benign neoplasm of renal pelvis

description: A benign neoplasm that involves the renal pelvis.


classic pyoderma gangrenosum

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

description: A rare subtype of pyoderma gangrenosum disease characterized by rapidly progressive, single or multiple, painful, aseptic ulcers which present overhanging, violaceous and undermined borders, surrounding induration and erythema, and granulation tissue (occasionally necrotic tissue and/or a purulent exudate) at the base, mainly affecting the legs (but other body surfaces may also be involved), leading to chronic ulcerations and often regressing with cribriform mutilating scars. The disease presents a chronic relapsing course and systemic features (e.g. fever, malaise, arthralgia, myalgia) may be associated.


name: muscular dystrophy-dystroglycanopathy, type B


nephrogenic adenoma of the urethra

description: A metaplastic lesion of the urothelium found in the urethra. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi.


name: non-syndromic bicoronal and sagittal craniosynostosis


human papilloma virus infection

description: An infectious process caused by a human papillomavirus. This infection can cause abnormal tissue growth.


name: acute myeloid leukemia, t(15;17)(q24;q21)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(15;17)(q24;q21). (A chromosomal translocation associated with creation of a fusion between the PML and RARA genes. It is seen in variants of acute promyelocytic leukemia.)


name: partial deletion of the long arm of chromosome 7

description: Chromosome 7q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.


Wildervanck syndrome

description: Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly), bilateral abducens palsy with retracted eyes (Duane syndrome) and congenital perceptive deafness.


name: neurodevelopmental disorder with speech delay and variable ocular anomalies


name: pseudoxanthoma elasticum-like papillary dermal elastolysis

description: Pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-PDE) is a rare, acquired, idiopathic dermal tissue disorder characterized by numerous, asymptomatic, 2-3 mm, yellowish, non-follicular papules that tend to converge into cobblestone-like plaques which are distributed symmetrically over the posterior neck, supraclavicular region, axillae, and sometimes abdomen. Unlike PXE, these skin lesions show select elimination (absence or marked loss) of elastic fibers in the papillary dermis and there is no systemic involvement.


name: combined oxidative phosphorylation deficiency 22


hereditary spastic paraplegia 64

description: An extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1.


name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2

description: Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the SLC25A4 gene.


name: hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism

description: Any leukodystrophy in which the cause of the disease is a mutation in the POLR3B gene.


name: severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion


seizures, benign familial infantile, 5

description: Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN8A gene.


amyotrophic lateral sclerosis type 21

description: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the MATR3 gene.


oral submucous fibrosis

description: Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment.


toxin-mediated infectious botulism

description: Aform of botulism (see this term), a rare acquired neuromuscular junction disease, characterized by descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), produced in vivo leading to toxin-mediated infection. Infectious botulism includes wound botulism and intestinal toxemia botulism (infant botulism and adult intestinal botulism).


name: rhizomelic chondrodysplasia punctata type 2

description: Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the GNPAT gene.


name: secondary central precocious puberty in male


name: lethal arteriopathy syndrome due to fibulin-4 deficiency


isolated spina bifida

description: A spina bifida (disease) that is not part of a larger syndrome.


name: short stature, microcephaly, and endocrine dysfunction


name: autosomal dominant nonsyndromic hearing loss 64

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


name: proteasome-associated autoinflammatory syndrome 5


isolated congenital megalocornea

description: Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma.


name: furuncular myiasis due to Cordylobia anthropophaga


name: COG7-congenital disorder of glycosylation

description: COG7-CDG is a congenital disorder of glycosylation characterized by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.


histiocytic sarcoma

description: An aggressive malignant neoplasm with a poor response to therapy, usually presenting as stage III/IV disease. It is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes.


primary motor cortex epilepsy

description: A epilepsy that involves the primary motor cortex.


cone-rod dystrophy 17

description: A cone-rod dystrophy that has material basis in variation in the chromosome region 10q26.


name: intellectual disability-brachydactyly-Pierre Robin syndrome

description: Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness.


bone resorption disease

description: A disease that has its basis in the disruption of bone resorption. Bone resorption is a process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products.


name: partial deletion of the long arm of chromosome 16


hereditary lipodystrophy

description: An instance of lipodystrophy that is caused by an inherited genomic modification in an individual.


mastocytoma

description: A localized tumor composed of sheets of mast cells without atypia. It includes the cutaneous mastocytoma which involves the dermis and subcutaneous tissue, and the extracutaneous mastocytoma. Most cases of extracutaneous mastocytoma have been reported in the lung.


name: intellectual disability, autosomal dominant 34

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the COL4A3BP gene.


16p13.11 microduplication syndrome

description: 16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies.


apraxia

description: Apraxia is a neurological disorder characterized by the inability to perform tasks or movements, despite having the desire and physical ability to perform them. It is caused by damage to the brain, especially the parietal lobe, and can arise from many diseases, tumors, a stroke, or traumatic brain injury. In some cases it is present from birth. There are several types of apraxia, which may occur alone or together. These include: Buccofacial or orofacial apraxia is the inability to carry out facial movements on demand. This may include licking the lips, sticking out the tongue, whistling, coughing, or winking. Ideational apraxia is the inability to carryout learned, complex tasks with multiple, sequential movements. This may include dressing, eating, and bathing. Ideomotor apraxia is the inability to perform a learned task (such as using a tool) or communicate using gestures (like waving good-bye). Limb-kinetic apraxia is the inability to make fine, precise movements with an arm or leg. This may include buttoning a shirt or tying a shoe. Verbal apraxia is difficulty coordinating mouth and speech movements. Verbal apraxia may be acquired or present from birth. Constructional apraxia is the inability to copy, draw, or construct simple figures. Oculomotor apraxia is difficulty moving the eyes on command. Treatment of apraxia may include physical, speech, or occupational therapy. If apraxia occurs as a symptom of another disorder, treatment should be directed to the underlying condition.


venom allergy

description: An allergic disease involving venom.


name: primary tuberculosis of the digestive system


name: microcephaly 15, primary, autosomal recessive


Chandler syndrome

description: Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome, is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy.


medulloblastoma non-WNT/non-SHH group 3

description: A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by absent TP53 mutations and MYC amplifications that may be present.


name: malignant pleural solitary fibrous tumor

description: A malignant form of pleural solitary fibrous tumor.


neoplasm of neck

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


name: absence deformity of leg-cataract syndrome

description: Absence deformity of leg B cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed.


name: non-syndromic congenital bronchial atresia


arenavirus hemorrhagic fever

description: A viral infectious disease that involves fever and bleeding disorder caused by Arenavirus.


refeeding syndrome

description: Potentially fatal shifts in fluids and electrolytes that may occur in malnourished patients receiving artificial refeeding (whether enterally or parenterally).


disorder of protein O-glycosylation

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


name: autosomal dominant centronuclear myopathy

description: An inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.


name: spastic paraplegia 83, autosomal recessive


name: autosomal recessive humeroradial synostosis

description: Autosomal recessive form of humeroradial synostosis (disease).


primary ciliary dyskinesia 17

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC103 gene.


name: neuropathy, hereditary sensory and autonomic, type 1A

description: An axonal form of hereditary motor and sensory neuropathy distinguished by prominent early sensory loss and later positive sensory phenomena, caused by mutations in SPTLC1.


athyreotic congenital hypothyroidism

description: Congenital hypothyroidism in which fetal deficiency was severe because of complete absence (athyreosis) of the gland. Physical features may include a larger anterior fontanel, persistence of a posterior fontanel, an umbilical hernia, and a large tongue (macroglossia)


Leber congenital amaurosis 14

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


name: progressive encephalopathy with leukodystrophy due to DECR deficiency

description: Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop.


PrP systemic amyloidosis

description: Prion protein (PrP) systemic amyloidosis, previously known as chronic diarrhea with hereditary sensory and autonomic neuropathy is an extremely rare autosomal dominant disorder reported in three British families, a Japanese and an Italian family (about 16 cases in total). Onset is usually in the fourth decade of life and the course lasts about 20 years. Reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections. The disorder is caused by truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid.


benign neoplasm of sublingual gland

description: A benign neoplasm that involves the sublingual gland.


persistent placoid maculopathy

description: Persistent placoid maculopathy is characterized by white plaque-like lesions involving the macula but sparing the peripapillary areas of both eyes. It has been described in five patients. In contrast to patients with macular serpiginous choroiditis presenting with similar lesions, the five patients reported so far with persistent placoid maculopathy had good visual acuity until the onset of choroidal neovascularization (CNV) or pigmentary mottling. The macular lesions fade after several months or years, but the vascular anomalies persist leading to a loss of central vision.


atrial fibrillation, familial, 14

description: Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN2B gene.


ring chromosome 3

description: Ring chromosome 3 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by pre- and postnatal growth retardation, short stature, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features (incl. triangular face, dysplastic ears, upslanting palpebral fissures, epicanthic folds, broad nasal bridge, full nasal tip, long philtrum, downturned corners of the mouth, and micro/retrognathia). Additional manifestations reported include hypotonia, mild articular limitation, hearing loss, digital anomalies (i.e. clinodacytyly, brachydactyly), café-au-lait patches and hypospadias.


renal pelvis neoplasm

description: A neoplasm (disease) that involves the renal pelvis.


name: congenital heart defects, multiple types, 4

description: Any congenital heart defects, multiple types in which the cause of the disease is a mutation in the NR2F2 gene.


cerebral cavernous malformation 3

description: Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the PDCD10 gene.


chondroid hamartoma

description: A hamartoma that is characterized by the presence of chondroid elements.


LCA5-related retinopathy

description: A retinopathy caused by biallelic variants in the LCA5 gene.


mitochondrial DNA depletion syndrome 9

description: Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated.


name: spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3


name: Charcot-Marie-Tooth disease axonal type 2Q

description: Autosomal dominant Charcot-Marie-Tooth disease type 2Q is a rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment.


name: acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor

description: Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposid, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement.


name: intrinsic factor and r binder, combined congenital deficiency of


nephropathic infantile cystinosis

description: Nephropathic infantile cystinosis is the most common and severe form of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes.


name: developmental and epileptic encephalopathy, 64


focal segmental glomerulosclerosis 5

description: Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the INF2 gene.


Brucella melitensis brucellosis

description: A brucellosis that involves an infection caused by Brucella melitensis [NCBITaxon:29459] in cattle, goats, sheep and humans. The disease has symptom fever, has symptom malaise, has symptom anorexia, has symptom limb pain and has symptom back pain.


immunodeficiency 35

description: Any hereditary predisposition to infections in which the cause of the disease is a mutation in the TYK2 gene.


tooth agenesis, selective, 1

description: Any tooth agenesis in which the cause of the disease is a mutation in the MSX1 gene characterized by varying severity of tooth agenesis that may be seen in combination with orofacial clefting in some individuals.


benign uterine ligament neoplasm

description: A non-metastasizing neoplasm that arises from the uterine ligament.


name: idiopathic steroid-sensitive nephrotic syndrome with minimal change


name: developmental and epileptic encephalopathy, 66

description: An autosomal dominant form of early infantile epileptic encephalopathy, caused by mutation(s) in the PACS2 gene, encoding phosphofurin acidic cluster sorting protein 2.


name: immune reconstitution inflammatory syndrome

description: An inflammatory condition that arises after initiating antiretroviral therapy (ART) therapy in HIV-infected patients that results from restored immunity to specific infectious or non-infectious antigens.


name: periventricular heterotopia with microcephaly, autosomal recessive


chromosome 5q12 deletion syndrome

description: PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin.


connective tissue neoplasm

description: Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue.


name: central nervous system mesenchymal non-meningothelial tumor

description: A benign or malignant mesenchymal neoplasm originating in the central nervous system or the meninges and showing fibrous, fibrohistiocytic, adipose, myoid, endothelial, chondroid or osseous, but not meningothelial differentiation. Depending on the histological features and clinical behavior of these neoplasms, their grade ranges from benign (WHO grade I) to highly malignant (WHO grade IV). (Adapted from WHO)


hereditary spherocytosis type 1

description: Any hereditary spherocytosis in which the cause of the disease is a mutation in the ANK1 gene.


achromatopsia 4

description: Any achromatopsia in which the cause of the disease is a mutation in the GNAT2 gene.


name: inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation


name: osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome

description: Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome is characterized by osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two sibs born to consanguineous parents.


name: partial duplication of the short arm of chromosome 2

description: Chromosome 2p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 2. 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 2p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.


name: leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome

description: Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward.


name: familial cold autoinflammatory syndrome 3

description: A rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease.


Bazex-Dupre-Christol syndrome

description: Bazex-Dupre-Christol syndrome is a rare genodermatosis (hereditary skin disease) with a predisposition to early-onset basal cell carcinomas.


mesenteric varices

description: A varicose disease that involves the mesentery.


acute asthma

description: An asthma that is characterized by severe and sudden onset of increasing wheezing, airways closing, smooth muscle contraction, mucus plugging and lower airway edema that may be reversible upon treatment.


hemorrhagic fever-renal syndrome

description: Hemorrhagic fever with renal syndrome (HFRS) is a rodent-borne potentially severe hemorrhagic disease caused by Old World Hantaviruses characterized by high fever, malaise, headache, myalgia, arthralgia, backache, abdominal pain, oliguria/renal failure and systemic hemorrhagic manifestations.


childhood extraosseous osteosarcoma

description: An osteosarcoma arising from the soft tissue, and occurring during childhood.


syndromic recessive X-linked ichthyosis

description: Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI that are associated with extracutaneous manifestations as part of a syndrome.


epithelioid leiomyosarcoma

description: A morphologic variant of leiomyosarcoma characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm.


idiopathic pulmonary artery dilatation

description: Idiopathic pulmonary artery dilatation is a rare developmental defect during embryogenesis characterized by the dilatation of the main pulmonary artery, with or without dilatation of the right and left pulmonary artery branches, and not attributed to any other cardiac, pulmonary and/or arterial wall disease. It may present with exertional dyspnea, fatigue, cough, hemoptysis, palpitation and chest pain, but may also be asymptomatic. In serious cases, trachea constriction due to postural changes may lead to attacks of cyanosis with severe dyspnea. Sudden cardiac death has been reported in some cases.


name: oocyte/zygote/embryo maturation arrest 18


myotonia permanens

description: Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM).


thyroid lymphoma

description: A lymphoma primarily involving the thyroid gland.


cerebrooculofacioskeletal syndrome 2

description: Any COFS syndrome in which the cause of the disease is a mutation in the ERCC2 gene.


neuromuscular junction disease

description: Conditions characterized by impaired transmission of impulses at the neuromuscular junction. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or acetylcholinesterase activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions.


lichen amyloidosis

description: Lichen amyloidosis is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by the development of pruritic, often pigmented, hyperkeratotic papules on trunk and extremities, especially on the shins, and histologically by the deposition of amyloid or amyloid-like proteins in the papillary dermis.


name: neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures


name: complex cortical dysplasia with other brain malformations 6

description: Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB gene.


name: mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis

description: Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.


name: intellectual developmental disorder, autosomal recessive 74

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the APC2 gene.


name: hyperinsulinemic hypoglycemia, familial, 1

description: Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the ABCC8 gene.


name: developmental and epileptic encephalopathy, 6

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN1A gene.


name: spondylometaphyseal dysplasia, Sedaghatian type

description: Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.


hyperinsulinemic hypoglycemia

description: An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the pancreas and congenital hyperinsulinism. It is due to focal hyperplasia of pancreatic islet cells budding off from the ductal structures and forming new islets of langerhans. Mutations in the islet cells involve the potassium channel gene kcnj11 or the atp-binding cassette transporter gene abcc8, both on chromosome 11.


name: mitochondrial complex III deficiency nuclear type 2

description: Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the TTC19 gene.


name: metaphyseal dysplasia without hypotrichosis


viral hemorrhagic fever

description: A viral infectious disease caused by RNA viruses in the Arenaviridae, Bunyaviridae, Filoviridae, or Flaviviridae family, and characterized by a severe multisystem syndrome, with damage to the vascular system and hemorrhaging.


Cole-Carpenter syndrome 2

description: Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the SEC24D gene.


name: B-lymphoblastic leukemia/lymphoma with IL3-IGH

description: A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14, (q31.1;q32.3).


name: mitochondrial complex 4 deficiency, nuclear type 16


name: encephalopathy due to sulfite oxidase deficiency

description: Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation.


dihydropteridine reductase deficiency

description: Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties.


name: non-severe combined immunodeficiency due to COPG1 deficiency

description: Any non-severe combined immunodeficiency caused by a deficiency in the COPG1 gene.


cone-rod dystrophy 7

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the RIMS1 gene.


name: developmental and epileptic encephalopathy, 28

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the WWOX gene.


patterned macular dystrophy 2

description: Any patterned macular dystrophy in which the cause of the disease is a mutation in the CTNNA1 gene.


perceptual disorders

description: Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body.


name: developmental and epileptic encephalopathy 108


adenosine kinase deficiency

description: A rare inborn error of metabolism characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.


tuberculosis, spinal

description: Tuberculosis of the vertebrae.


Senior-Loken syndrome 4

description: Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP4 gene.


name: Hennekam lymphangiectasia-lymphedema syndrome 1

description: Any Hennekam syndrome in which the cause of the disease is a mutation in the CCBE1 gene.


congenital trigeminal anesthesia

description: Congenital trigeminal anesthesia is a rare neuro-ophtalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum).


acrofrontofacionasal dysostosis 2

description: A very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies.


vitelliform macular dystrophy 3

description: Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene.


name: famililal cerebral cavernous malformations

description: A rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages.


non-distal trisomy 10q

description: Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (incl. microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (e.g. iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (e.g. septal ventricular defect), anal atresia, and cryptorchidism.


dirofilariasis

description: Infection with nematodes of the genus dirofilaria, usually in animals, especially dogs, but occasionally in humans.


neuronal ceroid lipofuscinosis 1

description: A condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.


name: neurodevelopmental disorder with dysmorphic facies and distal limb anomalies


description: X-linked cone dysfunction syndrome with myopia is characterized by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28.


name: immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia


benign neoplasm of retina

description: A benign neoplasm that involves the retina.


name: glutathione synthetase deficiency with 5-oxoprolinuria


acquired thrombocytopenia

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


name: monocytopenia with susceptibility to infections


midbrain disorder

description: A disease or disorder that involves the midbrain.


name: infectious disorder of the nervous system

description: A infectious disease that involves the nervous system.


P5CS deficiency

description: An inborn error of proline/orinthine metabolism that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene. These variants lead to a variety of neurocutaneous and motor syndromes characterized by cutis laxa, connective tissue weakness, facial dysmorphism, growth restriction, developmental delay, cataracts, hypotonia, hypertonia, and amyotrophy.


frontal lobe neoplasm

description: A neoplasm involving a frontal lobe.


name: autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

description: A somatic mutation in the CTLA4 gene resulting in only a single functional gene. Haploinsufficiency for CTLA4 is associated with autoimmune lymphoproliferative syndrome, type V.


Goldmann-Favre syndrome

description: A vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis).


spinocerebellar ataxia type 12

description: Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported.


name: autosomal dominant nonsyndromic hearing loss 58

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p21-p12.


resistant hypertension

description: A severe medical condition which is estimated to appear in 9-18% of hypertensive patients, in which treatment with 3 or more antihypertensive drugs including diuretics are ineffective.


name: immune deficiency due to impaired neutrophil phagocytosis and migration


Bolivian hemorrhagic fever

description: Bolivian hemorrhagic fever (BHF), caused by the Machupo virus (MACV), is a severe acute viral hemorrhagic fever characterized by fever, myalgia, and arthralgia followed by hemorrhagic and neurological manifestations.


thyroid malformation

description: An anatomic abnormality of the thyroid gland.


name: partial trisomy of the long arm of chromosome 9


endometrium neoplasm

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


Leber congenital amaurosis 17

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GDF6 gene.


name: familial scaphocephaly syndrome, McGillivray type

description: Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.


phalangeal microgeodic syndrome

description: Phalangeal microgeodic syndrome is a rare primary osteolysis characterized by multiple small osteolytic areas and sclerosis in the phalanges of one or both hands associated with swelling and redness of the phalanges. Condition is benign, self-limited and may be associated with cold exposure.


name: intellectual disability, autosomal recessive 66


name: disabling pansclerotic morphea of childhood

description: Localized scleroderma presenting before the age of eighteen.


name: Mayer-Rokitansky-Kuster-Hauser syndrome type 1

description: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome, is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females.


gonococcal iridocyclitis

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


CACNA2D4-related retinopathy

description: Any retinopathy caused by variants in the CACNA2D4 gene.


name: autosomal dominant progressive nephropathy with hypertension


name: generalized epilepsy with febrile seizures plus, type 10


cataract 45

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the SIPA1L3 gene.


Argentine hemorrhagic fever

description: Argentine hemorrhagic fever (AHF), caused by the Junin virus (JUNV), is an acute viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms and in some cases hemorrhagic and neurological manifestations.


Alzheimer disease 3

description: Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene.


name: otospondylomegaepiphyseal dysplasia, autosomal recessive


mixed liposarcoma

description: A malignant neoplasm characterized by the presence of a combination of liposarcomatous morphologic subtypes: myxoid/round cell and well differentiated/dedifferentiated liposarcoma or myxoid/round cell and pleomorphic liposarcoma.


citrin deficiency

description: Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency).


name: chronic recurrent multifocal osteomyelitis 3


name: ichthyosis, congenital, autosomal recessive 14


name: discrete fibromuscular subaortic stenosis


protozoa infectious disease

description: An infection that is caused by protozoans.


acquired generalized lipodystrophy

description: Acquired generalized lipodystrophy belongs to a group of lipodystrophic syndromes characterized by loss of adipose tissue, and is a syndrome of insulin resistance that leads to increased cardiovascular risk. Acquired generalized lipodystrophy is related to a selective loss of subcutaneous adipose tissue occurring exclusively at the extremities (face, legs, arms, palms and sometimes soles).


glans penis cancer

description: A malignant neoplasm involving the glans penis.


severe spondylodysplastic dysplasia

description: An instance of spondylodysplastic dysplasia that has a high degree of severity.


retinitis pigmentosa 13

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF8 gene.


name: neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus


description: Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait.


name: primary cutaneous marginal zone B-cell lymphoma

description: Extranodal lymphoma of lymphoid tissue associated with mucosa that is in contact with exogenous antigens. Many of the sites of these lymphomas, such as the stomach, salivary gland, and thyroid, are normally devoid of lymphoid tissue. They acquire mucosa-associated lymphoid tissue (malt) type as a result of an immunologically mediated disorder.


chromosome 12p deletion

description: A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 12.


name: congenital myopathy with internal nuclei and atypical cores

description: Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients.


name: microcephaly 20, primary, autosomal recessive


name: intellectual disability, autosomal recessive 31


rhabdoid meningioma

description: A WHO grade III meningioma characterized by the predominant presence of rhabdoid cells forming sheets.


urothelial hyperplasia

description: Hyperplasia of the transitional epithelium of the urinary tract. Morphologically it is subdivided into flat and papillary hyperplasia. -- 2003


name: EMILIN-1-related connective tissue disease


white forelock with malformations

description: White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980.


black piedra

description: A superficial mycosis that is caused by Piedraia hortae and is manifested by a small firm black nodule involving the hair shaft.


Venezuelan hemorrhagic fever

description: Venezuelan hemorrhagic fever (VHF), caused by the Guanarito virus, is a viral hemorrhagic disease characterized by fever, headache, arthralgia, sore throat, convulsions, and hemorrhagic manifestations.


pulmonary amyloidosis

description: A rare hereditary amyloidosis that incorporates deposition of amyloid microfibril material in the lung parenchyma.


name: inborn disorder of branched-chain amino acid metabolism

description: An inherited metabolic disease that is has its basis in the disruption of branched-chain amino acid metabolic process.


complex hereditary spastic paraplegia

description: A hereditary spastic paraplegia that is part of a larger syndrome.


name: autosomal dominant nonsyndromic hearing loss 20

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the ACTG1 gene.


description: X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.


name: mitochondrial complex 1 deficiency, nuclear type 13


mosaic trisomy 22

description: Mosaic trisomy 22 isa chromosome disorder in which chromosome 22 is present three times, instead of the usual two times, in some cells of the body. The range and severity of the disorder can vary widely. Some of the features that have been associated with this conditioninclude growth delays,cognitive deficiencies, unequal developmentof the two sides of the body (hemidystrophy), webbing of the neck, abnormal deviation of the elbows when extended (cubitus valgus), multiple pigmented moles or birthmarks, distinctive malformations of the head and face, and other physical abnormalities. A number of cases of children with mosaic trisomy 22 and normal growth and development have also been described.


self-limited familial neonatal epilepsy

description: A neonatal/infantile epilepsy syndrome that is characterized by the onset of seizures that start in the in the neonate between day 1 and 7 of life and are often unilateral clonic events that recur and may alternate sides from seizure to seizure. Seizures can be repetitive over hours to days. Seizures remit by 4-6 months of age. A proportion of those affected may have seizures in later life. The child is expected to have typical developmental progress.


systemic monochloroacetate poisoning

description: Systemic monochloroacetate poisoning is a rare, life-threatening intoxication with monochloroacetic acid (mainly through the skin, but also by inhalation or ingestion). It is characterized by vomiting, diarrhea and central nervous system (CNS)-excitability (disorientation, delirium, convulsions) as early signs of systemic poisoning, followed by CNS-depression, coma and cerebral edema. Additional signs include heart involvement (severe myocardial depression, shock, arrhythmias, nonspecific myocardial damage), severe metabolic acidosis, hypokalemia, hypocalcemia and progressive renal failure leading to anuria. Myoglobinemia and leukocytosis may occur. Manifestations may be delayed for 1-4 hours.


name: metopic ridging-ptosis-facial dysmorphism syndrome


name: sinoatrial node dysfunction and deafness

description: Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress.


name: arthrogryposis, distal, with impaired proprioception and touch


primary bone lymphoma

description: A rare non-Hodgkin lymphoma or even more rarely, a Hodgkin lymphoma that arises from the bone, without lymph node or other extranodal involvement. The femur, spine, and pelvic bones are the most commonly affected sites. The majority of patients present with bone pain in the affected area. A single bone or multiple skeletal sites may be involved. The prognosis is related to the cell type and the stage of the disease.


Bruck syndrome

description: Bruck syndrome is characterized by the association of osteogenesis imperfecta and congenital joint contractures.


name: childhood precursor T-lymphoblastic lymphoma/leukemia

description: A T lymphoblastic leukemia/lymphoma that occurs during childhood.


uterine cervix leukoplakia

description: The presence of whitish patches on the mucosal surface of the cervix. Histologic examination reveals hyperkeratosis. In a minority of cases, underlying dysplasia or carcinoma in situ is present.


name: hearing loss, autosomal dominant 34, with or without inflammation


name: congenital stationary night blindness autosomal dominant 3

description: A congenital stationary night blindness characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the GNAT1 gene on chromosome 3p21.


testis sarcoma

description: A sarcoma that arises from the testis. The majority of cases arise from teratomas or spermatocytic seminomas.


name: autosomal dominant rhegmatogenous retinal detachment

description: Autosomal dominant form of rhegmatogenous retinal detachment.


name: polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG

description: Polyneuropathy associated with IgM monoclonal gammapathy (MG) with anti-MAG (myelin-associated-glycoprotein) activity is a demyelinating polyneuropathy characterized clinically by sensory ataxia, tremor, paresthesia, and impaired gait.


leishmaniasis, diffuse cutaneous

description: A form of LEISHMANIASIS, CUTANEOUS caused by Leishmania aethiopica in Ethiopia and Kenya, L. pifanoi in Venezuela, L. braziliensis in South America, and L. mexicana in Central America. This disease is characterized by massive dissemination of skin lesions without visceral involvement.


osteogenesis imperfecta type 4

description: Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI).


name: intermediate cell type ciliary body melanoma

description: Ciliary body melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells.


lymph node tuberculosis

description: Tuberculosis of the lymph node.


name: immunodeficiency 82 with systemic inflammation

description: A complex autosomal dominant immunologic disorder characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease. One of the more common features is inflammation of the stomach and bowel. Most patients develop symptoms in infancy or early childhood; the severity is variable. There may be accompanying fever, elevated white blood cell count, decreased B cells, hypogammaglobulinemia, increased C-reactive protein (CRP), and a generalized hyperinflammatory state. Immunologic workup shows variable B- and T-cell abnormalities such as skewed subgroups. Patients have a propensity for the development of lymphoma, usually in adulthood. At the molecular level, the disorder results from a gain-of-function mutation that leads to constitutive and enhanced activation of the intracellular inflammatory signaling pathway.


congenital myasthenic syndrome 20

description: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC5A7 gene.


ocular siderosis

description: A hemosiderosis that involves the camera-type eye.


name: familial acute necrotizing encephalopathy

description: Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterized by neuropathological lesions principally involving the brainstem, thalamus and putamen.


description: An autosomal dominant condition caused by pathogenic variants of the NOG gene, encoding the noggin protein. Five overlapping clinical syndromes associated with NOG mutations have been described; proximal symphalangism, multiple synostoses syndrome 1, tarsal-carpal coalition syndrome, stapes ankylosis with broad thumbs and toes, and brachydactyly type B2. NOG-related symphalangism spectrum disorder is a new term initially proposed by Potti et al., 2011 to encompass these disorders. NOG-SSD is characterized by proximal symphalangism, conductive deafness caused by stapes ankylosis, ocular abnormality such as hyperopia and strabismus, and characteristic facial features including a broad, tubular-shaped nose and a thin upper vermilion.


vagina sarcoma

description: A malignant mesenchymal neoplasm that arises from the vagina. Representative examples include botryoid-type embryonal rhabdomyosarcoma, leiomyosarcoma, and endometrioid stromal sarcoma.


metaphyseal anadysplasia

description: Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed.


name: growth delay due to insulin-like growth factor I resistance

description: Growth delay due to IGF-I resistance is characterized by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).


amyotrophic lateral sclerosis type 15

description: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the UBQLN2 gene.


name: corneal dystrophy, posterior polymorphous, 4


name: communicating congenital bronchopulmonary-foregut malformation


acute idiopathic urticaria

description: Acute form of idiopathic urticaria.


name: lissencephaly 7 with cerebellar hypoplasia


dartoic leiomyoma

description: A cutaneous leiomyoma arising from the dartos muscle of the scrotum or labia majora.


punctate inner choroidopathy

description: A rare ophthalmic disorder characterized by typically bilateral, asymmetric, yellowish, punctate chorioretinal lesions of the posterior pole forming a linear branching pattern and progressing to atrophic scars. Subretinal neovascular membranes occur in many cases. Vitritis is always absent. Patients may present with blurred vision, scotoma, floaters, photopsia, and metamorphopsia. Choroidal neovascular membrane formation and subretinal fibrosis are the major causes of visual loss. The condition predominantly occurs in young myopic females.


name: congenital heart defects, multiple types, 8, with or without heterotaxy


mosaic variegated aneuploidy syndrome 2

description: Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the CEP57 gene.


premature ovarian failure 10

description: Premature ovarian failure-10 (POF10) represents a syndrome characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells.nnFor a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (OMIM:311360).nnFor a discussion of genetic heterogeneity of age at natural menopause, see MENOQ1 (OMIM:300488).


camptobrachydactyly

description: Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972.


congenital mitral valve agenesis

description: Mitral valve agenesis is a rare congenital heart malformation defined as an agenesis or severe hypoplasia of both mitral valve leaflets (complete agenesis) or one of the leaflets (partial agenesis). Complete mitral valve agenesis presents in the neonatal period with symptoms of severe mitral regurgitation and is rapidly fatal unless surgically treated. It is frequently associated with other heart malformations. Partial mitral valve agenesis may present at various ages, usually with symptoms of mitral regurgitation.


name: hemolytic anemia due to glutathione reductase deficiency

description: Haemolytic anemia due to glutathione reductase (GSR) deficiency is characterized by nearly complete absence of GSR activity in erythrocytes.


name: muscular dystrophy-dystroglycanopathy, type C


neurosyphilis

description: Infection of the brain or spinal cord by Treponema pallidum. It occurs many years following the original infection which remained untreated. Signs and symptoms include abnormal gait, blindness, depression, paralysis, seizures and dementia.


