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


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

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


paratenonitis with tendinosis

Paratenonitis associated with intratendinous degeneration.


hypocalcemic rickets

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


distal arthrogryposis type 5D

Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature.


neuropathy with hearing impairment

This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy.


posterior mediastinum cancer

A malignant neoplasm involving the posterior mediastinum.


autosomal recessive nonsyndromic hearing loss 86

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene.


localized Castleman disease

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


developmental and epileptic encephalopathy, 56


mental disorder

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


intermediate cell type uveal melanoma

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


immune system organ benign neoplasm

A benign neoplasm that involves the immune organ.


autosomal recessive ocular albinism

Autosomal recessive form of ocular albinism (disease).


peroxisome biogenesis disorder 12A (Zellweger)


Astroviridae infectious disease

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


post-viral disorder

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


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


Bartter syndrome type 4

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


X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome

A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has material basis in mutation in the CLIC2 gene on chromosome Xq28.


amelogenesis imperfecta type 1B

Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ENAM gene.


hypothalamic neoplasm

A primary or metastatic neoplasm that affects the hypothalamus.


acrokeratosis verruciformis

A rare genetic skin keratinization disorder with an autosomal dominant mode of inheritance. It is characterized by numerous flesh-colored warty papules on the back of the hands, medial aspect of the feet, knees, and elbows.


multiple benign circumferential skin creases on limbs 1


disorder of carnitine cycle and carnitine transport


migraine, familial hemiplegic, 3

Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the SCN1A gene.


partial deletion of the long arm of chromosome 20


megalencephalic leukoencephalopathy with subcortical cysts 3


impetigo herpetiformis

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


familial idiopathic steroid-resistant nephrotic syndrome with minimal changes


1p21.3 microdeletion syndrome

1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder.


ALS2-related motor neuron disease

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


congenital muscular dystrophy with intellectual disability and severe epilepsy


familial hypobetalipoproteinemia 2

Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the ANGPTL3 gene.


maternally-inherited spastic paraplegia

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


incontinentia pigmenti

Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).


inflammatory linear verrucous epidermal nevus


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


spinocerebellar ataxia, autosomal recessive 29


congenital hypoplasia of the mitral valve annulus

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


A category of clonal hematopoietic disorders that have both myelodysplastic and myeloproliferative features at the time of initial presentation.


multiple epiphyseal dysplasia type 4

Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.


cornea cancer

A malignant neoplasm involving the cornea.


autosomal dominant keratitis

Hereditary keratitis is characterized by opacification and vascularisation of the cornea, often associated with macula hypoplasia.


postorgasmic illness syndrome

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


thyroid gland angiosarcoma

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


pseudopelade of Brocq

Pseudo-pelade of Brocq is a rare hair abnormality characterized by onset in adulthood of soft, irregular, flesh-toned patches of alopecia primarily in the parietal and vertex portions of the scalp, without follicular hyperkeratosis or perifollicular inflammation.


amoebiasis due to free-living amoebae

Free-living amebae belonging to the genera Acanthamoeba, Balamuthia, Naegleria and Sappinia are important causes of disease in humans and animals. Naegleria fowleri produces an acute, and usually lethal, central nervous system (CNS) disease called primary amebic meningoencephalitis (PAM). Acanthamoeba spp. and Balamuthia mandrillaris are opportunistic free-living amebae capable of causing granulomatous amebic encephalitis (GAE) in individuals with compromised immune systems. Sappinia pedata has been implicated in a case of amebic encephalitis. Naegleria fowleri and Acanthamoeba spp., are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units.


Hennekam syndrome

Hennekam syndrome is characterized by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism.


autoimmune limbic encephalitis

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


sheep disease

Diseases of domestic and mountain sheep of the genus Ovis.


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

A group of rare myeloid and lymphoid neoplasms characterized by rearrangement of the PDGFRA, PDGFRB, or FGFR1 genes, resulting in the formation of fusion transcripts and aberrant tyrosine kinase activity. Eosinophilia is a characteristic finding but it is not always present. This group includes the myeloid and lymphoid neoplasms with t(8;9)(p22;p24.1);PCM1-JAK2 as a provisional entity.


Leydig cell hypoplasia due to partial LH resistance


generalized basaloid follicular hamartoma syndrome

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


rippling muscle disease with myasthenia gravis


hereditary angioedema type 3

Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.


alpha-N-acetylgalactosaminidase deficiency type 3

Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency with developmental, neurologic and psychiatric manifestations presenting at an intermediate age.


cataract 40

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


retinitis pigmentosa 10

Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPDH1 gene.


nephrogenic diabetes insipidus-intracranial calcification syndrome

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


A non-severe combined immunodeficiency disorder manifesting with recurrent respiratory infections, candidiasis, diarrhea, and failure to thrive. Patients show a clear predisposition to herpes viral infections, and features of immune dysregulation, including hypereosinophilia, vitiligo, and alopecia areata. Other features include lymphadenopathy and hepatosplenomegaly. CD3+ T-cells express TCR- gamma|delta, but little or no TCR-alpha|beta.


congenital myopathy 2b, severe infantile, autosomal recessive


Bardet-Biedl syndrome 13

Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the MKS1 gene.


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2

Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RNASEH1 gene.


peroxisome biogenesis disorder 11A (Zellweger)


intellectual disability, X-linked 102

An inherited condition caused by mutation(s) in the DDX3X gene, encoding ATP-dependent RNA helicase DDX3X. It is characterized by severe intellectual disability and variable neurologic features.


brachydactylous dwarfism, Mseleni type

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


mild hemophilia A

Mild hemophilia A is a form of hemophilia A characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.


hereditary peripheral neuropathy

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


ciliary body epithelioid cell melanoma

A epithelioid cell melanoma that involves the ciliary body.


metaphyseal chondrodysplasia, Kaitila type

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


carcinosarcoma of the corpus uteri

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


chronic maxillary sinusitis

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


intellectual disability, autosomal dominant 13

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DYNC1H1 gene.


