acquired factor XI deficiency

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


Charcot-Marie-Tooth disease type 1E

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A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients.


spondyloepimetaphyseal dysplasia, matrilin-3 type

A spondyloepimetaphyseal dysplasia characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.


Rasmussen subacute encephalitis

A rare, progressive chronic inflammation of a single cerebral hemisphere that usually affects children. It is characterized by severe seizures, loss of motor skills and speech, hemiparesis, and dementia.


empyema

An accumulation of pus in a body cavity, usually the pleural space.


neovascular glaucoma

Neovascular glaucoma is the most common type of secondary glaucoma, usually caused by diabetic retinopathy, central retinal vein occlusion and carotid artery obstruction but sometimes by trauma, uvietis or ocular tumors, and characterized by severe eye pain, synechial angle glaucoma, high intraocular pressure and leading to loss of vision.


childhood choroid plexus neoplasm

A neoplasm that arises from the choroid plexus in the brain and occurs during childhood.


chemotherapy-induced hypertension

A form of hypertension that occurs as a direct result of chemotherapy treatment


septicemic plague

A plague in which the bacteria have entered the bloodstream.


TELO2-related intellectual disability-neurodevelopmental disorder


skull base meningioma

A meningioma that arises from the skull base.


intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome

An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of PPP2R5D on chromosome 6p21.1.


mosaic trisomy 4

Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorally rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated.


primary organ-specific lymphoma

A header term comprising lymphomas classified based on anatomic location.


Nidovirales infectious disease

Infections with viruses of the order nidovirales. The concept includes arterivirus infections and coronaviridae infections.


epithelioid cell nevus

A nevus characterized by the presence of large epithelioid melanocytes.


transposition of the great arteries, dextro-looped

Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the MED13L gene.


kuru

A prion disease found exclusively among the Fore linguistic group natives of the highlands of new guinea. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773)


xeroderma pigmentosum group D

Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC2 gene.


immunodeficiency 92

An autosomal recessive primary immunodeficiency characterized by the onset of recurrent infections in infancy or early childhood. Infectious agents are broad, including bacterial, viral, fungal, and parasitic, including Cryptosporidium and Mycobacteria. Patient lymphocytes show defects in both T- and B-cell proliferation, cytokine secretion, and overall function, and there is also evidence of dysfunction of NK, certain antigen-presenting cells, and myeloid subsets. Hematopoietic stem cell transplantation may be curative.


chronic frontal sinusitis

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


chromosome 1q21.1 duplication syndrome

Chromosome 1q21.1 duplication syndrome is a rare condition caused by the presence of an extra copy of a small piece of chromosome 1 in the cells of the body. Signs and symptoms can vary widely among affected individuals. Some individuals have no symptoms, while others may have features such as a large head size (macrocephaly); mild to moderate developmental delay and learning difficulties; autism or autistic-like behavior; heart problems; seizures; and/or and distinctive facial features. This condition can occur sporadically as a de novo mutation (by chance) or can be inherited in an autosomal dominant manner from a parent. Treatment depends on the signs and symptoms present in each individual.


benign neoplasm of iris

A benign neoplasm that involves the iris.


sensorineural hearing loss-early graying-essential tremor syndrome

Sensorineural hearing loss-early graying-essential tremor syndrome is characterised by the combination of sensorineural hearing loss, early greying of scalp hair and adult onset essential tremor.


RPGR-related retinopathy

A retinopathy caused by a variant in the X-linked gene, RPGR.


STT3A-congenital disorder of glycosylation

STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3).


epidermolysis bullosa simplex with extracutaneous involvement


hereditary angioedema type 2

Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.


Charcot-Marie-Tooth disease recessive intermediate C

Autosomal recessive intermediate Charcot-Marie-Tooth disease type C is a rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy.


metagonimiasis

An infection that is most commonly caused by the intestinal fluke Metagonimus yokogawai, which is most commonly found in the Far East, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection.


epidermolysis bullosa simplex

Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma.


autosomal recessive nonsyndromic hearing loss 29

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLDN14 gene.


benign neoplasm of penis

A benign neoplasm that involves the penis.


inborn disorder of the gamma-glutamyl cycle


DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion


mitochondrial complex III deficiency nuclear type 5

Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRC2 gene.


PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy.


agammaglobulinemia 7, autosomal recessive

Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the PIK3R1 gene.


disorder of GPI anchor biosynthesis

A disease that has its basis in the disruption of GPI anchor biosynthetic process.


mitochondrial complex 1 deficiency, nuclear type 33


focal epithelial hyperplasia

Hyperplasia characterized by the presence of a focal proliferation of epithelial cells.


ataxia - deafness - intellectual disability syndrome

This syndrome is characterised by progressive ataxia beginning during childhood, deafness and intellectual deficit.


rapidly progressive primary central nervous system vasculitis

A subset of primary central nervous system vasculitis where disease is rapidly progressive after onset that is characterized by bilateral, multiple, large cerebral vessel lesions and multiple CNS infarctions.


diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome


trachea sarcoma

A rare malignant soft tissue neoplasm that arises from the trachea.


retinal melanoma

A melanoma affecting the retinal portion of the eye. --2003


dyskeratosis congenita, autosomal recessive 2

A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA2 on chromosome 5q35.3.


c11orf73-related autosomal recessive hypomyelinating leukodystrophy


acquired epidermolysis bullosa

Epidermolysis bullosa acquisita (EBA) is a subepidermal bullous dermatosis of autoimmune origin that was named as a result of its resemblance to hereditary forms of epidermolysis bullosa (HEB), most notably dystrophic HEB.


hypomyelinating leukodystrophy 5

Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit.


neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures


intellectual disability, autosomal dominant 55, with seizures


chromosome 22 disorder

Chromosomal disorder in which chromosome 22 is affected.


heart-hand syndrome type 3

Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle.


transitional meningioma

A WHO grade I meningioma characterized by the coexistence of meningothelial cells and fibrous architectural patterns.


uterine carcinosarcoma

A usually aggressive malignant neoplasm arising from the uterine corpus and less often the cervix. It is characterized by the presence of two components: a malignant epithelial component and a sarcomatous component. In the uterine corpus the epithelial component is usually glandular whereas in the cervix is usually non-glandular. Carcinosarcoma of the cervix, although it is aggressive, it may have a better prognosis compared to the uterine corpus carcinosarcoma.


hereditary sensory and autonomic neuropathy with deafness and global delay

This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay.


retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies

An autosomal dominant condition caused by mutation(s) in the ITM2B gene, encoding integral membrane protein 2B. It is characterized by progressive loss of central vision, and inner retinal dystrophy with ganglion cell abnormalities.


neuropathy, hereditary sensory, type 1F

Any hereditary sensory and autonomic neuropathy type 1 in which the cause of the disease is a mutation in the ATL3 gene.


severe X-linked intellectual disability, Gustavson type

Severe X-linked intellectual disability, Gustavson type is characterised by X-linked intellectual disability, microcephaly, optical atrophy with impaired vision or blindness, a severe hearing defect, facial dysmorphology, spasticity, epileptic seizures and restricted joint movement. It has been described in seven children from two generations of a Swedish family. All patients died in during early childhood.


respiratory system cancer

A malignant neoplasm involving the respiratory system


odontotrichomelic syndrome

Odontotrichomelic syndrome is characterised by malformations of all four extremities, hypoplastic nails, ear anomalies, hypotrichosis, abnormal dentition, hyperhidrosis and nasolacrimal duct obstruction. So far, it has been described in less than 10 patients. Transmission is autosomal recessive.


Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;

An autosomal recessive sub-type of Charcot-Marie-Tooth disease caused by compound heterozygous or homozygous mutation(s) in the MFN2 gene, encoding mitofusin-2. This condition is more severe and has an earlier onset as compared to Charcot-Marie-Tooth disease type 2A2A.


hypotrichosis 8

Any hypotrichosis in which the cause of the disease is a mutation in the LPAR6 gene.


nemaline myopathy 8

An autosomal recessive myopathy caused by mutations in the KLHL40 gene, encoding Kelch-like protein 40. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, and typically involves proximal muscles, the face, bulbar and respiratory muscles.


multiple epiphyseal dysplasia, Al-Gazali type

Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia, macrocephaly and facial dysmorphism.


Seckel syndrome 4

Any Seckel syndrome in which the cause of the disease is a mutation in the CENPJ gene.


congenital heart defects, multiple types, 2

Any congenital heart malformation in which the cause of the disease is a mutation in the TAB2 gene.


root caries

Dental caries involving the tooth root, cementum, or cervical area of the tooth.


nocturnal paroxysmal dystonia

A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night.


prosthesis-related infectious disease

A bacterial infection related to a device used to replace a missing body part. The infection may occur during the operation from direct contamination or post-operatively through hematogenous spread.


inborn disorder of pentose phosphate metabolism


combined pituitary hormone deficiencies, genetic form

Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.


familial atrial fibrillation

An autosomal dominant heart condition that causes disruptions in the heart's normal rhythm. This condition is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular.


autosomal recessive distal spinal muscular atrophy 1

Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features.


Niemann-Pick disease, type C2

Niemann-Pick disease type C2 is a rare metabolic condition that affects many different parts of the body. Although signs and symptoms can develop at any age (infancy through adulthood), most affected people develop features of the condition during childhood. Neimann-Pick disease type C2 may be characterized by ataxia (difficulty coordinating movements), vertical supranuclear gaze palsy (inability to move the eyes vertically), poor muscle tone, hepatosplenomegaly (enlarged liver and spleen), interstitial lung disease, intellectual decline, seizures, speech problems, and difficulty swallowing. Niemann-Pick disease type C2 is caused by changes (mutations) in the NPC2 gene and is inherited in an autosomal recessive manner. There is, unfortunately, no cure for Niemann-Pick disease type C2. Treatment is based on the signs and symptoms present in each person.


hypomagnesemia 7, renal, with or without dilated cardiomyopathy


Larsen syndrome

Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate.


acquired factor X deficiency

An bleeding disorder with a decreased antigen and/or activity of factor X (FX) that is acquired. Acquired factor X deficiency is a rare disorder, commonly associated with a preceding viral illness and a circulating FX inhibitor. Although multiple treatment modalities have been described with variable success, in many cases, it is a self-limited condition.


mosaic translocation Down syndrome

Translocation Down syndrome in which the extra (partial or total) copy of chromosome 21 attached to another chromosome is present in some of the cells of the organism.


arbovirus fever

Arbovirosis are polymorphic diseases caused by arboviruses and are classically characterized by encephalitis and hemorrhage, however, most commonly only aspecific fever is observed.


cauda equina cancer

A cancer that involves the cauda equina.


endometrioid stromal sarcoma of the vagina

A rare sarcoma that arises from the vagina. This category includes low grade endometrioid stromal sarcoma and undifferentiated vaginal sarcoma.


uterine corpus adenosarcoma

A primary polypoid malignant neoplasm of the uterine corpus characterized by the presence of a sarcomatous mesenchymal component and a benign epithelial component. Patients usually present with abnormal vaginal bleeding. It is considered a low grade malignant neoplasm and may recur following resection.


palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome

Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown.


eye neoplasm

A neoplasm (disease) that involves the eye.


focal facial dermal dysplasia

Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies.


X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome is a rare genetic neurometabolic disease characterized by severe intellectual disability, spastic quadraparesis, Leber´s congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter), described on magnetic resonance imaging, have been reported. High prenatal α-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination.


short stature due to growth hormone qualitative anomaly

Short stature due to growth hormone qualitative anomaly is characterised by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive.


sick sinus syndrome 1

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


isolated microphthalmia 7

Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF3 gene.


X-linked form of Dyggve-Melchior-Clausen disease.


congenital anemia

Anemia, the cause of which is present at birth.


chromosome 3q29 microduplication syndrome

3q29 microduplication is a chromosomal abnormality associated with variable clinical findings including mild or moderate intellectual deficit and microcephaly.


optic atrophy 10 with or without ataxia, intellectual disability, and seizures


disorder of mineral absorption and transport


chromosome 9p deletion syndrome

Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis.


autosomal recessive extra-oral halitosis


familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis

Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN).


16p12.1p12.3 triplication syndrome

16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers.


sublingual gland neoplasm

A neoplasm (disease) that involves the sublingual gland.


mitochondrial complex V (ATP synthase) deficiency nuclear type 4

Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the ATP5F1A gene.


malignant testicular germ cell tumor

A malignant tumor predominantly affecting young men and often associated with cryptorchidism. Seminoma is the most frequently seen malignant testicular germ cell tumor, followed by embryonal carcinoma and yolk sac tumor.


hyperlipidemia due to hepatic triglyceride lipase deficiency

Hyperlipidemia due to hepatic triacylglycerol lipase deficiency is a rare, genetic hyperalphalipoproteinemia characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated.


microtriplication 11q24.1

Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophris, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia.


Orthocoronavirinae infectious disease

Infectious disease causes by viruses in the subfamily Orthocoronavirinae (coronaviruses). In humans, coronaviruses cause respiratory tract infections that can be mild, such as some cases of the common cold (among other possible causes, predominantly rhinoviruses), and others that can be lethal, such as SARS, MERS, and COVID-19.


benign neoplasm of lip

A benign neoplasm that involves the lip.


familial hyperaldosteronism type III

Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia.


basal ganglia calcification, idiopathic, 7, autosomal recessive


autoimmune progesterone dermatitis

Autoimmune progesterone dermatitis (APD) is primarily characterized by a recurrent skin rash that varies in severity depending on the phase of the menstrual cycle. The rash generally appears during the second half of the cycle when levels of the hormone, progesterone, begin to rise and it subsides shortly after menstruation. Although the exact underlying cause of APD is not well understood, it is thought to involve an abnormal immune reaction (autoimmune response) triggered by a woman's own progesterone. Depending on the severity of the condition, treatment may include topical (applied to the skin) medications, systemic corticosteroids, hormone therapy to suppress the production of progesterone, and/or surgical removal of the ovaries.


