intellectual disability, autosomal recessive 18

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MED23 gene.


lymph node palisaded myofibroblastoma

biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:ThingWithTaxon

A myofibroblastoma arising from the inguinal lymph nodes. It is characterized by the presence of nuclear palisading.


familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome


non-distal trisomy 9q

Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported.


malignant testicular Leydig cell tumor

A Leydig cell tumor characterized by a large size, cellular atypia, high mitotic activity, vascular invasion and necrotic changes. The prognosis is usually poor.


gonosome anomaly

Chromosomal disorder in which the chromosomal anomaly involves an gonosome. A gonosome is a chromosome responsible for sex determination. In humans and most animals, the sex chromosomes are designated X and Y.


heart defects-limb shortening syndrome

Heart defects limb shortening is an association disorder combining congenital heart malformation and skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs). It has been described only once in the literature, in two male sibs from Kuwaiti first-cousins. The clinical and radiological features of these patients were reported as a distinct cardioskeletal syndrome.


intellectual disability, autosomal dominant 15

Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCB1 gene.


hyperparathyroidism, transient neonatal

Hyperparathyroidism in an infant less than one month a=of age that resolves spontaneously.


systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease

Systemic mastocytosis with an associated clonal hematological non-mast cell lineage disease is a form of systemic mastocytosis (SM) associated with malignancy (other than mast cell leukemia).


limb transversal defect-cardiac anomaly syndrome


autosomal recessive Ehlers-Danlos syndrome, vascular type

The rare autosomal recessive form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported.


precursor B-cell acute lymphoblastic leukemia

The most frequent type of acute lymphoblastic leukemia. Approximately 75% of cases occur in children under six years of age. This is a good prognosis leukemia. In the pediatric age group the complete remission rate is approximately 95% and the disease free survival rate is 70%. Approximately 80% of children appear to be cured. In the adult age group the complete remission rate is 60-85%. (WHO, 2001)


Scott syndrome

Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity.


meningococcal infection

Infections with bacteria of the species neisseria meningitidis.


autosomal dominant Alport syndrome

Autosomal dominant Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance.Alport syndrome has autosomal dominant inheritance in about 5 percent of cases. People with this form of Alport syndrome have one mutation in either the COL4A3 or COL4A4 gene in each cell.


neonatal dacryocystitis

Inflammation of the lacrimal sac in a newborn due to blocked drainage of tears or infection.


autosomal dominant nonsyndromic hearing loss 16

An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q24.3.


proteasome-associated autoinflammatory syndrome 4


Seckel syndrome 6

Any Seckel syndrome in which the cause of the disease is a mutation in the CEP63 gene.


recessive X-linked ichthyosis

A genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin.


adult familial nephronophthisis-spastic quadriparesia syndrome

This syndrome, associating familial adult medullary cystic disease with spastic quadriparesis has been described in two cases so far. Renal transplantation was successful in those two patients.


malignant mixed epithelial stromal tumor of the kidney

A mixed epithelial stromal tumor of the kidney with malignant stromal features.


non-syndromic bicoronal and metopic craniosynostosis


familial sick sinus syndrome

Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients.


severe hypophosphatasia

Severe hypophosphatasia is a rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization. Individuals often present with these features in infancy or in the perinatal period.


immunodeficiency 72 with autoinflammation


familial adrenal hypoplasia with absent pituitary luteinizing hormone


Escherichia coli meningitis

A form of gram-negative meningitis that tends to occur in neonates, in association with anatomical abnormalities (which feature communication between the meninges and cutaneous structures) or as opportunistic infections in association with immunologic deficiency syndromes. In premature neonates the clinical presentation may be limited to anorexia; vomiting; lethargy; or respiratory distress. Full-term infants may have as additional features fever; seizures; and bulging of the anterior fontanelle. (From Menkes, Textbook of Child Neurology, 5th ed, pp398-400)


round ligament malignant neoplasm

A malignant neoplasm involving the round ligament of uterus.