IFAP syndrome with or without BRESHECK syndrome

An X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome.


cervical benign neoplasm

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


disorder of lacrimal gland

A disease that involves the lacrimal gland.


Wilms tumor 6

Any Wilms tumor in which the cause of the disease is a mutation in the REST gene.


ulnar nerve lesion

A peripheral nerve lesion that involves the ulnar nerve.


antenatal multiminicore disease with arthrogryposis multiplex congenita


ectopic aldosterone-producing tumor

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


familial monosomy 7 syndrome

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


alpha-gal syndrome

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


distal chromosome 18q deletion syndrome

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


A familial epilepsy syndrome in which family members display a seizure disorder from the generalized epilepsy with febrile seizures plus spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS).


familial isolated hypoparathyroidism due to impaired PTH secretion


multiple epiphyseal dysplasia type 5

Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission.


audiogenic seizures

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


generalized resistance to thyroid hormone

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


acute myeloid leukemia, PTPN11 gene mutation

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


cardiac glycoside intoxication

A poisoning that is caused by exposure to cardiac glycoside.


autosomal dominant nonsyndromic hearing loss 5

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


acute zonal occult outer retinopathy

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


lymphoma, Hodgkin, X-linked pseudoautosomal


myopathy, centronuclear, 5

Any autosomal recessive centronuclear myopathy in which the cause of the disease is a mutation in the SPEG gene.


infective arthritis

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


neurocristopathy

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


hereditary sensory and autonomic neuropathy with spastic paraplegia

This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia.


short QT syndrome type 1

Any short QT syndrome in which the cause of the disease is a mutation in the KCNH2 gene.


polyp of maxillary sinus

A polyp that involves the maxillary sinus.


secondary hyperparathyroidism of renal origin


Fusobacterium infectious disease

Infections with bacteria of the genus fusobacterium.


3M syndrome 3

Any 3-M syndrome in which the cause of the disease is a mutation in the CCDC8 gene.


spinocerebellar ataxia type 37

Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by a cerebellar syndrome along with altered vertical eye movements.


congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome

An autosomal recessive condition caused by mutation(s) in the ASNS gene, encoding asparagine synthetase. It is characterized by microcephaly, severely delayed psychomotor development, progressive encephalopathy, seizures, and cortical atrophy.


intellectual disability, X-linked 97

Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF711 gene.


mitochondrial complex 1 deficiency, nuclear type 15


amelocerebrohypohidrotic syndrome

Kohlschütter-TC6nz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.


intellectual disability, X-linked 9

Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FTSJ1 gene.


Zika virus infectious disease

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


neurodevelopmental disorder with involuntary movements


fire ant poisoning

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


candidal paronychia

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


spondyloepimetaphyseal dysplasia, Maroteaux type

A very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.


congenital factor X deficiency

Congenital factor X deficiency is an inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms.


serous or mucinous cystadenoma of childhood

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


chronic mucocutaneous candidiasis due to monocyte chemotactic disorder


tubulinopathy

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


combined immunodeficiency due to ORAI1 deficiency

A form of combined immunodeficiency due to Calcium release activated Ca2+ (CRAC) channel dysfunction characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.


d-2-hydroxyglutaric aciduria 2

Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the IDH2 gene.


Boudhina Yedes Khiari syndrome

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


spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1

Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia.


klumpke's paralysis

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


primary ciliary dyskinesia 18

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF5 gene.


inherited acute myeloid leukemia

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


Johanson-Blizzard syndrome

A multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.


autoimmune neuropathy

An autoimmune form of peripheral neuropathy.


proliferative fasciitis

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


neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia


hemolytic disease of the newborn with Kell alloimmunization


inborn vitamin B12 deficiency

Low serum levels of vitamin B12 (cobalamin) due to poor intestinal absorption, decreased dietary intake, or increased physiologic requirement.


adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases.


eccrine sweat gland neoplasm

A neoplasm involving a eccrine sweat gland.


Omsk hemorrhagic fever

Omsk hemorrhagic fever (OHF), caused by Omsk hemorrhagic fever virus (OHFV), is a zoonotic disease characterized by fever, nausea, myalgia and moderately severe hemorrhagic manifestations as well as in some cases meningitis, pneumonia and nephrosis.


autosomal dominant distal myopathy

Autosomal dominant form of distal myopathy.


PHGDH deficiency

3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form


fibular hemimelia

Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone.


Erysipelothrix infectious disease

Infections with bacteria of the genus erysipelothrix.


nail anomaly

A epidermal appendage anomaly that involves the nail.


pyruvate carboxylase deficiency disease

Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients.


non-syndromic intellectual disability

An intellectual disability that is not part of a larger syndrome.


complement component C1s deficiency

A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis.


factor XIII deficiency

An acquired or inherited coagulation disorder due to reduced levels and activity of factor XIII.


pure hair and nail ectodermal dysplasia

Pure hair and nail ectodermal dysplasia is characterized by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant.


chronic rapidly progressive glomerulonephritis

Chronic form of rapidly progressive glomerulonephritis.


schizophrenia 7

A schizophrenia that has material basis in an autosomal dominant mutation of SCZD7 on chromosome 13q32.


vaccinia

The cutaneous and occasional systemic reactions associated with vaccination using smallpox (variola) vaccine.


acute myeloid leukemia with CEBPA somatic mutations

Acute myeloid leukemia with CEBPA somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly).


inhalational botulism

Inhalational botulism is a man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs).


megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability


Gerstmann-Straussler-Scheinker syndrome

A very rare and fatal disorder of spongiform encephalopathy usually caused by mutations of the prion protein (PRNP) gene. It is characterized by the accumulation of amyloid in the brain. Signs and symptoms include lack of motor coordination, unsteady gait, and difficulty walking. As the disease progresses, patients develop speech difficulties and dementia.


congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome


male reproductive system disorder

A disease involving the male reproductive system.


immunodeficiency 96

An autosomal recessive disorder characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood. Other infections, including gastrointestinal and urinary tract infections, may also occur. Laboratory studies show hypogammaglobulinemia, lymphopenia with increased gamma/delta T cells, and erythrocyte macrocytosis. The disorder results from defective cellular DNA repair.


Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome

Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.


polyploidy

Chromosomal disorder in which the chromosomal constitution of a cell containing multiples of the normal number of chromosomes; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.


panner disease

Panner's disease is an osteochondrosis of the capitellum of the humerus, characterized by involvement of the dominant upper limb and onset before the age of 10 years. It results from lateral compression injuries of the elbow typically occurring in children practicing sports such as baseball and throw. It should be distinguished from osteochondritis dissecans of the capitellum, occurring later, in adolescents. Management is symptomatic and consists in reducing the activities of the affected elbow for a prolonged period of time. Prognosis is good.


hereditary recurrent myoglobinuria

An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers.


non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy


X-linked intellectual disability-psychosis-macroorchidism syndrome


lichen planus pemphigoides

Lichen planus (LP) pemphigoides is a rare cross-over syndrome between lichen planus and bullous pemphigoid.


livedoid vasculopathy

Livedoid vasculopathy is a blood vessel disorder that causes painful ulcers and scarring (atrophie blanche) on the feet and lower legs. These symptoms can persist for months to years and the ulcers often recur.Livedoid vasculopathy lesions appear as painful red or purple marks and spots that may progress to small, tender, irregular ulcers. Symptoms tend to worsen in the winter and summer months, and affect women more often then men. Livedoid vasculopathy may occur alone or in combination with another condition, such as lupus or thrombophilia.


congenital anomaly of the great arteries


syndromic X-linked intellectual disability Claes-Jensen type


hypogonadotropic hypogonadism 20 with or without anosmia

Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF17 gene.


factor 5 and Factor VIII, combined deficiency of, 2

Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the MCFD2 gene.


large artery stroke

Stroke caused by the blockage of blood flow in one of the large arteries feeding the brain.


GM2 gangliosidosis

A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS.


retinitis pigmentosa 26

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


erythrocyte galactose epimerase deficiency


alpha-N-acetylgalactosaminidase deficiency type 1

Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy.


corpus callosum agenesis of blepharophimosis robin type


hypogonadotropic hypogonadism 4 with or without anosmia

Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROK2 gene.


developmental and epileptic encephalopathy 104


Perrault syndrome 3

Any Perrault syndrome in which the cause of the disease is a mutation in the CLPP gene.


Charcot-Marie-Tooth disease dominant intermediate C

Autosomal dominant intermediate Charcot-Marie-Tooth disease type C is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibers, segmental remyelination, and no onion bulbs.


fibroblastic liposarcoma

A liposarcoma characterized by the presence of a fibroblastic component.


pharynx neoplasm

A neoplasm (disease) that involves the pharynx.


hereditary intrinsic factor deficiency

Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities.


neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia


palpebral epidermal tumor

A neoplasm (disease) that involves the skin of eyelid.


A rare, genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy, and dental enamel anomalies. Variable features include failure to thrive, developmental delay, and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis.


tick infestation

Infestations with soft-bodied (Argasidae) or hard-bodied (Ixodidae) ticks.


hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome


persistent fetal circulation syndrome

A cardiopulmonary disorder characterized by systemic arterial hypoxemia secondary to pulmonary hypertension and extrapulmonary right to left shunting across the foramen ovale and ductus arteriosus.


progressive non-infectious anterior vertebral fusion

Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features.


patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome

Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant.


immunoglobulin heavy-and-light chain

An amyloidosis that is characterized by both Ig heavy chains and LC contribute to the amyloid fibrils.


Klippel-Feil syndrome 3, autosomal dominant

Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF3 gene.


telangiectasia, hereditary hemorrhagic, type 1


acute subendocardial myocardial infarction

Acute form of subendocardial myocardial infarction.


malignant germ cell tumor of corpus uteri

A malignant germ cell tumor that involves the body of uterus.


severe early-onset axonal neuropathy due to MFN2 deficiency

A rare axonal hereditary motor and sensory neuropathy characterized by early onset (<10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop.


normophosphatemic familial tumoral calcinosis


cor biloculare

A congenital anatomic anomaly in which the heart has only two chambers.


thoracolaryngopelvic dysplasia

A short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis.


posterior polymorphous corneal dystrophy

Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision.


translocation Down syndrome

Down syndrome in which the extra (partial or total) copy of chromosome 21 genetic material is attached to another chromosome.


acute myeloid leukemia, t(16;21)(q24;q22)

Any acute myeloid leukemia that has the chromosomal anomaly t(16;21)(q24;q22). (A cytogenetic abnormality that refers to the translocation of the long arm (q24) of chromosome 16 and the long arm (q22) of chromosome 22. It is associated with RUNX1/CBFA2T3 fusions, myelodysplastic syndromes and acute myeloid leukemia.)


carnitine palmitoyl transferase II deficiency, severe infantile form

The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease.