acute encephalopathy with biphasic seizures and late reduced diffusion

Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a rare childhood-onset epilepsy syndrome associated with infection and characterized by a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. Neurological outcomes of AESD vary from normal to mild or severe sequelae including cerebral atrophy, mental retardation, paralysis and epilepsy.


atypical Rett syndrome

A neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT).


spinocerebellar ataxia type 27

Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia.


idiopathic recurrent and disabling cutaneous herpes


Leber congenital amaurosis 5

Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LCA5 gene.


gastrointestinal allergy

A allergic disease that involves the digestive tract.


neurodevelopmental disorder with cerebellar hypoplasia and spasticity


nephronophthisis 16

Any nephronophthisis in which the cause of the disease is a mutation in the ANKS6 gene.


vasoproliferative tumor of retina

Vasoproliferative tumor of the retina is a rare, benign, retinal vascular disease characterized by solitary or multiple, unilateral or bilateral, intra-retinal tumor(s), usually located in the peripheral infero-temporal quadrant, and often associated with sub- and intraretinal exudates, epiretinal membranes, exudative retinal detachment and cystoid macular edema, as well as, occasionally, retinal and vitreous hemorrhage. Patients may present with visual loss, floaters, and/or photopsia. Association with various conditions, such as retinitis pigmentosa, congenital retinal toxoplasmosis, retinopathy of prematurity, or coloboma, has been reported.


syndromic orbital border hypoplasia

Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct.


cervical carcinosarcoma

A mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign or malignant epithelial elements. This category includes adenosarcoma and carcinosarcoma.


congenital merosin-deficient muscular dystrophy 1A

Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.


germinomatous germ cell tumor

A term that refers to germinoma, seminoma, or dysgerminoma.


OPA1-related optic atrophy with or without extraocular features

Any primary mitochondrial disease in which the cause of the disease is monoallelic or biallelic variants in the OPA1 gene. While optic atrophy is present in most affected cases, OPA1 is a mitochondrial protein and thus features of this disease include abnormal mitochondrial morphology and multiple mitochondrial DNA deletions, and can affect other organ systems and. Extraocular features can include progressive sensorineural hearing impairment, cognitive impairment, peripheral neuropathy, myopathy, ragged-red muscle fibers, and exercise-induced lactic acidemia, while additional ocular features can include progressive visual loss, central scotoma, and color vision abnormalities.


primary ciliary dyskinesia 21

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DRC1 gene.


woolly hair, autosomal recessive 3

Any woolly hair in which the cause of the disease is a mutation in the KRT25 gene.


hypomyelinating leukodystrophy 9

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


microphthalmia, syndromic 11

Any syndromic microphthalmia in which the cause of the disease is a mutation in the VAX1 gene.


Shwachman-Diamond syndrome 2

Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia ({1:Stepensky et al., 2017}).nnFor a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (OMIM:260400).


childhood kidney angiomyolipoma

An angiomyolipoma occurring in childhood.


congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome


spinocerebellar ataxia 43

Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor.


autosomal recessive limb-girdle muscular dystrophy type 2H

Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.


mitochondrial DNA depletion syndrome 15 (hepatocerebral type)

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


hyperekplexia 2

Any hereditary hyperekplexia in which the cause of the disease is a mutation in the GLRB gene.


autosomal recessive nonsyndromic hearing loss 23

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PCDH15 gene.


acute myeloid leukemia, t(11;19)(q23.3;p13.3)

Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23.3;p13.3). (A cytogenetic abnormality that refers to the translocation of the long arm (q23.3) of chromosome 11 and the short arm (p13.3) of chromosome 19. It is associated with KMT2A (MLL)/MLLT1 (ENL) fusions and acute myeloid leukemia.)


Meier-Gorlin syndrome

Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure).


retinitis pigmentosa 33

Any retinitis pigmentosa in which the cause of the disease is a mutation in the SNRNP200 gene.


atypical hemolytic-uremic syndrome with thrombomodulin anomaly


sympathetic ophthalmia

Sympathetic ophthalmia (SO) is a bilateral granulomatous anterior uveitis usually occurring within the three months following trauma or a surgical procedure involving one eye.


cutaneous syphilis

Cutaneous lesions arising from infection with Treponema pallidum. In the primary stage, 18-21 days following infection, one or more chancres appear. If untreated, the subsequent stages of the disease appear as syphilids. These eruptions are superficial, nondestructive, exanthematic, transient, macular roseolas that may later be maculopapular or papular polymorphous or scaly, pustular, pigmented eruptions.(Arnold, Odom, and James, Andrew's Diseases of the Skin, 8th ed, p409)


juvenile xanthogranuloma

A benign histiocytic tumor that occurs during childhood; it is distinct from Langerhans cell histiocytosis. It is characterized by the presence of lipid-laden, foamy histiocytes and Touton-type giant cells in the dermis. The lesions usually develop during infancy. They consist of cutaneous papules and nodules (most often in the head and neck). It is sometimes associated with deep soft tissues nodules.


benign osteogenic neoplasm

A non-metastasizing bone-forming neoplasm. This category includes osteoma, osteoid osteoma, and osteoblastoma.


acquired fructose intolerance

Acquired fructose intolerance is a condition in which the body can not properly absorb the sugar, fructose. As a result, affected people may experience gastrointestinal symptoms, such as gas, abdominal pain, bloating and/or diarrhea, depending on the quantity of fructose consumed and the presence of other sugars ingested with it. Gastrointestinal symptoms related to acquired fructose intolerance appear to be more common in people who have an underlying functional bowel disorder such as irritable bowel syndrome. The underlying cause of the condition is poorly understood. It is distinct from the rare, genetic form of fructose intolerance (called hereditary fructose intolerance), which usually develops earlier in life and often affects more than one family member. Acquired fructose intolerance is generally managed with dietary modifications.


myopathy, reducing body, X-linked, early-onset, severe


immunodeficiency 80 with or without congenital cardiomyopathy

An autosomal recessive immunologic disorder with variable manifestations. One patient with infantile-onset of chronic cytomegalovirus (CMV) infection associated with severely decreased NK cells has been reported. Another family with 3 affected fetuses showing restrictive cardiomyopathy and hypoplasia of the spleen and thymus has also been reported.


Mullerian derivatives-lymphangiectasia-polydactyly syndrome is characterised by prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, postaxial polydactyly and cryptorchidism. Mullerian duct remnants, lymphangiectasis, and renal anomalies are also present. Three cases have been described. A small penis was observed in two of these cases. The syndrome is likely to be an autosomal recessive or X-linked trait. All the reported patients died neonatally of hepatic failure.


tuberculous oophoritis

An urogenital tuberculosis involving a pathogenic inflammatory response in the ovary.


