Leber congenital amaurosis 11

Any Leber congenital amaurosis in which the cause of the disease is a mutation in the IMPDH1 gene.


medulloadrenal hyperfunction

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isolated Dandy-Walker malformation with hydrocephalus


posterior corneal dystrophy

Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy.


lissencephaly with cerebellar hypoplasia type A

Lissencephaly with cerebellar hypoplasia type A (LCHa) is a form of lissencephaly with cerebellar hypoplasia that encompasses classical lissencephaly with thickened cortical gray matter with either no discernable gradient, a gradient with posterior predominance, or a gradient with anterior predominance, and cerebellar vermis hypoplasia.


cutaneous leishmaniasis

Leishmaniasis affecting the skin. It is the most common form of leishmaniasis. It presents with erythematous macules and papules, and nodules which may eventually ulcerate. The lesions appear in the bite site in the exposed skin areas.


chorea gravidarum

A rare movement disorder developed during pregnancy, characterized by involuntary jerky motion (chorea) and inability to maintain stable position of body parts (athetosis). rheumatic fever and collagen vascular disorders are frequently associated with this disease. Chorea may vary from mild to severe and occurs in approximately 1 per 2,000 to 3,000 pregnancies. (From Md Med J 1997 Sep;46(8):436-9)


short-rib thoracic dysplasia 9 with or without polydactyly

An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13.


central nervous system organ benign neoplasm

A benign neoplasm that involves the central nervous system.


blue diaper syndrome

Blue Diaper syndrome is a hereditary metabolic disorder characterized by hypercalcaemia with nephrocalcinosis and indicanuria.


hypomyelinating leukodystrophy 11

Any leukodystrophy in which the cause of the disease is a mutation in the POLR1C gene.


primary thrombocytopenia

Evidence of other primary thrombocytopenia not specified elsewhere.


polycystic kidney disease 5

Any polycystic kidney disease in which the cause of the disease is a mutation in the DZIP1L gene.


spirillary rat-bite fever

Spirillary rat-bite fever (RBF), also known as Sodoku (Japanese for so: rat and doku: poison), is caused by the gram-negative bacillus Spirillum minus and is transmitted to humans through the bites and scratches of rats. The disease is mostly present in Asia.


mitochondrial complex 4 deficiency, nuclear type 10


neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment


sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis


dentigerous cyst

Most common follicular odontogenic cyst. Occurs in relation to a partially erupted or unerupted tooth with at least the crown of the tooth to which the cyst is attached protruding into the cystic cavity. May give rise to an ameloblastoma and, in rare instances, undergo malignant transformation.


early-onset generalized limb-onset dystonia

A rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body.


developmental and epileptic encephalopathy 100


partial bilateral aplasia of the mullerian ducts


dropped head syndrome

A spinal disease that is characterized by severe kyphotic deformity of the cervicothoracic spine and by severe weakness of the cervical paraspinal muscles that results in the passively correctable chin-on-chest deformity. This syndrome is defined by weakness of neck extensor muscles against gravity with or without weakness of neck flexor muscles.


neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia


idiopathic steroid-sensitive nephrotic syndrome

Steroid-sensitive nephrotic syndrome (SSNS) is a kidney disease defined by selective proteinuria, hypoalbuminaemia and, on renal biopsy, minimal changes without immunoglobulin deposits.


combined immunodeficiency due to OX40 deficiency

Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma.


combined oxidative phosphorylation deficiency 56


persistent Mullerian duct syndrome

Persistent Mullerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys.


RIDDLE syndrome

An autosomal recessive disease characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature that has material basis in homozygous or compound heterozygous mutation in the RNF168 gene on chromosome 3q29.


Meacham syndrome

Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations.


microphthalmia, isolated, with coloboma

A developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.


pontocerebellar hypoplasia type 10

Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the CLP1 gene.


acute myeloid leukemia, t(8;21)(q22; q22.1)

An acute myeloid leukemia associated with t(8;21)(q22;q22) resulting in RUNX1-RUNX1T1 fusion protein expression. The bone marrow and the peripheral blood show large myeloblasts with abundant basophilic cytoplasm, often containing azurophilic granules.


active tuberculosis

Tuberculosis caused by primary infection of or reactivation of latent Mycobacterium tuberculosis. Active tuberculosis characterized by clinical manifestation and active symptoms compatible with tuberculosis, and is distinct from latent tuberculosis infection that occurs without signs or symptoms of active disease.


limited systemic sclerosis

Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc) characterized by organ involvement in the absence of fibrosis of the skin.


extraskeletal myxoid chondrosarcoma

A rare malignant soft tissue neoplasm of uncertain differentiation, characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern. The most common sites of involvement are the deep soft tissues of the extremities, particularly the thigh. It usually presents as an enlarging soft tissue mass. Patients may have long survivals, but local recurrences and metastases occur in approximately half of the cases. The most common site of metastasis is the lungs.


Pontiac fever

Pontiac fever (PF) is a mild form of legionellosis manifesting with flu-like symptoms such as nausea, myalgia, fever, cough and headache but without pneumonia.


cervical adenomyoma

A rare, benign, usually polypoid neoplasm that arises from the cervix. It is characterized by the presence of a glandular component and a smooth muscle cell component. Variants include the endocervical type, endometrial type, and atypical polypoid adenomyoma.


catecholaminergic polymorphic ventricular tachycardia 3

Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TECRL gene.


transient arthritis

Arthritis that is not permanent.


hemolytic disease of fetus and newborn, RH-induced


autosomal dominant limb-girdle muscular dystrophy type 1H

Autosomal dominant limb-girdle muscular dystrophy type 1H (LGMD1H) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by slowly progressive proximal muscular weakness initially affecting the lower limbs (and later involving the upper limbs), hypotrophy of upper and lower limb-girdle muscles, hyporeflexia, calf hypertrophy, and increased serum creatine kinase. There is no involvement of oculo-facial-bulbar muscles and cardiac muscle.


mixed gonadal dysgenesis

A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,xx; 45,X/46,xx/47,xxx; 46,xxp-; 45,X/46,xy; 45,X/47,xyy; 46,xypi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,xx or 46,xy constitution.


tricuspid valve disorder

A disease involving the tricuspid valve.


swine disease

Diseases of domestic swine and of the wild boar of the genus Sus.