GLUT1 deficiency syndrome

An epileptic encephalopathy resulting from impaired glucose transport into the brain.


acute disseminated encephalomyelitis with anti-MOG antibodies


neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis


Bardet-Biedl syndrome 1

A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13.


short-rib thoracic dysplasia 18 with polydactyly


median cleft of the upper lip and maxilla

Median cleft of the upper lip and maxilla is a rare, congenital, developmental defect during embryogenesis characterized by a midline vertical cleft through the upper lip and premaillary bone (can also involve the nasal septum and central nervous system). The phenotypic spectrum is highly variable (ranging from a simple vermillion notch to a wide complete cleft) and hypo/hypertelorism, telecanthus, monophthalmia, flat or cleft nose, wide columella, median alveolar cleft and cranial malformations may be associated.


myoglobinuria, acute recurrent, autosomal recessive


coronal synostosis, syndactyly and jejunal atresia


chronic gonorrhea of cervix

Chronic form of gonococcal cervicitis.


combined oxidative phosphorylation deficiency 36


chromosome 11p13 deletion syndrome, distal


spontaneous ocular nystagmus

Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)


Majocchi granuloma

An inflammatory and granulomatous, dermatophytic infection that is classified into two forms, depending on the affected individual’s health situation and clinical picture. The first form is mainly observed in healthy individuals and is defined as a perifollicular, papular form induced by penetrating trauma that is mostly observed in the lower extremities. The second form is granulomatous, related to immunosuppression, seen in a nodular form, and usually appears on the upper extremities.


craniometaphyseal dysplasia, autosomal dominant


anemia due to enzyme disorder

Any form of anemia that results from the absence of, or the defective action of, any enzyme.


Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet).


mucolipidosis

A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations.


autosomal recessive limb-girdle muscular dystrophy type 2J

Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset.


pityriasis rosea

A mild, self-limited skin disorder that is most commonly seen in children and young adults. It is characterized by an initial large round spot on the chest, abdomen, or back, often referred to as a herald patch, that is usually followed within a week by a distinctive pattern of similar but smaller papules on the torso, arms, and legs. There may also be itching, especially when overheated.


spinocerebellar ataxia type 20

Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar dysarthria as the initial typical manifestation.


partial hydatidiform mole

Partial hydatiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of a normal ovocyte by two spermatozoa or one abnormal spermatozoon (allowing for some fetal development), and that manifests with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, hyperthyroidism and risk of spontaneous miscarriage.


acrofrontofacionasal dysostosis

A congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.


X-linked intellectual disability, Pai type is characterized by the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been localized to the q28 region of the X chromosome.


cataract 35

A cataract that has material basis in variation in the region 19q13.


spermatogenic failure 8

Any azoospermia in which the cause of the disease is a mutation in the NR5A1 gene.


nasolacrimal duct disorder

A disease or disorder that involves the nasolacrimal duct.


autosomal dominant slowed nerve conduction velocity

Autosomal dominant slowed nerve conduction velocity is a hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene.


intellectual disability syndrome due to a DYRK1A point mutation


spondyloepiphyseal dysplasia, Stanescu type


facioscapulohumeral muscular dystrophy 4, digenic


heterotaxy, visceral, 9, autosomal, with male infertility


autosomal dominant sensory ataxia 1

Any hereditary ataxia in which the cause of the disease is a mutation in the RNF170 gene.


2q31.1 microdeletion syndrome

2q31.1 microdeletion syndrome is a well-defined and clinically recognizable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects.


autosomal dominant Robinow syndrome 2

Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the DVL1 gene.


distal trisomy 6q

Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported.


orofaciodigital syndrome

Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.


episodic pain syndrome, familial, 2

Any familial episodic pain syndrome in which the cause of the disease is a mutation in the SCN10A gene.


short QT syndrome

A genetic disease of the electrical system of the heart that consists of a constellation of signs and symptoms, consisting of a short QT interval on an EKG (< 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. Short QT syndrome appears to be inherited in an autosomal dominant pattern, and a few affected families have been identified


non-Langerhans cell histiocytosis

Group of disorders which feature accumulations of active HISTIOCYTES and LYMPHOCYTES, but where the histiocytes are not LANGERHANS CELLS. The group includes HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; SINUS HISTIOCYTOSIS; xanthogranuloma; reticulohistiocytoma; juvenile XANTHOGRANULOMA; xanthoma disseminatum; as well as the lipid storage diseases (SEA-BLUE HISTIOCYTE SYNDROME; and NIEMANN-PICK DISEASES).


Warburg micro syndrome 1

Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP1 gene.


acrocraniofacial dysostosis

Acrocraniofacial dysostosis is a very rare form of acrofacial dyosotosis, reported in two sisters to date, characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988.


staphyloenterotoxemia

Food poisoning that is caused by Staphylococcal infection.


retinal macular dystrophy type 2

Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages.


congenital heart defects, multiple types, 1, X-linked


congenital agammaglobulinemia

An instance of agammaglobulinemia that is present from birth.


vesicoureteral reflux 8

Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene.


malignancy in giant cell tumor of bone

A malignant tumor that arises from the bone. It is characterized by the presence of an area of high grade sarcoma in an otherwise typical giant cell tumor (primary malignancy in giant cell tumor), or the presence of sarcoma in which the pre-existing giant cell tumor may or may not be apparent (secondary malignancy in giant cell tumor).


azygos continuation of the inferior vena cava


neoplasm of mature B-cells

A neoplasm of follicle center B cells which has at least a partial follicular pattern. Follicular lymphomas comprise about 35% of adult non-Hodgkin lymphomas in the U.S. and 22% worldwide. Most patients have widespread disease at diagnosis. Morphologically, follicular lymphomas are classified as Grade 1, Grade 2, and Grade 3, depending on the percentage of the large lymphocytes present. The vast majority of cases (70-95%) express the BCL-2 rearrangement [t(14;18)]. Histological grade correlates with prognosis. Grades 1 and 2 follicular lymphomas are indolent and grade 3 is more aggressive (adapted from WHO, 2001).