2q33.1 microdeletion syndrome

2q33.1 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features inlcude high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioral problems (e.g. hyperactivity, chaotic/repetitive behavior, touch avoidance) are also associated.


extratemporal epilepsy

An epilepsy syndrome that is located in an area of the brain other than the temporal lobe.


partial deletion of the long arm of chromosome 11

A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 11.


focal, segmental or multifocal dystonia

A rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions.


benign metastasizing leiomyoma

A rare disorder that affects women with a history of uterine leiomyoma, which is found to metastasise within extrauterine sites.The disease develops as a proliferation of multiple nodules composed of smooth muscle cells.The most frequent site of metastasis is the lungs, although other areas may also be affected as well, including some atypical locations, e.g. the heart or spinal cord.


distal monosomy 14q

Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and oftalmological anomalies were also reported.


syndromic X-linked intellectual disability Raymond type

A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has material basis in mutation in the ZDHHC9 gene on chromosome Xq26.1.


acquired thrombotic thrombocytopenic purpura

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


multiminicore myopathy

A hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy.


isolated growth hormone deficiency type III


geleophysic dysplasia 2

Any geleophysic dysplasia in which the cause of the disease is a mutation in the FBN1 gene.


vaginal adenosarcoma

A malignant mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant mesenchymal component and a benign or atypical mullerian-type epithelial component.


Bartholin's gland disease

A female reproductive system disease that is located in Bartholin's gland.


non-syndromic central nervous system malformation

A central nervous system malformation that is not part of a larger syndrome.


familial antiphospholipid syndrome

Autosomal dominant form of antiphospholipid syndrome.


palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome


Duane anomaly-myopathy-scoliosis syndrome is characterised by the association of bilateral Duane anomaly type 3, severe scoliosis of early onset, congenital myopathy with hypotonia without muscular weakness, delayed motor development, and short stature. It has been described in one pair of sibs. The Duane type 3 anomaly consists of eye abduction and adduction palsy, globe retraction and narrowing of the palpebral fissure. Muscular biopsy shows aspecific myopathy. Intellectual development is normal. The syndrome is most likely inherited in an autosomal recessive manner. It differs from the Crisfield-Dretakis-Sharpe syndrome, in which short stature and muscular features are absent. Surgery of the scoliosis is necessary. Functional prognosis depends on the severity of the visual handicap.


symbrachydactyly of hands and feet

Symbrachydactyly of hands and feet is a rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails.


non-syndromic unicoronal and sagittal craniosynostosis


retinitis pigmentosa Y-linked

Y-linked form of retinitis pigmentosa.


classic galactosemia

Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.


neonatal period electroclinical syndrome

An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age.


sialidosis type 1

Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis, characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life.


GPR179-related retinopathy

An inherited retinopathy caused by bi-allelic variants in the GPR179 gene.


papillary meningioma

A WHO grade III meningioma characterized by the predominance of a perivascular pseudopapillary pattern.


residual stage corticosteroid-induced glaucoma


autosomal dominant intermediate Charcot-Marie-Tooth disease

Autosomal dominant form of intermediate Charcot-Marie-Tooth disease.


renal nutcracker syndrome

A rare, syndromic renal disease characterized by the entrapment of left renal vein (LRV) between the superior mesenteric artery (SMA) and the abdominal aorta, resulting in increased luminal pressure, renal hilar varices, hematuria and, at the microscopic level, rupture of thin-walled veins into the collecting system in renal fornices.


spermatogenic failure

A male infertility characterized by dirsuption of the process of sperm development from diploid cells into mature haploid spermatozoa.


chronic venous insufficiency

Chronic form of venous insufficiency (disease).


ectodermal dysplasia with natal teeth, Turnpenny type

Ectodermal dysplasia with natal teeth, Turnpenny type is characterised by hypo- or oligodontia and acanthosis nigricans. It has been described in four generations of one family. Onset generally occurs during adolescence. Some patients were born with multiple teeth. Hair anomalies (sparse body and scalp hair) were also reported. Inheritance is autosomal dominant.


congenital urachal anomaly

Congenital urachal anomaly (CUA) describes a group of urachal remnants, found more frequently in males than females, that result from incomplete closure of the urachus (an embryological remnant of the allantois) during prenatal development, and that are usually asymptomatic (and found as an incidental finding on a radiological study) but can also present with umbilical discharge (in patent urachus or urachal sinus), infraumblical mass and pain, or with complications such as obstruction and infection. CUAs include patent urachus, urachal sinus, urachal cyst and urachal diverticulum.


autosomal recessive isolated diffuse palmoplantar keratoderma

Autosomal recessive form of isolated diffuse palmoplantar keratoderma.


testicular germ cell tumor

A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor.


nerve plexus disorder

A disease that involves the nerve plexus.


acute salpingo-oophoritis

Acute form of salpingo-oophoritis.


spondylometaphyseal dysplasia, Schmidt type

Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet.


eccrine sweat gland cancer

An cancer with eccrine differentiation arising from the sweat glands.B


diastrophic dysplasia

Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).


retinitis pigmentosa 32

A retinitis pigmentosa that has material basis in variation in the chromosome region 1p21.3-p13.3.


angiomyomatous hamartoma

An uncommon benign proliferation of smooth muscle, blood vessels, collagenous stroma, and adipocytes, most commonly affecting inguinal lymph node.


bone fragility with contractures, arterial rupture, and deafness

A rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features.


cerebral sinovenous thrombosis

A rare but serious cerebrovascular disorder involving thrombosis of the cerebral venous system. It affects children from the newborn period through childhood and adolescence. In childhood CSVT, acute infections of the head and neck such as mastoiditis are most common, followed by chronic underlying diseases such as nephrotic syndrome, cancer, and inflammatory bowel disease. Signs and symptoms are also age related. Seizures and altered mental status are the commonest manifestations in newborns. Headache, vomiting, and lethargy, sometimes with 6th nerve palsy, are the most common symptoms in children and adolescents.


advanced heart failure

Patients with advanced heart failure have severe limitations, experiences symptoms even while at rest and are mostly bedbound patients.


T-B- severe combined immunodeficiency

T-B- severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types.


posterior polymorphous corneal dystrophy 2

Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the COL8A2 gene.


double outlet right ventricle with subpulmonary ventricular septal defect


nephronophthisis 2

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


myositis ossificans

A disorder characterized by non-neoplastic bone formation in soft tissues. It usually follows blunt trauma and bleeding in the deep soft tissues.


neurodevelopmental disorder with impaired speech and hyperkinetic movements


optic tract meningioma

A meningioma that affects the visual pathway.


intellectual disability, autosomal recessive 50

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the EDC3 gene.


basidiobolomycosis

A disease caused by infection with Basidiobolus.


congenital disorder of glycosylation, type IIw


familial pityriasis rubra pilaris

A rare chronic papulosquamous disorder of unknown etiology characterized by small follicular papules, scaly red-orange patches, and palmoplantar hyperkeratosis, which may progress to plaques or erythroderma. Although most of the cases are sporadic and acquired, a familial form of the disease exists.


arthrogryposis, renal dysfunction, and cholestasis 2

Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VIPAS39 gene.


autosomal dominant osteosclerosis, Worth type

A sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture.


Charcot-Marie-Tooth disease axonal type 2L

Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow.


frontorhiny

Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed.


acquired Creutzfeldt-Jakob disease

An instance of Creutzfeldt Jacob disease that is acquired during the lifetime of the individual.


CNS demyelinating autoimmune disease

Conditions characterized by loss or dysfunction of myelin (see myelin sheath) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or oligodendroglia associated autoantigens.


acute myeloid leukemia, t(1;22)(p13;q13)

An acute myeloid leukemia typically showing megakaryocytic maturation and associated with t(1;22)(p13;q13), resulting in the expression of RBM15-MKL1 fusion protein.


microcephalic osteodysplastic dysplasia, Saul-Wilson type

A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has material basis in heterozygous mutation in COG4 on chromosome 16q22.1.


carcinosarcoma

A malignant tumor composed of a mixture of carcinomatous and sarcomatous elements.


ataxic cerebral palsy

A form of cerebral palsy caused by damage to cerebellar structures.


coronary restenosis

Recurrent narrowing or constriction of a coronary artery following surgical procedures performed to alleviate a prior obstruction.


cadmium poisoning

Poisoning occurring after exposure to cadmium compounds or fumes. It may cause gastrointestinal syndromes, anemia, or pneumonitis.


cervical intraepithelial neoplasia grade 2/3

A neoplastic process in the cervix characterized by morphologic features of both moderate and severe intraepithelial neoplasia.


congenitally uncorrected transposition of the great arteries with cardiac malformation


autosomal dominant nonsyndromic hearing loss 18

An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 3q22.


retinitis pigmentosa 40

Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6B gene.


PLG-related hereditary angioedema with normal C1inh


Duane syndrome type 1

Duane syndrome type 1 is the most common type of Duane syndrome, an eye movement disorder that is present at birth. People with Duane syndrome have restricted ability to move the affected eye(s) outward toward the ear (abduction) and/or inward toward the nose (adduction). The different types are distinguished by the eye movements that are most restricted. Duane syndrome type 1 is characterized by absent to very restricted abduction and normal to mildly restricted adduction. The eye opening (palpebral fissure) narrows and the eyeball retracts into the orbit with adduction. With abduction, the reverse occurs. One or both eyes may be affected. The majority of cases are sporadic (not inherited), while about 10% are familial. 70% of affected people do not have any other abnormalities at birth (isolated Duane syndrome). Treatment is mainly supportive and may include glasses or contact lenses for vision correction, eye patches, or surgery.


hereditary spastic paraplegia 7

Autosomal recessive spastic paraplegia type 7 is a form of hereditary spastic paraplegia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia.


microcephalic primordial dwarfism due to ZNF335 deficiency

Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.


craniosynostosis intellectual disability heart defects


qualitative or quantitative defects of myotubularin


childhood neoplasm

A benign or malignant neoplasm arising during childhood.


adrenal cortex disorder

A disease involving the adrenal cortex.


autosomal recessive nonsyndromic hearing loss 26

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q31.


thrombocythemia 3

Familial thrombocytosis in which the cause of the disease is a mutation in the JAK2 gene.


MOGS-congenital disorder of glycosylation

MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1).


orbital cancer

A primary or metastatic malignant neoplasm involving the orbit.


ring chromosome 15

Ring chromosome 15 is a chromosome abnormality that affects growth, learning, and speech. People with ring chromosome 15 often have growth delays before and after birth, resulting in short stature; varying degrees of intellectual disability ; low muscle tone (hypotonia); craniofacial malformations; and limb abnormalities. Other symptoms might include congenital heart defects, kidney problems, congenital dislocation of the hips, and cafe-au-lait spots. Ring chromosome 15 is caused by an abnormal chromosome known as a ring chromosome 15 or r(15). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and the broken ends fuse together. The features of ring chromosome 15 appear to result from the loss (deletion) of genetic material from the long (q) arm of chromosome 15. Ring chromosome 15 is usually caused by spontaneous (de novo) errors very early in embryonic development. In rare cases, it is passed through families, either from a parent who also has a ring chromosome 15, or from a parent who has a balanced translocation. Treatment for ring chromosome 15 is focused on addressing the symptoms present in each individual and may require a team of medical specialists.


hereditary progressive chorea without dementia


benign deep fibrous histiocytoma

A rare, well-circumscribed, pseudo-encapsulated benign fibrous histiocytoma that arises entirely within the subcutaneous tissue or deep soft tissue. It usually affects the extremities or the head and neck region. It recurs locally in a minority of cases.


benign neoplasm of submandibular gland

A benign neoplasm that involves the submandibular gland.


ichthyosis, congenital, autosomal recessive 13


extraosseous osteosarcoma

An osteosarcoma arising from the soft tissue.


immunodeficiency 39

Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IRF7 gene.


glottis neoplasm

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


Niemann-Pick disease type C, severe perinatal form


semilobar holoprosencephaly

Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly.


congenital absence of thigh and lower leg with foot present


Krabbe disease

A lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms.


Astrakhan spotted fever

An infectious disease of the Astrakhan region, Chad, Kosovo, caused by infection with rickettsia conorii subsp. caspia.


disease of orbital part of eye adnexa

Diseases of the bony orbit and contents except the eyeball.


mucous membrane pemphigoid

Mucous membrane pemphigoid is a bullous dermatosis characterised clinically by blistering of the mucous membranes followed by scarring, and immunologically by IgG, IgA and/or C3 deposits on the epidermal basement membrane.


genetic macular dystrophy

Macular dystrophy that is related to a change in a gene.


upper digestive tract disorder

A disease or disorder that involves the upper digestive tract.


idiopathic aplastic anemia

Aplastic anemia without a known cause.


antidepressant type abuse

A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences.


lethal recessive chondrodysplasia

Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988.


pyomyositis

Pyomyositis (PM) is a rare primary bacterial infection of the skeletal muscle, usually resulting from hematogenous spread or due to muscle injury, and characterized by pain and tenderness in the affected muscle, fever and abscess formation.


hantavirus infectious disease

Any infection caused by a virus of the genus Hantavirus, which is transmitted by aerosolized rodent excreta or rodent bites, that can result in a variety of clinical manifestations from hemorrhagic fever with renal syndrome to a pulmonary syndrome.


acrofacial dysostosis, Catania type

Acrofacialdysostosis, Catania type is a very rare type of acrofacialdysostosis characterized by mild intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males.


cone-rod dystrophy 11

Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAX2 gene.


partial duplication of the long arm of chromosome 10


familial episodic pain syndrome with predominantly upper body involvement


choanal atresia, unilateral

Unilateral choanal atresia is a, usually sporadic, congenital anomaly that is more commonly seen in females than in males (2:1), where the nose is blocked by bony or soft tissue formed during embryologic development on only one side (more commonly on the right side) and which is characterized by nasal obstruction and rhinorrhea, usually presenting at birth but that may go undetected until a respiratory infection aggravates the condition.


acute myeloid leukemia with multilineage dysplasia

An acute myeloid leukemia arising de novo and not as a result of treatment. It is characterized by the presence of myelodysplastic features in at least 50% of the cells of at least two hematopoietic cell lines. Patients often present with severe cytopenia.


severe hemophilia B

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


parenchymatous neurosyphilis

A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has symptom irritability, has symptom difficulty concentrating, has symptom deterioration of memory, has symptom defective judgment, has symptom headaches, has symptom insomnia, has symptom fatigue, and has symptom lethargy.


Currarino triad

Currarino syndrome (CS) is a rare congenital disease characterized by the triad of anorectal malformations (ARMs) (usually anal stenosis), presacral mass (commonly anterior sacral meningocele (ASM) or teratoma) and sacral anomalies (i.e. total or partial agenesis of the sacrum and coccyx or deformity of the sacral vertebrae).


SPOAN syndrome

A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2.


disorder of sex development-intellectual disability syndrome

A rare syndrome with 46,XY disorder of sex development characterized by variable degrees of intellectual disability, short stature, severe genital anomalies resulting in sexual ambiguity (such as pseudovaginal perineoscrotal hypospadias and persistence of Müllerian structures), and ocular anomalies (microphthalmia, coloboma). Craniofacial peculiarities (coarse features, deep set eyes), spina bifida, imperforate anus, and sensorineural hearing loss were also described. No new cases have been reported since 1994.


NTRK fusion positive cancer

Neoplasm associated with the expression of a Neurotrophic Tyrosine Receptor Kinase (NTRK) Fusion. NTRK fusion-positive tumors have been identified in a broad range of solid tumor types, including breast, cholangiocarcinoma, colorectal, gynecological, neuroendocrine, non-small cell lung, salivary gland, pancreatic, sarcoma and thyroid cancers.


ganglion or cyst of synovium/tendon/bursa


centronuclear myopathy

Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy.


Castleman disease

Castleman disease (CD) is a benign lymphoproliferative disorder that may present as a localized or multicentric form. The clinical manifestations are heterogeneous, ranging from asymptomatic discrete lymphadenopathy to recurrent episodes of diffuse lymphadenopathy with severe systemic symptoms.


neurodevelopmental disorder with microcephaly and structural brain anomalies


neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities


nephronophthisis 13

A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14.


TH-deficient dopa-responsive dystonia

Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.


mitochondrial complex 4 deficiency, nuclear type 7


ventricular septal defect 2

Any ventricular septal defect in which the cause of the disease is a mutation in the CITED2 gene.


central nervous system chondroma

An extraskeletal chondroma usually arising from the dura.


gonococcal seminal vesiculitis

A gonorrhea that involves the seminal vesicle.


prostate lymphoma

A rare non-Hodgkin or Hodgkin lymphoma that arises from the prostate gland.


immunodeficiency 97 with autoinflammation

An autosomal recessive complex immunologic disorder with variable features. Affected individuals present in the first decade of life with inflammatory interstitial lung disease or colitis due to abnormal tissue infiltration by activated T cells. Patients develop autoimmune cytopenias and may have lymphadenopathy; 1 reported patient had features of hemophagocytic lymphohistiocytosis (HLH). Some patients may have recurrent infections associated with mild lymphopenia, hypogammaglobulinemia, and NK cell dysfunction. Immunologic workup indicates signs of significant immune dysregulation with elevation of inflammatory serum markers, variable immune cell defects involving neutrophils, NK cells, and myeloid cells, and disrupted levels of T regulatory cells (Tregs). Two unrelated patients have been reported.


partial deletion of the short arm of chromosome 19


cataract 46 juvenile-onset

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LEMD2 gene.


hereditary myopathy with lactic acidosis due to ISCU deficiency

Aconitase deficiency is characterised by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.


sphenoid sinusitis

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


Miyoshi muscular dystrophy 1

Any Miyoshi myopathy in which the cause of the disease is a mutation in the DYSF gene.


demyelinating disease

A broad group of disorders that affect the myelin sheaths that cover the neurons. Myelin sheathes cover neuronal axons in the central and peripheral nervous system and function to increase travelling impulse speeds. Disruption of this sheath impairs neuronal transmission and can result in disorders such as multiple sclerosis and Guillain-Barre syndrome, among others.


KIF1A related neurological disorder

KIF1A-associated neurological disorder (KAND) encompasses a group of rare neurodegenerative conditions caused by variants in KIF1A


benign cystic nephroma

A benign encapsulated neoplasm of the kidney, characterized by the presence of cysts separated by septa. There are no solid areas present. The septa are lined by one layer of epithelial cells that have eosinophilic or clear cytoplasm. The cystic spaces contain serous or hemorrhagic fluid.


Schistosoma intercalatum infectious disease

An disease or disorder caused by infection with Schistosoma intercalatum.


maxillary sinus cholesteatoma

A rare, progressive, non-neoplastic pathologic process that arises from the maxillary sinus mucosal epithelium. It is characterized by the proliferation of keratinizing squamous epithelium and the formation of keratin sheets. It may lead to bone erosion and infections. Surgical removal is the appropriate treatment.


sexual sadism disorder

A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving acts (real, not simulated) in which the psychological or physical suffering of a victim is sexually exciting to the individual.


chronic thromboembolic pulmonary hypertension

Chronic thromboembolic pulmonary hypertension (CTEPH) is characterized by the persistence of thromboemboli in the form of organized tissue obstructing the pulmonary arteries. The consequence is an increase in pulmonary vascular resistance (PVR) resulting in pulmonary hypertension (PH) and progressive right heart failure.


post-vaccinal encephalitis

An acute or subacute inflammatory process of the central nervous system characterized histologically by multiple foci of perivascular demyelination. Symptom onset usually occurs several days after an acute viral infection or immunization, but it may coincide with the onset of infection or rarely no antecedent event can be identified. Clinical manifestations include confusion, somnolence, fever, nuchal rigidity, and involuntary movements. The illness may progress to coma and eventually be fatal. (Adams et al., Principles of Neurology, 6th ed, p921)


spastic paraplegia 84, autosomal recessive


bone remodeling disease

A bone disease that results in formation or resorption abnormalities located in bone.


malignant tumor of palpebral epidermis

A cancer that involves the skin of eyelid.


diffuse leptomeningeal melanocytosis

Diffuse leptomeningeal melanocytosis is a rare tumor of meninges arising from leptomeningeal melanocytes, characterized by diffuse infiltration of the leptomeninges (pia mater and arachnoidea) anywhere in the central nervous system. Clinical features may include stillbirth, intracranial hypertension and hydrocephalus, seizure, ataxia, syringomyelia, cranial nerve palsy, intracranial haemorrhage, sphincter dysfunction and neuropsychiatric symptoms. Transformation into malignant melanoma of the central nervous system was reported. It may be associated with congenital nevi, as a part of neurocutaneous melanosis.


idiopathic syringomyelia

Idiopathic syringomyelia is a rare, non-syndromic central nervous system malformation characterized by a longitudinally oriented fluid-filled cavity inside the spinal cord parenchyma or the central canal, without any readily identifiably cause. It is usually associated with pain, sensory and/or musculoskeletal disturbances, but it can also be an incidental and asymptomatic finding.


XY type gonadal dysgenesis-associated anomalies syndrome

Gonadal dysgenesis with multiple anomalies is an association syndrome described only once in two sisters aged 1 1/2 and 8 1/2 years. They had a 46,XY karyotype, cleft lip and palate, preauricular pits, and a 'squashed down' appearance because of a short columella and small nares. Other anomalies included broad hands and feet, and a hypermuscular appearance. Cardiac, renal, musculoskeletal, and ectodermal anomalies were also present. Ectodermal defects included 'punched out scalp defects' and unusual positioning of hair whorls. They also had short stature, streak gonads, and mild developmental delay. The mode of inheritance is most likely autosomal recessive.


Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive


autosomal systemic lupus erythematosus type 16

An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3.


Fanconi anemia complementation group T

Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene.


alexia without agraphia

Loss of the power to comprehend written materials despite preservation of the ability to write (i.e., alexia without agraphia). This condition is generally attributed to lesions that 'disconnect' the visual cortex of the non-dominant hemisphere from language centers in the dominant hemisphere. This may occur when a dominant visual cortex injury is combined with underlying white matter lesions that involve crossing fibers from the occipital lobe of the opposite hemisphere. (From Adams et al., Principles of Neurology, 6th ed, p483)


childhood-onset epilepsy syndrome

A epilepsy syndrome that occurs during childhood.


lobomycosis

A chronic, fungal, subcutaneous infection endemic in rural regions in South America and Central America. The causal organism is Lacazia labol.


intralobar congenital pulmonary sequestration


diphtheritic cystitis

A cystits which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder.


pseudoaminopterin syndrome

Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature.


isolated hereditary giant platelet disorder


amyotrophic lateral sclerosis-parkinsonism-dementia complex


alpha thalassemia-intellectual disability syndrome type 1

Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.


superior limbic keratoconjunctivitis

Superior limbic keratoconjunctivitis (SLK) is a chronic and recurrent eye disease which affects thesuperior bulbar conjunctiva (the clear layer that covers the eyeball, over the sclera) and tarsal conjunctiva (the clear layer that lines the eyelids), as well as the superior limbic aspect of the cornea (the area above the cornea). It is commonly found in women 20-70 years of age. The signs and symptoms include burning, redness and irritation and tend to develop slowly over a period of 1 to 10 years.Vision usually remains intact. While the underlying cause ofSLK remains unknown, it is believed that the condition issecondary to superior bulbar conjunctiva laxity. Factors inducing conjunctiva laxity include thyroid eye disease (usually hyperthyroidism), tight upper eyelids, and prominent globes. A mimicking disorder has been encountered in soft contact lens (SCL) wearers, typically with exposure to thimerosal-preserved solutions. Treatment of SLK may involve the use of various medications, surgery, or a combination of both.


plastic bronchitis

A lymphatic flow disorder that causes severe respiratory issues. In children with plastic bronchitis, lymph fluid builds in the airways and forms rubbery or caulk-like plugs (known as casts). These casts block the airways, making it difficult to breathe.


glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form


deltaretrovirus infections

Infections caused by the HTLV or BLV deltaretroviruses. They include human T-cell leukemia-lymphoma (LEUKEMIA-LYMPHOMA, T-CELL, ACUTE, HTLV-I-ASSOCIATED).


hereditary neurocutaneous angioma

Hereditary neurocutaneous angioma is characterised by the association of cerebral and cutaneous angiomatous lesions. It has been described in less than 10 families. Clinical manifestations of the cerebral lesions include epilepsy, cerebral haemorrhage, and focal neurological deficit. Transmission is autosomal dominant.


autosomal recessive complex spastic paraplegia type 9B

Any autosomal recessive complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene.


alopecia-intellectual disability syndrome 1


dentin dysplasia type II

Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD) characterized by normal tooth roots but abnormal primary dentition.


orofaciodigital syndrome XI

Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects.


mitochondrial complex I deficiency

A type of mitochondrial disease charcterized by macrocephaly (large head) with progressive leukodystrophy, encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. The disease is caused by mutations in any of many genes and the inheritance pattern depends on the responsible gene.


inborn disorder of purine or pyrimidine metabolism


acrodermatitis

An inflammatory skin condition affecting children. It is often associated with Epstein-Barr virus infection, hepatitis B infection or cytomegalovirus infection. It is characterized by the presence of cutaneous rashes and patches on the palms and soles. The trunk is not affected.


unilateral focal polymicrogyria

Unilateral focal polymicrogyria (BFPP) is the mildest sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement.


retinitis pigmentosa 72

Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF408 gene.


microcephaly 30, primary, autosomal recessive


localized dystrophic epidermolysis bullosa

A localized form of dystrophic epidermolysis bullosa characterized by blisters confined primarily to the hands and feet (acral form) or to the pretibial region (pretibial form). Nail dystrophy or loss is common and may be an isolated finding (nail only form). This disease can be inherited via autosomal dominant or autosomal recessive inheritance.


seminoma

A radiosensitive malignant germ cell tumor found in the testis (especially undescended), and extragonadal sites (anterior mediastinum and pineal gland). It is characterized by the presence of uniform cells with clear or dense cytoplasm which contains glycogen, and by a large nucleus which contains one or more nucleoli. The neoplastic germ cells form aggregates separated by fibrous septa. The fibrous septa contain chronic inflammatory cells, mainly lymphocytes.


gynatresia

A congenital or acquired occlusion of an opening in any part of the female genital tract.


Charcot-Marie-Tooth disease type 4D

Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported.


secondary non-traumatic avascular necrosis


dermatophytosis of scalp or beard

Dermatophytosis involving the stratum corneum of the skin of the scalp and beard area.


Martsolf syndrome 1

This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.


metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome

Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait.


haemonchiasis

Infection with nematodes of the genus haemonchus, characterized by digestive abnormalities and anemia similar to that from hookworm infestation.


central bilateral macrogyria

Central bilateral macrogyria is a neuronal migration disorder characterised by pseudobulbar palsy, developmental delay, mild mental retardation and epilepsy. It has been described in at least four children.


qualitative or quantitative defects of protein ZASP


ureter benign neoplasm

Cancer or tumors of the ureter which may cause obstruction leading to hydroureter, hydronephrosis, and pyelonephritis. hematuria is a common symptom.


steroid lipomatosis

A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the face, upper middle back, and sternal region. It is associated with adrenocortical steroid therapy or an increase in endogenous adrenocortical hormone.


oculogyric crisis

A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes.


tooth agenesis, selective, 9

Any tooth agenesis in which the cause of the disease is a mutation in the GREM2 gene.


mixed phenotype acute leukemia with BCR-ABL1

An acute biphenotypic leukemia that is characterized by blasts that also carry the translocation t(9;22)(q34.1;q11.2) by karyotypic analysis or the BCR-ABL1 translocation by FISH or PCR.


autosomal recessive congenital ichthyosis 1

Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the TGM1 gene.


subcutaneous mycosis

A mycosis that involves subcutaneous tissue. There are three general types of subcutaneous mycoses: chromoblastomycosis, mycetoma, and sporotrichosis.


reactive thrombocytosis

A thrombocytosis caused by an underlying condition, such as an infection.


aplasia cutis-myopia syndrome

Aplasia cutis-myopia syndrome is characterised by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant.