SRD5A3-congenital disorder of glycosylation

A rare, non X-linked congenital disorder of gyclosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation.


retroperitoneal inflammatory myofibroblastic tumor

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


distal trisomy 10q

Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay.


pharyngoconjunctival fever

A condition characterized by fever, conjunctivitis, and pharyngitis resulting from infection by adenovirus.


inborn disorder of tryptophan metabolism

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


retinitis pigmentosa 60

Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF6 gene.


kwashiorkor

A syndrome produced by severe protein deficiency, characterized by retarded growth, changes in skin and hair pigment, edema, and pathologic changes in the liver, including fatty infiltration, necrosis, and fibrosis. The word is a local name in Gold Coast, Africa, meaning 'displaced child'. Although first reported from Africa, kwashiorkor is now known throughout the world, but mainly in the tropics and subtropics. It is considered to be related to marasmus. (From Dorland, 27th ed)


developmental and epileptic encephalopathy 107

An autosomal recessive form of early infantile epileptic encephalopathy, caused by mutation(s) in the NAPB gene, encoding beta-soluble NSF attachment protein.


congenital ectropion uveae

Congenital ectropion uveae is a rare, genetic, non-syndromic developmental defect of the eye characterized by the presence of iris pigment epithelium on the anterior surface of the iris, anterior insertion of the iris, angle dysgenesis and progressive open-angle glaucoma (the latter may present in infancy or may develop later in life). Patients may manifest with headaches, ocular pain, photophobia, and redness, watering and/or swelling of the eye. It can often be associated with neurofibromatosis and less commonly with other ocular abnormalities.


delta-heavy chain disease

A heavy chain disease that results from an overproduction of delta antibody (IgD).


sporadic idiopathic steroid-resistant nephrotic syndrome

Steroid-resistant, sporadic idiopathic nephrotic syndrome, is a heterogeneous entity. Nephrotic syndrome is characterized by marked proteinuria, with reduced plasmatic levels of albumin, and potentially with edema.


intellectual disability, X-linked, with panhypopituitarism


intellectual developmental disorder with dysmorphic facies and ptosis


cardiac tuberculosis

Pathological conditions of the cardiovascular system caused by infection of mycobacterium tuberculosis. Tuberculosis involvement may include the heart; the blood vessels; or the pericardium.


neurodevelopmental disorder with speech impairment and dysmorphic facies


bladder sarcoma

A malignant mesenchymal cell neoplasm that affects the urinary bladder.


peritoneal benign neoplasm

A non-metastasizing neoplasm that arises from the peritoneal cavity. Representative examples include adenomatoid tumor and disseminated peritoneal leiomyomatosis.


radiation cystitis

Inflammation of the bladder due to irradiation.


bone leiomyosarcoma

A rare aggressive malignant smooth muscle neoplasm, arising from the bone. It is characterized by a proliferation of neoplastic spindle cells.


malignant childhood germ cell neoplasm

A malignant germ cell tumor that occurs during childhood.


mesomelic dysplasia-digital anomalies-intellectual disability syndrome


dyskeratosis congenita, autosomal recessive 5

A dyskeratosis congenita that has material basis in an autosomal dominant mutation of RTEL1 on chromosome 20q13.33.


congenital muscular dystrophy with intellectual disability


X-linked nonsyndromic hearing loss

X-linked form of nonsyndromic deafness.


primordial dwarfism and slender bone disorder

A skeletal dysplsia characterized by primordial dwarfism, an extreme growth deficiency disorder that has its onset during embryonic development and persists throughout life and slender bone disorder, a heterogeneous group of neonatal dwarfism syndromes, usually of unknown etiology, associated with gracile (thin) bones, multiple fractures, and prenatal or early postnatal death.


benign neoplasm of floor of mouth

A benign neoplasm that involves the mouth floor.


intellectual disability, autosomal dominant 45


autosomal recessive syndromic cerebellar ataxia


chromosome 20 trisomy

Chromosome 20 trisomy, (also called trisomy 20) is a condition in which a fetus or individual has an extra full or partial copy of chromosome 20 in some or allof of his/her cells. An extra full copy of chromosome 20 in all of a person's cells is rare, and almost all fetuses with this do not survive past the first trimester ofpregnancy. The presence of an extra copyof only part of chromosome 20 is called partial trisomy 20; and an extra copy of chromosome 20 in only some of a person's cells is called mosaic trisomy 20. Mosaic trisomy 20 is the most common type of chromosome 20 trisomy and is one of the more common chromosomal abnormalities found during prenatal diagnostic testing. Studies have shown that the child is normal in the vast majority of prenatally diagnosed individuals. However, features that have been reported include spinal abnormalities (including spinal stenosis, vertebral fusion, and kyphosis), hypotonia (decreased muscle tone), life long constipation, sloped shoulders, and significant learning disabilities despite normal intelligence. Trisomy 20 usually results from an error that occurs when an egg or sperm cell develops (before fertilization); mosaic trisomy 20 usually results from errors in cell division soon after fertilization.


trichostrongylosis

Infestation with nematode worms of the genus trichostrongylus. Humans become infected by swallowing larvae, usually with contaminated food or drink, although the larvae may penetrate human skin.


Kashin-Beck disease

Disabling osteochondrodysplasia with osteosclerosis, cone-shaped metaphysis, and shortening of the diaphysis. It is endemic in parts of Siberia and northern China. Mineral deficiencies (e.g., selenium, iodine), fungal cereal contamination, and water contamination may be contributing factors in its etiology.


idiopathic mast cell activation syndrome

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


left superior vena cava persisting to left-sided atrium


fungal infection of eye

Infection by a variety of fungi, usually through four possible mechanisms: superficial infection producing conjunctivitis, keratitis, or lacrimal obstruction; extension of infection from neighboring structures - skin, paranasal sinuses, nasopharynx; direct introduction during surgery or accidental penetrating trauma; or via the blood or lymphatic routes in patients with underlying mycoses.


developmental and epileptic encephalopathy, 17

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GNAO1 gene.


amelogenesis imperfecta hypomaturation type 2A4

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


inherited ichthyosis

Mendelian disorders of cornification affecting all or most of integument characterized by hyperkeratosis and/or scaling, caused by an inherited modification of the individual's genome.


Pseudomonas aeruginosa PA14 infection

A Pseudomonas aeruginosa PA14 infection is a Pseudomonas infection of strain PA14.


reticulum cell sarcoma

An antiquated term that refers to a non-Hodgkin lymphoma composed of diffuse infiltrates of large, often anaplastic lymphocytes.


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11

Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the B3GALNT2 gene.


auditory neuropathy

A hearing disorder characterized by impaired transmission of signals through the auditory nerve, resulting in mild to severe hearing loss and poor speech perception.


osteonecrosis of genetic origin

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


nasal glial heterotopia

Nasal glial heterotopia is a rare developmental abnormality presenting usually at birth or in early childhood (rarely in adulthood) as a benign, non-pulsatile mass that can lead to nasal obstruction, deformation of the septum and nasal bone, and respiratory distress if untreated. Nasal glial heterotopias have no communication with the central nervous system; however an associated defect in the cribriform plate is sometimes reported.


spondyloepiphyseal dysplasia with congenital joint dislocations

CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.


lipoma of spermatic cord

A benign adipose tissue neoplasm of the spermatic cord. This is the most common tumor amongst the benign paratesticular lesions.


