hemolytic anemia due to adenylate kinase deficiency

Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment.


intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly

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hypogonadotropic hypogonadism 9 with or without anosmia

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


Alexander disease

Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death.


Hb Bart's hydrops fetalis

Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia.


primary ciliary dyskinesia 2

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF3 gene.


hereditary periodic fever syndrome

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


microcephaly 6, primary, autosomal recessive

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


Charcot-Marie-Tooth disease type 2J

Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy.


autosomal recessive nonsyndromic hearing loss 45

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1q43-q44.


amyotrophic lateral sclerosis type 12

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


chromosome 19p13.13 deletion syndrome

19p13.13 microdeletion syndrome is a rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation).


cloverleaf skull-multiple congenital anomalies syndrome

This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies.


osteogenesis imperfecta type 13

Any osteogenesis imperfecta in which the cause of the disease is a mutation in the BMP1 gene.


neuroendocrine disorder

A disease or disorder that affects the neuroendocrine gland, any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli.


C syndrome

C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.


An extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor. This is an n-of-1 use case where only one patient or family has been described with this disorder.


intellectual disability, X-linked, with or without seizures, arx-related


iris cancer

A malignant neoplasm involving the iris.


hereditary hemorrhagic telangiectasia type 4


hyperinsulinemic hypoglycemia, familial, 8


vaginal melanoma

A primary malignant neoplasm of the vagina composed of malignant melanocytes.


hyperphosphatasia with intellectual disability syndrome 6

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


multinodular and vacuolating neuronal tumor

A central nervous system benign neoplasm that is composed of cells with glial and/or neuronal differentiation forming multiple nodules with prominent vacuolation and that affecting the cerebral hemispheres.


hereditary spastic paraplegia 3A

Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATL1 gene.


TSPAN12-related vitreoretinopathy

A vitreoretinopathy caused by variants in the TSPAN12 gene.


parametritis

Inflammation of the parametrium, the connective tissue of the pelvic floor, extending from the subserous coat of the uterus laterally between the layers of the broad ligament.


hypophosphatemic rickets, autosomal recessive, 1

Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the DMP1 gene.


hypogonadotropic hypogonadism 25 with anosmia


cataract 39 multiple types

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


developmental and epileptic encephalopathy, 70


heterophyiasis

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


hereditary spherocytosis type 4

Any hereditary spherocytosis in which the cause of the disease is a mutation in the SLC4A1 gene.


microcephaly 19, primary, autosomal recessive


autosomal recessive ataxia due to ubiquinone deficiency

This syndrome is characterized by childhood-onset progressive ataxia and cerebellar atrophy.


autoimmune disorder of peripheral nervous system

A hypersensitivity reaction type II disease that involves the peripheral nervous system.


Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations.


familial clubfoot due to PITX1 point mutation


von Willebrand disease 3

Type 3 von Willebrand disease (type 3 VWD) is the most severe form of VWD characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (von Willebrand factor; VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII).


chronic neurovisceral acid sphingomyelinase deficiency


retinal drusen

Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium.


20p13 microdeletion syndrome

20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported.


atrial septal defect 6

Any atrial heart septal defect in which the cause of the disease is a mutation in the TLL1 gene.


solitary osseous plasmacytoma

A localized, clonal (malignant) plasma cell infiltrate in the bone, without peripheral blood involvement. The most commonly affected bones are the vertebrae, ribs, skull, pelvis and femur. X-rays examination reveals a solitary lytic lesion.


cone-rod dystrophy 5

Any cone-rod dystrophy in which the cause of the disease is a mutation in the PITPNM3 gene.


TTN-related myopathy

A disorder of the musculoskeletal system caused by pathogenic variants in the TTN gene encoding the titin protein expressed in striated muscle. These variants are associated with a variety of overlapping congenital and adult-onset myopathies characterized by non-progressive or progressive neck, axial, and limb weakness, joint contractures, early-onset respiratory insufficiency, facial weakness, congenital cardiac anomalies and/or early-onset dilated cardiomyopathy. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include increased internalized and central nuclei, minicores, and dystrophic changes.


piedra

Either of two diseases resulting from fungal infection of the hair shafts. Black piedra occurs mainly in and on the hairs of the scalp and is caused by Piedraia hortae; white piedra occurs in and on the hairs of the scalp, beard, mustache and genital areas and is caused by Trichosporon species.


uterine corpus adenocarcinofibroma

A adenocarcinofibroma that involves the body of uterus.


isolated congenital ectropion

A congenital ectropion that is not part of a larger syndrome.


TEK-related primary glaucoma

Any primary hereditary glaucoma in which the cause of the disease is a mutation in the TEK gene.


mesomelic dysplasia, Kantaputra type

Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature.


autoimmune disorder of central nervous system

A hypersensitivity reaction type II disease that involves the central nervous system.


retinitis pigmentosa 17

Any retinitis pigmentosa in which the cause of the disease is a mutation in the CA4 gene.


vitelliform macular dystrophy 2

Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region.


scrotal disorder

A disease or disorder that involves the scrotum.


intellectual disability, autosomal recessive 14

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


mucopolysaccharidosis type 6, slowly progressing


complete trisomy 13

Trisomy 13 in which the presence of an extra copy of chromosome 13 is present in all the cells of the organism.


benign vaginal neoplasm

A non-metastasizing neoplasm that arises from the vagina. Representative examples include squamous papilloma and melanocytic nevus.


neurodevelopmental disorder with motor and speech delay and behavioral abnormalities


partial trisomy of the long arm of chromosome 20


A neurodevelopmental disorder characterized predominantly by intellectual disability, speech delay, motor delay, autism, sleep disturbances, and a high pain threshold. This disorder may be inherited in an autosomal dominant or autosomal recessive manner, likely due to mono-allelic variant resulting in altered function and bi-allelic variants resulting in loss of function, respectively.


