name: PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis

description: A rare genetic primary lymphedema characterized by uniform, widespread lymphedema, often with systemic involvement such as intestinal and pulmonary lymphangiectasia, pleural and pericardial effusions, and chylothorax. There is a high incidence of non-immune hydrops fetalis, which may result in fetal demise or fully resolve after birth. Severe, recurrent facial cellulitis is observed in some patients. Presence of epicanthic folds or micrognathia has occasionally been reported, while intelligence is normal, and seizures are absent.


name: childhood-onset Steinert myotonic dystrophy

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


name: hereditary lethal multiple congenital anomalies/dysmorphic syndrome

description: An instance of lethal multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome.


name: Polymerase proofreading-related adenomatous polyposis


acute ackee fruit intoxication

description: Acute ackee fruit intoxication (also referred to as Jamaican vomiting syndrome or sickness) is caused by the ingestion of unripe Blighia sapida fruits. It is a serious intoxication that is frequent in certain countries in the Caribbean and Western Africa. In contrast, it is rare in France and other Western countries. Intoxication leads to toxic hypoglycaemia and inhibition of neoglucogenesis. The hypoglycaemia is caused by the effect of hypoglycin A, which is found in the arils.


name: neurodevelopmental disorder with hypotonia, microcephaly, and seizures


name: qualitative or quantitative defects of plectin


ichthyosis-cheek-eyebrow syndrome

description: Ichthyosis-cheek-eyebrow syndrome is characterized by ichthyosis, prominent full cheeks and sparse lateral eyebrows. It has been described in several individuals from four generations of one family. Transmission is autosomal dominant.


name: mitochondrial complex 4 deficiency, nuclear type 8


name: atypical dentin dysplasia due to SMOC2 deficiency


non-cutaneous melanoma

description: Melanoma is a malignant tumor of melanocytes, cells that are derived from the neural crest. Although most melanomas arise in the skin, they also may arise from mucosal surfaces or at other sites to which neural crest cells migrate. (PDQ)


name: hypothalamic adipsic hypernatraemia syndrome


bipolar depression

description: The depressive stage of bipolar disorder.


rhizomelic syndrome, Urbach type

description: Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies.


Morgagni cataract

description: A form of hypermature cataract formed by liquefaction of the cortex and sinking of the dense nucleus to the bottom of the capsular bag.


name: B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)

description: A precursor lymphoid neoplasm which is composed of B-lymphoblasts and carries a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14, (q31.1;q32.3). It results in eosinophilia.


neurotic excoriation

description: A condition in which patients produce skin lesions through repetitive, compulsive excoriation of their skin.


malignant tumor of parathyroid gland

description: A cancer that involves the parathyroid gland.


internal carotid agenesis

description: Internal carotid artery (ICA) agenesis (uni or bilateral) is a developmental defect that may be asymptomatic or lead to cerebrovascular lesions. It is a rare malformation, with only around hundred cases reported in the literature. When symptoms are present, they are caused by cerebrovascular insufficiency, compression of the brain by vessels that dilate to compensate for the absence of the ICA, or the presence of an aneurysm. Associated intracranial aneurysms occur in 25 to 35% of patients and are often responsible for intracranial hemorrhage, which may present as the initial symptom. The absence of the ICA is the result of either agenesis or aplasia. The term agenesis is used when both the ICA and its bony canal are absent, whereas there is some evidence of carotid canals in cases of aplasia. The absence of the ICA can be detected by angiography or by computerized tomography.


thrombocytopenia 5

description: Any thrombocytopenia in which the cause of the disease is a mutation in the ETV6 gene.


chronic dacryoadenitis

description: Chronic form of dacryoadenitis.


name: chromosome 1, uniparental disomy 1q12 q21


name: non-amyloid monoclonal immunoglobulin deposition disease


focal facial dermal dysplasia type II

description: Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities.


name: developmental and epileptic encephalopathy, 82


celiac trunk compression syndrome

description: A rare disease caused by compression of the celiac axis by an abnormally shaped arcuate ligament (the part of the diaphragm in which both pillars join in the midline around the aorta). Patients have recurrent abdominal pain, anorexia and weight loss. The pain is epigastric, and diarrhea or constipation may be present as well. Onset of pain will usually, although not always, be after food intake, and may be associated with nausea and emesis. Other symptoms may include lassitude, exercise intolerance and vomiting. Occasionally, a patient may show an abdominal murmur upon auscultation.


name: disorder of galactose and fructose metabolism

description: An inherited disorder of carbohydrate metabolism that is has its basis in the disruption of galactose and/or fructose metabolic process.


RDH12-related recessive retinopathy

description: A retinopathy, typically severe, and early onset, caused by biallelic variants in the RDH12 gene.


name: bleeding diathesis due to thromboxane synthesis deficiency

description: A rare, genetic, isolated constitutional thrombocytopenia disease characterized by impaired platelet aggregation resulting from a defect in thromboxane synthesis or signaling, manifesting with mild to moderate mucocutaneous, gastrointestinal or surgical bleeding (e.g. easy bruising, prolonged epistaxis, excessive bleeding after a tooth extraction).


Alzheimer disease 8

description: An Alzheimer's disease that is characterized by an associated with variation in the region 20p12.2-q11.21.


synovium cancer

description: A cancer that involves the layer of synovial tissue.


WAGR syndrome

description: WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor.


Freiberg disease

description: Freiberg's disease is rare condition that primarily affects the second or third metatarsal (the long bones of the foot). Although people of all ages can be affected by this condition, Freiberg's disease is most commonly diagnosed during adolescence through the second decade of life. Common signs and symptoms include pain and stiffness in the front of the foot, which often leads to a limp. Affected people may also experience swelling, limited range of motion, and tenderness of the affected foot. Symptoms are generally triggered by weight-bearing activities, including walking. The exact underlying cause of Freiberg's disease is currently unknown. Treatment depends on many factors, including the severity of condition; the signs and symptoms present; and the age of the patient.


anterior urethra cancer

description: A malignant neoplasm that affects the portion of the urethra that is close to the outside of the body.


name: erythrokeratodermia variabilis et progressiva 7


name: neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures


name: mitochondrial complex 4 deficiency, nuclear type 3


lichen planus, oral

description: A chronic, autoimmune inflammatory condition of the mucous membranes in the oral cavity that affects approximately two percent of the population and is most often seen in middle aged women. It is characterized by white, lacy patches; red, swollen tissue; papules and plaques; or open sores. The lesions are typically bilateral.


benign mixed tumor of the vulva

description: A benign neoplasm that arises from the vulva and is characterized by the presence of epithelial cells forming nests and tubules in a fibrotic stroma. It may recur locally and complete excision is recommended.


GPR143-related foveal hypoplasia

description: Any foveal hypoplasia with or without albinism caused by a variant in the GPR143 gene.


name: intellectual developmental disorder, autosomal dominant 73


name: mitochondrial complex 1 deficiency, nuclear type 10


benign neoplasm of pituitary gland

description: A benign neoplasm that involves the pituitary gland.


monogenic alpha thalassemia spectrum

description: An instance of alpha thalessemia spectrum that is caused by an inherited monogenomic modification in an individual.


pericardial effusion, chronic

description: Chronic form of pericardial effusion (disease).


childhood gonadal germ cell tumor

description: A germ cell tumor that arises from the testis or ovary and occurs during childhood.


auditory agnosia

description: An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal.


paraneoplastic neurologic syndrome

description: A paraneoplastic syndrome that involves the nervous system.


name: SBDS-related severe neonatal spondylometaphyseal dysplasia


name: congenital pseudoarthrosis of the radius


name: mitochondrial complex 1 deficiency, nuclear type 24


name: round cell sarcoma with EWSR1-non-ETS fusion

description: A small cell sarcoma that is characterized by the presence of EWSR1 or FUS fusions involving partners unrelated to the ETS gene family.


combined dystonia

description: A dystonia that is combined with another movement disorder (e.g., myoclonus, parkinsonism).


name: primitive neuroectodermal tumor of the cervix uteri

description: Primitive neuroectodermal tumor of the cervix uteri is a rare cancer of cervix uteri derived from neural crest cells, histologically composed of small, round neoplatic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, soft, poorly circumscribed mass with infiltrative borders and necrotic areas. It presents with dysfunctional vaginal bleeding or discharge, lower abdominal pain and uterine enlargement.


name: ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet


name: benign peritoneal solitary fibrous tumor

description: A peritoneal benign neoplasm that is characterized by the presence of prominent hemangiopericytoma-like vessels.


hereditary neoplastic syndrome

description: The inherited predisposition toward getting a tumor.


acute mountain sickness

description: Acute mountain sickness is characterized by altitude sickness that affects otherwise healthy persons, develops within hours after arriving at altitude, and results in functional impairment from symptoms that may include headache, anorexia, nausea, vomiting, dizziness, fatigue, and sleep disturbances.


name: maternal uniparental disomy of chromosome 16


gonococcal spondylitis

description: An spondylitis caused by infection with Neisseria gonorrhoeae.


diaphragm disorder

description: A disease involving the diaphragm.


name: autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain


melanoma associated retinopathy

description: Melanoma-associated retinopathy (MAR) is a rare autoimmune condition that occurs in some people with melanoma (a type of skin cancer) and can affect the vision.


name: metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands


rabies

description: Rabies is a viral zoonosis leading to a fatal encephalopathy if not treated.


name: imperforate oropharynx-costo vetebral anomalies syndrome

description: Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989.


name: global developmental delay, progressive ataxia, and elevated glutamine


T-B+ severe combined immunodeficiency

description: T-B+ severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive.


cranial neuralgia

description: A neuralgia that involves the cranial neuron projection bundle.


name: developmental and epileptic encephalopathy, 80


BCOR ITD sarcoma

description: A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR internal tandem duplication.


encephalomyelitis

description: Inflammation of the brain and the spinal cord.


name: tremor, hereditary essential, and idiopathic normal pressure hydrocephalus


name: microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome


name: malignant peritoneal solitary fibrous tumor

description: A malignant form of peritoneal solitary fibrous tumor.


Peutz-Jeghers syndrome

description: Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies.


name: congenital disorder of glycosylation, type Ibb


familial porencephaly

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


early congenital syphilis

description: A congenital syphilis that is manifested between 0 and 2 years old.


muscular dystrophy, chicken

description: Muscular dystrophy that occurs in chicken.


skull neoplasm

description: A benign or malignant neoplasm that affects the bones and structures of the skull.


name: periodic fever, immunodeficiency, and thrombocytopenia syndrome


trisomy 10p

description: Trisomy 10p is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10.


name: hypotonia, infantile, with psychomotor retardation and characteristic facies

description: A rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip).


name: combined oxidative phosphorylation deficiency 45


Gaisbock syndrome

description: Polycythemia that is caused by stress.


CPOX-related hereditary coproporphyria

description: Any inherited porphyria in which the cause of the disease is monoallelic or biallelic variants in the CPOX gene.


name: atypical Fanconi syndrome-neonatal hyperinsulinism syndrome


name: neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia


medulloblastoma non-WNT/non-SHH group 4

description: A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by the absence of MYC amplifications and TP53 mutations, while chromosome 17 abnormalities may be present.


description: An autosomal recessive, multisystem condition caused by pathogenic variants of the ERCC6 gene, encoding the DNA excision repair protein, ERCC-6. Cockayne spectrum with or without cerebrooculofacioskeletal syndrome is characterized by growth failure at birth, with little or no postnatal neurologic development in addition to congenital cataracts or other structural anomalies of the eye, early postnatal contractures of the spine (kyphosis, scoliosis) and joints, and death usually occurring by age five years. This term lumps Cockayne syndrome type 2/B (CSB), cerebrooculofacioskeletal syndrome 1 (COFS syndrome), and De Sanctis-Cacchione syndrome into a spectrum of disease.


name: hypercarotenemia and vitamin A deficiency, autosomal recessive


plantar nerve lesion

description: A peripheral nerve lesion that involves the plantar nerve.


null syndrome

description: The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy.


idiopathic hypersomnia

description: Idiopathic hypersomnia is a sleep disorder classified in two forms: idiopathic hypersomnia with long sleep time and idiopathic hypersomnia without long sleep time.


name: oculocerebral hypopigmentation syndrome of Preus


trachea leiomyoma

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


name: coloboma of macula-brachydactyly type B syndrome

description: Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner.


accessory tricuspid valve tissue

description: Accessory tricuspid valve tissue is a rare, congenital, atrioventricular valve malformation characterized by fixed or mobile accessory tissue on the tricuspid valve, usually associated with other complex congenital heart anomalies (atrial septal defect, ventricular septal defect, transposition of great arteries, tetralogy Fallot). It may present clinically with systolic murmur, dyspnea, cyanosis, depending also on accompanying congenital heart anomaly.


thinking seizures

description: Thinking seizures is a rare neurologic disease characterized by seizures induced by specific cognitive tasks, such as calculation or solving arithmetic problems (e.g Sudoku puzzle), playing thinking games (e.g. Rubik's cube, chess, cards), thinking, making decisions and abstract reasoning. Idiopathic generalized seizures are mainly involved, but partial epilepsies may, in rare cases, be observed.


name: neurodevelopmental disorder with hypotonia and seizures


glycine metabolism disease

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


oculocerebrocutaneous syndrome

description: Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual disability and is typically characterized by the triad of eye, central nervous system and skin malformations.


acral persistent papular mucinosis

description: Acral persistent papular mucinosis is a rare chronic form of localized lichen myxedematosus characterized by the development of multiple symmetrical skin-colored mucinous papules exclusively on the extensor surface of the hands and distal forearms.


name: Tay-Sachs disease, b variant, juvenile form


name: microcephaly-cardiac defect-lung malsegmentation syndrome

description: Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate.


spontaneous periodic hypothermia

description: Spontaneous periodic hypothermia (SPH) is a neurological disorder characterized by spontaneous periodic hypothermia and hyperhidrosis in the absence of hypothalamic lesions.


central nervous system AIDS arteritis

description: Inflammation of arteries in the central nervous system that occurs in patients with acquired immunodeficiency syndrome or aids-related opportunistic infections.


description: Muscular pseudohypertrophy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism.


name: craniometadiaphyseal osteosclerosis with hip dysplasia


name: Charcot-Marie-Tooth disease, demyelinating, IIA 1I


acid sphingomyelinase deficiency

description: An autosomal recessive lysosomal disease caused by biallelic loss of function variants in the SMPD1 gene. Clinical symptoms in affected individuals occur along a continuum. At the severe end of the spectrum are individuals historically diagnosed with Niemann-Pick disease type A (the neurovisceral form), which is characterized by hepatosplenomegaly with rapid neurological deterioration leading to death in the first few years of life. At the milder end of the spectrum are individuals historically diagnosed with Niemann-Pick disease type B, a later-onset, chronic visceral form, characterized by progressive visceral organ symptoms including hepatosplenomegaly and pulmonary insufficiency, and survival into adulthood. In addition, some affected individuals present with an intermediate phenotype, Niemann-Pick disease type A/B.


name: cortical dysplasia, complex, with other brain malformations 11


name: hypogonadism with low-grade mental deficiency and microcephaly


allergic contact dermatitis of eyelid

description: A allergic contact dermatitis that involves the eyelid.


name: isolated congenital hypogonadotropic hypogonadism

description: A congenital hypogonadotropic hypogonadism that is not part of a larger syndrome.


name: hereditary disorder of connective tissue

description: An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome.


canine melanoma

description: Melanoma occurring in a dog. It is the most common malignant tumor found in the mouths of dogs and also occurs frequently on the digits. All canine melanomas are locally invasive and malignant canine melanomas show a high rate of metastasis. Melanoma in dogs has been established as a relevant model for human melanoma.


calcium-alkali syndrome

description: The ingestion of excessive calcium supplementation or calcium containing antacids, and alkali resulting in a triad of hypercalcemia, metabolic alkalosis, and renal insufficiency.


name: Yersinia enterocolitica infectious disease


name: symptomatic form of hemophilia A in female carriers

description: A form of hemophilia A that manifests in some women with mutations in the F8 gene (Xq28), encoding coagulation factor VIII.


Colorado tick fever

description: A febrile illness characterized by chills, aches, vomiting, leukopenia, and sometimes encephalitis. It is caused by the colorado tick fever virus, a reovirus transmitted by the tick Dermacentor andersoni.


name: neuropathy, congenital hypomyelinating, 3


myopathy caused by variation in POMGNT1

description: Any myopathy in which the cause of the disease is a variation in the POMGNT1 gene.


name: peroxisomal single enzyme/protein defect

description: Any peroxisomal disease in which the cause of the disease is a defect in a single enyme or protein.


mite infestation

description: Infestations with arthropods of the subclass acari, superorder Acariformes.


name: non-syndromic non-specific multisutural craniosynostosis


name: inborn disorder of methionine cycle and sulfur amino acid metabolism

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


vertebral joint disorder

description: A disease that involves the intervertebral joint.


infectious epithelial keratitis

description: Infectious epithelial keratitis is a rare, potentially sight-threatening, acquired ocular disease chracterized by corneal epithelium inflammation resulting from viral (mainly Herpes Simplex virus), bacterial, fungic or protist infection, manifesting with variable symptoms, such as conjunctival hyperemia, lacrimation, rapid onset of pain, blurred vision and/or photophobia, depending on the causative agent.


erythrokeratoderma en cocardes

description: Erythrokeratoderma 'en cocardes' is a rare genodermatosis characterized by circumscribed target-like (or 'en cocardes') erythematous hyperkeratotic lesions. These lesions, which remit and recur, affect the trunk and extremities and are accompanied by scaly plaques evocative of erythrokeratoderma variabilis. Onset usually occurs at birth or during early childhood. Only few cases have been described. Transmission is autosomal dominant.


accessory nerve disorder

description: A disease involving the accessory XI nerve.


pediatric multiple sclerosis

description: Pediatric multiple sclerosis (MS) is a rare multiple sclerosis variant characterized by the onset of multiple sclerosis (i.e. one or multiple episodes of clinical CNS symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders) before the age of 18 years old. Pediatric MS patients present a predominantly relapsing-remitting course with first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on initial MRI, primarily of the supratentorial region and/or of the cervical spinal cord, has been reported.


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: combined oxidative phosphorylation deficiency 47


name: basal ganglia calcification, idiopathic, childhood-onset


optic perineuritis

description: A rare ophthalmic disorder characterized by idiopathic orbital inflammation in which the specific target tissue is the optic nerve sheath. Patients typically present with ocular pain, pain on eye movement, visual symptoms with loss of vision progressing over several weeks, dyschromatopsia, and variable visual field defects. Orbital signs and symptoms may be present and include ptosis, ophthalmoplegia, and exophthalmos. Optic disk edema is observed in most cases. The condition is usually unilateral.


name: spastic paraplegia 88, autosomal dominant


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.


adenomyoma

description: A benign neoplasm characterized by the presence of a glandular and a mesenchymal (fibromyomatous) component. It occurs in the uterine corpus and the cervix. A variant of adenomyoma associated with glandular architectural complexity is called atypical polypoid adenomyoma. Simple polypectomy is usually curative. Atypical polypoid adenomyoma may recur following polypectomy.


Drachtman Weinblatt Sitarz syndrome

description: A rare genetic disorder, characterized by under-development of bone marrow and neurological disorders such as weakness on one side of the body, agenesis of corpus callosum and hydrocephalus.


uterine corpus sarcoma

description: A malignant mesenchymal neoplasm arising from the wall of the uterine corpus (uterine body). The most representative examples are leiomyosarcoma and endometrial stromal sarcoma.


cystitis cystica

description: A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by urothelial cells.


hereditary hypoparathyroidism

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


rheumatic pulmonary valve disease

description: A rheumatologic disorder that involves the pulmonary valve.


name: immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein


name: neurodevelopmental disorder with cerebellar atrophy and with or without seizures


ring chromosome disorder

description: Chromosomal disorder in which the chromosomal anomaly consists of the presence of a ring chromosome. A ring chromosome is a chromosome whose arms have fused together to form a ring, often with the loss of the ends of the chromosome.


RDH12-related dominant retinopathy

description: A retinopathy caused by gain of function, heterozygous variants in the RDH12 gene, and associated with late onset retinopathy with a mild phenotype, characterized by nyctalopia and visual field loss, but relatively preserved central vision.


name: intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies


name: Usmani-Riazuddin syndrome, autosomal dominant


orbit lymphoma

description: A lymphoma that arises from the structures of the orbit. Representative examples include mucosa-associated lymphoid tissue lymphoma, follicular lymphoma, and diffuse large B-cell lymphoma.


nosophobia

description: A specific phobia that involves an irrational fear of contracting a disease.


ring chromosome 12

description: Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (incl. epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, café-au-lait spots and epilepsy have also been reported.


name: microcephaly 24, primary, autosomal recessive


name: arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum


mycosis fungoides and variants

description: Mycosis fungoides (MF) and its variants represent the most common forms of cutaneous T-cell lymphomas. The term MF is restricted to the classical form characterized by the slow progression of patches, plaques and tumors, and to variants with a similar indolent course.


name: serine biosynthesis pathway deficiency, infantile/juvenile form


acquired xanthinuria

description: Acquired xanthinuria is generally iatrogenic. Allopurinol treatment, administered to block XOR and prevent uric acid overproduction, leads to the accumulation of xanthine. Rarely, in the setting of aggressive chemotherapy with rapid tumor lysis or in patients with HPRT deficiency on allopurinol therapy, complications of renal failure can develop from xanthine crystal nephropathy.


name: blepharophimosis-impaired intellectual development syndrome


name: autosomal recessive secondary polycythemia not associated with VHL gene


placental insufficiency

description: Failure of the placenta to deliver an adequate supply of nutrients and oxygen to the fetus.


name: short-rib thoracic dysplasia 21 without polydactyly


name: partial duplication of the long arm of chromosome 15

description: Chromosome 15q duplication is a chromosome abnormality that occurs when an extra (duplicate) copy of the genetic material located on the long arm (q) of chromosome 15 is present in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the duplication and which genes are involved. Common features shared by many people with this duplication include developmental delay; intellectual disability; hypotonia (low muscle tone); seizures ; high and/or cleft palate (roof of the mouth); scoliosis ; slow growth; communication difficulties; behavioral problems; and distinctive facial features. Most cases are not inherited, although affected people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.


name: spondyloepiphyseal dysplasia, nishimura type


RP1-related dominant retinopathy

description: An inherited retinopathy caused by bi-allelic variants in the RP1 gene.


name: spondyloepimetaphyseal dysplasia, Krakow type


description: Aphalangy-syndactyly-microcephaly is an extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability.


simultanagnosia

description: An agnosia that is a loss of the ability to recognize a whole image or scene while retaining the ability to recognize objects or details in their visual field one at a time.


familial adenomatous polyposis 2

description: An autosomal recessive hereditary neoplastic syndrome caused by mutations in the MUTYH gene on chromosome 1p34.1. It is characterized by the presence of multiple colorectal polyps that may progress to carcinoma. Development of gastric and small intestinal polyps may also occur.


adult fibrosarcoma

description: A malignant mesenchymal neoplasm composed of fibroblasts. It is characterized by collagen production and a herringbone architectural pattern. It is more commonly seen in middle-aged and older adults. It usually affects the deep soft tissues of extremities, trunk, head and neck. Adult fibrosarcomas may recur and metastasize to the lungs and bones.


name: neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline


splenic hodgkin lymphoma

description: A rare Hodgkin lymphoma that arises from the spleen.


name: pharyngeal-cervical-brachial variant of Guillain-Barre syndrome


pseudodiastrophic dysplasia

description: Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy.


flying phobia

description: An overwhelming, irrational, and persistent fear of traveling in an aircraft.


name: arthrogryposis-hyperkeratosis syndrome, lethal form

description: Arthrogryposis-hyperkeratosis syndrome, lethal form is an arthrogryposis syndrome, described in two siblings to date, characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993.


name: CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome


name: progressive bifocal chorioretinal atrophy

description: Progressive bifocal chorioretinal atrophy (PBCRA) is an early-onset chorioretinal dystrophy characterized by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow disease progression.


benign neoplasm of lymph node

description: A benign neoplasm that involves the lymph node.


non-24-hour sleep-wake syndrome

description: Non-24-hour sleep-wake disorder (non-24 disorder), also known as hypernychthemeral syndrome, is a circadian rhythm sleep disorder characterized by non-synchronization to a 24-hour day leading to insomnia and daytime sleepiness with sometimes severe associated manifestations.


hereditary photodermatosis

description: Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies.


BAFopathy

description: Disorder caused by mutations in the various subunits composing the BAF complex.


benign neoplasm of major salivary gland

description: A benign neoplasm that involves the major salivary gland.


name: postaxial polydactyly type B, unilateral


name: adrenocortical hypofunction, chronic primary congenital


cattle disease

description: Diseases of domestic cattle of the genus Bos. It includes diseases of cows, yaks, and zebus.


catamenial pneumothorax

description: Catamenial pneumothorax is an extremely rare condition that affects women. Pneumothorax is the medical term for a collapsed lung, a condition in which air or gas is trapped in the space surrounding the lungs causing the lungs to collapse. Women with catamenial pneumothorax have recurrent episodes of pneumothorax that occur within 72 hours before or after the start of menstruation. The exact cause of catamenial pneumothorax is unknown and several theories have been proposed. Many cases are associated with the abnormal development of endometrial tissue outside of the uterus (endometriosis). Some believe that catamenial pneumothorax is the most common form of thoracic endometriosis (a condition in which the endometrial tissue grows in or around the lungs). A diagnosis of catamenial pneumothorax is usually suspected when a woman of reproductive age and with endometriosis has episodes of pneumothorax.Treatment is with hormones and surgery.


acute mast cell leukemia

description: A rare systemic mastocytosis characterized by the presence of at least 20% usually immature and atypical mast cells in bone marrow aspirate smears. In classic mast cell leukemia, mast cells account for at least 10% of peripheral white blood cells, although the aleukemic variant with less than 10% mast cells is more common. C-findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption), indicative of organ damage due to mast cell infiltration, are usually present at diagnosis, while skin lesions are absent in most cases. Prognosis is generally poor.


aspirin-induced respiratory disease

description: An intrinsic asthma that is characertized by severe and prolonged airway obstruction after the ingestion of aspirin or other non-steroidal anti-inflammatory drugs.


name: mitochondrial complex 1 deficiency, nuclear type 18


osteomesopyknosis

description: Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content.


chromosome 7 disorder

description: Chromosomal disorder in which chromosome 7 is affected.


name: acinar dysplasia caused by mutation in FGFR2

description: Any acinar dysplasia in which the cause of the disease is a mutation in the FGFR2 gene.


humerus trochlea aplasia

description: Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus.


spinal arachnoiditis

description: A chronic adhesive arachnoiditis in the spinal arachnoid, with root and spinal cord symptoms similar to those caused by pressure from a tumor.


name: retinal dystrophies primarily involving Bruch's membrane

description: A retinal dystrophy with etiology arising from Bruch's membrane, the site of drusen generation.


KCNH1 associated disorder

description: Any neurodevelopmental disorder in which the cause of the disease is a mutation in the KCNH1 gene. Variants in KCNH1 cause significant neurodevelopmental disabilities that lie along a phenotypic spectrum ranging from non-syndromic to syndromic. The most common phenotypes associated with variants in KCNH1 include intellectual disability, seizures, hypotonia, absence or hypoplasia of nails, and gingival enlargement. Hypoplastic terminal phalanges of fingers and toes, proximal placement and long thumb, and long toes present less frequently.


name: osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures

description: An osteogenesis imperfecta found in a single South African family.


name: mitochondrial complex V (ATP synthase) deficiency, nuclear type 7


syndromic dyslipidemia

description: A inherited lipid metabolism disorder that is part of a larger syndrome.


bladder dome cancer

description: Cancer of the upper, convex surface of the bladder.


name: familial primary hypomagnesemia with hypocalcuria


name: acute myeloid leukemia, WT1 gene mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly WT1 gene mutation. (A change in the nucleotide sequence of the WT1 gene.)


name: X-linked complicated spastic paraplegia type 1

description: An X-linked form of L1 syndrome characterized by spastic paraplegia, mild to moderate intellectual disability, normal MRI of the brain.


musculoskeletal system benign neoplasm

description: A benign neoplasm that involves the musculoskeletal system.


name: congenital anomaly of cardiovascular system

description: A disease that has its basis in the disruption of cardiovascular system development.


name: qualitative or quantitative defects of dystrophin


name: renal tubular dysgenesis due to twin-twin transfusion

description: An acquired form of renal tubular dysgenesis that develops in donor fetuses due to the uneven shunting of growth factor and nutrients to the kidney of the recipient and is characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects).


paranasal sinus disorder

description: A disease involving the paranasal sinus.


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.


Treponema infectious disease

description: An disease caused by infection with Treponema.


name: X-linked intellectual disability-cubitus valgus-dysmorphism syndrome

description: An X-linked syndromic intellectual disability characterized by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive.


name: developmental delay with variable intellectual disability and dysmorphic facies


malignant syringoma

description: A malignant form of syringoma.


adult malignant mesenchymoma

description: A malignant mesenchymoma occurring in adults.


autoimmune hemolytic anemia, warm type

description: Warm autoimmune hemolytic anemia is the most common form of autoimmune hemolytic anemia defined by the presence of warm autoantibodies against red blood cells (autoantibodies that are active at temperatures between 37-40B0C).


monkeypox

description: An infection that is caused by an Orthopoxvirus, which is transmitted by primates or rodents, and which is characterized by a prodromal syndrome of fever, chills, headache, myalgia, and lymphedema; initial symptoms are followed by a generalized papular rash that typically progresses from vesiculation through crusting over the course of two weeks.


name: acute myeloid leukemia, t(10;11)(p11.2;q23)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p11.2;q23). (A cytogenetic abnormality that refers to the translocation of the short arm (p11.2) of chromosome 10 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/ABI1 fusions and acute myeloid leukemia.)


hereditary spastic paraplegia 41

description: Autosomal dominant spastic paraplegia type 41 is a pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise.


western equine encephalitis

description: An acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that more frequently affects children and that is characterized by the presence of mild flulike symptoms (fever, chills, headache, nausea, vomiting, and anorexia) but that can progress to weakness, altered mental status, photophobia, mental confusion, seizures, somnolence, coma and/or even death. The disease can leave neurological sequelae, mainly in infants and children, such as seizures, spasticity or behavioral disorders.


name: polymorphous low grade neuroepithelial tumor of the young

description: A central nervous system benign neoplasm that is characterized by the presence of oligodendroglioma-like components, may also contain astrocytic components and is associated with seizures and in many cases refractory epilepsy.


scrotum cancer

description: A primary or metastatic malignant neoplasm affecting the scrotum.


segmental odontomaxillary dysplasia

description: Segmental odontomaxillary dysplasia (SOD) is a rare disorder characterized by unilateral enlargement of the right or left maxillary alveolar bone and gingiva in the region from the back of the canines to the maxillary tuberosity. In the enlarged region, dental abnormalities such as missing teeth, abnormal spacing and delayed eruption occur.


name: congenital pulmonary airway malformation type 4


conversion disorder

description: Conversion disorder is a disorder in which a person experiences blindness, paralysis, or other symptoms affecting the nervous system that cannot be explained solely by a physical illness or injury. Symptoms usually begin suddenly after a period of emotional or physical distress or psychological conflict. Conversion disorder is thought to be caused by the bodys reaction to a stressful physical or emotional event. Some research has identified potential neurological changes that may be related to symptoms of the disorder. Diagnosis of conversion disorder is based on identifying particular signs that are common among people with the disorder, as well as performing tests to rule out other causes of the symptoms. Treatment may include psychotherapy, hypnosis, and stress management training to help reduce symptoms. Treatment of any underlying psychological disorder is also recommended. The affected body part may require physical or occupational therapy until symptoms resolve.


name: autosomal recessive nonsyndromic hearing loss 83

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 9p23-p21.2.


bizarre leiomyoma

description: A morphologic variant of leiomyoma characterized by the presence of pleomorphic muscle cells with bizarre hyperchromatic nuclei and eosinophilic cytoplasm.


name: acute myeloid leukemia, monoallelic CEBPA gene mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly monoallelic CEBPA gene mutation. (The presence of mutations in only one allele of the CEBPA gene.)


blackwater fever

description: A complication of malaria resulting from hemolysis.


name: spastic ataxia-corneal dystrophy syndrome

description: Mousa-AlDin-AlNassar syndrome is characterized by the presence of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia.


brachydactyly type A7

description: Brachydactyly type A7 (Smorgasbord type) is a form of brachydactyly that presents with the characteristic features of brachydactyly type A2 (shortening of the middle phalanges of the index finger and, sometimes, of the little finger) and type D (shortening of the distal phalanx of the thumb) plus various additional features.


inborn disorder of ornithine metabolism

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


postprandial hypotension

description: Drastic decline in blood pressure which happens after eating a meal and most likely due to insufficient compensation in cardiac output by the autonomic nervous system for the diversion of blood to the intestines.


hypothalamic disorder

description: Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; autonomic nervous system diseases; sleep disorders; behavioral symptoms related to dysfunction of the limbic system; and neuroendocrine disorders.


name: X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome


name: leukoencephalopathy with calcifications and cysts


optic nerve neoplasm

description: Benign and malignant neoplasms which arise from or metastasize to the optic or second cranial nerve which extends from the optic disk of the eye and joins the optic chiasm. Clinical features may include visual loss, proptosis, and local pain. The majority of optic nerve tumors or optic gliomas.


adult Refsum disease due to PEX7 defect

description: An adult Refsum disease in which the cause of the disease is a mutation in the PEX7 gene.


IDH3B-related retinopathy

description: An inherited retinopathy caused by bi-allelic variants in the IDH3B gene.


inherited primary ovarian failure

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


intermittent asthma

description: A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control two or fewer days per week and no interference with normal activity.


name: neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements


name: mitochondrial complex III deficiency, nuclear type


skeletal fluorosis

description: A condition that results from excessive fluoride ingestion leading to fluoride accumulation in the bone progressively over many years. The early symptoms of skeletal fluorosis, include stiffness and pain in the joints. In severe cases, the bone structure may change and ligaments may calcify, with resulting impairment of muscles and pain.


name: spondyloepiphyseal dysplasia, Cantu type

description: Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia).


allergic respiratory disease

description: A respiratory system disease with a basis in a pathological type I hypersensitivity reaction.


name: factors VIII, IX and XI, combined deficiency of


name: spastic paraplegia with associated extrapyramidal signs


name: rheumatoid factor-positive polyarticular juvenile idiopathic arthritis

description: A category of juvenile idiopathic arthritis defined by the presence of arthritis affecting five or more separate joints during the first six months of disease, with positive serologic testing for rheumatoid factor.


name: ciliary dyskinesia with excessively long cilia


inflammatory disease, non-human animal

description: Inflammatory disease that occurs in non-human animals.


fungal discitis

description: Discitis caused by infection with fungi.


pericoronitis

description: Inflammation of the gingiva surrounding the crown of a tooth.


name: B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome


vestibular ataxia

description: Any ataxia in which the causes of the disease is a perturbation of the vestibular system, leading to its dysfunction.


non-distal monosomy 10q

description: Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported.


name: toxocara canis infection (canine roundworms)


secondary antiphospholipid syndrome

description: An antiphospholipid syndrome that occurs alongside another autoimmune disorder.


name: IgG4-related dacryoadenitis and sialadenitis

description: IgG4-related dacryoadenitis and sialoadenitis (Mikulicz disease) is an IgG4-related sclerosing disease characterized by persistent, usually painless, bilateral enlargement of the lacrimal, parotid, and submandibular glands associated with elevated levels of serum immunoglobulin (Ig) G4 and with lymphocyte and IgG4-positive plasmacyte infiltration. It predominantly causes mouth and eye dryness but can also affect other organs such as the lungs, liver, and kidneys, and be accompanied by complications such as autoimmune pancreatitis (AIP), retroperitoneal fibrosis, and tubulointerstitial nephritis.


intradermal nevus

description: A nevus characterized by the proliferation of nevus cells in the dermis without involvement of the dermal-epidermal junction.


dysplasia epiphysealis hemimelica

description: Dysplasia epiphysealis hemimelica (DEH), or Trevor's disease, is a rare condition that most commonly affects the epiphysis (the end) of long bones in children. Early diagnosis and treatment are necessary to prevent joint dysfunction and deformity and may be surgical or non-surgical depending on the location and the symptoms. Due to the progressive nature of this disorder and the chance of worsening deformity, patients should be followed until skeletal maturity. The cause of dysplasia epiphysealis hemimelica is not known.


posterior hypospadias

description: Posterior hypospadias is a rare, non-syndromic, urogenital tract malformation characterized by an ectopic urethral meatus opening located in the posterior penis, the penoscrotal junction, the scrotum or the perineum, which often appears stenotic. The scrotum might appear bifid in severe cases and micropenis is not commonly associated. Urinary tract malformations, such as ureteropelvic junction obstruction, vesicoureteric reflux, pelvic or horseshoe kidney, crossed renal ectopia, renal agenesis, may be observed.


name: recombinase activating gene 1 deficiency

description: A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.


name: microphthalmia, isolated, with corectopia


benign neoplasm of prostate

description: A benign neoplasm that involves the prostate gland.


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).


name: epidermolysis bullosa simplex 2C, localized


mixed neoplasm

description: A neoplasm composed of at least two distinct cellular populations.


name: sleep disorder, initiating and maintaining sleep


name: microtia with meatal atresia and conductive deafness


trichostrongyloidiasis

description: Infection by roundworms of the superfamily trichostrongyloidea, including the genera trichostrongylus; ostertagia; Cooperia, haemonchus; Nematodirus, Hyostrongylus, and dictyocaulus.


name: neonatal-onset severe multisystemic autoinflammatory disease with increased IL18


cerebral creatine deficiency syndrome

description: Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency.


name: sternum, premature obliteration of sutures of


name: undifferentiated pleomorphic sarcoma, inflammatory variant

description: An undifferentiated pleomorphic sarcoma characterized by the presence of numerous inflammatory cells.


Revesz syndrome

description: Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.


FNIP1-associated syndrome

description: Any immunodeficiency in which the cause of the disease is a mutation in the FNIP1 gene. Disruption of Folliculin Interacting Protein 1 alters the essential metabolic regulators AMPK and mTOR, resulting in profound B-cell deficiency, hypertrophic cardiomyopathy, and pre-excitation syndrome.


CANOMAD syndrome

description: CANOMAD syndrome (Chronic Ataxic Neuropathy, Ophthalmoplegia, Monoclonal IgM protein, cold Agglutinins and Disialosyl antibodies) is a rare chronic immune-mediated demyelinating polyneuropathy.


chromosome 19 disorder

description: Chromosomal disorder in which chromosome 19 is affected.


name: developmental delay, impaired speech, and behavioral abnormalities


name: fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies


Mills syndrome

description: A rare, acquired motor neuron disease characterized by a slowly progressive, unilateral, ascending or descending hemplegia, associated to unilateral or asymmetrical pyramidal signs and no sensory loss. It is a diagnosis of exclusion and contorversy exists regarding whether the presence of bulbar symptoms, sphincter disturbances, fasciculations or cognitive manifestations characterize the disease.


hydrarthrosis

description: Accumulation of watery fluid in the cavity of a joint. (Dorland, 27th ed)


familial abdominal aortic aneurysm

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


name: calpain-3-related limb-girdle muscular dystrophy D4


name: Charcot-Marie-Tooth disease, demyelinating, type 1G

description: A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs.


name: titinopathy with congenital contractures

description: A prenatal/infant-onset muscle disorder characterized by limb contractures, muscle weakness (often with significant axial involvement), long bone fractures, and/or cardiac abnormalities.


name: Langerhans cell histiocytosis specific to childhood

description: Langerhans cell histiocytosis that occurs during childhood.


iliac vein thrombophlebitis

description: A thrombophlebitis that involves the iliac vein.


familial temporal lobe epilepsy 2

description: A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has material basis in variation in the chromosome region 12q22-q23.3.


bilateral renal agenesis

description: Bilateral renal agenesis is the most profound form of renal agenesis, characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.


hereditary skin disorder

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


retinal vascular occlusion

description: An occlusion of the retinal vasculature.


non-neoplastic nevus

description: A abnormal, congenital formation or mark on the skin or neighboring mucosa that does not show neoplastic growth.


urinary schistosomiasis

description: A bladder infection that occurs as a manifetation of a systemic infection with one or more species of the parasitic worms of the Schistosoma type; this can progress to bladder cancer in time.


tendinopathy

description: Disorders that are causes by overuse of tendons.


EWSR1-negative small round cell tumor

description: A small cell sarcoma that is characterized by the absence of EWSR1 rearrangement and the presence of small round malignant cells with a small amount of cytoplasm.


Echovirus infectious disease

description: Infectious disease processes, including meningitis, diarrhea, and respiratory disorders, caused by echoviruses.


atrophic muscular disease

description: A group of primary or secondary disorders affecting the muscles. It is characterized by an abnormal reduction in the muscle volume and atrophy. The atrophy may be caused by diseases of the muscle tissues or diseases of the peripheral nerves.


name: leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy


name: neonatal jaundice due to ABO incompatibility

description: Jaundice that appears during the neonatal period due to high levels of unconjugated bilirubin that are a result of maternal-fetal ABO incompatibility.


neurological pain disorder

description: A nervous system disorder that has pain as a major feature.


name: relapsed/refractory diffuse large B-cell lymphoma

description: A diffuse large B-cell lymphoma characterized by less than 50 percent decrease in lesion size with induction therapy or the appearance of new lesions or the appearance of new lesions after attainment of complete remission.


benign neoplasm of minor salivary gland

description: A benign neoplasm that involves the minor salivary gland.


pulmonary vein leiomyosarcoma

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


name: muscular hypoplasia, congenital universal, of Krabbe


name: nystagmus, congenital, autosomal recessive


chromosome 5 disorder

description: Chromosomal disorder in which chromosome 5 is affected.


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.


anismus

description: A focal dystonia of the pelvic floor muscles during attempted defecation.


ACD-related telomere biology disorder

description: A complex set of inherited conditions caused by a pathogenic variant(s) in the ACD gene that results in aberrant telomere biology.


name: furuncular myiasis due to Cordylobia rodhaini


rheumatic congestive heart failure

description: Heart failure secondary to rheumatic fever.


name: acute myeloid leukemia with t(8;21)(q22;q22) translocation


name: autosomal recessive nonsyndromic hearing loss 62

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 12p13.2-p11.23.


complete septate uterus

description: Complete septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which elongates from the uterine fundus to the internal or external cervical os. Most often women are asymptomatic, however dysmenorrhoea, unilateral obstruction, and endometriosis could be observed. Unlike urinary tract abnormalities, which are very rarely associated, poor reproductive outcome is frequent.


suppurative uveitis

description: Intraocular infection caused mainly by pus-producing bacteria and rarely by fungi. The infection may be caused by an injury or surgical wound (exogenous) or by endogenous septic emboli in such diseases as bacterial endocarditis or meningococcemia.


hereditary neurological disease

description: A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles.


name: neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies


lamellar ichthyosis

description: A keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma.


name: SLC6A3-related dopamine transporter deficiency syndrome

description: A complex movement disorder characterized by tremor, rigidity, bradykinesia, chorea, reduced facial expression, and Parkinsonism-dystonia. This disease is caused by loss of function variants in the SLC6A3 gene, which impair the dopamine transporter protein. The onset of this disease ranges from infancy to adulthood.


acrodermatitis chronica atrophicans

description: An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis.


name: autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation

description: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation is a rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms.


cardiac anomalies-heterotaxy syndrome

description: Cardiac anomalies-heterotaxy syndrome is characterized by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported.


name: deficiency of coenzyme q cytochrome c reductase


acute graft versus host disease

description: A syndrome of immunologically mediated tissue damage that may occur following an allogeneic transplant, usually affecting the skin, liver, and GI tract. The onset is usually within one hundred days of transplantation or immunologic manipulation.


gestational diabetes insipidus

description: A form of diabetes insipidus that manifests during pregnancy (or in some cases, after pregnancy). It is characterized by theappearance of a polyuric-polydipsic syndrome that resultsin fluid intake ranging from 3 to 20 L/day. It is also charac-terized by excretion of abnormally high volumes of dilutedurine. This polyuria is insipid, i.e., the urine concentrationof dissolved substances is very low.


serotonin syndrome

description: Serotoninergic syndrome is characterized by an excess of serotonin in the central nervous system, associated with the use of various agents, including selective serotonin reuptake inhibitors (SSRIs).


generalized peeling skin syndrome

description: Generalized peeling skin syndrome (PSS) is a form of PSS presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form. PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy.


Pasteurella hemorrhagic septicemia

description: Any of several bacterial diseases, usually caused by pasteurella multocida, marked by the presence of hemorrhagic areas in the subcutaneous tissues, serous membranes, muscles, lymph glands, and throughout the internal organs. The diseases primarily affect animals and rarely humans.


progeroid syndrome

description: A group of rare genetic disorders which mimic physiological aging, making affected individuals appear to be older than they are.


giant axonal neuropathy

description: A rare inherited disorder affecting the neurofilaments. It is caused by mutations in the GAN gene. It is characterized by the presence of abnormally large nerve cell axons. Signs and symptoms include difficulty walking, sensory disturbances, lack of motor coordination and abnormal reflexes in the limbs.


name: alopecia - contractures - dwarfism - intellectual disability syndrome

description: Alopecia-contractures-dwarfism-intellectual disability syndrome (ACD syndrome) is a form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome.


name: rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies


name: cataract, congenital, with mental impairment and dentate gyrus atrophy


name: neurometabolic disorder due to serine deficiency

description: Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency.


atypical lichen myxedematosus

description: Atypical lichen myxedematosus is an intermediate form of lichen myxedematosus (LM) (a form of mucin dermal deposit) which does not meet the criteria for either scleromyxedema or the localized form. Three clinical subtypes have been described and include scleromyxedema without monoclonal gammopathy; localized forms with monoclonal gammopathy and/or systemic symptoms; localized forms with mixed features of the 5 subtypes of localized LM (discrete form, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and a pure nodular form). The course of atypical LM is unpredictable because only a few cases have been reported.


odontomicronychial dysplasia

description: Odontomicronychial dysplasia is a rare, hereditary ectodermal dysplasia syndrome characterized by involvement of teeth and nails - precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails.


name: X-linked intellectual disability, Cilliers type

description: X-linked intellectual deficit, Cilliers type is characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears).


enamel caries

description: A dental caries that involves the enamel.


name: hypopituitarism, congenital, with central diabetes insipidus


vulvar liposarcoma

description: A rare malignant adipose tissue neoplasm of the vulva.


papillary urothelial hyperplasia

description: A type of hyperplasia that is characterized by variable thickening of the urinary tract epithelium and a slight papillary growth. The latter is not associated with the presence of fibrovascular cores. There is no evidence of atypia. The relationship between this lesion and papillary urothelial neoplasia is not clear. -- 2003


neoplastic disease or syndrome

description: Either an isolated neoplasm or a syndrome with neoplasm as a major feature.


name: acute myeloid leukemia, inv(16)(p13.3;q24.3)

description: Any acute myeloid leukemia that has the chromosomal anomaly inv(16)(p13.3;q24.3). (A pericentric chromosomal inversion that involves chromosome 16. It is associated with CBFA2T3/GLIS2 fusions and pediatric acute megakaryoblastic leukemia.)


description: A rare glomerular disease characterized by a pattern of glomerular injury on kidney biopsy with characteristic light microscopic changes: mesangial hypercellularity, endocapillary proliferation, and thickening of the glomerular basement membrane (GBM). On the basis of immunofluorescence (IF) the disorder is divided into C3 glomerulopathy (C3G) or immunoglobulin-mediated membranoproliferative glomerulonephritis. Through electron microscopy C3G is further divided into Dense deposit disease, with highly electrondense deposits in the glomerular basement membrane, and C3 glomerulonephritis, with mesangial, intramembranous, subendothelial and subepithelial deposits. Secondary causes (autoimmune, infectious, malignancies) are excluded.


malignant olfactory nerve neoplasm

description: A primary or metastatic malignant neoplasm affecting the olfactory nerve.


name: acute myeloid leukemia and myelodysplastic syndromes related to radiation

description: Acute myeloid leukemia and myelodysplastic syndromes related to radiation represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with radiation. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. Patients frequently present with multilineage dysplasia and cytopenias 5-10 years after exposure.


name: qualitative or quantitative defects of selenoprotein N1


name: DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome


name: intellectual developmental disorder, autosomal recessive 76


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.


progressive nodular histiocytosis

description: Progressive nodular histiocytosis is a rare, normolipemic, non-Langerhans cell histiocytosis characterized by progressive growth of multiple to disseminated, asymptomatic skin lesions that range in appearance from yellow plaques to coalescence-prone red-brown papules, nodules and pedunculated tumors up to 5 cm in size, located typically on the face, trunk and extremities (and rarely on conjuctiva and mucous membranes). Characteristic microscopic findings include a storiform spindle cell infiltrate in the deep dermis with xanthomatized macrophages and some Touton cells in the upper dermis. It is usually not associated with systemic disease.


neonatal/infantile epilepsy syndrome

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


uvea neoplasm

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


juvenile dermatitis herpetiformis

description: Dermatitis herpetiformis in children


arthrogryposis

description: A rare, non-progressive congenital disorder characterized by multiple joint contractures which are present at birth.


name: neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities


name: low grade fibromyxoid sarcoma with giant collagen rosettes

description: A low grade fibromyxoid sarcoma characterized by the presence of prominent collagen rosettes.


Liddle syndrome 2

description: Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1G gene.


name: muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15


TREX1-related type 1 interferonopathy

description: Any type 1 interferonopathies in which the cause of the disease is a variation in the TREX1 gene. Individuals with variants in TREX1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome, chilblain lupus, or retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations.


childhood cerebellar neoplasm

description: A neoplasm that affects the cerebellum and occurs during childhood.


name: congenital disorder of glycosylation, type i/IIx


name: neurodevelopmental disorder with spasticity and poor growth


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


bone marrow cancer

description: Malignant neoplasms that either originate from the bone marrow (e.g. myeloid leukemias) or involve the bone marrow as secondary-metastatic tumors (e.g. metastatic carcinomas to the bone marrow). --2003


non-psychogenic polydipsia

description: A form of primary polydipsia not caused by underlying psychiatric symptoms.


name: silver-Russell syndrome due to 11p15 microduplication


name: intellectual developmental disorder, x-linked 113


croup

description: Acute upper respiratory airways infection that results in the swelling of the larynx. It is usually caused by parainfluenza viruses. Signs include a characteristic barking cough and stridor.


sensory system cancer

description: A malignant neoplasm involving the sensory system


X-linked immunoneurologic disorder

description: X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males.


acute sensory ataxic neuropathy

description: Acute sensory ataxic neuropathy is a rare variant of Guillain-Barré syndrome characterized by acute onset monophasic sensory neuropathy with diminished or absent tendon reflexes, loss of proprioception, positive Romberg sign and nerve conduction features of demyelination. It presents several weeks after acute infection with paresthesias, ataxia and neuropathic pain.


chromosome 15 disorder

description: Chromosomal disorder in which chromosome 15 is affected.


name: combined oxidative phosphorylation deficiency 41


name: biliary malformation with renal tubular insufficiency


name: X-linked severe syndromic thoracic aortic aneurysm and dissection


name: autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome


name: mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition


idiopathic torsion dystonia

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


canine leukemia

description: An acute or chronic malignant (clonal) hematologic disorder, arising from hematopoietic stem cells in dogs. It is characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood.


name: acinar dysplasia caused by mutation in FGF10

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


name: EPHB4-associated vascular malformation spectrum

description: Any vascular malformation in which the cause of the disease is a variation in the EPHB4 gene.


name: male infertility due to acephalic spermatozoa


name: congenital disorder of glycosylation, type IIbb


chromosome 1 disorder

description: Chromosomal disorder in which chromosome 1 is affected.


name: symptomatic form of hemophilia B in female carriers

description: A form of hemophilia B (see this term) that manifests in some women with mutations in the F9 gene (Xq28), encoding coagulation factor IX.


name: cerebellar ataxia, brain abnormalities, and cardiac conduction defects


benign neoplasm of neck

description: A benign neoplasm that involves the neck.


relapsing polychondritis

description: A rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage with joint, ocular and cardiovascular involvement.


integumentary system disorder

description: A disease involving the integumental system.


moderate heart failure

description: Heart failure characterized by marked limitation in activity due to symptoms, even during less-than-ordinary activity, e.g. walking short distances (20b100 m). Patients with moderate heart failure are comfortable only at rest.


name: leukemia, chronic lymphocytic, susceptibility to, 2


male urethral cancer

description: A cancer involving a male urethra.


name: acute myeloid leukemia, t(3;3)(q21.3;q26.2)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(3;3)(q21.3;q26.2). (A cytogenetic abnormality that refers to the translocation where both breakpoints are on the long arm (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.)


name: partial deletion of the long arm of chromosome 6

description: Chromosome 6q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 6q deletion include developmental delay, intellectual disability, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.


RPE65-related dominant retinopathy

description: A retinopathy caused by a heterozygous gain of function variant in the RPE65 gene.


name: red cell phospholipid defect with hemolysis


name: pulmonary alveolar proteinosis with hypogammaglobulinemia

description: A primarily a lung disorder characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis (PAP) in the first months of life. Affected individuals may have normal respiratory function at birth. Development of the disorder appears to be influenced or triggered by viral infection, manifest as progressive respiratory insufficiency, confluent consolidations on lung imaging, and diffuse collection of periodic acid-Schiff (PAS)-positive material in pulmonary alveoli associated with small and nonfoamy alveolar macrophages. Patients also have hypogammaglobulinemia, leukocytosis, and splenomegaly. Many patients die of respiratory failure in infancy or early childhood; hematopoietic stem cell transplantation (HSCT) is curative. The pathogenesis may be related to abnormal function of alveolar macrophages, resulting in decreased catabolism of surfactant. The disorder results from a gain-of-function effect that particularly affects B cells and monocytes.


familial vesicoureteral reflux

description: Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible.


NMNAT1-related retinopathy

description: A retinopathy, typically severe and early onset, caused by biallelic variants in the NMNAT1 gene. Some patients have been reported to have spondyloepiphyseal dysplasia syndrome, including sensorineural hearing loss, intellectual disability in addition to retinopathy. However, additional studies are needed to definitively describe this disease association.


name: mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6


name: brachyphalangy, polydactyly, and tibial aplasia/hypoplasia


name: neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia


type 1 interferonopathy of childhood

description: A type 1 interferonopathy that occurs during childhood.


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.


name: camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia

description: Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome is an extremely rare chondrodysplastic malformation syndrome that is characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly (hammertoes) and scoliosis. A mild facial dysmorphism including a broad nose and flaring nostrils, and a mild intellectual disability were also noted. Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome has been described once in 3 siblings and is suspected to follow autosomal recessive transmission. There have been no further descriptions in the literature since 1972.


name: lissencephaly with cerebellar hypoplasia type B

description: Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb.


malignant Sertoli-Leydig cell tumor

description: A malignant form of Sertoli-leydig cell tumor.


acute opioid poisoning

description: Acute opioid poisoning is a rare intoxication with opioids, a large group of alkaloid analgesics, mainly characterized by miosis (pinpoint pupil), respiratory depression (bradypnea/apnea) and central nervous system depression (sedation or coma). Other manifestations include hypotension, reduced bowel motility, hypothermia and hypoglycemia. Naloxone, a competitive inhibitor of the mu-opioid receptor, is a potent antagonist and is used as the antidote for opioid intoxication.


name: Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness


glioma susceptibility

description: An inherited susceptibility or predisposition to developing glioma.


spermatic cord cancer

description: A malignant neoplasm involving the spermatic cord.


name: idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy


sphenocavernous meningioma

description: A meningioma that affects the sphenocavernous region.


name: muscular dystrophy, congenital, with cerebellar atrophy


typhoidal tularemia

description: A tularemia that results in bacteremia and has symptom fever, has symptom chills, has symptom myalgia, has symptom malaise, and has symptom weight loss.


name: acquired aneurysmal subarachnoid hemorrhage

description: Acquired aneurysmal subarachnoid hemorrhage is a serious, life threatening rare neurologic disease characterized by a sudden rupture of an intracranial aneurysm into the subarachnoid space. It usually presents with a sudden, severe, excruciating headache accompanied by nausea, vomiting and syncope. Other features may include focal neurological signs, third and sixth nerve palsies, seizures and cardiac failure. Early complications include rebleeding, hydrocephalus, and seizures.


antibody mediated epilepsy

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


name: Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features


name: visceral neuropathy, familial, 2, autosomal recessive


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: mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A


benign idiopathic neonatal seizures

description: A rare neonatal epilepsy syndrome characterized by seizures without specific underlying etiology, occurring during the first days of life in infants with an otherwise normal neurological state and no family history of neonatal convulsions. The most commonly partial and clonic seizures usually last for one to three minutes. Repeated seizures may lead to status epilepticus lasting up to 20 hours. Overall, remission rates are high and neurological outcome is favorable.


name: benign paroxysmal tonic upgaze of childhood with ataxia

description: Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset.


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


trichomonal vulvovaginitis

description: An vulvovaginitis caused by infection with Trichomonas vaginalis.


stromal keratitis

description: Herpes simplex (HSV) stromal keratitis is an infectious ocular disease of either necrotizing or non-necrotizing form, due to an HSV infection, and characterized by corneal stromal necrosis, inflammation, ulceration and infiltration by leukocytes. Corneal perforation and blindness can also occur in severe cases.


name: aneurysm or dilatation of ascending aorta


ravine syndrome

description: Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies.


name: combined immunodeficiency with faciooculoskeletal anomalies

description: Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).


blood platelet disease

description: Disorders caused by abnormalities in platelet count or function.


Flynn-Aird syndrome

description: Flynn-Aird syndrome is a neuroectodermal disorder involving the nervous, cutaneous, skeletal, and glandular systems. It has been described in 10 members from five generations of one family. Clinical manifestations include eye abnormalities (cataracts, retinitis pigmentosa, and myopia), sensorineural deafness, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy and striking dental caries. Patients also present with muscle wasting, joint stiffness and bone cysts. Flynn-Aird syndrome is transmitted as an autosomal dominant trait. It shows some similarities to the syndromes of Werner, Refsum and Cockayne.


late-onset familial hypoaldosteronism

description: A rare form of familial hypoaldosteronism characterized by adult onset of subnormal plasma aldosterone with elevated plasma renin activity, hyperkalemia, metabolic acidosis, and hypotension. Signs and symptoms are typically mild, and affected individuals may be clinically asymptomatic and diagnosed only after biochemical screening.


paraurethral gland cancer

description: A malignant neoplasm involving the paraurethral gland.


diffuse lipomatosis

description: A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue. It has been associated with several genetic disorders and different clinical conditions such as liver disease, excessive alcohol intake, adrenocortical steroid therapy, and antiretroviral therapy.


name: hyper-IgE recurrent infection syndrome 4, autosomal recessive


name: follicular lymphoma, susceptibility to, 1


canine histiocytic sarcoma

description: A malignant neoplasm that affects dogs, characterized by the presence of malignant cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes.


name: multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome


name: mitochondrial complex 1 deficiency, nuclear type 12


bronchial endocrine tumor

description: A neuroendocrine neoplasm that involves the bronchus.


tetrasomy

description: A chromosomal disorder consisting of the presence of two chromosomes of the same type in addition to the normal diploid number.


exostoses, multiple, type 2

description: This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes.


intracranial meningioma

description: A meningioma that arises within the cranial cavity.


name: partial trisomy/tetrasomy of chromosome 9


pili gemini

description: Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair.


hemangioendothelioma

description: A vascular proliferation characterized by the presence of prominent endothelial cells and the formation of vascular channels. Hemangioendotheliomas may display borderline or low grade characteristics.


acquired factor XI deficiency

description: An acquired coagulation disorder characterized by the partial or complete absence of factor XI activity in the blood.


name: cataract, ataxia, short stature, and intellectual disability


name: intellectual developmental disorder with or without peripheral neuropathy


AKT3-related overgrowth spectrum

description: Any overgrowth syndrome where the cause of the disease is a gain-of-function variant in the AKT3 gene.


childhood choroid plexus neoplasm

description: A neoplasm that arises from the choroid plexus in the brain and occurs during childhood.


chemotherapy-induced hypertension

description: A form of hypertension that occurs as a direct result of chemotherapy treatment