Imerslund-Grasbeck syndrome type 1

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


opsismodysplasia

Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.


nebulin-related early-onset distal myopathy


multiple synostoses syndrome 2

Any multiple synostoses syndrome in which the cause of the disease is a mutation in the GDF5 gene.


multiple epiphyseal dysplasia type 1

Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.


parachute tricuspid valve

Parachute tricuspid valve is a rare congenital heart malformation defined as an insertion of the chordal apparatus into a single papillary muscle or a muscle group, making a pathognomonic 'pear' shape sign in the four-chamber echocardiographic view with the atrium forming the larger base of the pear and the leaflets the apex. Isolated parachute tricuspid valve may be asymptomatic or present with symptoms of tricuspid stenosis (diastolic inspiratory murmur, pulsation of jugular veins, hepatomegaly, edema, epigastric discomfort, right atrial enlargement, right ventricular hypertrophy, electrocardiography abnormalities). It may also be associated with other heart malformations and present with symptoms of the complex of malformations.


adult-onset Still disease

A rare inflammatory multisystem disorder characterized clinically by fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash.


endometrial polyp

A benign nodular lesion protruding above the surface of the endometrium. It is composed of a fibrous stroma that contains thick-walled blood vessels and dilated endometrial glands. Polypectomy is the treatment of choice. Only few cases with recurrence have been reported.


intellectual disability, autosomal dominant 22

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZBTB18 gene.


acute neonatal citrullinemia type I

Acute neonatal citrullinemia type I is a severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits.


lipoblastoma

A lipoma usually occurring in the extremities of young children (usually boys). It is characterized by lobules of adipose tissue, separated by fibrous septa. The adipose tissue is composed of mature adipocytes and lipoblasts. The lipoblasts may be scarce, depending on the age of the patient.


scleromyxedema

Scleromyxedema is a rare, severe skin disorder. Signs and symptoms include abnormal accumulation of mucin in the skin (mucinosis), causing papular and sclerodermoid bumps; increased production of fibroblasts (connective tissue cells) in the absence of a thyroid disorder; and monoclonal gammopathy (abnormal proteins in the blood). It often involves internal organs and may affect various body systems. The cause of scleromyxedema is not known. There is no standard treatment. Management may involve the use of intravenous immunoglobulin (IVIG), plasmapheresis, thalidomide and corticoids, or more aggressive interventions, such as autologous bone marrow transplantation.


cardiac ventricle disorder

A disease or disorder that involves the cardiac ventricle.


tetrasomy 18p

Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations.


syndrome caused by partial chromosomal duplication of the short arm of chromosome 9


generalized epilepsy with febrile seizures plus, type 8


hip dysplasia, Beukes type

Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develops in childhood and that progresses to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing.


congenital erosive and vesicular dermatosis


neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction


ALECT2 amyloidosis

A rare, systemic amyloidosis characterized by slowly progressive renal disease presenting with proteinuria, hypertension and decreased glomerular filtration rate leading to progressive renal failure. Histology reveals amyloid deposits of leukocyte chemotactic factor-2 protein in the renal cortical interstitium, tubular basement membranes, glomeruli and the vessel walls. Extra-renal deposits can be seen in the liver, lungs, spleen and adrenal glands.


primary cutaneous CD30+ T-cell lymphoproliferative disease


lichen planus, familial

An instance of lichen planus that is caused by an inherited modification of the individual's genome.


catecholaminergic polymorphic ventricular tachycardia 5

Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TRDN gene.


group B streptococcal infection

A disease caused by infection with Group B Streptococcus.


autosomal recessive nonsyndromic hearing loss 76

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SYNE4 gene.


hemochromatosis type 2B

Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HAMP gene.


Troyer syndrome

Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.


qualitative or quantitative defects of protein SERCA1


developmental and epileptic encephalopathy, 54


congenital anomaly of superior vena cava


atrichia with papular lesions

Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities.


progressive supranuclear palsy-corticobasal syndrome

PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease.


neonatal hemochromatosis

Neonatal hemochromatosis is a disease in which too much iron builds up inthe body. In this form of hemochromatosis the iron overload begins before birth. This disease tends to progress rapidly and is characterized by liver damage that is apparent at birth or in the first day of life. There are a number of other forms of hemochromatosis. To learn more about these other forms click on the disease names listed below: Hemochromatosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4


autosomal dominant proximal renal tubular acidosis

Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications.


motor neuron disease with dementia and ophthalmoplegia


congenital primary megaureter, refluxing form


cataract 14 multiple types

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the GJA3 gene.


neuronal ceroid lipofuscinosis 2

A condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.


GNAT2-related retinopathy

An inherited retinopathy caused by bi-allelic variants in the GNAT2 gene.


laryngeal neuroendocrine neoplasm

A benign or malignant neoplasm with neuroendocrine differentiation that arises from the larynx. This category includes paraganglioma, carcinoid tumor, small cell carcinoma, and large cell neuroendocrine carcinoma.


autoimmune pulmonary disease due to PD-1 deficiency

An autoimmune disease that is characterized by a lack of PD-1 on patient peripheral blood mononuclear cells (PBMCs) and reduced IFN production in response to mycobacterial stimuli.


intellectual disability-hypotonic facies syndrome, X-linked, 1

A group of X-linked syndromes characterized by severe intellectual deficit and facial dysmorphism, with variable other features.


ferro-cerebro-cutaneous syndrome

Ferro-cerebro-cutaneous syndrome is a rare, genetic, metabolic liver disease characterized by progressive neurodegeneration, cutaneous abnormalities, including varying degrees of ichthyosis or seborrheic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations, including microdontia, widely spaced and pointed teeth with delayed eruption, and gingival overgrowth.


qualitative or quantitative defects of dysferlin


neoplasm of immature B and T cells

A neoplasm arising from immature B and T cells


miliaria pustulosa

A miliaria that is characterized by pustules resulting from inflammation and bacterial infection.


grade II lymphomatoid granulomatosis

A lymphomatoid granulomatosis that is characterized by the presence of occasional large lymphoid cells or immunoblasts in a polymorphous background. Necrosis is more commonly seen as compared to grade I lymphomatoid granulomatosis. By in situ hybridization, EBV-positive cells are readily seen.


childhood kidney neoplasm

A kidney neoplasm that occurs during childhood.


8p23.1 microdeletion syndrome

8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.


posterior foramen magnum meningioma

A meningioma that affects the posterior foramen magnum.


cerebral hemisphere lipoma

A rare benign adipose tissue neoplasm within the cerebral hemisphere often associated with partial or complete agenesis of the corpus callosum.


dysosteosclerosis

Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly.


vascular disorder of penis

A non-neoplastic or neoplastic disorder that affects the blood vessels of the penis. Representative examples include atherosclerosis, venous leak, and hemangioma.


amyotrophic lateral sclerosis type 8

Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VAPB gene.


retinitis pigmentosa 4

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


central areolar choroidal dystrophy

A hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the center of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity.


schizotypal personality disorder

A disorder characterized by an enduring pattern of inability to establish close relationships coupled with cognitive or perceptual distortions, odd beliefs and speech, and eccentric behavior and appearance.


corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

A developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.


brachydactyly-syndactyly syndrome

Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common.