Senior-Loken syndrome 8

Any Senior-Loken syndrome in which the cause of the disease is a mutation in the WDR19 gene.


oocyte maturation defect 4

An autosomal recessive phenotypically variable condition caused by mutation(s) in the PATL2 gene, encoding protein PAT1 homolog 2. It is characterized by oocyte maturation defects.


chronic conjunctivitis

Conjunctivitis that is persistent and long-standing.


cerebral palsy, spastic quadriplegic, 2

Any spastic quadriplegia in which the cause of the disease is a mutation in the KANK1 gene.


isolated focal cortical dysplasia

Isolated focal cortical dysplasia is a rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances. Abnormal MRI findings (e.g. abnormal white and/or gray matter signal, blurred gray-white matter junction, localized volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated.


microcytic anemia with liver iron overload

Congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients.


prurigo nodularis

Prurigonodularis (PN) is a skin disease in which hard crusty lumps are formed on the skin that itches intensely. Repetitive rubbing, scratching, and touching results in more lesions in the skin. The itching is so intense that people scratch themselves to the point of bleeding or pain. The lumps formed in the skin are hard, and have about a half inch across, with a dry and rough top that is often scratched open. They tend to be located in the areas most easily reached and are worse on the outer sides: arms, shoulders and legs. The trunk, face and even palms can also be affected. The exact cause is unknown but some factors triggering PN include liver and kidneys problems, nervous and mental conditions and other skin diseases. Prurigo nodulares, in some cases, can be seen in other diseases such as lymphoma, chronic autoimmune cholestatic hepatitis, HIV infection, severe anemia,or a chronic kidney disease-related itching known as uremic pruritus. Treatment is very difficult, and may include corticoids, antihistaminic and other medication such as thalidomide and similar (Lenalidomide). In some cases, cryotherapy, photochemotherapy and habit reversal therapy for the itch-scratch cycle has improved the symptoms. PN can last for many years, and the itching is so intense that may affect all the everyday activities.


isolated microphthalmia 8

Any isolated microphthalmia in which the cause of the disease is a mutation in the ALDH1A3 gene.


acute dacryoadenitis

Acute form of dacryoadenitis.


acquired hyperprolactinemia

An instance of hyperprolactinemia (disease) that is acquired during the lifetime of the individual.


dyskeratosis congenita, autosomal recessive 1

A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA3 on chromosome 15q14.


amelogenesis imperfecta hypomaturation type 2A3

Any amelogenesis imperfecta in which the cause of the disease is a mutation in the WDR72 gene.


brachydactyly type B

A condition characterized by incomplete development (hypoplasia) or absence of the outermost bones of the fingers and toes (distal phalanges) and nails. Additional features may include hypoplasia of the middle phalanges, fusion of the joints (symphalangism), broad thumbs, and webbed fingers (syndactyly). The feet are often less severely affected than the hands. There are 2 types of this condition, designated as type 1 and 2. BDB type 1 is caused by mutations in the ROR2 gene. BDB type 2 is caused by mutations in the NOG gene. Inheritance of both types is autosomal dominant. Treatment may include surgery if the condition affects hand function, or for cosmetic reasons.


primary cutaneous lymphoma

Cutaneous lymphoma is a heterogeneous entity with respect to its clinical and pathological features, evolutive profile, prognosis, molecular etiology and response to therapy. These specifications have been taken into account in recent classifications, which have placed particular importance on the prognostic implications of these different entities.


Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.


epithelioid type angiomyolipoma

An angiomyolipoma composed exclusively or predominantly by polygonal epithelioid cells with eosinophilic cytoplasm, often associated with cytologic atypia.


idiopathic multicentric Castleman disease


femoral-facial syndrome

Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies.


intraocular medulloepithelioma

Intraocular medulloepithelioma is a rare eye tumor characterized by a white, gray or yellow-colored cystic mass that arises from the primitive neuroectodermal, nonpigmented epithelium of the ciliary body, or occasionally from the optic nerve, optic disk, retina or iris. Typically it has a benign clinical course with good prognosis and generally presents with childhood onset of poor vision and pain, glaucoma, and/or cataract. Leukocoria, exotropia, exophthalmos, strabismus, epiphora, change in eye color, hyphema, and raised intraocular pressure are also remarkable manifestations.


glycogen storage disease IXd

A benign form of phosphorylase kinase deficiency caused by variants in PHKA1, characterized by exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness.


amelogenesis imperfecta hypomaturation type 2A2

Any amelogenesis imperfecta in which the cause of the disease is a mutation in the MMP20 gene.


childhood epilepsy with centrotemporal spikes

A childhood-onset epilepsy syndrom that is characterized by onset of seizures between 3 and 14 years (peak 8-9 years) that usually resolve by age 13 years, but can occasionally occur up to age 18 years of age. Both sexes are affected. Antecedent, birth and neonatal history is normal. A history of febrile seizure (in 5-15%) may be seen. A history of Panayiotopoulos syndrome may be present in a very small number of cases. Neurological exam and head size is normal. Development and cognition prior to onset of seizures is normal. During the course of the active epilepsy, behavioral and neuropsychological deficits may be found, particularly in language and executive functioning. These deficits improve when seizures remit.


short-rib thoracic dysplasia 11 with or without polydactyly

An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34.


sterol metabolism disorder

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


nodular lichen myxedematosus

Nodular lichen myxedematosus is a rare form of localized lichen myxedematosus characterized by the development of skin-coloured mucinous nodules on the limbs and trunk, with mild or absent papular eruption.


autosomal recessive nonsyndromic hearing loss 104

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RIPOR2 gene.


developmental and epileptic encephalopathy, 53


corneal dystrophy, Fuchs endothelial, 6

Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the ZEB1 gene.


hereditary spastic paraplegia 29

Autosomal dominant spastic paraplegia type 29 (SPG29) is a complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia.


hereditary palmoplantar keratoderma, Gamborg-Nielsen type

Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterized by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive.


sudden infant death-dysgenesis of the testes syndrome

Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes.


lymphosarcoma

An antiquated term that refers to a non-Hodgkin lymphoma composed of small and medium sized lymphocytes.


double outlet right ventricle with non-committed subpulmonary ventricular septal defect


Johnson neuroectodermal syndrome

Johnson neuroectodermal syndrome is characterized by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism.


chondromalacia patellae

Familial chondromalacia patellae is an inherited bone disorder described in 5 families in 1963 and is characterized by localized patellar pain and male-to-male transmission.


neurodevelopmental disorder with seizures and brain abnormalities


benign soft tissue neoplasm

A non-metastasizing neoplasm that arises from the soft tissue.


mosaic trisomy 15

Mosaic trisomy 15 is a rare chromosomal anomaly syndrome principally characterized by intrauterine growth restriction, congenital cardiac anomalies (incl. ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (incl. hypertelorism, downslanting palpebral fissures, wide nasal bridge). Patients also present brain (e.g. hypoplastic cerebellum, ventricular asymmetry), renal (e.g. small dysplastic kidneys), and/or genital (undescended testis, small penis, hypoplastic labia majora) anomalies. Digital and skin pigmentation abnormalities have also been reported.


neurodevelopmental disorder with language impairment and behavioral abnormalities


glycogen storage disorder due to hepatic glycogen synthase deficiency

Glycogen synthetase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves.


essential hypertension, genetic

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


polymicrogyria with optic nerve hypoplasia

A rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction.


background diabetic retinopathy

An early stage of diabetic retinopathy that is characterized by retinal hemorrhage and exudate, but without proliferation of the blood vessels.


familial hypofibrinogenemia

Familial hypofibrinogenemia is a coagulation disorder characterized by mild bleeding symptoms following trauma or surgery due to a reduced plasma fibrinogen concentration.


childhood brain meningioma

A brain meningioma that occurs during childhood.


epidermolysis bullosa dystrophica with subcorneal cleavage


spinocerebellar ataxia type 1

Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities.


SLC35A1-congenital disorder of glycosylation

SLC35A1-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.


spondyloepimetaphyseal dysplasia with joint laxity, type 3


dyssegmental dysplasia, Rolland-Desbuquois type


Ehlers-Danlos syndrome, vascular-like type

Ehlers-Danlos, vascular-like type is an adult-onset form of Ehlers-Danlos syndrome characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries.


familial thrombocytosis

Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation.


alveolar echinococcosis

Alveolar echinococcosis (AE) is a rare parasitic disorder that occurs after ingestion of eggs of Echinococcus multilocularis. AE is characterized by an initial asymptomatic incubation period of many years followed by a chronic course where the clinical manifestations include epigastric pain and jaundice.


Kallmann syndrome-heart disease syndrome

Kallmann syndrome with cardiopathy is characterized by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome.


basal laminar drusen

A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has material basis in mutations in the CFH gene on chromosome 1q31.3.


melanoma in congenital melanocytic nevus

A melanoma of the skin arising from a congenital melanocytic nevus.


autosomal recessive nonsyndromic hearing loss 85

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 17p12-q11.2.


double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy


phenylketonuria

Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients.


congenital pseudoarthrosis of the fibula


primary ciliary dyskinesia 26

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CFAP298 gene.


distal trisomy 2q

Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed.


Aeromonas hydrophila infectious disease

Aeromonas hydrophila infection is a bacterial disease caused by infection from the Aeromonas hydrophila bacteria.


epidemic pleurodynia

An acute, febrile, infectious disease generally occurring in epidemics. It is usually caused by coxsackieviruses B and sometimes by coxsackieviruses A; echoviruses; or other enteroviruses.


sudden cardiac arrest

The sudden loss of all heart activity due to an irregular heart rhythm.


immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome


linear atrophoderma of Moulin

Linear atrophoderma of Moulin (LAM) is characterized by mildly atrophic and hyperpigmented band-like lesions that follow the lines of Blaschko on the trunk or limbs. Since its initial description in 1992, less than 30 cases have been reported in the literature. Onset occurs during childhood or adolescence and the disease is non-progressive. There is no prior inflammation or subsequent scleroderma. The etiology is unknown but as LAM follows the lines of Blaschko it has been suggested that the disease is caused by mosaicism of a predisposing gene.


trichodysplasia-xeroderma syndrome

Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987.


autosomal dominant nonsyndromic hearing loss 59

An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 11p14.2-q12.3.


combined oxidative phosphorylation defect type 25

Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the MARS2 gene.


atypical lymphoproliferative disorder

A lymphoproliferative disorder characterized by the presence of an atypical lymphocytic infiltrate.


selective pituitary resistance to thyroid hormone

Pituitary resistance to thyroid hormone is a rare, genetic thyroid disease, due to reduced pituitary gland responsiveness to thyroid hormone, characterized by mild to moderate hyperthyroidism in association with elevated circulating thyroid hormone levels, normal or elevated thyroid stimulating hormone, and no abnormalities of the pituitary gland on MRI. Patients present with diffuse large goiter, tachycardia, atrial fibrillation, weight loss and/or heat intolerance/perspiration, but no exophthalmos or anterior tibial mixedema.


estrogen resistance syndrome

Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels. Clinical manifestations include absent breast development and primary amenorrhea in association with multicystic ovaries and/or hypoplastic uterus in female patients, normal or abnormal gonadal development in male patients and markedly delayed bone maturation, persistence of open epiphyses, reduced bone mineral density, and variable tall stature in both sexes. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present.


idiopathic pulmonary arterial hypertension

Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH) characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal and not associated with an underlying condition or family history of PAH.


neoplasm of hypopharynx

A neoplasm (disease) that involves the hypopharynx.


neurodevelopmental disorder with microcephaly, seizures, and brain atrophy


cutaneous mastocytoma

Cutaneous mastocytoma is a form of cutaneous mastocytosis (CM) generally characterized by the presence of a solitary or multiple hyperpigmented macules, plaques or nodules associated with abnormal accumulation of mast cells in the skin.


hereditary spastic paraplegia 18

A rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2.


camptodactyly-tall stature-scoliosis-hearing loss syndrome

Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.


spondyloepimetaphyseal dysplasia, di rocco type


choroideremia-deafness-obesity syndrome

Choroideremia-deafness-obesity syndrome is an X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state.


periodic paralysis with later-onset distal motor neuropathy


combined oxidative phosphorylation defect type 8

Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement.


benign neoplasm of brain

A benign neoplasm that involves the brain.


reproductive system cancer

A malignant neoplasm involving the reproductive organ


dermoid cyst of skin

A benign hamartomatous tumor that possesses various epidermal derivatives and is due to sequestration of skin along the lines of embryonic closure.


non-specific autoimmune cerebellar ataxia without characteristic antibodies


reducing body myopathy

Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibers.


trigeminal nerve disorder

A disease involving the trigeminal nerve.


cervical dermoid cyst

Cervical dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue which usually manifests as a slow-growing, painless mass in the submandibular or sublingual space. Depending on the location, and especially after sudden enlargement, it can cause dyspnea, dysphagia or dysphonia.


vaginal carcinosarcoma

An aggressive mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant epithelial component and a malignant mesenchymal component.


intellectual disability, autosomal recessive 45

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FBXO31 gene.


multiple cutaneous and mucosal venous malformations

Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa.


congenital absence of both lower leg and foot


acute retrobulbar neuritis

Acute form of retrobulbar neuritis.


multiple epiphyseal dysplasia, Beighton type

Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits.


neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures


glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency.


16q24.1 microdeletion syndrome

16q24.1 microdeletion syndrome is a partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects).


spastic paraplegia-precocious puberty syndrome

Spastic paraplegia-precocious puberty syndrome is characterized by precocious puberty (due to Leydig cell hyperplasia), progressive spastic paraplegia and intellectual deficit. It has been described in two brothers. The fact that other family members displayed brisk reflexes and dysarthria suggested autosomal dominant inheritance with variable expression.


lichen nitidus

A chronic inflammatory disease characterized by shiny, flat-topped, usually flesh-colored micropapules no larger than the head of a pin. Lesions are localized in the early stages, found chiefly on the lower abdomen, penis, and inner surface of the thighs. Distribution may become generalized as the disease progresses.


amyotrophic lateral sclerosis type 2, juvenile

Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ALS2 gene.


uterus intravascular leiomyomatosis

A rare benign neoplasm characterized by the presence of smooth muscle cells growing within the veins of the uterine corpus. The intravascular neoplasm growth occurs outside the confines of an adjacent leiomyoma.


neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum


classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form

The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting.


acute anterolateral myocardial infarction

Acute form of anterolateral myocardial infarction.


citrullinemia type II

Citrullinemia type II is a severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma.


benign neoplasm of lower jaw bone

A benign neoplasm that involves the bone of lower jaw.


neurodegeneration with brain iron accumulation 5

Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood.


schizophrenia 3

A schizophrenia that has material basis in an autosomal dominant mutation of SCZD3 on chromosome 6p23.


rhinophyma

Progressive enlargement of the nose due to hypertrophy of the sebaceous glands of the tip of the nose and fibrosis. It usually affects older men and is associated with long-standing acne rosacea. It presents as a pink lobulated mass with dilated vessels in the nose.


cone-rod dystrophy 15

Any cone-rod dystrophy in which the cause of the disease is a mutation in the CDHR1 gene.


isolated microphthalmia 6

Any isolated microphthalmia in which the cause of the disease is a mutation in the PRSS56 gene.


hypomyelinating leukodystrophy 12

Any leukodystrophy in which the cause of the disease is a mutation in the VPS11 gene.


autoimmune thrombocytopenic purpura

An autoimmune disorder in which the number of circulating platelets is reduced due to their antibody-mediated destruction. ITP is a diagnosis of exclusion and is heterogeneous in origin.


hemiparkinsonism-hemiatrophy syndrome

Hemiparkinsonism-hemiatrophy syndrome is a rare parkinsonian disorder characterized by unilateral body atrophy and slowly progressive, ipsilateral hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantars are frequently associated.


hearing loss with skin disease

Nonsyndromic deafness, keratitis-ichthyosis-deafness syndrome, and palmoplantar keratoderma with deafness have all been associated with autosomal dominant variants in GJB2. Reported cases share hearing loss as a feature, therefore it is likely that these phenotypes exist along a spectrum of the same disease, differing in severity of skin phenotypes.


TPM2-related myopathy

A congenital myopathy of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle beta-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, amyotrophy, hypotonia, myopathic facies, scoliosis, and sometimes contractures among other phenotypes. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, core-like lesions, fiber-type disproportion, and dystrophic features all observed to some degree.


mitochondrial complex V (ATP synthase) deficiency nuclear type 3

Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATP5F1E gene.


hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome

Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells.


qualitative or quantitative defects of beta-myosin heavy chain (MYH7)


muscular dystrophy-dystroglycanopathy type B6

A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12.


tibial hemimelia

Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula.


isolated focal non-epidermolytic palmoplantar keratoderma


hypotonia-failure to thrive-microcephaly syndrome

Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.


distal monosomy 7q36

Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (incl. genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported.


Bosch-Boonstra-Schaaf optic atrophy syndrome

Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific.


congenital disorder of glycosylation, type IIz


sensory organ benign neoplasm

A benign neoplasm that involves the sense organ.


POMGNT2-related limb-girdle muscular dystrophy R24


viral laryngitis

Acute inflammation of the larynx caused by viruses, including rhinovirus, influenza virus, parainfluenza virus, and adenovirus.


Osebold-Remondini syndrome

A brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant.


spitzoid melanoma

A junctional or compound melanocytic neoplasm not fulfilling the histopathologic criteria of melanoma but with one of the following features: asymmetry, predominance of single melanocytes over nests in lesions 4 mm or larger, ulceration, large dermal sheets of melanocytes, lack of maturation in dermis, deep dermal mitotic figures, extensive involvement of subcutis, and nuclear pleomorphism. (Mod Pathol 2006;19: S21)


alpha-N-acetylgalactosaminidase deficiency type 2

Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy.


baroreflex failure

Baroreflex failure is a rare disorder that causes fluctuations in blood pressure with episodes of severe hypertension (high blood pressure) and elevated heart rate in response to stress, exercise, and pain. Individuals may also have hypotension (low blood pressure) with normal or reduced heart rate during periods of rest. Symptoms of baroreflex failure may include headache, sweating, and a heart rate that does not respond to medications. The onset of baroreflex failure may be very abrupt or more gradual. In many cases, the cause of baroreflex failure is not known. However, baroreflex failure can result from surgery or radiation treatment for cancers of the neck, injury to the nerves involved in sensing blood pressure, or a degenerative neurologic disease. Treatment usually involves medications to control blood pressure and heart rate along with stress reduction techniques.


diabetic autonomic neuropathy

Autonomic neuropathy that is caused by diabetes mellitus.


polyp of vulva

A polyp that involves the mammalian vulva.


chordoid meningioma

A WHO grade II, usually recurring meningioma characterized by the predominance of tissues that are histologically similar to chordoma.


hyperprolinemia type 1

Hyperprolinaemia type I is an inborn error of proline metabolism characterized by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2).


frontotemporal dementia with motor neuron disease

Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis). The disease is progressive, with death occurring 2-5 years after onset.


synovium neoplasm

A benign or malignant soft tissue neoplasm arising exclusively from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath, localized giant cell tumor of tendon sheath, and malignant giant cell tumor of tendon sheath.


auditory system cancer

A malignant neoplasm involving the auditory system


congenital myopathy with myasthenic-like onset

Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features.


Prader-Willi syndrome due to paternal 15q11q13 deletion


congenital systemic arteriovenous fistula


retinitis pigmentosa 28

Any retinitis pigmentosa in which the cause of the disease is a mutation in the FAM161A gene.


orofacial cleft 5

Any orofacial cleft in which the cause of the disease is a mutation in the MSX1 gene.


autosomal recessive congenital ichthyosis 11


mitochondrial DNA depletion syndrome 13

Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the FBXL4 gene.


muscular channelopathy

A channelopathy that involves the muscle tissue.


aniseikonia

A condition in which the ocular image of an object as seen by one eye differs in size and shape from that seen by the other.


spondyloepimetaphyseal dysplasia, Missouri type

A spondyloepimetaphyseal dysplasia characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.


myopathy, centronuclear, 2

Any centronuclear myopathy in which the cause of the disease is a mutation in the BIN1 gene.


Nijmegen breakage syndrome

Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.


diffuse cutaneous mastocytosis

Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM) characterized by generalized erythroderma, various degrees of blistering, skin with a ''peau d'orange'' appearance and the accumulation of mast cells in the skin. At least two DCM variants are recognized, one with extreme blistering (Bullous DCM) and one with infiltrations (Pseudoxanthomatous DCM).


B-cell childhood acute lymphoblastic leukemia

An acute B-lymphoblastic leukemia occurring in children.


lymphoplasmacyte-rich meningioma

A WHO grade I meningioma characterized by the presence of prominent chronic inflammatory infiltrates that predominate over the meningioma cells.


adiposis dolorosa

Adiposis dolorosa or Dercum's disease is characterized by the development of multiple, painful, subcutaneous lipomas in association with obesity, asthenia and fatigue, and range of mental disturbances including instability, depression, confusion, dementia and epilepsy.


sexually transmitted disease

A Disease due to or propagated by sexual contact.


early-onset posterior subcapsular cataract


autosomal recessive cerebellar ataxia with late-onset spasticity

Autosomal recessive cerebellar ataxia with late-onset spasticity is a rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliolis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated.


parastremmatic dwarfism

Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.


microcephaly 29, primary, autosomal recessive


recessive dystrophic epidermolysis bullosa inversa

Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area.


nephrosis

Pathological processes of the KIDNEY without inflammatory or neoplastic components. Nephrosis may be a primary disorder or secondary complication of other diseases. It is characterized by the NEPHROTIC SYNDROME indicating the presence of PROTEINURIA and HYPOALBUMINEMIA with accompanying EDEMA.


epileptic encephalopathy, infantile or early childhood, 1


TUBB2A-related tubulinopathy

A tubulinopathy syndrome often associated with microtubule dysfunction, malformations of the corpus callosum, enlarged ventricles, dysgyria, abnormal basal ganglia, cerebellar vermis hypoplasia/dysplasia, and decreased white matter, due to heterozygous variants in TUBB2A. Individuals may present with variable combinations of malformations of the corpus callosum, enlarged ventricles, dysgyria, abnormal basal ganglia, cerebellar vermis hypoplasia/dysplasia, and decreased white matter. Epilepsy, speech impairment, and motor impairment are also frequent features.


childhood malignant mesenchymoma

A malignant mesenchymoma occurring in children.


adult type testicular granulosa cell tumor

A rare sex cord-stromal tumor that arises from the testis in adults. Gynecomastia is present in approximately a quarter of the patients. Several morphologic patterns have been identified and include insular, gyriform, trabecular, pseudosarcomatous, and solid. Metastases occur in approximately twenty percent of the cases.


ABeta amyloidosis, Arctic type

Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages.


non-Zellweger spectrum disorder

A peroxisome biogenesis disorder which is due to defect in PEX7 or PEX5. This includes rhizomelic chondrodysplasia punctata due to defect in PEX7 or PEX5, and adult Refsum Disease due to defects in PEX7.


GRN-related frontotemporal lobar degeneration with Tdp43 inclusions

A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has material basis in mutation in the GRN gene on chromosome 17q21.31.


combined oxidative phosphorylation deficiency 46


food protein-induced enterocolitis syndrome

An eosinophilic gastrointestinal disorder triggered by food that is non-IgE-mediated.


autosomal recessive intermediate Charcot-Marie-Tooth disease

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


petrous apex meningioma

A meningioma that affects the petrous apex.


hereditary hyperferritinemia with congenital cataracts

Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.


May-Thurner syndrome

A compression of ILIAC VEIN that results in a decreased flow in the vein and in the left LOWER EXTREMITY due to a vascular malformation. It may result in left leg EDEMA, pain, iliofemoral DEEP VENOUS THROMBOSIS and POSTTHROMBOTIC SYNDROME. Compression of the left common ILIAC VEIN by the right common ILIAC ARTERY against the underlying fifth LUMBAR VERTEBRA is the typical underlying malformation.


brachydactyly type B2

Brachydactyly type B2 is a rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness.


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

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


autoinflammatory syndrome due to TBK1 deficiency

Any autoinflammatory syndrome in which the cause of the disease is an autosomal recessive variation in the TBK1 gene.


acquired schizencephaly

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


benign neoplasm of adrenal gland

A benign neoplasm that involves the adrenal gland.


hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation

Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation is a mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure.


myiasis

The infection of a fly larva (maggot) in human tissue, which most commonly occurs in tropical climates. Affected tissues most commonly include skin, especially if open wounds are present, nasal passages, ears, and eyes.


developmental and epileptic encephalopathy, 81


Ullrich congenital muscular dystrophy

Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence.


radial hemimelia

Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius.


fasciolopsiasis

A small bowel infection that is caused by Fasciolopsis buski, which is endemic in the Far East and Southeast Asia, and which is transmitted via the consumption of raw or undercooked aquatic plants. The spectrum of manifestations range from asymptomatic to intestinal symptoms from local invasion or allergic response.


muscular dystrophy, limb-girdle, autosomal recessive 26


infantile-onset ascending hereditary spastic paralysis

Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria.


hypothyroidism due to iodide transport defect

A condition associated with reduced active import of iodide across the basolateral membrane of the follicular cells of the thyroid gland. Inactivating mutations in the SLC5A5 gene encoding the sodium-iodide symporter are responsible for the condition.


thrombophilia due to protein S deficiency, autosomal dominant

Autosomal dominant form of hereditary thrombophilia due to congenital protein S deficiency.


nanophthalmos 4

Any nanophthalmia in which the cause of the disease is a mutation in the TMEM98 gene.


coccidiosis

A parasitic infection caused by Coccidia. It affects livestock, birds and humans. In humans the parasite infests the intestinal tract and may cause watery diarrhea, abdominal pain, fever, nausea and vomiting.


autosomal dominant nonsyndromic hearing loss 28

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GRHL2 gene.


Far-East scarlet-like fever

A severe inflammatory disease that occurs sporadically and in outbreaks in Russia and Japan, caused by Yersinia pseudotubuclosis infection, an organism that typically causes self-limiting gastroenteritis in Europe.


exudative vitreoretinopathy 5

Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the TSPAN12 gene.


tick-borne relapsing fever

An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected ticks; 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.


akinetopsia

An agnosia that is a loss of motion perception.


mullerian aplasia and hyperandrogenism

Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence of underdevelopment of the uterus, and sometimes absence of underdevelopment of the vagina.


neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities

An autosomal recessive disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. More variable features include hypotonia, early-onset seizures, and a peripheral demyelinating or axonal peripheral sensorimotor neuropathy. The disease follows a neurodegenerative course in many patients; clinical features suggest involvement of both the central and peripheral nervous systems.


HSD10 mitochondrial disease

A rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.


chronic endophthalmitis

Chronic form of endophthalmitis.


muscular dystrophy, Hemizygous lethal type


Kienbock disease

Kienbock disease is a rare bone disorder of unknown etiology characterized clinically by osteonecrosis of the carpal lunate, eventually leading to collapse of the lunate bone impacting wrist function.


chronic relapsing inflammatory optic neuropathy

A rare inflammatory optic neuropathy characterized by severe and persistent pain followed by subacute visual loss, a relapsing-remitting course, and steroid-dependence. Involvement of both optic nerves is common and is usually sequential. Serum antibodies against aquaporin 4 are absent in most cases. Magnetic resonance imaging shows contrast enhancement of the acutely inflamed optic nerves.


acquired testicular failure

Testicular failure, the cause of which is not present at birth.


gangliosidosis

A group of autosomal recessive lysosomal storage disorders marked by the accumulation of gangliosides. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the lysosomes. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway.


neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities


conjunctival disorder

Any disorder of the conjunctiva.


congenital anomalies of kidney and urinary tract 1

Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the DSTYK gene.


traumatic myositis ossificans

Myositis Ossificans resulting from trauma.


retinitis pigmentosa 75

Any retinitis pigmentosa in which the cause of the disease is a mutation in the AGBL5 gene.


Preaxial polydactyly of toes, unilateral


combined immunodeficiency due to STK4 deficiency

A rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency).


acute lichenoid pityriasis

A rare skin disorder of unknown etiology that is considered to be a more severe form of pityriasis lichenoides. It is characterized by itchy, burning papular lesions which form open sores with red-brown crusts. Low grade fever, headache, malaise, and arthralgias may occasionally precede or accompany the skin findings.


X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported.


pidermolysis bullosa simplex 5A, Ogna type

A basal subtype of epidermolysis bullosa simplex (EBS) characterized by sometimes widespread, primarily acral blistering.


infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life.


distal spinal muscular atrophy type 3

Distal spinal muscular atrophy type 3 is a rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction.


mixed phenotype acute leukemia

An acute leukemia of ambiguous lineage. It is characterized by the presence of either separate populations of blasts of more than one lineage, or one population of blasts co-expressing markers of more than one lineage.


NEK9-related lethal skeletal dysplasia

NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.


Brugada syndrome 4

Any Brugada syndrome in which the cause of the disease is a mutation in the CACNB2 gene.


polycystic kidney disease 6 with or without polycystic liver disease

Any polycystic kidney disease in which the cause of the disease is a mutation in the DNAJB11 gene.


neuronopathy, distal hereditary motor, type 7A

Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the SLC5A7 gene.


preaxial digit brachydactyly-webbed fingers


combined oxidative phosphorylation deficiency 51


factor V and factor VIII, combined deficiency of, type 1

Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the LMAN1 gene.


acute undifferentiated leukemia

A rare acute leukemia of ambiguous lineage in which the blasts do not express markers specific to myeloid or lymphoid lineage.


progressive familial heart block type IB

Any progressive familial heart block in which the cause of the disease is a mutation in the TRPM4 gene.


congenital vascular malformation

A congenital abnormality of the arteries and veins, lymph vessels or veins and lymph vessels.


neonatal Marfan syndrome

Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.


ringed hair disease

Pili annulati is an isolated, benign hair shaft abnormality, usually presenting after the age of 2 and affecting the hair of the scalp or very rarely beard, axillary, or pubic hair, that is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases.


inborn aminoacylase deficiency

An inherited metabolic disease that is has its basis in the disruption of aminoacylase activity.


paratesticular lipoma

A rare benign adipose tissue neoplasm of the paratesticular tissues. It is incidentally discovered and presents as a non-tender scrotal mass. It affects patients over a wide age range.


Weill-Marchesani syndrome 3

Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the LTBP2 gene.


loricrin keratoderma

A diffuse palmoplantar keratoderma, characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission.


nephronophthisis 4

Any nephronophthisis in which the cause of the disease is a mutation in the NPHP4 gene.


neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities


primary ciliary dyskinesia 32

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH3 gene.


Olmsted syndrome

A hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.


46,XX ovarian dysgenesis-short stature syndrome


prekallikrein deficiency

A condition characterized by the congenital or acquired deficiency of prekallikrein. This deficiency is usually not associated with bleeding. The congenital deficiency is very rare. Acquired deficiency may occur in diffuse intravascular coagulation, infections, and sickle cell disease.


Toriello-Lacassie-Droste syndrome

Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital.


acquired primary ovarian failure

An instance of primary ovarian failure that is acquired during the lifetime of the individual.


Thiemann disease, familial form

Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course.


generalized epilepsy with febrile seizures plus, type 9

Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the STX1B gene.


acute myeloid leukemia, t(6;11)(q27;q23)

Any acute myeloid leukemia that has the chromosomal anomaly t(6;11)(q27;q23). (A cytogenetic abnormality that refers to the translocation of the long arm (q27) of chromosome 6 and the long arm (q23) of chromosome 11. It is associated with the development of de novo acute myeloid leukemia.)


chronic asthma

An asthma that is characterized by the development of persistent airway inflammation and recurrent attacks of breathlessness and wheezing, which vary in severity and frequency.


autosomal dominant primary microcephaly

Autosomal dominant form of microcephaly (disease).


brachial plexus neoplasm

A neoplasm (disease) that involves the brachial nerve plexus.


neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures


aortic aneurysm, familial thoracic 10

Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the LOX gene.


nephrotic syndrome, type 3

Any nephrotic syndrome in which the cause of the disease is a mutation in the PLCE1 gene.


combined oxidative phosphorylation defect type 26

Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT5 gene.


ring chromosome 9

Ring chromosome 9 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies.


neurodevelopmental disorder with severe motor impairment and absent language


primary adult heart tumor

Adult heart tumor refers to neoplasms of the heart that manifest in adults and generally present with a variety of non-specific manifestations (depending on tumor site and infiltration) such as weight loss, exhaustion, hemorrhagic pericardial effusion, heart failure, arrhythmias, and embolisms, or that can also be asymptomatic. In adults 75% of heart tumors are benign, with myxoma being the most common benign tumor (accounting for 50-70% of all primary heart tumors) and rhabdomyosarcoma comprising 75% of malignant heart tumors. Other malignant tumors of the heart include fibrosarcoma and leiomyosarcoma (see these terms).


spongiotic dermatitis

A chronic inflammatory skin condition characterized by itchiness and a rash in the chest and abdominal areas. It affects males more than females and is usually contracted at a relatively young age. It is thought to be caused by an allergic reaction to food, insect bites, or medication.


intellectual developmental disorder, autosomal dominant 69


microphthalmia, isolated, with coloboma 3

Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the VSX2 gene.


Pelger-Huet-like anomaly and episodic fever with abdominal pain

An autoinflammatory disease with defective neutrophil function caused by a homozygous Arg219His mutation in the transcription factor C/EBPε.


myoclonic dystonia 11

Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the SGCE gene.


renal tubulopathy-encephalopathy-liver failure syndrome

Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in Gracile syndrome and that can be associated with encephalopathy and psychiatric disorders.


benign eccrine neoplasm

A non-metastasizing eccrine appendage sweat gland neoplasm. Representative examples include hidrocystoma, syringoma, and syringofibroadenoma.


narcolepsy-cataplexy syndrome

Narcolepsy with cataplexy is a sleep disorder characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions).


sensory ganglionopathy

A disease or disorder that involves the sensory ganglion.


disorder of optic chiasm

A disease that involves the optic chiasma.


congenital dyserythropoietic anemia type type 1B


amyotrophic lateral sclerosis with polyglucosan bodies


Charcot-Marie-Tooth disease, axonal, IIa 2II


medulloblastoma with extensive nodularity

Medulloblastoma with extensive nodularity (MBEN) is a histological variant of medulloblastoma, an embryonic malignancy, most often located in the inferior medullary velum and then growing into the fourth ventricle, and presenting in infants and young children with symptoms of increased intracranial pressure such as headache, listlessness, vomiting, diplopia and papilledema. It is often associated with Gorlin syndrome and has a relatively good prognosis.


Bruck syndrome 1

Any Bruck syndrome in which the cause of the disease is a mutation in the FKBP10 gene.


combined immunodeficiency due to RELA haploinsufficiency


glucocorticoid deficiency 1

Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MC2R gene.


retinitis pigmentosa 41

Any retinitis pigmentosa in which the cause of the disease is a mutation in the PROM1 gene.


developmental and epileptic encephalopathy, 13

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN8A gene.


hot water reflex epilepsy

Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases.


oesophagostomiasis

Infection of the intestinal tract with worms of the genus oesophagostomum. This condition occurs mainly in animals other than humans.


pemphigus erythematosus

Pemphigus erythematosus is a rare superficial pemphigus disease characterized clinically by well-demarcated, localized, erythematous, scaly, hyperkeratotic, crusted plaques, with frequent butterfly distribution over the malar area of the face (but also commonly involving trunk and scalp, and less frequently the extremities, with a photoexposed distribution). Histologically, granular deposits along the dermal-epidermal junction, in addition to intercellular deposition in the upper epidermis, are observed.


autosomal dominant optic atrophy plus syndrome

Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a variant of autosomal dominant optic atrophy (ADOA) associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness.


agenesis of the corpus callosum with peripheral neuropathy

Corpus callosum agenesis-neuropathy is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and "autistic-like" features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait.


retinohepatoendocrinologic syndrome

Retinohepatoendocrinologic syndrome is characterized by total colorblindness caused by progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction (hypothyroidism, diabetes, repeated abortions or infertility). It has been described in six females from two sibships with a high degree of consanguinity, and in a male from another family.


X-linked intellectual disability with marfanoid habitus

The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.


congenital disorder of deglycosylation 2


proximal-type epithelioid sarcoma

An epithelioid sarcoma predominantly involving the pelvis, perineum, and genital organs. It tends to have a more aggressive clinical course as compared to the more frequently seen distal-type epithelioid sarcoma.


myeloid/lymphoid neoplasm associated with JAK2 rearrangement

Rare myeloid neoplasms characterized by eosinophilia, bone marrow findings of left-shifted erythroid predominance, lymphoid aggregates, and often myelofibrosis, and the detection of t(8;9)(p22;p24.1) and PCM1-JAK2 fusion gene. Rare cases present as T- or B-acute lymphoblastic leukemia.


acute closed-angle glaucoma

Acute form of angle-closure glaucoma.


hereditary spastic paraplegia 51

Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4E1 gene.


cataract 22 multiple types

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB3 gene.


bipartite talus

Bipartite talus is a rare, genetic bone disorder characterized by the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling.


frontal lobe epilepsy

A localization-related (focal) form of epilepsy characterized by seizures which arise in the frontal lobe. A variety of clinical syndromes exist depending on the exact location of the seizure focus. Frontal lobe seizures may be idiopathic (cryptogenic) or caused by an identifiable disease process such as traumatic injuries, neoplasms, or other macroscopic or microscopic lesions of the frontal lobes (symptomatic frontal lobe seizures). (From Adams et al., Principles of Neurology, 6th ed, pp318-9)


developmental and epileptic encephalopathy, 4

Early infantile epileptic encephalopathy 4 (EIEE4) is a form of early infantile epileptic encephalopathy, which refers to a group of neurological conditions characterized by severe seizures beginning in infancy. EIEE4, specifically, is often associated with partial complex or tonic-clonic seizures, although other seizure types have been reported. Other signs and symptoms mayinclude intellectual disability, reduced muscle tone (hypotonia), hypsarrhythmia (an irregular pattern seen on EEG), dyskinesia (involuntary movement of the body), and spastic di- or quadriplegia. EIEE4 is caused by changes (mutations) in the STXBP1 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. For example, certain medications are often prescribed to help control seizures, although they are not always effective in all people with the condition.


neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies


potassium deficiency

A condition due to decreased dietary intake of potassium, as in starvation or failure to administer in intravenous solutions, or to gastrointestinal loss in diarrhea, chronic laxative abuse, vomiting, gastric suction, or bowel diversion. Severe potassium deficiency may produce muscular weakness and lead to paralysis and respiratory failure. Muscular malfunction may result in hypoventilation, paralytic ileus, hypotension, muscle twitches, tetany, and rhabomyolysis. Nephropathy from potassium deficit impairs the concentrating mechanism, producing polyuria and decreased maximal urinary concentrating ability with secondary polydipsia. (Merck Manual, 16th ed)


benign chondrogenic neoplasm

A non-metastasizing cartilaginous matrix-producing neoplasm characterized by the presence of neoplastic chondrocytes. Representative examples include osteochondroma and chondroma.


limbic encephalitis with LGI1 antibodies

Limbic encephalitis with LGI1 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive decline, psychiatric disturbances and seizures (distinctively faciobrachial dystonic seizures) in association with detection of LGI1 antibodies in serum or cerebrospinal fluid. Patients may present with confusion, hallucinations, vocalization, paranoia, tangentiality, aggressive outbursts and/or spatial disorientation, as well as obstinate hyponatremia. It is most often non-paraneoplastic, however comorbid tumors, such as small cell lung cancer and thymoma, have been reported.


bowenoid papulosis

Dysplastic papular lesions presenting on the genitalia of either sex. The lesions are associated with human papillomavirus infection. The majority of cases have a benign clinical course, although, a small number of cases with malignant transformation have been reported.


autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation


epidermolysis bullosa simplex 5B, with muscular dystrophy

A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy.


Ritscher-Schinzel syndrome 2

Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the CCDC22 gene.


encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1


diffuse scleroderma

A variant of systemic scleroderma characterized by sclerosis of the skin, Raynaud phenomenon, and organ involvement, including pulmonary fibrosis, renal disease, and gastrointestinal tract involvement.


sialidosis type 2

A rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations.


choroid neoplasm

A neoplasm (disease) that involves the optic choroid.


benign neoplasm of brain stem

A benign neoplasm that involves the brainstem.


mesomelic dwarfism, Reinhardt-Pfeiffer type

Mesomelic dwarfism, Reinhardt-Pfeiffer type is characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula.


transient arthropathy

Arthropathy that is not permanent.


Arterial dissection-lentiginosis is a rare association syndrome, reported in several members of two families to date, and characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (ex. headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities).


Kimura disease

Kimura disease is a benign and chronic inflammatory disorder of unknown etiology, occurring mainly in Asian countries (very rarely in Western countries) and predominantly affecting young men, that usually presents with a solitary or multiple non-tender subcutaneous masses in the head and neck region (in particular the preauricular and submandibular area) and/or generalized painless lymphadenopathy, often with salivary gland involvement. Characteristic laboratory findings include blood eosinophilia and markedly elevated serum immunoglobulin E (IgE) levels. It is often associated with autoinflammatory disorders (i.e. ulcerative colitis, bronchial asthma) and a co-existing renal disease.


peroxisome biogenesis disorder, complementation group 3


spondyloepiphyseal dysplasia tarda, X-linked

X-linked spondyloepiphyseal dysplasia tarda is an inherited skeletal disorder that affects males only. Physical characteristics include moderate short-stature (dwarfism); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck;disproportionatelylong arms,and premature osteoarthritis, especially in the hip joints. Final male adult height ranges from 4 feet 10 inches to 5 feet 6 inches. Other skeletal features of this condition include decreased mobility of the elbow and hip joints, arthritis, and abnormalities of the hip joint which causes the upper leg bones to turn inward. This condition is caused by mutations in the TRAPPC2 gene and is inherited in an X-linked recessive pattern.


Charcot-Marie-Tooth disease type 4B1

Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus).


A perceptual disorder caused by intoxication with hallucinogen drugs, especially LSD. It is characterized by the recurrence of perceptive disturbances that first develop during intoxication. The contents of the perception and visual imagery range extensively and symptoms may include visual disturbances, hallucinations, and psychoses.


combined deficiency of factor VII and factor X


platelet-type bleeding disorder 17

An autosomal dominant condition caused by mutation(s) in the GFI1B gene, encoding zinc finger protein Gfi-1b. It is characterized by a tendency for increased bleeding due to abnormal platelet function.


mitochondrial complex 1 deficiency, nuclear type 7


benign metanephric tumor

A benign neoplasm that involves the metanephros.


testis refractory cancer

Malignant testicular germ cell tumor that is resistant to treatment.


Miyoshi myopathy

A distal myopathy, characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes.


retinal dystrophy in systemic or cerebroretinal lipidoses


inherited Creutzfeldt-Jakob disease

Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia.


infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination.


chronic cervicitis

Chronic inflammation of the cervix.


mesomelic dysplasia

A form of skeletal dysplasia characterized by shortening of the bones of the middle segments of the limbs (i.e., the radii, ulnae, tibiae and fibulae).


limbic encephalitis

A group of autoimmune conditions characterized by inflammation of the limbic system and other parts of the brain.The cardinal sign of limbic encephalitis is a severe impairment of short-term memory; however,symptoms may also include confusion, psychiatric symptoms, and seizures.The symptomstypically develop over a few weeks or months, but they may evolve over a few days. Limbic encephalitis is often associated with an underlying neoplasm (paraneoplastic limbic encephalitis); however some cases never have a neoplasm identified (non-paraneoplastic limbic encephalitis). Delayed diagnosis is common, but improvements are being made to assist in early detection. Various tests including imaging studies (MRI, PET) laboratory tests (CSF analysis), and tests that measure the electrical activity of the brain (EEG) may be utilized to confirm a diagnosis. Treatment includes removal of the neoplasm (if identified) and immunotherapy.


juvenile temporal arteritis

Juvenile temporal arteritis is a rare form of vasculitis, a group of conditions that cause inflammation of the blood vessels. Unlike the classic form of temporal arteritis, this condition is generally diagnosed in late childhood or early adulthood and only affects the temporal arteries (located at the lower sides of the skull, directly underneath the temple). Affected people often have no signs or symptoms aside from a painless nodule or lump in the temporal region. The exact underlying cause of the condition is unknown. It generally occurs sporadically in people with no family history of the condition. Juvenile temporal arteritis is often treated with surgical excision and rarely recurs.


mitochondrial myopathy-lactic acidosis-deafness syndrome

Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.


cataract 24

A cataract that has material basis in variation in the region 17p13.


pediatric osteosarcoma

An osteosarcoma occurring in childhood.


cataract 17 multiple types

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB1 gene.


cancer affecting bone of limb skeleton

A cancer that involves the limb bone.


ciliary body neoplasm

A neoplasm (disease) that involves the ciliary body.


chromosome 5p13 duplication syndrome

5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).


partial deletion of the short arm of chromosome 10


Leri pleonosteosis

Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner.


dyskeratosis congenita, autosomal dominant 6

A dyskeratosis congenita that has material basis in an autosomal dominant mutation of ACD on chromosome 16q22.1.


mixed epithelial stromal tumor of the kidney

A rare, usually benign neoplasm that arises from the kidney. It usually affects females. It is characterized by the presence of a biphasic pattern with tubular and cystic structures in a spindle cell stroma. Patients usually present with flank pain and hematuria.


autosomal dominant progressive external ophthalmoplegia

Autosomal dominant form of progressive external ophthalmoplegia.


hair nevus

A usually benign congenital skin growth that is often pigmented and sometimes develop coarse surface hair. There is a lifetime risk of transformation to malignant melanoma which varies depending on the size of the lesion.


autosomal recessive nonsyndromic hearing loss 31

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


Venezuelan equine encephalitis

A condition caused by infection by the Venezuelan equine encephalitis virus, which is characterized by headache, fever, myalgia, nausea, and vomiting.


pontocerebellar hypoplasia type 5

Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5.


benign infantile seizures associated with mild gastroenteritis

Benign infantile seizures associated with mild gastroenteritis is a rare infantile epilepsy syndrome characterized by benign afebrile seizures in previously healthy infants and children (age range 1 month to 6 years) with mild acute gastroenteritis without any central nervous system infection, severe dehydration, or electrolyte imbalances. In most cases the seizures are tonic-clonic with focal origin on EEG, occur between day 1 and 6 following onset of acute gastroenteritis, cease within 24 hours and do not persist after the illness.


progressive myoclonic epilepsy type 8

Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the CERS1 gene.


spinocerebellar ataxia type 15/16

Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia, tremor and cognitive impairment.


immunodeficiency due to a late component of complement deficiency

A genetic deficiency of any membrane attack complex (MAC, also known as terminal component complex (TCC)) component of the complement system (C5, C6, C7, C8, C9). Deficiencies of the terminal complement pathway results in a predisposition to infections, such as invasive meningococcal disease or disseminated gonococcal infection.


spondylometaphyseal dysplasia, East African type


autosomal dominant congenital benign spinal muscular atrophy

Autosomal dominant congenital benign spinal muscular atrophy is a rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfuntion are usually also associated.


optic atrophy 13 with retinal and foveal abnormalities


diffuse idiopathic skeletal hyperostosis

This syndrome is characterized by the association of ankylosing vertebral hyperostosis with hyperkeratosis of the soles and palms.


congenital pulmonary airway malformation type 2


autoimmune encephalitis

Inflammation of the brain secondary to an immune response triggered by the body itself.


optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy