congenital structural myopathy

A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills.


Bangstad syndrome

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Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989.


Borrelia infectious disease

Infections with bacteria of the genus borrelia.


autosomal dominant nonsyndromic hearing loss 40

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


lymphoplasmacytic lymphoma without IgM production


X-linked cone-rod dystrophy

X-linked form of cone-rod dystrophy.


short stature-advanced bone age-early-onset osteoarthritis syndrome


inverted follicular keratosis

Seborrheic keratosis that arises from follicular structures in the skin. It presents as a solitary nodule in the skin and is characterized by the presence of prominent squamous eddies.


alacrima, congenital, autosomal dominant


congenital panfollicular nevus

Congenital panfollicular nevus is a rare, benign, skin tumor disorder characterized by the presence of congenital, large (few centimeters), elevated, well-circumscribed, pink-tan, multinodular, non-ulcerative, bosselated-surface skin lesions located on the neck, scalp or hand and which enlarge with time. Histologically, hamartomatous proliferation containing irregularly arranged, malformed hair follicles in various stages of development, surrounded by fibrous tissue and densely distributed within the dermis is observed.


pontocerebellar hypoplasia type 1

Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death.


congenital pulmonary airway malformation type 3


cholesterol metabolism disease

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


atrioventricular septal defect 5

Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA6 gene.


anterior segment dysgenesis 3

An iridogoniodysgenesis that results from alterations in the forkhead transcription factor gene (FOXC1)


early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome

Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis.


neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy


glycogen storage disease VII

Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood.


maternal uniparental disomy of chromosome 2

Maternal uniparental disomy of chromosome 2 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.


giant cell reparative granuloma

A rare tumor-like lesion of the hands and feet characterized by the presence of hemorrhagic fibrous tissue, hemosiderin deposition, osteoclast-like giant cells which are irregularly distributed, and reactive bone formation. Pain and swelling are the most frequent symptoms. It may recur following curettage, but is usually cured after a second procedure.


neurological muscular channelopathy due to a genetic ryanodine receptor defect


Dressler syndrome

A pericarditis characterized by inflammation, occurring after injury, located in pericardium.


holoprosencephaly 3

Any holoprosencephaly in which the cause of the disease is a mutation in the SHH gene.


congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency

A very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension.


exudative vitreoretinopathy 1

An autosomal dominant condition caused by mutation(s) in the FZD4 gene, encoding frizzled-4. It is characterized by a variable phenotype resulting from incomplete development of the retinal vasculature. Mutation(s) in the FZD4 gene, also cause a form of retinopathy of prematurity.


verbal auditory agnosia

An agnosia that is a loss of the ability to recognizing spoken words as semantically meaningful.


microphthalmia, syndromic 12

Syndromic microphthalmia-12 is a rare disease characterized by bilateral small eyeballs (microphthalmia), lungs that are too small (pulmonary hypoplasia), and a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity (diaphragmatic hernia). Other symptoms may include: Severe global developmental delay with progressive motor impairment due to spasticity and/or uncontrolled repetitive muscular contractions (dystonia), with or without abnormal quick movements that resemble dancing (chorea), Defects of the cerebellum (Chiari type I malformation) Accumulation of cerebrospinal fluid inside the brain (hydrocephaly), Severe feeding difficulties, Mild facial dysmorphism with broad nasal root and tip, and a very small chin (micrognathia), Severe language delay, Wheelchair-bound. Syndromic microphthalmia-12 is caused by mutations in the RARB gene. There is no specific treatment for this syndrome.


autosomal dominant striatal neurodegeneration type 1

Autosomal dominant striatal degeneration is a neurologic disorder characterized by variable movement abnormalities due to dysfunction in the striatal part of the basal ganglia.


Bartonellaceae infectious disease

Infections with bacteria of the family bartonellaceae.


non-syndromic respiratory or mediastinal malformation

A respiratory or mediastinal malformation that is not part of a larger syndrome.


PRPS1 deficiency disorder

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


pleomorphic lipoma

A benign circumscribed tumor characterized by small spindle cells, rounded hyperchromatic cells and multinucleated giant cells with radially arranged nuclei.


rubella

A viral infection caused by the rubella virus. It is initially manifested with flu-like symptoms that last one or two days, followed by the development of a characteristic red rash which lasts from one to five days. The rash first appears in the neck and face. It subsequently spreads to the rest of the body.


uterine ligament adenosarcoma

An extremely rare adenosarcoma that arises from the uterine ligament.


asphyxiating thoracic dystrophy 4

An asphyxiating thoracic dystrophy has material basis in compound heterozygous mutation in the TTC21B gene on chromosome 2q24.


microcephalic osteodysplastic primordial dwarfism, type 3


autosomal dominant hypohidrotic ectodermal dysplasia

Autosomal dominant form of hypohidrotic ectodermal dysplasia.


maternal uniparental disomy of chromosome 21


GM1 gangliosidosis type 2

GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis characterized by normal early development and psychomotor regression between seven months and three years of age.


periodontitis, aggressive 1

A localized aggressive periodontitis, formerly called localized juvenile periodontitis. It is a destructive form of periodontitis characterized by ALVEOLAR BONE LOSS of the MOLARS and INCISORS. Inflammation and loss of PERIODONTIUM that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as DENTAL PLAQUE and DENTAL CALCULUS. This highly destructive form of periodontitis often occurs in young people and was called early-onset periodontitis, but this disease also appears in old people.


intellectual disability, X-linked 105

Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP27X gene.


T-cell prolymphocytic leukemia

A slow-growing type of leukemia (blood cancer) in which too many lymphocytes are found in the bone marrow and/or blood. The T-cell is specified as the defective cell line.


gram-positive bacterial infections

Infections caused by bacteria that retain the crystal violet stain (positive) when treated by the gram-staining method.


partial deletion of the short arm of chromosome 5


osteogenesis imperfecta and a reduction of bone mineral density.

A skeletal dysplasia characterized by osteogenesis imperfecta and decreased bone density.


vascular neoplasm

A benign, intermediate, or malignant neoplasm arising from vascular tissue including arteries, veins, venous sinuses, lymphatic vessels, arterioles and capillaries. It may occur in essentially any body location and is characterized by the presence of vascular channel formation and endothelial cells.


partial duplication of the long arm of chromosome 22


DOORS syndrome

DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Isolated seizure disorders and isolated hearing loss have also been reported in individuals as a proposed spectrum of DOORS syndrome.


RCBTB1-related retinopathy

An autosomal recessive condition caused by mutation(s) in the RCBTB1 gene, encoding RCC1 and BTB domain-containing protein 1. It is characterized by severe retinal dystrophy. Associated extraocular abnormalities may or may not be present.


agammaglobulinemia 9, autosomal recessive

An autosomal recessive primary immunodeficiency characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells. Additional features include failure to thrive and skin involvement. The severity is variable: more severe cases may require hematopoietic stem cell transplantation, whereas others can be treated effectively with Ig replacement therapy.