Malan overgrowth syndrome

Malan overgrowth syndrome is a multiple congenital anomalies syndrome characterized by moderate postnatal overgrowth, macrocephaly, craniofacial dysmorphism (including high forehead and anterior hairline, downslanting palpebral fissures, prominent chin), developmental delay, and intellectual disability. Additional variable manifestations include unusual behavior, with or without autistic traits, as well as ocular (e.g. strabismus, nystagmus, optic disc pallor/hypoplasia), gastrointestinal (e.g. vomiting, chronic diarrhea, constipation), musculoskeletal (e.g. scoliosis and pectus excavatum), hand/foot (e.g. long, tapered fingers) and central nervous system (e.g. slightly enlarged ventricles) anomalies.


partial deletion of the long arm of chromosome 2

Chromosome 2q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 2. 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 2q 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.


intellectual disability-obesity-brain malformations-facial dysmorphism syndrome

Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.


desmoid tumor caused by somatic mutation


aldosterone-producing adenoma with seizures and neurological abnormalities

An autosomal dominant condition caused by mutation(s) in the CACNA1D gene, encoding voltage-dependent L-type calcium channel subunit alpha-1D. It is characterized by primary hyperaldosteronism, seizures, and neurologic defects.


20p12.3 microdeletion syndrome

20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism.


intellectual disability, Wolff type

Intellectual disability, Wolff type is a rare intellectual disability syndrome characterized by severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias.


Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis


clivus meningioma

A meningioma that affects the clivus.


mitochondrial membrane transport disorder


abdominal ectopic pregnancy

Ectopic pregnancy characterized by the implantation of the embryo in the peritoneal cavity or abdominal organs.


congenital right-sided heart lesions

Serious heritable structural anomalies of the right side of the heart, including pulmonary atresia, tricuspid valve disease and Ebstein's anomaly, and right ventricular outflow tract obstruction and/or pulmonary stenosis, that are present from birth.


neuroacanthocytosis

Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia.


charcot-marie-tooth disease, axonal, type 2DD


tetanus neonatorum

A syndrome of generalized rigidity with muscle spasms and seizures in the neonatal period resulting from Clostridium tetani toxin production.


secretory apparatus of the lacrimal system anomaly


glossopharyngeal motor neuropathy

Diseases of the ninth cranial (glossopharyngeal) nerve or its nuclei in the medulla. The nerve may be injured by diseases affecting the lower brain stem, floor of the posterior fossa, jugular foramen, or the nerve's extracranial course. Clinical manifestations include loss of sensation from the pharynx, decreased salivation, and syncope. Glossopharyngeal neuralgia refers to a condition that features recurrent unilateral sharp pain in the tongue, angle of the jaw, external auditory meatus and throat that may be associated with syncope. Episodes may be triggered by cough, sneeze, swallowing, or pressure on the tragus of the ear. (Adams et al., Principles of Neurology, 6th ed, p1390)


orotic aciduria without megaloblastic anemia


chromosome 14q11-q22 deletion syndrome

14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism.


reticulohistiocytic granuloma

A rare cutaneous lesion composed of eosinophilic histiocytes, which are often multinucleated. The lesions are yellow-brown papules affecting any part of the body. Patients are usually adult men. The prognosis is excellent. -- 2003


meningothelial meningioma

A WHO grade I meningioma characterized by the presence of tumor cells that form lobules. The tumor cells are generally uniform. Whorls and psammoma bodies are usually not present.


mitochondrial complex 4 deficiency, nuclear type 11


hyalohyphomycosis

An opportunistic infection caused by a heterogeneous group of mitosporic fungi with clear (hyalo-) hyphae in the host. Common causative agents include acremonium; aspergillus; chrysosporium; fusarium; paecilomyces; penicillium; pseudallescheria; scedosporium; and scopulariopsis. Normally a dermatomycoses, it can become invasive in the immunocompromised host.


autosomal agammaglobulinemia

Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.


endometrial hyperplasia without atypia

Simple or complex endometrial hyperplasia characterized by the absence of epithelial atypia.


latent early syphilis

Latent syphilis when infection was acquired less than twelve months previously.


erythrokeratodermia variabilis et progressiva 6


neurofibromatosis-Noonan syndrome

A RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as cafC)-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when cafC)-au-lait spots are present in patients diagnosed with NS).


partial deletion of the long arm of chromosome 4

Chromosome 4q deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the long arm (q) of chromosome 4 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Common features shared by many people with this deletion includedistinctive craniofacial features, skeletal abnormalities, heart defects, intellectual disability, developmental delay, and short stature. Most cases are not inherited, although affectedpeople can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.


chromosome 2q32-q33 deletion syndrome

2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.


autosomal recessive nonsyndromic hearing loss 9

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


osteogenesis imperfecta type 8

Any osteogenesis imperfecta in which the cause of the disease is a mutation in the P3H1 gene.


cataract 13 with adult I phenotype

A cataract that has material basis in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24.


variable age onset epilepsy

An epilepsy syndrome that has an onset during variable ages and stages of life.


MRCS syndrome

MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400.


tropical spastic paraparesis

Tropical spastic paraparesis is a chronic systemic immune-mediated inflammatory myeloneuropathy, more frequently reported in women than in men, that usually presents in adulthood with slowly progressive spastic paraparesis of the lower limbs, bladder and bowel dysfunction, and sensory disturbances in the lower extremities (e.g. paresthesia and dysesthesia) and that is associated with a human T-cell lymphotropic virus type 1 (HTLV-1) infection.


lattice corneal dystrophy type I

Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations.


gonococcal conjunctivitis

Inflammation of the conjunctiva in a newborn due to Neisseria gonorrhoeae which was acquired during labor and delivery.


rete ovarii neoplasm

A benign or malignant neoplasm that arises from the rete ovarii which is located in the ovarian hilus. It includes adenoma, cystadenoma, cystadenofibroma, and adenocarcinoma.


rhinoscleroma

A granulomatous disease caused by klebsiella rhinoscleromatis infection. Despite its name, this disease is not limited to the nose and nasopharynx but may affect any part of the respiratory tract, sometimes with extension to the lip and the skin.


palmoplantar keratoderma-spastic paralysis syndrome


sarcomatosis

The occurrence of several sarcomas in different anatomic locations.


autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome


ectodermal dysplasia 15, hypohidrotic/hair type


intellectual disability, autosomal recessive 30


oculodental syndrome, Rutherfurd type

Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped teeth have also been reported. The syndrome is transmitted as an autosomal dominant trait.


disorder of neutral amino acid transport

An inherited metabolic disease that is has its basis in the disruption of neutral amino acid transport.


grade I lymphomatoid granulomatosis

A lymphomatoid granulomatosis that is characterized by the presence of a polymorphous lymphoid infiltrate without cytologic atypia. Large lymphocytes are absent or rare. By in situ hybridization, EBV-positive cells are infrequently seen.


hidrotic ectodermal dysplasia, Halal type

Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, cafC)-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner.


metachronous kidney Wilms' tumor

Wilms tumor arising in the remaining kidney following treatment of the original Wilms tumor.


Charcot-Marie-Tooth disease, axonal, Type 2HH


disorder of beta and omega amino acid metabolism