polycystic ovaries-urethral sphincter dysfunction syndrome

Polycystic ovaries-urethral sphincter dysfunction syndrome is characterized by urinary retention and incomplete emptying of the bladder associated with abnormal electromyographic activity. It has been described in 33 women, 14 of whom also had polycystic ovaries.


Perrault syndrome 2

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Any Perrault syndrome in which the cause of the disease is a mutation in the HARS2 gene.


neuromyelitis optica spectrum disorder with anti-MOG antibodies


multiple paragangliomas associated with polycythemia


Charcot-Marie-Tooth disease type 2E

Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.


cor triatriatum sinister

Cor triatriatum sinister (CTS) results when the left atrium is divided into two compartments by a membrane. The membrane can vary in size and shape and may have one or more openings. Severe cases of cor triatriatum sinister usually present in infancy and are often associated with other heart defects. In less severe cases, the diagnosis may not be made until later in life. The specific symptoms depend on the degree to which the membrane obstructs the flow of blood and whether or not there are additional heart defects. Symptoms may range from mild shortness of breath during exercise to signs of heart failure and lung congestion. Some people with CTS may not have symptoms. Treatment varies according to the severity of the symptoms. For symptomatic patients, surgery is generally consideredthe definitive course of therapy.


argyria

Argyria is a rare dermatosis, which can be either localized or systemic, that occurs after prolonged contact and absorption of silver containing compounds over a period of years and that is characterized by irreversible blue-gray to gray-black staining of skin, fingernails and/or mucous membranes, most evident on sun exposed areas of the skin. Silver exposure is usually occupational but may also occur through dental amalgams, the ingestion of colloidal silver, acupuncture needles, orthopedic implants and topical medications (such as silver sulfadiazine).


SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome


congenital heart malformation

A disease that has its basis in the disruption of heart development.


mal de Meleda

Mal de Melada (MdM) is a diffuse palmoplantar keratoderma initially reported from of the Island of Meleda characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgradiens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema.


Erdheim-Chester disease

Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement.


corneal endothelial dystrophy

A corneal dystrophy (disease) that involves the corneal epithelium.


MEGF8-related Carpenter syndrome

Any Carpenter syndrome in which the cause of the disease is a mutation in the MEGF8 gene.


intracranial arteriosclerosis

Vascular diseases characterized by thickening and hardening of the walls of arteries inside the skull. There are three subtypes: (1) atherosclerosis with fatty deposits in the arterial intima; (2) Monckeberg's sclerosis with calcium deposits in the media and (3) arteriolosclerosis involving the small caliber arteries. Clinical signs include headache; confusion; transient blindness (amaurosis fugax); speech impairment; and hemiparesis.


trichosporonosis

Fungal infections caused by trichosporon that may become systemic especially in an immunocompromised host. Clinical manifestations range from superficial cutaneous infections to systemic lesions in multiple organs.


spondyloepiphyseal dysplasia, Reardon type

Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process.


prostate leiomyoma

A benign smooth muscle neoplasm arising from the prostate. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.


familial congenital palsy of trochlear nerve

An instance of fourth cranial nerve palsy that is caused by an inherited modification of the individual's genome.


pituitary hormone deficiency, combined, 1

Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the POU1F1 gene.


microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type

Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities.


neurodevelopmental disorder with hypotonia and dysmorphic facies


palmoplantar keratoderma-esophageal carcinoma syndrome

An inherited condition characterized by palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and esophageal cancer may form after age 20. This condition is caused by a mutation in the RHBDF2 gene and is inherited in an autosomal dominant pattern.


neonatal leukemia

Leukemia that occurs during the neonatal period.


Leber congenital amaurosis

Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.


neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter


distal trisomy 13q

Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (incl. microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported.


acute tricyclic antidepressant poisoning

Acute tricyclic antidepressant (TCA) poisoning is a potentially lethal intoxication that is characterized by life-threatening arrhythmias (sinus tachycardias, premature ventricular contractions, ventricular arrhythmias), anticholinergic toxidrome (mydriasis, dry mucous membrane, tachycardia, hypertension), central nervous system toxicity (lethargy, coma, myoclonic jerks), refractory hypotension, and sudden death.


otospondylomegaepiphyseal dysplasia, autosomal dominant

A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.


peroxisome biogenesis disorder due to PEX26 defect

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX26 gene.


leukemia, acute, X-linked

X-linked form of acute leukemia


granular corneal dystrophy type II

Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment.


Krabbe disease due to saposin A deficiency


Farber lipogranulomatosis

A rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.


adult-onset distal myopathy due to VCP mutation

Adult-onset distal myopathy due to VCP mutation is a rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles.


retinitis pigmentosa 12

Any retinitis pigmentosa in which the cause of the disease is a mutation in the CRB1 gene.


congenital disorder of glycosylation type I

A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor.


secondary trimethylaminuria

A type of trimethylaminuria that occurs as the result of treatment with large doses of dietary precursors of the offending chemical. Symptoms develop when the ability of the liver enzyme (flavin-containing monooxygenase 3) is insufficient to break down (metabolize) the excess trimethylamine.


immunodeficiency 19

Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD3D gene.


North Carolina macular dystrophy

North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination.


postmenopausal osteoporosis

Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency.