Gaucher disease perinatal lethal

Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD).


craniosynostosis exostoses nevus epibulbar dermoid


autism spectrum disorder - epilepsy - arthrogryposis syndrome

SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21).


congenital generalized lipodystrophy type 4

Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAVIN1 gene.


autoinflammatory syndrome, familial, Behcet-like 1


Charcot-Marie-Tooth disease dominant intermediate F

Autosomal dominant intermediate Charcot-Marie-Tooth disease type F is a rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range.


acute myeloid leukemia, t(v;11q23.3)

Any acute myeloid leukemia that has the chromosomal anomaly t(v;11q23.3). (A chromosomal abnormality consisting of the translocation of genetic material from any one of several chromosomes to the 11q23.3 region, resulting in an MLL gene rearrangement.)


familial cystic renal disease

An instance of cystic kidney disease that is caused by an inherited modification of the individual's genome.


frontotemporal dementia and/or amyotrophic lateral sclerosis 4

An amyotrophic lateral sclerosis that has material basis in mutation in the TBK1 gene on chromosome 12q14.


benign mesothelioma

A benign proliferative neoplasm made up of epithelial and mesenchymal cells of the mesothelium which make up part of the serosal covering and lining of various organ surfaces within the body.


high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement


familial multiple lipomatosis

Familial multiple lipomatosis is a rare, benign, genetic skin disease characterized by numerous, painless, encapsulated lipomas located in the subcutaneous adipose tissue of the trunk and extremities, with relative sparing of the neck and shoulders. Association with gastroduodenal lipomatosis, brain anomalies or lipomatosis, and refractory epilepsy has been reported.


inborn disorder of proline metabolism

An inherited metabolic disease that is has its basis in the disruption of proline metabolic process.


factitious disorder

A category of psychiatric disorders which are characterized by physical or psychological symptoms that are intentionally produced in order to assume the sick role; there is no external incentive for the behavior, such as economic gain or avoiding legal responsibility, and the person is unaware of any self-motivating factors.


14q11.2 microduplication syndrome

14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate.


melanomatosis

A condition characterized by multiple melanomas.


Togaviridae infectious disease

Virus diseases caused by the togaviridae.


partial trisomy/tetrasomy of the short arm of chromosome 5


isolated diffuse palmoplantar keratoderma

A diffuse palmoplantar keratoderma that is not part of a larger syndrome.


idiopathic juvenile osteoporosis

Idiopathic juvenile osteoporosis (IJO) is a primary condition of bone demineralization childhood or adolescence that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis. Onset usually occurs in the prepubertal period, between 8 and 12 years of age.


night blindness, congenital stationary, type1i


nodular non-suppurative panniculitis

Nodular non-suppurative panniculitis, known as Weber-Christian disease (WCD), is a rare skin disorder characterized by recurring inflammation in the subcutaneous layer of fat.


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4

Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the POLG2 gene.


autoimmune atherosclerosis

An autoimmune form of atherosclerosis.


chromosome 1q21.1 deletion syndrome

1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.


amelanotic skin melanoma

A amelanotic melanoma that involves the zone of skin.


agammaglobulinemia 4, autosomal recessive

Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the BLNK gene.


metabolic myopathy due to lactate transporter defect

Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase.


tremor, hereditary essential, 1

Any essential tremor in which the cause of the disease is a mutation in the DRD3 gene.


congenital muscular dystrophy with cataracts and intellectual disability

A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13.


MEHMO syndrome

MEHMO syndrome is characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localized to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.


congenital myotonic dystrophy

Myotonic dystrophy that is present at birth.


heterotaxy, visceral, 11, autosomal, with male infertility


X-linked distal hereditary motor neuropathy

X-linked form of distal hereditary motor neuropathy.


Bacillaceae infectious disease

Infections with bacteria of the family bacillaceae.


tick-borne infectious disease

Bacterial, viral, or parasitic diseases transmitted to humans and animals by the bite of infected ticks. The families Ixodidae and Argasidae contain many bloodsucking species that are important pests of man and domestic birds and mammals and probably exceed all other arthropods in the number and variety of disease agents they transmit. Many of the tick-borne diseases are zoonotic.


mosaic genome-wide paternal uniparental disomy


A malignant neoplasm of the ovary characterized by the presence of malignant glandular cells resembling endometrial cells in a fibrotic stroma.


spastic paraplegia 85, autosomal recessive


lower respiratory tract disorder

A disease involving the lower respiratory tract.


mosaic trisomy 13

Trisomy 13 in which the presence of an extra copy of chromosome 13 is present only in some of the cells of the organism.


glycogen storage disease XV

Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle.


Dengue hemorrhagic fever

A serious condition caused by Dengue virus infection. Patients present with an acute febrile illness followed by restlessness, irritability, and bleeding. It may lead to hemorrhagic shock and death.


cutaneous leukocytoclastic angiitis

Cutaneous leukocytoclastic angiitis is a small-vessel vasculitis presenting with palpable purpura and urticarial lesions which predate the purpuric lesions most frequently observed on the legs. Systemic symptoms including fever, cough, hemoptysis, sinusitis, arthralgia, arthritis, myalgia, abdominal pain, diarrhea, hematochezia, paresthesia, weakness, and hematuria may be observed. Skin biopsy reveals exudates rich in neutrophils, endothelial damage, fibrin deposition, and leukocytoclasis in postcapillary venules of small vessels. Cutaneous leukocytoclastic angiitis can be idiopathic (in up to 50% of cases) or secondary to infections, medications (such as antituberculosis medication), collagen vascular diseases, or neoplasms.


isolated foveal hypoplasia

A rare macular disorder characterized mostly by a variable degree of decreased visual acuity, jerk or pendular nystagmus, and typical ocular findings at imaging. The disease is usually bilateral. Rarely, nystagmus can be absent. Locally, the disease is characterized by underdeveloped foveal pit, absence of foveal pigmentation and/or foveal avascular zone, and persistence of inner retinal layers at the fovea, in absence of concomitant ocular or systemic pathology.


Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia.


hypercholanemia, familial 1

A very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent.


acute myeloid leukemia, KIT gene mutation

Any acute myeloid leukemia that has the chromosomal anomaly KIT gene mutation. (A molecular genetic abnormality that refers to mutation of the c-kit (CD117) proto-oncogene. It is associated with the development of gastrointestinal stromal tumor and gastrointestinal autonomic nerve tumor. It has also been described in acute myeloid leukemias, dysgerminomas, and seminomas.)


anterior segment dysgenesis 4

Any iridogoniodysgenesis in which the cause of the disease is a mutation in the PITX2 gene.


abnormal origin or aberrant course of coronary artery


spondyloepimetaphyseal dysplasia-abnormal dentition syndrome

A rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features.


extralobar congenital pulmonary sequestration


cone dystrophy, X-linked, with tapetal-like sheen


autosomal dominant keratitis-ichthyosis-hearing loss syndrome

Autosomal dominant form of KID syndrome.


ectopic thymus

A condition in which the thymus gland is abnomally located; this can be secondary to failure of descent during fetal development, or failure of involution.


auriculocondylar syndrome 1

Any auriculocondylar syndrome in which the cause of the disease is a mutation in the GNAI3 gene.


severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome

Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy).


childhood leukemia

An acute or chronic leukemia that occurs during childhood.


porphyrin metabolism disease

A disease that has its basis in the disruption of porphyrin-containing compound metabolic process.


familial hyperlipidemia

An instance of hyperlipidemia (disease) that is caused by an inherited modification of the individual's genome.


atypical hemolytic-uremic syndrome with B factor anomaly


Coffin-Siris syndrome 1

Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1B gene.


HELIOS deficiency

A non-severe combined immunodeficiency caused by a loss-of-function variation in the IKZF2 gene that is characterized by recurrent upper respiratory infections, thrush and mucosal ulcers, and chronic lymphadenopathy.


localized scleroderma

Localized scleroderma is the skin localized form of scleroderma characterized by fibrosis of the skin causing cutaneous plaques or strips.


orbit neoplasm

A benign or malignant neoplasm that affects the orbit.


multiple epiphyseal dysplasia due to collagen 9 anomaly

Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported.


focal segmental glomerulosclerosis 2

Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the TRPC6 gene.


inborn disorder of ketolysis

An inherited metabolic disease that is has its basis in the disruption of ketone body catabolic process.


bilateral meningioma of optic nerve

Meningiomas that affects both optic nerves.


autosomal recessive osteopetrosis 2

Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFSF11 gene.


congenital eyelid retraction

Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips.


mixed endometrial stromal and smooth muscle tumor

A benign or malignant mesenchymal neoplasm of the uterine corpus. Representative examples include leiomyoma, leiomyosarcoma, and endometrial stromal sarcoma.


cellular leiomyoma

A morphologic variant of classic leiomyoma characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern.


disorder of fatty acid and ketone body metabolism


prion disease

A transmissible disease that is caused by a protein that is able to induce abnormal folding of normal cellular proteins, leading to characteristic spongiform brain changes, which are associated with neuronal loss without an inflammatory response. Such disorders have typically long incubation periods, but are then generally rapidly progressive and are uniformly fatal.


malignant conjunctival melanoma

A malignant melanoma within the conjunctiva of the eye.


refractory cytopenia of childhood

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


familial severe combined immunodeficiency


ulcer of lower limbs

Ulcer of lower limbs is a chronic ulcer of skin where the ulcer is not a decubitus ulcer.


primary orthostatic tremor

Primary orthostatic tremor (POT), or ``shaky legs syndrome'', is a rare movement disorder characterized by fast, task-specific tremor, affecting the legs and trunk while standing.


Joubert syndrome 14

Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM237 gene.


pituitary hormone deficiency secondary to storage disease


myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies


Thomas syndrome

Thomas syndrome is characterized by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive.


congenital anomaly of ventricular septum

A congenital heart malformation that involves the interventricular septum.


congenital disorder of glycosylation, type IIr


idiopathic macular telangiectasia type 1

A rare, acquired, eye disease characterized by unilateral (rarely bilateral) abnormally dilated and tortuous capillaries around the fovea, associated with multiple arteriolar and venular aneurysms, lipid depositions, and intra-retinal cystoid degeneration. It leads to vision loss due to macular edema with hard exudates.


acquired secondary polycythemia

An instance of secondary polycythemia that is acquired during the lifetime of the individual.


myoclonus, familial

A rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most of cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent.


anomaly of puberty or/and menstrual cycle


A rare genetic cerebral small vessel disease characterized by an adult-onset primary microangiopathy with severe atherosclerosis of arterioles and secondary leukoencephalopathy. Patients may present with migraine, transient ischemic attacks, stroke with central facial palsy, cognitive dysfunction with impaired concentration, dementia, depression, movement disorder, vertigo, dysphagia, dysarthria, sicca syndrome, impaired REM sleep, and therapy-resistant hypertension, among others. Brain MRI typically shows a leukoencephalopathy that is disproportionately severe and extensive compared to the clinical disease.


nervous system injury

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


isolated growth hormone deficiency type II


endocrine gland neoplasm

A benign or malignant neoplasm arising from the epithelial cells of an endocrine organ. Representative examples include pituitary gland adenoma, pituitary gland carcinoma, thyroid gland carcinoma, carcinoid tumor, and neuroendocrine carcinoma.


parasitemia

The presence of parasites (especially malarial parasites) in the blood. (Dorland, 27th ed)


ataxia with oculomotor apraxia type 3

An autosomal recessive cerebellar ataxia caused by mutation(s) in the PIK3R5 gene, encoding phosphoinositide 3-kinase regulatory subunit 5. It is characterized by oculomotor apraxia and distal muscle atrophy and weakness, predominantly affecting the lower limbs.


muscular dystrophy, progressive Pectorodorsal


A rare primary lymphedema characterized by extensive, multisegmental lymphedema, associated with persistent, widespread infections with various genital high- and low-risk human papillomaviruses, resulting in multifocal anogenital dysplasia. Laboratory examination shows abnormalities in lymphocyte subsets, in particular CD4+ T-cells. Epidermal nevi and capillary malformations have also been reported.


polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1


opportunistic systemic mycosis

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


Coffin-Siris syndrome 5

Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCE1 gene.


benign neoplasm of nasal cavity

A benign neoplasm that involves the nasal cavity.


pseudotyphus of California

Pseudotyphus of California is a rare, flea-borne Rickettsial disease caused by a Rickettsia felis infection. Patients can be asymptomatic or can present with unspecific symptoms (such as fever, headache, generalized maculopapular rash, myalgia, arthralgia and, ocasionally, eschar. lymphadenopathy, nausea, vomiting, loss of appetite and abdominal pain. Rarely, serious manifestations may occur and include neurological dysfunction (photophobia, hearing loss, and signs of meningitis) and pulmonary compromise.


autosomal recessive nonsyndromic hearing loss 46

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 18p11.32-p11.31.


syndromic hyperopia

A hyperopia that is part of a larger syndrome.


DYRK1A-related intellectual disability syndrome

An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13.


hyper-IgM syndrome type 5

Any hyper-IgM syndrome in which the cause of the disease is a mutation in the UNG gene.


moderately severe hemophilia B

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


obesity due to leptin receptor gene deficiency

Deficiency or dysfunction of the leptin receptor associated with loss-of-function mutation(s) in the LEPR gene.


chromosome 6pter-p24 deletion syndrome

Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.


PANDAS

PANDAS is an acronym for Pediatric Autoimmune Neuropsychiatric Disorders Associated with a group A beta-hemolytic Streptococcal infection and applied to a subgroup of children with obsessive-compulsive disorder (OCD) and/or tic disorders.


immunodeficiency 102

An X-linked recessive immunologic disorder characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias. Affected individuals have bacterial, viral, and fungal infections, as well as hemolytic anemia, thrombocytopenia, lymphopenia, and decreased NK cells. Laboratory studies show defective T-cell proliferation and function, likely due to signaling abnormalities. The disorder may also manifest as a hyperinflammatory state with immune dysregulation.


tumoral calcinosis, hyperphosphatemic, familial, 3


immunodeficiency 88

An autosomal recessive immune disorder characterized specifically by the development of disseminated mycobacterial disease following vaccination with BCG. The single patient described did not develop other clinical infectious diseases, although serology documented exposure to various viruses and bacteria. Immunologic workup shows defective development of certain innate immunologic cells and decreased production of gamma-interferon (IFNG). Additional manifestations include persistent reactive airway disease associated with increased production of Th2 cytokines.


spondylocostal dysostosis

Spondylocostal dysplasia is a rare genetic disorder characterized by defects of the bones of the spine (vertebrae) and abnormalities of the ribs. Ribs can be fused or missing in chaotic patterns. These malformations are present at birth (congenital).


intellectual developmental disorder, X-linked 108


premalignant hematological system disease

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


Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type


light and heavy chain deposition disease

A rare sub-type of monoclonal immunoglobulin deposition disease in which heavy and light chains deposition results in non-amyloid tissue deposits which may cause organ dysfunction


CACNA1A-related complex neurodevelopmental disorder

A progressive complex neurodevelopmental condition caused by variants in the CACNA1A gene. Phenotypic onset (usually) occurs around age 1 and most often includes intellectual disability but can also include epileptic encephalopathy, benign paroxysmal torticollis of infancy and paroxysmal tonic upgaze psychomotor delay, learning difficulties, absence epilepsy, episodic ataxia, and hemiplegic migraines.


agammaglobulinemia 8, autosomal dominant

Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the TCF3 gene.


X-linked endothelial corneal dystrophy

X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients.


eye lymphoma

A lymphoma that involves the eye.


Prader-Willi-like syndrome

Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) ocurring in the absence of 15q11-q13 genomic abnormalities.


Alzheimer disease 14

An Alzheimer's disease that is characterized by an associated with variation in the region 1q25.


isolated focal cortical dysplasia type IIa


patterned macular dystrophy

A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped.


otopalatodigital syndrome

A form of frontootopalatodigital syndrome, characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders.


retinitis pigmentosa 24

A retinitis pigmentosa that has material basis in variation in the chromosome region Xq26-q27.


amyotrophic lateral sclerosis type 1

An inherited form of amyotrophic lateral sclerosis, usually inherited in an autosomal dominant pattern, caused by mutation(s) in the SOD1 gene, encoding superoxide dismutase.


spastic paraplegia 87, autosomal recessive


panniculitis and localized lipodystrophy


hypertrophic osteoarthropathy, primary, autosomal recessive, 2

Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the SLCO2A1 gene.


paternal 20q13.2q13.3 microdeletion syndrome

Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism.


chronic laryngitis

Persistent laryngitis usually caused by smoking, heavy alcohol consumption, voice abuse, or gastroesophageal reflux disease. It results in hoarseness and other voice changes.


nephrotic syndrome, type 10

Any nephrotic syndrome in which the cause of the disease is a mutation in the EMP2 gene.


ichthyosis, annular epidermolytic 1

Any annular epidermolytic ichthiosis in which the cause of the disease is a variation in the KRT10 gene.


infantile-onset epilepsy

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


premenopausal osteoporosis

Osteoporosis occuring in premenopausal women with existing fragility fractures, diseases or treatments known to cause bone loss or fractures.


salmonella discitis

Discitis caused by infection with Salmonella.


Cryoglobulinemic vasculitis

Mixed cryoglobulinemia (MC) is a rare multisystem disease characterized by the presence of circulating cryoprecipitable immune complexes in the serum, manifested clinically by a classical triad of purpura, weakness and arthralgia.


fetal trimethadione syndrome

Fetal trimethadione syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to trimethadione and that is characterized by pre- and post-natal growth retardation, intellectual deficit, developmental and speech delay, craniofacial anomalies (with some similarities to those seen in fetal valproate syndrome), and less commonly, cleft palate, malformations of the heart, urogenital system and limbs. Trimethadione is an antiepileptic drug that has been removed from the market in Europe and is no longer used much in other countries due to teratogenicity and potential side effects.


glycerol kinase deficiency, juvenile form

Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness.


autoimmune hemolytic anemia, cold type

Cold autoimmune hemolytic anemia comprises two types of autoimmune hemolytic anemia (AIHA) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30B0C): cold agglutinin disease (CAD), which is the more common, and paroxysmal cold hemoglobinuria (PCH).


T cell and NK cell immunodeficiency

A primary immunodeficiency disease that involves multiple components of the immune system, including both T cell and NK cell immunodeficiency.


distomatosis

Distomatosis is a group of parasitoses caused by flat worms that live in contact with epitheliums. Clinical classification depends on the organ infected by the adult parasite: liver, lungs, or intestines.


Charcot-Marie-Tooth disease type 1F

A form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the NEFL gene (8p21.2)..


vascular occlusion disorder

A disorder characterized by occlusion of blood vessels. It differs from thrombosis in that it can be used to describe any form of blockage, not just one formed by a clot.


idiopathic localized lipodystrophy

Idiopathic localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by asymptomatic, well-demarcated, depressed, lipoatrophic lesions of variable size, with normal overlying skin without antecedent inflammation or a known identifiable cause (autoimmune disease, drug injection, injury, etc).


dermatosis papulosa nigra

A benign skin condition commonly seen in dark-skinned individuals that is characterized by multiple small hyperpigmented papular lesions resembling seborrheic keratosis on the face and upper body.


cutaneous fibrous histiocytoma

A benign, intermediate, or malignant mesenchymal neoplasm composed of fibrohistiocytic cells, spindle fibroblastic cells, and histiocytes, in a storiform pattern.


subglottis neoplasm

A benign or malignant neoplasm that affects the subglottic area of the larynx.


hallucinogen dependence

A drug dependence for a hallucinogenic substance.


pulp degeneration

Deterioration of the normal pulp tissue.


demyelinating hereditary motor and sensory neuropathy


severe combined immunodeficiency due to LAT deficiency


PERCHING syndrome

Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the KLHL7 gene.


adult cerebellar neoplasm

A cerebellar neoplasm that occurs in an adult.


Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis.


spondyloepimetaphyseal dysplasia, PAPSS2 type

A spondyloepimetaphyseal dysplasia characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.


spinocerebellar ataxia, autosomal recessive 32


familial median cleft of the upper and lower lips

Familial median cleft of the upper and lower lips is a rare and isolated orofacial defect characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family.


polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis


congenital muscular dystrophy without intellectual disability


neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly


mitochondrial complex 1 deficiency, nuclear type 30


Cornelia de Lange syndrome 1

Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the NIPBL gene.


deafness dystonia syndrome

An X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards.


pontocerebellar hypoplasia type 3

Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3.


LAMA5-related multisystemic syndrome

A rare genetic systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome, and hypothyroidism. The phenotype has been reported to be more severe in women than in men. This is an n-of-1 use case where only one patient or family has been described with this disorder.


dementia pugilistica

Conditions characterized by persistent brain damage or dysfunction as sequelae of cranial trauma. This disorder may result from diffuse axonal injury; intracranial hemorrhages; brain edema; and other conditions. Clinical features may include dementia; focal neurologic deficits; persistent vegetative state; akinetic mutism; or coma.


factor XI deficiency

A coagulation disorder characterized by the partial or complete absence of factor XI activity in the blood.


Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/wooly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although wooly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent.


panic disorder with agoraphobia

A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is a component of this disorder.


ring chromosome 10

Ring chromosome 10 syndrome is characterized by intellectual deficit, growth retardation, and various dysmorphic features. Less than 20 cases have been described. The main features are low birth weight, microcephaly, stubby nose with a prominent nasal bridge, hypertelorism, strabismus, wide-set nipples, single transverse palmar creases, and clinodactyly. Boys have undescended testes and hypoplastic scrotum. Congenital heart disease, hydronephrosis or renal hypoplasia was present in some of the cases.


microcephaly and chorioretinopathy 3

Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the TUBGCP4 gene.


intellectual disability, autosomal dominant 43

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the HIVEP2 gene.


primary oculocerebral lymphoma

Primary oculocerebral lymphoma is a rare, primary, organ-specific, extranodal non-Hodgkin's lymphoma (typically diffuse large B-cell lymphoma), simultaneously affecting the intraocular compartments (retina, vitreous, optic nerve, uvea and others) and the central nervous system (commonly the cerebellum, spinal cord or pia mater). The presenting symptoms vary depending on the localization of the tumor and may include vitreous floaters or blurred vision, raised intracranial pressure (headache, vomiting, papilledema) and/or focal neurological deficits.


iron metabolism disease

Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization.


Strongylida infectious disease

Infections with nematodes of the order strongylida.


intermittent explosive disorder

A disorder characterized by recurrent episodes of serious assaultive acts or destruction of property due to a failure to resist aggressive impulses; the degree of aggression during these episodes is grossly out of proportion to any psychosocial provocation. The aggressive episodes are not etiologically linked to another mental disorder, a general medical condition, or substance use.


X-linked syndromic intellectual disability

A syndromic intellectual disability with an X-linked mode of inheritance.


complement component 7 deficiency

Any classic complement early component deficiency in which the cause of the disease is a mutation in the C7 gene.


AH amyloidosis

A rare type of amyloidosis characterized by the monoclonal deposition of immunoglobulin heavy chain fragments in organs and tissues. It is associated with plasma cell or B-cell lymphoproliferative disorders.


nutritional disorder, non-human animal

Nutritional disorder that occurs in non-human animals.


microcephaly 5, primary, autosomal recessive

Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the ASPM gene.


dopa-responsive dystonia

Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency.


childhood acute myeloid leukemia

Acute myeloid leukemia occurring in childhood.


scleredema adultorum

A usually benign and self-limited skin disorder of unknown etiology, characterized by induration of the skin. It may be associated with infection, diabetes mellitus, and hematologic malignancies. Morphologically, there is deposition of mucin in the dermis.


autoinflammatory disease, systemic, with vasculitis


Kerion celsi

A rare inflammatory and suppurating type of tinea capitis, a skin infection caused by Trichophyton or Microsporum fungi, that predominantly affects the scalp and that is characterized by the development of painful crusty lesions covered with follicular pustules and surrounded by erythematous alopecic areas, that can later evolve into abscesses and leave permanent cicatricial alopecia. Lesions can be associated with regional lymphadenopathy.


combined immunodeficiency due to POLE2 deficiency

Any combined immunodeficiency due to a deficiency in the POLE2 gene.


Oguchi disease-1

Any Oguchi disease in which the cause of the disease is a mutation in the SAG gene.


primary focal segmental glomerulosclerosis

A form of focal segmental glomerulosclerosis without identifiable etiology. Primary (idiopathic) FSGS has been associated with the presence of circulating permeability factors/cytokines, which cause foot process effacement and proteinuria.


lead poisoning

5 ug/dL) is reported to lead to irreversible effects such as loss of cognition, shortening of attention span, alteration of behavior, dyslexia, attention deficit disorder, hypertension, renal impairment, immunotoxicity and toxicity to the reproductive organs.


paraquat poisoning

Paraquat poisoning is a rare intoxication with paraquat (a non-selective bipyridilium herbicide that has been banned in Europe), usually occurring through ingestion of the poison, and that presents with caustic injury of the oral cavity and pharynx, as well as nausea, vomiting, epigastric pain, lethargy, loss of consciousness and fever. Patients may develop potentially life-threatening complications such as hepatic dysfunction, acute tubular necrosis and renal insufficiency, and respiratory failure (due to pulmonary fibrosis) due to its inherent toxicity and lack of effective treatment. Intoxication via inhalation, injection and dermal or mucus contact have also been reported.


combined oxidative phosphorylation defect type 21

Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver.


penile fibromatosis

Fibromatosis arising from the soft tissues of the penis. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It causes the penis to bend when it becomes erect.


mitochondrial complex 4 deficiency, nuclear type 12


brachydactyly type E

Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.


familial male-limited precocious puberty

Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height.


gonococcal urethritis

Inflammation of the urethra secondary to infection with Neisseria gonorrhoeae; this infection is spread through sexual contact.


2p13.2 microdeletion syndrome

2p13.2 microdeletion syndrome is a rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy.


panophthalmitis

Acute suppurative inflammation of the inner eye with necrosis of the sclera (and sometimes the cornea) and extension of the inflammation into the orbit. Pain may be severe and the globe may rupture. In endophthalmitis the globe does not rupture.


Baller-Gerold syndrome

Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).


baker Vinters syndrome

A very rare syndrome characterized by craniosynostosis (premature fusion of skull bones), hydrocephalus (an abnormal increase of cerebrospinal fluid in the ventricles of the brain) and abnormal development of the channel or duct in the middle of the brain that connects the third and fourth ventricles. This is an n-of-1 use case where only one patient or family has been described with this disorder.


monieziasis

Infection of ruminants with tapeworms of the genus Moniezia.


acute myeloid leukemia, Monosomy 7

Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 7. (A chromosomal abnormality consisting of the absence of one of the copies of chromosome 7 in somatic cells.)


lumpy skin disease

A poxvirus infection of cattle characterized by the appearance of nodules on all parts of the skin.


hypotrichosis 13

Any hypotrichosis in which the cause of the disease is a mutation in the KRT71 gene.


temtamy preaxial brachydactyly syndrome

An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has material basis in homozygous mutation in the CHSY1 gene.


benign neoplasm of soft palate

A benign neoplasm that involves the soft palate.


neuropathy, hereditary motor and sensory, type 6B

Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the SLC25A46 gene.


hypercalcemia, infantile, 2

Any hypercalcemia, infantile in which the cause of the disease is a mutation in the SLC34A1 gene.


autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures


developmental disorder of mental health

A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development.


acute myeloid leukemia with t(9;11)(p22;q23)


Charcot-Marie-Tooth disease axonal type 2X

Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the SPG11 gene.


inborn serine deficiency

An inherited metabolic disease that is has its basis in the disruption of L-serine biosynthetic process.


congenital generalized lipodystrophy type 3

Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAV1 gene.


columnar cell hyperplasia of the breast

A columnar cell lesion characterized by the presence of enlarged terminal ductal lobular units with dilated acini. The acini are lined by more than two layers of columnar epithelial cells. Prominent apical cytoplasmic snouts are present. Secretions are often present in the lumina of the dilated acini.


annular epidermolytic ichthyosis

Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities.


vitreous disorder

A disease involving the vitreous humor.


intellectual disability, X-linked 63

Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ACSL4 gene.


orofacial cleft 10

Any orofacial cleft in which the cause of the disease is a mutation in the SUMO1 gene.


Wissler syndrome

A rheumatic syndrome of possibly allergic origin, usually affecting children and adolescents, and characterized by high fever, exanthema, arthralgia, leukocytosis, and increased sedimentation rate.


neuronopathy, distal hereditary motor, type 2C

Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB3 gene.


uterine cervix neoplasm

A neoplasm (disease) that involves the uterine cervix.


autosomal recessive nonsyndromic hearing loss 63

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


olfactory nerve disorder

A disease involving the olfactory nerve.


auditory system benign neoplasm

A sensory system benign neoplasm that is located in the auditory system.


Actinomycetales infectious disease

Infections with bacteria of the order actinomycetales.


autosomal recessive limb-girdle muscular dystrophy type R18

A form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.


neuronopathy, distal hereditary motor, type 7B

Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the DCTN1 gene.


hereditary skeletal muscle disorder

An instance of muscle tissue disorder that is caused by an inherited genomic modification in an individual.


orbit sarcoma

A malignant soft tissue neoplasm that arises from the structures of the orbit. The majority of the cases are rhabdomyosarcomas.


intellectual developmental disorder, autosomal recessive 71


holoprosencephaly 12 with or without pancreatic agenesis


Methotrexate-associated lymphoproliferative disorders are rare immunodeficiency-associated lymphoproliferative diseases characterized by lymphoid proliferation or lymphomas (large B-cell lymphoma, T-cell lymphoma, Hodgkin lymphoma, reactive lymphadenitis and a polymorphic post-transplant lymphoproliferative disorder) that develop in patients with different autoimmune diseases treated with methotrexate. Swelling is the predominant manifestation of the disease and regression after methotrexate withdrawal is observed in a significant proportion of patients.


mitochondrial complex IV deficiency, nuclear-type


myotonia fluctuans

Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion.


childhood-onset benign chorea with striatal involvement


spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability

A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. This is an n-of-1 use case where only one patient or family has been described with this disorder.


anterior cutaneous nerve entrapment syndrome

Anterior cutaneous nerve entrapment syndrome (ACNES) is a chronic neuropathic pain syndrome of the abdominal wall caused by entrapment of anterior cutaneous branches of 7 to 12th intercostal nerves along the lateral border of the anterior rectus abdominis fascia causing severe pain and tenderness of the involved dermatome.


Marinesco-Sjogren syndrome

Marinesco-Sjogren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.


platelet-type bleeding disorder 19

Any isolated hereditary giant platelet disorder in which the cause of the disease is a mutation in the PRKACG gene.


retinal ciliopathy due to mutation in Bardet-Biedl gene


mansonelliasis

A parasitic infection caused by the nematode Mansonella. Signs and symptoms include pruritus, headache, fever, arthralgias, and eosinophilia.


anterior pituitary gland disorder

A disease that involves the adenohypophysis.


hereditary spastic paraplegia 13

Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the HSPD1 gene.


heterotaxy, visceral, 8, autosomal

Any visceral heterotaxy in which the cause of the disease is a mutation in the PKD1L1 gene.


vagus nerve disorder

A disease involving the vagus nerve.


neurodevelopmental disorder with ataxia, hypotonia, and microcephaly


Blount disease

Blount disease is characterized by disturbed growth of the inner portion of the upper tibial extremity, progressively leading to bowlegged deformity with bone angulation just below the knee (tibia varus). In 60% of cases, the condition affects both legs.


janus kinase-3 deficiency

Deficiency of janus kinase-3 causing the near absence of T lymphocytes and Natural killer cells; and normal or elevated B lymphocytes due to an autosomal recessive variant of severe combined immunodeficiency.


symptomatic form of fragile X syndrome in female carrier


acquired angioedema type 2

Acquired angioedema type 2 (AAE2) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.


disorder of thiamine metabolism and transport


hereditary hyperbilirubinemia

An inherited disorder affecting the metabolism of bilirubin. It results in increased levels of bilirubin in the blood. Representative examples of this condition include Gilbert syndrome and Crigler-Najjar syndrome.


congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency

Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias.


hypogonadotropic hypogonadism 6 with or without anosmia

Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF8 gene.


bird headed-dwarfism, Montreal type

Microcephalic primordial dwarfism, Montreal type is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970.


aorta angiosarcoma

A malignant vascular neoplasm arising from the aorta.


basaloid follicular hamartoma

A type of pilosebaceous hamartoma characterized by basal cell epitheliomata, epidermoid cysts and comedones, and epidermal atrophy.


autosomal dominant proximal spinal muscular atrophy

Autosomal dominant form of proximal spinal muscular atrophy.


kidney benign neoplasm

A non-metastasizing neoplasm that arises from the kidney. Representative examples include cystic nephroma, metanephric adenoma, oncocytoma, and urothelial papilloma of the renal pelvis.


Hodgkin's lymphoma, lymphocytic depletion

A diffuse subtype of classical Hodgkin lymphoma which is rich in Hodgkin and Reed-Sternberg cells and/or depleted in non-neoplastic lymphocytes. (WHO, 2008)


patterned dystrophy of the retinal pigment epithelium


intellectual disability, autosomal recessive 65


angiomatous meningioma

A WHO grade I meningioma characterized by the presence of small and medium sized vessels that predominate over the meningioma cells.


premature ovarian failure 7

Any primary ovarian failure in which the cause of the disease is a mutation in the NR5A1 gene.


cutaneous mycosis

A mycosis that involves the integument and its appendages, including hair and nails. Infection may involve the stratum corneum or deeper layers of the epidermis.


neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia


childhood acute megakaryoblastic leukemia

An acute megakaryocytic leukemia that is characterized by fusion oncogenes involving transcriptional regulators in childhood.


pediatric liposarcoma

A rare malignant neoplasm arising from adipocytes, that occurs in children. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma.


ulna metaphyseal dysplasia syndrome

Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga.


radiation myelitis

A disease characterized by white matter damage to the spinal cord developed after a certain period of application of ionizing radiation.


variant Creutzfeldt-Jakob disease

A form of Creutzfeldt-Jakob disease that is most commonly contracted after consuming meat from an animal suffering from bovine spongiform encephalopathy.


echinococcosis

A parasitic infection caused by tapeworm larvae of Echinococcus. It affects livestock and humans. It is characterized by the formation of hydatid cysts mainly in the liver, lungs, spleen, and kidneys. Rupture of the cysts may lead to shock.


facioscapulohumeral muscular dystrophy 2

Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the SMCHD1 gene.


autosomal recessive spastic paraplegia type 68


Leber congenital amaurosis 16

Any Leber congenital amaurosis in which the cause of the disease is a mutation in the KCNJ13 gene.


genito-palato-cardiac syndrome

Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.


isolated growth hormone deficiency, type 5


Treacher Collins syndrome 2

Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1D gene.


autosomal recessive palmoplantar keratoderma and congenital alopecia

Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum.


X-linked intellectual disability, Sutherland-Haan type


hereditary spastic paraplegia 35

Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging.


syndromic X-linked intellectual disability Nascimento type

X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.


Sagliker syndrome

A rare bone disease that arises due to secondary hyperparathyroidism in patients with chronic renal failure receiving dialysis characterized by 'uglifying' the appearance of the face


Cole-Carpenter syndrome 1

Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the P4HB gene.


chromosome 15q13.3 microdeletion syndrome

15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.


atrial septal defect 3

Any atrial heart septal defect in which the cause of the disease is a mutation in the MYH6 gene.


immune system cancer

A malignant neoplasm involving the immune system


X-linked intellectual disability, Schutz type


poliovirus infection

An disease or disorder caused by infection with Enterovirus C.


brachyolmia, Maroteaux type

Autosomal recessive brachyolmia, Maroteaux type is a relatively mild form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short trunk/short stature, generalized platyspondyly and rounding of vertebral bodies. It remains unknown whether the phenotype represents a single disease entity or a heterogeneous group of mild skeletal dysplasias.


intellectual disability, autosomal dominant 52


intellectual disability, autosomal recessive 23


corticobasal degeneration disorder

A progressive neurodegenerative condition affecting the cerebral cortex and basal ganglia. The disorder is characterized by varying degrees of cognitive and motor impairment.


white piedra

A superficial mycosis due to T beigelii that is characterized by a soft, friable, beige nodule of the distal ends of hair shafts.


Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50.


generalized galactose epimerase deficiency


Bartholin gland neoplasm

A benign or malignant neoplasm that affects the Bartholin gland. Representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma.


B cell linker protein deficiency

A hypobammaglobulinemia that is a B cell deficiency that has material basis in a mutation in a cytoplasmic linker or adaptor protein that plays a critical role in B cell development, the B cell linker protein (BLNK) gene. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. The BLNK gene is associated with intracellular calcium mobilization, essential for cell activation.


Meier-Gorlin syndrome 3

Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC6 gene.


torsion dystonia 2

Primary dystonia DYT2 type is characterized by segmental dystonia that manifests with involuntary posturing affecting predominantly the feet.


hypogonadotropic hypogonadism 23 with or without anosmia

Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the LHB gene.


delusional disorder

A disorder characterized by the presence of one or more nonbizarre delusions that persist for at least 1 month; the delusion(s) are not due to schizophrenia or a mood disorder, and do not impair psychosocial functioning apart from the ramifications of the delusion(s).


adult myxoid chondrosarcoma

A myxoid chondrosarcoma occurring in adults.


autosomal recessive cerebellar ataxia-blindness-deafness syndrome


X-linked mandibulofacial dysostosis

X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum.


renal tubular acidosis, distal, 4, with hemolytic anemia

Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA) characterized by a defect in renal acidification and hereditary hemolytic anemia.


This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss.


acute myeloid leukemia, inv(3)(q21.3;q26.2)

Any acute myeloid leukemia that has the chromosomal anomaly inv(3)(q21.3;q26.2). (A cytogenetic abnormality that refers to a paracentric inversion involving breakpoints on the long (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.)


eyelid neoplasm

A benign or malignant neoplasm that affects the eyelid. Representative examples include hemangioma, nevus, and carcinoma.


polyclonal hypergammaglobulinemia

A laboratory test result indicating abnormally high proliferation of gamma globulins in the blood originating from multiple cell lines.


hereditary alopecia

An instance of alopecia that is caused by a modification of the individual's genome.


refractory anemia with excess blasts in transformation

Refractory anemia with excess blasts in transformation (RAEB-T) is characterized by dysplastic features of the myeloid and usually erythroid progenitor cells in the bone marrow and an increased number of myeloblasts in the peripheral blood. The peripheral blood blast count ranges from 20% to 30%. RAEB-T used to be a subcategory of myelodysplastic syndromes in the past. Recently, the term has been eliminated from the WHO based classification of myelodysplastic syndromes. The reason is that the percentage of peripheral blood blasts required for the diagnosis of acute myeloid leukemia has been reduced to 20%. The elimination of the RAEB-T term by the WHO experts has created confusion and ongoing arguments. Currently, according to WHO classification, the vast majority of RAEB-T cases are best classified as acute leukemias (acute leukemias with multilineage dysplasia following myelodysplastic syndrome). A minority of cases are part of RAEB-2.


Queensland tick typhus

A spotted fever that has material basis in Rickettsia australis, which is transmitted by ticks (Ixodes holocyclus). The infection has symptom fever, has symptom headache, has symptom myalgia, has symptom maculopapular rash, and has symptom lymphadenopathy.


Bacteroidaceae infectious disease

Infections with bacteria of the family BACTEROIDACEAE.


malignant mixed epithelial and mesenchymal tumor of cervix uteri


renal tubular transport disease

Genetic defects in the selective or non-selective transport functions of the kidney tubules.


acquired factor VII deficiency

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


Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome

This syndrome is characterized by the association of MC6bius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism.


acquired coagulation factor deficiency

Deficiency of a coagulation factor that is not caused by genetic alterations. Causes include vitamin K deficiency, amyloidosis, and severe liver disease.


EGF-related primary hypomagnesemia with intellectual disability


autosomal recessive nonsyndromic hearing loss 27

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q31.


COG8-congenital disorder of glycosylation

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterized by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products.


pleural disorder

A non-neoplastic or neoplastic disorder that affects the pleura. Representative examples include pleural infection, pleural mesothelioma, and pleural solitary fibrous tumor.


lesion of sciatic nerve

A peripheral nerve lesion that involves the sciatic nerve.


intellectual disability, autosomal recessive 13

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TRAPPC9 gene.


premature ovarian failure 9

Any primary ovarian failure in which the cause of the disease is a mutation in the HFM1 gene.


exhibitionism

A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the exposure of one's genitals to an unsuspecting stranger.


grade III lymphomatoid granulomatosis

A lymphomatoid granulomatosis that is characterized by the presence of aggregates of neoplastic large B-lymphocytes, usually admixed with pleomorphic and Hodgkin-like cells, in a background of chronic inflammation. Necrotic changes are present and are usually extensive.


Fanconi anemia complementation group R

Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51 gene.


decompression sickness

A condition occurring as a result of exposure to a rapid fall in ambient pressure. Gases, nitrogen in particular, come out of solution and form bubbles in body fluid and blood. These gas bubbles accumulate in joint spaces and the peripheral circulation impairing tissue oxygenation causing disorientation, severe pain, and potentially death.


familial hypoaldosteronism

Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone).


hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature


hereditary nephritis

A group of inherited conditions characterized initially by hematuria and slowly progressing to renal insufficiency. The most common form is the Alport syndrome (hereditary nephritis with hearing loss) which is caused by mutations in genes for type IV collagen and defective glomerular basement membrane.


xeroderma pigmentosum group A

Any xeroderma pigmentosum in which the cause of the disease is a mutation in the XPA gene.


ventricular septal defect 3

Any ventricular septal defect in which the cause of the disease is a mutation in the NKX2-5 gene.


severe hemophilia A

Severe hemophilia A is a form of hemophilia A characterized by a large deficiency of factor VIII leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.


tricho-retino-dento-digital syndrome

Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients.


acute disseminated encephalomyelitis without anti-MOG antibodies


split hand-foot malformation 6

Any split hand-foot malformation in which the cause of the disease is a mutation in the WNT10B gene.


maxillary sinusitis

An acute or chronic inflammatory process affecting the mucous membrane of the maxillary sinus.


Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.


Y chromosome infertility due to DAZ1 deletion


neonatal severe primary hyperparathyroidism

Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism.


progeroid and marfanoid aspect-lipodystrophy syndrome


iatrogenic disease

Any adverse condition in a patient occurring as the result of treatment by a physician, surgeon, or other health professional, especially infections acquired by a patient during the course of treatment.


5q35 microduplication syndrome

The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation.


aortic aneurysm, familial thoracic 6

Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the ACTA2 gene.


inherited thyroid metabolism disease

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


neurodevelopmental disorder with dysmorphic facies and variable seizures


aleukemic leukemia

A leukemia characterized by the absence of leukemic cells in the peripheral blood.


Fanconi anemia complementation group Q

Any Fanconi anemia in which the cause of the disease is a mutation in the ERCC4 gene.


retinitis pigmentosa 18

Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF3 gene.


microcephaly 23, primary, autosomal recessive


Niemann-Pick disease, type C1

Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein.


Adams-Oliver syndrome 1

Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the ARHGAP31 gene.


This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis.


otorhinolaryngologic disease

Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases.


organophosphate poisoning

A poisoning that is caused by exposure to organophosphate.


lacrimal duct cancer

A primary or metastatic malignant neoplasm affecting the lacrimal duct.


spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant


EEM syndrome

EEM syndrome is characterized by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1).


distal trisomy 19q

Distal trisomy 19q is a rare chromosomal anomaly syndrome characterized by low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (e.g. clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations.


trochlear nerve neoplasm

A neoplasm involving a trochlear nerve.


hereditary spastic paraplegia 38

A hereditary spastic paraplegia that has material basis in variation in the chromosome region 4p16-p15.


lichen planopilaris

Lichen planopilaris (LPP) is a rare cutaneous variant of lichen planus which affects hair follicles. It may occur on its own or in association with more common forms of lichen planus, usually classical type and/or oral lichen planus.


nasal cavity disorder

A disease involving the nasal cavity.


Actinobacillus infectious disease

Infections with bacteria of the genus actinobacillus.


Epstein-Barr virus-associated mesenchymal tumor


chronic inflammation of lacrimal passage


partial duplication of the long arm of chromosome 17


mitochondrial DNA depletion syndrome

The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome.


glycoprotein metabolism disease

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


immunodeficiency 63 with lymphoproliferation and autoimmunity


Pelizaeus-Merzbacher disease, classic form

The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD.


polyp of frontal sinus

A polyp that involves the frontal sinus.


pontocerebellar hypoplasia type 1A

Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VRK1 gene.


hypogonadotropic hypogonadism-frontoparietal alopecia syndrome

This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia.


disorder of organic acid metabolism

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


spinal muscular atrophy, type II

Proximal spinal muscular atrophy type 2 (SMA2) is a chronic infantile form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.


trichodental syndrome

Trichodental syndrome is characterized by the association of fine, dry and short hair with dental anomalies. It has been described in less than 10 families. The mode of transmission is autosomal dominant.


Uner Tan Syndrome

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


splenic tuberculosis

Infection of the spleen with species of mycobacterium.


IgG4-related disease

A recently described mass-forming lesion that occurs in the pancreas, submandibular glands, lacrimal glands, lymph nodes, and hepatobiliary tract. It is characterized by the presence of marked tissue sclerosis and infiltration by numerous plasma cells. The plasma cells show immunohistochemical staining for IgG4 and the serum IgG4 levels are often increased.


familial thyroglossal duct cyst

Familial thyroglossal duct cyst (TDC) is a very rare inherited form of TDC characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck.


periapical periodontitis

Inflammation of the periapical tissue. It includes general, unspecified, or acute nonsuppurative inflammation. Chronic nonsuppurative inflammation is periapical granuloma. Suppurative inflammation is periapical abscess.


IRIDA syndrome

IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment.


melanoacanthoma

A benign, darkly pigmented skin lesion characterized by proliferation of keratinocytes and melanocytes.


erythrocytosis, familial, 4

Any familial polycythemia in which the cause of the disease is a mutation in the EPAS1 gene.


central nervous system calcification-deafness-tubular acidosis-anemia syndrome

This syndrome is characterized by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family.


coenzyme Q10 deficiency, primary, 3

Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the PDSS2 gene.


glycogen storage disease due to GLUT2 deficiency

Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism.


OSLAM syndrome

OSLAM syndrome is characterized by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangy, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anemia.


autoimmune lymphoproliferative syndrome type 2B

Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.


spinocerebellar ataxia, autosomal recessive 28


metabolic epilepsy

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


partial deletion of the long arm of chromosome 3


adenomatoid odontogenic tumor

A benign, slow growing neoplasm arising from tooth-forming tissues. The vast majority of cases are intraosseous and most often grow in the maxilla. It is characterized by the presence of odontogenic epithelium which is embedded in a connective tissue stroma. Local excision is curative and recurrences are very rare.


nystagmus 2, congenital, autosomal dominant


oocyte maturation defect 2

Any inherited oocyte maturation defect in which the cause of the disease is a mutation in the TUBB8 gene.


anterior segment developmental abnormality with extraocular manifestations


infantile glycine encephalopathy

Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE), characterized by early hypotonia, developmental delay and seizures.


congenital rubella syndrome

An infectious embryofetopathy that may present in an infant as a result of maternal infection and subsequent fetal infection with rubella virus. CRS can lead to deafness, cataract, and variety of other permanent manifestations including cardiac and neurological defects.


atactic disorder

A central nervous system disease that consists of gait impairment, unclear (“scanning”) speech, visual blurring due to nystagmus, hand incoordination, and tremor with movement.


MED12-related intellectual disability syndrome

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


infectious myositis

An infectious process affecting the skeletal muscles. It can be caused by viruses (including HIV), bacteria, fungi, and parasites. Symptoms include muscle weakness and muscle pain.


early-onset cerebellar ataxia with retained tendon reflexes

Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss.


peeling skin syndrome 5

Any peeling skin syndrome in which the cause of the disease is a mutation in the SERPINB8 gene.


late-onset junctional epidermolysis bullosa

Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB) occurring in childhood or young adulthood.


bladder benign neoplasm

A benign abnormal growth of the cells that comprise the bladder.


mesenchymoma

A term describing a soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation.


autosomal recessive Stickler syndrome

A rare type of Stickler syndrome characterized by moderate to severe sensorineural hearing loss, high myopia, retinal degeneration, vitreous anomalies, and epiphyseal dysplasia. Midface hypoplasia, cleft palate, as well as additional skeletal manifestations (such as platyspondyly, scoliosis, and tibial and femoral bowing at birth) have also been observed.


oculocerebrofacial syndrome, Kaufman type


Joubert syndrome and related disorders

Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the "molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa.


retinitis pigmentosa 61

Any retinitis pigmentosa in which the cause of the disease is a mutation in the CLRN1 gene.


neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency


negative rheumatoid factor polyarthritis


factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor


autosomal dominant pseudohypoaldosteronism type 1

Renal pseudohypoaldosteronism type 1 (renal PHA1) is a mild form of primary mineralocorticoid resistance restricted to the kidney.


isolated right ventricular hypoplasia

Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy.


congenital disorder of glycosylation with defective fucosylation


mosaic trisomy 17

Mosaic trisomy 17 is a rare chromosomal anomaly syndrome, with a highly variable clinical presentation, mostly characterized by growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (e.g. ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (e.g. cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported.


MERTK-related retinopathy

An inherited retinopathy caused by bi-allelic variants in the MERTK gene.