neuropathy, hereditary motor and sensory, type VIc, with optic atrophy


metaphyseal dysplasia, Braun-Tinschert type

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Metaphyseal dysplasia, Braun-Tinschert type is characterized by metapyhseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions.


chondromyxoid fibroma

An uncommon benign cartilaginous neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain.


vibrio vulnificus infectious disease

An disease or disorder caused by infection with Vibrio vulnificus.


mild hyperphenylalaninemia

Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria, an inborn error of amino acid metabolism, characterized by mild symptoms of HPA.


AICA-ribosiduria

AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness.


Chuvash polycythemia

Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death.


chronic endometritis

A non-granulomatous or granulomatous chronic inflammation of the endometrium. Causes include sexually transmitted pathogens and gynecological procedures. Patients may present with irregular bleeding.


bubonic plague

A plague in which the bacteria have infected the lymphatic system.


syndromic X-linked intellectual disability Shashi type

X-linked intellectual disability, Shashi type is characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localized to the q21.3-q27 region of the X chromosome.


Brugada syndrome 1

Any Brugada syndrome in which the cause of the disease is a mutation in the SCN5A gene.


bartonellosis

An infectious disease produced by bacteria of the genus Bartonella.


developmental and epileptic encephalopathy, 51

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the MDH2 gene.


coronary arterial fistulas

Coronary arterial fistulas are a connection between one or more of the coronary arteries and a cardiac chamber or great vessel.


Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations.


elliptocytosis 1

Any hereditary elliptocytosis in which the cause of the disease is a mutation in the EPB41 gene.


hemicrania continua

Hemicrania continua (HC) is a type of primary headache disorder, which means the headache is not caused by another medical condition. Symptoms of HC include constant mild to moderate pain on one side of the head (unilateral) with periods of more intense, severe, migraine -like pain (exacerbations). These severe pain periods can last from 20 minutes to days. The frequency of exacerbations also varies greatly. The headache stays on the same side of the head and usually without pain free periods. HC is more common in women and most often starts in adulthood, but may begin anywhere from 5 to 67 years of age. Diagnosis of hemicrania continua (HC) is made by ruling out other possible causes of the pain and by clinical symptoms. During the periods of severe pain, at least one of the following symptoms must be present on same side of the body as the headache: watering or red eyes (conjunctival injection), congested or runny nose, or drooping eyelid. In addition, the headache pain must respond to treatment with indomethacin. The cause of HC is unknown. Other treatments for those who cannot tolerate long term indomethacin therapy are being studied.


A B-lymphoblastic leukemia/lymphoma that has a gene expression profile similar to that of B-ALL with t(9;22)(q34.1;q11.2) BCR-ABL1, but lacks that gene fusion.


phytanoyl-CoA hydroxylase deficiency

Any disorder of peroxisomal alpha oxidation in which the cause of the disease is a mutation in the PHYH gene.


central nervous system lipoma

A rare benign adipose tissue neoplasm of the central nervous system frequently found in midline locations such as the corpus callosum, the quadrigeminal plate, the hypothalamus, the spinal canal or the cauda equina. Some contain Schwann cells, bone, cartilage or hamartomatous blood vessels.


premature ovarian failure 12

Any primary ovarian failure in which the cause of the disease is a mutation in the SYCE1 gene.


nephronophthisis 12

Any nephronophthisis in which the cause of the disease is a mutation in the TTC21B gene.


alopecia, congenital

A congenital condition characterized by the absence of hair on the scalp or entire body. The lack of hair is rarely absolute and is usually accompanied by incompletely grown, lanugo-like hair. It affects males twice as much as females and a familial tendency is common.


Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects.


atypical hemolytic-uremic syndrome with MCP/CD46 anomaly


osteopathia striata with cranial sclerosis

Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.


peroxisome biogenesis disorder due to PEX10 defect

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX10 gene.


acquired porencephaly

An instance of porencephaly that is acquired during the lifetime of the individual.


autosomal recessive Robinow syndrome

Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia.


visceral calciphylaxis

Visceral calciphylaxis is a rare, life-threatening, non-inflammatory vasculopathy disorder characterized by diffuse precipitation of calcium in viscera (mainly in the heart or lungs, but also in the stomach or kidneys) leading to fibrosis and thrombosis, which eventually cause necrotic ulcerations of the tissue. Patients may present with dyspnea, cough and respiratory failure or acute heart block and subsequent sudden cardiac death, depending on the affected organ. The disease mainly affects patients on dialysis or patients having undergone renal transplantation.


intellectual disability, autosomal recessive 27

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LINS1 gene.


cholinergic urticaria

A type of physical urticarias (or hives) that appears when a person is sweating.


hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome

Hereditary inclusion body myopathy type 3 is characterized by congenital joint contractures (normalizing during early childhood), external ophthalmoplegia, and proximal muscle weakness. In adult cases, the muscular weakness is progressive.


prolymphocytic leukemia

A mature B- or T- cell leukemia with progressive clinical course. It is characterized by the presence of medium-sized lymphocytes with visible nucleoli (prolymphocytes) in the peripheral blood, bone marrow, and spleen.


benign neoplasm of nasopharynx

A benign neoplasm that involves the nasopharynx.


cercarial dermatitis

An unusual presentation of schistosomiasis characterized by a pruritic papular rash in the perigenital or periumbilical area due to an allergic reaction to schistosoma eggs deposited in the skin.


retinitis pigmentosa 20

Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPE65 gene.


congenital megacalycosis

Congenital megacalycosis is a rare renal malformation, characterized by non-obstructive dilation of the renal calyces as well as an increased calyceal number (12-20), with a normal renal pelvis, ureter, and bladder. It may be unilateral or bilateral and is usually asymptomatic unless complicated by nephrolithiasis and urinary tract infection.


acrocoxomesomelic dysplasia

A severe, dysmorphic condition is characterized by shortening of median and distal segments of the limbs without anomalies of the spine.


single-organ polyarteritis nodosa

Single-organ polyarteritis nodosa (PAN) is a rare, often mild form of PAN characterized by limited disease without generalized manifestations, most often affecting the skin (cutaneous PAN), the brain, eyes, pancreas, testicles, ureter, breasts, or ovaries. Affected patients are often younger than those with systemic PAN and relapses appear to be more common.


desmin-related myopathy with Mallory body-like inclusions


arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome

Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal.


amyotrophic lateral sclerosis type 4

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


acquired central diabetes insipidus

Acquired central diabetes insipidus (acquired CDI) is a subtype of central diabetes insipidus (CDI), characterized by polyuria and polydipsia, due to an idiopathic or secondary decrease in vasopressin (AVP) production.


black widow spider envenomation

Local and/or systemic toxicity resulting from a bite from a black widow spider (Latrodectus species).


hereditary disease

A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome.


congenital stenosis of the inferior vena cava


amelogenesis imperfecta type 1H

Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ITGB6 gene.


adult-onset myasthenia gravis

Acquired myasthenia gravis (MG) is an autoimmune disorder of the neuromuscular junction characterized by fatigable muscle weakness with frequent ocular signs and/or generalized muscle weakness, and occasionally associated with thymoma.


autoimmune glomerulonephritis

An autoimmune form of glomerulonephritis (disease).


complement component 6 deficiency

Any classic complement early component deficiency in which the cause of the disease is a mutation in the C6 gene.


Charcot-Marie-Tooth disease type 2B5

A rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities.


giant axonal neuropathy 2

Any giant axonal neuropathy in which the cause of the disease is a mutation in the DCAF8 gene.


hyperlysinemia due to defect in lysine transport into mitochondria


Madras motor neuron disease

Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss.


benign Leydig cell tumor

A Leydig cell tumor which does not recur or metastasize. Morphologically, there is no evidence of cellular atypia, increased mitotic activity, necrosis, or vascular invasion.


localized lipodystrophy

Localised lipodystrophies are characterized by loss of subcutaneous tissue from small regions of the body.


X-linked dyserythropoetic anemia with abnormal platelets and neutropenia


short-rib thoracic dysplasia 7 with or without polydactyly

An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1.


adrenal medullary hyperplasia

A hyperplasia that involves the adrenal medulla.


pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome

A life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.


ataxia-telangiectasia-like disorder

An autosomal recessive condition caused by mutation(s) in the MRE11A gene, encoding double-strand break repair protein MRE11. It is characterized by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia.


central nervous system leukemia

Leukemia infiltrating the central nervous system structures.


platelet-type bleeding disorder 11

Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the GP6 gene.


hereditary spastic paraplegia

Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs.


acute myeloid leukemia with minimal differentiation

An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. (WHO, 2001)


disorder of copper metabolism

An inherited metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis.


hereditary spastic paraplegia 14

A hereditary spastic paraplegia that has material basis in variation in the chromosome region 3q27-q28.


hypotrichosis 11

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


IgG4-related mesenteritis

Sclerosing mesenteritis (SM) is a rare pathological disease causing inflammation of the adipose tissue of the small bowel mesentery and is commonly associated with abdominal pain, diarrhea, nausea, weight loss, bloating and loss of appetite. The two subforms include mesenteric panniculitis (where inflammation and fatty necrosis are dominant features) and retractile mesenteritis (where fibrosis and retraction dominate).


orofaciodigital syndrome V

Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).


epidermolysis bullosa, junctional 3A, intermediate


periodic fever-infantile enterocolitis-autoinflammatory syndrome


mandibuloacral dysplasia with type A lipodystrophy

A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk.


free sialic acid storage disease

Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD).


peroxisome biogenesis disorder 5B

An autosomal recessive condition caused by mutation(s) in the PEX2 gene, encoding peroxisome biogenesis factor 2. Peroxisome biogenesis disorder 5B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.


pulmonary hypertension owing to lung disease and/or hypoxia


neuropathy, hereditary sensory and autonomic, type IId


ureteral disorder

A non-neoplastic or neoplastic disorder affecting the ureter.


dyskeratosis congenita, autosomal dominant 4


myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy


acute myeloid leukemia, Monosomy 5

Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 5. (A cytogenetic aneuploidy abnormality that refers to the presence of one chromosome 5 only. It is associated with the development of refractory anemia with excess blasts, refractory anemia with multilineage dysplasia, and refractory anemia with multilineage dysplasia and ringed sideroblasts.)


diphtheria

A Gram-positive bacterial infection caused by Corynebacterium diphtheriae. It usually involves the oral cavity, pharynx, and nasal cavity. Patients develop pseudomembranes in the affected areas and manifest signs and symptoms of an upper respiratory infection. The diphtheria toxin may cause myocarditis, polyneuritis, and other systemic effects.


combined oxidative phosphorylation deficiency 53

An autosomal recessive disorder characterized by hypomyelination, microcephaly, liver dysfunction, and recurrent hypomyelination.


anterior nasal diphtheria

Infection of the anterior nasal structures by Corynebacterium diphtheriae.


monochloroacetic acid poisoning

A poisoning that is caused by exposure to monochloroacetic acid.


pulp erosion

A tooth erosion, non-bacterial that involves the dental pulp.


spastic paraplegia 82, autosomal recessive


Bartter syndrome with hypocalcemia

Bartter syndrome with hypocalcemia is a type of Bartter syndrome characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH)


fibronectin glomerulopathy

A hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life.


benign neoplasm of cerebellum

A benign neoplasm that involves the cerebellum.


onychocytic matricoma

Onychocytic matricoma is a rare tumor of the nail that is generally benign. Affected people often experience thickening of the involved portion of the nail. The tumor may be pigmented (melanonychia - a black or brown pigmentation of the normal nail plate) or non-pigmented. The exact underlying cause of onychocytic matricoma is currently unknown. It generally occurs sporadically in people with no family history of the condition. Treatment generally consists of surgical excision.


congenitally short costocoracoid ligament

Congenital shortness of the costocoracoid ligament is a rare anomaly characterized by fixation of the scapula to the first rib, resulting in a cosmetic deformity with rounding of the shoulders and loss of the anterior clavicular contour.


Spondyloenchondrodysplasia with immune dysregulation


endotheliitis

An inflammatory disease involving a pathogenic inflammatory response in the endothelium.


central retinal vein occlusion with macular edema


epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive


ophthalmomyiasis

An myiasis caused by infection with Oestrus ovis.


dermis disorder

A disease that involves the dermis.


cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome

Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements.


centra precocious puberty 1

Any central precocious puberty in which the cause of the disease is a mutation in the KISS1R gene.


Sinding-Larsen-Johansson disease

Sinding-Larsen-Johansson disease is a type of osteochondrosis affecting the attachment of the patellar tendon to the patella and characterized by tenderness and localized swelling of the patella.


Rotor syndrome

Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology.


external auditory canal atresia-vertical talus-hypertelorism syndrome


uveal disorder

A non-neoplastic or neoplastic disorder that affects the uvea. Representative examples include uveitis, chorioretinitis, and uveal melanoma.


primary ciliary dyskinesia 30

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC151 gene.


congenital myopathy with reduced type 2 muscle fibers


supranuclear palsy, progressive, 1

Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia.


Clonal myeloid disorders that possess both dysplastic and proliferative features but are not properly classified as either MYELODYSPLASTIC SYNDROMES or MYELOPROLIFERATIVE disorderS.


dentine erosion

A tooth erosion, non-bacterial that involves the dentine.


hereditary spastic paraplegia 12

Autosomal dominant spastic paraplegia type 12 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus.


cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1

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


epidermolysis bullosa, junctional 4, intermediate


dominant beta-thalassemia

Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia.


dermatoosteolysis, Kirghizian type

Dermatoosteolysis, Kirghizian type, is characterized by recurrent skin ulceration, arthralgia, fever, peri-articular osteolysis, oligodontia and nail dystrophy. This disease has been described in five sibs in a family of Kirghizian origin (Central Asia). Three of the sibs also presented with keratitis leading to visual impairment or blindess. Transmission is autosomal recessive.


disseminated visceral giant cell angiitis

A necrotizing vasculitis characterized by widespread small-vessel giant cell angitis and extravascular granulomas.


