and most animals, the sex chromosomes are designated X and Y.


pancreatic cancer, susceptibility to, 3

description: Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALB2 gene.


hyperparathyroidism, transient neonatal

description: Hyperparathyroidism in an infant less than one month of age that resolves spontaneously.


name: limb transversal defect-cardiac anomaly syndrome


name: autosomal recessive Ehlers-Danlos syndrome, vascular type

description: The rare autosomal recessive form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported.


name: precursor B-cell acute lymphoblastic leukemia

description: The most frequent type of acute lymphoblastic leukemia. Approximately 75% of cases occur in children under six years of age. This is a good prognosis leukemia. In the pediatric age group the complete remission rate is approximately 95% and the disease free survival rate is 70%. Approximately 80% of children appear to be cured. In the adult age group the complete remission rate is 60-85%. (WHO, 2001)


neonatal dacryocystitis

description: Inflammation of the lacrimal sac in a newborn due to blocked drainage of tears or infection.


name: proteasome-associated autoinflammatory syndrome 4


blue rubber bleb nevus

description: Blue rubber bleb nevus (BRBNS) is a rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia.


name: adult familial nephronophthisis-spastic quadriparesia syndrome

description: This syndrome, associating familial adult medullary cystic disease with spastic quadriparesis has been described in two cases so far. Renal transplantation was successful in those two patients.


name: malignant mixed epithelial stromal tumor of the kidney

description: A mixed epithelial stromal tumor of the kidney with malignant stromal features.


name: non-syndromic bicoronal and metopic craniosynostosis


severe hypophosphatasia

description: Severe hypophosphatasia is a rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization. Individuals often present with these features in infancy or in the perinatal period.


name: familial adrenal hypoplasia with absent pituitary luteinizing hormone


name: leukemia, chronic lymphocytic, susceptibility to, 1


Escherichia coli meningitis

description: A form of gram-negative meningitis that tends to occur in neonates, in association with anatomical abnormalities (which feature communication between the meninges and cutaneous structures) or as opportunistic infections in association with immunologic deficiency syndromes. In premature neonates the clinical presentation may be limited to anorexia; vomiting; lethargy; or respiratory distress. Full-term infants may have as additional features fever; seizures; and bulging of the anterior fontanelle. (From Menkes, Textbook of Child Neurology, 5th ed, pp398-400)


name: immunodeficiency 72 with autoinflammation


round ligament malignant neoplasm

description: A malignant neoplasm involving the round ligament of uterus.


name: pruritic urticarial papules and plaques of pregnancy


familial isolated hyperparathyroidism

description: A rare, autosomal dominant hereditary syndrome characterized by hypercalcemia, abnormally high levels of parathyroid hormone, and isolated hyperfunctioning parathyroid tumors.


tuberculous epididymitis

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


name: midline malformations, multiple, with limb abnormalities and hypopituitarism


description: Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive.


pemphigoid gestationis

description: A rare pregnancy-associated autoimmune skin disease that is characterized by an itchy rash that develops into blisters. It is most common during the second and third trimesters of pregnancy. It was previously known as herpes gestationis although it has no association with the herpes virus whatsoever.


uterine ligament neoplasm

description: A benign, borderline, or malignant neoplasm that affects the uterine ligaments. Representative examples include Wolffian adnexal tumor, papillary cystadenoma, and adenocarcinoma.


aberrant subclavian artery

description: Aberrant subclavian artery is a rare vascular anomaly that is present from birth. It usually causes no symptoms and is oftendiscovered as an incidental finding (such as througha barium swallow or echocardiogram). Occasionally the anomaly causes swallowing difficulty (dysphagia lusoria). Swallowing symptoms in childrenmay present asfeeding difficulty and/or recurrent respiratory tract infection. When aberrant subclavian artery causes no symptoms, treatment is not needed. If the anomaly is causing significant symptoms, treatment may involve surgery. Children with symptomatic aberrant subclavian artery should be carefully evaluated for additional vascular and heart anomalies..


chromosome 6 disorder

description: Chromosomal disorder in which chromosome 6 is affected.


name: autosomal dominant nonsyndromic hearing loss 50

description: An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has material basis in mutation in the MIRN96 gene on chromosome 7q32.


subcutaneous tissue disorder

description: A disease involving the superficial fascia.


primary progressive freezing gait

description: Primary progressive freezing gait is a rare, heterogeneous, progressively incapacitating neurodegenerative disease characterized by freezing of gait (usually during the first 3 years), later associating postural instability, eventually resulting in a wheelchair-bound state. Other features may include mild bradykinesia, rigidity, postural tremor, hyperreflexia, speech disorder and dementia. The disease is unresponsive to dopaminergic treatments.


Alzheimer disease 17

description: An Alzheimer's disease that is characterized by an associated with mutations in the gene TREM2.


name: pyruvate carboxylase deficiency, severe neonatal type

description: Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy.


name: fibular aplasia, tibial campomelia, and oligosyndactyly syndrome


Liberfarb syndrome

description: A progressive disorder involving connective tissue, bone, retina, ear, and brain, characterized by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature.


name: 46,XX true hermaphroditism, SRY-positive


common variable immunodeficiency

description: Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria.


polyneuropathy-hand defect syndrome

description: Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986.


schizophrenia 5

description: A schizophrenia that has material basis in a mutation on chromosome 6q13-q26.


hypertrophic lichen planus

description: A form of lichen planus that is characterized by plaques of markedly thickened skin that is often extremely pruritic and localized to the lower legs. It can result in permanent pigmentation and scarring.


isolated delta-storage pool disease

description: Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate mucous/cutaneous hemorrhagic diathesis and bleeding complications after surgery.


mild pre-eclampsia

description: A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation.


Achilles bursitis

description: An bursitis involving a pathogenic inflammatory response in the calcaneal tendon.


name: microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2


name: myopathy with giant abnormal mitochondria


name: microcephaly with or without short stature

description: Primary microcephaly refers to the clinical finding of a head circumference more than than 3 standard deviations (SD) below the age- and sex-related mean, present at birth. Primary microcephaly is a static developmental anomaly, distinguished from secondary microcephaly, which refers to a progressive neurodegenerative condition. Microcephaly is a disorder of fetal brain growth; individuals with microcephaly have small brains and almost always have intellectual disability, although rare individuals with mild microcephaly (-3 SD) and normal intelligence have been reported. Additional clinical features may include short stature or mild seizures. These clinical features include Seckel syndrome, a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with intellectual disability.


Mansonella ozzardi infection

description: An infection that is caused by the organism Mansonella ozzardi.


methamphetamine dependence

description: A drug dependence that is a psychological dependency on the regular use of methamphetamine.


inferolateral myocardial infarct

description: An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the inferolateral wall of the heart.


parasitic eye infection

description: Mild to severe infections of the eye and its adjacent structures (adnexa) by adult or larval protozoan or metazoan parasites.


name: structural brain anomalies with impaired intellectual development and craniosynostosis


name: Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type


SATB2 associated disorder

description: A syndromic intellectual disability disorder that is characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Most distinctive features are neurodevelopmental with invariably severely limited speech, cleft or high arched palate, dental anomalies (crowding, macrodontia, abnormal shape), and behavioral issues with or without bone or brain anomalies.


name: TH-deficient infantile parkinsonism and motor delay

description: A tyrosine hydroxylase deficiency with onset typically between age three and 12 months. Motor milestones are overtly delayed in this severe form. Affected infants demonstrate truncal hypotonia and parkinsonian symptoms and signs (hypokinesia, rigidity of extremities, and/or tremor).


glioependymal/ependymal cyst

description: Glioependymal/ependymal cyst is a rare central nervous system malformation defined as a subarachnoid, supratentorial, interventricular or intraspinal, sometimes intracerebral or intramedullar cyst with an internal ependymal lining, possibly surrounded by glial tissue. It may be an incidental finding or may present at different ages with clinical features depending on its size and location. It may distort adjacent brain structures and cause macrocephaly, ventriculomegaly, hydrocephalus, focal neurological signs and other signs and symptoms. In some cases, it is associated with other cerebral malformations (e.g. corpus callosum agenesis, polymicrogyria, heterotopias).


viral meningitis

description: Inflammation of the membranes surrounding the brain and spinal cord due to a viral infection.


central nervous system leiomyoma

description: A benign smooth muscle neoplasm arising from the central nervous system. It is characterized by the presence of intersecting fascicles composed of spindle cells that often lack mitotic activity.


adenosarcoma

description: A low grade malignant neoplasm characterized by the presence of a benign epithelial component (tubular and cleft-like glands) and a low grade sarcomatous component that contains varying amounts of fibrous and smooth muscle tissues. In a minority of cases, the sarcomatous component contains heterologous elements including striated muscle, cartilage, and fat. It occurs in the uterine corpus, ovary, fallopian tube, cervix, and vagina. It may recur and in a minority of cases may metastasize to distant anatomic sites.


dependent personality disorder

description: A disorder characterized by an enduring pattern of an extreme need to be taken care of together with fear of separation that lead the individual to urgently seek out and submit to another person and allow that person to make decisions that impact all areas of the individual's life.


name: tremor of intention, ataxia, and lipofuscinosis


trichostasis spinulosa

description: Trichostasis spinulosa (TS) is a condition where instead of one hair protruding from a hair follicle, a bundle or bush of hair come out of a single follicle. This results in elevated, dark spiny papules on the head, face (usually the nose), and trunk. In this condition, there are numerous tiny open pores filled with multiple tiny short hairs, usually only visible with a magnifying glass. TS usually does not cause problems andmay only be noticed as an incidental finding. The exact cause is unknown.


mosaic trisomy 14

description: Mosaic trisomy 14 is a rare chromosomal disorder in which there are 3 copies (trisomy) of chromosome 14 in some cells of the body, while other cells have the usual two copies. The extent and severity of features in affected individuals can vary. Signs and symptoms that have been most commonly reported include intrauterine growth restriction ; failure to to thrive ; developmental delay; intellectual disability; distinctive facial characteristics; structural malformations of the heart; and other physical abnormalities. This condition is most often caused by an error in cell division in the egg or sperm cell before conception, or in fetal cells after fertilization. Treatment is directed toward the specific signs and symptoms in each individual.


name: neurodevelopmental disorder with or without variable brain abnormalities; NEDBA


bladder lymphoma

description: A lymphoma that involves the urinary bladder.


disorder of protein N-glycosylation

description: A disease that has its basis in the disruption of protein N-linked glycosylation.


partial lipodystrophy

description: Loss and redistribution of subcutaneous and/or visceral adipose tissue from specific regions of the body.


vector-borne disease

description: An infectious disease where a pathogen is carried and transmitted by another organism that acts as disease vector.