Huntington disease-like 2

Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes characterized by a triad of movement, psychiatric, and cognitive abnormalities.


ectodermal dysplasia 4, hair/nail type

Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT85 gene.


hyperparathyroidism 4

Any familial isolated hyperparathyroidism in which the cause of the disease is a mutation in the GCM2 gene.


glossopharyngeal nerve paralysis

Paralysis of the glossopharyngeal nerve.


autosomal dominant nonsyndromic hearing loss 3B

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene.


urinary system neoplasm

A benign or malignant, primary or metastatic neoplasm involving the urinary system. --2003


cono-spondylar dysplasia

Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (incl. long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies.


vesiculitis

An inflammatory disease involving a pathogenic inflammatory response in the seminal vesicle.


protothecosis

A disease caused by infection with achlorophyllic algae of the genus Prototheca, the majority caused by the species P. wickerhamii. Clinical manifestations of reported cases have included cutaneous lesions, olecranon bursitis, or systemic involvement.


combined oxidative phosphorylation deficiency 39


louse-borne relapsing fever

An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected lice; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated.


neurodevelopmental disorder with dysmorphic facies and thin corpus callosum


mitochondrial complex 1 deficiency, nuclear type 32


mitochondrial oxidative phosphorylation disorder


juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome


acute posterior multifocal placoid pigment epitheliopathy

Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) is an acquired, inflammatory eye condition affecting the retina, retinal pigment epithelium (pigmented layer of the retina), and choroid. It usually affects both eyes and is characterized by multiple, yellow-white lesions in the back of the eye. The condition can significantly impair visual acuity if the macula is involved. APMPPE typically resolves on its own in weeks to months. While the cause is unknown, about a third of cases appear to develop after a flu-like illness. Non-ocular symptoms are uncommon, but cerebral vasculitis can be present and may cause permanent and/or severe neurological complications.


hyperphosphatasia with intellectual disability syndrome 5

Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGW gene.


schizophrenia 2

A schizophrenia that has material basis in an autosomal dominant mutation of SCZD2 on chromosome 11q14-q21.


microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability

Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.


myofibrillar myopathy 6

Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly.


cutaneous larva migrans

Cutaneous larva migrans is a rare parasitic disease characterized by single or multiple, linear or serpinginous, erythematous, slightly elevated cutaneous tracks caused by the larval migration of various nematode species. Tracks are variable in length, generally a few millimeters wide and are frequently located on the feet (although any area of the body is possible). Patients typically present with severe, intractable pruritus, which, in some cases, may cause impaired concentration, loss of sleep, and mood disturbances.


leukodystrophy, hypomyelinating, 26, with chondrodysplasia


neuronal ceroid lipofuscinosis 5

Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes (mutations) in the CLN5 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.


autosomal dominant nonsyndromic hearing loss 15

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the POU4F3 gene.


eyelid hypopigmentation

Under-production of pigment in the eyelid.


persistent hyperplastic primary vitreous, autosomal dominant


congenital myasthenic syndrome 13

Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the DPAGT1 gene.


autosomal recessive titinopathy

Autosomal recessive form of TTN-related myopathy.


cerebral folate deficiency

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


juvenile primary lateral sclerosis

Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production.


acheiropody

Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance.


laryngeal cartilage cancer

A malignant neoplasm involving the laryngeal cartilage.


abdominal obesity-metabolic syndrome 3

Any metabolic syndrome in which the cause of the disease is a mutation in the DYRK1B gene.


congenital myasthenic syndrome 19

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the COL13A1 gene.


spinocerebellar ataxia type 31

Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the late-onset of cerebral ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties.


pediatric intraocular retinoblastoma

Retinoblastoma during childhood that has not spread beyond the eye.


HHV-7 infectious disease

A disease caused by infection with herpesvirus-7.


craniofrontonasal syndrome

An X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism.


hemolytic anemia due to pyrimidine 5' nucleotidase deficiency

Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported.


mixed cell type kidney Wilms' tumor

Wilms tumor of the kidney characterized by the presence of blastema, epithelial, and mesenchymal components (triphasic pattern) or a combination of two of them (biphasic pattern).


idiopathic disseminated cytomegalovirus infection


atrial fibrillation, familial, 18

Any familial atrial fibrillation in which the cause of the disease is a mutation in the MYL4 gene.


disorder of glycogen metabolism

An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues.


20q13.33 microdeletion syndrome

20q13.33 is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated.


syndromic X-linked intellectual disability Abidi type

X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations.


Richieri Costa-Pereira syndrome

Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive.


Bartholin gland benign neoplasm

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


ataxia-telangiectasia-like disorder 1

Any ataxia-telangiectasia-like disorder in which the cause of the disease is a mutation in the MRE11 gene.


granulosa cell tumor

A slow-growing, malignant tumor, characterize by the presence of granulosa-like cells and Call-Exner bodies, that is almost always found in the ovary. In rare cases, it has also been found in the testicle. There are two types of granulosa cell tumor that can be distinguished under the microscope: the adult and the juvenile. The testicular juvenile granulosa cell tumors are perhaps the most common congenital testicular neoplasms.


atrophy of thyroid

Tissue degeneration and diminished size of the thyroid gland.


tarsal-carpal coalition syndrome

Tarsal-carpal coalition syndrome is characterized by fusion of the carpals, tarsals, and phalanges.


cystic partially differentiated nephroblastoma

A variant of Wilms tumor of the kidney characterized by the presence of cystic spaces separated by septa. The septa contain immature epithelial cells, immature stromal cells, and blastema cells. Surgical resection is usually curative.


Pelizaeus-Merzbacher-like disease

Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD).


hereditary angioedema type 1

Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.


Gerstmann syndrome

Gerstmann syndrome is a very rare neurological disorder characterized by the specific association of acalculia, finger agnosia, left-right disorientation, and agraphia, which is supposed to be secondary to a focal subcortical white matter damage in the parietal lobe.


autosomal dominant nocturnal frontal lobe epilepsy 2

An autosomal dominant nocturnal frontal lobe epilepsy that has material basis in variation in the chromosome region 15q24.


porencephaly 2

Any porencephaly in which the cause of the disease is a mutation in the COL4A2 gene.


progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome


AIDS related complex

A prodromal phase of infection with the human immunodeficiency virus (HIV). Laboratory criteria separating aids-related complex (ARC) from aids include elevated or hyperactive B-cell humoral immune responses, compared to depressed or normal antibody reactivity in aids; follicular or mixed hyperplasia in arc lymph nodes, leading to lymphocyte degeneration and depletion more typical of aids; evolving succession of histopathological lesions such as localization of Kaposi's sarcoma, signaling the transition to the full-blown aids.


familial meningioma

A meningioma that is transmitted from the parents to an offspring.


phalanx chondroma

A chondroma that involves the phalanx.


Alzheimer disease 6

An Alzheimer's disease that is characterized by an associated with variation in the region 10q24.


spinocerebellar ataxia type 19/22

Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor.


mucopolysaccharidosis type 2, attenuated form

Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2, leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form by the absence of cognitive decline.


bone benign neoplasm

A neoplasm that arises from the bone or articular cartilage and does not invade adjacent tissues or metastasize to other anatomic sites.


cataract 43

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the UNC45B gene.


ITPKB deficiency

Any non-severe combined immunodeficiency in which the cause of the disease is variation in the ITPKB gene.


blue toe syndrome

A condition that is caused by recurring atheroembolism in the lower extremities. It is characterized by cyanotic discoloration of the toes, usually the first, fourth, and fifth toes. Discoloration may extend to the lateral aspect of the foot. Despite the gangrene-like appearance, blue toes may respond to conservative therapy without amputation.


polycystic kidney disease 3 with or without polycystic liver disease

Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the GANAB gene.


Niemann-Pick disease type C, adult neurologic onset


primary systemic mycosis

A systemic mycosis that arises from infection in an immunologically normal host.


free sialic acid storage disease, infantile form


gnathomiasis

An infection that is caused by nematodes of the genus Gnathostoma, which is commonly found in Southeast Asia, and which is transmitted via the consumption of contaminated raw/undercooked birds, eels, fish, frogs, or reptiles. The pattern of symptoms is species-dependent, and extraintestinal manifestations are due to larval migration (e.g., pulmonary infiltrates, eosinophilic meningitis, or painful, pruritic subcutaneous swellings, and peripheral blood eosinophilia).


nephronophthisis 11

A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1.


hereditary spastic paraplegia 23

Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.


polyp of vagina

A polyp that involves the vagina.


atrial septal defect 1

An atrial heart septal defect type 1 associated with variation in the region 5p.


intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies


subacute inflammatory demyelinating polyneuropathy

A subacute progressive symmetric sensorial and/or motor disorder characterized by muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins. SIDP is an intermediate form between Guillain-Barre syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP).


spinal muscular atrophy, type 1

A severe infantile form of proximal spinal muscular atrophy characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.


Brody myopathy

Brody myopathy is a hereditary condition that affects the skeletal muscles (muscles used for movement). Symptoms typically begin in childhood and are characterized by muscle cramping and stiffening (myopathy) after exercise or other strenuous activity. These symptoms can worsen in cold temperatures and are usually painless, however, some individuals may have mild discomfort. Some cases of Brody myopathy are caused by mutations in the ATP2A1 gene. The cause of Brody myopathy for individuals not found to have an ATP2A1 gene mutation remains unknown. Brody myopathy is usually inherited in an autosomal recessive manner with a few reported cases of autosomal dominant inheritance. While there is no one treatment for Brody myopathy, certain muscle relaxants, such as dantrolene and blood pressure medications called calcium channel blockers, such as verapamil may be useful. Some researchers suggest that individuals found to have an ATP2A1 gene mutation have a slightly different disorder in which symptoms appear at an earlier age. They use the disease term 'Brody disease' for individuals with an identifiedmutation versus 'Brody syndrome' for those that do not. More research may help clarify whether these are two different disorders or a variation of the same disorder.


autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect


dehydration polycythemia

Polycythemia resulting from dehydration.


congenital brain dysgenesis due to glutamine synthetase deficiency


limb-mammary syndrome

Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias.


conventional angiosarcoma

An angiosarcoma characterized by the presence of malignant spindle endothelial cells.


retrocochlear disease

Pathological processes involving the vestibulocochlear nerve; brainstem; or central nervous system. When hearing loss is due to retrocochlear pathology, it is called retrocochlear hearing loss.


combined oxidative phosphorylation deficiency 38


cowpox

A mild, eruptive skin disease of milk cows caused by cowpox virus, with lesions occurring principally on the udder and teats. Human infection may occur while milking an infected animal.


qualitative platelet defect

A group of conditions characterized by impaired platelet function, which may be suggested by clinical evidence of bleeding in the setting of a normal platelet count.


rheumatoid nodulosis

A particular variant of polyarthritis associated with early manifestations of palindromic rheumatism, radiologic subchondral bone cysts, and subcutaneous rheumatoid nodules.


pontocerebellar hypoplasia type 2D

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


malignant Sertoli cell tumor

A Sertoli cell tumor of the testis or the ovary which metastasizes to another anatomic site.


X-linked form of epidermodysplasia verruciformis.


helminthiasis

A parasitic infection characterized by the infestation with worms, mainly in the intestine.


autosomal recessive limb-girdle muscular dystrophy type 2X

Autosomal recessive limb-girdle muscular dystrophy type 2X is a rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers.


Danon disease

A lysosomal glycogen storage disease characterized by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.


local anesthetic poisoning

A poisoning that is caused by exposure to a local anesthetic.


vertebral disorder

A disease or disorder that involves the vertebra.


Thiel-Behnke corneal dystrophy

Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment.


Wolman disease

Wolman disease represents the most severe manifestation of lysosomal acid lipase deficiency. Milder phenotypes as a whole are referred to as cholesterol ester storage disease. The acid lipase enzyme plays an essential role in lysosomal hydrolysis of both esterified cholesterol and triglycerides of lipoproteic origin. In Wolman disease, the rarest form of acid lipase deficiency, these lipids accumulate in most tissues.


medulloblastoma SHH activated

A medulloblastoma that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and TP53 mutations that may be present or absent.


autosomal recessive osteopetrosis 6

Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the PLEKHM1 gene.


orofaciodigital syndrome IX

Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disk coloboma and retinal dysplasia with partial detachment).


pulmonary atresia-intact ventricular septum syndrome

Pulmonary atresia with intact ventricular septum (PA-IVS) is a rare form of cyanotic congenital heart malformation characterized by severe cyanosis and tachypnea. PA-IVS presents significant morphologic diversity: at the end of the spectrum are patients with a mildly hypoplastic and tripartite right ventricle (RV) and mild tricuspid valve (TV) hypoplasia, and at the other end are patients with severe RV and TV hypoplasia, often with RV-dependent coronary circulation.


nemaline myopathy 2

An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness.


inherited aplastic anemia

An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes leukopenia and thrombocytopenia.


X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10

Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the RXYLT1 gene.


hypogonadotropic hypogonadism-retinitis pigmentosa syndrome

This syndrome is characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa. It has been described in two sisters born to nonconsanguineous parents.


growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant


tetragametic chimerism

Tetragametic chimerism is a rare, sex chromosome disorder of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins.


Diamond-Blackfan anemia 15 with mandibulofacial dysostosis

Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS28 gene.


factor 5 excess with spontaneous thrombosis


recombinase activating gene 2 deficiency

A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.


childhood testicular neoplasm

A neoplasm that arises from the testis during childhood.


developmental and epileptic encephalopathy, 41

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC1A2 gene.


bone marrow failure syndrome 3

Any bone marrow failure syndrome in which the cause of the disease is a mutation in the DNAJC21 gene.


isolated microphthalmia 3

Any isolated microphthalmia in which the cause of the disease is a mutation in the RAX gene.


cloverleaf skull-asphyxiating thoracic dysplasia syndrome


isolated optic neuritis without anti-MOG antibodies


lymphoid neoplasm

A neoplasm composed of a lymphocytic cell population which is usually malignant (clonal) by molecular genetic and/or immunophenotypic analysis. Lymphocytic neoplasms include Hodgkin and non-Hodgkin lymphomas, acute and chronic lymphocytic leukemias, and plasma cell neoplasms.