Nevada syndrome

NEVADA (Nevus Epidermicus Verrucosus with AngioDysplasia and Aneurysms) syndrome is a rare, life-threatening, cutaneous disease characterized by a keratinocytic epidermal nevus presenting thick, hystrix-like, white or brownish hyperkeratosis associated with multiple extracutaneous vascular malformations, including angiodysplasia that involves large-vessel arteriovenous shunts that may be fatal during the neonatal period.


hypogonadotropic hypogonadism 14 with or without anosmia

Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the WDR11 gene.


hypophysitis

Inflammation of the pituitary gland.


hereditary spastic paraplegia 32

Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21.


multidrug-resistant tuberculosis

A type of drug-resistant tuberculosis that is resistant to both rifampicin and isoniazid, the two most powerful anti-TB drugs.


hypercholesterolemia, autosomal dominant, 3

Any familial hypercholesterolemia in which the cause of the disease is a mutation in the PCSK9 gene.


hereditary spastic paraplegia 36

Autosomal dominant spastic paraplegia type 36 (SPG36) is a complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy.


SIN3A-related intellectual disability syndrome due to a point mutation


nocturnal enuresis, 2

Nocturnal enuresis where the child has been dry for at least 6 months but enuresis has recurred.


microcephaly 13, primary, autosomal recessive

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


ABeta amyloidosis, Italian type

Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage.


nasal cavity and paranasal sinus lethal midline granuloma

An aggressive, progressive, and destructive lesion affecting the nasal cavities, paranasal sinuses, and the palate. The vast majority of cases are malignant lymphoproliferations affecting the midline of the face in patients with nasal type extranodal NK/T-cell lymphoma.


body dysmorphic disorder

Preoccupations with appearance or self-image causing significant distress or impairment in important areas of functioning.


developmental and epileptic encephalopathy, 88


intracranial arterial disease

Pathological conditions involving arteries in the skull, such as arteries supplying the cerebrum, the cerebellum, the brain stem, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes.


pituitary deficiency due to Rathke's pouch cysts


brain small vessel disease 1 with or without ocular anomalies

Any porencephaly in which the cause of the disease is a mutation in the COL4A1 gene.


myalgia-eosinophilia syndrome associated with tryptophan

A rare systemic disease characterized by severe myalgia and peripheral eosinophilia associated with tryptophan dietary supplementation. The symptoms do not subside after tryptophan discontinuation. Clinical presentation includes muscle tenderness and cramps, fatigue, weakness, paresthesia, peripheral edema, arthralgia, dyspnea, skin rash, dry mouth, and development of scleroderma-like skin abnormalities.


14q12 microdeletion syndrome

14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months.


ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive


aorta atresia

An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta.


lip disorder

A disease involving the lip.


idiopathic inflammatory myopathy

Idiopathic form of inflammatory myopathy.


sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

A syndrome is characterized by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia.


pyridoxal phosphate-responsive seizures

Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate.


immunoproliferative disorder

Disorders characterized by abnormal proliferation of primary cells of the immune system or by excessive production of immunoglobulins.


sickle cell-hemoglobin d disease syndrome

A variant of sickle cell disease due to heterozygosity for hemoglobin S and hemoglobin D mutations. Patients present with the symptoms of sickle cell disease but the symptoms are less frequent and severe compared to patients with hemoglobin SS disease.


phosphorus metabolism disease

A metabolic disorder that affects the phosphate homeostasis.


Bardet-Biedl syndrome 11

Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TRIM32 gene.


immunodeficiency 37

Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL10 gene.


paternal uniparental disomy of chromosome 13

Paternal uniparental disomy of chromosome 13 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.


advance sleep phase syndrome, familial, 4


autosomal recessive spastic paraplegia type 69


developmental and epileptic encephalopathy, 43

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB3 gene.


ectodermal dysplasia 9, hair/nail type

Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the HOXC13 gene.


X-linked dominant hypophosphatemic rickets

X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth.


MELAS syndrome caused by mutation in MTTQ

Any MELAS syndromein which the cause of the disease is a mutation in the MTTQ gene.


juvenile overlap myositis

Juvenile overlap myositis is a rare juvenile idiopathic inflammatory myopathy characterized by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (e.g. systemic lupus erythematosus, localized scleroderma, diabetes). Cardiac involvement has been reported in some patients.


pyruvate dehydrogenase E2 deficiency

Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood.


orofacial cleft 11

Any orofacial cleft in which the cause of the disease is a mutation in the BMP4 gene.


benign vaginal mixed epithelial and mesenchymal neoplasm

A non-metastasizing neoplasm that arises from the vagina and is characterized by the presence of benign epithelial and benign mesenchymal elements.


mitochondrial complex I deficiency, mitochondrial type


adolescent idiopathic scoliosis

A scoliosis with no known cause arising in adolescent.


Powassan encephalitis

A disease caused by infection with Powassan virus.


early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome


developmental and epileptic encephalopathy, 37

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FRRS1L gene.


developmental and epileptic encephalopathy, 47

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FGF12 gene.


multiple epiphyseal dysplasia, with miniepiphyses

Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported.


theileriasis

Infection of cattle, sheep, or goats with protozoa of the genus theileria. This infection results in an acute or chronic febrile condition.


carnitine palmitoyltransferase II deficiency

Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form.


tinea imbricata

A tinea corporis that results in fungal infection located in skin, has material basis in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition.


microangiopathy and leukoencephalopathy, pontine, autosomal dominant


scorpion envenomation

Scorpion envenomation is a rare intoxication caused by a scorpion sting which typically manifests with localized pain, edema, erythema, and paresthesias at the site of the sting and, when severe, progresses to produce systemic symptoms of variable severity that include respiratory difficulties, abnormal systemic blood pressure, cardiac arrhythmia, and a combination of parasympathetic (i.e. excessive salivation and lacrimation, diaphoresis, miosis, frequent urination, diarrhea, vomiting, priapism) and sympathetic (e.g. hyperthermia, hyperglycemia, mydriasis) manifestations. Neurological manifestations may also be associated, such as abnormal eye movements, blurred vision, agitation and restlessness, as well as muscle fasciculations and spasms. Signs and symptoms are highly variable and in most severe cases may lead to cardiogenic shock and pulmonary edema.


spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy


mixed malaria

A malaria that involves infection with more than one species of Plasmodium at the same time.


focal segmental glomerulosclerosis 7

Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the PAX2 gene.


Thomsen and Becker disease

A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).


infantile spasms-broad thumbs syndrome

A rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990.


necatoriasis

A disorder caused by an infection with hookworms of the genus Necator, which settle in the host's small intestine, and cause abdominal pain, diarrhea, weight loss, and anemia.


hypertensive encephalopathy

Encephalopathy resulting from hypertension.


childhood multilocular cystic kidney neoplasm

A cystic neoplasm which arises from the kidney and occurs in children. It includes the cystic partially differentiated nephroblastoma and cases in which nephroblastomatous elements are not present.


parasitic skin disorder

Skin diseases caused by ARTHROPODS; HELMINTHS; or other parasites.


pelvic varices

A varicose disease that involves the pelvic region of trunk.


autosomal dominant vibratory urticaria

An autosomal dominant disease characterized by localized hives and systemic manifestations in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum.


autosomal recessive familial Mediterranean fever

Autosomal recessive form of familial Mediterranean fever.


multifocal dystonia

A dystonia that involves two or more unrelated body parts.


partial deletion of the short arm of chromosome 7

Chromosome 7p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.


glycogen storage disease V

Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance.


hemophagocytic lymphohistiocytosis, familial, 6


partial trisomy/tetrasomy of chromosome 5


diffuse idiopathic pulmonary neuroendocrine cell hyperplasia

A very rare condition characterized by generalized proliferation of pulmonary neuroendocrine cells. It manifests as progressive cough and dyspnea. It is considered a precursor for pulmonary carcinoid tumor.


anonychia with flexural pigmentation

Anonychia with flexural pigmentation is characterized by anonychia and skin abnormalities (hyper- and hypopigmentation in axillae and groins, dry palmar and plantar skin leading to sore and cracked soles). It has been described in a mother and her two children. The mode of transmission is autosomal dominant.


spinocerebellar ataxia, autosomal recessive 27


benign occipital epilepsy

Benign occipital epilepsy is a rare, genetic neurological disorder characterized by visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment of consciousness are typically associated with the Panayiotopoulos type, while visual hallucinations, ictal blindness and post-ictal headache are commonly observed in the Gastaut type. Electroencephalographic findings in both types are similar and include bilateral, synchronous, high voltage spike-wave complexes in a normal background activity located predominantly in the occipital lobes.


partial duplication of the short arm of chromosome 10


maternal uniparental disomy of chromosome 13

Maternal uniparental disomy of chromosome 13 is an uniparental disomy of maternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.


dystrophic epidermolysis bullosa, nails only

Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB) that shows no blistering and that is characterized by dystrophic or absent nails.


acrodermatitis enteropathica

Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure.


Gamma-glutamylcysteine synthetase deficiency is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported.


schistosomiasis

An infectious disease caused by parasitic trematodes of the genus Schistosoma that colonize human blood vessels and release eggs that can cause granulomatous reactions leading to acute (swimmer's itch or acute schistosomiasis syndrome) or chronic disease. Depending on where the eggs lodge, manifestations of chronic schistosomiasis can include diarrhea, abdominal pain, loss of appetite, anemia (intestines), hepatosplenism, periportal fibrosis with portal hypertension (liver), urogenital inflammation and scarring, hematuria and dysuria (genitourinary system). Other patients may be asymptomatic.


erythrokeratodermia variabilis

A rare genetic chronic skin disorder characterized by hyperkeratosis and transient erythema.


cystic neoplasm

A benign or malignant neoplasm that contains a single or multiple cystic spaces. Examples include cystadenoma, mucinous cystadenocarcinoma, and serous cystadenocarcinoma.


physiological malfunction arising from mental factor

A dysfunction in biological function that is due to a psychological process.


vitamin K-dependent clotting factors, combined deficiency of, type 1

Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z.


rigid spine muscular dystrophy 1

An inherited muscular dystrophy caused by mutations in the SEPN1 gene. It is characterized by severe limitation in flexion of the dorsolumbar and cervical spine, due to contracture of the spinal extensors. It leads to loss of movement of the spine and the thoracic cage.


pontocerebellar hypoplasia, type 2F

Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN15 gene.


hereditary spastic paraplegia 4

Autosomal dominant spastic paraplegia type 4 (SPG4) is a form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset.


uveoparotid fever

A manifestation of sarcoidosis marked by chronic inflammation of the parotid gland and the uvea.


primary pediatric heart tumor

Cardiac tumors are benign or malignant neoplasms arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic.


Fuchs heterochromic iridocyclitis

Fuchs heterochromic iridocyclitis (FHI) is an ocular disease of unknown etiology occurring in a very small percentage (0.5-6.2%) of uvietis cases, characterized by diffuse iris heterochromia or atrophy, keratic precipitates in the absence of synechiae, and in some cases evolving to glaucoma and vitreous opacities.


cystic fibrosis

Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.


diaphragma sellae meningioma

A meningioma that affects the diaphragma sellae.


Norwegian scabies

A rare, severe form of scabies that is associated with immunosuppression. It is characterized by an immense number of mites and hyperkeratotic crusted lesions, and is usually accompanied by lymphadenopathy and eosinophilia.


cutaneous liposarcoma

A malignant adipose tissue neoplasm of the skin.


fibular aplasia-ectrodactyly syndrome

Fibular aplasia-ectrodactyly syndrome is characterized by fibular aplasia and ectrodactyly. Less than 50 familial and sporadic cases have been reported in the literature. Shortening of the femur, a curved tibia, severe foot anomalies and pathologies of the hip, knee and ankle may also be present. The disorder is probably inherited as an autosomal dominant trait, with reduced penetrance, especially in females.


mitochondrial complex 2 deficiency, nuclear type 3


nephrotic syndrome, type 8

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


Rieger anomaly

Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of AxenfeldBs anomaly.


acquired rippling muscle disease

The acquired form of RMD. Although RMD most often is reported with autosomal dominant inheritance, some sporadic cases are found, and an association with other diseases such as myasthenia gravis has also been reported.


tibio-fibular synostosis

Tibio-fibular synostosis is a rare, non-syndromic limb malformation characterized by fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis, frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee.


peritoneal well differentiated papillary mesothelioma

A localized or multifocal mesothelioma arising from the peritoneum. It predominantly occurs in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to diffuse malignant mesothelioma.


ring chromosome 11

Ring chromosome 11 syndrome is an autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and café-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported.


junctional epidermolysis bullosa inversa

Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina.


deletion 5q35

Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3 . The most significant anomaly is a recurring deletion in 5q35.2 comprising the NSD1 gene that causes Sotos syndrome that is characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare, characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature due to growth hormone deficiency, and a variety of minor anomalies such as mildly bell-shaped chest, minor congenital heart defects and a distinct facial gestalt. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly, and significant cardiac defects (e.g. atrial septal defect with/without atrioventricular conduction defects, Ebstein anomaly, tetralogy of Fallot) linked to haploinsufficiency of NKX2.5 (5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment.


partial deletion of the short arm of chromosome 16


pulmonary branch stenosis

Narrowing of the lumen of the right or left pulmonary artery branch.


pachyonychia congenita 4

Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6B gene.


thyroid dyshormonogenesis 6

Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOX2 gene.


orofaciodigital syndrome VIII

Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit.


prosopagnosia, hereditary

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


allergic asthma

A asthma with a basis in a pathological type I hypersensitivity reaction.


cone-rod synaptic disorder, congenital nonprogressive


myeloid leukemia associated with down syndrome

An acute megakaryocytic leukemia occurring in children with Down syndrome and that has material basis in mutation in the GATA1 gene.


congenital disorder of glycosylation, type IIq


early-onset calcifying leukoencephalopathy-skeletal dysplasia


maternal uniparental disomy of chromosome 9

Maternal uniparental disomy of chromosome 9 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.


glaucoma with elevated episcleral venous pressure


peritoneal multicystic mesothelioma

A cystic mesothelioma that arises from the peritoneum and usually affects young to middle aged females. Grossly, it presents as a large multiloculated tumor mass, usually in the pelvic peritoneum. Histologically it is characterized by the presence of multiple cysts that are lined by one or more layers of mesothelial cells that do not show atypia. Patients usually present with abdominal or pelvic mass and pain. The clinical course is indolent. The tumor may recur, but transformation to diffuse malignant mesothelioma is rare.


mitochondrial complex III deficiency nuclear type 1

Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the BCS1L gene.


cervix melanoma

An aggressive malignant tumor of melanocytic origin that arises from the cervix.


internal hirudiniasis

A condition resulting from accidental ingestion of leeches in drinking water. They may attach themselves to the wall of the pharynx, nasal cavity, or larynx.


ocular melanoma with extraocular extension

A melanoma arising from and extending beyond the structures of the eye.


acquired pituitary hormone deficiency

An instance of hypopituitarism that is acquired during the lifetime of the individual.


Kandori fleck retina

Kandori fleck retina is a rare, genetic retinal dystrophy characterized by irregular, sharply defined, yellowish-white lesions of variable size that are distributed mainly in the nasal equatorial region of the retina, with a tendency to confluence, that are not associated with any vascular or optic nerve abnormalities. They frequently manifest as mild and stationary night blindness.


vestibulocochlear nerve disorder

A disease involving the vestibulocochlear nerve.


GM1 gangliosidosis type 1

GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis with variable neurological and systemic manifestations.


Meckel syndrome, type 6

Any Meckel syndrome in which the cause of the disease is a mutation in the CC2D2A gene.


neonatal lupus erythematosus

A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis.


amelogenesis imperfecta type 1F

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


orofaciodigital syndrome type II

Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas.


achondrogenesis type IB

Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.


spinocerebellar ataxia type 36

Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia.


lethal short-limb skeletal dysplasia, Al Gazali type


grade II meningioma

An atypical meningioma which may recur in approximately 29-40% of the cases. This category includes the atypical meningioma, chordoid meningioma, and clear cell meningioma.


postpoliomyelitis syndrome

Postpoliomyelitis syndrome (PPS) is a neurologic disorder characterized by the development of new neuromuscular symptoms such as progressive muscular weakness or abnormal muscle fatigability occurring in survivors of the acute paralytic form of poliomyelitis, 15-40 years after recovery from the disease, and that is unexplained by other medical causes. Other manifestations that can occur gradually include generalized fatigue, muscle atrophy, muscle and joint pain, intolerance to cold, and difficulties sleeping, swallowing or breathing.


orofaciodigital syndrome type 12

Orofaciodigital syndrome type 12 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (septum hypertrophy) and central nervous system abnormalities (myelomeningocele, Sylvius aqueduct stenosis, corpus callosum agenesis, vermis hypoplasia), in addition to oral, facial and digital malformations (gingival frenulae, bifid tongue, supernumerary teeth, macrocephaly, hypertelorism, pre- and post-axial polydactyly in hands, preaxial polydactyly in feet and club feet). Skeletal anomalies, such as short tibiae and central, Y-shaped metacarpals, are also associated.


mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)

Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the OPA1 gene.


amelogenesis imperfecta, type 3A

Any amelogenesis imperfecta in which the cause of the disease is a mutation in the FAM83H gene.


testicular granulosa cell tumor

A rare sex cord-stromal tumor that arises from the testis. It is characterized by the presence of granulosa-like cells and Call-Exner bodies. There are two variants described, the adult and the juvenile.


inborn metal metabolism disorder

An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals.


extracutaneous mastocytoma

A localized tumor consisting of mature mast cells. (WHO, 2001) -- 2003


spinocerebellar ataxia type 29

Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.


inherited prekallikrein deficiency

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


talo-patello-scaphoid osteolysis

Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis, described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E), in the absence of renal disease. Autosomal recessive inheritance has been suggested.


stromal corneal dystrophy

The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy.


platelet-type bleeding disorder 9

Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ITGA2 gene.


split hand

Split hand is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral or unilateral underdevelopment or absence of the central rays of the autopod, with absence of all or just some of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age.


cerebral arterial disease

Pathological conditions of intracranial arteries supplying the cerebrum. These diseases often are due to abnormalities or pathological processes in the anterior cerebral artery; middle cerebral artery; and posterior cerebral artery.


spastic ataxia-dysarthria due to glutaminase deficiency


qualitative or quantitative defects of gamma-sarcoglycan


hypoalphalipoproteinemia, primary, 1

Any ypoalphalipoproteinemia in which the cause of the disease is a mutation in the ABCA1 gene.


methanol poisoning

Methanol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the alcohol dehydrogenase (ADH)-mediated production of formic acid (which is poisonous to the central nervous system), and characterized by dizziness, nausea, vomiting, confusion, metabolic acidosis, visual disturbances (which if left untreated can lead to blindness), coma, and death (due to respiratory failure).


isolated glycerol kinase deficiency

Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD ).


genital herpes simplex type 2 infectious disorder

Any herpes simplex type 2 infectious disease that involves the genitals.


developmental and epileptic encephalopathy, 11

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN2A gene.


ostertagiasis

A disease of herbivorous mammals, particularly cattle and sheep, caused by stomach worms of the genus ostertagia.


maternal uniparental disomy of chromosome 22


congenital laryngeal palsy

Congenital laryngeal palsy is a rare larynx anomaly characterized by unilateral or bilateral paralysis of the vocal cords as a result of dysfunction of the motor nerve supply to the larynx. Patients typically present at birth (or shortly thereafter) with stridor, weak or breathy cry, dysphonia or aphonia, feeding or aspiration difficulties and, occasionally, respiratory compromise. Neurological disease, masses that cause compression and aberrant vessels are often associated. Most cases resolve spontaneously over 6-12 months.


telangiectasia, hereditary hemorrhagic, type 5

Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the GDF2 gene.


split hand, unilateral

Split hand, unilateral is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by unilateral underdevelopment or absence of the central rays of the autopod, with absence of all, or just some, of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age.


carpotarsal osteochondromatosis

Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs.


myopathy, congenital, with respiratory insufficiency and bone fractures


renal hypodysplasia/aplasia 2

Any renal agenesis in which the cause of the disease is a mutation in the FGF20 gene.


Fitz-Hugh-Curtis syndrome

Fitz-Hugh-Curtis syndrome (FHCS) is a condition in which a woman has swelling of the tissue covering the liver as a result of having pelvic inflammatory disease (PID). Symptoms most often include pain in the upper right abdomen just below the ribs, fever, nausea, or vomiting. The symptoms of pelvic inflammatory disease - pain in the lower abdomen and vaginal discharge -are oftenpresent as well. FHCS is usually caused by an infection of chlamydia or gonorrhea that leads to PID; it is not known why PIDprogresses toFHCS in some women. Fitz-Hugh-Curtis syndrome is treatedwith antibiotics.


cutaneous solitary mastocytoma

A variant of cutaneous mastocytosis which occurs as a single lesion usually in infants. It is found mostly in the wrist and trunk and there is no atypical cytomorphology.


spastic monoplegia

A spastic cerebral palsy that affects only one limb.


metachromatic leukodystrophy, juvenile form

Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin.Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes.


eastern equine encephalitis

Eastern equine encephalitis (EEE) is an acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that is characterized by the onset of flulike symptoms including fever, chills, weakness, headache, vomiting, abdominal pain with diarrhea, myalgia, leucocytosis, and hematuria, rapidly progressing to diffuse central nervous system (CNS) involvement with confusion, somnolence, or even coma. Seizures, which may progress to status epilepticus and neurologic sequelae, cranial nerve palsies, and photophobia may occur. EEE is associated with a high rate of morbidity and mortality.


proximal chromosome 18q deletion syndrome

Chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material from the part of the long (q) arm near the center of chromosome 18.


2q23.1 microduplication syndrome

2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioral problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported.


Perrault syndrome

Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.


pineal region meningioma

A meningioma that affects the pineal gland.


hamel cerebro-palato-cardiac syndrome

Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.


acute myeloid leukemia with t(6;9)(p23;q34)

Acute myeloid leukemia with t(6;9)(p23;q34) is a rare subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported.


qualitative or quantitative defects of alpha-sarcoglycan


lichen planus pigmentosus

Lichen planus (LP) pigmentosus is a rare variant of cutaneous lichen planus characterized by the presence of hyperpigmented lichenoid lesions in sun-exposed or flexural areas of the body.


acute myeloid leukemia with mutated NPM1

An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features. It usually responds to induction therapy.


erythrokeratodermia variabilis et progressiva 5


combined immunodeficiency due to partial RAG1 deficiency

A form of combined T and B cell immunodeficiency (CID) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.


disorder of methylamine metabolism

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


osteogenesis imperfecta type 17

Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SPARC gene.


protein-energy malnutrition

A nutritional deficit that is caused by inadequate protein or calorie intake.


intellectual disability, autosomal recessive 53


vitelliform macular dystrophy 4

Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG1 gene.


xeroderma pigmentosum group G

Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC5 gene.


autosomal genetic disease

A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes.


pyeloureteritis cystica

A non-neoplastic lesion of the ureter characterized by the presence of multiple submucosal small cysts in the ureteral wall.  It is caused by inflammation due to urinary tract stones or infection.


GNE myopathy

Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps.


rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome


radiation-induced disorder

A non-neoplastic or neoplastic disorder which results from exposure to radiation. Examples of non-neoplastic disorders include dermatitis, enteritis, stomatitis, pneumonitis, and cerebritis. Examples of neoplastic disorders include myelodysplastic syndromes, leukemias, and sarcomas.


primary ciliary dyskinesia 25

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF4 gene.


autosomal recessive distal titinopathy

A rare myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs. Described as a more severe tibial muscular dystrophy phenotype, distal titinopathy is associated with earlier onset and progression to include soleus muscle and proximal muscles.


Ewing sarcoma/peripheral primitive neuroectodermal tumor

A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. These tumors may occur in the soft tissues or the bones. Pain and the presence of a mass are the most common clinical symptoms.


cone-rod dystrophy 18

Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAB28 gene.


thrombocytopenia 4

Any thrombocytopenia in which the cause of the disease is a mutation in the CYCS gene.


Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1


congenital absence of both lower leg and foot, bilateral


erythematosquamous dermatosis

A skin condition that primarily affects the scalp and face and presents as scaly inflammation. Examples include itchy, dry skin and dandruff.


interdigitating dendritic cell sarcoma

A neoplastic proliferation of spindle to ovoid cells which show phenotypic features similar to those of interdigitating dendritic cells. The clinical course is generally aggressive. (WHO, 2008)


osteogenic neoplasm

A benign, intermediate, or malignant bone-forming neoplasm. Representative examples include osteoma, osteoblastoma, and osteosarcoma.


atypical polypoid adenomyoma

An adenomyoma characterized by the presence of marked glandular architectural complexity.


letterer-Siwe disease

A multifocal, multisystem form of Langerhans-cell histiocytosis. There is involvement of multiple organ systems including the bones, skin, liver, spleen, and lymph nodes. Patients are usually infants presenting with fever, hepatosplenomegaly, lymphadenopathy, bone and skin lesions, and pancytopenia.


nemaline myopathy 6

Any nemaline myopathy in which the cause of the disease is a mutation in the KBTBD13 gene.


malignant renal pelvis neoplasm

A primary or metastatic malignant neoplasm that affects the renal pelvis.


congenital toxoplasmosis

Toxoplasma infection that is present from birth.


Leydig cell hypoplasia due to complete LH resistance


maternal uniparental disomy of chromosome 20

Maternal uniparental disomy of chromosome 20 (UPD 20) is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy.


combined oxidative phosphorylation deficiency 34


staphylococcus aureus infection

An infectious process in which the bacteria Staphylococcus aureus is present.


spinal muscular atrophy, type III

Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.


disorder of carbohydrate transmembrane transport and absorption


Pthirus pubis infestation

Infestation of the pubic hair by the pthirus pubis parasite which results in mild to intense itching and macular lesions. The parasite, also known as crab lice, is transmitted through skin to skin contact with an infected person or through direct contact with infested objects.


von Willebrand disease (hereditary or acquired)

Hereditary or acquired coagulation disorder characterized by a qualitative or quantitative deficiency of the von Willebrand factor. The latter plays an important role in platelet adhesion. Signs and symptoms include bruises, nose bleeding, gum bleeding following a dental procedure, heavy menstrual bleeding, and gastrointestinal bleeding.


blepharophimosis-epicanthus inversus-ptosis due to copy number variations

Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement.


intellectual disability-hypotonia-spasticity-sleep disorder syndrome


megaconial type congenital muscular dystrophy


cardiac diverticulum

Congenital cardiac diverticulum (CCD) is a very rare congenital malformation characterized by a muscular appendix emerging from the left ventricular apex, rarely from the right ventricle or from both chambers, with clinical manifestations ranging from asymptomatic to life-threatening hemodynamic collapse.


botryomycosis

A rare chronic suppurative bacterial infection involving mostly subcutaneous tissues and less frequently other organs. Botryomycosis is mostly caused by Staphylococcus aureus, Escherichia coli and Pseudomonas aeruginosa but the exact pathogenesis remains uncertain. Treatment often requires a combination of both surgical debridement and long-term antimicrobial therapy.


hypotonia, infantile, with psychomotor retardation and characteristic facies 1

Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the NALCN gene.


sulfide quinone oxidoreductase deficiency


primary orthostatic hypotension

Primary orthostatic hypotension is a rare type of orthostatic hypotension. It is not a disease per se, but a condition caused by several disorders that affect a specific part of the autonomic nervous system, such as multiple system atrophy, young-onset Parkinson's disease, pure autonomic failure, dopamine beta-hydroxylase deficiency, familial dysautonomia, and pure autonomic failure among others. The autonomic nervous system is the part of the nervous system that regulates certain involuntary body functions such as heart rate, blood pressure, sweating, and bowel and bladder control. Orthostatic hypotension is a form of low blood pressure that happens when standing-up from sitting or lying down. Common symptoms may include dizziness, lightheadedness, generalized weakness, leg buckling, nausea, blurry vision, fatigue, and headaches. Additional symptoms can include chest pain (angina), head and neck pain (often affecting neck and shoulders with a coat hanger distribution), decline in cognitive functioning such as difficulty concentrating, temporary loss of consciousness or “blackout”. Some people with primary orthostatic hypotension may also have high blood pressure when lying down. The treatment depends upon several factors including the specific underlying cause including The treatment depends upon several factors including the specific underlying cause and may include physical counter-maneuvers like lying down, sitting down, squatting clenching buttocks, leg crossing, and support garment and medication.


achondrogenesis type IA

Achondrogenesis type 1A (ACG1A), a form of achondrogenesis, is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.


GNPTG-mucolipidosis

A very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis II and mucolipidosis III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency.


nystagmus 4, congenital, autosomal dominant


atypical lipomatous tumor

An intermediate, locally aggressive lipomatous neoplasm. Microscopically, the adipose tissue contains large and pleomorphic lipoblasts, and is dissected by fibrous septa containing spindle cells. It requires a wide local excision, may recur locally, but never metastasizes.


facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome

Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome is characterized by Dandy-Walker malformation, severe intellectual deficit, macrocephaly, brachytelephalangy, facial dysmorphism and severe myopia. Three cases have been described. Transmission appears to be autosomal recessive.


combined PSAP deficiency

Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses.


acquired hemoglobinopathy

An instance of hemoglobinopathy that is acquired during the lifetime of the individual.


hereditary von Willebrand disease

Hereditary von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N).


humeral agenesis/hypoplasia

Humeral agenesis/hypoplasia is a rare, non-syndromic limb reduction defect characterized by the unilateral or bilateral presence of a short arm with completely absent or underdeveloped humerus, frequently associated with ulnar and/or radial malformations. Patients may present with the appearance of the forearm directly attached to the shoulder, no articulation at the shoulder joint, impossible passive extension of the arm beyond the mid-axillary line, no elbow joints, bowing of the radius, a short ulna and/or ulnar/radial deviation of the hand at the wrist.


non-histaminic angioedema

Angioedema is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain.


neurodevelopmental disorder with or without anomalies of the brain, eye, or heart


X-linked spinocerebellar ataxia type 4

Spinocerebellar ataxia, X-linked, type 4 is characterized by ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life.


thrombophilia, X-linked, due to factor 9 defect

A hemostatic disorder characterized by a tendency to thrombosis that has X-linked recessive inheritance, and can be caused by a gain-of-function mutation in the gene encoding factor IX (F9).


pediatric meningioma

A meningioma that occurs during childhood.


neuronal ceroid lipofuscinosis 11

Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the GRN gene.


focal facial dermal dysplasia type III

Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.


sterol carrier protein 2 deficiency

A peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy.


congenital disorder of deglycosylation 1

A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities.


leukoencephalopathy with bilateral anterior temporal lobe cysts

Leukoencephalopathy with bilateral anterior temporal lobe cysts is a nonprogressive neurological disorder marked by intellectual deficit, spasticity and motor retardation associated with characteristic MRI findings of anterior bilateral temporal lobe cysts and multilobar leukoencephalopathy. So far, around 30 cases have been reported in the literature. Onset occurs in the first few months of life. Sensorineural deafness and microcephaly have also been reported. The etiology is unknown but an autosomal recessive mode of inheritance has been suggested.


childhood onset asthma

Asthma that starts in childhood.


mitochondrial complex 4 deficiency, nuclear type 14


intellectual disability, autosomal dominant 33

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DPP6 gene.


infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia

A rare genetic respiratory disease characterized by infantile onset of pulmonary alveolar proteinosis with hypogammaglobulinemia. Patients have normal respiratory function at birth, but subsequently develop recurrent, mainly viral, infections and progressive respiratory failure, often leading to death in infancy or early childhood. Additional reported features include leukocytosis and splenomegaly.


congenital stromal corneal dystrophy

Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss.


Zika virus congenital syndrome

A congenital birth syndrome that arises from materal Zika infection.


X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982.


dentinogenesis imperfecta type 2

Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI) and is characterized by weakness and discoloration of all teeth.


moderately severe hemophilia A

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


hereditary spastic paraplegia 10

Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case.


spondylocostal dysostosis 5

Any spondylocostal dysostosis in which the cause of the disease is a mutation in the TBX6 gene.


glucocorticoid deficiency 2

Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MRAP gene.


amelia of lower limb

A non-syndromic amelia that involves the hindlimb.


central polydactyly of fingers, bilateral


granular corneal dystrophy type I

Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe.


progressive supranuclear palsy-progressive non-fluent aphasia syndrome

PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP.


benign neoplasm of meninges

A benign neoplasm that involves the meningeal cluster.


congenital myasthenic syndrome 16

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SCN4A gene.


HIV enteropathy

A syndrome characterized by chronic, well-established diarrhea (greater than one month in duration) without an identified infectious cause after thorough evaluation, in an hiv-positive individual. It is thought to be due to direct or indirect effects of hiv on the enteric mucosa. hiv enteropathy is a diagnosis of exclusion and can be made only after other forms of diarrheal illness have been ruled out. (Harrison's Principles of Internal Medicine, 13th ed, pp1607-8; Haubrich et al., Bockus Gastroenterology, 5th ed, p1155)


vitamin D-dependent rickets, type 2A

Rickets caused by a defect in the VDR gene, encoding the vitamin D receptor. This form of rickets is characterized by hypocalcemia, elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations and may also manifest with alopecia.


pulmonary artery coming from the aorta

Pulmonary artery coming from the aorta (PACA) is a cardiac malformation characterized by anomalous origin of one branch of the pulmonary arteries from the ascending aorta and a normal origin of the other pulmonary artery from the right ventricular outflow tract, and presenting with respiratory distress, congestive heart failure and failure to thrive within the first days/months of life.


Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.


B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality

The term refers to precursor lymphoid neoplasms which are composed of B-lymphoblasts and characterized by the presence of recurrent genetic abnormalities.


disorder of bile acid aminotransferase

Any peroxisomal single enzyme/protein defect that has its basis in the disruption of bile acid aminotransferase.


isolated congenital entropion

A rare eyelid malposition disorder characterized by congenital abnormal inversion of the eyelid towards the globe, potentially causing mechanical irritation of the ocular surface by the eyelashes, which may lead to corneal abrasion and scarring with visual impairment. Typical initial symptoms are foreign body sensation, redness, tearing, and ocular discharge.


familial steroid-resistant nephrotic syndrome with sensorineural deafness


macrothrombocytopenia, isolated, 2, autosomal dominant


lethal faciocardiomelic dysplasia

Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome.


hypoplasminogenemia

Severe hypoplasminogenemia (HPG) or type 1 plasminogen (plg) deficiency is a systemic disease characterized by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae during wound healing.


intellectual disability, autosomal dominant 1

An autosomal dominant condition caused by mutation(s) in the MBD5 gene, encoding methyl-CpG-binding domain protein 5. It is characterized by severe developmental and cognitive delay, short stature, craniofacial dysmorphism, and seizures.


A syndrome is characterized by ataxia, delayed dentition, hypomyelination and cerebral atrophy. So far, eight cases have been described.


anterior optic tract meningioma

A meningioma that affects the anterior visual pathway.


orbital granuloma

A granuloma located on the orbit of the eye.


immunodeficiency, common variable, due to APRIL deficiency

Any commonn variable immunodeficiency in which the cause of the disease is an autosomal recessive variation in the TNFS13 gene.


benign Samaritan congenital myopathy

Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood.


oligoarticular juvenile idiopathic arthritis

Oligoarticular juvenile arthritis is the most common form of juvenile idiopathic arthritis (JIA), representing nearly 50% of cases.


non-syndromic brachydactyly of fingers

A non-syndromic brachydactyly that involves the manus.


calvarial doughnut lesions-bone fragility syndrome

This syndrome is characterized by multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria.


autosomal recessive disease

Autosomal recessive form of disease.


intellectual disability, autosomal recessive 16


distal monosomy 1q

1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies.


early-onset pulmonary and cutaneous vasculitis

A monogenic autoinflammatory disorder caused by a de novo activating mutation, p.Tyr515∗, in hematopoietic cell kinase (HCK). The disease is characterized by cutaneous vasculitis and chronic pulmonary inflammation that progresses to fibrosis.


alcohol and nicotine codependence

A drug dependence that is the physiological result of being addicted to alcohol and nicotine.


thyroid dyshormonogenesis 4

Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the IYD gene.


Cenani-Lenz syndactyly syndrome

Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.


autosomal recessive nonsyndromic hearing loss 37

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene.


soft tissue chondroma

A benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification.


neurolymphomatosis

A transmissible viral disease of birds caused by avian herpesvirus 2 (herpesvirus 2, gallid) and other mardivirus. There is lymphoid cell infiltration or lymphomatous tumor formation in the peripheral nerves and gonads, but may also involve visceral organs, skin, muscle, and the eye.


tooth agenesis, selective, 3

Any tooth agenesis in which the cause of the disease is a mutation in the PAX9 gene.


FRAXE intellectual disability

A nonsyndromic X-linked mental retardation (NS-XLMR) characterized by mild intellectual deficit. FRAXE is the most common form of NS-XLMR.


B-cell adult acute lymphocytic leukemia

An acute B-lymphoblastic leukemia occurring in adults.


focal palmoplantar and gingival keratoderma

Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial- and lingual- attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement.


primary ciliary dyskinesia 5

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


disease related to hematopoietic stem cell transplant

Disease that occurs as a consequence of immunosuppression in a recipient of a hematopoietic stem cell transplant, or as a consequence of the transplantation.


carnitine palmitoyl transferase II deficiency, neonatal form

The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.


Mycoplasma encephalitis

Mycoplasma encephalitis is a rare infectious encephalitis characterized by an acute onset of neurological signs and symptoms (e.g. altered consciousness, seizures, headaches, meningeal signs, behavioral changes) due to bacterial infection by Mycoplasma pneumoniae. Patients typically present unspecific signs and symptoms, such as fever, nausea, vomiting, fatigue, prior to onset of neurological manifestations and frequently have a history of a respiratory tract infection (e.g. pneumonia, bronchiolitis, pharyngitis).


mullerian duct anomalies-limb anomalies syndrome

Mullerian duct anomalies-limb anomalies syndrome is characterized by the association of mullerian duct and distal limb anomalies. It has been described in five individuals from one family. Females presented with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males presented with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. The mode of transmission is autosomal dominant.


Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGPS gene.


benign neoplasm of testis

A benign neoplasm that involves the testis.


focal palmoplantar keratoderma with joint keratoses


Cornelia de Lange syndrome 4

Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the RAD21 gene.


hypogonadotropic hypogonadism 22 with or without anosmia

Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FEZF1 gene.


premature closure of the arterial duct

Premature closure of the arterial duct is a rare arterial duct anomaly, defined as a significant constriction or closure of the fetal arterial duct in the absence of structural heart defects with pathognomonic features of increased right ventricular afterload, tricuspid regurgitation and, consequently, right atrial dilation and right ventricular hypertrophy. The severity of symptoms is related to the degree and rate of ductal constriction and ranges from mild postnatal respiratory distress to development of ventricular failure with fetal hydrops and intrauterine death or severe cardiopulmonary compromise in the postnatal period. It may be associated with a prenatal exposure to cyclooxygenase inhibitors or corticosteroids.


brainstem neoplasm

A neoplasm (disease) that involves the brainstem.


porencephaly-cerebellar hypoplasia-internal malformations syndrome

Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterized by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed.


congenital dyserythropoietic anemia type 2

Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones.


MELAS syndrome caused by mutation in MTND1

Any MELAS syndromein which the cause of the disease is a mutation in the MTND1 gene.


mast cell neoplasm

A heterogeneous group of disorders characterized by the abnormal growth and accumulation of mast cells in one or more organ systems. Recent data suggest that most variants of mast cell neoplasms are clonal disorders. (WHO, 2001)


heart aneurysm

A localized bulging or dilatation in the muscle wall of a heart (myocardium), usually in the left ventricle. Blood-filled aneurysms are dangerous because they may burst. Fibrous aneurysms interfere with the heart function through the loss of contractility. True aneurysm is bound by the vessel wall or cardiac wall. False aneurysms are hematoma caused by myocardial rupture.


malignant dysgerminomatous germ cell tumor of ovary

Malignant dysgerminomatous germ cell tumor of ovary is the most common form of malignant germ cell tumor of ovary, arising from germ cells in the ovary, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding, and acute abdomen and is characterized by bilaterality (around 10% of cases), association with dysgenetic gonads (5 to 10% of cases), elevated serum lactate dehydrogenase (LDH) and human chorionic gonadotrophin (hCG) (in the presence of syncitiotrophoblasts). Malignant dysgerminomatous germ cell tumor of ovary responds well to chemotherapy, potentially sparing patients from infertility and early mortality.


true unicornuate uterus

True unicornuate uterus is a rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube with no rudimentary horn. Urinary tract anomalies are frequently associated.


cataract 37

A cataract that has material basis in variation in the region 12q24.2-q24.3.


DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion


undetermined early-onset epileptic encephalopathy

A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also variable and may include cerebral atrophy or white matter abnormalities.