9q21.13 microdeletion syndrome

A rare, genetic, intellectual disability malformation syndrome characterized by global developmental delay, intellectual disability, delayed speech and language development, epilepsy, autistic behavior, and moderate facial dysmorphism (including elongated face, narrow forehead, arched eyebrows, horizontal palpebral fissures, hypertelorism, epicanthus, midface flattening, short nose, long and featureless philtrum, thin upper lip, macrostomia, and prominent chin). Additional variable manifestations include microcephaly, hypotonia, hypertrichosis, and strabismus.


fibrosarcomatous osteosarcoma

A conventional osteosarcoma characterized by the presence of spindle shaped cells.


intellectual disability, X-linked syndromic, Turner type

An X-linked syndromic intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant.


Langerhans cell sarcoma

A neoplastic proliferation of Langerhans cells with overtly malignant cytologic features. It can be considered a higher grade variant of Langerhans cell histiocytosis (LCH) and it can present de novo or progress from antecedent LCH. (WHO, 2001)


pigmented spindle cell nevus

A benign, small and slightly elevated brown or black skin lesion with usually well-demarcated borders. It is characterized by the presence of a melanocytic proliferation resulting in the formation of uniform cellular nests. Sometimes the clinical and morphologic features may be difficult to distinguish from melanoma.


pyruvate metabolism disorder

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


congenital pulmonary lymphangiectasia

Congenital pulmonary lymphangiectasia (PL) is a rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation.


Say-Barber-Miller syndrome

Say-Barber-Miller syndrome is characterized by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation.


congenital disorder of glycosylation, type Iw, autosomal dominant


progressive scapulohumeroperoneal distal myopathy


screw worm infectious disease

Infection with larvae of the blow fly Cochliomyia hominivorax (Callitroga americanum), a common cause of disease in livestock in the southern and southwestern U.S.A.


radioulnar synostosis-developmental delay-hypotonia syndrome

Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears).


autosomal anomaly

Chromosomal disorder in which the chromosomal anomaly involves an autosome.


inherited neurodegenerative disorder

An inherited disorder characterized by progressive degeneration and atrophy of the nervous system.


IVIC syndrome

IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss.


respiratory system benign neoplasm

A benign neoplasm that involves the respiratory system.


split hand-foot malformation 2

A split-hand/foot malformation that has material basis in variation in the chromosome region Xq26.


methylcobalamin deficiency type cblE

An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia.


superficial Fibromatosis

A poorly circumscribed, intermediate fibrocytic neoplasm arising from the superficial soft tissues. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern.


neurodevelopmental disorder with seizures and gingival overgrowth


developmental and epileptic encephalopathy, 71


choroidal dystrophy, central areolar, 1

Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene.


succinic semialdehyde dehydrogenase deficiency

Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation.


trochlear nerve disorder

A disease involving the trochlear nerve.


neurotic depression

A term used for any state of depression that is not psychotic.


Plasmodium ovale malaria

An malaria caused by infection with Plasmodium ovale.


ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive


epilepsy, early-onset, vitamin B6-dependent


Morvan syndrome

Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases.


atrial conduction disease

Atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted.


osteosclerotic plasma cell myeloma

A plasma cell neoplasm associated with osteosclerotic and fibrotic changes in the bone trabeculae. Often, the lymph nodes show changes resembling the plasma cell variant of Castleman disease. It is often part of POEMS syndrome which is characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes.


Angelman syndrome due to maternal 15q11q13 deletion


disorder of polyamine metabolism

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


Aicardi-Goutieres syndrome

Aicardi-Goutieres syndrome (AGS) is an inherited, subacute encephalopathy characterized by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis.


congenital myasthenic syndrome 8

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the AGRN gene.


ciliary discoordination due to random ciliary orientation


brucellosis

Brucellosis is a bacterial infection that spreads from animals to people via unpasteurized dairy products or by exposure to contaminated animal products or infected animals. Animals that are most commonly infected include sheep, cattle, goats, pigs, and dogs. Brucellosis can cause of range of signs and symptoms, some of which may persist or recur. Initial symptoms may include fever, sweats, malaise, anorexia, headache, fatigue, and/or pain in the muscles, joints, and/or back. Symptoms that may persist or recur include fevers, arthritis, swelling of the testicle and scrotum, swelling of the heart (endocarditis), neurologic symptoms (in up to 5% of cases), chronic fatigue, depression, and/or swelling of the liver or spleen. People who are in jobs or settings that increase exposure to the bacteria are at increased risk for infection. Antibiotics are used to treat brucellosis. Recovery may take a few weeks to several months, and relapses are common. Death from brucellosis is rare, occurring in no more than 2% of cases.


A neoplasm of immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage. Neoplasms involving the bone marrow and the peripheral blood are called precursor lymphoblastic leukemias or acute lymphoblastic leukemias. Neoplasms involving primarily lymph nodes or extranodal sites are called lymphoblastic lymphomas. -- 2003


Ross river fever

A disease caused by infection with Ross River virus.


aromatase excess syndrome

Aromatase excess syndrome is a rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all.


childhood intracortical osteosarcoma

A high grade malignant bone-forming mesenchymal neoplasm that produces osteoid and occurs in childhood. It arises from the medullary portion of the bone. It affects the long bones, and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis.


mitochondrial complex 2 deficiency, nuclear type 2


hereditary sensory and autonomic neuropathy type 5

Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies.


schizophrenia 12

A schizophrenia that has material basis in a mutation on chromosome 1p36.2.


ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia

A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.


Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994.


progressive familial heart block

A hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death.


malignant ovarian cyst

A cystic cancerous tumor arising from the ovary.


amyotrophic neuralgia

An autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm.


periventricular nodular heterotopia 7

Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the NEDD4L gene.


Charlevoix-Saguenay spastic ataxia

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy.


chromosome 8q21.11 deletion syndrome

Heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies.


Desbuquois dysplasia 1

Any Desbuquois dysplasia in which the cause of the disease is a mutation in the CANT1 gene.


mitochondrial complex 1 deficiency, nuclear type 37


Mitochondrial complex IV deficiency, nuclear type 22


primary antiphospholipid syndrome

An antiphospholipid syndrome that occurs as an isolated disorder.


acromelic frontonasal dysostosis

Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.


omodysplasia

Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs.


acute myeloid leukemia, der12p

Any acute myeloid leukemia that has the chromosomal anomaly der12p. (A cytogenetic abnormality involving the rearrangement of two or more other chromosomes with the short arm of chromosome 12 (12p).)


foix chavany Marie syndrome

Foix-Chavany-Marie syndrome (FCMS) is a cortico-subcortical suprabulbar or pseudobulbar palsy of the lower cranial nerves, characterized by severe dysarthria and dysphagia associated with bilateral central facio-pharyngo-glosso-masticatory paralysis, with prominent automatic-voluntary dissociation in which involuntary movements of the affected muscles are preserved.


TPM4-related platelet disorder

A platelet disorder in which the cause of the disease is a variant in the TPM4 gene.


superficial mycosis

A mycosis that is limited to the stratum corneum and essentially elicits no inflammation.


cardiovirus infectious disease

Infections caused by viruses of the genus cardiovirus, family picornaviridae.


ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type

Any ectodermal dysplasia syndrome in which the cause of the disease is a mutation in the KDF1 gene.


maternally-inherited progressive external ophthalmoplegia


pontocerebellar hypoplasia type 4

Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH, characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death.


tactile agnosia

An agnosia that is a loss of the ability to recognize or identify objects by touch alone.


neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities


tinea favosa

A severe, chronic fungal skin infection, usually of the scalp, characterized by the development of thick, yellow cup-shaped crusts and scarring over hair follicles.


combined oxidative phosphorylation defect type 13

Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive.


acquired angioedema with C1Inh deficiency


amusia

An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals.


Huntington disease

Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.


epilepsy, familial focal, with variable foci 3

Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL3 gene.


premature ovarian failure 8

Any primary ovarian failure in which the cause of the disease is a mutation in the STAG3 gene.


Leber congenital amaurosis 4

Any Leber congenital amaurosis in which the cause of the disease is a mutation in the AIPL1 gene.


intellectual disability, autosomal recessive 47

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FMN2 gene.


syphilitic aortitis

Cardiovascular manifestations of syphilis, an infection of treponema pallidum. In the late stage of syphilis, sometimes 20-30 years after the initial infection, damages are often seen in the blood vessels including the aorta and the aortic valve. Clinical signs include syphilitic aortitis, aortic insufficiency, or aortic aneurysm.


dyskeratosis congenita, autosomal dominant 2

A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERT on chromosome 5p15.33.


distal trisomy 20q

Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (incl. large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported.


butterfly-shaped pigment dystrophy

A patterned dystrophy of the retinal pigment epithelium characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age.


hypoactive sexual desire disorder

A disorder characterized by a recurrent or persistent lack of desire for sexual activity. The lack of sexual desire is not attributable to another psychiatric disorder or to the physiological effects of substance use or a general medical condition.


Senior-Boichis syndrome

Boichis syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child.


neonatal iodine exposure

A rare endocrine disease characterized by the appearance of transient hypothyroidism, usually in preterm newborns, following long or short-term topical iodine exposure. Parenteral exposure from iodinated contrast agents may similarly alter thyroid funtion in term neonates.


platelet-type bleeding disorder 10

Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the CD36 gene.


neurodevelopmental disorder with neuromuscular and skeletal abnormalities


immunodeficiency 94 with autoinflammation and dysmorphic facies


paroxysmal familial ventricular fibrillation

A rare, genetic, cardiac rhythm disease characterized by ventricular fibrillation in the absence of any structural or functional heart disease, or known repolarization abnormalities. The presence of J waves is associated with a higher risk of nocturnal ventricular fibrillation events and a higher risk of recurrence.