15q overgrowth syndrome

15q overgrowth syndrome is a rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly.


A53 diffuse large B-cell lymphoma

A diffuse large B-cell lymphoma that is characterized by aneuploidy with TP53 inactivation.


severe lateral tibial bowing with short stature

Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities.


heart-hand syndrome type 2

Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation).


fusariosis

Fusariosis describes a superficial, locally invasive, disseminated infection with the pathogenic fungus species, Fusarium, often found in soil and water, which is mainly transmitted to humans through traumatic inoculation and that manifests with keratitis, onychomycosis and less frequently peritonitis and cellulitis. In the immunocompromised, disseminated fusariosis is more common and it manifests with refractory fever, skin lesions (ecthyma-like, target, and multiple subcutaneous nodules), severe myalgias and sino-pulmonary infections.


adult xanthogranuloma

A xanthogranuloma that occurs in an adult.


erythrokeratoderma

An umbrella term for a group of rare genetic skin disorders characterized by well-demarcated plaques of reddened, dry and thickened skin. Typically, these lesions are distributed symmetrically on the body and tend to slowly expand and progress over time.


congenital reticular ichthyosiform erythroderma


endometriosis of rectovaginal septum and vagina

Endometriosis that affects the vagina. It is characterized by the presence of endometrial stroma with or without endometrial-type glands in the vagina.


glossopalatine ankylosis

Glossopalatine ankylosis is a disorder belonging to the group of oromandibular-limb hypogenesis syndromes (OLHS) and is characterized by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge.


granulomatous amebic encephalitis

Granulomatous amebic encephalitis is a life-threatening infection of the brain caused by the free-living amoebae Acanthamoeba spp., Balamuthia mandrillaris and Sappinia pedata. Acanthamoeba species, are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units. The disease affects immunocompromised peple and is very serious. Symptoms include mental status changes, loss of coordination, fever, muscular weakness or partial paralysis affecting one side of the body, double vision, sensitivity to light and other neurologic problems. The diagnosis is difficult and is often made at advanced stages. Tests useful in the diagnosis include brain scans, biopsies, or spinal taps and in disseminated disease, biopsy of the involved sites and testing by the laboratory experts. Early diagnosis is important for the prognosis. No single drug is effective; hence multiple antibiotics are needed for successful treatment. A combination of surgical and medical interventions involving multiple specialty experts is required to prevent death and morbidity in survivors.


disorder of glycosylation

A disease that has its basis in the disruption of glycosylation.


intellectual disability, X-linked 104

Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FRMPD4 gene.


spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome


developmental and epileptic encephalopathy, 76

An autosomal recessive form of early infantile epileptic encephalopathy, caused by mutation(s) in the ACTL6B gene, encoding actin-like protein 6B.


retinitis pigmentosa 58

Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF513 gene.


localized lichen myxedematosus with mixed features of different subtypes

Localized lichen myxedematosus (LM) with mixed features of different subtypes is a form of atypical lichen myxedematosus, characterized by mixed features of the 5 subtypes of localized LM which are: discrete papular LM, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and nodular LM.


commissural lip fistula

A cysts and fistulae of the face and oral cavity that involves the labial commissure.


acrofacial dysostosis, Weyers type

Acrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome, an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner.


hereditary spastic paraplegia 63

An extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2.


adrenoleukodystrophy

A peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency.


hereditary night blindness

An instance of night blindness that is caused by an inherited modification of the individual's genome.


patellar tendinitis

A tendinitis that involves the patella.


autosomal recessive nonsyndromic hearing loss 59

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


combined oxidative phosphorylation deficiency 37


childhood epithelioid sarcoma

An epithelioid sarcoma occurring in childhood.


oligoasthenoteratozoospermia

A form of male infertility that is characterized by a combination of low number or oligozoospermia, poor motility or asthenozoospermia, and abnormal shape or teratozoospermia of sperms. OAT is the most common cause of male subfertility.


Sandhoff disease

Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterized by central nervous system degeneration.


infantile bilateral striatal necrosis

Several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic.


scapuloperoneal spinal muscular atrophy, autosomal dominant


pelviscapular dysplasia

Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism.


centripetalis recessive dystrophic epidermolysis bullosa

Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB), characterized by blistering which begins acrally and then progressively spreads toward the trunk.


skin creases, congenital symmetric circumferential, 2


human herpesvirus 8 infection

An infectious process caused by the human herpesvirus 8. This infection is associated with Kaposi sarcoma.


partial monosomy of the long arm of chromosome 10


epidermolysis bullosa simplex with nail dystrophy


congenital absence of both forearm and hand

Congenital absence of both forearm and hand is a rare developmental defect during embryogenesis characterized by unilateral or bilateral arrest of proximal to distal development of the upper limb, leading to a transverse deficiency with absence of the forearm, wrist and hand. A short below-the-elbow amputation is most commonly observed and the residual limb is usually well cushioned, with rudimentary nubbins or dumpling possibly found on the end.


congenital autosomal recessive small-platelet thrombocytopenia

A rare isolated constitutional thrombocytopenia characterized by neonatal onset of small-platelet thrombocytopenia with significantly increased bleeding tendency. Bleeding symptoms include petechial rash, mucosal bleeding, and heavy menstrual bleeding. Growth and development are normal, and there is no increased susceptibility to infections.


FOXC1-related anterior segment dysgenesis

Any anterior segment dysgenesis in which the cause of the disease is a mutation in the FOXC1 gene.


autosomal recessive congenital ichthyosis 9

Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CERS3 gene.


hereditary angioedema with C1Inh deficiency

Forms of hereditary angioedema that occur due to mutations in the gene for complement C1 inhibitor protein. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein.


wooly hair nevus

Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occassionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi.


encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1


Tay-Sachs disease, b variant, infantile form


Charcot-Marie-Tooth disease type 1B

A sensorineural peripheral polyneuropathy affecting approximately 1 in 2,500 individuals, and is the most common inherited disorder of the peripheral nervous system. Autosomal dominant, autosomal recessive, and X-linked forms have been recognized.


intellectual disability, autosomal dominant 54


melanoma, malignant familial intraocular


time agnosia

An agnosia that is a loss of the ability to comprehend the succession and duration of events.


renal tubular dysgenesis of genetic origin

An instance of renal tubular dysgenesis that is caused by a modification of the individual's genome.


congenital factor XIII deficiency

Congenital factor XIII deficiency is an inherited bleeding disorder due to reduced levels and activity of factor XIII (FXIII) and characterized by hemorrhagic diathesis frequently associated with spontaneous abortions and defective wound healing. Factor XIII deficiency is one of the most rare coagulation factor deficiencies.


