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

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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.


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.


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.


inborn disorder of gamma-aminobutyric acid metabolism

An inherited metabolic disease that is has its basis in the disruption of gamma-aminobutyric acid metabolic process.


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


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.


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.


fetal cytomegalovirus syndrome

An infection with the Cytomegalovirus that is present from birth.


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)


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.


autosomal dominant popliteal pterygium syndrome

Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.


Ritscher-Schinzel syndrome 2

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


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.


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.


microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome


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.


tumor of hematopoietic and lymphoid tissues


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


inborn disorder of glycerol metabolism

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


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.


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


syndromic keratoconus

A keratoconus (disease) that is part of a larger syndrome.


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


acromesomelic dysplasia 1, Maroteaux type

A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type.


vulvar dystrophy

A non-neoplastic lesion that affects the vulva and is characterized by thinning or thickening of the skin and dryness.


atypical hemolytic-uremic syndrome with DGKE deficiency


intellectual disability, autosomal dominant 4

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the KIRREL3 gene.


X-linked parkinsonism-spasticity syndrome is a rare genetic neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign.


intellectual disability, autosomal recessive 7

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TUSC3 gene.


Charcot-Marie-Tooth disease type 4A

Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe, rapidly progressing demyelinating, axonal, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities.


viral sexually transmitted disease

Viral diseases which are potentially transmitted or propagated by sexual conduct.


distal myopathy with anterior tibial onset


erythema palmare hereditarium

A rare, benign, congenital genetic skin disorder characterized by permanent and asymptomatic erythema of the palmar and, less frequently, the solar surfaces. In most cases, it presents with sharply demarcated redness of the thenar and hypothenar eminences, as well as the palmar aspect of the phalanges, with scattered telangiectasia spots that do not cause any discomfort (pain, itching or burning) to the patient.


MMEP syndrome

A congenital syndromic form of split-hand/foot malformation (SHFM). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies.


autosomal dominant myoglobinuria

Autosomal dominant myoglobinuria is a rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997.


chromosome 16p12.2-p11.2 deletion syndrome

16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.


mesenchymal hamartoma

A hamartoma characterized by the presence of mesenchymal elements.


autosomal recessive spinocerebellar ataxia 20

Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the SNX14 gene.


atrial fibrillation, familial, 10

Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN5A gene.


Acropectorovertebral dysplasia

A skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones).


Pectobacterium carotovorum infection

A bacterial infection induced by Pectobacterium carotovorum which is is a bacterium of the family Enterobacteriaceae. This bacterius is a ubiquitous plant pathogen with a wide host range (carrot, potato, tomato, leafy greens, squash and other cucurbits, onion, green peppers, African violets etc.), able to cause disease in almost any plant tissue it invades. It is a very economically important pathogen in terms of postharvest losses, and a common cause of decay in stored fruits and vegetables. Decay caused by E. carotovora is often simply referred to as "bacterial soft rot" (BSR) though this may also be caused by other bacteria. Most plants or plant parts can resist invasion by the bacteria, unless some type of wound is present. High humidity and temperatures around 30°C favor development of decay. Mutants can be produced which are less virulent. Virulence factors include: pectinases, cellulases, (which degrade plant cell walls), and also proteases, lipases, xylanases and nucleases (along with the normal virulence factors for pathogens – Fe acquisition, LPS integrity, multiple global regulatory systems).


short-rib thoracic dysplasia 16 with or without polydactyly


X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2

An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region.


heavy metal poisoning

Heavy metal poisoning refers to when excessive exposure to a heavy metal affects the normal function of the body. Examples of heavy metals that can cause toxicity include lead, mercury, arsenic, cadmium, and chromium. Exposure may occur through the diet, from medications, from the environment, or in the course of work or play. Heavy metals can enter the body through the skin, or by inhalation or ingestion. Toxicity can result from sudden, severe exposure, or from chronic exposure over time. Symptoms can vary depending on the metal involved, the amount absorbed, and the age of the person exposed. For example, young children are more susceptible to the effects of lead exposure because they absorb more compared with adults and their brains are still developing. Nausea, vomiting, diarrhea, and abdominal pain are common symptoms of acute metal ingestion. Chronic exposure may cause various symptoms resulting from damage to body organs, and may increase the risk of cancer. Treatment depends on the circumstances of the exposure.


autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome is characterized by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal hemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures.


autosomal dominant nonsyndromic hearing loss 24

An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q35-qter.


Histoplasma pericarditis

An pericarditis (disease) caused by infection with Histoplasma.


congenital hereditary endothelial dystrophy type I

Congenital hereditary endothelial dystrophy I (CHED I) is a rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision.


trigeminal nerve neoplasm

Benign and malignant neoplasms which arise from or metastasize to the trigeminal or fifth cranial nerve which provides sensory innervation to the face, oral cavity and sinuses and the muscles of mastication. Clinical features may include facial pain or sensory loss or weakness of jaw closure.


exposure, dental pulp

The result of pathological changes in the hard tissue of a tooth caused by carious lesions, mechanical factors, or trauma, which render the pulp susceptible to bacterial invasion from the external environment.


scalp defects-postaxial polydactyly syndrome

Scalp defects-postaxial polydactyly syndrome is characterized by congenital scalp defects and postaxial polydactyly type A.


blue nevus

An intradermal nevus characterized by the presence of benign pigmented dendritic spindle-shaped melanocytes. It most frequently occurs in the skin of the distal upper extremities, followed by the lower extremities, scalp, face, and buttocks. It usually presents as a single blue or blue-black papular lesion less than 1cm in diameter. Simple excision is usually curative.


progressive external ophthalmoplegia with mitochondrial DNA deletions


fungal infection of the toenail

A fungal infectious disease that involves the toenail.


Diamond-Blackfan anemia 14 with mandibulofacial dysostosis

Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the TSR2 gene.


Charcot-Marie-Tooth disease type 2Y

Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the VCP gene.


c-P angle neurinoma

A schwannoma occurring in the cerebellopontine angle.


microcephaly, growth restriction, and increased sister chromatid exchange 2


myopathy, lactic acidosis, and sideroblastic anemia 3


inborn disorder of pyrimidine metabolism

ANPM


sporadic fetal brain disruption sequence

Sporadic fetal brain disruption sequence is a rare, non-syndromic, central nervous system malformation disorder characterized by severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment. Brain imaging may show ventriculomegaly, cortical tissue deficit, and hydranencephaly.


cone-rod dystrophy 13

Any cone-rod dystrophy in which the cause of the disease is a mutation in the RPGRIP1 gene.


infertility due to extratesticular cause


spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits


posterior urethra cancer

A malignant neoplasm that affects the portion of the urethra that is close to the bladder.


partial duplication of the short arm of chromosome 16

Chromosome 16p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 16. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 16p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.


epidermal disease

A skin disease that involves the epidermis.


intellectual disability, autosomal recessive 5

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NSUN2 gene.


autosomal dominant cerebellar ataxia type IV


Frias syndrome

A rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression.


AIDS-related primary central nervous system lymphoma

A lymphoma (non-Hodgkin or Hodgkin) arising from the central nervous system and occurring in HIV-positive patients.


COG5-congenital disorder of glycosylation

COG5-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia.


granulomatous prostatitis

An infectious or non-infectious inflammatory process that affects the prostate gland. Infectious causative agents include bacteria, parasites, fungi, and viruses. It is characterized by the formation of granulomas in the prostatic tissue.


sex cord-stromal benign neoplasm

A reproductive organ benign neoplasm that arises in the ovary or testis and that is composed of granulosa cells, Leydig cells, Sertoli cells, and/or fibroblasts.


cataract 25

A cataract that has material basis in variation in the region 15q21-q22.


short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome


acute myeloid leukemia, t(1;22)

Any acute myeloid leukemia that has the chromosomal anomaly t(1;22). (A cytogenetic abnormality that involves a translocation between chromosomes 1 and 22.)


congenital disorder of glycosylation, type IAA


X-linked neurodegenerative syndrome, Bertini type is characterized by generalized hypotonia, psychomotor deficit, congenital ataxia and recurrent bronchopulmonary infections. It has been described in seven males from three generations of a family. Five of them died during the first years of life and the remaining patients developed myoclonic encephalopathy and macular degeneration. The locus has been mapped to Xp22.33-pter.


congenital retinal arteriovenous communication


extramedullary plasmacytoma

A plasma cell neoplasm arising at an extraosseous site. There is no involvement of the bone marrow. It most frequently involves the oropharynx, nasopharynx, sinuses, and larynx. Other sites of involvement include the gastrointestinal tract, central nervous system, breast, skin, lymph nodes, and bladder. A minority of patients have a monoclonal gammopathy. Treatment includes radiation therapy. Progression to plasma cell myeloma occurs in a minority of patients.


X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterized by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behavior, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region.


inherited focal segmental glomerulosclerosis

An instance of focal segmental glomerulosclerosis that is caused by an inherited genomic modification in an individual.


qualitative or quantitative defects of desmin


opioid abuse

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


acanthocephaliasis

An disease or disorder caused by infection with Acanthocephala.


hemorrhagic fever

An infectious disease caused by certain viruses or bacteria that can damage the walls of tiny blood vessels, making them leak, and can hamper the blood's ability to clot and cause severe, life-threatening illness.


frontotemporal dementia and/or amyotrophic lateral sclerosis


hereditary sensory and autonomic neuropathy type 1B

Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR).


chronic encephalitis

Chronic form of encephalitis.


fixed pigmented erythema

Round areas of red-purple reaction in the skin that result after drug exposure; these recur in the same location when the medication is readministered.


46,XY partial gonadal dysgenesis

46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype.


Smith-McCort dysplasia 2

Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the RAB33B gene.


benign epithelial tumor of salivary glands


postaxial tetramelic oligodactyly

Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993.


small cell osteogenic sarcoma

An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of small cells and osteoid production. The prognosis is usually unfavorable.


duplication of urethra

Duplication of the urethra is a rare congenital genitourinary anomaly, encompassing a wide spectrum of anatomic variants in which the urethra is partially or totally duplicated, which may be asymptomatic or cause symptoms such as incontinence, recurrent urinary infections and difficulty urinating.


Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.


hereditary arterial and articular multiple calcification syndrome

Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints.


intellectual disability, autosomal dominant 50


lymphangiomyoma

A neoplasm with perivascular epithelioid cell differentiation, often associated with tuberous sclerosis. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lymph nodes, lung, mediastinum, and retroperitoneum.


retinitis pigmentosa 62

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


neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies


partial duplication of the short arm of chromosome 4


inherited ichthyosis syndromic form

A inherited ichthyosis that is part of a larger syndrome.


combined immunodeficiency with skin granulomas


spinocerebellar ataxia, autosomal recessive 22

Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the VWA3B gene.


nephrogenic adenoma of urinary bladder

A metaplastic lesion of the urothelium found in the urinary bladder. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi.


ureteritis

An acute or chronic inflammatory process affecting the ureter.


Cowden syndrome 6

Any Cowden disease in which the cause of the disease is a mutation in the AKT1 gene.


thrombophilia due to protein C deficiency, autosomal dominant


partial duplication of the long arm of chromosome 1


Böök syndrome

Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics.


autosomal recessive primary microcephaly

Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.


congenital cataracts-facial dysmorphism-neuropathy syndrome

Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.


intellectual disability, autosomal dominant 16

Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCA4 gene.


infant botulism

A botulism that occurs between 28 days to one year of life..


autoimmune disease of ear, nose and throat

An autoimmune form of otorhinolaryngologic disease.


hereditary xanthinuria

Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis.


multiple personality disorder

A disorder characterized by the presence of two or more identities with distinct patterns of perception and personality which recurrently take control of the person's behavior; this is accompanied by a retrospective gap in memory of important personal information that far exceeds ordinary forgetfulness. The changes in identity are not due to substance use or to a general medical condition.


carbon monoxide poisoning

A poisoning that is caused by exposure to carbon monoxide.


Cowden syndrome 5

Any Cowden disease in which the cause of the disease is a mutation in the PIK3CA gene.


cataract 9 multiple types

Any cataract (disease) in which the cause of the disease is a mutation in the CRYAA gene.


finger agnosia

An agnosia characterized by an inabilty to distinguish, name, or recognize the fingers


congenital accessory mitral valve tissue

Accessory mitral valve tissue is a congenital non-syndromic heart malformation defined as an accessory mitral valve leaflet or various accessory mitral valve structures. It may be asymptomatic or present at various ages with symptoms of left ventricular outflow tract obstruction, low cardiac output due to subaortic obstruction or congestive heart failure. In some cases, it may be a source of cardioembolism. The malformation may be isolated or associated with other congenital heart malformations.


Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability.


mitochondrial complex 1 deficiency, nuclear type 21


inherited thrombocytopenia

An instance of thrombocytopenia that is inherited.


Ritscher-Schinzel syndrome

Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies.


partial circumpapillary choroid dystrophy


Bunyaviridae infectious disease

Virus diseases caused by the bunyaviridae.


chromosome 2p16.1-p15 deletion syndrome

2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.


congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females.


cryptogenic late-onset epileptic spasms

Cryptogenic late-onset epileptic spasms is a rare epilepsy syndrome characterized by late-onset (after 1 year old) epileptic spasms that ocurr in clusters, associated with tonic seizures, atypical absences and cognitive deterioration. Language difficulties and behavior problems are frequently present. EEG is characterized by a temporal, or temporofrontal, slow wave or spike focus combined with synchronous spike-waves and no hypsarrhythmia or background activity.


totally drug-resistant tuberculosis

A type of drug-resistant tuberculosis that is resistant to all first- and second-line antitubercular drugs tested (isoniazid, rifampicin, streptomycin, ethambutol, pyrazinamide, ethionamide, para-aminosalicylic acid, cycloserine, ofloxacin, amikacin, ciprofloxacin, capreomycin, kanamycin).


inherited renal cancer-predisposing syndrome


hidrotic ectodermal dysplasia, Christianson-Fourie type

Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachicardia or sinus bradicardia.


isolated trigonocephaly

Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture.


acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent

Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent is a subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain).


multiple mitochondrial DNA deletion syndrome

A mitochondrial oxidative phosphorylation disorder in which mitochondrial DNA (mtDNA) level is lower than normal.


Barmah forest virus disease

A disease caused by infection with Barmah Forest virus.


isolated congenitally uncorrected transposition of the great arteries


oculoauricular syndrome

Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy), and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisure, abnormal bridge connecting the crus of the helix and the anthelix, narrow external acoustic meatus, and lobule aplasia).


trigonitis

Inflammation of the trigone of the urinary bladder.


retinitis pigmentosa 38

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


Alzheimer disease 12

An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22.


nemaline myopathy 3

An inherited myopathy caused by mutations in the ACTA1 gene, encoding actin, alpha skeletal muscle. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, typically involving proximal muscles, the face, bulbar and respiratory muscles.


autosomal recessive nonsyndromic hearing loss 40

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 22q11.21-q12.1.


microcephaly 21, primary, autosomal recessive


vulva sarcoma

A malignant mesenchymal neoplasm that arises from the vulva. Representative examples include childhood botryoid-type embryonal rhabdomyosarcoma, alveolar soft part sarcoma, and leiomyosarcoma.


Charcot-Marie-Tooth disease axonal type 2P

Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the LRSAM1 gene.


autosomal recessive osteopetrosis 8

Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the SNX10 gene.


lateral sclerosis

Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production.


episodic ataxia type 3

Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia.


viral exanthem

A virus-induced exanthem


paranoid personality disorder

A disorder characterized by an enduring pattern of behavior based on the pervasive belief that the motives of others are malevolent and that they should not be trusted.


skull base chordoma

A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells..


photosensitive trichothiodystrophy

A trichothiodystrophy that is photosensitive, and caused by defects in the NER pathway


startle epilepsy

Startle epilepsy is a rare neurologic disease characterized by frequent and spontaneous epileptic seizures (frequently with symmetrical or asymmetrical tonic features) triggered by a normal startle in response to a sudden and unexpected somatosensory (most frequently auditory) stimulus. Falls are common and can be traumatic. In most cases, the disease is associated with spastic hemi-, di-, or tetraplegia and intellectual disability.


proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis


microcephaly and chorioretinopathy 1

An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy.


neurodevelopmental disorder with eye movement abnormalities and ataxia


glomerulopathy with fibronectin deposits 1


neuroaspergillosis

Infections of the nervous system caused by fungi of the genus aspergillus, most commonly aspergillus fumigatus. Aspergillus infections may occur in immunocompetent hosts, but are more prevalent in individuals with immunologic deficiency syndromes. The organism may spread to the nervous system from focal infections in the lung, mastoid region, sinuses, inner ear, bones, eyes, gastrointestinal tract, and heart. Sinus infections may be locally invasive and enter the intracranial compartment, producing meningitis, fungal; cranial neuropathies; and abscesses in the frontal lobes of the brain. (From Joynt, Clinical Neurology, 1998, Ch 27, pp62-3)


intellectual disability, autosomal recessive 11


prediabetes syndrome

A condition in which blood glucose levels are high, but not high enough to be classified as type 2 diabetes.


chronic monocytic leukemia

Form of leukemia characterized by an uncontrolled proliferation of the myeloid lineage and their precursors (myeloid progenitor cells) in the bone marrow and other sites.


Marburg acute multiple sclerosis

Marburg acute multiple sclerosis is a rare variant of multiple sclerosis characterized by a rapidly progressive, aggressive form of multiple sclerosis with numerous large multifocal demyelinating lesions in deep white matter on cerebral MRI that usually leads to severe disability or death within weeks to months without remission. A relapsing form of multiple sclerosis is observed in surviving patients.


microcephaly 25, primary, autosomal recessive


carnitine palmitoyl transferase II deficiency, myopathic form

The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency.


partial trisomy/tetrasomy of chromosome 18

A chromosomal disorder characterized by the presence of extra copy/copies of part of chromosome 18.


PLA2G6-associated neurodegeneration

Any neurodegeneration with brain iron accumulation in which the cause of the disease is a mutation in the PLA2G6 gene.


citrullinemia type I

Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I) and by variable hyperammonemia in the later-onset form (adult-onset citrullinemia type I).


malignant atrophic papulosis

Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal.


neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies


dominant hypophosphatemia with nephrolithiasis or osteoporosis


neurodegeneration with brain iron accumulation

Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system.


CEDNIK syndrome

CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.


autosomal dominant medullary cystic kidney disease with or without hyperuricemia

A genetic kidney disease that causes progressive loss of kidney function caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), or mucin-1 (MUC1).


excretory apparatus of the lacrimal system anomaly


immunodeficiency 49

Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL11B gene.


Renin-angiotensin-aldosterone system (RAAS)-blocker induced angioedema (RAE) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.


myopathy of extraocular muscle

A myopathy that involves the extra-ocular muscle.


intellectual disability, X-linked 90

Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the DLG3 gene.


achondrogenesis type II

Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.


sacral nerve plexus disorder

A disease that involves the sacral nerve plexus.


heavy chain disease

Heavy-chain diseases (HCDs) are rare monoclonal lymphoplasma-cell proliferative disorders involving B cells and are characterized by the synthesis of truncated heavy chains without associated light chains.


autosomal dominant Ehlers-Danlos syndrome, vascular type

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


brain dopamine-serotonin vesicular transport disease

Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.


spinocerebellar ataxia type 42

An autosomal dominant form of spinocerebellar ataxia caused by mutation(s) in the CACNA1G gene, encoding voltage-dependent T-type calcium channel subunit alpha-1G.


dehydrated hereditary stomatocytosis

Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed.


osteochondrosis of genetic origin

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


Al-Gazali syndrome

An autosomal recessive syndrome characterized by joint contractures, skeletal abnormalities, anterior segment anomalies of the eye and early lethality.


congenital stationary night blindness autosomal dominant 1

Any congenital stationary night blindness in which the cause of the disease is a mutation in the RHO gene.


superior vena cava angiosarcoma

A malignant vascular neoplasm arising from the superior vena cava.


chronic polyneuropathy

Polyneuropathy that is persistent or long-standing in nature.


ATP1A3-associated neurological disorder

Any neurological disorder in which the cause of the disease is a mutation in the ATP1A3.


hypogonadotropic hypogonadism 16 with or without anosmia

Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SEMA3A gene.


Niemann-Pick disease type A

Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders.


autosomal dominant nonsyndromic hearing loss 33

An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 13q34.


Balint syndrome

Balint syndrome is a rare neurologic disease characterized by the triad of optic ataxia, ocular apraxia and simultanagnosia due to posterior parietal lobe lesions. Patients report ophthalmologic difficulties in the absence of underlying ophthalomologic anomalies and present severe visual and spatial disabilities in locating and reaching objects, initiating voluntary eye movements and perceiving more than one object at a time.


Meckel syndrome, type 4

Any Meckel syndrome in which the cause of the disease is a mutation in the CEP290 gene.


syndromic X-linked intellectual disability 17

Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals.


posterior amorphous corneal dystrophy

Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision.


osteochondritis of tarsal/metatarsal bone

A rare bone disease characterized by avascular necrosis of the navicular bone in children. Patients present with sudden unexplained foot pain, inability to bear weight, and limping. Radiographic features include flattening, fragmentation, and patchy sclerosis of the navicular bone. Soft tissue swelling may be associated. The condition is most commonly unilateral and self-limiting. Boys are more often affected than girls.


Charcot-Marie-Tooth disease dominant intermediate B

Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.


spermatogenic failure 17

Any azoospermia in which the cause of the disease is a mutation in the PLCZ1 gene.


ossifying fibromyxoid tumor

A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. The lesions are associated with the formation of metaplastic bone. Most patients present with painless subcutaneous masses. Recurrences have been reported in a minority of patients.


neurodevelopmental disorder with midbrain and hindbrain malformations


ulceroglandular tularemia

A tularemia that results in painful regional lymphadenopathy and an ulcerated skin lesion.


mitochondrial complex 4 deficiency, nuclear type 21


Circumscribed palmoplantar hypokeratosis is an ectodermal dysplasia characterized by circular, well-circumscribed patches of erythematous depressed skin.


Kikuchi-Fujimoto disease

Kikuchi-Fujimoto disease (KFD) is a benign and self-limited disorder, characterized by regional cervical lymphadenopathy with tenderness, usually accompanied with mild fever and night sweats. Less frequent symptoms include weight loss, nausea, vomiting, sore throat.


retinitis pigmentosa 59

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


uvulitis

Inflammation of the uvula.


medium/large size posterior uveal melanoma

Ciliary body and choroid melanoma measuring between 2.5 mm and 10 mm in height and 16 mm or less in basal diameter (medium-sized) or more than 10 mm in height or more than 2 mm in height and more than 16 mm in basal diameter or more than 8 mm in height with optic nerve involvement (large-sized). (Collaborative Ocular Melanoma Study)


mitochondrial complex 1 deficiency, nuclear type 2


hereditary spastic paraplegia 26

A rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1.


enhanced S-cone syndrome

An autosomal recessive retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones. Characteristics include visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration.


sarcoma of cervix uteri

A sarcoma involving a uterine cervix.


antisynthetase syndrome

Antisynthetase (AS) syndrome is a clinically heterogeneous form of idiopathic inflammatory myopathy characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease (ILD), and serum autoantibodies to aminoacyl transfer RNA synthetases (anti-ARS).


cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome


adult brain stem neoplasm

A brainstem neoplasm that occurs in an adult.


human T-lymphotropic virus 1 infectious disease

A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has material basis in Human T-lymphotropic virus 1, which is transmitted by sexual contact, transmitted by contaminated needles used by intravenous-drug users, and transmitted by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder.


dystrophic epidermolysis bullosa pruriginosa

Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus.


smoldering plasma cell myeloma

A plasma cell myeloma lacking clinical manifestations and organ impairment.


endometrial stromal nodule

A non-infiltrating, benign mesenchymal neoplasm arising from the uterine corpus. It is characterized by the presence of neoplastic cells that resemble the cells of the proliferative phase of endometrial stroma and numerous thin-walled small vessels. It usually presents with abnormal uterine bleeding and menorrhagia.


intellectual disability, autosomal dominant 46


macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterized by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behavior, and café-au-lait spots, among others.


chylomicron retention disease

Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications.


nasopharyngeal disorder

A non-neoplastic or neoplastic disorder that affects the nasopharynx. Representative examples include nasopharyngitis, angiofibroma, and carcinoma.


chondrocalcinosis due to apatite crystal deposition


self-healing papular mucinosis

Self-healing papular mucinosis is a rare form of localized lichen myxedematosus occurring primarily in children and characterized by the development of mucinous papules on various parts of the body (face, neck, trunk, and limbs) that resolve spontaneously within some weeks to months. Systemic symptoms can be observed such as fever, arthralgias and weakness.


mature cataract

A cataract that produces swelling and opacity of the entire lens; cataracts are removed before maturity.


aplasia cutis congenita dominant

Aplasia cutis congenita with with autosomal dominant inheritance with reduced penetrance.


autosomal recessive congenital ichthyosis

Autosomal recessive form of inherited ichthyosis.


testicular pure germ cell tumor

A germ cell tumor that arises from the testis and is characterized by the presence of one histologic component. This category includes seminoma, teratoma, embryonal carcinoma, yolk sac tumor, and trophoblastic tumor.


chronic congestive splenomegaly

Chronic form of congestive splenomegaly.


hyperostosis corticalis generalisata

Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies.


skeletal ligament disorder

A disease or disorder that involves the skeletal ligament.


inherited nervous system cancer-predisposing syndrome


congenital generalized hypercontractile muscle stiffness syndrome


spondyloepimetaphyseal dysplasia, Handigodu type

A rare, genetic, primary bone dysplasia characterized by three distinct phenotypes, namely: 1) patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities, 2) short-statured patients with predominantly truncal shortening, arm span exceeding height, dyspalstic changes of hips and varying degrees of platyspondyly, and 3) patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces and sclerotic and cystic changes on imaging.


renal hypertension

Hypertension caused by the kidney's hormonal response to narrowing or occlusion of the renal arteries.


female reproductive organ cancer

A primary or metastatic malignant neoplasm involving the female reproductive system. Representative examples include endometrial carcinoma, cervical carcinoma, ovarian carcinoma, uterine corpus leiomyosarcoma, adenosarcoma, malignant mixed mesodermal (mullerian) tumor, and gestational choriocarcinoma.


microcephaly 3, primary, autosomal recessive

Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK5RAP2 gene.


disorder of magnesium transport

An inherited metabolic disease that is has its basis in the disruption of magnesium ion transport.


colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome


chondrodysplasia punctata, Toriello type

Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported.


integumentary system benign neoplasm

A benign neoplasm that involves the integumental system.


hereditary motor and sensory neuropathy with acrodystrophy

A rare axonal hereditary motor and sensory neuropathy characterized by progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999.


3-M syndrome

3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.


muscular dystrophy, limb-girdle, autosomal dominant

Autosomal dominant form of limb-girdle muscular dystrophy.


oromandibular-limb hypogenesis syndrome

Oromandibular-limb hypogenesis syndromes (OLHS) are a group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) characterized by the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies).


craniosynostosis, Herrmann-Opitz type

Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterized by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (incl. syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987.


larynx liposarcoma

A rare malignant adipose tissue neoplasm of the larynx. It predominantly affects males. Clinical presentation includes dysphonia, dysphagia and respiratory symptoms. The supraglottis is the most common site of involvement.


neurodevelopmental disorder with structural brain anomalies and dysmorphic facies


auditory system disorder

A disease involving the auditory system.


palmoplantar keratoderma, punctate type ib


nabothian cyst

A benign, mucus-filled cervical cyst that occurs when mucus-secreting columnar epithelial cells are covered with squamous epithelium.


benign choroid plexus neoplasm

A benign neoplasm involving the choroid plexus.


prostatic urethral cancer

A male urethral cancer that involves the prostatic urethra.


An inherited metabolic disease that is has its basis in the disruption of thiopurine S-methyltransferase activity.


Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder.


punctate palmoplantar keratoderma type III

Acrokeratoelastoidosis of Costa is a rare dermatosis characterized by small, firm papules or plaques (resembling warts) on the sides of the hands and feet. These stationary and asymptomatic lesions appear generally at puberty, or sometimes later


arthrogryposis, renal dysfunction, and cholestasis 1

Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VPS33B gene.


bulbospinal polio

A paralytic poliomyelitis in which the site of paralysis is the bulbospinal tract.


primary viral infectious disease

The initial viral infectious disase that causes illness.


posterolateral myocardial infarction

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


distal trisomy 16q

Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (incl. high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported.


sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome


Nager acrofacial dysostosis

Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.


central centrifugal cicatricial alopecia


torovirus infectious disease

Infections with viruses of the genus torovirus, family coronaviridae.


lentivirus infection

Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection.


renal hypoplasia, unilateral

Unilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which one kidney is small and has a deficit in the number of nephrons present.


topographical agnosia

An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognize objects.


intellectual disability, X-linked 99

Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP9X gene.


Aicardi-Goutieres syndrome 4

Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2A gene.


cyclosporiasis

A protozoan infection that is caused by Cyclospora cayetanensis, which is most commonly acquired from contaminated food or water, and which is characterized by watery diarrhea and abdominal pain.


congenital complete agenesis of pericardium

Congenital complete agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation characterized by the complete absence of the entire pericardium, or by the absence of either the right (uncommon) or left pericardium. It is occasionally associated with chest pain (common), dyspnea, dizziness, bradycardia and syncope, while exertional manifestations are rare. The disease is usually incidentally diagnosed during surgery or at autopsy.


exostosis, Dupuytren subungual

A benign lesion that affects the distal phalanx, most often the great toe.  Grossly it consists of a cartilage cap and a bony stalk.  Microscopically it is characterized by an osteochondromatous proliferation with a gradual transition of a peripheral spindle-cell proliferation to hyaline cartilage to trabecular bone.  Pain and swelling are present.  Simple resection is usually curative.


autoimmune encephalopathy with parasomnia and obstructive sleep apnea

Autoimmune encephalopathy with parasomnia and obstructive sleep apnea is a rare neurologic disorder characterized by a unique non-REM and REM parasomnia with sleep breathing dysfunction, gait instability and repetitive episodes of respiratory insufficiency, as well as autoantibodies against IgLON5. Patients may present stridor, chorea, limb ataxia, abnormal ocular movements, and bulbar symptoms (i.e. dysphagia, dysarthria, episodic central hypoventilation) with normal brain MRI. Excessive day sleepiness and cognitive deterioration have also been reported.


palmoplantar keratoderma, Nagashima type

Keratosis, Nagashima-type is a transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda.


Lisch epithelial corneal dystrophy

Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision.


autosomal recessive nonsyndromic hearing loss 70

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PNPT1 gene.


cellular phase chronic idiopathic myelofibrosis

Primary myelofibrosis characterized by bone marrow hypercellularity and the presence of atypical megakaryocytes. There is no increase in the percentage of myeloblasts and no significant increase in reticulin or collagen fibrosis in the bone marrow.


C1q nephropathy

C1q nephropathy is a kidney disease in which a large amount of protein is lost in the urine. It is one of the many diseases that can cause the nephrotic syndrome.


neutrophil actin dysfunction

Solitary or multiple, slightly raised, pigmented lesions with irregular borders, usually measuring more than 0.6cm in greatest dimension. Morphologically, there is melanocytic atypia and the differential diagnosis from melanoma may be difficult. Patients are at an increased risk for the development of melanoma.


cancer of long bone of upper limb

A cancer that involves the upper limb long bone.


Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance.


catecholaminergic polymorphic ventricular tachycardia

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death.


Familial digital arthropathy-brachydactyly is characterized by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant.


congenital absence/hypoplasia of thumb, unilateral

Congenital absence/hypoplasia of thumb, unilateral is a rare developmental defect during embryogenesis characterized by the unilateral underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb.


congenital neuronal ceroid lipofuscinosis

Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy.


lysosomal acid lipase deficiency

Lysosomal acid lipase deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease, or 2) a less severe form, cholesteryl ester storage disease, of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis.


malignant tenosynovial giant cell tumor

An uncommon malignant tumor arising from the tendon sheath. Morphologically, it is characterized by the presence of a cellular infiltrate reminiscent of a giant cell tumor with prominent malignant characteristics. Recurrent giant cell tumors with a sarcomatous dedifferentiation are included in this category as well.


GTP cyclohydrolase I deficiency with hyperphenylalaninemia

An autosomal recessive condition caused by mutation(s) in the GCH1 gene, encoding GTP cyclohydrolase 1. It is characterized by hyperphenylalaninemia and GTP cyclohydrolase 1-deficient dopa-responsive dystonia.


acute myeloid leukemia, t(16;16)(p13.1;q22)

Any acute myeloid leukemia that has the chromosomal anomaly t(16;16)(p13.1;q22). (A chromosomal translocation that involves chromosome 16. It is often associated with the development of acute myeloid leukemia CBFB-MYH11, acute myelomonocytic leukemia with abnormal eosinophils, and granulocytic sarcoma.)


intellectual disability, X-linked, syndromic, Houge type


autosomal dominant optic atrophy and peripheral neuropathy

Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance.


nephronophthisis-like nephropathy 1

Any nephronophthisis in which the cause of the disease is a mutation in the XPNPEP3 gene.


paroxysmal Hemicrania

Paroxysmal hemicrania (PH) is a primary headache disorder characterized by multiple attacks of unilateral pain that occur in association with cranial autonomic symptoms. The hallmarks of this syndrome are the relative shortness of the attacks and the complete response to indomethacin therapy.


congenital stationary night blindness autosomal dominant 2

Any congenital stationary night blindness in which the cause of the disease is a mutation in the PDE6B gene.


autosomal recessive nonsyndromic hearing loss 18A

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the USH1C gene.


autosomal recessive nonsyndromic hearing loss 89

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


Gaucher disease due to saposin C deficiency

Any Gaucher disease in which the cause of the disease is a mutation in the PSAP gene.


neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies


undifferentiated pleomorphic sarcoma

An undifferentiated soft tissue sarcoma characterized by the presence of a pleomorphic malignant cellular infiltrate. It is also known as malignant fibrous histiocytoma.


retinitis pigmentosa 6

A retinitis pigmentosa that has material basis in variation in the chromosome region Xp21.3-p21.2.


dystrophies primarily involving the retinal pigment epithelium


spleen neoplasm

A benign or malignant neoplasm that affects the spleen. Representative examples include hemangioma, lymphoma, splenic involvement by leukemia, and angiosarcoma.


Upington disease

Upington disease is characterized by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant.


paroxysmal nocturnal hemoglobinuria 1

Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGA gene.


Langer mesomelic dysplasia

Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs.


XYLT1-congenital disorder of glycosylation


Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S).


Microcornea-corectopia-macular hypoplasia syndrome is characterized by microcornea, which may also be accompanied by corectopia and macular hypoplasia. It has been described in three individuals from two successive generations of one family.


autoimmune optic neuritis

An autoimmune form of optic neuritis.


microcephalic osteodysplastic primordial dwarfism type II

A form of microcephalic primordial dwarfism (MPD) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.


aniridia-cerebellar ataxia-intellectual disability syndrome

Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.


cardiovascular organ benign neoplasm

A benign neoplasm that involves the cardiovascular system.


combined immunodeficiency due to moesin deficiency


Stern-Lubinsky-Durrie syndrome

Stern-Lubinsky-Durrie syndrome is characterized by corneal epithelial changes (associated with photophobia and burning and watering of the eyes), diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, dental problems, and premature birth. It has been described in seven individuals from three generations of one family. It is transmitted as an autosomal dominant trait.