NYX-related retinopathy

An X-linked retinopathy caused by variants in the NYX gene.


hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome


dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema


pyrimidine metabolism disease

A disease that has its basis in the disruption of pyrimidine nucleobase metabolic process.


disorder of lysosomal-related organelles


retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

An inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS); all exhibiting progressive visual impairment as well as variable cerebral dysfunction.


aortic arch interruption

Aortic arch interruption is a rare heart defect characterized by complete lack of anatomical continuity between the transverse aortic arch and the descending thoracic aorta. AAI should be distinguished anatomically from atresia of the aortic arch where continuity between these segments is achieved by an imperforate fibrous strand of various lengths.


myostatin-related muscle hypertrophy

Myostatin-related muscle hypertrophy is a rare condition characterized by reduced body fat and increased muscle size. Affected individuals have up to twice the usual amount of muscle mass in their bodies. They also tend to have increased muscle strength. This condition is not known to cause any medical problems, and affected individuals are intellectually normal. Myostatin-related muscle hypertrophy is caused by mutations in the MSTN gene. It follows an incomplete autosomal dominant pattern of inheritance.


autosomal semi-dominant severe lipodystrophic laminopathy


Beemer-Langer syndrome

Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal.


vascular bone neoplasm

A benign, intermediate, or malignant vascular neoplasm that arises from the bone.


congenital disorder of glycosylation, type ICC


anti-HLA hyperimmunization

Anti-HLA hyperimmunization is an increase in anti-HLA antigens mostly seen in chronic renal failure (CRF) patients that have undergone hemodialysis and polytransfusion.


Senior-Loken syndrome 7

Any Senior-Loken syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene.


Charcot-Marie-Tooth disease, dominant intermediate G


myoclonus, familial, 2

Familial cortical myoclonus caused by heterozygous mutation in the SCN8A gene on chromosome 12q13.


pyruvate kinase hyperactivity

Autosomal dominant phenotype characterized by increase of red blood cell ATP.


autosomal dominant nocturnal frontal lobe epilepsy 1

Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA4 gene.


clivus chordoma

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


sporadic amyotrophic lateral sclerosis

Sporadic amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which there is no known cause, such as no family history.


autosomal dominant titinopathy

Autosomal dominant form of TTN-related myopathy.


fibroepithelial polyp

A polypoid lesion composed of fibrous tissue and epithelium. Representative examples include skin tag, anal fibroepithelial polyp, and gingival fibroepithelial polyp.


galactosialidosis

A lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.


autosomal recessive spastic ataxia

Autosomal recessive form of spastic ataxia.


blepharophimosis-ptosis-epicanthus inversus syndrome plus


Murray valley encephalitis

An disease caused by infection with Murray Valley encephalitis virus.


severe combined immunodeficiency due to CARD11 deficiency

Severe combined immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections.


paramedian nasal cleft

Paramedian nasal cleft is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral coloboma of the nose, ranging in severity from a small notch, resulting in minor deviation of the nasal septum, to variable-sized clefts of the nasal ala which may be associated with small cysts or sinuses in the nasal midline. Defect may be isolated or may occur in association with cleft lip and/or other craniofacial anomalies (e.g. hypertelorism, broadening of nasal root, midline cleft). Dorsum and apex of nose are usually well preserved.


EYS-related retinopathy

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


ichthyosis, X-linked, without steroid sulfatase deficiency


fournier gangrene

An acute necrotic infection of the SCROTUM; PENIS; or PERINEUM. It is characterized by scrotum pain and redness with rapid progression to gangrene and sloughing of tissue. Fournier gangrene is usually secondary to perirectal or periurethral infections associated with local trauma, operative procedures, or urinary tract disease.


Alzheimer disease 10

An Alzheimer's disease that is characterized by an associated with variation in the region 7q36.


benign infantile focal epilepsy with midline spikes and wave during sleep

Benign infantile focal epilepsy with midline spikes and waves during sleep is a rare infantile epilepsy syndrome characterized by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralizing signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region.


Woodhouse-Sakati syndrome

Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.


pili bifurcati

Pili bifurcati is an uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle.


peroxisome biogenesis disorder due to PEX14 defect

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX14 gene.


maternal uniparental disomy of chromosome 14

Maternal uniparental disomy of chromosome 14 is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum).


vas deferens, congenital unilateral aplasia of


autosomal recessive limb-girdle muscular dystrophy type 2R1

An autosomal recessive condition caused by pathogenic variant(s) of the POGLUT1 gene, encoding protein O-glucosyltransferase 1. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking. A characteristic finding of “inside-to-outside” fatty degeneration on muscle imaging has been noted in patients.


phakomatosis pigmentokeratotica

Phakomatosis pigmentokeratotica (PPK) is a very rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies.


intellectual disability, X-linked 91

Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZDHHC15 gene.


congenital absence of both forearm and hand, unilateral

Congenital absence of both forearm and hand, unilateral is a rare developmental defect during embryogenesis characterized by a unilateral, transverse absence of the radius and ulna (of varying terminal lengths), as well as all the elements composing the hand. Left or right side may be involved.


spinocerebellar ataxia type 4

Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by ataxia with sensory neuropathy.


Trichomonas tenax infectious disease

An disease or disorder caused by infection with Trichomonas tenax.


ulnar neuropathy

Disease involving the ulnar nerve from its origin in the brachial plexus to its termination in the hand. Clinical manifestations may include paresis or paralysis of wrist flexion, finger flexion, thumb adduction, finger abduction, and finger adduction. Sensation over the medial palm, fifth finger, and ulnar aspect of the ring finger may also be impaired. Common sites of injury include the axilla, cubital tunnel at the elbow, and Guyon's canal at the wrist. (From Joynt, Clinical Neurology, 1995, Ch51 pp43-5)


autosomal recessive cerebellar ataxia-saccadic intrusion syndrome

Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome is a rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances.


glossopharyngeal nerve neoplasm

A neoplasm involving a glossopharyngeal nerve.


pseudohypoaldosteronism type 1

Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration.