semantic dementia

Semantic dementia (SD) is a form of frontotemporal dementia (FTD), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes.


familial osteosclerosis

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


cranioectodermal dysplasia 2

Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the WDR35 gene.


postsynaptic congenital myasthenic syndrome


uterine adnexa cancer

Evidence of a malignant neoplasm of the uterine adnexa.


toxic or drug-related embryofetopathy

Congenital abnormalities caused by medicinal substances or drugs of abuse given to or taken by the mother, or to which she is inadvertently exposed during the manufacture of such substances. The concept excludes abnormalities resulting from exposure to non-medicinal chemicals in the environment.


deficiency in anterior pituitary function - variable immunodeficiency syndrome


chromosome 15q11.2 deletion syndrome

15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia).


non-spherocytic hemolytic anemia due to hexokinase deficiency

Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare conditionmainly characterized by severe, chronic hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe. Some affected individuals reportedly have had various abnormalities in addition to NSHA including multiple malformations, panmyelopathy, and latent diabetes.Itcan be caused by mutations in the HK1 gene and is inherited in an autosomal recessive manner. Treatment may include red cell transfusions for those with severe anemia.


Charcot-Marie-Tooth disease axonal type 2CC

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


alternariosis

Opportunistic fungal infection by a member of Alternaria genus.


seasonal affective disorder

A syndrome characterized by depressions that recur annually at the same time each year, usually during the winter months. Other symptoms include anxiety, irritability, decreased energy, increased appetite (carbohydrate cravings), increased duration of sleep, and weight gain. sad (seasonal affective disorder) can be treated by daily exposure to bright artificial lights (phototherapy), during the season of recurrence.


Charcot-Marie-Tooth disease type 1

Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity.


lip herpes simplex type 1 infectious disorder

Any herpes simplex type 1 infectious disease that involves the lip. This virus usually responsible for cold sores (herpes labialis).


demyelinating disease of central nervous system

Any condition in which there is degeneration of the myelin sheath that covers the nerves of the central nervous system.


skeletal tuberculosis

Tuberculosis of the bones or joints.


tarsal kink syndrome

Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery.


adult polyglucosan body disease

Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia.


childhood encephalopathy due to thiamine pyrophosphokinase deficiency


hypotrichosis 6

Any hypotrichosis in which the cause of the disease is a mutation in the DSG4 gene.


vulvar leiomyoma

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


myopathy caused by variation in POMGNT2

Any myopathy in which the cause of the disease is a variation in the POMGNT2 gene.


orofaciodigital syndrome type 14

Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated.


valine metabolism disease

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


notochordal tumor

A bone tumor arising from the remnants of the fetal notochord. This category includes the chordoma and benign notochordal cell tumor.


therapy-related myeloid neoplasm

Acute myeloid leukemias, myelodysplastic syndromes, and myelodysplastic/myeloproliferative neoplasms arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders.


Aicardi-Goutieres syndrome 6

Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the ADAR gene.


Braddock syndrome

Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect.


autosomal recessive optic atrophy, OPA7 type


ocular onchocerciasis

Onchocerciasis affecting the eye.


myopathy, tubular aggregate, 2

Any tubular aggregate myopathy in which the cause of the disease is a mutation in the ORAI1 gene.


hereditary spastic paraplegia 33

Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ZFYVE27 gene.


ciliary body disorder

A disease involving the ciliary body.


diaphragmatic hernia 4, with cardiovascular defects


ALG8-congenital disorder of glycosylation

A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.


bone chondrosarcoma

A chondrosarcoma (disease) that involves the bone tissue.


southeast Asian ovalocytosis

Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones.


transgrediens et progrediens palmoplantar keratoderma


Charcot-Marie-Tooth disease recessive intermediate A

Autosomal recessive intermediate Charcot-Marie-Tooth disease type A is a subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology.


familial developmental dysphasia

Familial developmental dysphasia is a severe form of developmental verbal apraxia characterized by a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters, and comprehension delay. Hearing and intelligence are normal.


retinitis pigmentosa 73

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


multiple synostoses syndrome 3

Any multiple synostoses syndrome in which the cause of the disease is a mutation in the FGF9 gene.


Acromicric dysplasia

A rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.


rifampicin-resistant tuberculosis

A form of drug-resistant tuberculosis that is resisant to rifampicin with or without resistance to other antitubercular medications.


epilepsy, familial focal, with variable foci 2

Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL2 gene.


lymph node neoplasm

A neoplasm involving a lymph node.


PSPH deficiency

3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome.


follicular dendritic cell sarcoma

A neoplasm composed of spindle to ovoid cells which have morphologic and immunophenotypic characteristics of follicular dendritic cells. It affects lymph nodes and other sites including the tonsils, gastrointestinal tract, spleen, liver, soft tissues, skin, and oral cavity. It usually behaves as a low grade sarcoma. Treatment options include complete surgical removal of the tumor with or without adjuvant chemotherapy or radiotherapy. Recurrences have been reported in up to half of the cases.


cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome


tenosynovial giant cell tumor

A tumor usually arising in the synovium of joints, bursa or tendon sheath. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. According to the growth pattern, it is classified as localized or diffuse.


common peroneal nerve lesion

A peripheral nerve lesion that involves the common fibular nerve.


X-linked neurodegenerative syndrome, Hamel type

An X-linked neurodegenerative disorder characterized by intellectual deficit, blindness, convulsions, spasticity, mild hypomyelination and early death. It has been described in about ten male members from two generations of one family. The genetic defect responsible for the disorder is located in the pericentromeric region of the X chromosome, Xp11.3-q12.


autosomal dominant nonsyndromic hearing loss 52

An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31.1-q32.


B-lymphoblastic leukemia/lymphoma MLL rearranged

A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the KMT2A gene at 11q23.3 and another gene partner resulting in the production of a KMT2A related fusion protein.


germ cell benign neoplasm

A benign neoplasm that derives from germ cells.


bladder leiomyoma

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


internal carotid artery stenosis

Carotid stenosis is a narrowing or constriction of the inner surface (lumen) of the carotid artery, usually caused by atherosclerosis. The internal carotid artery supplies the brain. Plaque often builds up at that division, and causes a narrowing (stenosis). Pieces of plaque can break off and block the small arteries above in the brain, which causes a stroke. Plaque can also build up at the origin of the carotid artery at the aorta.


Marshall-Smith syndrome

Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth.


syndromic X-linked intellectual disability Shrimpton type

X-linked intellectual disability, Shrimpton type is characterized by the association of severe intellectual deficit with microcephaly, strabismus and short stature. It has been described in three boys from two unrelated families. Transmission is X-linked recessive and the causative gene has been localized to the q12-Xq21.31 region of the X-chromosome.


autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome

Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome is a rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts.


neurodegeneration with brain iron accumulation 4

Mitochondrial membrane protein-sssociated neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities.


proliferative diabetic retinopathy

Advanced retinopathy due to diabetes mellitus characterized by the formation of new vessels in the retina. The new vessels are abnormal and fragile. If hemorrhage occurs due to the vascular fragility, there is increased risk of vision loss or blindness.


combined oxidative phosphorylation defect type 14

Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the FARS2 gene.


growth hormone insensitivity syndrome with immune dysregulation


burkholderia infectious disease

Infections with bacteria of the genus Burkholderia.


diabetes insipidus, nephrogenic, autosomal


central nervous system neoplasm

A benign or malignant, primary or metastatic neoplasm that affects the brain, meninges, or spinal cord. Representative examples of primary neoplasms include astrocytoma, oligodendroglioma, ependymoma, and meningioma. Representative examples of metastatic neoplasms include carcinoma and leukemia.


A20 haploinsufficiency

Any immune dysregulation disease in which the cause of the disease is a mutation in the TNFAIP3 gene.


nasal encephalocele

Nasal encephalocele is an extracranial herniation of intracranial contents (that maintain a connection to the subarachnoid space) into the fonticulus frontalis, presenting with nasal broadening and/or as a compressible, blue, pulsatile mass near the nasal bridge (that enlarges on crying or with jugular vein compression) or as an intranasal mass originating in the cribiform plate and that can cause nasal obstruction or respiratory distress. Hydrocephalus and increased intracranial pressure are also reported in some cases.


congenital stationary night blindness 1G

A congenital stationary night blindness characterized by autosomal recessive inheritance that has material basis in homozygous mutation in the GNAT1 gene on chromosome 3p21.


primary ciliary dyskinesia 10

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF2 gene.


Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, cafe-au-lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985.


platelet-type bleeding disorder 14

Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the TBXAS1 gene.


amyotrophic lateral sclerosis type 22

Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TUBA4A gene.


congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization

A glomerular disease characterized by severe renal failure and nephrotic syndrome at birth, which rapidly improve in the first weeks of life.


qualitative or quantitative defects of TRIM32


PMP22-RAI1 contiguous gene duplication syndrome


retinitis pigmentosa 71

Any retinitis pigmentosa in which the cause of the disease is a mutation in the IFT172 gene.


polyglucosan body myopathy type 2

Any polyglucosan body myopathy in which the cause of the disease is a mutation in the GYG1 gene.


idiopathic scoliosis

A scoliosis with no known cause.


partial segmental duplication

A chromosomal disorder consisting of the partial duplication of chromosome 21.


retinitis pigmentosa 68

Any retinitis pigmentosa in which the cause of the disease is a mutation in the SLC7A14 gene.


myopathy, lactic acidosis, and sideroblastic anemia 2

Any mitochondrial myopathy and sideroblastic anemia in which the cause of the disease is a mutation in the YARS2 gene.


hypogonadotropic hypogonadism 2 with or without anosmia

Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene.


acetazolamide-responsive hereditary episodic ataxia

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


central sleep apnea due to periodic breathing


trisomy 22

Trisomy 22 is a chromosome disorder in which an extra (third) copy of chromosome 22 is present in every cell of the body where there should normally only be two copies. This condition is commonly found in miscarriages, but only rarely in liveborn infants. Most affected individuals die shortly before or shortly after birth due to severe complications. Common features include an underdeveloped midface (midface hypoplasia)with flat/broad nasal bridge, malformed ears with pits or tags, cleft palate, hypertelorism (wide-spaced eyes), microcephaly and other cranial abnormalities, congenital heart disease, genital abnormalities, and intrauterine growth restriction (IUGR).


prenatal-onset spinal muscular atrophy with congenital bone fractures


Rhabditida infectious disease

Infections with nematodes of the order rhabditida.


X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterized by slow progression of muscle weakness and unique histopathological findings.


Fox-Fordyce disease

Fox-Fordyce disease isa chronic skin diseasemost common in women aged 13-35 years.It is characterized by the development of intense itching in the underarm area, the pubic area, and around the nipple of the breast as a result of perspiration which becomes trapped in the sweat gland and surrounding areas. The cause is unknown,but heat, humidity, and stress may play a role. Treatment may include the use of retinoids, antibiotics, and immunosuppressants.


hereditary spastic paraplegia 45

Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported.


angiostrongyliasis

A foodborne zoonotic disease, endemic to Southeast Asia and the Pacific Islands, caused by the rat lungworm Angiostrongylus cantonensis and that is acquired by the ingestion of the infective larvae on vegetables or in raw or undercooked snails, slugs, land crabs, freshwater shrimps, frogs and lizards. The main feature is eosinophilic meningitis, with clinical manifestations including fever, headache, malaise, fatigue, vomiting, rhinorrhea, blurred vision, diplopia, cough, stiff neck, enteritis, constipation and paraesthesia due to the movement of the worms from the intestines to the lungs, central nervous system and eyes. In severe cases without treatment, coma and death can occur.


cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2

Any dysequilibrium syndrome in which the cause of the disease is a mutation in the WDR81 gene.


muscular dystrophy, pseudohypertrophic, with Internalized capillaries


neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures


medial condensing osteitis of the clavicle


malignant mixed neoplasm

A malignant neoplasm composed of a carcinomatous epithelial component and a sarcomatous mesenchymal component. Representative examples include malignant mixed mesodermal (Mullerian) tumor of the female reproductive system and carcinosarcoma of the salivary gland and the lung.


contagious pustular dermatitis

An infectious dermatitis of sheep and goats, affecting primarily the muzzle and lips. It is caused by a poxvirus and may be transmitted to humans.


pyruvate carboxylase deficiency, benign type

Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development.


Isolated aglossia and hypoglossia are terms covering the spectrum from partial to total absence of the tongue. These congenital malformations have been classified as part of the group of oromandibular-limb hypogenesis syndromes (OLHS).


neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies


myoclonus, familial, 1

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


mild heart failure

Heart failure characterized by mild symptoms (mild shortness of breath and/or angina) and slight limitation during ordinary activity.


benign familial infantile epilepsy

Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.


benign neoplasm of epididymis

A benign neoplasm that involves the epididymis.


childhood infratentorial neoplasm

A neoplasm that affects the infratentorial region of the brain and occurs during childhood.


severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome

An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3.


aortopulmonary coronary arterial course

Aortopulmonary coronary arterial course is a rare coronary artery congenital malformation characterized by anomalous origin of the coronary artery from the contralateral sinus of Valsalva with course between the aorta and the pulmonary artery. The anomaly is associated with increased risk of sudden cardiac death, especially during exercise.


distal 22q11.2 microduplication syndrome

Distal 22q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, hypotonia, growth retardation, velopharyngeal insufficiency, mild craniofacial dysmorphism (microcephaly, tall/broad forehead, small downslating palpebral fissures, hooded eyelids, flat nasal bridge, low posterior hairline) and digital anomalies. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, behavourial problems and seizures have also been reported.


Ehlers-Danlos syndrome, spondylodysplastic type, 2

Any Ehlers-Danlos syndrome, spondylodysplastic type in which the cause of the disease is a mutation in the B3GALT6 gene.


KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life.