erythema multiforme major

description: A severe, sometimes life-threatening, form of erythema multiforme. It is considered to be a hypersensitivity skin reaction triggered by a variety of stimuli, including infections and medication. It is characterized by raised, edematous papules in the extremities; involvement of one or more mucous membranes; and epidermal detachment involving less than ten percent of the total body surface area.


name: cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome

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


name: severe combined immunodeficiency due to LAT deficiency


name: combined immunodeficiency due to GINS1 deficiency


name: psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome


name: pancreatic carcinoma with mixed differentiation

description: A rare carcinoma with a poor prognosis, characterized by the presence of a mixture of exocrine and neuroendocrine malignant epithelial cells in both the pancreas and metastatic sites. Symptoms include jaundice, abdominal pain, and weight loss.


name: autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction


Gabriele de Vries syndrome

description: An autosomal dominant condition caused by mutation(s) in the YY1 gene, encoding transcriptional repressor protein YY1. It is a neurodevelopmental disorder characterized by intellectual disability, developmental delay, and variable functional and morphological abnormalities.


name: Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome


salivary gland squamous cell carcinoma

description: A squamous cell carcinoma arising from the salivary glands. The majority of patients are in their sixth through eight decades. It usually presents as a rapidly enlarging mass, which may be painful. It usually has an aggressive clinical course.


name: autosomal recessive epidermolytic ichthyosis


major salivary gland cancer

description: A primary or metastatic malignant neoplasm affecting the major salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma.


prekallikrein deficiency

description: A condition characterized by the congenital or acquired deficiency of prekallikrein. This deficiency is usually not associated with bleeding. The congenital deficiency is very rare. Acquired deficiency may occur in diffuse intravascular coagulation, infections, and sickle cell disease.


nervous system injury

description: Traumatic injuries to the brain, cranial nerves, spinal cord, autonomic nervous system, or neuromuscular system, including iatrogenic injuries induced by surgical procedures.


anaplasmosis in cattle

description: A disease of cattle caused by parasitization of the red blood cells by bacteria of the genus ANAPLASMA.


description: X-linked congenital stationary night blindness (XLCSNB) is a disorder of the retina. People with this condition typically experience night blindness and other vision problems, including loss of sharpness (reduced visual acuity), severe nearsightedness (myopia), nystagmus,and strabismus. Color vision is typically not affected. These vision problems are usually evident at birth, but tend to be stable (stationary) over time. There aretwo major types of XLCSNB: the complete form and the incomplete form. Bothtypes have very similar signs and symptoms. However, everyone with the complete form has night blindness, while not all people with the incomplete form have night blindness. The types are distinguished by their genetic cause.


chronic diarrheal disease

description: Chronic form of diarrheal disease.


lumbar spinal stenosis

description: A spinal stenosis that involves the lumbar region of vertebral column.


name: diarrheal disease secondary to increased bowel motility

description: A diarrhea that results from increased motility in the bowel; significant increases in bowel motility can deliver excessively large volumes of stool to the colon. Diarrhea can result when the maximum colonic absorptive capacity of 4 liters a day is exceeded. Also, an alteration in colonic motility such that bowel contents are emptied before adequate absorption can occur has been offered as a possible explanation for the diarrhea associated with irritable bowel disease.


name: diarrheal disease secondary to decreased bowel motility

description: A diarrhea that results from decreased motility in the bowel; the resultant bowel stasis encourages bacterial overgrowth and subsequent bile salt deconjugation. Diarrhea is then the direct result of fat malabsorption and increased colonic secretion.


benign choroid plexus neoplasm

description: A neoplasm that arises from the choroid plexus and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.


steroid-resistant nephrotic syndrome

description: Nephrotic syndrome, occurring in the pediatric population, in which proteinuria does not normalize with administration of steroids; this condition is unresponsive to a minimum of four weeks administration of oral corticosteroids.


name: childhood adrenal gland pheochromocytoma

description: A rare pheochromocytoma of the adrenal gland that occurs during childhood.


vagus nerve paraganglioma

description: A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the vagus nerve. Patients may present with a slow growing, painless mass in the neck, hoarseness, vocal cord paralysis, and dysphagia.


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).


name: nodular lymphocyte predominant Hodgkin lymphoma

description: A monoclonal B-cell neoplasm characterized by a nodular, or a nodular and diffuse proliferation of scattered large neoplastic cells known as popcorn or lymphocyte predominant cells (LP cells)- formerly called L&H cells for lymphocytic and/or histiocytic Reed-Sternberg cell variants. The LP cells lack CD15 and CD30 in nearly all instances. Patients are predominantly male, frequently in the 30-50 year age group. Most patients present with limited stage disease (localized peripheral lymphadenopathy, stage I or II). (WHO 2008)


name: nephrotic syndrome of childhood - steroid sensitive

description: Nephrotic syndrome, occurring in the pediatric population, characterized by the normalization of proteinuria with the administration of corticosteroids.


esophageal ulcer

description: An ulcerated lesion in the esophageal wall.


solid papillary breast carcinoma

description: A well circumscribed, low grade neoplasm that arises from the breast. It is characterized by the presence of sheets of malignant epithelial cells that are supported by fibrovascular structures. When there is an invasive component present, it is usually a mucinous carcinoma.


myxoma

description: A benign soft tissue neoplasm characterized by the presence of spindle and stellate cells, lobulated growth pattern, and myxoid stroma formation.


desmoplastic melanoma

description: A melanoma of the skin characterized by a proliferation of atypical spindled melanocytes in the dermis, in a background of abundant collagen. It usually presents as an amelanotic raised nodular lesion.


name: solid pseudopapillary neoplasm of the pancreas

description: A low-grade malignant neoplasm that arises from the exocrine pancreas. It is characterized by the presence of uniform cells that form solid and pseudopapillary patterns, cystic changes, and hemorrhage. Perineural invasion, vascular invasion, and invasion into surrounding tissues may be present. It usually presents as an encapsulated, solitary, and lobulated pancreatic mass. It is usually found incidentally during physical examination or it may present with abdominal discomfort and pain. It occurs predominantly in young women. Complete removal of the tumor is curative in the majority of cases.


name: nasal cavity and paranasal sinus squamous cell carcinoma

description: A rare, keratinizing or non-keratinizing squamous cell carcinoma arising from the mucosal epithelium of the nasal cavity or the paranasal sinuses. It affects most often the maxillary sinus. Less frequently, it arises from the nasal cavity, ethmoid sinus, sphenoid sinus, and frontal sinus. Symptoms include nasal fullness, epistaxis, rhinorhea, pain, and paresthesia. Patients with nasal squamous cell carcinoma usually present earlier than patients with maxillary sinus carcinoma and have a better prognosis compared to the latter group.


description: An intrahepatic cholangiocarcinoma that arises from the intrahepatic large bile ducts.


digital papillary eccrine carcinoma

description: An adenocarcinoma arising from the sweat glands. Most cases present as nodular lesions on the digits, usually in the hands. It is characterized by the presence of epithelial cells in the dermis forming nodules. Cystic structures containing papillary projections are also present. It may recur and metastasize, most commonly to the lungs.


name: combined hepatocellular carcinoma and cholangiocarcinoma

description: A rare tumor containing unequivocal elements of both hepatocellular and cholangiocarcinoma that are intimately admixed. This tumor should be distinguished from separate hepatocellular carcinoma and cholangiocarcinoma arising in the same liver. The prognosis of this tumor is poor.


large congenital melanocytic nevus

description: A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.


spitz nevus

description: A benign, acquired or congenital, usually single skin lesion. It can occur on any area of the body, but most commonly occurs on the face of children and the thighs of young females. It is characterized by a proliferation of large spindle, oval, or large epithelioid melanocytes in the dermal-epidermal junction. The melanocytic proliferation subsequently extends into the dermis.


benign melanocytic skin nevus

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


epithelioid cell nevus

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


spindle cell nevus

description: A nevus characterized by the presence of spindle-shaped melanocytes.


desmoplastic nevus

description: A benign melanocytic nevus characterized by the presence of desmoplastic stroma.


desmoplastic spitz nevus

description: A Spitz nevus associated with fibrous stroma formation.


inherited dystonia

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


idiopathic torsion dystonia

description: Torsion dystonia for which no underlying cause has been identified.


familial idiopathic torsion dystonia

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


acquired idiopathic torsion dystonia

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


torsion dystonia

description: Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body.


acquired torsion dystonia

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


dysautonomia

description: An acute or chronic disorder, affecting the sympathetic or parasympathetic nervous system. It can be primary, the result of central nervous system degeneration, or secondary due to diabetes or alcoholism. Patients with the chronic form of this disorder usually have a progressive clinical course and a poor prognosis.


childhood myelodysplastic syndrome

description: An uncommon hematologic malignancy occurring during childhood. Many of the morphologic, immunophenotypic, and genetic changes seen in adult myelodysplastic syndromes are also observed in the childhood variants of the disease. Children present with neutropenia and thrombocytopenia more often than adults, and bone marrow hypocellularity is more often seen in children than adults.


refractory cytopenia of childhood

description: The most common subtype of the myelodysplastic syndromes affecting children. It is characterized by persistent cytopenia with less than 5% blasts in the bone marrow and less than 2% blasts in the peripheral blood.


coronary microvascular disorder

description: A disorder affecting the smallest coronary arteries. Causes include atherosclerosis and arterial spasm. Chest pain is a frequently observed symptom.


paraneoplastic cerebellar degeneration

description: A rare, immune-mediated disorder characterized by cerebellar degeneration due to the presence of an often undetected malignancy (usually carcinoma or lymphoma) in an anatomic site other than the cerebellum. Signs and symptoms include progressive ataxia, dysarthria, and nystagmus.


adult germ cell tumor

description: A germ cell tumor that occurs during adulthood.


pancreatic mucinous-cystic neoplasm

description: A non-invasive or invasive cystic epithelial neoplasm that affects almost exclusively females. It is characterized by the presence of columnar mucin-producing epithelial cells and ovarian-type stroma formation.


name: hematopoietic and lymphoid cell neoplasm

description: A neoplasm arising from hematopoietic cells found in the bone marrow, peripheral blood, lymph nodes and spleen (organs of the hematopoietic system). Hematopoietic cell neoplasms can also involve other anatomic sites (e.g. central nervous system, gastrointestinal tract), either by metastasis, direct tumor infiltration, or neoplastic transformation of extranodal lymphoid tissues. The commonest forms are the various types of leukemia, Hodgkin and non-Hodgkin lymphomas, myeloproliferative neoplasms, and myelodysplastic syndromes.


tonsillar lymphoma

description: A primary lymphoma that affects the tonsil and the bulk of the tumor is in this anatomic area. The majority of cases are B-cell non-Hodgkin lymphomas.


tonsillar lipoma

description: A benign adipose tissue neoplasm of the tonsils.


name: central nervous system non-hodgkin lymphoma

description: A non-Hodgkin lymphoma that arises from the central nervous system.


high grade B-cell lymphoma

description: A term that refers to high grade B-cell lymphoma, not otherwise specified or high grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements.


myelofibrosis

description: A partial or complete replacement of the bone marrow stroma by fibrous tissue. It can be a primary bone marrow lesion as part of the chronic myeloproliferative disorders (chronic idiopathic myelofibrosis), a manifestation of acute myeloid leukemia (acute panmyelosis with myelofibrosis), or a secondary phenomenon due to bone marrow involvement by a metastatic tumor (e.g., metastatic breast carcinoma). --2003


bladder urothelial papilloma

description: A benign neoplasm of the bladder that involves the transitional epithelium projecting above the surrounding epithelial surface and consisting of villous or arborescent outgrowths of fibrovascular stroma.


metastatic squamous cell carcinoma

description: A squamous cell carcinoma which has spread from its original site of growth to another anatomic site.


name: metastatic malignant neoplasm in the spinal cord

description: A malignant neoplasm that has spread to the spinal cord from another anatomic site or system. Representative examples include carcinoma, lymphoma, and melanoma.


name: metastatic malignant neoplasm in the eye

description: A malignant neoplasm that has spread to the eye from another anatomic site.


salivary duct carcinoma

description: An aggressive, high grade adenocarcinoma that arises from the salivary glands. It usually affects elderly males and presents as a rapidly enlarging mass. It metastasizes to regional lymph nodes and distant anatomic sites.


extrarenal rhabdoid tumor

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


T-lymphoblastic lymphoma

description: The most frequent type of lymphoblastic lymphoma. It comprises approximately 85-90% of cases. It is more frequently seen in adolescent males. It frequently presents with a mass lesion in the mediastinum. Pleural effusions are common. (WHO, 2001)


malignant renal pelvis neoplasm

description: A primary or metastatic malignant neoplasm that affects the renal pelvis.


atypical lymphoproliferative disorder

description: A lymphoproliferative disorder characterized by the presence of an atypical lymphocytic infiltrate.


name: acute myeloid leukemia with mutated NPM1

description: An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features. It usually responds to induction therapy.


oral cavity carcinoma

description: A carcinoma arising in the oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma.


oropharyngeal carcinoma

description: Carcinoma, predominantly squamous cell, arising from the epithelial cells of the oropharynx.


rectal carcinoma

description: A malignant epithelial neoplasm that arises from the rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas.


name: paranasal sinus mucoepidermoid carcinoma

description: A rare carcinoma that arises from the paranasal sinus. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type.


oral cavity mucoepidermoid carcinoma

description: A mucoepidermoid carcinoma arising from the minor salivary glands in the oral cavity. It is often asymptomatic and detected during a routine dental examination.


eosinophil disorder

description: A disease or disorder that involves the eosinophil.


benign lipomatous neoplasm

description: A benign mesenchymal neoplasm composed of adipose (fatty) tissue. The most common representative of this category is the lipoma.


nasolacrimal duct disorder

description: A disease or disorder that involves the nasolacrimal duct.


lymphoid system disorder

description: A disease or disorder that involves the lymphoid system.


upper digestive tract disorder

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


mouth mucosa disorder

description: A disease or disorder that involves the mouth mucosa.


sympathetic nervous system disorder

description: A disease or disorder that involves the sympathetic nervous system.


parasympathetic nervous system disorder

description: A disease or disorder that involves the parasympathetic nervous system.


cerebral cortex disorder

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


midbrain disorder

description: A disease or disorder that involves the midbrain.


cardiac ventricle disorder

description: A disease or disorder that involves the cardiac ventricle.


vertebral disorder

description: A disease or disorder that involves the vertebra.


scrotal disorder

description: A disease or disorder that involves the scrotum.


skeletal ligament disorder

description: A disease or disorder that involves the skeletal ligament.


cholesterol metabolism disease

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


glycoprotein metabolism disease

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


steroid metabolism disease

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


disorder of extraembryonic membrane

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


name: tetrahydrobiopterin metabolic process disease

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


carbohydrate transport disease

description: A disease that has its basis in the disruption of carbohydrate transport.


cholesterol catabolic process disease

description: A disease that has its basis in the disruption of cholesterol catabolic process.


name: cholesterol biosynthetic process disease

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


creatine biosynthetic process disease

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


lactation disease

description: A disorder not necessarily related to pregnancy that is observed in females and males. It is characterized by disturbances of milk secretion. Causes include damage to the breast parenchyma due to inflammation, medications, pituitary tumors, and hypothyroidism.


glycine metabolism disease

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


disorder of organic acid metabolism

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


acquired adrenogenital syndrome

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


cancer or benign tumor

description: Any disorder that features disrupted cell proliferation. Includes hyperplasia, neoplastic syndrome and isolated neoplasm diseases as well as precancerous conditions.


opportunistic systemic mycosis

description: A mycosis that arises from infection in an immunologically compromised host and is systemic.


hyalohyphomycosis

description: An opportunistic infection caused by a heterogeneous group of mitosporic fungi with clear (hyalo-) hyphae in the host. Common causative agents include acremonium; aspergillus; chrysosporium; fusarium; paecilomyces; penicillium; pseudallescheria; scedosporium; and scopulariopsis. Normally a dermatomycoses, it can become invasive in the immunocompromised host.


disorder of uterine broad ligament

description: A disease or disorder that involves the broad ligament of uterus.


ligament disorder

description: A disease or disorder that involves the ligament.


selective IgG immunodeficiency

description: A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of immunoglobulin class G (IgG). Deficiencies of IgG present variably according to subclass. IgG deficiencies are typically relative among subclasses and not absolute. Thus even with a given selective IgG subclass deficiency, total IgG levels may still fall within normal range. The clinical course and prognosis is dependent upon the severity of the deficiency and associated morbidity.


inherited thyroid metabolism disease

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


neurosarcoidosis

description: A sarcoidosis that involves the nervous system.


toxemia of pregnancy

description: A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria.


nuclear cataract

description: A cataract (disease) that involves the lens nucleus.


cortical cataract

description: A cataract (disease) that involves the lens cortex.


benign osteogenic neoplasm

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


osteogenic neoplasm

description: A benign, intermediate, or malignant bone-forming neoplasm. Representative examples include osteoma, osteoblastoma, and osteosarcoma.


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).


glycogen-rich carcinoma

description: A carcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen. A representative example is the glycogen-rich, clear cell breast carcinoma.


grade II meningioma

description: An atypical meningioma which may recur in approximately 29-40% of the cases. This category includes the atypical meningioma, chordoid meningioma, and clear cell meningioma.


delirium

description: A disorder characterized by confusion; inattentiveness; disorientation; illusions; hallucinations; agitation; and in some instances autonomic nervous system overactivity. It may result from toxic/metabolic conditions or structural brain lesions. (From Adams et al., Principles of Neurology, 6th ed, pp411-2)


ACTH-producing pituitary gland neoplasm

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


name: intraductal cribriform breast adenocarcinoma

description: A ductal carcinoma in situ of the breast characterized by the presence of a cribriform architectural pattern.


name: major salivary gland adenoid cystic carcinoma

description: An aggressive carcinoma that arises from the major salivary glands. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues.


name: minor salivary gland adenoid cystic carcinoma

description: An aggressive carcinoma that arises from the minor salivary glands. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass.


minor salivary gland carcinoma

description: A carcinoma that arises from the minor salivary glands. Representative examples include adenoid cystic carcinoma, acinic cell carcinoma, polymorphous low grade adenocarcinoma, and mucinous adenocarcinoma.


digestive system melanoma

description: A melanoma that arises from any part of the digestive system.


mycosis fungoides variant

description: A header term that includes the rare following variants of mycosis fungoides: folliculotropic mycosis fungoides, granulomatous slack skin disease, and pagetoid reticulosis.


name: ectopic hormone secretion syndrome associated with neoplasia

description: Abnormal secretion of hormones in conjunction with neoplastic growth occurring anywhere in the body.


osteogenesis imperfecta, type 19

description: An X-linked recessive sub-type of osteogenesis imperfecta caused by mutation(s) in the MBTPS2 gene, encoding membrane-bound transcription factor site-2 protease. It is characterized by prenatal fractures and osteopenia, with severe short stature in adulthood. Variable dysmorphic features may occur including scoliosis, pectal deformity, and anterior angulation of the tibia.


name: avascular necrosis of femoral head, primary, 1

description: Necrotic changes in the bone tissue of the femoral head due to interruption of blood supply.


name: avascular necrosis of femoral head, primary, 2


name: congenital disorder of glycosylation, type IIq


name: short-rib thoracic dysplasia 17 with or without polydactyly


name: Noonan syndrome-like disorder with loose anagen hair 2

description: An inherited condition caused by autosomal dominant mutation(s) in the PPP1CB gene, encoding serine/threonine-protein phosphatase PP1-beta catalytic subunit. The condition is characterized by facial features similar to those seen in Noonan syndrome but may also include short stature, cognitive deficits, relative macrocephaly, small posterior fossa resulting in Chiari I malformation, hypernasal voice, cardiac defects, and ectodermal abnormalities, which typically presents as slow-growing, sparse, and/or unruly hair.


Stankiewicz-Isidor syndrome

description: A neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems.


name: microcephaly 18, primary, autosomal dominant


name: gaze palsy, familial horizontal, with progressive scoliosis, 2


name: Noonan syndrome-like disorder with loose anagen hair 1

description: An inherited condition caused by autosomal dominant mutation(s) in the SHOC2 gene, encoding leucine-rich repeat protein SHOC-2. The condition is characterized by facial features similar to those seen in Noonan syndrome but may also include short stature, cognitive deficits, relative macrocephaly, small posterior fossa resulting in Chiari I malformation, hypernasal voice, cardiac defects, and ectodermal abnormalities, which typically presents as slow-growing, sparse, and/or unruly hair.


name: combined oxidative phosphorylation deficiency 32


name: combined oxidative phosphorylation deficiency 33

description: An autosomal recessive condition caused by mutation(s) in the C1QBP gene, encoding complement component 1 Q subcomponent-binding protein, mitochondrial. The phenotype is highly variable.


name: myopathy, centronuclear, 6, with fiber-type disproportion


name: immunodeficiency 11b with atopic dermatitis

description: An autosomal dominant condition caused by mutation(s) in the CARD11 gene, encoding caspase recruitment domain-containing protein 11. It is characterized by the onset of moderate to severe atopic dermatitis in early childhood, defects in T-cell activation, increased IgE, and eosinophilia.


name: proteasome-associated autoinflammatory syndrome 1

description: An autosomal recessive condition caused by mutation(s) in the PSMB8 gene, encoding proteasome subunit beta type-8. It is characterized by early onset annular erythematous plaques, partial lipodystrophy, and recurrent fever.


name: proteasome-associated autoinflammatory syndrome 3


name: proteasome-associated autoinflammatory syndrome 2


name: microcephaly 19, primary, autosomal recessive


blepharocheilodontic syndrome 1

description: Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CDH1 gene.


name: combined oxidative phosphorylation deficiency 34


name: combined oxidative phosphorylation deficiency 35


name: polycystic liver disease 3 with or without kidney cysts

description: Any polycystic kidney disease in which the cause of the disease is a mutation in the ALG8 gene, that presents with or without kidney cysts.


name: amyotrophic lateral sclerosis, susceptibility to, 24


name: encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8


name: microcephaly 20, primary, autosomal recessive


name: neurodegeneration with brain iron accumulation 7


name: neurodegeneration with brain iron accumulation 8


name: amyloidosis, primary localized cutaneous, 3


name: epilepsy, familial focal, with variable foci 4


name: combined oxidative phosphorylation deficiency 36


name: multiple mitochondrial dysfunctions syndrome 6


name: hydrocephalus, congenital, 3, with brain anomalies


name: microcephaly 21, primary, autosomal recessive


name: microcephaly 22, primary, autosomal recessive


name: microcephaly 23, primary, autosomal recessive


Coffin-Siris syndrome 7

description: Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the DPF2 gene.


name: corneal dystrophy, posterior polymorphous, 4


name: charcot-marie-tooth disease, axonal, type 2DD


name: classic dopamine transporter deficiency syndrome

description: Classic Dopamine Transporter Deficiency Syndrome describes a subset of SLC6A3-related DTDS cases which present in early infancy. This disorder is usually first identified by neonatal distress and irritability, feeding difficulties, and motor developmental delay.


name: intellectual disability, autosomal dominant 57


name: cardiomyopathy, familial hypertrophic 27

description: An autosomal recessive subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the ALPK3 gene, encoding alpha-protein kinase 3.


name: polycystic kidney disease 6 with or without polycystic liver disease

description: Any polycystic kidney disease in which the cause of the disease is a mutation in the DNAJB11 gene.


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: intellectual disability, autosomal recessive 63


name: encephalopathy due to mitochondrial and peroxisomal fission defect


meconium ileus

description: Small intestinal obstruction that results from the impaction of thick meconium in the distal small intestine.


obstructive nephropathy

description: Renal damage and impaired renal function secondary to urinary tract obstruction.


name: neurodevelopmental disorder with midbrain and hindbrain malformations


disorder of appendix

description: A disease or disorder that involves the vermiform appendix.


synovium disorder

description: A disease or disorder that involves the layer of synovial tissue.


synovial bursa disorder

description: A disease or disorder that involves the synovial bursa.


sulfur metabolism disease

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


name: benign neoplasm of peripheral nervous system


name: benign peripheral nerve granular cell tumor

description: A benign granular cell tumor that involves the nerve.


non-small cell squamous lung carcinoma

description: A squamous cell carcinoma that arises from the lung. It is characterized by the presence of large malignant cells. It includes the clear cell and papillary variants of squamous cell carcinoma.


hormone-resistant breast carcinoma

description: Breast carcinoma that does not respond to hormone therapy.


hormone-resistant prostate carcinoma

description: Prostate carcinoma that does not respond to hormone therapy.


liver adenosquamous carcinoma

description: A rare carcinoma that arises from the intrahepatic bile ducts and is composed of malignant glandular cells and malignant squamous cells.


vulvar neuroendocrine carcinoma

description: A neuroendocrine carcinoma that arises from the vulva. This category includes small cell and large cell neuroendocrine carcinoma. Most small cell neuroendocrine carcinomas of the vulva are Merkel cell carcinomas.


rectal adenosquamous carcinoma

description: An unusual rectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas.


skin adenosquamous carcinoma

description: An uncommon carcinoma that arises from the skin. It is characterized by the presence of malignant glandular and malignant squamous cellular components.


name: nasal cavity and paranasal sinus carcinoma

description: A carcinoma arising from the nasal cavity or paranasal sinuses.


name: nasal cavity and paranasal sinus neoplasm

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


name: cerebral sclerosis, diffuse, scholz type


name: autoinflammation with arthritis and dyskeratosis


name: arthrogryposis multiplex congenita 1, neurogenic, with myelin defect


name: neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies

description: A rare genetic syndromic intellectual disability characterized by infantile onset of global developmental delay and profound intellectual disability in association with a heterogeneous spectrum of manifestations, such as features of lower motor neuron disease, hypotonia, spasticity, contractures, seizures, respiratory insufficiency, and optic atrophy, among others. Dysmorphic craniofacial features include microcephaly, tall forehead, bitemporal narrowing, flat nasal bridge, low-set ears, and high-arched palate. Brain imaging may show cerebral and cerebellar atrophy, delayed myelination, and thin corpus callosum.


name: neurodevelopmental disorder with involuntary movements


name: neurodevelopmental disorder with hypotonia, neuropathy, and deafness


name: neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies


name: retinal dystrophy with or without macular staphyloma


name: congenital heart defects and skeletal malformations syndrome


name: microcephaly, short stature, and limb abnormalities


name: congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay


name: cerebellar atrophy, developmental delay, and seizures


name: vertebral, cardiac, renal, and limb defects syndrome 1


name: vertebral, cardiac, renal, and limb defects syndrome 2


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


name: neurodevelopmental disorder with microcephaly, ataxia, and seizures


name: neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures


name: auditory neuropathy-optic atrophy syndrome


name: platelet abnormalities with eosinophilia and immune-mediated inflammatory disease


name: neuronopathy, distal hereditary motor, type 9


name: facial palsy, congenital, with ptosis and velopharyngeal dysfunction


name: immunodeficiency, developmental delay, and hypohomocysteinemia


name: neurodevelopmental disorder with dysmorphic facies and distal limb anomalies


name: combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia


name: neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy


name: neurodevelopmental disorder with severe motor impairment and absent language


name: neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter


name: glycosylphosphatidylinositol biosynthesis defect 15

description: A rare, genetic, syndromic intellectual disability characterized by global developmental delay, early-onset seizures, cerebellar atrophy, osteopenia, nystagmus and dysmorphic facial features, including bitemporal narrowing, prominent forehead, anteverted nares. Dysarthria, dysmetria, ataxic gait, spasticity and dysmorphic features have also been associated.


name: neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive


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


name: neurodevelopmental disorder with or without seizures and gait abnormalities


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


name: Leber congenital amaurosis with early-onset deafness


name: neurodevelopmental disorder with poor language and loss of hand skills


name: congenital heart defects, multiple types, 5


name: neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities


name: hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome

description: An autosomal dominant condition caused by mutations(s) in the CTBP1 gene, encoding C-terminal-binding protein 1. It is characterized by hypotonia, ataxia, developmental delay, and tooth enamel defects.


name: amyotrophic lateral sclerosis, susceptibility to, 25


name: epilepsy, juvenile myoclonic, susceptibility to, 10


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


name: spondyloepimetaphyseal dysplasia, di rocco type


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


name: deafness, congenital heart defects, and posterior embryotoxon


name: tumoral calcinosis, hyperphosphatemic, familial, 2


name: tumoral calcinosis, hyperphosphatemic, familial, 3


name: congenital disorder of glycosylation with defective fucosylation


name: glycosylphosphatidylinositol biosynthesis defect 17


name: humerofemoral hypoplasia with radiotibial ray deficiency


name: intellectual developmental disorder with or without epilepsy or cerebellar ataxia


name: neurodevelopmental disorder with spasticity and poor growth


name: spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits


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


name: intellectual developmental disorder with dysmorphic facies and behavioral abnormalities


name: neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum


name: intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities

description: Any BAFopathy in which the cause of the disease is a mutation in the BCL11B gene.


fibroepithelial polyp

description: A polypoid lesion composed of fibrous tissue and epithelium. Representative examples include skin tag, anal fibroepithelial polyp, and gingival fibroepithelial polyp.


anal polyp

description: A non-neoplastic or neoplastic polypoid lesion that arises from the anus. Representative examples include the fibroepithelial polyp and squamous papilloma.


gingival fibroepithelial polyp

description: A non-neoplastic nodular lesion that arises from the gingiva. It is composed of epithelial cells lining connective tissue stroma.


vaginal fibroepithelial polyp

description: A superficial polypoid lesion that arises from the vagina. It is characterized by the presence of a fibroblastic stroma which is often myxoid, covered by squamous epithelial cells.


cervical fibroepithelial polyp

description: A usually solitary polypoid lesion that arises from the cervix. It usually affects women in their reproductive years. It is characterized by the presence of a connective tissue core and overlying epithelium.


adult Fanconi syndrome

description: Probably related to a recessive gene, this is Fanconi Syndrome, characterized by adult onset.


acquired Fanconi syndrome

description: Fanconi Syndrome caused by exposure to noxious agents.


name: premalignant hematological system disease

description: A hematologic disorder which does not display the morphologic and/or clinical characteristics of an overt malignancy. Representative examples include atypical lymphoproliferative disorders and myelodysplastic syndromes.


classic congenital adrenal hyperplasia

description: A severe form of congenital adrenal hyperplasia characterized by very low or absent activity of an enzyme in the steroidogenic pathway typically presenting early in life, and requiring life-long cortisol replacement.


name: MED12-related intellectual disability syndrome

description: An X-linked syndromic intellectual disability that that includes subtypes of the heterogeneous, eponymously named Lujan-Fryns syndrome, X-linked Ohdo syndrome, and Optiz-Kaveggia/ FG syndrome, which is caused by mutations in the gene MED12. The common and most penetrant phenotype shared amongst these disease entities is intellectual disability, with dysgenesis or agenesis of the corpus callosum, blepharophimosis, and marfanoid habitus having variable phenotypic expressivity.


alpha-gal syndrome

description: An IgE antibody response to a mammalian oligosaccharide epitope, galactose-alpha-1,3-galactose (alpha-gal).


name: food protein-induced allergic proctocolitis

description: A benign inflammatory colitis caused by a non-IgE-mediated immune reaction to ingested food proteins.


name: susceptibility to angioedema induced by ACE inhibitors

description: An inherited susceptibility or predisposition to developing renin-angiotensin-aldosterone system-blocker-induced angioedema.


mast cell activation syndrome

description: A clinically defined disease states with a largely unknown morphological background. Acute mast cell activation (MCA) is commonly seen in allergic reactions and often leads to the clinical signs and symptoms of anaphylaxis. Severe or even life‐threatening MCA may occur when the burden of mast cells is high and/or these cells are in an hyperactivated state. Mastocytosis may be associated with mast cell activation syndrome (MCAS).


secondary mast cell activation syndrome

description: Mast cell activation syndrome where an underlying inflammatory disease is present, often in the form of an IgE-dependent allergy, but there are no KIT-mutated mast cells.


name: food protein-induced enterocolitis syndrome

description: An eosinophilic gastrointestinal disorder triggered by food that is non-IgE-mediated.


name: structural congenital heart disease, multiple types - GATA4

description: Any congenital heart disease in which the cause of the disease is a mutation in the GATA4 gene.


tendinopathy

description: Disorders that are causes by overuse of tendons.


tendinosis

description: The chronic degeneration of a tendon without inflammation.


paratenonitis

description: Inflammation of the outer layer of the tendon (paratenon) alone, whether or not the paratenon is lined by synovium.


paratenonitis with tendinosis

description: Paratenonitis associated with intratendinous degeneration.


autoimmune retinopathy

description: An autoimmune disease characterized by sudden onset of photopsias and scotomata in patients with no family history of retinitis pigmentosa, followed by visual field and central vision loss.


pityriasis rubra pilaris

description: A group of skin conditions that cause constant inflammation and scaling of the skin. People with PRP have reddish, scaly patches that may occur everywhere on the body, or only on certain areas. Some people with PRP also develop thickened skin on the underside of the hands and feet (palmoplantar keratoderma), various nail abnormalities, and/or thinning of the hair. There are several types of PRP classified by age when symptoms begin, body areas involved, and whether other conditions are present. This condition occurs in adults (adult onset PRP) as well as children (juvenile onset PRP).


adult onset pityriasis rubra pilaris

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


ECHS1-related paroxysmal dyskinesia

description: A paroxysmal dyskinesia which manifest as dystonic movements brought on by sustained exercise, that is correlated with a deficiency in the gene ECHS1 (caused by a missence mutation). Onset is typically between age two and four years.


name: atypical childhood epilepsy with centrotemporal spikes

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


photosensitive occipital lobe epilepsy

description: A childhood-onset epilepsy that is characterized by the presence of visually-induced focal occipital lobe seizures. A proportion of patients with this syndrome have developmental delays and learning difficulty.


neonatal/infantile epilepsy syndrome

description: An epilepsy sydrome that has an onset during the neonatal or infantile stage of life.


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.


name: self-limited familial infantile epilepsy

description: This syndrome is characterized by the onset of seizures between 3 and 20 months of age (peak 6 months). Seizures may be frequent at onset but usually remit within 1 year from the onset. In untreated cases there can be isolated or brief clusters of seizures within the period from onset to remission. A minority of individuals may have epilepsy in later life. Some patients (with PRRT2 mutations) may develop paroxysmal kinesiogenic dyskinesia in later life.


name: epilepsy of infancy with migrating focal seizures

description: This syndrome is characterized by onset of refractory focal seizures in the first year of life, with associated severe encephalopathy. Focal seizures arise independently in both hemispheres and can migrate from one cortical region to another randomly but consecutively in the same seizure. Seizures are often prolonged with episodes of status epilepticus. Prognosis is poor with severe neurological disability and reduced life expectancy, although a milder evolution has been reported in a few children.


name: myoclonic encephalopathy in non-progressive disorder

description: This group of epilepsies are typically is characterized by onset of seizures from day 1 of life to 5 years (peak 12 months). Both sexes are affected, however the male to female ratio is 1:2. Antecedent (including birth) history, head size, neurological and developmental findings reflect the underlying cause (if known). Myoclonic status epilepticus is often the initial presenting seizure type, however other initial seizure types may also occur. Prognosis is unfavorable with severe neurological and developmental impairments typically seen.


immune epilepsy

description: Epilepsies that have a distinct immune-mediated etiology with evidence of central nervous system inflammation, that has been demonstrated to be associated with a substantially increased risk of developing epilepsy.


antibody mediated epilepsy

description: An immune epilepsy where the underlying cause is antibody mediated.


description: An epilepsy syndrome that has an onset during the adolescent or adult stage of life.


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

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


metabolic epilepsy

description: Metabolic epilepsies are conceptualized as having a distinct metabolic abnormality that has been demonstrated to be associated with a substantially increased risk of developing epilepsy in appropriately designed studies. Metabolic disorders have genetic origin; however, the metabolic abnormalities are a separate disorder interposed between the genetic defect and the epilepsy.


cerebral folate deficiency

description: Cerebral folate deficiency is defined as a neurological syndrome associated with low CSF 5-methyltetrahydrofolate (5MTHF), the active folate metabolite, in the presence of normal folate metabolism outside the nervous system. Cerebral folate deficiency can result from either disturbed folate transport or from increased folate turnover within the central nervous system.


structural epilepsy

description: Structural epilepsies are conceptualized as having a distinct structural brain abnormality that has been demonstrated to be associated with a substantially increased risk of epilepsy in appropriately designed studies. The structural brain abnormality can be acquired (such as due to stroke, trauma or infection) or may be of genetic origin; however, as we currently understand it, the structural brain abnormality is a separate disorder interposed between the acquired or genetic defect and the epilepsy.


variable age onset epilepsy

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


juvenile onset pityriasis rubra pilaris

description: A pityriasis rubra pilaris that has a juvenile onset. The peak incidence has a bimodal distribution, with the first peak at age six to seven yearss. The classical childhood-onset subtype of PRP usually develops in the late teenage years but may also be seen in the first few years of life.


complex neurodevelopmental disorder

description: A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy).


CDKL5 disorder

description: A monogenic disease that has material basis in mutation in the CDKL5 gene.


FOXG1 disorder

description: A monogenic disease that has material basis in mutation in the FOXG1 gene.


secondary trimethylaminuria

description: A type of trimethylaminuria that occurs as the result of treatment with large doses of dietary precursors of the offending chemical. Symptoms develop when the ability of the liver enzyme (flavin-containing monooxygenase 3) is insufficient to break down (metabolize) the excess trimethylamine.


cardiac conduction defect

description: The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).


name: epidermodysplasia verruciformis, susceptibility to


name: epidermodysplasia verruciformis, susceptibility to, 1


exfoliation syndrome, susceptibility to

description: An inherited susceptibility or predisposition to developing exfoliation syndrome.


basal cell carcinoma, susceptibility to

description: An inherited susceptibility or predisposition to developing basal cell carcinoma.


name: graft-versus-host disease, susceptibility to

description: An inherited susceptibility or predisposition to developing graft vs. host disease.


narcolepsy, susceptibility to

description: An inherited susceptibility or predisposition to developing narcolepsy.


Usher syndrome, type 1D/F

description: Any Usher syndrome in which the cause of the disease is a mutation in the CDH23 and PCDH15 genes.


name: idiopathic mast cell activation syndrome

description: Mast cell activation syndrome where neither an allergy or other underlying disease is association, nor KIT-mutated mast cells are detectable.


name: acetazolamide-responsive hereditary episodic ataxia

description: Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days, with improvement upon therapy with acetazolamide.


anaphylaxis

description: An acute hypersensitivity reaction that occurs from exposure to an allergen. It results from the release of histamine and histamine-like substances from mast cells, and can present with breathing difficulty due to narrowed airways, dizziness and hypotension, skin rash, weak pulse, nausea and vomiting.


idiopathic anaphylaxis

description: Idiopathic anaphylaxis is a rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment.


name: intraosseous spindle cell rhabdomyosarcoma with TFCP2/NCOA2 rearrangements

description: Intraosseous spindle cell rhabdomyosarcoma characterized by the fusion of the EWSR1 or FUS gene with the TFCP2 gene, or the MEIS1 gene with the NCOA2 gene.


exercise-induced anaphylaxis

description: A rare disorder in which anaphylaxis occurs in association with physical activity.


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


description: Elevated levels of plasma valine and leucine/isoleucine levels, associated with symptoms of headache and mild memory loss and attributed to biallelic variants in the BCAT2 gene. BCAT2 encodes branched-chain aminotransferase 2 which catalyzes the transamination of the branched chain amino acids to their respective α-keto acids.


name: hypereosinophilia of undetermined significance

description: Long-lasting, unexplained and asymptomatic blood hypereosinophilia.


name: congenital/infantile spindle cell rhabdomyosarcoma with VGLL2/NCOA2/CITED2 rearrangements

description: Congenital/infantile spindle cell rhabdomyosarcoma characterized by the presence of gene fusions involving the VGLL2, SRF, TEAD1, NCOA2, and CITED2 genes.


PRPS1 deficiency disorder

description: A peripheral neuropathy that is characterized by variants in PRPS1, which causes decreased or impaired function of the PRPS1 enzyme, and presents as a range of peripheral neuropathies that can include features of Charcot-Marie Tooth syndrome, Arts syndrome, or nonsyndromic hearing loss.


name: developmental and epileptic encephalopathy

description: A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity.


Pericytoma with t(7;12)

description: A rare soft tissue neoplasm that displays a perivascular pattern of spindle-to-ovoid cell proliferation.


tyrosine hydroxylase deficiency

description: Tyrosine hydroxylase (TH) deficiency is an autosomal recessive disorder characterized by a spectrum of phenotypic features, based on severity and response to levodopa. It can be broadly categorized into TH-deficient dopa-responsive dystonia (mild, with dramatic and sustained response to levodopa), TH-deficiency infantile parkinsonism with motor delay (severe, with incomplete response to levodopa), and TH-deficiency infantile encephalopathy (very severe, with little to no response to levodopa).


name: TH-deficient infantile parkinsonism and motor delay

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


name: TH-deficient progressive infantile encephalopathy

description: A tyrosine hydroxylase deficiency in which individuals are extremely sensitive to levodopa therapy. In this very severe form, treatment with levodopa is often limited by intolerable dyskinesias.


childhood spindle cell rhabdomyosarcoma

description: A spindle cell rhabdomyosarcoma occurring in children.


name: SLC10A7-congenital disorder of glycosylation

description: SLC10A7 deficiency is characterized by compound heterozygous mutations in the SLC10A7 gene, a gene of unknown function in humans. It combines overlapping clinical phenotypes characterized by short stature, defective enamel formation (amelogenesis imperfecta), skeletal dysplasia, facial dysmorphism, moderate hearing impairment and mildly impaired intellectual developmen.


name: hearing impairment and infertile male syndrome

description: A syndromic genetic deafness characterized by segregation of nonsyndromic hearing loss in females and hearing loss with infertility in males. Affected males have been reported to have low count to absent sperm, immobile sperm, and/or sperm with abnormal morphology.


neuroendocrine disorder

description: A disease or disorder that affects the neuroendocrine gland, any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli.


cardiocutaneous syndrome

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


description: Neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts is characterized by the three primary phenotypes of neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts. Cases have reported additional varying phenotypes, including optic atrophy, hypothyroidism, severe neonatal hypotonia in males, developmental delay, facial abnormalities, and a few other more rare phenotypes. The severity and congenital onset of the phenotypes distinguish these patients from Wolfram-like syndrome patients.


name: methicillin-resistant staphylococcus aureus infectious disease

description: Infections caused by a strain of Staphylococcus aureus that is non-susceptible to the action of the antibiotic, methicillin. The mechanism of resistance usually involves modification of normal or the presence of acquired penicillin binding proteins.


norovirus infectious disease

description: Infections caused by viruses of the genus in the family caliciviridae, which is associated with epidemic gastroenteritis in humans.


juvenile idiopathic scoliosis

description: A scoliosis with no known cause arising in a juvenile.


congenital alveolar dysplasia

description: A congenital alveolar dysplasia characterized anatomically by a defective and hypoplastic development of pulmonary alveoli that is commonly associated with atelectasis and can be responsible for atelectasis.


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: 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.


cardioectodermal syndrome

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


sleep disorder

description: A change from the patient's baseline sleeping pattern, in the hours slept and/or an alteration/dysfunction in the stages of sleep.


LEOPARD syndrome 1

description: Any Noonan syndrome with multiple lentigines in which the cause of the disease is a heterozygous mutation in the PTPN11 gene on chromosome 12q24.


name: hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

description: This is an autosomal dominant disorder caused by mutations in the RUNX1 gene and is characterized by mild to moderate thrombocytopenia, platelet functional and/or ultrastructural defects and a predisposition to hematologic malignancies, most often AML and MDS, and less frequently T-ALL.


alpha-actinopathy

description: A musculoskeletal system disorder that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle α-actin gene (ACTA1). These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, myopathic face, respiratory dysfunction, and rarely cardiac involvement. Specific skeletal muscle structural lesions visible on muscle biopsy include actin accumulations, nemaline and intranuclear bodies, fiber-type disproportion, cores, caps, dystrophic features and zebra bodies. Disorders associated with ACTA1 pathogenic variants can have autosomal dominant (90%) or recessive (10%) inheritance.


cancer of long bone of upper limb

description: A cancer that involves the upper limb long bone.


perinatal disease

description: A condition affecting an unborn or newly born individual, where the perinatal period is defined in humans as commencing at 22 completed weeks (154 days) of gestation and ending seven completed days after birth. Other, broader definitions of perinatal period cover five months before birth to one month after birth.


familial Alzheimer disease

description: A degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. About 25% of all Alzheimer disease is familial (more than 2 people in a family have AD). When Alzheimer disease begins before 60 or 65 years of age (early-onset AD) about 60% of the cases are familial (also known as Early-onset familial AD). These cases appear to be inherited in an autosomal dominant manner.


GATA1-Related X-Linked Cytopenia

description: X-Linked cytopenia characterized by anemia and/or thrombocytopenia. Additional features including platelet dysfunction, dyserythropoesis, mild beta-thalassemia, neutropenia, or congenital erythropoetic porphyria may be present. These GATA1 variants are germline as opposed to GATA1 variants seen in leukemia.


name: congenital alveolar dysplasia due to FGF10

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


inherited pseudoxanthoma elasticum

description: An inheritable form of pseudoxanthoma elasticum (PXE), that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs (claudication); or bleeding in the gastrointestinal tract, particularly the stomach. A clinical diagnosis of PXE can be made when an individual is found to have both the characteristic eye findings and yellow bumps on the skin. ABCC6 is the only gene known to be associated with this condition. Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders, and by having regular physical examinationswith their primary physician.


myoclonus, familial, 2

description: Familial cortical myoclonus caused by heterozygous mutation in the SCN8A gene on chromosome 12q13.


myoclonus, familial, 1

description: Familial cortical myoclonus caused by heterozygous mutation in the NOL3 gene on chromosome 16q22.


cannabinoid hyperemesis syndrome

description: A syndrome of cyclic vomiting associated with cannabis use. Fourteen diagnostic characteristics have been identified, and the frequency of major characteristics is as follows: history of regular cannabis for any duration of time (100%), cyclic nausea and vomiting (100%), resolution of symptoms after stopping cannabis (96.8%), compulsive hot baths with symptom relief (92.3%), male predominance (72.9%), abdominal pain (85.1%), and at least weekly cannabis use (97.4%). Supportive care with intravenous fluids, dopamine antagonists, topical capsaicin cream, and avoidance of narcotic medications has shown some benefit in the acute setting. Cannabis cessation appears to be the best treatment.


name: neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures

description: Autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development, with cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable. The cause is mutations in the ADPRHL2 gene.


description: A disease caused by infection with severe acute respiratory syndrome coronavirus 2.


name: congenital alveolar dysplasia due to TBX4

description: Any congenital alveolar dysplasia in which the cause of the disease is a mutation in the TBX4 gene.


name: dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive

description: A dopa-responsive dystonia characterized by marked motor delay, but no intellectual disability, and only minimal, if any, hyperphenylalaninemia.


retrograde cricopharyngeus dysfunction

description: A syndrome characterized by the inability to belch, abdominal bloating and discomfort/nausea, or chest pain, especially after eating, socially awkward gurgling noises from the chest and lower neck as though the esophagus is churning and straining to eject the air, excessive flatulence, social inhibition, and difficulty vomiting (common but not universal). Botulinum toxin (BT) injection into the cricopharyngeus muscle (CPM) is done for both diagnosis and treatment of R-CPD.


SELENON-related myopathy

description: Myopathy caused by pathogenic variants in SELENON that is congenital or present early in childhood with neonatal hypotonia, delayed motor development, axial muscle weakness, scoliosis, and significant respiratory involvement. Spinal rigidity of varying severity is often present.


fetal akinesia deformation sequence 1

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


fetal akinesia deformation sequence 2

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


fetal akinesia deformation sequence 3

description: Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the DOK7 gene.


fetal akinesia deformation sequence 4

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


brain small vessel disease 3

description: An autosomal recessive disorder resulting from fragility of cerebral vessels causing an increased risk of intracranial bleeding. The resultant phenotype is highly variable depending on timing and location of the intracranial bleed. Some patients may have onset in utero or early infancy, with subsequent global developmental delay, spasticity, and porencephaly on brain imaging. Other patients may have normal or mildly delayed development with sudden onset of intracranial hemorrhage causing acute neurologic deterioration.


name: non-neonatal early infantile epileptic encephalopathy

description: Non-neonatal early-onset epileptic encephalopathy is a form an of age-related epileptic encephalopathies, characterized by the onset of seizures later than the first 4 weeks of life but within the first three months. Seizures can be generalized or lateralized, independent of the sleep cycle and can occur multiple times per day, leading to psychomotor impairment and death.


TPM3-related myopathy

description: TPM3-related myopathy is a disorder of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle γ-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, motor delay, myopathic facies, scoliosis, and sometimes respiratory involvement. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, fiber-type disproportion, and dystrophic features even in patients with the same mutation.


Zinner syndrome

description: A rare condition comprising a triad of unilateral renal agenesis, ipsilateral seminal vesicle obstruction and ipsilateral ejaculatory duct obstruction.


name: focal segmental glomerulosclerosis and neurodevelopmental syndrome

description: A Mendelian diseases characterized by global developmental delay and renal dysfunction manifest as proteinuria and nephrotic syndrome apparent from infancy or early childhood. Some patients present with renal disease, whereas others present with developmental delay and develop renal disease later in childhood. Renal biopsy shows focal segmental glomerulosclerosis (FSGS), but the course of the disease is variable: some patients have transient proteinuria and others require renal transplant. Neurodevelopmental features are also variable, with some patients having only mildly impaired intellectual development, and others having a severe developmental disorder associated with early-onset refractory seizures or epileptic encephalopathy. Additional features, including feeding difficulties, poor overall growth, and nonspecific dysmorphic facial features, are commonly observed.


name: acyl-CoA binding domain containing protein 5 deficiency

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


hearing loss with skin disease

description: Nonsyndromic deafness, keratitis-ichthyosis-deafness syndrome, and palmoplantar keratoderma with deafness have all been associated with autosomal dominant variants in GJB2. Reported cases share hearing loss as a feature, therefore it is likely that these phenotypes exist along a spectrum of the same disease, differing in severity of skin phenotypes.


dry age related macular degeneration

description: Dry age related macular degeneration is characterized by the presence of age-related deposits called drusen and atrophy.


acute flaccid myelitis

description: An acute onset of focal limb weakness that is associated mainly with gray matter abnormalities or CSF pleocytosis, but which is without an apparent cause.


Middle East respiratory syndrome

description: A viral respiratory infection that is caused by the MERS coronavirus (MERS-CoV), which most often manifests with moderate to severe respiratory symptoms, including productive cough and shortness of breath, which can progress to pneumonia and acute respiratory distress syndrome.


hereditary skin disorder

description: An instance of skin disease that is caused by a modification of the individual's genome.


vector-borne disease

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


name: SCN4A-related myopathy, autosomal recessive

description: Any congenital myopathy in which the cause of the disease is a mutation in the SCN4A gene. It include is a spectrum of autosomal recessive disorders including congenital myasthenic syndrome, fetal hypokinesia, and congenital myopathy.


GNPTAB-mucolipidosis

description: An autosomal recessive mucolipidosis disorder caused by bi-allelic variants in the GNPTAB gene. Symptoms of this condition occur across a clinical spectrum including mucolipidosis type II (ML II) and mucolipidosis type III alpha/beta (ML IIIα/β), and phenotypes intermediate between ML II and ML IIIα/β.


toxic bronchiolitis

description: Bronchiolitis as a response to a toxic exposure.


NAA10-related syndrome

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


description: A perceptual disorder caused by intoxication with hallucinogen drugs, especially LSD. It is characterized by the recurrence of perceptive disturbances that first develop during intoxication. The contents of the perception and visual imagery range extensively and symptoms may include visual disturbances, hallucinations, and psychoses.


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.


toxic bronchiolitis obliterans

description: Toxic bronchiolitis whereby a biospy has shown an obliteration of broncioles.


coinfection

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


intracranial arachoid cyst

description: A cystic malformation that is characterized by extraparenchymal, nonneoplastic accumulations of fluid with density similar to that of cerebrospinal fluid.


name: adult acute respiratory distress syndrome

description: A very severe form of acute pulmonary failure secondary to capillary permeability impairment. The symptoms include dyspnea, hypotension and multivisceral failure. The disease is characterized by bilateral pulmonary infiltrates and severe hypoxemia due to increased alveolar-capillary permeability. The severity depends on the degree of alveolar epithelial injury, with a mortality rate of 30-50%.


name: pediatric acute respiratory distress syndrome

description: Acute respiratory distress syndromet that occurs in pediatric patients and includes findings of new infiltrates (unilateral or bilateral) consistent with acute parenchymal disease, edema not fully explained by fluid overload or cardiac failure, and may present as new acute lung disease in setting of chronic lung disease and/or heart disease, and perinatal lung disease is excluded.


name: intrahepatic bile duct adenosquamous carcinoma

description: An adenosquamous carcinoma that arises from the intrahepatic bile ducts.


mitochondrial complex I deficiency

description: A type of mitochondrial disease charcterized by macrocephaly (large head) with progressive leukodystrophy, encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. The disease is caused by mutations in any of many genes and the inheritance pattern depends on the responsible gene.


name: mitochondrial complex I deficiency, mitochondrial type


Dravet syndrome

description: Dravet syndrome is a channelopathy with epilepsy of with onset during the first year of life, typically 4-5 months, characterized by status epilepticus and a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Dravet differs from other channelopathies usually due to a mutation in SCN1A.


telomere syndrome

description: Accelerated aging syndromes often caused by inheritable gene mutations resulting in decreased telomere lengths.


name: X-linked recessive mitochondrial myopathy

description: A mitochondrial myopathy caused by defects in the MICOS subunit gene APOO (MIC26). Modelling in yeast and flies demonstrate an inability to insert MICOS complex into the inner mitohondrial membrane. Associated symptoms include, lactic acidosis, cognitive impairment and autistic features.


Uner Tan Syndrome

description: A tubulinopathy with material basis in TUBB2B that is characterized by variations in R390Q, quadrupedal locomotion, cerebellar hypoplasia and does not have basal ganglia malformations.


ATP6AP2-related disorder

description: Variants in the gene ATP6AP2 have been associated with a multitude of diseases, including X-linked syndromic ID Hedera type, X-linked Parkinsonism-spasticity syndrome, and congenital disorder of glycosylation type 2R. Phenotypes include global developmental delay, intellectual disability, progressive neurologic decline, spasticity, seizures, infantile onset of liver failure, recurrent infections, dysmorphic features, and features of parkinsonism (rigidity, resting tremor, bradykinesia). These phenotypes do not appear in all individuals with one of the above disease assertions, but many are overlapping phenotypes.


SATB2 associated disorder

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


name: X-linked complex neurodevelopmental disorder

description: A complex neurodevelopmental disorder that is transmitted via X-linked inheritance, and is characterized by intellectual disability, autism and epilepsy.


name: PNPLA6-related spastic paraplegia with or without ataxia

description: An autosomal recessive, multisystem condition caused by pathogenic variants of the PNPLA6 gene that characterized by peripheral neuropathy, cognitive impairment, lower limb spasticity, muscle weakness, and reduced vibration sense. Additional clinical features may include cerebellar ataxia, hypogonadism, growth hormone deficiency, and hypothyroidism.


RYR1-related myopathy

description: A disorder of the musculoskeletal system caused by pathogenic variants in the RYR1 gene, which encodes the ryanodine receptor type 1 protein. These variants are associated with a variety of overlapping features characterized by symmetric proximal muscle weakness, often with pronounced facial weakness with or without dysmorphism and ophthalmoparesis/ophthalmoplegia with ptosis, bulbar weakness, significant respiratory involvement, severe neonatal hypotonia, scoliosis, orthopedic deformities including arthrogryposis, hip dislocation, club feet, and King Denborough syndrome (pectus carinatum or excavatum, short stature, joint contractures, facial and skeletal deformities), malignant hyperthermia susceptibility, anesthesia-induced rhabdomyolysis, fatigue, exercise-induced hyperthermia/exertional heat stroke, and exertional myalgia. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include central core disease, multiminicore disease, cone-rod myopathy, centronuclear myopathy, and congenital fiber-type disproportion.


nephropathic cystinosis

description: An autosomal recessive condition caused by mutation(s) in the CTNS gene, encoding cystinosin. It is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction.


DKC1-related disorder

description: Any dyskeratosis congenita in which the cause of the disease is a mutation in the DKC1 gene.


tubulinopathy

description: A nervous system disorder characterized by complex cortical malformations including in most cases dysmorphic basal ganglia and/or corpus callosum in which the cause of the disease is a variation in a tubulin gene.


TUBB3-related tubulinopathy

description: A tubulinopathy syndrome associated with malformations of cortical development, axon guidance defects, white matter abnormalities, and/or congenital fibrosis of the extraocular muscles (CFEOM), due to de novo or dominantly inherited variants with high penetrance. Individuals may present with variable combinations of malformations of cortical development, dysplasia of the basal ganglia, brainstem, and/or cerebellum, CFEOM, additional cranial nerve involvement, Kallmann syndrome, cyclic vomiting, peripheral neuropathy, and/or contractures. Developmental delays, intellectual disability, ocular motor apraxia, and mirror movements are also frequent features.


name: retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome

description: An autosomal recessive, multisystem condition caused by pathogenic variants of the PNPLA6 gene, encoding the patatin like phospholipase domain containing 6 protein. RAPH syndrome is characterized by hypogonadism, cerebellar ataxia, retinal dystrophy, peripheral neuropathy, growth hormone deficiency, and cognitive impairment. Additional clinical features may include lower limb spasticity, trichomegaly, alopecia, and facial dismorphism. The term lumps Boucher-Neuhauser, Gordon Holmes, Laurence-Moon, and Oliver-McFarlene syndromes.


Imerslund-Grasbeck syndrome type 1

description: An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but sometimes occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Some patients may present later in childhood with neurologic abnormalities related to B12 deficiency, such as sensorimotor neuropathy and/or cognitive disturbances.


Imerslund-Grasbeck syndrome type 2

description: An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but usually occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Treatment with vitamin B12 results in sustained clinical improvement of the anemia. The proteinuria is nonprogressive, and affected individuals do not have deterioration of kidney function; correct diagnosis is important to prevent unnecessary treatment. The disorder results from a combination of vitamin B12 deficiency due to selective malabsorption of the vitamin, and impaired reabsorption of LMW proteins in the proximal renal tubule. These defects are caused by disruption of the AMN/CUBN complex that forms the 'cubam' receptor responsible for intestinal uptake of B12/GIF (CBLIF).


name: CHRNG-associated hypo-akinesia disorder of prenatal onset

description: A spectrum of presentations resulting from biallelic protein-altering variation in CHRNG. Inactivation of the receptor during early development leads to prenatal hypo-akinesia; subsequent phenotypes are a consequence of this hypo-akinesia and are thought to be dependent upon timing and severity of the anomaly at the neuromuscular junction. A range of phenotypes varying in severity (including both lethal and non-lethal presentations) have been reported, but typically include joint contractures, pterygia, dysmorphic features, vertebral and thoracic anomalies, and additional variable abnormalities. There are no clear genotype-phenotype correlations between the lethal and non-lethal presentations of this spectrum; both inter- and intra-familial variability have been reported, with the same variants being observed in both lethal and non-lethal cases.


pulmonary hypertension, neonatal

description: Abnormally high blood pressure in a newborn child.


alcoholic ketoacidosis

description: An acute disease characterized by severe ketoacidosis in the absence of diabetes mellitus and occurring in individuals with a history of prolonged excessive alcohol consumption. Disease manifestations include nausea, intractable vomiting, and abdominal pain. When treated, AKA resolves rapidly and completely with no apparent sequelae.


hyperkalemic renal tubular acidosis

description: Renal tubular acidosis (RTA) that is caused by a generalized transport abnormality of the distal tubule. The transport of electrolytes such as sodium, chloride, and potassium that normally occurs in the distal tubule is impaired. This form is distinguished from classical distal RTA and proximal RTA because it results in high levels of potassium in the blood instead of low levels.


name: IKBKG-related immunodeficiency with or without ectodermal dysplasia

description: Any recessive immunodeficiency (ID), with or without ectodermal dysplasia (EDA), in which the cause of the disease is mutation in the IKBKG gene. ID/EDA-ID patients, always males, are hemizygous for an IKBKG (NEMO) mutation that preserves residual NF-κB activation (hypomorphic mutations) and may also present with osteopetrosis and lymphoedema (OL-EDA-ID).


name: COVID-19–associated multisystem inflammatory syndrome in children

description: A inflammatory syndrome in children infected by the SARS-CoV-2 with similarities to Kawasaki disease. Clinical manifestations range from fever and inflammation to myocardial injury, shock, and development of coronary artery aneurysms.


permanent neonatal diabetes mellitus

description: Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.


permanent neonatal diabetes mellitus 1

description: A rare autosomal recessive disorder characterized by severe hyperglycemia which requires insulin treatment soon after birth. The disorder results from a complete lack of glucokinase; total absence of basal insulin release was observed as well.


PPP2R1A-related intellectual disability

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


name: pulmonary disease, chronic obstructive, susceptibility to

description: An inherited susceptibility or predisposition to developing COPD.


name: desmoid tumor caused by somatic mutation


name: polyneuropathy, inflammatory demyelinating, chronic


name: restless legs syndrome, susceptibility to

description: An inherited susceptibility or predisposition to developing restless legs syndrome.


psoriasis, susceptibility to

description: An inherited susceptibility or predisposition to developing psoriasis.


name: intellectual disability, autosomal dominant


name: leukemia, acute myeloid, susceptibility to

description: An inherited susceptibility or predisposition to developing leukemia, acute myeloid.


name: age related macular degeneration, susceptibility to

description: An inherited susceptibility or predisposition to developing age related macular degeneration.


TTN-related myopathy

description: A disorder of the musculoskeletal system caused by pathogenic variants in the TTN gene encoding the titin protein expressed in striated muscle. These variants are associated with a variety of overlapping congenital and adult-onset myopathies characterized by non-progressive or progressive neck, axial, and limb weakness, joint contractures, early-onset respiratory insufficiency, facial weakness, congenital cardiac anomalies and/or early-onset dilated cardiomyopathy. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include increased internalized and central nuclei, minicores, and dystrophic changes.


AP-4 deficiency syndrome

description: A genetic disorder associated with variation(s) in the AP4 genes: AP4B1, AP4E1, AP4M1, and AP4S1. The phenotypes observed in individuals with genetic variants in these genes are often complex and include intellectual disability, spastic paraplegia, microcephaly, brain abnormalities, and seizures.


allergic rhinitis, susceptibility to

description: An inherited susceptibility or predisposition to developing allergic rhinitis.


dermatitis, atopic, susceptibility to

description: An inherited susceptibility or predisposition to developing atopic dermatitis.


Hirschsprung disease, susceptibility to

description: An inherited susceptibility or predisposition to developing Hirschsprung disease.


diabetes mellitus, ketosis-prone

description: An inherited susceptibility or predisposition to developing diabetes mellitus, ketosis.


dermatitis, atopic, 1

description: An inherited susceptibility or predisposition to developing atopic dermatitis. A genomewide linkage study revealed highly significant evidence for linkage on 3q21 (ATOD1) at marker D3S3606.


schizophrenia, susceptibility to

description: An inherited susceptibility or predisposition to developing schizophrenia.


name: radioulnar synostosis, nonsyndromic, susceptibility to

description: A susceptibility or predisposition to radioulnar synostosis in which the cause of the disease is a mutation in the SMAD6 gene.


GTP cyclohydrolase I deficiency

description: A disease characterized by a deficiency in GTP cyclohydrolase I, which leads to a consequent reduction in BH4 and reduces the activity of three BH4-cofactor dependent enzymes - phenylalanine hydroxylase, tyrosine hydroxylase, and tryptophan hydroxylase. GTP cyclohydrolase I deficiency encompasses a spectrum of disease that includes autosomal dominant and autosomal recessive forms, with severity correlating with the residual enzyme activity. Individuals who are heterozygous for pathogenic variants in GCH1 have symptoms ranging from none (due to reduced penetrance) to dopa-responsive dystonia, which is the most common presentation in symptomatic cases, to rarer neurological presentations such as adult-onset "benign" parkinsonism, various types of focal dystonia, and symptoms simulating cerebral palsy or spastic paraplegia. Hyperphenylalaninemia is absent, and patients respond well to treatment with levodopa. Individuals who are homozygous or compound heterozygous for pathogenic variants in GCH1 typically present with hyperphenylalaninemia, often identified by newborn screening, and severe neurological features and due to very low or undetectable enzyme activity. Treatment with levodopa, BH4, and 5-hydroxytryptophan can improve the symptoms but does not prevent development of severe encephalopathy. Rare cases of GTP cyclohydrolase I deficiency with a phenotype that is intermediate in severity between dopa-responsive dystonia and the severe autosomal recessive form have also been described, supporting the existence a phenotypic spectrum of disease.


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: GTP cyclohydrolase I deficiency with hyperphenylalaninemia

description: An autosomal recessive condition caused by mutation(s) in the GCH1 gene, encoding GTP cyclohydrolase 1. It is characterized by hyperphenylalaninemia and GTP cyclohydrolase 1-deficient dopa-responsive dystonia.


opioid-induced constipation

description: A constipation disorder caused by use of opioids. OIC may present immediately when a patient takes the opioid, or it may present gradually during opioid therapy.


combined ApoA-I and ApoC-III deficiency

description: A hypoalphalipoproteinemia that is has its basis in the disruption of ApoA-I and ApoC-III.


gastric intestinal metaplasia

description: Metaplastic changes in the lining of the upper digestive tract.


inherited kidney disorder

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


liver failure

description: A liver disease characterized by the liver losing or has lost all of its function.


chronic liver failure

description: Liver failure that develops slowly and gradually for some time, possibly for years, often as the result of cirrhosis, or malnutrition.


pregnancy associated osteoporosis

description: A severe early presentation of osteoporosis in which young women experience low trauma or spontaneous fractures, most commonly vertebral fractures, during late pregnancy or lactation.


name: X-linked intellectual disability with hypopituitarism

description: An X-linked intellectual disability in which the cause of the disease is a mutation in the SOX3 gene, with variable phenotypes including growth hormone deficiency due to hypopituitarism. It is undetermined if SOX3 is the only gene associated with this disease.


TPM2-related myopathy

description: A congenital myopathy of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle beta-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, amyotrophy, hypotonia, myopathic facies, scoliosis, and sometimes contractures among other phenotypes. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, core-like lesions, fiber-type disproportion, and dystrophic features all observed to some degree.


parainfluenza infectious disease

description: A disease caused by infection with parainfluenza virus. There are four serotypes which cause respiratory illnesses in children and adults.


Mendelian encephalopathy

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


name: diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate


name: microcephaly with intellectual disability

description: Microcephaly characterized by both microcephaly and atypical neurodevelopment, without other commonly reported non-brain related phenotypes.


lumbar disk disease

description: A vertebral column disorder caused by degeneration of intervertebral disks of the lumbar spine. One of the most common musculoskeletal disorders, it has strong genetic determinants.


name: lumbar disk herniation, susceptibility to


name: parainfluenza virus type 1 infectious disease

description: A disease caused by infection with parainfluenza virus type 1.


name: parainfluenza virus type 2 infectious disease

description: A disease caused by infection with parainfluenza virus type 2.


name: parainfluenza virus type 4 infectious disease

description: A disease caused by infection with parainfluenza virus type 4.


name: lumbar disk degeneration, susceptibility to


infantile-onset epilepsy

description: Epilepsy starting in the first 12 months of life, including self-limiting and refractory seizures, and epilepsies with and without developmental disorders.