vitamin D hydroxylation-deficient rickets, type 1B

An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP2R1 gene, encoding vitamin D 25-hydroxylase, the hepatic enzyme that converts vitamin D to 25-hydroxyvitamin D, the precursor of 1,25-dihydroxyvitamin D (calcitriol). The condition is characterized by reduced serum concentrations of 25-hydroxyvitamin D, hypophosphatemia, hypocalcemia with secondary hyperparathyroidism and elevated serum alkaline phosphatase, and by failure to thrive, seizures, muscle weakness, and rickets.


neurodevelopmental disorder with microcephaly, ataxia, and seizures


torsion dystonia 7

A focal dystonia characterized by predomiantly cervical dystonia that has material basis in variation in the chromosome region 18p.


epilepsy, idiopathic generalized

A chronic condition characterized by recurrent generalized seizures.


gingival neoplasm

A benign or malignant neoplasm that affects the upper or lower gingiva.


autoimmune primary adrenal insufficiency

Diminished production of adrenocortical hormones due to autoimmune destruction of the adrenal glands.


inherited glutathione metabolism disease

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


tuberculum sellae meningioma

A meningioma that affects the tuberculum sellae.


punctate palmoplantar keratoderma type 2

Punctate palmoplantar keratoderma type 2 is a type of isolated, punctate, hereditary palmoplantar keratoderma characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections ("spiny keratosis") on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically, compact columnar parakeratosis over hypo- or agranular epidermis is observed.


oral leukoedema

A disorder of the buccal mucosa resembling early leukoplakia, characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer. (Dorland, 27th ed)


ectodermal dysplasia arthrogryposis diabetes mellitus


focal segmental glomerulosclerosis 8

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


short rib-polydactyly syndrome, Majewski type


endometrial disorder

A non-neoplastic or neoplastic disorder that affects the endometrium. Representative examples include endometritis, endometrial hyperplasia, and endometrial carcinoma.


nerve plexus neoplasm

A neoplasm (disease) that involves the nerve plexus.


intellectual disability, X-linked 61

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


cerebellar atrophy, visual impairment, and psychomotor retardation;


autosomal recessive nonsyndromic hearing loss 67

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LHFPL5 gene.


distal 7q11.23 microdeletion syndrome

Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression).


12q15q21.1 microdeletion syndrome

12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated.


gasserian ganglion meningioma

A meningioma that affects the trigeminal ganglion.


diabetes mellitus type 2 associated cataract

Diabetic cataracts are thought to be caused by hyperglycemia associated with disturbed glucose metabolism


glaucoma-sleep apnea syndrome

Glaucoma-sleep apnea syndrome is characterized by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children).


rheumatic disease of mitral valve

A rheumatologic disorder that involves the mitral valve.


developmental and epileptic encephalopathy 99


Perrault syndrome 1

Any Perrault syndrome in which the cause of the disease is a mutation in the HSD17B4 gene.


congenital thrombotic thrombocytopenic purpura

Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.


complement receptor deficiency

A disorder with basis in disruption of a complement receptor.


combined immunodeficiency due to CD3gamma deficiency

Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations.


hyperparathyroidism, primary, caused by water clear cell hyperplasia


high pressure neurological syndrome

A syndrome related to increased atmospheric pressure and characterized by tremors, nausea, dizziness, decreased motor and mental performance, and seizures. This condition may occur in those who dive deeply (c. 1000 ft) usually while breathing a mixture of oxygen and helium. The condition is associated with a neuroexcitatory effect of helium.


A rare disorder caused by mutation in the AMACR gene. Racemization is the prerequisite to beta-oxidation for branched chain fatty acids and bile acids. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy. AMACR deficiency rarely presents as liver disease in infancy.


Antley-Bixler syndrome

Antley-Bixler syndrome is a very rare disorder characterized by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.


borderline leprosy

A form of leprosy in which there are clinical manifestations of both principal types (lepromatous and tuberculoid). The disease may shift toward one of these two polar or principal forms.


testicular sex cord-stromal benign neoplasm

A sex cord-stromal benign neoplasm that arises from the testis.


pentasomy

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


hereditary spastic paraplegia 44

A very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein.


posterior cortical atrophy

Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities.


combined oxidative phosphorylation deficiency 43


inborn disorder of biogenic amine metabolism and transport


autosomal dominant sideroblastic anemia

Autosomal dominant form of sideroblastic anemia.


norovirus infectious disease

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


sialolithiasis

A concretion in the salivary gland.


hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency


Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet.


Charcot-Marie-Tooth disease axonal type 2V

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


pelvis-shoulder dysplasia

Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis.


Lutembacher syndrome

A condition characterized by a combination of ostium secundum atrial septal defect and an acquired mitral valve stenosis.


benign lipomatous neoplasm

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


febrile infection-related epilepsy syndrome

Febrile infection-related epilepsy syndrome (FIRES) describes an explosive-onset, potentially fatal acute epileptic encephalopathy that develops in previously healthy children and adolescents following the onset of a non-specific febrile illness.