19p13.3 microduplication syndrome

description: 19p13.3 microduplication syndrome is a rare, genetic, syndromic intellectual disability characterized by intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability, and mild dysmorphic features.


orofaciodigital syndrome type 13

description: Orofaciodigital syndrome type 13 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (mitral and tricuspid valve dysplasia) and neuropsychiatric manifestations (epilepsy, depression), in addition to oral, facial and digital malformations (lingual hamartomas, cleft lip, and brachydactyly, clinodactyly, syndactyly of hands and feet). Leukoaraiosis, on brain MRI examination, is also associated.


staphylococcal toxic-shock syndrome

description: Staphylococcal toxic shock syndrome (staphylococcal TSS) is an acute disease mediated by the production of superantigenic toxins, characterized by high fever, skin rash followed by skin peeling, hypotension, vomiting, diarrhea and potentially leading to multisystem organ failure and caused by a Staphylococcus aureus bacterial infection.


immunodeficiency, common variable, 12

description: Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB1 gene.


Mycobacterium xenopi infection

description: A disease caused by infection with Mycobacterium xenopi.


chronic closed-angle glaucoma

description: Chronic form of angle-closure glaucoma.


description: Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.


LAMA2-related muscular dystrophy

description: Any muscular dystrophy in which the cause of the disease is a mutation in the LAMA2 gene.


ring chromosome 17

description: Ring chromosome 17 syndrome is a rare chromosomal anomaly syndrome, resulting from partial deletion of chromosome 17, characterized by highly variable manifestations, ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), café-au-lait spots, retinal flecks and minor facial dysmorphism, depending on the presence or absence of the Miller-Dieker critical region.


syphilitic meningitis

description: An infectious meningitis caused by infection with Treponema.


malignant neoplasm of endocervix

description: A cancer that involves the endocervix.


Rickettsia helvetica spotted fever

description: A disease caused by infection with Rickettsia helvetica.


name: congenital hereditary endothelial dystrophy of cornea

description: A rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision.


Duane retraction syndrome 2

description: Any Duane retraction syndrome in which the cause of the disease is a mutation in the CHN1 gene.


name: immunodeficiency 93 and hypertrophic cardiomyopathy

description: An autosomal recessive disorder characterized by onset of recurrent viral and bacterial infections, particularly with encapsulated bacteria, and hypertrophic cardiomyopathy in the first months or years of life. Immunologic workup typically shows decreased circulating B cells and hypo- or agammaglobulinemia, sometimes with neutropenia or T-cell lymphocytosis, although laboratory findings may be variable among patients. Ig replacement therapy is beneficial. Cardiac involvement can also include atrial septal defect, valvular insufficiency, and pre-excitation syndrome. Rare myopathic or neurologic involvement has been reported, but these features are not consistently part of the disorder and may be related to other genetic defects.


Leber congenital amaurosis 3

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the SPATA7 gene.


endemic typhus

description: A bacterial infection caused by Rickettsia typhi.


thymus lipoma

description: A well-circumscribed tumor of the thymus composed of islands of normal thymic parenchyma and mature adipose tissue. It is not clear if thymolipoma is a neoplastic or non-neoplastic lesion.


glucose metabolism disease

description: A metabolic disorder characterized by abnormal blood glucose levels.


name: hypoinsulinemic hypoglycemia and body hemihypertrophy


glycerol metabolism disease

description: A disease that has its basis in the disruption of glycerol metabolic process.


nephronophthisis 18

description: Any nephronophthisis in which the cause of the disease is a mutation in the CEP83 gene.


name: junctional epidermolysis bullosa Herlitz type

description: Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes.


venous thoracic outlet syndrome

description: Venous thoracic outlet syndrome (VTOS) is a form of thoracic outlet syndrome (TOS) that manifests as unilateral (rarely bilateral) arm pain and cyanosis.


dihydropyrimidinuria

description: Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity.


name: encephalopathy due to defective mitochondrial and peroxisomal fission 2


Crigler-Najjar syndrome type 2

description: Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1.


injection anthrax

description: An anthrax disease that is characterized by infection at the injection site or deep under the skin or in the muscle where the drug was injected and is caused by heroin contaminated with anthrax spores.


name: vitamin B12- and folate-independent constitutional megaloblastic anemia


Akaba Hayasaka syndrome

description: A syndrome characterized by frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax, and rhizomelic micromelia.


phrynoderma

description: Phrynoderma is a form of follicular hyperkeratosis seen in young children and adolescents due to nutritional deficiencies. It is clinically characterized by discrete, follicular, skin-colored papules with keratotic plugs distributed over elbows, knees, extensor extremities, and buttocks.


isolated megalencephaly

description: A megalencephaly (disease) that is not part of a larger syndrome.


pontocerebellar hypoplasia type 2C

description: Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN34 gene.


hereditary spastic paraplegia 43

description: Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported.


name: carnitine palmitoyl transferase 1A deficiency

description: Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure.


acinar dysplasia

description: A lethal, developmental lung malformation resulting in neonatal respiratory insufficiency. It is characterized by pulmonary hypoplasia and arrest in the pseudoglandular stage of development, resulting in the absence of functional gas exchange. It can be caused by mutations in FGF10, FGFR2 or TBX4.


PCARE-related retinopathy

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


dicarboxylic aminoaciduria

description: Dicarboxylicaminoaciduria is characterized by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit.


name: Charcot-Marie-Tooth disease axonal type 2U

description: Autosomal dominant Charcot-Marie-Tooth disease type 2U (CMT2U) is a subtype of autosonal dominant Charcot-Marie-Tooth disease type 2 characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated.


mitochondrial DNA maintenance syndrome

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


name: endometrioid stromal sarcoma of the cervix

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


oculopharyngeal muscular dystrophy 1

description: An autosomal dominant disorder caused by mutations in the PABPN1 gene, encoding polyadenylate-binding protein 2. The condition is characterized by progressive ptosis, dysphagia and weakness of the muscles of the face, neck, and extraocular muscles.


name: mitochondrial DNA depletion syndrome 3 (hepatocerebral type)

description: Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the DGUOK gene.


name: X-linked intellectual disability, van Esch type

description: X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism.


name: MGAT2-congenital disorder of glycosylation

description: MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21).


lacrimal system cancer

description: A cancer that involves the lacrimal apparatus.


skin appendage disorder

description: A disease that involves the cutaneous appendage.


name: congenital dyserythropoietic anemia type 1

description: Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis.


name: neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies


apical myocardial infarction

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


chromosome inversion disorder

description: Chromosomal disorder consisting of the presence a chromosome rearrangement in which a segment has been turned through 180 degrees (inverted), and inserted back into its original location on the chromosome.


prostate sarcoma

description: A rare malignant soft tissue neoplasm that arises from the prostate gland. Representative examples include leiomyosarcoma, rhabdomyosarcoma, and stromal sarcoma.


lymphatic malformation

description: Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts and lymphatic-system malformation.


name: facial paresis, hereditary congenital, 2


name: neurodegeneration with brain iron accumulation 8


nevoid basal cell carcinoma syndrome

description: A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities.


name: early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation

description: Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI.


name: pyruvate carboxylase deficiency, infantile form

description: Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course.


malignant germ cell tumor

description: A gonadal or extragonadal malignant neoplasm that arises from germ cells. Representative examples include embryonal carcinoma, yolk sac tumor, and seminoma.


name: sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy


benign neoplasm of epiglottis

description: A benign neoplasm that involves the epiglottis.


name: inherited fatty acid metabolism disorder

description: A group of genetic disorders that result from the inability to produce or use an enzyme required to oxidize fatty acids, resulting in an inability to generate energy from fatty acid sources.


name: hereditary hemorrhagic telangiectasia type 3


name: short stature-brachydactyly-obesity-global developmental delay syndrome


ichthyosis hystrix of Curth-Macklin

description: Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK).


name: developmental delay with autism spectrum disorder and gait instability

description: Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior.


name: classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form

description: The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency.


linear scleroderma

description: A type of localized scleroderma characterized by a long strip of indurated skin, which is typically found unilaterally on an arm or leg, and sometimes on the forehead or trunk. This disorder often affects the tissues beneath the skin, causing damage to bones, muscle or other organs. It can limit movement, alter growth, and disfigure the affected area.


hereditary spastic paraplegia 16

description: A hereditary spastic paraplegia that has material basis in variation in the chromosome region Xq11.2.


name: spinocerebellar ataxia, autosomal recessive, with axonal neuropathy


chorioamnionitis

description: A morphologic finding indicating inflammation of the fetal sac membranes. It is characterized by neutrophilic infiltration of the amnion and chorion.


name: hemolytic anemia due to erythrocyte adenosine deaminase overproduction

description: Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected.


PAGOD syndrome

description: PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies.


erythrocyte disorder

description: A disease or disorder that involves the erythrocyte.


name: sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

description: A molybdenum cofactor deficiency that has material basis in homozygous mutation in the GPHN gene on chromosome 14q23.


pituitary stalk meningioma

description: A meningioma that affects the pituitary stalk.


glucocorticoid-remediable aldosteronism

description: Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol.


name: parasitic ectoparasitic infectious disease

description: Infestations by parasites which live on, or burrow into, the surface of their host's epidermis. Most ectoparasites are arthropods.


Rafiq syndrome

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MAN1B1 gene.


name: intellectual disability, autosomal dominant 2

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DOCK8 gene.


name: combined oxidative phosphorylation defect type 24

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the NARS2 gene.


name: autosomal recessive nonsyndromic hearing loss 47

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2p25.1-p24.3.


name: X-linked intellectual disability, Schimke type

description: X-linked mental retardation, Schimke type, is characterized by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked.


non-secretory plasma cell myeloma

description: A rare type of multiple myeloma in which the plasma cells synthesize but do not secrete immunoglobulins. As a result, none of the immunoglobulins appear out of the normal range. The symptoms are generally the same with those of immunoglobulin-secreting myeloma; however, the incidence of renal insufficiency is lower in non-secretory myeloma. The diagnosis can be missed because of the absence of monoclonal immunoglobulin in the serum or urine.


Alzheimer disease 16

description: An Alzheimer's disease that is characterized by an associated with a risk allele in in the PCDH11X gene on chromosome Xq21.3.


uterine body mixed cancer

description: A primary malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. This category includes carcinosarcoma, carcinofibroma, and adenosarcoma.


name: neurological muscular channelopathy due to a genetic calcium channel defect


name: Charcot-Marie-Tooth disease axonal type 2F

description: Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop.


name: neuromuscular disorder, congenital, with dysmorphic facies


name: neuronopathy, distal hereditary motor, autosomal dominant 1

description: An autosomal dominant neurodegenerative disorder characterized by juvenile onset, distal motor weakness without sensory impairment, and anterior horn cell degeneration.


pontocerebellar hypoplasia type 7

description: Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.


name: primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma


name: mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5


name: intellectual disability, autosomal recessive 64


name: autosomal recessive nonsyndromic hearing loss 97

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


name: microcephalic primordial dwarfism, Alazami type

description: Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety.


schizoid personality disorder

description: A disorder characterized by an enduring pattern of extreme social detachment and lack of involvement in interpersonal activities, coupled with emotional coldness.


idiopathic panuveitis

description: Idiopathic panuveitis is a rare inflammatory eye disease, of unknown etiology, characterized by generalized inflammation of the uvea (iris, ciliary body, choroid), retina and vitreous with consequent ciliary spasm and posterior synechiae formation, leading to acute or chronic, unilateral or bilateral visual impairment and ocular discomfort or pain. Patients present an increased risk of development of cataracts, secondary glaucoma, cystoid macular edema and/or retinal detachment. It could potentially result in vision loss.


name: mitochondrial complex 4 deficiency, nuclear type 18


name: mixed phenotype acute leukemia, B/myeloid

description: An acute biphenotypic leukemia that is characterized by blasts which express B-lymphoid and myeloid lineage markers but are negative for MLL translocation and t(9;22)(q34;q11.2) translocation.


acute papillary necrosis

description: Acute form of kidney papillary necrosis.


Baraitser-Winter syndrome 1

description: Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTB gene.


name: ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1

description: An EEC syndrome characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 7q11.2-q21.3.


name: partial deletion of the long arm of chromosome 21


name: X-linked intellectual disability-cerebellar hypoplasia syndrome

description: X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.


name: hemiplegic migraine-developmental and epileptic encephalopathy spectrum

description: A spectrum in which individuals may present with phenotypes ranging from hemiplegic migraines without epilepsy to developmental and epileptic encephalopathy with or without episodic hemiplegia or other forms of paresis. Symptoms and severity may vary within families.


herpes simplex virus gingivostomatitis

description: Stomatitis caused by Herpesvirus hominis. It usually occurs as acute herpetic stomatitis (or gingivostomatitis), an oral manifestation of primary herpes simplex seen primarily in children and adolescents.


hereditary spastic paraplegia 27

description: A hereditary spastic paraplegia that has material basis in variation in the chromosome region 10q22.1-q24.1.


name: autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

description: Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3.


name: intellectual disability, autosomal recessive 54

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


pleuro-pericardial cyst

description: Pleuro-pericardial cyst is a rare, mostly congenital, pericardium anomaly characterized by the presence of, usually asymptomatic, cysts which are typically located in the right costophrenic angle and are usually incidentally diagnosed. On occasion, it manifests with chest pain, dyspnea, tachycardia, persistent cough or cardiac arrhythmias. The condition is usually benign, but rare complications, such as cardiac tamponade, cardiogenic shock, mitral valve prolapse, hoarseness atrial fibrillation, right ventricular outflow, tract obstruction, spontaneous internal hemorrhage, pulmonary stenosis and sudden death, may occur.


bone dysplasia, Azouz type

description: Bone dysplasia Azouz type is a form of generalized enchondromatosis with involvement of the spine (so called spondyloenchondromatosis). Spondyloenchondromatosis is a very rare skeletal dysplasia characterized by severe platyspondyly, and mild involvement of hands and feet.


description: Ataxia-hypogonadism-choroidal dystrophy syndrome is a very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome.


name: Alzheimer disease without neurofibrillary tangles


name: Bernard-Soulier syndrome, type A2, autosomal dominant

description: A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has material basis in heterozygous mutations in the GP1BA gene on chromosome 17p.


childhood malignant kidney neoplasm

description: A malignant neoplasm that affects the kidney and occurs in childhood.


name: disorder of peptide and amine metabolism

description: An inherited metabolic disease that has its basis in the disruption of peptide and/or amine metabolic process.


erythrocytosis, familial, 5

description: Any familial polycythemia in which the cause of the disease is a mutation in the EPO gene.


late-onset focal dermal elastosis

description: Late-onset focal dermal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by a pseudoxanthoma elasticum-like papular eruption consisting of multiple, slowly progressive, asymptomatic, 2-5 mm, white to yellowish, non-follicular papules (that tend to form cobblestone plaques) predominantly distributed over the neck, axillae and flexural areas, with no systemic involvement. Skin biopsy reveals a focal increase of normal-appearing elastic tissue in the reticular dermis with no calcium deposits.


inherited thrombophilia

description: An instance of thrombophilia that is inherited.


vaginal leiomyoma

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


mild Canavan disease

description: Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development.


name: autosomal recessive nonsyndromic hearing loss 68

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the S1PR2 gene.


neuroschistosomiasis

description: Schistosomiasis of the brain, spinal cord, or meninges caused by infections with trematodes of the genus schistosoma (primarily schistosoma japonicum; schistosoma mansoni; and schistosoma haematobium in humans). S. japonicum infections of the nervous system may cause an acute meningoencephalitis or a chronic encephalopathy. S. mansoni and S. haematobium nervous system infections are associated with acute transverse myelitis involving the lower portions of the spinal cord. (From Joynt, Clinical Neurology, 1998, Ch27, pp61-2)


name: congenital stationary night blindness 1B

description: Any congenital stationary night blindness in which the cause of the disease is a mutation in the GRM6 gene.


cancer-related condition

description: A disorder either associated with an increased risk for malignant transformation (e.g., intraepithelial neoplasia, leukoplakia, dysplastic nevus, myelodysplastic syndrome) or that develops as a result of the presence of an existing malignant neoplasm (e.g., paraneoplastic syndrome).


name: RNASEH2C-related type 1 interferonopathy

description: Any type 1 interferonopathies in which the cause of the disease is a variation in the RNASEH2C gene. Individuals with variants in RNASEH2C can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.


hyperthyroxinemia

description: Abnormally elevated thyroxine level in the blood.


name: amelogenesis imperfecta, hypomaturation type, IIa6


name: neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures


Leber congenital amaurosis 8

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRB1 gene.


name: diarrhea-vomiting due to trehalase deficiency

description: This syndrome is characterized by diarrhea and vomiting after ingestion of trehalose, a disaccharide found mainly in mushrooms.


Arenaviridae infectious disease

description: Virus diseases caused by the arenaviridae.


sphingolipidosis

description: An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease.


hereditary palmoplantar keratoderma

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


spermatogenic failure, X-linked, 2

description: Any azoospermia in which the cause of the disease is a mutation in the TEX11 gene.


name: AKT2-related familial partial lipodystrophy


cone dystrophy 3

description: Any cone dystrophy in which the cause of the disease is a mutation in the GUCA1A gene.


name: familial Mediterranean fever, autosomal dominant


name: developmental and epileptic encephalopathy, 58


name: mitochondrial substrate carrier disorder


name: autosomal dominant nonsyndromic hearing loss 43

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p12.


pityriasis rotunda

description: Pityriasis rotunda is a rare skindisease characterized by round, scaly, pigmented patches that mainly occur on the trunk, arms and legs. There are two types of pityriasis rotunda.


name: mitochondrial complex 1 deficiency, nuclear type 8


name: chromosome 22q11.2 microduplication syndrome

description: The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS), establishing a complementary duplication syndrome.


name: intellectual disability, autosomal dominant 41

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the TBL1XR1 gene.


hypochondroplasia

description: Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.


Bruck syndrome 2

description: Any Bruck syndrome in which the cause of the disease is a mutation in the PLOD2 gene.


name: neurodevelopmental disorder with poor growth and behavioral abnormalities


name: familial idiopathic inflammatory myopathy

description: An instance of myositis that is caused by an inherited genomic modification in an individual, and has an unknown cause.


name: mitochondrial complex III deficiency nuclear type 7

description: Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC2 gene.


central nervous system hibernoma

description: A rare benign slow growing adipose tumor, characterized by the presence of polygonal brown fat cells with abundant cytoplasm, that arises within the nervous system.


name: neurodevelopmental disorder with alopecia and brain abnormalities


congenital candidiasis

description: A fungal infection by any of the Candida species that is present at birth.


benign neoplasm of spleen

description: A benign neoplasm that involves the spleen.


name: mitochondrial complex III deficiency nuclear type 9

description: Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC3 gene.


O'nyong'nyong fever

description: An disease or disorder caused by infection with O'nyong-nyong virus.


acquired angioedema type 1

description: Acquired angioedema type 1 (AAE 1) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.


familial anetoderma

description: Familial anetoderma is an extremely rare genetic skin disease characterized by loss of elastin tissue leading to localized areas of flaccid skin and a family history of the disorder.


name: erosive pustular dermatosis of the scalp

description: Erosive pustular dermatosis of the scalp is a rare chronic inflammation of the scalp usually occurring in elderly women (>70 years old) and characterized by the development of painful pustules, shallow erosions, and crusting on atrophic skin that eventually result in cicatricial alopecia.


plague

description: Plague is a severe bacterial infection caused by the gram-negative bacterium Yersinia pestis.


Aicardi-Goutieres syndrome 3

description: Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2C gene.


name: recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome

description: Hyperzincemia and hypercalprotectinemia is a rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported.


spastic ataxia 3

description: Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MARS2 gene.


name: SSR4-congenital disorder of glycosylation

description: A form of congenital disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene SSR4(Xq28).