X-linked lissencephaly with abnormal genitalia (XLAG) is a severe neurological disorder that only manifests in genotypic males and includes lissencephaly with posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset severe epilepsy, hypothalamic dysfunction including defective temperature regulation, and ambiguous genitalia with micropenis and cryptorchidism. XLAG differs considerably from classical lissencephaly, as the resulting cortical thickness is only 6-7 mm in XLAG, rather than 15-20 mm seen in classical lissencephaly due to mutations of the PAFAH1B1 or DCX genes. In 2002, mutations in the X-linked aristaless-related homeobox gene (ARX ; Xp21.3) were identified in individuals with XLAG and in some of their female relatives. Mouse Arx and human ARX are highly expressed in both dorsal and ventral telencephalon, including the neocortical ventricular zone and germinal zone of the ganglionic eminence, with less intense signals in the subventricular zone, cortical plate, hippocampus, basal ganglia and ventral thalamus. Arx-deficient mice showed deficient tangential migration and abnormal differentiation of GABAergic interneurons in the ganglionic eminence and neocortex, as well as abnormal testicular differentiation. These characteristics include some of the clinical features of XLAG in humans. The ARX mutations in XLAG patients were predominantly premature termination mutations (large deletions, frameshift, nonsense mutations, splice site mutations) while the missense mutations were less common and located essentially in the homeobox domain. Patients carrying nonconservative missense mutations within the homeobox, showed less severe XLAG, while conservative substitution in the homeodomain caused Proud syndrome (ACC with abnormal genitalia). A non conservative missense mutation near the C-terminal aristaless domain caused unusually severe XLAG with microcephaly and mild cerebellar hypoplasia. The ARX mutations are also associated with a spectrum of milder phenotypes, without macroscopic malformations of the brain, such as X-linked infantile spasms, a syndrome featuring mental retardation associated with distal dystonic movements (Partington syndrome), autistic features and nonsyndromicintellectual deficit.


retinitis pigmentosa 56

Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPG2 gene.


immunodeficiency, common variable, 10

Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB2 gene.


Charcot-Marie-Tooth disease axonal type 2O

Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the DYNC1H1 gene.


ring chromosome 2

Ring chromosome 2 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (incl. microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (e.g. kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (i.e. café-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (e.g. genital hypoplasia, phimosis, cryptorchidism).


holoprosencephaly 11

Any holoprosencephaly in which the cause of the disease is a mutation in the CDON gene.


angioid streaks of choroid

A angioid streaks that involves the optic choroid.


tertiary syphilis

A stage of syphilis that occurs fifteen to thirty years after the initial infection; it can include gumma formation and cardiovascular or central nervous system involvement (neurosyphilis).


benign neoplasm of cerebrum

A benign neoplasm that involves the telencephalon.


foramen magnum meningioma

A meningioma that affects the foramen magnum.


Leber hereditary optic neuropathy, autosomal recessive


pregnancy associated osteoporosis

A severe early presentation of osteoporosis in which young women experience low trauma or spontaneous fractures, most commonly vertebral fractures, during late pregnancy or lactation.


peroxisome biogenesis disorder due to PEX5 defect

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX5 gene.


neurodevelopmental disorder with speech impairment and with or without seizures


paroxysmal extreme pain disorder

Paroxysmal extreme pain disorder is a rare disorder of abnormal pain sensation.


systolic heart failure

Heart failure caused by abnormal myocardial contraction during systole leading to defective cardiac emptying.


supraglottis neoplasm

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


acquired metabolic disease

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


rhizomelic chondrodysplasia punctata

Rhizomelic chondrodysplasia is a form chondrodysplasia punctata, a group of diseases in which the common characteristic is calcifications near joints at birth.


ovarian ectopic pregnancy

An abnormal pregnancy in which the conception is implanted on the ovary.


developmental and epileptic encephalopathy, 50

An autosomal recessive form of early infantile epileptic encephalopathy, caused by mutation(s) in the CAD gene, encoding CAD protein.


mitochondrial DNA depletion syndrome 8a

Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the RRM2B gene.