pruritic urticarial papules and plaques of pregnancy


advanced sleep phase syndrome

A very rare circadian rhythm sleep disorder characterized by very early sleep onset and offset possibly resulting in emotional and physical disruptions.


tuberculous epididymitis

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


complex partial epilepsy

A disorder characterized by recurrent partial seizures marked by impairment of cognition. During the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. Focal motor activity, sensory alterations and automatism may also occur. Complex partial seizures often originate from foci in one or both temporal lobes. The etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy). (From Adams et al., Principles of Neurology, 6th ed, pp317-8)


autosomal recessive nonsyndromic hearing loss 21

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


disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis


isosporiasis

An intestinal infection with Isospora belli.


Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive.


pemphigoid gestationis

A rare pregnancy-associated autoimmune skin disease that is characterized by an itchy rash that develops into blisters. It is most common during the second and third trimesters of pregnancy. It was previously known as herpes gestationis although it has no association with the herpes virus whatsoever.


autosomal recessive nonsyndromic hearing loss 32

An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in variation in the chromosome region 1p22.1-p13.3.


uterine ligament neoplasm

A benign, borderline, or malignant neoplasm that affects the uterine ligaments. Representative examples include Wolffian adnexal tumor, papillary cystadenoma, and adenocarcinoma.


palmoplantar keratoderma, punctate type 1A

Any punctate palmoplantar keratoderma in which the cause of the disease is a mutation in the AAGAB gene.


aberrant subclavian artery

Aberrant subclavian artery is a rare vascular anomaly that is present from birth. It usually causes no symptoms and is oftendiscovered as an incidental finding (such as througha barium swallow or echocardiogram). Occasionally the anomaly causes swallowing difficulty (dysphagia lusoria). Swallowing symptoms in childrenmay present asfeeding difficulty and/or recurrent respiratory tract infection. When aberrant subclavian artery causes no symptoms, treatment is not needed. If the anomaly is causing significant symptoms, treatment may involve surgery. Children with symptomatic aberrant subclavian artery should be carefully evaluated for additional vascular and heart anomalies..


familial hyperthyroidism due to mutations in TSH receptor

Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.


mirror movements 1

Any familial congenital mirror movements in which the cause of the disease is a mutation in the DCC gene.


anauxetic dysplasia

A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation.


short-rib thoracic dysplasia 15 with polydactyly


chromosome 6 disorder

Chromosomal disorder in which chromosome 6 is affected.


autosomal dominant nonsyndromic hearing loss 50

An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has material basis in mutation in the MIRN96 gene on chromosome 7q32.


hypotonia, infantile, with psychomotor retardation and characteristic facies 3

A rare, genetic, syndromic intellectual disability characterized by usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (incl. loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphisms (incl. plagio/brachicephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features.


subcutaneous tissue disorder

A disease involving the superficial fascia.


Adams-Oliver syndrome 4

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


primary progressive freezing gait

Primary progressive freezing gait is a rare, heterogeneous, progressively incapacitating neurodegenerative disease characterized by freezing of gait (usually during the first 3 years), later associating postural instability, eventually resulting in a wheelchair-bound state. Other features may include mild bradykinesia, rigidity, postural tremor, hyperreflexia, speech disorder and dementia. The disease is unresponsive to dopaminergic treatments.


galactokinase deficiency

Galactokinase deficiency is a rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice.


Alzheimer disease 17

An Alzheimer's disease that is characterized by an associated with mutations in the gene TREM2.


pyruvate carboxylase deficiency, severe neonatal type

Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy.


nephronophthisis 19

Any nephronophthisis in which the cause of the disease is a mutation in the DCDC2 gene.


fibular aplasia, tibial campomelia, and oligosyndactyly syndrome


46,XX true hermaphroditism, SRY-positive


polyneuropathy-hand defect syndrome

Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986.


schizophrenia 5

A schizophrenia that has material basis in a mutation on chromosome 6q13-q26.


hypertrophic lichen planus

A form of lichen planus that is characterized by plaques of markedly thickened skin that is often extremely pruritic and localized to the lower legs. It can result in permanent pigmentation and scarring.


mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1

A genetic condition caused by mutation(s) in the MTATP6 gene, encoding ATP synthase subunit a. The disorder is part of a group of congenital defects of complex V (ATP synthase).


intellectual disability, X-linked 41

Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the GDI1 gene.


isolated delta-storage pool disease

Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate mucous/cutaneous hemorrhagic diathesis and bleeding complications after surgery.


Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly.


beta-thalassemia intermedia

Beta-thalassemia (BT) intermedia is a form of BT characterized by mild to moderate anemia which does not or only occasionally requires transfusion.


mild pre-eclampsia

A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation.


Achilles bursitis

An bursitis involving a pathogenic inflammatory response in the calcaneal tendon.


6q terminal deletion syndrome

6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.


gnathodiaphyseal dysplasia

Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission.


microcephaly with or without short stature

Primary microcephaly refers to the clinical finding of a head circumference more than than 3 standard deviations (SD) below the age- and sex-related mean, present at birth. Primary microcephaly is a static developmental anomaly, distinguished from secondary microcephaly, which refers to a progressive neurodegenerative condition. Microcephaly is a disorder of fetal brain growth; individuals with microcephaly have small brains and almost always have intellectual disability, although rare individuals with mild microcephaly (-3 SD) and normal intelligence have been reported. Additional clinical features may include short stature or mild seizures. These clinical features include Seckel syndrome, a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with intellectual disability.


Mansonella ozzardi infection

An infection that is caused by the organism Mansonella ozzardi.


metamphetamine dependence

A drug dependence that is a psychological dependency on the regular use of metamphetamine.


chorea, benign familial

Benign hereditary chorea (BHC) is a rare movement disorder that beginsin infancy or childhood. Signs and symptoms in infants may include low muscle tone, involuntary movements (chorea), lung infections, and respiratory distress. Signs and symptoms in children may include delayed motor and walking milestones, jerky muscle movements (myoclonus), upper limb dystonia, motor tics, and vocal tics. The chorea often improves with time. In some cases, myoclonus persists or worsens. Children with BHC can havenormal intellect, but may have learning and behavior problems. Other signs and symptoms include thyroid problems (e.g., hypothyroidism) and lung disease (e.g., recurring infections). Treatment is tailored to each child. Tetrabenazine and levodopa have been tried in individual cases with some success. BHC is caused by mutations in the NKX2-1 gene (also known as the TITF1 gene). It is passed through families in an autosomal dominant fashion.


obesity due to melanocortin 4 receptor deficiency

Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterized by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function.


uncombable hair syndrome 3

Any uncombable hair syndrome in which the cause of the disease is a mutation in the TCHH gene.


inferolateral myocardial infarct

An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the inferolateral wall of the heart.


parasitic eye infection

Mild to severe infections of the eye and its adjacent structures (adnexa) by adult or larval protozoan or metazoan parasites.


autosomal recessive limb-girdle muscular dystrophy type 2A

Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy.


Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type


SATB2 associated disorder

A syndromic intellectual disability disorder that is characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Most distinctive features are neurodevelopmental with invariably severely limited speech, cleft or high arched palate, dental anomalies (crowding, macrodontia, abnormal shape), and behavioral issues with or without bone or brain anomalies.


Ataxia-photosensitivity-short stature syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additonal features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983.


TH-deficient infantile parkinsonism and motor delay

A tyrosine hydroxylase deficiency with onset typically between age three and 12 months. Motor milestones are overtly delayed in this severe form. Affected infants demonstrate truncal hypotonia and parkinsonian symptoms and signs (hypokinesia, rigidity of extremities, and/or tremor).


atrial defect and interatrial communication


neurodevelopmental disorder with poor language and loss of hand skills


glioependymal/ependymal cyst

Glioependymal/ependymal cyst is a rare central nervous system malformation defined as a subarachnoid, supratentorial, interventricular or intraspinal, sometimes intracerebral or intramedullar cyst with an internal ependymal lining, possibly surrounded by glial tissue. It may be an incidental finding or may present at different ages with clinical features depending on its size and location. It may distort adjacent brain structures and cause macrocephaly, ventriculomegaly, hydrocephalus, focal neurological signs and other signs and symptoms. In some cases, it is associated with other cerebral malformations (e.g. corpus callosum agenesis, polymicrogyria, heterotopias).


central nervous system leiomyoma

A benign smooth muscle neoplasm arising from the central nervous system. It is characterized by the presence of intersecting fascicles composed of spindle cells that often lack mitotic activity.


adenosarcoma

A low grade malignant neoplasm characterized by the presence of a benign epithelial component (tubular and cleft-like glands) and a low grade sarcomatous component that contains varying amounts of fibrous and smooth muscle tissues. In a minority of cases, the sarcomatous component contains heterologous elements including striated muscle, cartilage, and fat. It occurs in the uterine corpus, ovary, fallopian tube, cervix, and vagina. It may recur and in a minority of cases may metastasize to distant anatomic sites.


mucopolysaccharidosis

A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies.


dependent personality disorder

A disorder characterized by an enduring pattern of an extreme need to be taken care of together with fear of separation that lead the individual to urgently seek out and submit to another person and allow that person to make decisions that impact all areas of the individual's life.


trichostasis spinulosa

Trichostasis spinulosa (TS) is a condition where instead of one hair protruding from a hair follicle, a bundle or bush of hair come out of a single follicle. This results in elevated, dark spiny papules on the head, face (usually the nose), and trunk. In this condition, there are numerous tiny open pores filled with multiple tiny short hairs, usually only visible with a magnifying glass. TS usually does not cause problems andmay only be noticed as an incidental finding. The exact cause is unknown.


mosaic trisomy 14

Mosaic trisomy 14 is a rare chromosomal disorder in which there are 3 copies (trisomy) of chromosome 14 in some cells of the body, while other cells have the usual two copies. The extent and severity of features in affected individuals can vary. Signs and symptoms that have been most commonly reported include intrauterine growth restriction ; failure to to thrive ; developmental delay; intellectual disability; distinctive facial characteristics; structural malformations of the heart; and other physical abnormalities. This condition is most often caused by an error in cell division in the egg or sperm cell before conception, or in fetal cells after fertilization. Treatment is directed toward the specific signs and symptoms in each individual.


chorea-acanthocytosis

Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances.


neurodevelopmental disorder with or without variable brain abnormalities; NEDBA


mosaic trisomy 20

Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype principally characterized by spinal abnormalities (i.e. stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (i.e. linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (i.e. ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (e.g. horseshoe kidneys), have also been reported.


bladder lymphoma

A lymphoma that involves the urinary bladder.


Wieacker-Wolff syndrome

A severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis) and intellectual disability.


disorder of protein N-glycosylation

A disease that has its basis in the disruption of protein N-linked glycosylation.


glycogen storage disease IXb

Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency.


partial lipodystrophy

Loss and redistribution of subcutaneous and/or visceral adipose tissue from specific regions of the body.


vector-borne disease

An infectious disease where a pathogen is carried and transmitted by another organism that acts as disease vector.


dengue disease

Dengue fever (DF), caused by dengue virus, is an arboviral disease characterized by an initial non-specific febrile illness that can sometimes progress to more severe forms manifesting capillary leakage and hemorrhage (dengue hemorrhagic fever, or DHF) and shock (dengue shock syndrome, or DSS).


glycogen storage disease III

Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.


spondylometaphyseal dysplasia, Golden type

Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base.


avoidant personality disorder

A disorder characterized by an enduring pattern of avoidance of social situations and interpersonal contact due to overwhelming feelings of social inadequacy and a hypersensitivity to negative evaluation or rejection.


agammaglobulinemia, autosomal recessive, due to BOB1 deficiency

Any agammaglobulinemia in which the cause of the disease is autosomal recessive deficiency in the BOB1 gene.


recalcitrant atopic dermatitis

Moderate to severe atopic dermatitis with allergic sensitisation.


epidermolysis bullosa simplex due to plakophilin deficiency

Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized superficial erosions and less commonly blistering.


diffuse cutaneous systemic sclerosis

Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement).


maternal uniparental disomy of chromosome 1

Maternal uniparental disomy of chromosome 1 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.


brittle cornea syndrome 1

Any brittle cornea syndrome in which the cause of the disease is a mutation in the ZNF469 gene.


T-B+ severe combined immunodeficiency due to CD45 deficiency


Dent disease type 1

Dent disease type 1 is a type of Dent disease with predominantly renal manifestations.


Leber congenital amaurosis 11

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


isolated Dandy-Walker malformation with hydrocephalus


posterior corneal dystrophy

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


lissencephaly with cerebellar hypoplasia type A

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


cutaneous leishmaniasis

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


chorea gravidarum

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


short-rib thoracic dysplasia 9 with or without polydactyly

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


central nervous system organ benign neoplasm

A benign neoplasm that involves the central nervous system.


blue diaper syndrome

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


hypomyelinating leukodystrophy 11

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


polycystic kidney disease 5

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


spirillary rat-bite fever

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


mitochondrial complex 4 deficiency, nuclear type 10


neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment


sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis


dentigerous cyst

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


partial bilateral aplasia of the mullerian ducts


dropped head syndrome

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


neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia


idiopathic steroid-sensitive nephrotic syndrome

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


combined immunodeficiency due to OX40 deficiency

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


combined oxidative phosphorylation deficiency 56


Meacham syndrome

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


persistent Mullerian duct syndrome

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


RIDDLE syndrome

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


cholera

Cholera is an infectious disease, caused by intestinal infection with Vibrio cholerae, characterized by massive watery diarrhea and severe dehydration that can lead to shock and death if left untreated.


microphthalmia, isolated, with coloboma

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


pontocerebellar hypoplasia type 10

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


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

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


active tuberculosis

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


limited systemic sclerosis

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


extraskeletal myxoid chondrosarcoma

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


Pontiac fever

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


cervical adenomyoma

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


catecholaminergic polymorphic ventricular tachycardia 3

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


transient arthritis

Arthritis that is not permanent.


hemolytic disease of fetus and newborn, RH-induced


autosomal dominant limb-girdle muscular dystrophy type 1H

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


tricuspid valve disorder

A disease involving the tricuspid valve.


swine disease

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


SRD5A3-congenital disorder of glycosylation

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


retroperitoneal inflammatory myofibroblastic tumor

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


distal trisomy 10q

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


pharyngoconjunctival fever

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


inborn disorder of tryptophan metabolism

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


retinitis pigmentosa 60

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


kwashiorkor

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


congenital ectropion uveae

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


delta-heavy chain disease

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


sporadic idiopathic steroid-resistant nephrotic syndrome

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


intellectual disability, X-linked, with panhypopituitarism


intellectual developmental disorder with dysmorphic facies and ptosis


cardiac tuberculosis

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


neurodevelopmental disorder with speech impairment and dysmorphic facies


bladder sarcoma

A malignant mesenchymal cell neoplasm that affects the urinary bladder.


peritoneal benign neoplasm

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


radiation cystitis

Inflammation of the bladder due to irradiation.


bone leiomyosarcoma

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


malignant childhood germ cell neoplasm

A malignant germ cell tumor that occurs during childhood.


mesomelic dysplasia-digital anomalies-intellectual disability syndrome


dyskeratosis congenita, autosomal recessive 5

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


congenital muscular dystrophy with intellectual disability


X-linked nonsyndromic hearing loss

X-linked form of nonsyndromic deafness.


primordial dwarfism and slender bone disorder

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


benign neoplasm of floor of mouth

A benign neoplasm that involves the mouth floor.


intellectual disability, autosomal dominant 45


autosomal recessive syndromic cerebellar ataxia


chromosome 20 trisomy

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


trichostrongylosis

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


Kashin-Beck disease

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


idiopathic mast cell activation syndrome

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


complete trisomy 18

Trisomy 18 in which the presence of an extra copy of chromosome 18 is present in all the cells of the organism.


fungal infection of eye

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


amelogenesis imperfecta hypomaturation type 2A4

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


inherited ichthyosis

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


Pseudomonas aeruginosa PA14 infection

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


reticulum cell sarcoma

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


auditory neuropathy

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


osteonecrosis of genetic origin

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


nasal glial heterotopia

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


spondyloepiphyseal dysplasia with congenital joint dislocations

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


lipoma of spermatic cord

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


Seckel syndrome 1

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


opsismodysplasia

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


nebulin-related early-onset distal myopathy


multiple synostoses syndrome 2

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


multiple epiphyseal dysplasia type 1

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


parachute tricuspid valve

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


adult-onset Still disease

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


endometrial polyp

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


intellectual disability, autosomal dominant 22

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


acute neonatal citrullinemia type I

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


lipoblastoma

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


scleromyxedema

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


global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome


cardiac ventricle disorder

A disease or disorder that involves the cardiac ventricle.


tetrasomy 18p

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


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


specific learning disability

Diagnosed when there are specific deficits in an individualbs ability to perceive or process information efficiently and accurately. This disorder first manifests during the years of formal schooling and is characterized by persistent and impairing difficulties with learning foundational academic skills in reading, writing, and/or math. The individualbs performance of the affected academic skills is well below average for age, or acceptable performance levels are achieved only with extraordinary effort. Specific learning disorder may occur in individuals identified as intellectually gifted and manifest only when the learning demands or assessment procedures (e.g., timed tests) pose barriers that cannot be overcome by their innate intelligence and compensatory strategies. For all individuals, specific learning disorder can produce lifelong impairments in activities dependent on the skills, including occupational performance. (from dsm-V)


hip dysplasia, Beukes type

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


congenital erosive and vesicular dermatosis


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


ALECT2 amyloidosis

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


primary cutaneous CD30+ T-cell lymphoproliferative disease


lichen planus, familial

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


catecholaminergic polymorphic ventricular tachycardia 5

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


group B streptococcal infection

A disease caused by infection with Group B Streptococcus.


autosomal recessive nonsyndromic hearing loss 76

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


hemochromatosis type 2B

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


Troyer syndrome

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


qualitative or quantitative defects of protein SERCA1


atrichia with papular lesions

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


progressive supranuclear palsy-corticobasal syndrome

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


neonatal hemochromatosis

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


autosomal dominant proximal renal tubular acidosis

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


motor neuron disease with dementia and ophthalmoplegia


congenital primary megaureter, refluxing form


cataract 14 multiple types

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


neuronal ceroid lipofuscinosis 2

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


GNAT2-related retinopathy

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


laryngeal neuroendocrine neoplasm

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


childhood kidney neoplasm

A kidney neoplasm that occurs during childhood.


autoimmune pulmonary disease due to PD-1 deficiency

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


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

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


qualitative or quantitative defects of dysferlin


neoplasm of immature B and T cells

A neoplasm arising from immature B and T cells


miliaria pustulosa

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


grade II lymphomatoid granulomatosis

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


posterior foramen magnum meningioma

A meningioma that affects the posterior foramen magnum.


cerebral hemisphere lipoma

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


dysosteosclerosis

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


vascular disorder of penis

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


amyotrophic lateral sclerosis type 8

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


retinitis pigmentosa 4

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


central areolar choroidal dystrophy

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


schizotypal personality disorder

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


corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

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


brachydactyly-syndactyly syndrome

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


Huntington disease-like 2

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


ectodermal dysplasia 4, hair/nail type

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


hyperparathyroidism 4

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


glossopharyngeal nerve paralysis

Paralysis of the glossopharyngeal nerve.


fetal carbamazepine syndrome

A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to carbamazepine and that is characterized by facial dysmorphism, with some similarities to that seen in fetal valproate syndrome (see this term), such as epicanthal folds, upward slanting palpebral fissures, short nose, micrognathia and malar hypoplasia, as well as nail dysplasia and major anomalies including cleft lip/palate, neural tube defects and cardiac anomalies. In utero exposure to carbamazepine, in combination with valproate, has been associated with significant developmental delay (particularly affecting verbal intelligence) and a high rate of congenital anomalies.


autosomal dominant nonsyndromic hearing loss 3B

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


urinary system neoplasm

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


cono-spondylar dysplasia

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


vesiculitis

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


protothecosis

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


combined oxidative phosphorylation deficiency 39


louse-borne relapsing fever

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


neurodevelopmental disorder with dysmorphic facies and thin corpus callosum


mitochondrial complex 1 deficiency, nuclear type 32


mitochondrial oxidative phosphorylation disorder


oculocutaneous or ocular albinism

Albinism that affects the eyes, including ocular albinism and oculocutaneous albinism.


juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome


acute posterior multifocal placoid pigment epitheliopathy

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


hyperphosphatasia with intellectual disability syndrome 5

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


schizophrenia 2

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


myofibrillar myopathy 6

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


cutaneous larva migrans

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


leukodystrophy, hypomyelinating, 26, with chondrodysplasia


neuronal ceroid lipofuscinosis 5

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


autosomal dominant nonsyndromic hearing loss 15

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


eyelid hypopigmentation

Under-production of pigment in the eyelid.


persistent hyperplastic primary vitreous, autosomal dominant


autosomal recessive titinopathy

Autosomal recessive form of TTN-related myopathy.


juvenile primary lateral sclerosis

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


acheiropody

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


laryngeal cartilage cancer

A malignant neoplasm involving the laryngeal cartilage.


abdominal obesity-metabolic syndrome 3

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


spinocerebellar ataxia type 31

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


pediatric intraocular retinoblastoma

Retinoblastoma during childhood that has not spread beyond the eye.


HHV-7 infectious disease

A disease caused by infection with herpesvirus-7.


craniofrontonasal syndrome

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


hemolytic anemia due to pyrimidine 5' nucleotidase deficiency

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


mixed cell type kidney Wilms' tumor

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


20q13.33 microdeletion syndrome

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


idiopathic disseminated cytomegalovirus infection


atrial fibrillation, familial, 18

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


disorder of glycogen metabolism

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


syndromic X-linked intellectual disability Abidi type

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


Richieri Costa-Pereira syndrome

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


Bartholin gland benign neoplasm

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


ataxia-telangiectasia-like disorder 1

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


granulosa cell tumor

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


isolated plagiocephaly

Isolated synostotic plagiocephaly (SP) is a form of nonsyndromic craniosynostosis characterized by premature fusion of one coronal suture leading to skull deformity and facial asymmetry.


atrophy of thyroid

Tissue degeneration and diminished size of the thyroid gland.


tarsal-carpal coalition syndrome

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


cystic partially differentiated nephroblastoma

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


Pelizaeus-Merzbacher-like disease

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


hereditary angioedema type 1

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


Gerstmann syndrome

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


porencephaly 2

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


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


AIDS related complex

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


familial meningioma

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


phalanx chondroma

A chondroma that involves the phalanx.


Alzheimer disease 6

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


spinocerebellar ataxia type 19/22

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


mucopolysaccharidosis type 2, attenuated form

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


bone benign neoplasm

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


cataract 43

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


ITPKB deficiency

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


blue toe syndrome

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


polycystic kidney disease 3 with or without polycystic liver disease

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


Niemann-Pick disease type C, adult neurologic onset


primary systemic mycosis

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


free sialic acid storage disease, infantile form


gnathomiasis

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


nephronophthisis 11

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


hereditary spastic paraplegia 23

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


polyp of vagina

A polyp that involves the vagina.


atrial septal defect 1

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


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


subacute inflammatory demyelinating polyneuropathy

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


spinal muscular atrophy, type 1

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


Brody myopathy

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


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


dehydration polycythemia

Polycythemia resulting from dehydration.


congenital brain dysgenesis due to glutamine synthetase deficiency


conventional angiosarcoma

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


retrocochlear disease

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


precancerous lesion of palpebral epidermis

A precancerous condition that involves the skin of eyelid.


combined oxidative phosphorylation deficiency 38


cowpox

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


qualitative platelet defect

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


rheumatoid nodulosis

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


pontocerebellar hypoplasia type 2D

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


malignant Sertoli cell tumor

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


X-linked form of epidermodysplasia verruciformis.


helminthiasis

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


autosomal recessive limb-girdle muscular dystrophy type 2X

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


Danon disease

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


local anesthetic poisoning

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


vertebral disorder

A disease or disorder that involves the vertebra.


Thiel-Behnke corneal dystrophy

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


Wolman disease

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


autosomal recessive osteopetrosis 6

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


orofaciodigital syndrome IX

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


nemaline myopathy 2

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


inherited aplastic anemia

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


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


hypogonadotropic hypogonadism-retinitis pigmentosa syndrome

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


growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant


tetragametic chimerism

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


Diamond-Blackfan anemia 15 with mandibulofacial dysostosis

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


factor 5 excess with spontaneous thrombosis


recombinase activating gene 2 deficiency

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


childhood testicular neoplasm

A neoplasm that arises from the testis during childhood.


bone marrow failure syndrome 3

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


isolated microphthalmia 3

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


cloverleaf skull-asphyxiating thoracic dysplasia syndrome


isolated optic neuritis without anti-MOG antibodies


15q overgrowth syndrome

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


A53 diffuse large B-cell lymphoma

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


severe lateral tibial bowing with short stature

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


heart-hand syndrome type 2

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


fusariosis

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


adult xanthogranuloma

A xanthogranuloma that occurs in an adult.


erythrokeratoderma

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


congenital reticular ichthyosiform erythroderma


endometriosis of rectovaginal septum and vagina

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


glossopalatine ankylosis

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


dysostosis with predominant craniofacial involvement


granulomatous amebic encephalitis

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


disorder of glycosylation

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


intellectual disability, X-linked 104

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


spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome


retinitis pigmentosa 58

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


localized lichen myxedematosus with mixed features of different subtypes

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


commissural lip fistula

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


acrofacial dysostosis, Weyers type

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


hereditary spastic paraplegia 63

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


sickle cell disease and related diseases


hereditary night blindness

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


patellar tendinitis

A tendinitis that involves the patella.


autosomal recessive nonsyndromic hearing loss 59

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


combined oxidative phosphorylation deficiency 37


infantile bilateral striatal necrosis

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


childhood epithelioid sarcoma

An epithelioid sarcoma occurring in childhood.


oligoasthenoteratozoospermia

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


Sandhoff disease

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


scapuloperoneal spinal muscular atrophy, autosomal dominant


pelviscapular dysplasia

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


centripetalis recessive dystrophic epidermolysis bullosa

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


skin creases, congenital symmetric circumferential, 2


human herpesvirus 8 infection

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


partial monosomy of the long arm of chromosome 10


epidermolysis bullosa simplex with nail dystrophy


congenital absence of both forearm and hand

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


congenital autosomal recessive small-platelet thrombocytopenia

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


FOXC1-related anterior segment dysgenesis

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


autosomal recessive congenital ichthyosis 9

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


hereditary angioedema with C1Inh deficiency

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


wooly hair nevus

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


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


EDICT syndrome

EDICT (endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning) syndrome is a very rare eye disorder representing a constellation of autosomal dominantly inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia.


Tay-Sachs disease, b variant, infantile form


Charcot-Marie-Tooth disease type 1B

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


intellectual disability, autosomal dominant 54