Emery-Dreifuss-like muscular dystrophy

A rare inherited muscular dystrophy characterized by the coexistence of limb-girdle weakness and early-onset diffuse joint contractures without cardiomyopathy.


thrombophilia, X-linked, due to factor 8 defect


nephrolithiasis, X-linked recessive, with renal failure


Sheldon-hall syndrome

Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.


pre-descemet corneal dystrophy

Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision.


pigmented nodular adrenocortical disease, primary, 1

Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKAR1A gene.


inborn disorder of cobalamin metabolism and transport


acute myeloid leukemia with NPM1 somatic mutations

Acute myeloid leukemia with NPM1 somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts harboring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages. Patients usually present with leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy.


neurodevelopmental disorder with hyperkinetic movements and dyskinesia


Bartter disease type 4A

Any Bartter syndrome in which the cause of the disease is a mutation in the BSND gene.


hereditary ataxia

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


congenital myasthenic syndrome 10

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the DOK7 gene.


A syndrome characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy.


bladder neck cancer

A malignant neoplasm involving the neck of urinary bladder.


atypical hemolytic-uremic syndrome with H factor anomaly


retinitis pigmentosa 77

Any retinitis pigmentosa in which the cause of the disease is a mutation in the REEP6 gene.


penile urethral cancer

A urethra cancer that involves the penis.


indolent primary cutaneous B-cell lymphoma


autosomal dominant auditory neuropathy 1

Any auditory neuropathy in which the cause of the disease is a mutation in the DIAPH3 gene.


candidiasis, familial, 4

Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the CLEC7A gene.


neuronal ceroid lipofuscinosis 10

A rare condition that affects the nervous system. Signs and symptoms of the condition can develop any time from birth to adulthood and may include progressive dementia, seizures, lack of muscle coordination, and vision loss. CLN10-NCL is caused by changes (mutations) in the CTSD gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.


X-linked sideroblastic anemia 1

An inherited form of sideroblastic anemia.


congenital fiber-type disproportion myopathy

A rare genetic disorder caused by mutations in the TPM3, ACTA1, RYR1 or SEPN1 genes. It is inherited in an autosomal dominant or recessive pattern and rarely in an X-linked pattern. It manifests with myopathy throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Affected individuals may have contractures, lordosis, or scoliosis. In a minority of cases mild to severe breathing problems may occur.


bullous diffuse cutaneous mastocytosis

Bullous diffuse cutaneous mastocytosis (BDCM) is a form of diffuse cutaneous mastocytosis (DCM) characterized by generalized erythroderma and severe blistering associated with the accumulation of mast cells in the skin.


color agnosia

An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it.


non-specific autoimmune cerebellar ataxia with characteristic antibodies


lymphatic malformation 5

A frequent form of late-onset, primary lymphedema characterized by lower limb lymphedema typically developing during puberty.


tetrahydrobiopterin metabolic process disease

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


PSAP-related sphingolipidosis

A sphingolipidosis caused by variants in the PSAP gene. Clinical and biochemical features vary based on the location of variants within the gene and their molecular impact.


familial mitral valve prolapse

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


desmoid tumor

A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential.


nasal cavity cancer

A malignant neoplasm involving the nasal cavity


fixed subaortic stenosis

Fixed subaortic stenosis (FSS) is a rare heart malformation characterized by the obstruction by membranous or fibromuscular tissue of the left ventricular outflow tract (LVOT) below the aortic valve, that occurs as an isolated lesion or in association with additional cardiac malformations (e.g. ventricular septal defect, patent ductus arteriosus, coarctation of the aorta), that presents in childhood with signs of LVOT obstruction (e.g. dyspnea, chest pain, syncope, palpitations) and that can potentially lead to life-threatening complications (e.g. aortic regurgitation, infective endocarditis). It comprises three anatomical subforms: discrete fixed membranous subaortic stenosis (membranous tissue encircling the LVOT), discrete fibromuscular subaortic stenosis (fibromuscular tissue encircling the LVOT) and tunnel subaortic stenosis (fibromuscular diffuse tunnel-like narrowing of the LVOT), the two latter forms being generally more severe than the membranous form.


Cooks syndrome

Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized.


Al Kaissi syndrome

Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by {1:Windpassinger et al., 2017}).


epithelial predominant Wilms' tumor

Wilms tumor of the kidney characterized by the predominance of the epithelial component. The epithelial cells may form papillary and tubular patterns and pseudorosettes.


Hashimoto-Pritzker syndrome

Hashimoto-Pritzker histiocytosis (HPH) is a variant of Langerhans cell histiocytosis characterized by multiple disseminated skin lesions (firm, red-brown, painless papulo-nodules).


Adams-Oliver syndrome 2

Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DOCK6 gene.


benign eyelid neoplasm

A non-metastasizing neoplasm that arises from the upper or lower eyelid.


non-distal trisomy 13q

Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (incl. microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated.


mucopolysaccharidosis type 9

An autosomal recessive lysosomal storage disease caused by mutation(s) in the HYAL1 gene, encoding hyaluronidase-1. It is characterized by short stature and hyaluronidase deficiency.


aquagenic pruritus

Aquagenic pruritus is a conditionin which contact with water of any temperature causes intense itching, without any visible skin changes. The symptoms may begin immediately after contact and can last for an hour or more. The cause of aquagenic pruritus is unknown; however, familial cases have been described. It may be a symptom of polycythemia vera or another underlying condition. Overall, treatment is a challenge. Antihistamines, UVB phototherapy, PUVA therapy and various medications have been tried with varying degrees of success.


X-linked cerebellar ataxia

X-linked form of cerebellar ataxia.


cortisone reductase deficiency 1

Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency.


developmental and epileptic encephalopathy, 49

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DENND5A gene.


lissencephaly with cerebellar hypoplasia type C

Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death.


autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome


hypogonadotropic hypogonadism 26 with or without anosmia


myopathy, congenital proximal, with minicore lesions


circadian rhythm sleep disorder, jet lag type

A circadian sleep disorder that results from traveling across time zones.


erythroleukemia

An acute erythroid leukemia characterized by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow.


intellectual disability, autosomal dominant 11

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EPB41L1 gene.


gastrointestinal tularemia

A tularemia that results in formation of ulcerative lesions located in gastrointestinal tract. The infection has symptom fever, has symptom chills, has symptom malaise, has symptom muscle aches, and has symptom vomiting.


partial deletion of the long arm of chromosome 14

Chromosome 14q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 14.


Ehlers-Danlos syndrome, spondylodysplastic type

A form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.


congenital Epstein-Barr virus infection

Congenital Epstein-Barr virus (EBV) infection causes no clinical manifestations in the majority of infants. Indeed, the occurrence of congenital infection with EBV has never been demonstrated conclusively and must be very rare. One case have been reported to present after birth, multiple congenital anomalies (micrognathia, cryptorchidism, central cataracts), dystrophy, generalized hypotonia, hepatosplenomegaly, diffuse petechiae and hematomas and multiple areas of metaphysitis of the long bones at birth. A low birth weight was also reported. No specific follow-up of the fetus is recommended following maternal EBV primary-infection.


non-classic congenital lipoid adrenal hyperplasia due to STAR deficency


acquired night blindness

An instance of night blindness that is acquired during the lifetime of the individual.


autosomal recessive nonsyndromic hearing loss 14

An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S554 and D7S2459 in the chromosome region 7q31.


microcephaly 7, primary, autosomal recessive

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


short-limb skeletal dysplasia with severe combined immunodeficiency

Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.


hereditary motor neuron disease

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


anterior horn disorder

Anterior horn disease is one of a number of medical disorders affecting the anterior horn of the spinal cord. Anterior horn diseases include spinal muscular atrophy, poliomyelitis and amyotrophic lateral sclerosis.


B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)

A precursor lymphoid neoplasm which is composed of B-lymphoblasts and carries a translocation between the MLL (KMT2A) gene at 11q23.3 and another gene partner resulting in the production of an MLL related fusion protein.


fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3

Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.


neurodevelopmental disorder with or without early-onset generalized epilepsy


Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency

A rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the <i>CYP11A1</i> gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels.


Mitochondrial complex IV deficiency, nuclear type 23


angiosarcoma of the scalp

Angiosarcoma of the scalp is a rare cancer which most commonly affects the elderly. This condition is characterized by bruise-like lesions that escalate to elevated, nodular, or ulcerated tumors. Extensive local growth is common and metastasis to regional lymph nodes and to the lungs may occur. The cause of angiosarcoma of the scalp is unknown, although several associations have been reported, including lymphedema, prior radiation treatment, and environmental exposures. Treatment may include surgery, radiation and chemotherapy.


A syndrome that combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation.


intellectual developmental disorder, autosomal recessive 72


congenital muscular dystrophy due to LMNA mutation

Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported.


isolated hereditary congenital facial paralysis

Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal.


classic Kaposi sarcoma

A vascular sarcoma that commonly occurs in the lower extremities. It occurs predominantly in elderly male patients of southern European ancestry. It is characterized by the presence of purple, red-blue, or dark brown macular lesions, plaques and nodules. This disease is usually slow growing, although it can spread to the lungs and the gastrointestinal tract. If necessary, cutaneous lesions can be treated with radiation.


autosomal recessive congenital ichthyosis 3

Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ALOXE3 gene.


striatal degeneration, autosomal dominant

An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity.


Perrault syndrome 2

Any Perrault syndrome in which the cause of the disease is a mutation in the HARS2 gene.


neuromyelitis optica spectrum disorder with anti-MOG antibodies


multiple paragangliomas associated with polycythemia


Charcot-Marie-Tooth disease type 2E

Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.


cor triatriatum sinister

Cor triatriatum sinister (CTS) results when the left atrium is divided into two compartments by a membrane. The membrane can vary in size and shape and may have one or more openings. Severe cases of cor triatriatum sinister usually present in infancy and are often associated with other heart defects. In less severe cases, the diagnosis may not be made until later in life. The specific symptoms depend on the degree to which the membrane obstructs the flow of blood and whether or not there are additional heart defects. Symptoms may range from mild shortness of breath during exercise to signs of heart failure and lung congestion. Some people with CTS may not have symptoms. Treatment varies according to the severity of the symptoms. For symptomatic patients, surgery is generally consideredthe definitive course of therapy.


argyria

Argyria is a rare dermatosis, which can be either localized or systemic, that occurs after prolonged contact and absorption of silver containing compounds over a period of years and that is characterized by irreversible blue-gray to gray-black staining of skin, fingernails and/or mucous membranes, most evident on sun exposed areas of the skin. Silver exposure is usually occupational but may also occur through dental amalgams, the ingestion of colloidal silver, acupuncture needles, orthopedic implants and topical medications (such as silver sulfadiazine).


SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome


congenital heart malformation

A disease that has its basis in the disruption of heart development.


mal de Meleda

Mal de Melada (MdM) is a diffuse palmoplantar keratoderma initially reported from of the Island of Meleda characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgradiens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema.


sulfhemoglobinemia

A morbid condition due to the presence of sulfmethemoglobin in the blood. It is marked by persistent cyanosis, but the blood count does not reveal any special abnormality in the blood. It is thought to be caused by the action of hydrogen sulfide absorbed from the intestine. (Stedman, 25th ed)


corneal endothelial dystrophy

A corneal dystrophy (disease) that involves the corneal epithelium.


MEGF8-related Carpenter syndrome

Any Carpenter syndrome in which the cause of the disease is a mutation in the MEGF8 gene.


intracranial arteriosclerosis

Vascular diseases characterized by thickening and hardening of the walls of arteries inside the skull. There are three subtypes: (1) atherosclerosis with fatty deposits in the arterial intima; (2) Monckeberg's sclerosis with calcium deposits in the media and (3) arteriolosclerosis involving the small caliber arteries. Clinical signs include headache; confusion; transient blindness (amaurosis fugax); speech impairment; and hemiparesis.


spondyloepiphyseal dysplasia, Reardon type

Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process.


prostate leiomyoma

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


familial congenital palsy of trochlear nerve

An instance of fourth cranial nerve palsy that is caused by an inherited modification of the individual's genome.


pituitary hormone deficiency, combined, 1

Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the POU1F1 gene.


microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type

Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities.


neurodevelopmental disorder with hypotonia and dysmorphic facies


palmoplantar keratoderma-esophageal carcinoma syndrome

An inherited condition characterized by palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and esophageal cancer may form after age 20. This condition is caused by a mutation in the RHBDF2 gene and is inherited in an autosomal dominant pattern.


neonatal leukemia

Leukemia that occurs during the neonatal period.


Leber congenital amaurosis

Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.


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


distal trisomy 13q

Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (incl. microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported.


acute tricyclic antidepressant poisoning

Acute tricyclic antidepressant (TCA) poisoning is a potentially lethal intoxication that is characterized by life-threatening arrhythmias (sinus tachycardias, premature ventricular contractions, ventricular arrhythmias), anticholinergic toxidrome (mydriasis, dry mucous membrane, tachycardia, hypertension), central nervous system toxicity (lethargy, coma, myoclonic jerks), refractory hypotension, and sudden death.


otospondylomegaepiphyseal dysplasia, autosomal dominant

A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.


peroxisome biogenesis disorder due to PEX26 defect

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX26 gene.


leukemia, acute, X-linked

X-linked form of acute leukemia


granular corneal dystrophy type II

Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment.


Krabbe disease due to saposin A deficiency


Farber lipogranulomatosis

A rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.


adult-onset distal myopathy due to VCP mutation

Adult-onset distal myopathy due to VCP mutation is a rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles.


retinitis pigmentosa 12

Any retinitis pigmentosa in which the cause of the disease is a mutation in the CRB1 gene.


congenital disorder of glycosylation type I

A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor.


secondary trimethylaminuria

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


immunodeficiency 19

Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD3D gene.


North Carolina macular dystrophy

North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination.


9q21.13 microdeletion syndrome

A rare, genetic, intellectual disability malformation syndrome characterized by global developmental delay, intellectual disability, delayed speech and language development, epilepsy, autistic behavior, and moderate facial dysmorphism (including elongated face, narrow forehead, arched eyebrows, horizontal palpebral fissures, hypertelorism, epicanthus, midface flattening, short nose, long and featureless philtrum, thin upper lip, macrostomia, and prominent chin). Additional variable manifestations include microcephaly, hypotonia, hypertrichosis, and strabismus.


fibrosarcomatous osteosarcoma

A conventional osteosarcoma characterized by the presence of spindle shaped cells.


intellectual disability, X-linked syndromic, Turner type

An X-linked syndromic intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant.


Langerhans cell sarcoma

A neoplastic proliferation of Langerhans cells with overtly malignant cytologic features. It can be considered a higher grade variant of Langerhans cell histiocytosis (LCH) and it can present de novo or progress from antecedent LCH. (WHO, 2001)


pigmented spindle cell nevus

A benign, small and slightly elevated brown or black skin lesion with usually well-demarcated borders. It is characterized by the presence of a melanocytic proliferation resulting in the formation of uniform cellular nests. Sometimes the clinical and morphologic features may be difficult to distinguish from melanoma.


pyruvate metabolism disorder

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


congenital pulmonary lymphangiectasia

Congenital pulmonary lymphangiectasia (PL) is a rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation.


Say-Barber-Miller syndrome

Say-Barber-Miller syndrome is characterized by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation.


congenital disorder of glycosylation, type Iw, autosomal dominant


progressive scapulohumeroperoneal distal myopathy


screw worm infectious disease

Infection with larvae of the blow fly Cochliomyia hominivorax (Callitroga americanum), a common cause of disease in livestock in the southern and southwestern U.S.A.


radioulnar synostosis-developmental delay-hypotonia syndrome

Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears).


autosomal anomaly

Chromosomal disorder in which the chromosomal anomaly involves an autosome.


inherited neurodegenerative disorder

An inherited disorder characterized by progressive degeneration and atrophy of the nervous system.


IVIC syndrome

IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss.


respiratory system benign neoplasm

A benign neoplasm that involves the respiratory system.


split hand-foot malformation 2

A split-hand/foot malformation that has material basis in variation in the chromosome region Xq26.


methylcobalamin deficiency type cblE

An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia.


superficial Fibromatosis

A poorly circumscribed, intermediate fibrocytic neoplasm arising from the superficial soft tissues. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern.


neurodevelopmental disorder with seizures and gingival overgrowth


developmental and epileptic encephalopathy, 71


choroidal dystrophy, central areolar, 1

Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene.


trochlear nerve disorder

A disease involving the trochlear nerve.


neurotic depression

A term used for any state of depression that is not psychotic.


ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive


epilepsy, early-onset, vitamin B6-dependent


Morvan syndrome

Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases.


atrial conduction disease

Atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted.


osteosclerotic plasma cell myeloma

A plasma cell neoplasm associated with osteosclerotic and fibrotic changes in the bone trabeculae. Often, the lymph nodes show changes resembling the plasma cell variant of Castleman disease. It is often part of POEMS syndrome which is characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes.


Angelman syndrome due to maternal 15q11q13 deletion


disorder of polyamine metabolism

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


Aicardi-Goutieres syndrome

Aicardi-Goutieres syndrome (AGS) is an inherited, subacute encephalopathy characterized by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis.