benign neoplasm of lymph node

A benign neoplasm that involves the lymph node.


polydactyly, postaxial, type A9

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autosomal recessive congenital ichthyosis 6

Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the NIPAL4 gene.


familial cold autoinflammatory syndrome 4

Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRC4 gene.


SchC6pf-Schulz-Passarge syndrome

A rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy.


hereditary photodermatosis

Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies.


Wernicke encephalopathy

An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. thiamine deficiency and chronic alcoholism are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to korsakoff syndrome. (Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3)


growth hormone insensitivity with immune dysregulation 1, autosomal recessive


deafness, autosomal dominant 39, with dentinogenesis imperfecta 1


benign neoplasm of major salivary gland

A benign neoplasm that involves the major salivary gland.


postaxial polydactyly type B, unilateral


X-linked recessive ocular albinism

X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males.


intellectual disability, autosomal dominant 24

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DEAF1 gene.


autosomal recessive nonsyndromic hearing loss 61

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SLC26A5 gene.


adrenocortical hypofunction, chronic primary congenital


agammaglobulinemia 2, autosomal recessive

Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the IGLL1 gene.


catamenial pneumothorax

Catamenial pneumothorax is an extremely rare condition that affects women. Pneumothorax is the medical term for a collapsed lung, a condition in which air or gas is trapped in the space surrounding the lungs causing the lungs to collapse. Women with catamenial pneumothorax have recurrent episodes of pneumothorax that occur within 72 hours before or after the start of menstruation. The exact cause of catamenial pneumothorax is unknown and several theories have been proposed. Many cases are associated with the abnormal development of endometrial tissue outside of the uterus (endometriosis). Some believe that catamenial pneumothorax is the most common form of thoracic endometriosis (a condition in which the endometrial tissue grows in or around the lungs). A diagnosis of catamenial pneumothorax is usually suspected when a woman of reproductive age and with endometriosis has episodes of pneumothorax.Treatment is with hormones and surgery.


acute mast cell leukemia

A rare systemic mastocytosis characterized by the presence of at least 20% usually immature and atypical mast cells in bone marrow aspirate smears. In classic mast cell leukemia, mast cells account for at least 10% of peripheral white blood cells, although the aleukemic variant with less than 10% mast cells is more common. C-findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption), indicative of organ damage due to mast cell infiltration, are usually present at diagnosis, while skin lesions are absent in most cases. Prognosis is generally poor.


aspirin-induced respiratory disease

An intrinsic asthma that is characertized by severe and prolonged airway obstruction after the ingestion of aspirin or other non-steroidal anti-inflammatory drugs.


acrocapitofemoral dysplasia

Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.


mitochondrial complex 1 deficiency, nuclear type 18


osteomesopyknosis

Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content.


chromosome 7 disorder

Chromosomal disorder in which chromosome 7 is affected.


acinar dysplasia caused by mutation in FGFR2

Any acinar dysplasia in which the cause of the disease is a mutation in the FGFR2 gene.


gonadal agenesis

A congenital disorder characterized by the complete absence of gonadal tissue.


humerus trochlea aplasia

Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus.


spinal arachnoiditis

A chronic adhesive arachnoiditis in the spinal arachnoid, with root and spinal cord symptoms similar to those caused by pressure from a tumor.


Seckel syndrome 2

Any Seckel syndrome in which the cause of the disease is a mutation in the RBBP8 gene.


retinal dystrophies primarily involving Bruch's membrane

A retinal dystrophy with etiology arising from Bruch's membrane, the site of drusen generation.


KCNH1 associated disorder

Any neurodevelopmental disorder in which the cause of the disease is a mutation in the KCNH1 gene. Variants in KCNH1 cause significant neurodevelopmental disabilities that lie along a phenotypic spectrum ranging from non-syndromic to syndromic. The most common phenotypes associated with variants in KCNH1 include intellectual disability, seizures, hypotonia, absence or hypoplasia of nails, and gingival enlargement. Hypoplastic terminal phalanges of fingers and toes, proximal placement and long thumb, and long toes present less frequently.


osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures

An osteogenesis imperfecta found in a single South African family.


mitochondrial complex V (ATP synthase) deficiency, nuclear type 7


persistent hyperplastic primary vitreous, autosomal recessive

Autosomal recessive form of persistent hyperplastic primary vitreous.


bladder dome cancer

Cancer of the upper, convex surface of the bladder.


familial primary hypomagnesemia with hypocalcuria


mesothelioma

A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos.


classic homocystinuria

Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system.


acute myeloid leukemia, WT1 gene mutation

Any acute myeloid leukemia that has the chromosomal anomaly WT1 gene mutation. (A change in the nucleotide sequence of the WT1 gene.)


Klippel-Feil syndrome 2, autosomal recessive

Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the MEOX1 gene.


fish disease

Diseases of freshwater, marine, hatchery or aquarium fish. This term includes diseases of both teleosts (true fish) and elasmobranchs (sharks, rays and skates).


musculoskeletal system benign neoplasm

A benign neoplasm that involves the musculoskeletal system.


qualitative or quantitative defects of dystrophin


polyomavirus infectious disease

Infections with polyomavirus, which are often cultured from the urine of kidney transplant patients. Excretion of bk virus is associated with ureteral strictures and cystitis, and that of jc virus with progressive multifocal leukoencephalopathy (leukoencephalopathy, progressive multifocal).


congenital analbuminemia

Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA).


DDOST-congenital disorder of glycosylation

DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1).


otopalatodigital syndrome type 2

A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.


renal tubular dysgenesis due to twin-twin transfusion

An acquired form of renal tubular dysgenesis that develops in donor fetuses due to the uneven shunting of growth factor and nutrients to the kidney of the recipient and is characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects).


lumbar disk disease

A vertebral column disorder caused by degeneration of intervertebral disks of the lumbar spine. One of the most common musculoskeletal disorders, it has strong genetic determinants.


Treponema infectious disease

An disease caused by infection with Treponema.


X-linked intellectual disability-cubitus valgus-dysmorphism syndrome

An X-linked syndromic intellectual disability characterized by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive.


spinocerebellar ataxia type 13

Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia.


malignant syringoma

A malignant form of syringoma.


adult malignant mesenchymoma

A malignant mesenchymoma occurring in adults.


autoimmune hemolytic anemia, warm type

Warm autoimmune hemolytic anemia is the most common form of autoimmune hemolytic anemia defined by the presence of warm autoantibodies against red blood cells (autoantibodies that are active at temperatures between 37-40B0C).


acute myeloid leukemia, t(10;11)(p11.2;q23)

Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p11.2;q23). (A cytogenetic abnormality that refers to the translocation of the short arm (p11.2) of chromosome 10 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/ABI1 fusions and acute myeloid leukemia.)


hereditary spastic paraplegia 41

Autosomal dominant spastic paraplegia type 41 is a pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise.


glycogen storage disease due to aldolase A deficiency

Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggerd by fever) without hemolytic anemia has recently been reported.


western equine encephalitis

An acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that more frequently affects children and that is characterized by the presence of mild flulike symptoms (fever, chills, headache, nausea, vomiting, and anorexia) but that can progress to weakness, altered mental status, photophobia, mental confusion, seizures, somnolence, coma and/or even death. The disease can leave neurological sequelae, mainly in infants and children, such as seizures, spasticity or behavioral disorders.


polymorphous low grade neuroepithelial tumor of the young

A central nervous system benign neoplasm that is characterized by the presence of oligodendroglioma-like components, may also contain astrocytic components and is associated with seizures and in many cases refractory epilepsy.


scrotum cancer

A primary or metastatic malignant neoplasm affecting the scrotum.


segmental odontomaxillary dysplasia

Segmental odontomaxillary dysplasia (SOD) is a rare disorder characterized by unilateral enlargement of the right or left maxillary alveolar bone and gingiva in the region from the back of the canines to the maxillary tuberosity. In the enlarged region, dental abnormalities such as missing teeth, abnormal spacing and delayed eruption occur.


mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant


mandibulofacial dysostosis with alopecia

A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia.


hereditary motor and sensory neuropathy

A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-Tooth DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)


acral self-healing collodion baby

Acral self-healing collodion baby (SHCB) is a variant of SHCB characterized by the presence at birth of a collodion membrane only at the extremities.


congenital pulmonary airway malformation type 4


Smith-McCort dysplasia

Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC.


autosomal recessive nonsyndromic hearing loss 83

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 9p23-p21.2.


bizarre leiomyoma

A morphologic variant of leiomyoma characterized by the presence of pleomorphic muscle cells with bizarre hyperchromatic nuclei and eosinophilic cytoplasm.


scapuloperoneal spinal muscular atrophy, autosomal recessive


acute myeloid leukemia, monoallelic CEBPA gene mutation

Any acute myeloid leukemia that has the chromosomal anomaly monoallelic CEBPA gene mutation. (The presence of mutations in only one allele of the CEBPA gene.)


specific granule deficiency 2

Specific granule deficiency-2 is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include hypercellularity, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and most patients die in early childhood unless they undergo hematopoietic stem cell transplantation. Some patients may have additional findings, including delayed development, mild dysmorphic features, and distal skeletal anomalies (summary by {2:Witzel et al., 2017}).nnFor a discussion of genetic heterogeneity of SGD, see SGD1 (OMIM:245480).


spastic ataxia-corneal dystrophy syndrome

Mousa-AlDin-AlNassar syndrome is characterized by the presence of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia.


brachydactyly type A7

Brachydactyly type A7 (Smorgasbord type) is a form of brachydactyly that presents with the characteristic features of brachydactyly type A2 (shortening of the middle phalanges of the index finger and, sometimes, of the little finger) and type D (shortening of the distal phalanx of the thumb) plus various additional features.


inborn disorder of ornithine metabolism

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


postprandial hypotension

Drastic decline in blood pressure which happens after eating a meal and most likely due to insufficient compensation in cardiac output by the autonomic nervous sytem for the diversion of blood to the intestines.


Filippi syndrome

Filippi syndrome is characterized by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.


hypothalamic disorder

Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; autonomic nervous system diseases; sleep disorders; behavioral symptoms related to dysfunction of the limbic system; and neuroendocrine disorders.


X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome


acute disseminated encephalomyelitis

Acute disseminated encephalomyelitis (ADEM) is a demyelinating disorder of the central nervous system.


optic nerve neoplasm

Benign and malignant neoplasms which arise from or metastasize to the optic or second cranial nerve which extends from the optic disk of the eye and joins the optic chiasm. Clinical features may include visual loss, proptosis, and local pain. The majority of optic nerve tumors or optic gliomas.


adult Refsum disease due to PEX7 defect

An adult Refsum disease in which the cause of the disease is a mutation in the PEX7 gene.


IDH3B-related retinopathy

An inherited retinopathy caused by bi-allelic variants in the IDH3B gene.


inherited primary ovarian failure

An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome.


neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements


mitochondrial complex III deficiency, nuclear type


Riley-Day syndrome

A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system.


amyotrophic lateral sclerosis type 9

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


congenital myasthenic syndrome 4A

A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13.


renal tubular acidosis, distal, 3, with or without sensorineural hearing loss


skeletal fluorosis

A condition that results from excessive fluoride ingestion leading to fluoride accumulation in the bone progressively over many years. The early symptoms of skeletal fluorosis, include stiffness and pain in the joints. In severe cases, the bone structure may change and ligaments may calcify, with resulting impairment of muscles and pain.


spondyloepiphyseal dysplasia, Cantu type

Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia).


allergic respiratory disease

A respiratory system disease with a basis in a pathological type I hypersensitivity reaction.


familial partial lipodystrophy, Kobberling type

Familial partial lipodystrophy, Kobberling type, is a very rare form of familial partial lipodystrophy (FPLD) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant.


Bardet-Biedl syndrome 15

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


pentosuria

Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day.


rheumatoid factor-positive polyarticular juvenile idiopathic arthritis

A category of juvenile idiopathic arthritis defined by the presence of arthritis affecting five or more separate joints during the first six months of disease, with positive serologic testing for rheumatoid factor.


X-linked dystonia-parkinsonism

X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course.


BH4-deficient hyperphenylalaninemia A

An autosomal recessive condition caused by mutation(s) in the PTS gene, encoding 6-pyruvoyl tetrahydrobiopterin synthase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits.


ciliary dyskinesia with excessively long cilia


fungal discitis

Discitis caused by infection with fungi.


pericoronitis

Inflammation of the gingiva surrounding the crown of a tooth.


inherited porphyria

Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both.


peeling skin syndrome type A

Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS, a type of ichthyosis, characterized by generalized white scaling and superficial painless peeling of the skin.


vestibular ataxia

Any ataxia in which the causes of the disease is a perturbation of the vestibular system, leading to its dysfunction.


obesity due to congenital leptin deficiency

Congenital leptin deficiency is a form of monogenic obesity characterized by severe early-onset obesity and marked hyperphagia.


neuronal ceroid lipofuscinosis 13

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


non-distal monosomy 10q

Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported.


paranoid schizophrenia

A subtype of schizophrenia characterized by prominent delusions (typically persecutory or grandiose) or hallucinations in the context of a relative preservation of cognitive functioning and affect.


toxocara canis infection (canine roundworms)


ocular cystinosis

Ocular cystinosis is the benign, adult form of cystinosis, a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations.


secondary antiphospholipid syndrome

An antiphospholipid syndrome that occurs alongside another autoimmune disorder.


IgG4-related dacryoadenitis and sialadenitis

IgG4-related dacryoadenitis and sialoadenitis (Mikulicz disease) is an IgG4-related sclerosing disease characterized by persistent, usually painless, bilateral enlargement of the lacrimal, parotid, and submandibular glands associated with elevated levels of serum immunoglobulin (Ig) G4 and with lymphocyte and IgG4-positive plasmacyte infiltration. It predominantly causes mouth and eye dryness but can also affect other organs such as the lungs, liver, and kidneys, and be accompanied by complications such as autoimmune pancreatitis (AIP), retroperitoneal fibrosis, and tubulointerstitial nephritis.


intradermal nevus

A nevus characterized by the proliferation of nevus cells in the dermis without involvement of the dermal-epidermal junction.


dissociative amnesia

A disorder characterized by a retrospective gap in memory of important personal information, usually of a traumatic or stressful nature; the memory loss far exceeds ordinary forgetfulness and is not the result of substance use or the consequence of a medical condition.


dysplasia epiphysealis hemimelica

Dysplasia epiphysealis hemimelica (DEH), or Trevor's disease, is a rare condition that most commonly affects the epiphysis (the end) of long bones in children. Early diagnosis and treatment are necessary to prevent joint dysfunction and deformity and may be surgical or non-surgical depending on the location and the symptoms. Due to the progressive nature of this disorder and the chance of worsening deformity, patients should be followed until skeletal maturity. The cause of dysplasia epiphysealis hemimelica is not known.


recombinase activating gene 1 deficiency

A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.


odonto-onycho-dermal dysplasia

A form of ectodermal dysplasia characterized by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair.


benign neoplasm of prostate

A benign neoplasm that involves the prostate gland.


epidermolysis bullosa simplex 5C, with pyloric atresia

A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia.


epidermolysis bullosa simplex 2C, localized


leukoplakia

A white patch or plaque on a mucous membrane that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition.


Quebec platelet disorder

Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds.


mixed neoplasm

A neoplasm composed of at least two distinct cellular populations.


sleep disorder, initiating and maintaining sleep


developmental and epileptic encephalopathy, 24

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the HCN1 gene.


FADD-related immunodeficiency

A rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the FADD gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance.


Brugada syndrome 3

Any Brugada syndrome in which the cause of the disease is a mutation in the CACNA1C gene.


trichostrongyloidiasis

Infection by roundworms of the superfamily trichostrongyloidea, including the genera trichostrongylus; ostertagia; Cooperia, haemonchus; Nematodirus, Hyostrongylus, and dictyocaulus.


neonatal-onset severe multisystemic autoinflammatory disease with increased IL18


deafness-infertility syndrome

Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.


cerebral creatine deficiency syndrome

Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency.


undifferentiated pleomorphic sarcoma, inflammatory variant

An undifferentiated pleomorphic sarcoma characterized by the presence of numerous inflammatory cells.


Revesz syndrome

Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.


FNIP1-associated syndrome

Any immunodeficiency in which the cause of the disease is a mutation in the FNIP1 gene. Disruption of Folliculin Interacting Protein 1 alters the essential metabolic regulators AMPK and mTOR, resulting in profound B-cell deficiency, hypertrophic cardiomyopathy, and pre-excitation syndrome.


hypotrichosis 7

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


CANOMAD syndrome

CANOMAD syndrome (Chronic Ataxic Neuropathy, Ophthalmoplegia, Monoclonal IgM protein, cold Agglutinins and Disialosyl antibodies) is a rare chronic immune-mediated demyelinating polyneuropathy.


lymphoproliferative syndrome 2

Any lymphoproliferative syndrome in which the cause of the disease is a mutation in the CD27 gene.


familial abdominal aortic aneurysm

An instance of abdominal aortic aneurysm that is caused by an inherited modification of the individual's genome.


chromosome 19 disorder

Chromosomal disorder in which chromosome 19 is affected.


Mills syndrome

A rare, acquired motor neuron disease characterized by a slowly progressive, unilateral, ascending or descending hemplegia, associated to unilateral or asymmetrical pyramidal signs and no sensory loss. It is a diagnosis of exclusion and contorversy exists regarding whether the presence of bulbar symptoms, sphincter disturbances, fasciculations or cognitive manifestations characterize the disease.


hypomyelinating leukodystrophy 6

A leukodystrophy characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.


calpain-3-related limb-girdle muscular dystrophy D4


palmoplantar keratoderma, nonepidermolytic, focal 1

Any nonepidermolytic palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT16 gene.


hereditary spastic paraplegia 15

Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding.


Charcot-Marie-Tooth disease, demyelinating, type 1G

A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs.


titinopathy with congenital contractures

A prenatal/infant-onset muscle disorder characterized by limb contractures, muscle weakness (often with significant axial involvement), long bone fractures, and/or cardiac abnormalities.


Langerhans cell histiocytosis specific to childhood

Langerhans cell histiocytosis that occurs during childhood.


infantile-onset generalized dyskinesia with orofacial involvement


iliac vein thrombophlebitis

A thrombophlebitis that involves the iliac vein.


hereditary spastic paraplegia 5A

Autosomal recessive spastic paraplegia type 5A (SPG5A) is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients.


familial temporal lobe epilepsy 2

A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has material basis in variation in the chromosome region 12q22-q23.3.


bilateral renal agenesis

Bilateral renal agenesis is the most profound form of renal agenesis, characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.


hereditary skin disorder

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


spondyloperipheral dysplasia

A condition caused by by truncating mutations in the C-propeptide of COL2A1. Like other type II collagen disorders it is characterized by short stature, platyspondyly and epiphyseal dysplasia. A distinguishing feature is the presence of brachydactyly with a prominent first toe.


non-neoplastic nevus

A abnormal, congenital formation or mark on the skin or neighboring mucosa that does not show neoplastic growth.


urinary schistosomiasis

A bladder infection that occurs as a manifetation of a systemic infection with one or more species of the parasitic worms of the Schistosoma type; this can progress to bladder cancer in time.


EWSR1-negative small round cell tumor

A small cell sarcoma that is characterized by the absence of EWSR1 rearrangement and the presence of small round malignant cells with a small amount of cytoplasm.


Echovirus infectious disease

Infectious disease processes, including meningitis, diarrhea, and respiratory disorders, caused by echoviruses.


atrophic muscular disease

A group of primary or secondary disorders affecting the muscles. It is characterized by an abnormal reduction in the muscle volume and atrophy. The atrophy may be caused by diseases of the muscle tissues or diseases of the peripheral nerves.


leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy


neonatal jaundice due to ABO incompatibility

Jaundice that appears during the neonatal period due to high levels of unconjugated bilirubin that are a result of maternal-fetal ABO incompatibility.


neurological pain disorder

A nervous system disorder that has pain as a major feature.


relapsed/refractory diffuse large B-cell lymphoma

A diffuse large B-cell lymphoma characterized by less than 50 percent decrease in lesion size with induction therapy or the appearance of new lesions or the appearance of new lesions after attainment of complete remission.


benign neoplasm of minor salivary gland

A benign neoplasm that involves the minor salivary gland.


pulmonary vein leiomyosarcoma

An aggressive malignant smooth muscle neoplasm, arising from the pulmonary vein. It is characterized by a proliferation of neoplastic spindle cells.


8q12 microduplication syndrome

The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly.


dystonia 28, childhood-onset

Any dystonic disorder in which the cause of the disease is a mutation in the KMT2B gene.


nystagmus, congenital, autosomal recessive


chromosome 5 disorder

Chromosomal disorder in which chromosome 5 is affected.


X-linked congenital stationary night blindness (XLCSNB) is a disorder of the retina. People with this condition typically experience night blindness and other vision problems, including loss of sharpness (reduced visual acuity), severe nearsightedness (myopia), nystagmus,and strabismus. Color vision is typically not affected. These vision problems are usually evident at birth, but tend to be stable (stationary) over time. There aretwo major types of XLCSNB: the complete form and the incomplete form. Bothtypes have very similar signs and symptoms. However, everyone with the complete form has night blindness, while not all people with the incomplete form have night blindness. The types are distinguished by their genetic cause.


anismus

A focal dystonia of the pelvic floor muscles during attempted defecation.


brachydactyly type A1C

Any brachydactyly type A1 in which the cause of the disease is a mutation in the GDF5 gene.


intellectual disability, autosomal recessive 3

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CC2D1A gene.


furuncular myiasis due to Cordylobia rodhaini


rheumatic congestive heart failure

Heart failure secondary to rheumatic fever.


acute myeloid leukemia with t(8;21)(q22;q22) translocation


age related macular degeneration 8

Any age-related macular degeneration in which the cause of the disease is a mutation in the ARMS2 gene.


autosomal recessive nonsyndromic hearing loss 62

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 12p13.2-p11.23.


complete septate uterus

Complete septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which elongates from the uterine fundus to the internal or external cervical os. Most often women are asymptomatic, however dysmenorrhoea, unilateral obstruction, and endometriosis could be observed. Unlike urinary tract abnormalities, which are very rarely associated, poor reproductive outcome is frequent.


suppurative uveitis

Intraocular infection caused mainly by pus-producing bacteria and rarely by fungi. The infection may be caused by an injury or surgical wound (exogenous) or by endogenous septic emboli in such diseases as bacterial endocarditis or meningococcemia.


neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies


lamellar ichthyosis

A keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma.


SLC6A3-related dopamine transporter deficiency syndrome

A complex movement disorder characterized by tremor, rigidity, bradykinesia, chorea, reduced facial expression, and Parkinsonism-dystonia. This disease is caused by loss of function variants in the SLC6A3 gene, which impair the dopamine transporter protein. The onset of this disease ranges from infancy to adulthood.


hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI.


acrodermatitis chronica atrophicans

An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis.


X-linked reticulate pigmentary disorder

X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature.


autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation is a rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms.


cardiac anomalies-heterotaxy syndrome

Cardiac anomalies-heterotaxy syndrome is characterized by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported.


idiopathic CD4 lymphocytopenia

A rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/B5L on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed.


deficiency of coenzyme q cytochrome c reductase


thalassemia minor

The inheritance of only one mutated beta-globin allele (beta+ or beta0).


gestational diabetes insipidus

A form of diabetes insipidus that manifests during pregnancy (or in some cases, after pregnancy). It is characterized by theappearance of a polyuric-polydipsic syndrome that resultsin fluid intake ranging from 3 to 20 L/day. It is also charac-terized by excretion of abnormally high volumes of dilutedurine. This polyuria is insipid, i.e., the urine concentrationof dissolved substances is very low.


preeclampsia/eclampsia 5

Any preeclampsia in which the cause of the disease is a mutation in the CORIN gene.


hereditary sensory neuropathy-deafness-dementia syndrome

A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has material basis in heterozygous mutation in the DNMT1 gene on chromosome 19p13.


autosomal dominant hypocalcemia 2

An autosomal dominant hypocalcemia disease that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13.


generalized peeling skin syndrome

Generalized peeling skin syndrome (PSS) is a form of PSS presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form. PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy.


Pasteurella hemorrhagic septicemia

Any of several bacterial diseases, usually caused by pasteurella multocida, marked by the presence of hemorrhagic areas in the subcutaneous tissues, serous membranes, muscles, lymph glands, and throughout the internal organs. The diseases primarily affect animals and rarely humans.


spondylocostal dysostosis 1, autosomal recessive


seizures, benign familial neonatal, 2

Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ3 gene.


autosomal recessive nonsyndromic hearing loss 7

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene.


progeroid syndrome

A group of rare genetic disorders which mimic physiological aging, making affected individuals appear to be older than they are.


microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome


giant axonal neuropathy

A rare inherited disorder affecting the neurofilaments. It is caused by mutations in the GAN gene. It is characterized by the presence of abnormally large nerve cell axons. Signs and symptoms include difficulty walking, sensory disturbances, lack of motor coordination and abnormal reflexes in the limbs.


Charcot-Marie-Tooth disease type 1A

Charcot-Marie-Tooth disease type 1A (CMT1A) is a type ofinherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused byhaving an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy ; occupational therapy ; braces and other orthopedic devices; orthopedic surgery;and pain medications.


alopecia - contractures - dwarfism - intellectual disability syndrome

Alopecia-contractures-dwarfism-intellectual disability syndrome (ACD syndrome) is a form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome.


rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies


dysspondyloenchondromatosis

Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry.


autosomal recessive congenital ichthyosis 5

An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has material basis in homozygous mutation in the CYP4F22 gene on chromosome 19p13.


neurometabolic disorder due to serine deficiency

Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency.


atypical lichen myxedematosus

Atypical lichen myxedematosus is an intermediate form of lichen myxedematosus (LM) (a form of mucin dermal deposit) which does not meet the criteria for either scleromyxedema or the localized form. Three clinical subtypes have been described and include scleromyxedema without monoclonal gammopathy; localized forms with monoclonal gammopathy and/or systemic symptoms; localized forms with mixed features of the 5 subtypes of localized LM (discrete form, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and a pure nodular form). The course of atypical LM is unpredictable because only a few cases have been reported.


brachydactyly type A1D

Any brachydactyly type A1 in which the cause of the disease is a mutation in the BMPR1B gene.


odontomicronychial dysplasia

Odontomicronychial dysplasia is a rare, hereditary ectodermal dysplasia syndrome characterized by involvement of teeth and nails - precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails.


X-linked intellectual disability, Cilliers type

X-linked intellectual deficit, Cilliers type is characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears).


autosomal dominant distal renal tubular acidosis

Autosomal dominant distal renal tubular acidosis (AD dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia.


enamel caries

A dental caries that involves the enamel.


Brugada syndrome 9

Any Brugada syndrome in which the cause of the disease is a mutation in the KCND3 gene.


vulvar liposarcoma

A rare malignant adipose tissue neoplasm of the vulva.


generalized epilepsy with febrile seizures plus, type 1


papillary urothelial hyperplasia

A type of hyperplasia that is characterized by variable thickening of the urinary tract epithelium and a slight papillary growth. The latter is not associated with the presence of fibrovascular cores. There is no evidence of atypia. The relationship between this lesion and papillary urothelial neoplasia is not clear. -- 2003


orthostatic hypotension 1

A very rare primary monoamine neurotransmitter synthesis disorder with norepinephrine and adrenaline deficiency that leads to young-onset severe orthostatic hypotension and eyelid ptosis.


combined oxidative phosphorylation defect type 7

Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life.


glycogen storage disease due to phosphoglycerate kinase 1 deficiency

Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities.


neoplastic disease or syndrome

Either an isolated neoplasm or a syndrome with neoplasm as a major feature.


acute myeloid leukemia, inv(16)(p13.3;q24.3)

Any acute myeloid leukemia that has the chromosomal anomaly inv(16)(p13.3;q24.3). (A pericentric chromosomal inversion that involves chromosome 16. It is associated with CBFA2T3/GLIS2 fusions and pediatric acute megakaryoblastic leukemia.)


A rare glomerular disease characterized by a pattern of glomerular injury on kidney biopsy with characteristic light microscopic changes: mesangial hypercellularity, endocapillary proliferation, and thickening of the glomerular basement membrane (GBM). On the basis of immunofluorescence (IF) the disorder is divided into C3 glomerulopathy (C3G) or immunoglobulin-mediated membranoproliferative glomerulonephritis. Through electron microscopy C3G is further divided into Dense deposit disease, with highly electrondense deposits in the glomerular basement membrane, and C3 glomerulonephritis, with mesangial, intramembranous, subendothelial and subepithelial deposits. Secondary causes (autoimmune, infectious, malignancies) are excluded.


malignant olfactory nerve neoplasm

A primary or metastatic malignant neoplasm affecting the olfactory nerve.


acute myeloid leukemia and myelodysplastic syndromes related to radiation

Acute myeloid leukemia and myelodysplastic syndromes related to radiation represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with radiation. 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. Patients frequently present with multilineage dysplasia and cytopenias 5-10 years after exposure.


qualitative or quantitative defects of selenoprotein N1


ghosal hematodiaphyseal dysplasia

Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia.


blepharophimosis - intellectual disability syndrome, SBBYS type

Blepharophimosis-intellectual disability syndrome, SBBYS type is characterized by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested.


platelet-type bleeding disorder 18

Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported.


DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome


intellectual developmental disorder, autosomal recessive 76


leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome

This disease is characterized by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.


TPM3-related myopathy

TPM3-related myopathy is a disorder of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle γ-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, motor delay, myopathic facies, scoliosis, and sometimes respiratory involvement. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, fiber-type disproportion, and dystrophic features even in patients with the same mutation.


progressive nodular histiocytosis

Progressive nodular histiocytosis is a rare, normolipemic, non-Langerhans cell histiocytosis characterized by progressive growth of multiple to disseminated, asymptomatic skin lesions that range in appearance from yellow plaques to coalescence-prone red-brown papules, nodules and pedunculated tumors up to 5 cm in size, located typically on the face, trunk and extremities (and rarely on conjuctiva and mucous membranes). Characteristic microscopic findings include a storiform spindle cell infiltrate in the deep dermis with xanthomatized macrophages and some Touton cells in the upper dermis. It is usually not associated with systemic disease.


neonatal/infantile epilepsy syndrome

An epilepsy sydrome that has an onset during the neonatal or infantile stage of life.


uvea neoplasm

A neoplasm (disease) that involves the uvea.


hydrocephalus, nonsyndromic, autosomal recessive 2

Any congenital hydrocephalus in which the cause of the disease is a mutation in the MPDZ gene.


juvenile dermatitis herpetiformis

Dermatitis herpetiformis in children


microcephaly 1, primary, autosomal recessive

Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the MCPH1 gene.


arthrogryposis

A rare, non-progressive congenital disorder characterized by multiple joint contractures which are present at birth.


neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities


low grade fibromyxoid sarcoma with giant collagen rosettes

A low grade fibromyxoid sarcoma characterized by the presence of prominent collagen rosettes.


Liddle syndrome 2

Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1G gene.


giant axonal neuropathy 1

Giant axonal neuropathy (GAN) is a degenerative disorder that is characterized by a progressive motor and sensitive peripheral and central nervous system neuropathy.


coxopodopatellar syndrome

Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis.


muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15


Leber congenital amaurosis 2

Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPE65 gene.


childhood cerebellar neoplasm

A neoplasm that affects the cerebellum and occurs during childhood.


hereditary neutrophilia

A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has material basis in heterozygous mutation in the CSF3R gene on chromosome 1p34.


neurodevelopmental disorder with spasticity and poor growth


branched-chain keto acid dehydrogenase kinase deficiency

A rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids.


neurological muscular channelopathy due to a genetic sodium channel defect


bone marrow cancer

Malignant neoplasms that either originate from the bone marrow (e.g. myeloid leukemias) or involve the bone marrow as secondary-metastatic tumors (e.g. metastatic carcinomas to the bone marrow). --2003


non-psychogenic polydipsia

A form of primary polydipsia not caused by underlying psychiatric symptoms.


silver-Russell syndrome due to 11p15 microduplication


chromosome 8 disorder

Chromosomal disorder in which chromosome 8 is affected.


Frank-Ter Haar syndrome

A syndrome defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.


sensory system cancer

A malignant neoplasm involving the sensory system


X-linked immunoneurologic disorder

X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males.


acute sensory ataxic neuropathy

Acute sensory ataxic neuropathy is a rare variant of Guillain-Barré syndrome characterized by acute onset monophasic sensory neuropathy with diminished or absent tendon reflexes, loss of proprioception, positive Romberg sign and nerve conduction features of demyelination. It presents several weeks after acute infection with paresthesias, ataxia and neuropathic pain.


chromosome 15 disorder

Chromosomal disorder in which chromosome 15 is affected.


combined oxidative phosphorylation deficiency 41


X-linked severe syndromic thoracic aortic aneurysm and dissection


autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome


isolated microphthalmia 1

A microphthalmia that has material basis in variation in the chromosomal region 14q32.


mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition


idiopathic torsion dystonia

Torsion dystonia for which no underlying cause has been identified.


combined immunodeficiency due to MALT1 deficiency

Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections.


PLIN1-related familial partial lipodystrophy


acinar dysplasia caused by mutation in FGF10

Any acinar dysplasia in which the cause of the disease is a mutation in the FGF10 gene.


macular dystrophy with central cone involvement


congenital stationary night blindness 1F

Any congenital stationary night blindness in which the cause of the disease is a mutation in the LRIT3 gene.


EPHB4-associated vascular malformation spectrum

Any vascular malformation in which the cause of the disease is a variation in the EPHB4 gene.


cone-rod dystrophy 16

Any cone-rod dystrophy in which the cause of the disease is a mutation in the C8orf37 gene.


autosomal dominant ichthyosis vulgaris

Ichthyosis vulgaris is a common skin disorder passed down through families that leads to dry, scaly skin. It often begins in early childhood. Treatment may include heavy duty moisturizers which contain chemicals that help the skin to shed normally, including lactic acid, salicylic acid, and urea. Ichthyosis vulgaris can be a nuisance, but it rarely affects overall health. The condition usually disappears during adulthood, but may return in later years. This condition is inherited in an autosomal dominant pattern.


male infertility due to acephalic spermatozoa


retinitis pigmentosa 74

Any retinitis pigmentosa in which the cause of the disease is a mutation in the BBS2 gene.


congenital disorder of glycosylation, type IIb


Bardet-Biedl syndrome 12

Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS12 gene.


chromosome 1 disorder

Chromosomal disorder in which chromosome 1 is affected.


pseudohermaphroditism

A condition consisting of possessing the internal reproductive organs of one sex while exhibiting some of the secondary sex characteristics of the opposite sex.


symptomatic form of hemophilia B in female carriers

A form of hemophilia B (see this term) that manifests in some women with mutations in the F9 gene (Xq28), encoding coagulation factor IX.


cataract 34 multiple types

Any cataract (disease) in which the cause of the disease is a mutation in the FOXE3 gene.


benign neoplasm of neck

A benign neoplasm that involves the neck.


autoimmune lymphoproliferative syndrome type 4

RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia.


relapsing polychondritis

A rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage with joint, ocular and cardiovascular involvement.


integumentary system disorder

A disease involving the integumental system.


moderate heart failure

Heart failure characterized by marked limitation in activity due to symptoms, even during less-than-ordinary activity, e.g. walking short distances (20b100 m). Patients with moderate heart failure are comfortable only at rest.


hyper-IgE recurrent infection syndrome 1, autosomal dominant

A condition of decreased or absent presence or activity of signal transducer and activator of transcription 3 protein. Deficiency of this protein is associated with hyper-IgE syndrome.


male urethral cancer

A cancer involving a male urethra.


odontohypophosphatasia

Odontohypophosphatasia (odonto-HPP) is the least severe form of hypophosphatasia characterized by premature exfoliation of primary and/or permanent teeth and/or severe dental caries, in the absence of skeletal system abnormalities.


acute myeloid leukemia, t(3;3)(q21.3;q26.2)

Any acute myeloid leukemia that has the chromosomal anomaly t(3;3)(q21.3;q26.2). (A cytogenetic abnormality that refers to the translocation where both breakpoints are on the long arm (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.)


partial deletion of the long arm of chromosome 6

Chromosome 6q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 6q deletion include developmental delay, intellectual disability, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.


RPE65-related dominant retinopathy

A retinopathy caused by a heterozygous gain of function variant in the RPE65 gene.


blepharocheilodontic syndrome 1

Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CDH1 gene.


complex cortical dysplasia with other brain malformations 7

Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2B gene.


Cowden syndrome 2

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


familial vesicoureteral reflux

Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible.


NMNAT1-related retinopathy

A retinopathy, typically severe and early onset, caused by biallelic variants in the NMNAT1 gene. Some patients have been reported to have spondyloepiphyseal dysplasia syndrome, including sensorineural hearing loss, intellectual disability in addition to retinopathy. However, additional studies are needed to definitively describe this disease association.


mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6


neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia


intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities

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


camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia

Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome is an extremely rare chondrodysplastic malformation syndrome that is characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly (hammertoes) and scoliosis. A mild facial dysmorphism including a broad nose and flaring nostrils, and a mild intellectual disability were also noted. Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome has been described once in 3 siblings and is suspected to follow autosomal recessive transmission. There have been no further descriptions in the literature since 1972.


lissencephaly with cerebellar hypoplasia type B

Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb.


malignant Sertoli-Leydig cell tumor

A malignant form of Sertoli-leydig cell tumor.


autosomal dominant nonsyndromic hearing loss 9

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


Canavan disease

A neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay.


acute opioid poisoning

Acute opioid poisoning is a rare intoxication with opioids, a large group of alkaloid analgesics, mainly characterized by miosis (pinpoint pupil), respiratory depression (bradypnea/apnea) and central nervous system depression (sedation or coma). Other manifestations include hypotension, reduced bowel motility, hypothermia and hypoglycemia. Naloxone, a competitive inhibitor of the mu-opioid receptor, is a potent antagonist and is used as the antidote for opioid intoxication.


Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the CCND2 gene.


frontotemporal dementia and/or amyotrophic lateral sclerosis 1

Any frontotemporal dementia with motor neuron disease in which the cause of the disease is a mutation in the C9orf72 gene.


bipolar II disorder

A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes.


spermatic cord cancer

A malignant neoplasm involving the spermatic cord.


idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy


pseudohypoaldosteronism type 2C

Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK1 gene.


sphenocavernous meningioma

A meningioma that affects the sphenocavernous region.


Senior-Loken syndrome 6

Any Senior-Loken syndrome in which the cause of the disease is a mutation in the CEP290 gene.


acute myeloid leukemia, MLL gene rearrangement

Any acute myeloid leukemia that has the chromosomal anomaly MLL gene rearrangement. (A molecular abnormality indicating rearrangement of the MLL (KMT2A) gene.)


typhoidal tularemia

A tularemia that results in bacteremia and has symptom fever, has symptom chills, has symptom myalgia, has symptom malaise, and has symptom weight loss.


acquired aneurysmal subarachnoid hemorrhage

Acquired aneurysmal subarachnoid hemorrhage is a serious, life threatening rare neurologic disease characterized by a sudden rupture of an intracranial aneurysm into the subarachnoid space. It usually presents with a sudden, severe, excruciating headache accompanied by nausea, vomiting and syncope. Other features may include focal neurological signs, third and sixth nerve palsies, seizures and cardiac failure. Early complications include rebleeding, hydrocephalus, and seizures.


antibody mediated epilepsy

An immune epilepsy where the underlying cause is antibody mediated.


pachyonychia congenita 1

Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT16 gene.


atrial fibrillation, familial, 7

Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNA5 gene.


maternally-inherited Leigh syndrome

Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA.


Fontaine progeroid syndrome

A rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.


micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome


allescheriosis

A primary systemic mycosis that results in systemic fungal infection, has material basis in Pseudallescheria boydii, which results in formation of abscesses.


atypical juvenile parkinsonism

Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms.


mitochondrial complex V (ATP synthase) deficiency, nuclear type 1

Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATPAF2 gene.


mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A


benign idiopathic neonatal seizures

A rare neonatal epilepsy syndrome characterized by seizures without specific underlying etiology, occurring during the first days of life in infants with an otherwise normal neurological state and no family history of neonatal convulsions. The most commonly partial and clonic seizures usually last for one to three minutes. Repeated seizures may lead to status epilepticus lasting up to 20 hours. Overall, remission rates are high and neurological outcome is favorable.


otodental syndrome

Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss.


benign paroxysmal tonic upgaze of childhood with ataxia

Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset.


multifocal pattern dystrophy simulating fundus flavimaculatus

Multifocal pattern dystrophy simulating fundus flavimaculatus is a patterned dystrophy of the retinal pigment epithelium characterized by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease, and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age.


precancerous condition

A pathological process with signs indicating it may become cancerous. Representative examples include leukoplakia, dysplastic nevus, actinic keratosis, xeroderma pigmentosum, and intraepithelial neoplasia.


ribose-5-P isomerase deficiency

Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy.


type II complement component 8 deficiency

Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8B gene.


Charcot-Marie-Tooth disease axonal type 2H

Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement.


Desbuquois dysplasia 2

Any Desbuquois dysplasia in which the cause of the disease is a mutation in the XYLT1 gene.


hypomyelinating leukodystrophy 10

Any leukodystrophy in which the cause of the disease is a mutation in the PYCR2 gene.


neurodevelopmental disorder with spasticity, seizures, and brain abnormalities


trichomonal vulvovaginitis

An vulvovaginitis caused by infection with Trichomonas vaginalis.


stromal keratitis

Herpes simplex (HSV) stromal keratitis is an infectious ocular disease of either necrotizing or non-necrotizing form, due to an HSV infection, and characterized by corneal stromal necrosis, inflammation, ulceration and infiltration by leukocytes. Corneal perforation and blindness can also occur in severe cases.


aneurysm or dilatation of ascending aorta


ravine syndrome

Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies.


combined immunodeficiency with faciooculoskeletal anomalies

Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).


blood platelet disease

Disorders caused by abnormalities in platelet count or function.


aleutian mink disease

A slow progressive disease of mink caused by the aleutian mink disease virus. It is characterized by poor reproduction, weight loss, autoimmunity, hypergammaglobulinemia, increased susceptibility to bacterial infections, and death from renal failure. The disease occurs in all color types, but mink which are homozygous recessive for the Aleutian gene for light coat color are particularly susceptible.


late-onset familial hypoaldosteronism

A rare form of familial hypoaldosteronism characterized by adult onset of subnormal plasma aldosterone with elevated plasma renin activity, hyperkalemia, metabolic acidosis, and hypotension. Signs and symptoms are typically mild, and affected individuals may be clinically asymptomatic and diagnosed only after biochemical screening.


paraurethral gland cancer

A malignant neoplasm involving the paraurethral gland.


diffuse lipomatosis

A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue. It has been associated with several genetic disorders and different clinical conditions such as liver disease, excessive alcohol intake, adrenocortical steroid therapy, and antiretroviral therapy.


ventricular fibrillation, paroxysmal familial, type 1


spondylocostal dysostosis 3, autosomal recessive

Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the LFNG gene.


West Nile fever

A mosquito-borne viral illness caused by the west nile virus, a flavivirus and endemic to regions of Africa, Asia, and Europe. Common clinical features include headache; fever; maculopapular rash; gastrointestinal symptoms; and lymphadenopathy. meningitis; encephalitis; and myelitis may also occur. The disease may occasionally be fatal or leave survivors with residual neurologic deficits. (From Joynt, Clinical Neurology, 1996, Ch26, p13; Lancet 1998 Sep 5;352(9130):767-71)


hyper-IgE recurrent infection syndrome 4, autosomal recessive


chondrodysplasia Blomstrand type

Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality.


multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome


mitochondrial complex 1 deficiency, nuclear type 12


age related macular degeneration 2

An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22.


acral dystrophic epidermolysis bullosa

Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blistering confined primarily to the hands and feet.


iminoglycinuria

A metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is identified fortuitously by detection of increased levels of the imino acids and glycine in the urine. It is transmitted as an autosomal recessive trait.


bronchial endocrine tumor

A neuroendocrine neoplasm that involves the bronchus.


tetrasomy

A chromosomal disorder consisting of the presence of two chromosomes of the same type in addition to the normal diploid number.


exostoses, multiple, type 2

This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes.


intracranial meningioma

A meningioma that arises within the cranial cavity.


intellectual disability, autosomal recessive 61

An autosomal recessive non-syndromic intellectual disability that has material basis in an autosomal recessive mutation of the RUSC2 gene on chromosome 9p13.


partial trisomy/tetrasomy of chromosome 9


achromatopsia 3

Any achromatopsia in which the cause of the disease is a mutation in the CNGB3 gene.


severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome


familial partial lipodystrophy

Familial partial lipodystrophy (FPLD) is a group of rare genetic lipodystrophic syndromes characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis.


pili gemini

Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair.


hemangioendothelioma

A vascular proliferation characterized by the presence of prominent endothelial cells and the formation of vascular channels. Hemangioendotheliomas may display borderline or low grade characteristics.


geleophysic dysplasia

Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy'').


acquired factor XI deficiency

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


Charcot-Marie-Tooth disease type 1E

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


spondyloepimetaphyseal dysplasia, matrilin-3 type

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


Rasmussen subacute encephalitis

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


childhood choroid plexus neoplasm

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


chemotherapy-induced hypertension

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


TELO2-related intellectual disability-neurodevelopmental disorder


skull base meningioma

A meningioma that arises from the skull base.


intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome

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


mosaic trisomy 4

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


primary organ-specific lymphoma

A header term comprising lymphomas classified based on anatomic location.


Nidovirales infectious disease

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


epithelioid cell nevus

A nevus characterized by the presence of large epithelioid melanocytes.


transposition of the great arteries, dextro-looped

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


kuru

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


xeroderma pigmentosum group D

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


immunodeficiency 92

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


chronic frontal sinusitis

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


chromosome 1q21.1 duplication syndrome

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


benign neoplasm of iris

A benign neoplasm that involves the iris.


sensorineural hearing loss-early graying-essential tremor syndrome

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


RPGR-related retinopathy

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


STT3A-congenital disorder of glycosylation

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


congenital patent ductus arteriosus aneurysm

Congenital patent ductus arteriosus aneurysm is a rare, congenital, arterial duct anomaly characterized by a saccular dilatation of the ductus arteriosus. It is often asymptomatic or presents shortly after birth with respiratory distress, stridor, cyanosis and/or weak cry. Complications, such as rupture, thromboembolism, infection, airway erosion and/or compression of the adjacent thoracic structures, can develop. Spontaneous resolution has been reported.


hereditary angioedema type 2

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


Charcot-Marie-Tooth disease recessive intermediate C

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


metagonimiasis

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


epidermolysis bullosa simplex

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


autosomal recessive nonsyndromic hearing loss 29

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


benign neoplasm of penis

A benign neoplasm that involves the penis.


inborn disorder of the gamma-glutamyl cycle


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


mitochondrial complex III deficiency nuclear type 5

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


agammaglobulinemia 7, autosomal recessive

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


disorder of GPI anchor biosynthesis

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


mitochondrial complex 1 deficiency, nuclear type 33


focal epithelial hyperplasia

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


ataxia - deafness - intellectual disability syndrome

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


rapidly progressive primary central nervous system vasculitis

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


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


trachea sarcoma

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


juvenile myoclonic epilepsy

Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases).


retinal melanoma

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


dyskeratosis congenita, autosomal recessive 2

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


c11orf73-related autosomal recessive hypomyelinating leukodystrophy


acquired epidermolysis bullosa

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


hypomyelinating leukodystrophy 5

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


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


intellectual disability, autosomal dominant 55, with seizures


mesial temporal lobe epilepsy with hippocampal sclerosis

Mesial temporal lobe epilepsy with hippocampal sclerosis is a rare epilepsy syndrome defined by seizures originating in limbic areas of the mesial temporal lobe, particularly in the hippocampus, amygdala, and in the parahippocampal gyrus and its connections, and hippocampal sclerosis, usually unilateral or assymetric. It is frequently associated with an initial precipitating event, such as febrile seizures, hypoxia, intracranial infection or head trauma, most often occurring in the first five years of life, followed by a latent period without seizures. Typical seizures consist of a characteristic aura that is frequently a rising epigastric sensation associated with emotional disturbances, illusions, and autonomic symptoms (widened pupils, palpitations), progressive impairment of consciousness, oro-alimentary automatisms (lip smacking, chewing, licking, tooth grinding), behavioral arrest, head deviation, dystonic postures, hand and verbal automatisms. Seizures are followed by postictal dysfunction. Initially, seizures are easily controlled with antiepileptic drugs, later they frequently become refractory and associated with progressive behavioral changes and memory deficits.


chromosome 22 disorder

Chromosomal disorder in which chromosome 22 is affected.


heart-hand syndrome type 3

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


transitional meningioma

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