vulva fibroepithelial polyp

description: A polypoid lesion that arises from the vulva and is characterized by the presence of fibrovascular stroma lined by squamous epithelium. There is no evidence of epithelial atypia.


focal chorioretinitis

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


herpes simplex virus keratitis

description: A superficial, epithelial Herpesvirus hominis infection of the cornea, characterized by the presence of small vesicles which may break down and coalesce to form dendritic ulcers (keratitis, dendritic). (Dictionary of Visual Science, 3d ed)


name: TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome

description: A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay or regression, variable congenital heart defects (such as patent ductus arteriosus, atrial or ventricular septal defects, and double outlet right ventricle, among others), and dysmorphic features (including ptosis, epicanthal folds, abnormally set/dysplastic ears, low hairline or excess nuchal skin, wide-spaced/inverted nipples, umbilical hernia or diastasis recti, and digital anomalies). Additional variable manifestations are hyper- or hypotonia, seizures, hearing loss, cortical blindness, and optic atrophy. Brain imaging may show cerebral and cerebellar atrophy and hydrocephalus.


astereognosia

description: An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight.


name: microcephaly sparse hair intellectual disability seizures


atrophic rhinitis

description: A chronic inflammation in which the nasal mucosa gradually changes from a functional to a non-functional lining without mucociliary clearance. It is often accompanied by degradation of the bony turbinates, and the foul-smelling mucus which forms a greenish crust (ozena).


tooth erosion, non-bacterial

description: Progressive loss of tooth tissue by chemical processes that do not involve bacterial action. (Jablonski, Dictionary of Dentistry, 1992, p296)


disorder of pharynx

description: A non-neoplastic or neoplastic disorder that affects the pharynx. Representative examples include pharyngitis and carcinoma.


skeletal muscle cancer

description: A malignant neoplasm arising from skeletal muscle.


trisomy 20p

description: Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features.


name: polydactyly of a biphalangeal thumb, unilateral


colchicine poisoning

description: A potentially life-threatening poisoning, due to ingestion of the drug or consumption of the plant Colchicum autumnale, that usually begins with gastrointestinal symptoms (e.g. abdominal pain, nausea, vomiting, and diarrhea, that cause severe dehydration) and an initial leukocytosis leading to marrow failure (24 hours after ingestion), followed by potentially fatal multi-organ failure with mental status change, oliguric renal failure, disseminated intravascular coagulation, electrolyte imbalance, acid-base disturbance, cardiac failure/arrest and shock within 1-3 days.


name: infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome


autoimmune epilepsy

description: An epilepsy that is characterized by new-onset refractory seizures along with subacute progressive cognitive decline and behavioral or psychiatric dysfunction.


Siberian tick typhus

description: A spotted fever that has material basis in Rickettsia sibirica, which is transmitted by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has symptom fever, has symptom eschar, has symptom regional adenopathy, and has symptom maculopapular rash.


cerebral gigantism-jaw cysts syndrome

description: Cerebral gigantism-jaw cysts syndrome is characterized by cerebral gigantism associated with a jaw cyst basal cell naevoid syndrome.


feline mammary carcinoma

description: Mammary carcinoma occurring in a cat.


CACNA1F-related retinopathy

description: Any retinopathy caused by a variant in the CACNA1F gene.


name: spinocerebellar degeneration with slow eye movements


name: 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete


name: kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome


name: congenital absence of both lower leg and foot, unilateral


acute stress disorder

description: An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by dissociative symptoms; vivid recollections of the traumatic event; avoidance of stimuli associated with the traumatic event; and a constant state of hyperarousal for no more than one month.


cutaneous diphtheria

description: A usually mild form of diphtheria characterized by infection of the skin by corynebacterium diphtheria and the resulting formation of a chronic, shallow ulcer that is sometimes bordered or followed by a bulla.


name: epileptic encephalopathy, infantile or early childhood


cherubism

description: Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases.


uterine corpus myxoid leiomyosarcoma

description: A morphologic variant of leiomyosarcoma arising from the uterus corpus. It is characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma.


Tel Hashomer camptodactyly syndrome

description: Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics.


dysraphic spinal cord lipoma

description: A rare group of spinal cord lipoma characterized by the presence of extramedullary lipomatous mass located at any point along the spinal cord with or without a dural defect.


name: Charcot-Marie-Tooth disease, axonal, type 2FF


ST2 diffuse large B-cell lymphoma

description: A diffuse large B-cell lymphoma that is categorized as ST2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and ST2 DLBCLs often, but do not always, have missense or nonsense mutations affecting TET2 and NFKBIA. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting some combination of SGK1, ZFP36L1, SOCS1, HIST1H1E and CD83, which can be coding or non-coding.


uterine corpus neuroendocrine neoplasm

description: An epithelial neoplasm with neuroendocrine differentiation that arises from the uterine corpus. It includes carcinoid tumor, small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma.


name: immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia


name: Turner syndrome due to structural X chromosome anomalies


name: genital herpes simplex type 1 infectious disorder

description: Any herpes simplex type 1 infectious disease that involves the genitals.


name: polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2


Martinez Monasterio Pinheiro syndrome

description: A form of blepharo-cheilo-dontic syndrome with with cleft lip and palate, complete absence of deciduous teeth, hypodontia of permanent teeth, hair alterations, hypertelorism, midface hypoplasia, abnormal EEG, syndactyly, and other findings. This is an n-of-1 use case where only one patient or family has been described with this disorder.


name: peroxisome biogenesis disorder due to PEX19 defect

description: Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX19 gene.


name: microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies


name: GNAO1-related developmental delay-seizures-movement disorder spectrum


name: pure or complex hereditary spastic paraplegia


odontogenic cyst

description: A cyst in the jaw that arises from tissues of tooth development.


name: cerebroretinal microangiopathy with calcifications and cysts 3


urinary system disorder

description: A disease involving the renal system.


aniridia-absent patella syndrome

description: Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975.


glandular tularemia

description: A tularemia that involves the lymph node.


intestinal polyposis syndrome

description: A syndrome associated with the development of multiple polyps throughout the intestine. It includes familial adenomatous polyposis , hamartomatous polyposis syndromes, and other rare polyposis syndromes.


eye degenerative disorder

description: A neurodegenerative disease that involves the eye.


name: benign female reproductive system neoplasm

description: A non-metastasizing neoplasm that arises from the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, and benign ovarian germ cell tumor.


name: X-linked intellectual disability, Porteous type


prostate rhabdomyosarcoma

description: A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the prostate.


clitoris cancer

description: A malignant neoplasm that affects the clitoris.


benign tumor of palpebral epidermis

description: A benign neoplasm that involves the skin of eyelid.


name: cystic fibrosis-gastritis-megaloblastic anemia syndrome

description: A rare genetic disease reported in two siblings of consanguineous Arab parents and is characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991.


neurally mediated hypotension

description: Neurally mediated hypotension is a sudden drop in blood pressure while an individual stands up. It occurs when there is an abnormal reflex interaction between the heart and the brain, both of which usually are structurally normal


name: neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies


clitoris neoplasm

description: A neoplasm involving a clitoris.


deafness-vitiligo-achalasia syndrome

description: Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia.


Wiskott-Aldrich syndrome

description: Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies.


photokeratitis

description: Injury to the cornea secondary to ultraviolet light.


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


name: adult-onset progressive leukoencephalopathy-early-onset deafness

description: A rare genetic neurological disorder characterized by congenital or early-onset sensorineural deafness and adult-onset progressive leukoencephalopathy. Progressive cognitive impairment and behavioral abnormalities are observed in the second or third decade of life, sometimes preceded by mild developmental delay and learning difficulties. Visual impairment in adult age has been reported. No central nervous system calcification is reported.


hamartoma of skin appendage

description: A hamartoma (disease) that involves the cutaneous appendage.


multiple endocrine neoplasia

description: Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs.


inherited rippling muscle disease

description: A rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase.


name: musculoskeletal system disorder, non-human animal

description: Musculoskeletal system disorder that occurs in non-human animals.


chronic monocytic leukemia, dog

description: Chronic monocytic leukemia that occurs in dog.


delayed membranous cranial ossification

description: Delayed membranous cranial ossification is a rare, genetic primary bone dysplasia characterized by absent ossification of calvarial bones at birth and characteristic facial dysmorphisms (frontal bossing, hypertelorism, downward-slanting palpebral fissures, proptosis, flat nasal bridge, low-set ears, midface retrusion). Patients present a soft skull at birth which, over time, progressively ossifies and in adulthood typically results in a deformed skull (with brachycephaly and prominent occiput). No other skeletal abnormalities are associated and patients have normal cognitive and motor development.


name: autosomal dominant nonsyndromic hearing loss 27

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.1.


name: peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain

description: Any peroxisome biogenesis disorder due to PEX5 in which the cause of the disease is a mutation in the PEX7-binding domain of the PEX5 gene.


name: GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes

description: A congenital heart disease that is present at birth. Representative examples include atrial septal defect 9, conotruncal heart malformations, tetralogy of Fallot, ventricular septal defect, atrioventricular septal defect, bicuspid aortic valve, transposition of the great arteries, persistent truncus arteriosus, congenital heart disease with pancreatic agenesis, and congenital heart disease with neonatal diabetes.


name: optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant


name: uterine corpus epithelioid leiomyosarcoma

description: A morphologic variant of leiomyosarcoma arising from the uterine corpus. It is characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm.


name: neuropathy, hereditary sensory, atypical

description: A hereditary sensory neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities.


cataract 8 multiple types

description: A cataract that has material basis in variation in the region 1pter-p36.13.


name: hereditary persistence of fetal hemoglobin-sickle cell disease syndrome

description: A rare, genetic, hemoglobinopathy characterized by generally mild clinical phenotype, high fetal hemoglobin levels and mild microcytosis and hypochromia. In some cases, acute sickle cell disease manifestations were reported, namely acute chest syndrome and acute pain crisis. The genotype is characterized by the combination of an HbS and HbF allele; symptoms depend on the degree of HbF:HbS expressivity with patients with more than 35% pancellular HbF expression being asymptomatic. Symptomatic patients have heterocellular expression of HbF.


subacute leukemia

description: A leukemia that is in between acute and chronic leukemia and is characterized by a moderate duration or severity.


name: myopathy, congenital, with fiber-type disproportion, X-linked


name: spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome

description: Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome is characterized by nonprogressive spastic paraplegia, retinitis pigmentosa, and intellectual deficit. It has been described in two brothers born to consanguineous parents.


description: Brachytelephalangy - dysmorphism - Kallmann syndrome is a developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome). Brachytelephalangy - dysmorphism - Kallmann syndrome has been described in a mother and her son and there have been no further descriptions in the literature since 1986.


description: 46,XX disorder of sex development-anorectal anomalies syndrome is a rare developmental defect during embryogenesis syndrome characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), müllerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut.


name: atrioventricular defect-blepharophimosis-radial and anal defect syndrome

description: Atrioventricular defect-blepharophimosis-radial and anal defect syndrome is a rare, genetic multiple congenital anomaly syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.


name: short stature and Facioauriculothoracic malformations


name: qualitative or quantitative defects of tropomyosin


name: neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements


familial multiple meningioma

description: Familial multiple meningioma is a rare, benign neoplasm of the central nervous system characterized by the development of multiple or, rarely, solitary meningiomas in two or more blood relatives, without other apparent syndromic manifestations. Depending on the localization, growth rate and size of the tumors, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic.


Blake pouch cyst

description: Blake pouch cyst is a non-syndromic, usually benign, cystic malformation of the posterior fossa characterized by a midline outpouching of the superior medullary velum into the cisterna magna that results from failure of the rudimental fourth ventricular tela choroidea to regress during embryogenesis. Patients can be asymptomatic or present in childhood or adulthood with clinical manifestations of hydrocephalus, such as headache, hypotonia, vertigo, syncope, vomiting, blurred or double vision, nystagmus, papilledema, and delayed gait development.


SPAST-related motor disorder

description: Heterozygous variants in SPAST have been reported in relation to pure spastic paraplegias (infantile, ascending), complicated or complex spastic paraplegia (with dementia, cerebellar ataxia, epilepsy, and/or peripheral neuropathy) and cerebral palsy. Age of symptom onset ranges from neonatal to advanced age with varying symptom severity,


name: GYG1-related disorder of glycogen metabolism

description: Any disorder of glycogen metabolism in which the cause of disease is a mutation in the GYG1 gene.


name: symbrachydactyly of hand and foot, bilateral


name: parotid salivary glands, polycystic dysgenetic disease of


name: nystagmus 7, congenital, autosomal dominant


SERAC1-related neurological disorder

description: Any neurological disorder in which the cause of the disease is a mutation in the SERAC1 gene.


name: agammaglobulinemia 8b, autosomal recessive


name: classic pantothenate kinase-associated neurodegeneration


conventional osteosarcoma

description: A high grade malignant bone-forming mesenchymal neoplasm producing osteoid. The tumor arises from the medullary portion of the bone. It affects the long bones and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis.


name: immunodeficiency 14b, autosomal recessive


tibial neuropathy

description: Disease of the tibial nerve (also referred to as the posterior tibial nerve). The most commonly associated condition is the tarsal tunnel syndrome. However, leg injuries; ischemia; and inflammatory conditions (e.g., collagen diseases) may also affect the nerve. Clinical features include paralysis of plantar flexion, ankle inversion and toe flexion as well as loss of sensation over the sole of the foot. (From Joynt, Clinical Neurology, 1995, Ch51, p32)


pudendal neuralgia

description: Pudendal neuralgia (PN) is a chronic neuropathic pain, aggravated by sitting and for which no organic cause can be found by imaging studies. It is often associated with pelvic dysfunction.


corpus uteri neoplasm

description: A neoplasm (disease) that involves the body of uterus.


sparganosis

description: A condition resulting from infection with the second stage larvae of the parasite Spirometra.


description: A neurodevelopmental disorder in which the cause of the disease is a mutation in the DPH5 gene, which is characterized by craniofacial dysmorphology, profound neurodevelopmental delay, multisystem abnormalities, and miscarriages.


name: intellectual disability, Buenos-Aires type

description: Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe.


Bifidobacteriales infectious disease

description: Infections with BACTERIA of the order Bifidobacteriales. This includes infections in the genera BIFIDOBACTERIUM and GARDNERELLA, in the family Bifidobacteriaceae.


name: combined immunodeficiency due to LRBA deficiency


GRM6-related retinopathy

description: An inherited retinopathy caused by bi-allelic variants in the GRM6 gene.


mosaic variegated aneuploidy syndrome

description: Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.


name: Bordetella parapertussis infectious disease

description: Any disease caused by infection with by Bordetella parapertussis. The symptoms are similar but less severe than Bordetella pertussis whooping cough.


name: muscular dystrophy, Duchenne type, non-human animal

description: Muscular dystrophy, Duchenne type that occurs in non-human animals.


nephrogenic adenofibroma

description: A benign, solitary, and partially cystic neoplasm arising from the kidney. It occurs in children and adults. Presenting symptoms include hematuria and polycythemia. It is characterized by the presence of epithelial nodules embedded in a stroma containing spindle cells.


atypical carcinoid tumor

description: A carcinoid tumor characterized by a high mitotic rate, often associated with the presence of necrosis and nuclear pleomorphism.


ligament disorder

description: A disease or disorder that involves the ligament.


name: microcephaly-complex motor and sensory axonal neuropathy syndrome

description: Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis.


myofibroblastoma

description: A benign, well circumscribed soft tissue neoplasm characterized by the presence of spindle shaped myofibroblasts and mast cells in a collagenous stroma.


papular mucinosis of infancy

description: Papular mucinosis of infancy is a rare pediatric non progressive form of localized lichen myxedematosus characterized by the development of firm opalescent mucinous papules on the upper arms and the trunk.


name: central polydactyly of fingers, unilateral


COL4A1-related disorder

description: The spectrum of COL4A1-related disorders includes small-vessel brain disease of varying severity including porencephaly, variably associated with eye defects (retinal arterial tortuosity, Axenfeld-Rieger anomaly, cataract) and systemic findings (kidney involvement, muscle cramps, cerebral aneurysms, Raynaud phenomenon, cardiac arrhythmia, and hemolytic anemia).


chromosome 9 disorder

description: Chromosomal disorder in which chromosome 9 is affected.


diabetic embryopathy

description: Diabetic embryopathy is characterized by congenital anomalies or fetal/neonatal complications in an infant that are linked to diabetes in the mother.


peripheral precocious puberty

description: Precocious puberty caused by sex hormones.


name: neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies


small size posterior uveal melanoma

description: Ciliary body and choroid melanoma measuring less than 10 mm in greatest diameter.


name: aniridia - intellectual disability syndrome

description: Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974.


tuberculosis, non-human animal

description: Tuberculosis that occurs in non-human animals.


uveal cancer

description: A primary or metastatic malignant neoplasm that affects the choroid, ciliary body, or iris.


name: epidermolysis bullosa, junctional 2B, severe


endometrial stromal tumor

description: Neoplasms of the endometrial stroma that sometimes involve the myometrium. These tumors contain cells that may closely or remotely resemble the normal stromal cells. Endometrial stromal neoplasms are divided into three categories: (1) benign stromal nodules; (2) low-grade stromal sarcoma, or endolymphatic stromal myosis; and (3) malignant endometrial stromal sarcoma (sarcoma, endometrial stromal).


description: A precancerous condition characterized by the presence of somatic mutations in bone marrow or peripheral blood cells in individuals who may be cytopenic but do not have morphologic evidence of hematologic neoplasia. Its prevalence rises with age and is found in approximately 10% of individuals aged 70 to 80. It is associated with an increased risk of hematologic neoplasia. Mutations in the DNMT3A, TET2, or ASXL1 genes are usually identified. Approximately 10%-40% of individuals with age-related clonal hematopoiesis will progress to meet the diagnostic criteria for clonal hematopoiesis of indeterminate potential.


name: dextro-looped transposition of the great arteries

description: Congenitally uncorrected transposition of the great arteries (congenitally uncorrected TGA), also referred to as complete transposition, is a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial (VA) discordance.


name: autoimmune disease, multisystem, infantile-onset


name: leukemia, acute lymphoblastic, susceptibility to, 3

description: Any precursor B-cell acute lymphoblastic leukemia in which the cause of the disease is a mutation in the PAX5 gene.


hereditary multiple osteochondromas

description: A bone neoplasm characterized by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones.


specific phobia

description: An anxiety disorder characterized by an intense, irrational fear cued by the presence or anticipation of a specific object or situation. Exposure to the phobic stimulus immediately provokes an anxiety response. In adults, the specific phobia is recognized as excessive or unreasonable.


name: preauricular tag, isolated, autosomal dominant, 1


name: maternal uniparental disomy of chromosome 6

description: Maternal uniparental disomy of chromosome 6 is an uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes.


syndromic craniosynostosis

description: A craniosynostosis that is part of a larger syndrome.


name: myopathy due to malate-aspartate shuttle defect


name: acute myeloid leukemia, t(3;12)(q23;p12.3)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(3;12)(q23;p12.3). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 3 and the short arm (p12.3) of chromosome 12. It is associated with ETV6/MECOM (EVI1) fusions, myeloproliferative disorders, myelodysplastic syndromes and acute myelogenous leukemia.)


transverse vaginal septum

description: A rare vaginal malformation characterized by the presence of a complete or incomplete transverse septum at any level of the vagina (most frequently the upper or middle third), resulting from incomplete fusion between the Müllerian duct component and the urogenital sinus component of the vagina during embryogenesis. The condition is only rarely diagnosed in neonates or infants, unless it causes significant hydromucocolpos. Complete septa present with primary amenorrhea, cyclic pelvic pain, dyspareunia, or a pelvic mass consisting of accumulated menstrual blood, while incomplete septa may lead to dyspareunia and dysmenorrhea.


name: myopathy, distal, 7, adult-onset, X-linked


name: silver-Russell syndrome due to an imprinting defect of 11p15


name: neuronopathy, distal hereditary motor, autosomal recessive 8


sinoatrial node disorder

description: A disease involving the sinoatrial node.


name: retinopathy, pigmentary, and intellectual disability


name: IL21-related infantile inflammatory bowel disease


name: mitochondrial complex 1 deficiency, nuclear type 27


conjunctival cancer

description: A malignant neoplasm involving the conjunctiva.


name: neuronopathy, distal hereditary motor, autosomal dominant 10


multicentric Castleman disease

description: Multicentric castleman disease (MCD) is an aggressive form of Castleman disease that mostly results from human herpesvirus 8 (HHV8) infection. It manifests by fever, diffuse lymphadenopathy, hepatosplenomegaly, Involvement of the respiratory system and increased C-reactive protein.


name: chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids


flat urothelial hyperplasia

description: A type of hyperplasia that is characterized by a marked thickening of the urinary tract epithelium. There is no evidence of cytologic atypia. -- 2003


name: amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis


name: immunodeficiency 101 (varicella zoster virus-specific)


spondylometaphyseal dysplasia

description: Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life.


neoplasm of parietal lobe

description: A neoplasm (disease) that involves the parietal lobe.


lymphogranuloma venereum

description: Infection with the organism Mycobacterium.


polycythemia neonatorum

description: A condition in which the red blood cell level is greater than established reference ranges in a newborn.


ring chromosome 6

description: Ring chromosome 6 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial dysmorphism (incl. microcephaly, microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full lips, micrognathia), central nervous system anomalies (e.g. hydrocephalus, cortical atrophy, ventriculomegaly), short neck, and delayed bone age. Cardiac defects, limb anomalies, hip joint malformations, and seizures have also been reported.


name: ichthyosis-oral and digital anomalies syndrome

description: Ichthyosis-oral and digital anomalies syndrome is characterized by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two sibs born to first cousin parents. Transmission appears to be autosomal recessive.


name: superior transverse scapular ligament, calcification of, familial


name: neurofacioskeletal syndrome with or without renal agenesis


name: high-grade neuroendocrine carcinoma of the cervix uteri

description: High-grade neuroendocrine carcinoma of the cervix uteri is a rare, aggressive, primary cervical neoplasm, originating from neuroendocrine cells present in the lining epithelium of the cervix, characterized, macroscopically, by usually large lesions, sometimes with a barrel-shaped appearance. Patients often present with abnormal vaginal bleeding or discharge, pelvic/abdominal pain, post-coital spotting and/or dysuria, while symptoms related to carcinoid syndrome are not frequent.


name: antigen defined by monoclonal antibody T87


name: blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome

description: Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure.


B-cell prolymphocytic leukemia

description: A neoplasm of prolymphocytes affecting the blood, bone marrow, and spleen. It is characterized by prolymphocytes exceeding 55% of the lymphoid cells in the blood and profound splenomegaly.


autosomal dominant cataract

description: A syndromic cataract that has autosomal dominant inheritance.


acute laryngitis

description: An acute inflammatory process affecting the larynx. It is caused by bacteria, viruses, or vocal strain. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness.


name: ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis


name: hearing loss, autosomal recessive 118, with cochlear aplasia


name: partial deletion of the long arm of chromosome 5


hemopneumothorax

description: Collection of air and blood in the pleural cavity.


diploid-triploid mosaicism

description: Diploid-triploid mosaicism is a chromosome disorder. Individuals with diploid-triploid syndrome have some cells with three copies of each chromosome for a total of 69 chromosomes (called triploid cells) and some cells with the usual 2 copies of each chromosome for a total of 46 chromosomes (called diploid cells). Having two or more different cell types is called mosaicism. Diploid-triploid mosaicism can be associated withtruncal obesity, body/facial asymmetry, weak muscle tone (hypotonia), delays in growth,mild differences infacial features, fusion or webbing between some of the fingers and/or toes (syndactyly) and irregularities in the skin pigmentation. Intellectual disabilities may be present but are highly variable from person to person ranging from mild to more severe. The chromosome disorder is usually not present in the blood; a skin biopsy, or analyzing cells in the urine is needed to detect the triploid cells.


animal phobia

description: An overwhelming, irrational, and persistent fear of animals.


name: idiopathic peripheral autonomic neuropathy


name: multisystem autoimmune disease due to IKAROS gain of function

description: An autoimmune disease caused by a loss-of-function variation in the IKZF1/IKAROSgene. Leukocytes of patients exhibited specific defects including impaired IL-2 production by T cells, T helper (TH) skewing toward TH2, low numbers of regulatory T cells (Treg), eosinophilia, and abnormal PC proliferation.


PRPF31-related retinopathy

description: An inherited retinopathy caused by variants in the PRPF31 gene.


chemotherapy-induced toxicity

description: Toxicities following administration of chemotherapeutic agents


name: developmental and epileptic encephalopathy 98


scleromalacia perforans

description: A rare form of necrotizing anterior scleritis without pain in which the sclera is notably white, avascular and thin. Both choroidal exposure and staphyloma formation may occur.


name: Ullrich congenital muscular dystrophy 1B


leiomyoma of ciliary body

description: A leiomyoma that involves the ciliary body.


name: neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities


gummatous syphilis

description: A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ.


submandibular gland disorder

description: A disease involving the submandibular gland.


diffuse neonatal hemangiomatosis

description: Diffuse neonatal hemangiomatosis is a rare vascular tumor from unknown origin characterized by multiple, progressive, rapidly growing cutaneous hemangiomas (e.g. in the scalp, face, trunk and extremities) associated with widespread visceral hemangiomas in the liver, lungs, gastrointestinal tract, brain, and meninges.


name: cerebellar, ocular, craniofacial, and genital syndrome


name: autosomal recessive congenital cerebellar ataxia


name: Okihiro syndrome due to a point mutation


canine granular cell tumor

description: A granular cell tumor occurring in a dog.


hereditary hyperparathyroidism

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


name: cerebellar atrophy, developmental delay, and seizures


acute myeloid leukemia, t(2;12)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(2;12). (A cytogenetic abnormality that involves a translocation between chromosomes 2 and 12.)


name: spastic paraplegia-epilepsy-intellectual disability syndrome


name: spondylometaphyseal dysplasia with corneal dystrophy


BARD1-related cancer predisposition

description: Hereditary cancer predisposition due to variation(s) in the BARD1 gene. Germline pathogenic or likely pathogenic variants in the BARD1 gene confer a moderate risk of breast cancer, inherited in an autosomal dominant pattern, increasingly documented to be specific to triple negative breast cancer in women. BARD1 cancer susceptibility syndrome is also associated with other tumour types including neuroblastoma.


familial multiple discoid fibromas

description: A rare, genetic, skin tumor disorder characterized by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominantly located on the face, ears, neck and trunk, not associated with systemic organ involvement, associated malignancies or FLCN gene locus mutation.


name: generalized epilepsy with febrile seizures plus, type 4


description: Spastic paraplegia-neuropathy-poikiloderma syndrome is a complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992.


benign reproductive system neoplasm

description: A non-metastasizing neoplasm that arises from the male or female reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, uterine corpus leiomyoma, and benign ovarian serous tumor.


IgG4-related pachymeningitis

description: Idiopathic hypertrophic pachymeningitis (IHP) is a rare disorder causing inflammation and thickening of the outer layer (dura) of the brain and/or spinal cord. IHP can be widespread or cause tumor-like lesions. Before IHP can be diagnosed, other conditions including sarcoidosis, tumors, meningioma, infections (syphilis, tuberculosis, and Lyme disease), and autoimmune diseases (rheumatoid arthritis, Sjogrenbs syndrome, Wegenerbs granulomatosis, and IgG4-related disease) must be ruled out. IHP often presents with headache and cranial nerve impairment. Treatment may involve prednisone and/or an immune suppressing drug. This treatment often improves symptoms, however complete recovery is rare. Surgery may be recommended for people with advanced or severe IHP. Some people with IHP have no symptoms and may not need treatment.


adrenal gland neoplasm

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


subdural empyema

description: An intracranial or rarely intraspinal suppurative process invading the space between the inner surface of the dura mater and the outer surface of the arachnoid.


name: keratosis follicularis spinulosa decalvans, autosomal dominant


ecthyma

description: An ulcerative pyoderma usually caused by group A beta-hemolytic streptococcal infection at the site of minor trauma. (Dorland, 27th ed)


mycosis fungoides, dog

description: Mycosis fungoides that occurs in dog.


name: silver-Russell syndrome due to maternal uniparental disomy of chromosome 11


skeletal system disorder

description: A disease involving the skeletal system.


name: omphalocele, diaphragmatic hernia, and radial ray defects


disorder of facial skeleton

description: A disease that involves the facial skeleton.


CEP290-related ciliopathy

description: A ciliopathy caused by biallelic variants in the CEP290 gene.


nasal disorder

description: A disease involving the nose.


Pediculus humanus corporis infestation

description: A infectious disease involving the Pediculus humanus corporis.


name: ectodermal dysplasia-sensorineural deafness syndrome

description: Ectodermal dysplasia-sensorineural deafness syndrome is characterized by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive.


benign spiradenoma

description: A benign epithelial neoplasm with eccrine or apocrine differentiation, arising from the sweat glands. It usually presents as a solitary, well circumscribed, firm nodule in the face and upper trunk. It is characterized by the presence of basaloid cells forming nodules in the dermis. Cases of carcinoma arising from long standing spiradenomas have been reported.


labium majus cancer

description: A malignant neoplasm involving the labium majora.


name: muscular dystrophy, limb-girdle, autosomal recessive 23


nephroma

description: A kidney benign neoplasm that is located in the kidney cortex.


name: Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia


conjunctival tumor

description: A benign or malignant neoplasm that affects the conjunctiva. Representative examples include papilloma, squamous cell carcinoma, and melanoma.


name: Kleefstra syndrome due to a point mutation


name: infant epilepsy with migrant focal crisis

description: An infantile epilepsy syndrome characterized by early-onset progressive encephalopathy with migrant, continuous myoclonus. Three cases have been reported. The focal continuous myoclonus appeared during the first months of life. Prolonged bilateral myoclonic seizures and generalized tonic-clonic seizures occurred later. Subsequently, a progressive encephalopathy with hypotonia and ataxia appeared. Cortical atrophy was revealed by computed tomography (CT) scan and magnetic resonance imaging (MRI). The etiology is unknown.


fetal parvovirus syndrome

description: Foetal parvovirus syndrome is a foetopathy likely to occur when a pregnant woman is infected by parvovirus B19. In adults, the virus causes a butterfly erythema infectiosum (also called Fifth Disease; 'slapped cheek disease') and flu-like symptoms with symmetric polyarthralgias, which usually do not warrant prenatal diagnosis.


parametrium malignant neoplasm

description: A malignant neoplasm involving the parametrium.


name: leukemia, chronic lymphocytic, susceptibility to, 3


necrosis of pituitary

description: Ischemic or hemorrhagic necrosis of the pituitary gland.


name: intellectual developmental disorder, autosomal dominant 70


name: cardioauditory syndrome of Sanchez Cascos


discrete subaortic stenosis

description: A type of constriction that is caused by the presence of a fibrous ring (discrete type) below the aortic valve, anywhere between the aortic valve and the mitral valve. It is characterized by restricted outflow from the left ventricle into the aorta.


name: bladder inflammatory myofibroblastic tumor

description: A multinodular intermediate fibroblastic neoplasm arising from the bladder. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells.


laryngeal diphtheria

description: Infection of the larynx by Corynebacterium diphtheriae.


name: pauci-immune glomerulonephritis without ANCA

description: Pauci-immune glomerulonephritis (GN) without antineutrophilic cytoplasmic antibodies (ANCA) is a form of rapidly progressive glomerulonephritis comprising 10-43% of pauci-immune glomerulonephritis and characterized by the absence of ANCA. In comparison with pauci-immune GN with ANCA, patients lacking ANCA may be younger at onset of the disease and have a shorter interval from onset of the disease to diagnosis. They have fewer extra renal manifestations (e.g. involvement of lung, eye, ear, nose and throat), fewer constitutional symptoms (e.g. fever, weight loss, muscle pain and arthralgia) and a high prevalence of nephrotic syndrome and chronic renal lesions. Their prognosis is generally poorer.


name: partial trisomy/tetrasomy of the short arm of chromosome 12


bordetellosis

description: Any disease caused by infection with organisms of the genus Bordetella.


Rickettsiaceae infectious disease

description: Infections with bacteria of the family rickettsiaceae.


de Quervain disease

description: Stenosing tenosynovitis of the abductor pollicis longus and extensor pollicis brevis tendons in the first dorsal wrist compartment. The presenting symptoms are usually pain and tenderness at the radial styloid. The cause is almost always related to overuse injury or is associated with rheumatoid arthritis.


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

description: Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) is a rare subtype of acute myeloid leukemia with recurrent cytogenetic abnormalities characterized by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anemia, thrombocytopenia and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease.


name: mild phosphoribosylpyrophosphate synthetase superactivity

description: Mild phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the mild and late-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, leading to urolithiasis and gout. This form is not associated with any neuropathy or central nervous system (CNS) disorders.


name: pseudoxanthoma elasticum (inherited or acquired)

description: An inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract.


polyp of ethmoidal sinus

description: A polyp that involves the ethmoid sinus.


dystonia 21

description: Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia.


Crimean-Congo hemorrhagic fever

description: Crimean-Congo hemorrhagic fever (CCHF) is a tick-borne zoonotic disease caused by CCHF virus and characterized by initial fever, headache, and malaise followed by gastrointestinal symptoms and, in severe cases, bleeding, shock, and multi-organ system failure.


name: retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome

description: A rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches.


name: low-grade neuroendocrine tumor of the corpus uteri

description: Low-grade neuroendocrine tumor of the corpus uteri is an extremely rare uterine cancer typically characterized by a well demarcated, solid, frequently pedunculated tumor originating from neuroendocrine cells scattered within the endometrium, often associated with ectopic hormone production. Patients usually present with vaginal bleeding or discharge and a pelvic mass with a polypoid tumor sometimes protruding through the cervical canal. Symptoms related to ectopic hormone production (flushing, sweating, diarrhea, bronchospasm) may also develop.


name: glaucoma secondary to spherophakia/ectopia lentis and megalocornea

description: Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate.


lower urinary tract calculus

description: A urolithiasis that involves the lower urinary tract.


gonadal disorder

description: A non-neoplastic or neoplastic disorder that affects the testis or the ovary.


name: metaphyseal undermodeling, spondylar dysplasia, and overgrowth


localized lichen myxedematosus

description: Localized lichen myxedematosus is a group of skin diseases characterized by the development of papules, nodules and/or plaques with mucin deposits and a variable degree of fibrosis in the absence of thyroid disease. The group comprises five sub-forms: nodular lichen myxedematosus, discrete papular lichen myxedematosus, papular mucinosis of infancy, acral persistent papular mucinosis and self-healing papular mucinosis.


suprasellar meningioma

description: A meningioma that affects the suprasellar region.


RDH5-related retinopathy

description: A retinopathy caused by bialleleic variants in the RDH5 gene, often involving flecks in the retina.


obesity-hypoventilation syndrome

description: Hypoventilation syndrome in very obese persons with excessive adipose tissue around the abdomen and diaphragm is characterized by diminished to absent ventilatory chemoresponsiveness; chronic hypoxia; hypercapnia; polycythemia; and long periods of sleep during day and night (hypersomnolence). It is a condition often related to obstructive sleep apnea but can occur separately.


nerve agent poisoning

description: A poisoning that is caused by exposure to a nerve agent or gas.


name: inflammatory myopathy with abundant macrophages

description: Inflammatory myopathy with abundant macrophages is a rare inflammatory myopathy characterized by diffuse destructive infiltration of CD68+ macrophages into the fascia rather than muscle fibers in muscle biopsies, proximal muscle weakness and myalgia with or without scaly dermatomyositis-like or atypical non-dermatomyositis-like skin lesions, elevation of creatine kinase levels and thickening of muscle fascia in muscle MRI.


patellofemoral pain syndrome

description: A syndrome characterized by retropatellar or peripatellar pain resulting from physical and biochemical changes in the patellofemoral joint. The pain is most prominent when ascending or descending stairs, squatting, or sitting with flexed knees. There is a lack of consensus on the etiology and treatment. The syndrome is often confused with (or accompanied by) chondromalacia patellae, the latter describing a pathological condition of the cartilage and not a syndrome.


acropectoral syndrome

description: Acro-pectoral syndrome is characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations. It has been described in 22 patients from a six-generation Turkish family. It is transmitted as an autosomal dominant trait and the causative gene is located at 7q36.


name: 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial


Shwartzman phenomenon

description: Hemorrhagic necrosis that was first demonstrated in rabbits with a two-step reaction, an initial local (intradermal) or general (intravenous) injection of a priming endotoxin (endotoxins) followed by a second intravenous endotoxin injection (provoking agent) 24 h later. The acute inflammation damages the small blood vessels. The following intravascular coagulation leads to capillary and venous thrombosis and necrosis. Shwartzman phenomenon can also occur in other species with a single injection of a provoking agent, and during infections or pregnancy. Its susceptibility depends on the status of immune system, coagulation, fibrinolysis, and blood flow.


name: autosomal recessive centronuclear myopathy

description: Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.


mosaic trisomy 3

description: Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities.


steroid inherited metabolic disorder

description: Errors in metabolic processing of steroids resulting from inborn genetic mutations that are inherited or acquired in utero.


name: paternal uniparental disomy of chromosome 5

description: Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.


complete trisomy 21

description: Trisomy 21 characterized by the presence of an extra chromosome 21 in all the cells of the organism.


name: Huntington disease-like syndrome due to C9ORF72 expansions


idiopathic neonatal atrial flutter

description: Idiopathic neonatal atrial flutter (AFL) is a rare rhythm disorder, characterized by sustained tachycardia in newborns and infants with an atrial rate often at around 440 beats/minute (range 340-580). AFL may manifest as asymptomatic tachycardia, congestive heart failure or hydrops.


name: unspecified juvenile idiopathic arthritis

description: Unspecified juvenile idiopathic arthritis is a rare, pediatric, rheumatologic disease, a subtype of juvenile idiopathic arthritis (JIA) characterized by arthritis of an unknown cause that persists for at least 6 weeks, and does not fulfill the criteria for any of the other JIA subtypes, or fulfills criteria for more than one of the other subtypes.


kernicterus due to isoimmunization

description: Encephalopathy in infants due to high levels of unconjugated bilirubin that are a result of Rh incompatibility between the mother and the fetus.


name: steroid dehydrogenase deficiency-dental anomalies syndrome

description: Steroid dehydrogenase deficiency-dental anomalies syndrome is an autosomal recessive liver disease which was associated with numerical dental aberrations in a consanguineous Arabi Saudi family. This association suggests that the same gene is involved in both defects. General hypomineralisation and enamel hypoplasia found in this family is thought to be secondary to malabsorption due to liver disease.


schizophrenia 16

description: A schizophrenia that has material basis in a mutation on chromosome 7q36.3.


corneal abscess

description: An abscess of the cornea.


muscular dystrophy, dog

description: Muscular dystrophy that occurs in dog.


intramural coronary arterial course

description: Intramural coronary arterial course is a rare coronary artery congenital malformation disorder characterized by an atypical course of a coronary artery (usually proximal left anterior descending artery) in which, for a variable length, the artery runs intramyocardally. Depending on the artery and length of segment involved, patients may be asymptomatic or may present variable manifestations ranging from atypical angina to sudden death.


benign blood vessel neoplasm

description: A benign neoplasm arising from arteries or veins.


dental pulp disorder

description: A disease involving the dental pulp.


name: primary central nervous system vasculitis


name: microcephalic primordial dwarfism, Toriello type

description: Microcephalic primordial dwarfism, Toriello type is characterized by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive.


acute transverse myelitis

description: Acute transverse myelitis (ATM) is an inflammatory demyelinating disorder of the spinal cord that can be either idiopathic (IATM) or secondary to a known cause (SATM).


description: Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, cafC)-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986.


name: autosomal dominant nonsyndromic hearing loss 7

description: An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has material basis in variation in the chromosome region 1q21-q23.


name: dyskeratosis congenita, autosomal recessive 7


bronchus cancer

description: A malignant neoplasm involving the bronchus


Robin sequence-oligodactyly syndrome

description: Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986.


name: punctate acrokeratoderma freckle-like pigmentation


name: myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive


name: MELAS syndrome caused by mutation in MTND5

description: Any MELAS syndromein which the cause of the disease is a mutation in the MTND5 gene.


self-limited neonatal seizures

description: A neonatal/infantile epilepsy syndrome where seizures start in the neonate between day 4 and 7 of life and are often unilateral clonic events that recur and may alternate sides from seizure to seizure. Seizures can be repetitive over hours to days. Seizures remit by 4-6 months of age. A proportion of those affected may have seizures in later life. The child is expected to have normal developmental progress. This is distinguished from familial neonatal epilepsy on the basis of family history. These entities may have similar genetic etiologies, with de novo mutations responsible for the lack of family history in self-limited neonatal seizures.


description: This syndrome is characterized by Kniest dysplasia, spine abnormalities and severe dwarfism. Glaucoma has also been reported. The syndrome has been described in two unrelated children.


chronic progressive multiple sclerosis

description: A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914)


acquired ataxia

description: A type of ataxia that is acquired during the lifetime of the individual.


name: spastic paraplegia 72b, autosomal recessive


thrombocytopenic purpura

description: Purpura associated with a reduction in circulating blood platelets which can result from a variety of factors.


ulcerative stomatitis

description: Inflammation of the mouth mucosa associated with the presence of ulcers.


parapharyngeal meningioma

description: An ectopic meningioma that arises from the parapharyngeal space.


neonatal myasthenia gravis

description: A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. Clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. This condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. In the majority of infants the myasthenic weakness resolves (i.e., transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., persistent neonatal myasthenia gravis). (From Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4)


drug-induced vasculitis

description: A skin hypersensitivity reaction due to exposure to a pharmacologic substance that is characterized by raised purpuric lesions, red macules, hemorrhagic blisters and ulcerations.


Pitt-Hopkins-like syndrome

description: Pitt-Hopkins-like syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal, or mildly delayed, motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated.


name: mitochondrial complex 1 deficiency, nuclear type 23


name: infective dermatitis associated with HTLV-1

description: A rare and severe chronic disease characterized by recurrent chronic eczema (with erythematous, scaly and crusted lesions) mainly affecting seborrheic areas (e.g. scalp, forehead, eyelids, paranasal and periauricular skin, neck, axillae, and groin), a generalized fine papular rash, chronic nasal discharge with crusting of the anterior nares, and non-virulent Staphylococcus aureus or beta-hemolytic Streptococcus infections, thought to be a result of HTLV-1-induced immunosuppression. Lymphadenopathy, anemia, mild to moderate pruritus and increased incidence of other infections (e.g. crusted scabies) have also been reported in some patients. Patients may subsequently develop other HTLV-1 associated conditions such as adult T-cell leukemia/lymphoma and tropical spastic paraparesis.


name: lissencephaly type 3-metacarpal bone dysplasia syndrome

description: This syndrome is characterized by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. It has been described in two brothers. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and fetal akinesia sequence.


aplasia cutis autosomal recessive

description: Aplasia cutis with autosomal recessive inheritance.


chromosome 1q deletion

description: Chromosome 1q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on thelong arm (q) of chromosome 1. 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 1q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.


malignant melanoma of the mucosa

description: A melanoma (disease) that involves the mucosa.


name: inborn disorder of glutamate/glutamine and aspartate/asparagine metabolism

description: A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of glutamate/glutamine and aspartate/asparagine.


name: malignant vaginal mixed epithelial and mesenchymal neoplasm

description: A malignant neoplasm that arises from the vagina and is characterized by the presence of an epithelial and a mesenchymal component. This category includes adenosarcoma, carcinosarcoma, and malignant mixed tumor resembling synovial sarcoma.


name: alopecia-intellectual disability syndrome 4


name: intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature


kidney leiomyosarcoma

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


name: mitochondrial complex 3 deficiency, nuclear type 11


familial osteodysplasia, Anderson type

description: Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982.


inborn disorder of bile acid synthesis

description: Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis.


name: partial trisomy/tetrasomy of the short arm of chromosome 18


name: opportunistic bacterial infectious disease


name: neurodevelopmental disorder with hypotonia and speech delay, with or without seizures


name: isolated Dandy-Walker malformation without hydrocephalus


white muscle disease

description: A myodegeneration most frequent in calves and lambs whose dams have been fed during gestation or longer on feeds, especially legumes (fabaceae), grown in certain areas where selenium is either deficient or unavailable in the soil. It has been recorded in many countries. It has been produced experimentally in several species of animals on low-selenium intake. A similar myopathy occurs naturally in goats, deer, foals, and dogs but proof of the etiology is lacking. (Merck Veterinary Manual, 5th ed)


pediatric fibrosarcoma

description: A malignant neoplasm arising from the deep soft tissues in children. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.


colorectal cancer, susceptibility to, 3

description: Any colorectal cancer in which the cause of the disease is a mutation in the SMAD7 gene.


name: early-onset autosomal dominant Alzheimer disease

description: A progressive dementia with reduction of cognitive functions. It presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old.


cerebral sarcoidosis

description: Sarcoidosis of the cerebrum.


herpetic whitlow

description: A painful blister of the periungual skin that is caused by herpes simplex virus type 1 or 2.


name: familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis


name: endothelial dystrophy, congenital hereditary, with nail hypoplasia


name: thin ribs-tubular bones-dysmorphism syndrome


name: self-limited familial neonatal-infantile epilepsy

description: An epilepsy syndrome associated with infantile period seizures, complete or nearly-complete seizure remission afterwards, usually good developmental outcome, and dominant transmission with high penetrance in pedigrees. For most affected infants, seizures begin within the first week after term birth. In a minority, however, seizures can begin after the first week but within the first several months of life. At onset, seizures may be highly recurrent, and often feature unilateral tonic limb stiffening that may alternate sides from seizure to seizure, accompanied by cyanosis and autonomic features. Limb shaking movements occur, but not in the evolving rhythmic pattern of tonic-clonic convulsions in older individuals. Neurological examination of the infant is normal between seizures. Although these seizures remit by 4-12 months of age in the majority, 15-30% of those affected have one or more seizure recurrences later, including febrile seizures, focal-onset seizures, and convulsions. Although most affected children show typical development, individuals with mild learning difficulties have been reported in families where the majority develop typically.


name: non-functioning pituitary gland neoplasm

description: A hormone producing or non-producing pituitary gland adenoma or carcinoma, not associated with a hormonal syndrome.


name: ovalocytosis, hereditary hemolytic, with defective erythropoiesis


name: autosomal dominant non-syndromic intellectual disability

description: Autosomal dominant form of non-syndromic intellectual disability.


Sakati-Nyhan syndrome

description: An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections.


ethylene glycol poisoning

description: Ethylene glycol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the production of glycolic acid, glyoxylic acid, and oxalic acid by alcohol dehydrogenase (ADH) in the liver when ethylene glycol is metabolized, characterized initially by euphoria, slurred speech, encephalopathy, coma and seizures, and followed by late manifestations such as tachycardia, arrhythmias, myocardial depression, hemodynamic imbalance and, finally, acute renal failure.


name: peripheral motor neuropathy, childhood-onset, biotin-responsive


name: central hypoventilation syndrome, congenital, 3


name: selective peripheral resistance to thyroid hormone

description: A thyroid hormone resistance syndrome characterized by resistance in peripheral tissues but not in the pituitary.


name: enteropathy, familial, with villous edema and immunoglobulin G2 deficiency


tuberculoma

description: A tumor-like mass resulting from the enlargement of a tuberculous lesion.


name: neurodevelopmental disorder with microcephaly and movement abnormalities


familial ovarian cancer

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


primary amebic meningoencephalitis

description: A infectious disease involving the Naegleria fowleri.


ameloblastoma, dog

description: Ameloblastoma that occurs in dog.


distal trisomy 1p36

description: Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (incl. slopping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported.


congenital renal artery stenosis

description: A narrowing of renal arteries that is present since birth.


name: non-acquired combined pituitary hormone deficiency

description: Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis.


name: proximal myopathy with focal depletion of mitochondria


lathyrism

description: A paralytic condition of the legs caused by ingestion of lathyrogens, especially beta-aminopropionitrile or beta-N-oxalyl amino-L-alanine, which are found in the seeds of plants of the genus lathyrus.


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


description: T-cell immunodeficiency with epidermodysplasia verruciformis is a rare primary immunodeficiency characterized by increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype.


name: acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome

description: This syndrome is characterized by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy.


paratenonitis with tendinosis

description: Paratenonitis associated with intratendinous degeneration.


posterior mediastinum cancer

description: A malignant neoplasm involving the posterior mediastinum.


localized Castleman disease

description: Localized Castleman disease (LCD) is the most common form of Castleman disease (CD) and it is usually asymptomatic or it may present with enlarged lymph nodes. LCD may be cured by surgical resection.


BRCA2-related cancer predisposition

description: Hereditary cancer predisposition due to variation(s) in the BRCA2 gene. Germline pathogenic or likely pathogenic variants in the BRCA2 gene confer an autosomal dominant predisposition to hereditary breast and ovarian cancer. Tumor formation at other sites, including pancreatic and prostate cancer, have been described.


hypocalcemic rickets

description: Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR).


intermediate cell type uveal melanoma

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


immune system organ benign neoplasm

description: A benign neoplasm that involves the immune organ.


autosomal recessive ocular albinism

description: Autosomal recessive form of ocular albinism (disease).


Astroviridae infectious disease

description: Infections with astrovirus, causing gastroenteritis in human infants, calves, lambs, and piglets.


post-viral disorder

description: A post-infectious disorder that follows viral infection but is distinct from the viral infection itself and its usual manifestations.


name: mandibulofacial dysostosis syndrome, Bauru type


sarcoma with BCOR genetic alterations

description: A small cell sarcoma that is characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm and the presence of BCOR genetic alterations.


description: Spinocerebellar ataxia-dysmorphism is marked by characteristic facies associated with dysarthria, delayed psychomotor development, ataxia, scoliosis and foot deformities. Three cases have been described and transmission appears to be autosomal recessive.


Bartter syndrome type 4

description: A form of Bartter syndrome characterized by maternal polyhydramnios, premature delivery, salt loss, polyuria and sensorineural deafness, associated with hypokalemic and hypochloremic metabolic alkalosis, increased levels of plasma renin and aldosterone, and low to normal blood pressure. Urinary calcium excretion rates are variable, and nephrocalcinosis is typically absent.


name: duodenal ulcer due to antral G-cell hyperfunction


hypothalamic neoplasm

description: A primary or metastatic neoplasm that affects the hypothalamus.


name: disorder of carnitine cycle and carnitine transport


name: partial deletion of the long arm of chromosome 20


name: megalencephalic leukoencephalopathy with subcortical cysts 3


impetigo herpetiformis

description: An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy.


name: leukemia, acute myelocytic, with polyposis coli and colon cancer


name: familial idiopathic steroid-resistant nephrotic syndrome with minimal changes


ALS2-related motor neuron disease

description: Any motor neuron disease in which the cause of the disease is a mutation in the ALS2 gene.


maternally-inherited spastic paraplegia

description: A rare, genetic, complex hereditary spastic paraplegia disorder characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination.


name: brachydactyly, intraventricular septal defect, and deafness


name: spastic paraplegia 18a, autosomal dominant


name: X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome


name: spinocerebellar ataxia, autosomal recessive 29


name: congenital hypoplasia of the mitral valve annulus

description: Hypoplasia of the mitral valve annulus is a rare, congenital, mitral valve malformation characterized by hypoplastic annulus which usually appears within a complete mitral valve hypoplasia, causing mitral valve stenosis. Association with other cardiac malformation is common, including coarctation of the aorta, aortic valve stenosis, Shone complex and hypoplastic left heart syndrome.


name: microcephaly, growth retardation, cataract, hearing loss, and unusual appearance


name: dwarfism with stiff joints and ocular abnormalities


cornea cancer

description: A malignant neoplasm involving the cornea.


description: An inflammatory and toxic neuropathy that is characaterized by a collection of neuropsychological symptoms associated with repeated organophosphate pesticide exposure as well as nerve agent exposure. Symptoms can appear weeks after exposure and include muscle weakness, anxiety, depression, psychosis as well as cognitive and memory deficits.


postorgasmic illness syndrome

description: A rare condition in which a man develops flu-like symptoms after ejaculation (when semen is released from the penis). Specific symptoms can include extreme fatigue, weakness, feverishness or sweating, mood changes or irritability, memory or concentration problems, and/or a stuffy nose or itching eyes. Symptoms may occur within seconds, minutes, or a few hours after ejaculation. Most symptoms last for 2 to 7 days and go away on their own. The underlying cause of POIS is poorly understood. Some scientists believe it may be due to a semen allergy that causes an immediate hypersensitivity reaction. There is no standard treatment for POIS, but some men have been treated with SSRIs, antihistamines, and/or benzodiazepines. Hyposensitization therapy (decreasing the immune response by exposure to semen) reportedly improved symptoms in two men with POIS.


thyroid gland angiosarcoma

description: A usually aggressive malignant vascular tumor primarily involving the thyroid gland. It is often associated with longstanding nodular goiter.


autoimmune limbic encephalitis

description: A rare autoimmune encephalitis involving the mesial temporal lobes and clinically characterized by subacute onset (i. e. rapid progression of less than three months) of short-term memory deficits, seizures or psychiatric symptoms, such as behavioral changes, anxiety, depression, and psychosis. Further diagnostic criteria are bilateral abnormalities restricted to the mesial temporal lobes in brain MRI, cerebrospinal fluid pleocytosis and/or epileptic or slow-wave activity involving the temporal lobes in EEG, and reasonable exclusion of alternative causes. Paraneoplastic or non-paraneoplastic antibodies against neuronal antigens may be found in serum and/or cerebrospinal fluid.


name: myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2

description: A group of rare myeloid and lymphoid neoplasms characterized by rearrangement of the PDGFRA, PDGFRB, FGFR1, or JAK2 genes, resulting in the formation of tyrosine kinase fusion transcripts. Eosinophilia is a characteristic finding but it is not always present.


name: Leydig cell hypoplasia due to partial LH resistance


name: generalized basaloid follicular hamartoma syndrome

description: Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported.


name: rippling muscle disease with myasthenia gravis


name: nephrogenic diabetes insipidus-intracranial calcification syndrome

description: This syndrome is characterized by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism.


name: cervical hypertrichosis with underlying kyphoscoliosis


name: congenital myopathy 2b, severe infantile, autosomal recessive


ornithosis

description: Disease caused by the Chlamydophila psittaci bacteria, usually transmitted from birds to humans.


brachydactylous dwarfism, Mseleni type

description: Mseleni joint disease (MJD) is a rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short staure and brachydactyly have been reported in a few patients with MJD.


name: multiple mitochondrial dysfunctions syndrome 7


hereditary peripheral neuropathy

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


name: chromosomal instability with tissue-specific radiosensitivity


substance dependence

description: The psychological or physiological need to take a substance in order to experience its effects or to avoid the effects of its absence.


ciliary body epithelioid cell melanoma

description: A epithelioid cell melanoma that involves the ciliary body.


name: metaphyseal chondrodysplasia, Kaitila type

description: Metaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982.


denture stomatitis

description: Inflammation of the mouth due to denture irritation.


carcinosarcoma of the corpus uteri

description: An aggressive malignant mixed epithelial and mesenchymal tumor that arises from the uterine corpus. It usually affects elderly postmenopausal women and presents with vaginal bleeding. It is characterized by the presence of a malignant epithelial component that is usually glandular and a sarcomatous component.


chronic maxillary sinusitis

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


cervical benign neoplasm

description: A non-metastasizing neoplasm that arises from the cervix. Representative examples include squamous papilloma, endocervical polyp, and rhabdomyoma.


disorder of lacrimal gland

description: A disease that involves the lacrimal gland.


name: deafness-epiphyseal dysplasia-short stature syndrome

description: This syndrome is characterized by sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit).


ulnar nerve lesion

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


name: antenatal multiminicore disease with arthrogryposis multiplex congenita


ectopic aldosterone-producing tumor

description: Ectopic aldosterone-producing tumor is an extremely rare aldosterone-producing neoplasm composed of aberrant adrenocortical tissue located outside the adrenal glands (e.g. in retroperitoneum, perirenal or periaortic fatty tissue, thorax, spinal canal, testes, ovaries) typically characterized by symptoms related to increased aldosterone levels (such as sustained, treatment-resistant hypertension and hypokalemia) or symptoms caused by local tumor enlargement.


T2-high asthma

description: A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of early-onset allergic asthma, late-onset eosinophilic asthma, and aspirin-exacerbated respiratory disease.


monophasic synovial sarcoma

description: A synovial sarcoma characterized by the presence of an epithelial or a spindle cell component only.


rhabdomyosarcoma of the cervix uteri

description: A rare malignant neoplasm with skeletal muscle differentiation arising from the cervix.


latent tuberculosis infection

description: Mycobacterium tuberculosis infection that does not induce infectious expression of the disease in the affected person, although it can cause continuous immune response generated towards TB antigens; person having LTBI are asymptomatic and acting as a reservoir of active tuberculosis tuberculosis cases and Mycobacterium tuberculosis and run a 5-10% risk of reactivating tuberculosis throughout their lives.


familial monosomy 7 syndrome

description: A rare neoplastic disease characterized by infantile to childhood onset of evidence of bone marrow insufficiency/failure associated with increased risk for myelodysplastic syndrome or acute myeloid leukemia. Most patients present with petechiae, easy bruising, or anemia. Rapid progression is common, and prognosis is generally poor.


vascular hemostatic disease

description: Pathological processes involving the integrity of blood circulation. Hemostasis depends on the integrity of blood vessels, blood fluidity, and blood coagulation. Majority of the hemostatic disorders are caused by disruption of the normal interaction between the vascular endothelium, the plasma proteins (including blood coagulation factors), and platelets.


alpha-gal syndrome

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


distal chromosome 18q deletion syndrome

description: Distal chromosome 18q deletion syndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material at the end of the long arm (q) of chromosome 18.


name: familial isolated hypoparathyroidism due to impaired PTH secretion


audiogenic seizures

description: Audiogenic seizures is a rare neurologic disease characterized by seizures that are triggered by acoustic stimulation, which can be simple (as in startle epilepsy) or complex (e.g. musicogenic seizures, seizures triggered by the voice).


name: generalized resistance to thyroid hormone

description: A thyroid hormone resistance syndrome characterized by resistance in the pituitary gland and in most or all of the peripheral tissues.


name: acute myeloid leukemia, PTPN11 gene mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly PTPN11 gene mutation. (Mutation of the protein tyrosine phosphatase, non-receptor type 11 gene. It is seen in cases of juvenile myelomonocytic leukemia.)


cardiac glycoside intoxication

description: A poisoning that is caused by exposure to cardiac glycoside.


acute zonal occult outer retinopathy

description: Acute zonal occult outer retinopathy (AZOOR) is a rare condition that affects the eyes. People with this condition may experience a sudden onset of photopsia (the presence of perceived flashes of light) and an area of partial vision loss (a blindspot). Other symptoms may include 'whitening of vision' or blurred vision. Although anyone can be affected, the condition is most commonly diagnosed in young women (average age 36.7 years). The underlying cause of AZOOR is currently unknown; however, some researchers have proposed that infectious agents (such as viruses) or autoimmunity may play a role in the development of the condition. No treatment has been proven to improve the visual outcome of AZOOR; however, systemic corticosteroids are the most commonly used therapy.


name: lymphoma, Hodgkin, X-linked pseudoautosomal


infective arthritis

description: The inflammation of one or more joints caused by any infectious pathogen within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint.


neurocristopathy

description: That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage.


polyp of maxillary sinus

description: A polyp that involves the maxillary sinus.


name: secondary hyperparathyroidism of renal origin


Fusobacterium infectious disease

description: Infections with bacteria of the genus fusobacterium.


name: immune dysregulation, autoimmunity, and autoinflammation


name: adducted thumbs-arthrogryposis syndrome, Christian type

description: A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism ("myopathic" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983.


name: mitochondrial complex 1 deficiency, nuclear type 15


Zika virus infectious disease

description: Mosquito-born virus disease characterized by a clinical course that may be asymptomatic or mild with fever, conjunctivitis, muscle and joint pain, headache, exanthema, but may also be associated with severe neurological (meningitis, meningoencephalitis and myelitis) and auto-immune (Guillain-Barre syndrome) complications, as well as a potential increase of birth defects (microcephaly) if the infection occurs during pregnancy.


fire ant poisoning

description: A poisoning that is caused by exposure to a fire ant bite or sting. Fire ants tend to be an aggressive insect that will sting causing very painful reactions. There are two types of fire ants which belong to the Solenopsis species.


candidal paronychia

description: A candidiasis that results in fungal infection of the outer-most layer located in nail, has material basis in Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury.


name: serous or mucinous cystadenoma of childhood

description: Serous or mucinous cystadenoma of childhood is a benign epithelial ovarian tumor characterized by a usually unilateral, cystic, unilocular or multilocular lesion with a thin wall or septa and no intracystic solid portion on imaging. It often presents with abdominal pain or an asymptomatic abdominal mass and can be associated with ovarian torsion or malignant transformation.


name: chronic mucocutaneous candidiasis due to monocyte chemotactic disorder


Proteus infectious disease

description: Infections with bacteria of the genus proteus.


epididymis disease

description: A male reproductive system disease that is located in the epididymis.


Boudhina Yedes Khiari syndrome

description: Familial syndrome combining short stature, microcephaly, mental deficiency, seizures, hearing loss, and skin lesions


chaotic conus spinal cord lipoma

description: A rare dysraphic spinal cord lipoma characterized by the lipomatous mass extending ventrally to the dorsal root entry zone, indicating a more severe malformation of the spinal cord. The diagnosis can be suggested on imaging but usually confirmed during surgery.


klumpke's paralysis

description: Klumpke paralysis is a type of brachial palsy in newborns. Signs and symptoms include weakness and loss of movement of the arm and hand. Some babies experience drooping of the eyelid on the opposite side of the face as well. This symptom may also be referred to as Horner syndrome. Klumpke paralysis is caused by an injury to the nerves of the brachial plexus which may result from a difficult delivery. This injury can cause a stretching (neuropraxia), tearing (called avulsion when the tear is at the spine, and rupture when it is not), or scarring (neuroma) of the brachial plexus nerves. Most infants with Klumpke paralysis have the more mild form of injury (neuropraxia) and often recover within 6 months.


name: SOX3-related X-linked pituitary hormone deficiency with or without intellectual developmental disorder

description: An X-linked syndromic intellectual disability caused by alterations to the SOX3 gene which leads to hypopituitarism with variable deficiency of hormones in the anterior lobe of the pituitary gland. In some cases there is also intellectual disability.


name: ulnar agenesis and endocardial fibroelastosis


inherited acute myeloid leukemia

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


name: combined oxidative phosphorylation deficiency 59


autoimmune neuropathy

description: An autoimmune form of peripheral neuropathy.


proliferative fasciitis

description: A rapidly growing, poorly circumscribed, mass-forming proliferation that arises from the subcutaneous tissues. It is characterized by the presence of spindle-shaped fibroblasts, round ganglion-like cells, myxoid to collagenous stroma formation, and high mitotic activity. It recurs only rarely following local excision and does not metastasize.


name: neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia


name: hemolytic disease of the newborn with Kell alloimmunization


PDE6A-related retinopathy

description: Any retinopathy caused by variants in the PDE6A gene.


eccrine sweat gland neoplasm

description: A neoplasm involving a eccrine sweat gland.