Rotavirus infection

Infection with any of the rotaviruses. Specific infections include human infantile diarrhea, neonatal calf diarrhea, and epidemic diarrhea of infant mice.


neonatal sepsis

Bacterial infection in the bloodstream of newborn infants younger than 28 days old.


oculodentodigital dysplasia

Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities.


familial amyotrophic lateral sclerosis

An instance of amyotrophic lateral sclerosis that is caused by an inherited modification of the individual's genome.


hereditary progressive mucinous histiocytosis

Hereditary progressive mucinous histiocytosis is a rare, benign, non-Langerhans cell histiocytosis characterized by childhood or adolescence onset of multiple, small, asymptomatic, slowly progressing, skin-colored to red-brown papules with predilection for the face, dorsal hands, forearms and legs, without associated mucosal or visceral involvement. Histologically, papules are well-circumscribed, unencapsulated, nodular aggregates of histiocytes with abundant mucin in the upper and middermis.


spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis


taurodontia-absent teeth-sparse hair syndrome

This syndrome is characterized by congenital absence of the teeth, and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families.


urinary bladder tuberculosis

A tuberculosis that involves the urinary bladder.


congenital pseudoarthrosis of the tibia

A condition characterized by non-union of the tibia, which is present at birth. It is usually associated with neurofibromatosis type 1.


lingual goiter

Pathological enlargement of the lingual thyroid, ectopic thyroid tissue at the base of the tongue. It may cause upper airway obstruction; dysphagia; or hypothyroidism symptoms.


Coronaviridae infectious disease

Virus diseases caused by coronaviridae.


primary ciliary dyskinesia 15

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC40 gene.


GATA1-Related X-Linked Cytopenia

X-Linked cytopenia characterized by anemia and/or thrombocytopenia. Additional features including platelet dysfunction, dyserythropoesis, mild beta-thalassemia, neutropenia, or congenital erythropoetic porphyria may be present. These GATA1 variants are germline as opposed to GATA1 variants seen in leukemia.


partial trisomy of the long arm of chromosome 5

Chromosome 5q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 5. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 5q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 5q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person.


fungal keratitis

Keratitis caused by fungi.


Perrault syndrome 4

Any Perrault syndrome in which the cause of the disease is a mutation in the LARS2 gene.


headache disorder

Various conditions with the symptom of headache. Headache disorders are classified into major groups, such as primary headache disorders (based on characteristics of their headache symptoms) and secondary headache disorders (based on their etiologies). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)


xeroderma pigmentosum, type G/Cockayne syndrome


beta thalassemia

Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb).


ABri amyloidosis

A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2.


hereditary epidermal appendage anomaly

An instance of epidermal appendage anomaly that is caused by a modification of the individual's genome.


X-linked intellectual disability-ataxia-apraxia syndrome is characterized by ataxia, apraxia, intellectual deficit and/or seizures. It has been described in nine males in two unrelated Danish families. It is transmitted as an X-linked recessive syndrome with partial clinical expression in obligate female carriers.


juvenile idiopathic inflammatory myopathy


hemophagocytic lymphohistiocytosis due to RhoG deficiency

Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is an autosomal recessive variation in the RHOG gene.


hyperekplexia 1

A hyperekplexia that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32.


mitochondrial complex 1 deficiency, nuclear type 31


onchocerciasis

Onchocerciasis is a form of filariasis, caused by the parasitic worm Onchocerca volvulus, transmitted by the black fly. The infection can either be asymptomatic or manifest as an ocular disease (river blindness) with itchy eyes, erythema, photophobia, onchodermatitis or onchocercal skin disease (classified into acute papular, chronic papular, lichenified, atrophic, and depigmentated) and onchocercomas (over bony prominences). Other classic clinical manifestations are ichthyosis-like lesions (''lizard skin'') and ''hanging groin'', which may be associated with lymphadenopathy.


febrile seizures, familial, 8

A childhood absence epilepsy that is characterized by mutations in the GABRG2 gene, which cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures (FS) to childhood absence epilepsy (CAE) to generalized epilepsy with febrile seizures plus, type 3 (GEFS+3), which tends to represent a more severe phenotype.


mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy


anaplastic cancer

A malignant neoplasm characterized by the presence of poorly differentiated, often large neoplastic cells with bizarre morphologic characteristics, associated with high mitotic activity and necrotic changes.


developmental and epileptic encephalopathy, 34

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC12A5 gene.


leukodystrophy, hypomyelinating, 19, transient infantile


cerebral amyloid angiopathy, APP-related

A cerebral amyloid angiopathy that has material basis in an autosomal dominant mutation of APP on chromosome 21q21.3.


intellectual developmental disorder, autosomal recessive 78


intellectual disability, X-linked 45

Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF81 gene.


familial temporal lobe epilepsy syndrome

This syndrome is identified in an individual who has seizures with temporal lobe features with a family history of similar seizures. Seizures often comprise such mild symptoms that they are undiagnosed. There are no implications expected for development or learning and seizures are typically infrequent and well controlled.


bone angiosarcoma

A high-grade malignant vascular neoplasm that arises from the bone. It is characterized by the presence of neoplastic cells with endothelial differentiation.


vestibulocochlear nerve neoplasm

A neoplasm (disease) that involves the vestibulocochlear nerve.


uterine inversion

A complication of obstetric labor in which the corpus of the uterus is forced completely or partially through the uterine cervix. This can occur during the late stages of labor and is associated with immediate postpartum hemorrhage.


mitochondrial DNA depletion syndrome, encephalomyopathic form

Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.


neuronal ceroid lipofuscinosis 3

A condition associated with mutation(s) in the CLN3 gene, encoding battenin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.


sensory ataxia

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


microcephaly 17, primary, autosomal recessive

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


autosomal dominant hypophosphatemic rickets

Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia.


rhizomelic chondrodysplasia punctata type 1

A condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern. Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. The types have similar features and are distinguished by their genetic cause.


Pediculus humanus capitis infestation

A infectious disease involving Pediculus humanus capitis.


prepuce cancer

A malignant neoplasm involving the prepuce.


torsion dystonia 6

Primary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases.


autosomal recessive nonsyndromic hearing loss 84B

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


developmental and epileptic encephalopathy, 68


sporadic Creutzfeld Jacob disease

Sporadic Creutzfeldt-Jakob disease (sCJD) is the most common type of CJD, accounting for around 85% of cases. The precise cause of sporadic CJD is unclear, but it's been suggested that a normal brain protein changes abnormally ('misfolds') and turns into a prion. Most cases of sporadic CJD occur in adults aged between 45 and 75. On average, symptoms develop at age 60-65 years.


ACys amyloidosis

Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages.


late-adult onset retinitis pigmentosa

A retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life.


non-herpetic acute limbic encephalitis

Non-herpetic acute limbic encephalitis is a rare neuroinflammatory/neuroautoimmune disease characterized by an acute (or subacute) onset of disturbance of consciousness (occasionally presenting as convulsions) and high fever, associated with cerebral lesions (on magnetic resonance imaging) that are restricted to the limbic system (particularly the hippocampi and amygdalae), in the absence of viral, bacterial, fungal, paraneoplastic and other disorders.


porokeratotic eccrine ostial and dermal duct nevus

A rare, congenital disorder of the eccrine sweat ducts that presents as grouped keratotic papules and plaques with a linear distribution and/or multiple punctate pits filled with tiny keratotic plugs resembling comedones. The lesion are usually located on the acral portion of a limb.


Leigh syndrome

A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.


corpus callosum dysgenesis X-linked recessive


immunodeficiency 105

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


Stankiewicz-Isidor syndrome

A neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems.


mitochondrial DNA depletion syndrome 20 (mngie type)


Any mitochondrial complex 1 deficiency, mitochondrial type 1, in which the cause of the disease is a mutation in the MTND3 gene.


neurofibromatosis

A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist.


An embryonal rhabdomyosarcoma located in the parameningeal region.


photosensitive occipital lobe epilepsy

A childhood-onset epilepsy that is characterized by the presence of visually-induced focal occipital lobe seizures. A proportion of patients with this syndrome have developmental delays and learning difficulty.


miliaria crystallina

A miliaria that is characterized by clear, superficial, noninflammed, subcorneal vesicles that easily rupture when rubbed and is located in the stratum corneum.


myoclonic epilepsy in non-progressive encephalopathies

A rare epilepsy syndrome characterized by recurrent, long-lasting myoclonic status in infants and young children with a non-progressive encephalopathy, associated with transient and recurring motor, cognitive and/or behavioral disturbances.


breast implant-associated anaplastic large cell lymphoma


chronic mast cell leukemia

A rare form of mast cell leukemia characterized by the presence of at least 20% mast cells in bone marrow aspirate smears but often mature mast cell morphology, low proliferation rate, and absence of organ damage and C findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption). The disease course is less aggressive than in the acute form, although patients may later progress.


microphthalmia with brain and digit anomalies

Microphthalmia with brain and digit anomalies is characterized by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3

Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the TWNK gene.


distal trisomy 3p

Distal trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers.


cone-rod dystrophy 3

Any cone-rod dystrophy in which the cause of the disease is a mutation in the ABCA4 gene.


lower lip fistula

A cysts and fistulae of the face and oral cavity that involves the lower lip.


Seckel syndrome 10

Any Seckel syndrome in which the cause of the disease is a mutation in the NSMCE2 gene.


cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2

Any CADASIL in which the cause of the disease is a mutation in the HTRA1 gene.


folinic acid-responsive seizures

Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid.


testicular leukemia

A myeloid or more commonly lymphoid leukemia (acute or chronic) affecting the testis. Microscopically, there is interstitial infiltration of the testis by leukemic cells. Acute lymphoblastic leukemia with testicular involvement is not uncommon in boys. Sometimes (up to 10% of the cases), testicular involvement may be the initial manifestation of relapsed acute lymphoblastic leukemia. --03


hypothyroidism, congenital, nongoitrous, 8


inborn disorder of ornithine, proline and hydroxyproline metabolism

A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of ornithine, proline and/or hydroxyproline.


hereditary renal hypouricemia

Hereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced acute renal failure (EIARF).


spondyloepiphyseal dysplasia, Kimberley type

Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy.


cholesteryl ester storage disease

A form of lysosomal acid lipase deficiency characterized by progressive cholesterol esters and triglyceride accumulation in tissues and organs typically presenting with hepatosplenomegaly, liver dysfunction and/or dyslipidemia.


brachial plexus neuritis

An inflammatory process affecting the brachial plexus. It results in severe pain in the upper extremity and shoulder, upper arm weakness and loss of sensation in the upper arm.


univentricular heart with single atrio-ventricular valve


autosomal dominant Robinow syndrome 1

Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the WNT5A gene.


autosomal dominant disease

Autosomal dominant form of disease.


congenital epulis

A congenital gingival tumor that occurs along the alveolar ridge of the maxilla. It usually affects female infants. The histogenesis is unknown. Morphologically, it is characterized by the presence of large cells with eosinophilic granular cytoplasm. Complete surgical resection is curative.


cerebellar ataxia and hypergonadotropic hypogonadism


developmental and epileptic encephalopathy, 26

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNB1 gene.


AREDYLD syndrome

AREDYLD stands for acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes. This syndrome has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait.


autoinflammatory syndrome, familial, X-linked, Behcet-like 2


Young syndrome

Young syndrome is characterized by the association of obstructive azoospermia with recurrent sinobronchial infections.


autosomal recessive spastic paraplegia type 66


supratentorial meningioma

A meningioma that affects the supratentorial brain.


choroidal dystrophy, central areolar 2

Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the PRPH2 gene.


granulomatous mastitis

A rare, benign, inflammatory breast disease occurring in premenopausal women shortly after a recent pregnancy. The origin is unknown but it is commonly mistaken for malignancy and sometimes associated with breast feeding and the use of oral contraceptives.


retinitis pigmentosa 39

Any retinitis pigmentosa in which the cause of the disease is a mutation in the USH2A gene.


congenital disorder of glycosylation, type IIy


West-Nile encephalitis

An acute arboviral infection caused by a virus of the Flaviviridae family transmitted by an infected mosquito, that is asymptomatic in the majority of cases but that can present in rare occasions with mild flulike symptoms such as low-grade fever, arthralgia, myalgia, and/or rash, or with neurologic manifestations including meningitis, encephalitis with mental confusion or disorientation, tremors and acute flaccid paralysis/poliomyelitis.


Japanese encephalitis

A disease due to a virus transmitted by an arthropod).


melanocytic skin neoplasm

A melanocytic neoplasm that involves the zone of skin.


disorder of orbital region

A disease that involves the orbital region.


sialidosis

Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations.


bacterial exanthem

A bacteria-induced exanthem


retinitis pigmentosa 76

Any retinitis pigmentosa in which the cause of the disease is a mutation in the POMGNT1 gene.


pituitary hormone deficiency, combined, 2

Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the PROP1 gene.


mycotoxicosis

Poisoning caused by the ingestion of mycotoxins (toxins of fungal origin).


pyruvate dehydrogenase phosphatase deficiency

Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by lactic acidemia in the neonatal period.


methemoglobinemia type 4

Any methemoglobinemia in which the cause of the disease is a mutation in the CYB5A gene.


beta-ureidopropionase deficiency

Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal).


chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation


congenital cerebellar ataxia due to RNU12 mutation

A rare hereditary ataxia characterized by delayed motor milestones in early infancy, hypotonia, ataxic gait, intention tremor, nystagmus, dysarthric speech, and variable learning difficulties. Neuroimaging shows a mixed picture of cerebellar hypoplasia and degeneration, with an almost absent inferior lobule and thinning of the folia of the vermis. In addition, cisterna magna and fourth ventricle are enlarged with relative sparing of the brain stem volume.


refractory hematologic cancer

A hematologic malignancy that is resistant to treatment.


8p11.2 deletion syndrome

8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.


multifocal osteogenic sarcoma

A primary bone osteosarcoma affecting multiple bone sites.


facial dermoid cyst

Facial dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue, which usually manifests as a firm, nonpulsatile mass, often with a sinus opening or a hair-bearing punctum, most commonly located in the periorbital and nasal area.


trypanosomiasis

Infection with protozoa of the genus trypanosoma.


tooth agenesis, selective, 4

Any tooth agenesis in which the cause of the disease is a mutation in the WNT10A gene.


RLBP1-related retinopathy

A retinopathy caused by bialleleic variants in the RLBP1 gene, often involving flecks in the retina.


von Willebrand disease type 2M

A subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium in the absence of any deficiency of high molecular weight VWF multimers.


rhizomelic chondrodysplasia punctata type 5

Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the PEX5 gene.


barbiturate abuse

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


An electroclinical syndrome with onset in adolescence and adulthood.


autoimmune urticaria

An autoimmune form of urticaria (disease).


aspergillus niger infection

A infectious disease involving the Aspergillus niger.


neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures


mesomelic dwarfism-cleft palate-camptodactyly syndrome

Mesomelic dwarfism-cleft palate-camptodactyly syndrome is characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive.


developmental and epileptic encephalopathy, 74


oculootodental syndrome

Oculootodental syndrome is a contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphtalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy.


malignant Leydig cell tumor

A Leydig cell tumor characterized by large tumor size, the presence of cytologic atypia, increased mitotic activity, necrosis, and vascular invasion. Approximately 10% of the testicular Leydig cell tumors show malignant characteristics and metastasize. Leydig cell tumors of the ovary follow a benign clinical course.


actinic lichen planus

Actinic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of photo-distributed lichenoid lesions.


congenital myasthenic syndrome 15

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the ALG14 gene.


neurodevelopmental disorder with impaired language and ataxia and with or without seizures


inflammatory liposarcoma

A rare morphologic variant of well differentiated liposarcoma occurring most often in the retroperitoneum. It is characterized by the presence of a predominant inflammatory infiltrate composed of lymphoplasmacytic aggregates.


Warburg micro syndrome 4

Any Warburg micro syndrome in which the cause of the disease is a mutation in the TBC1D20 gene.


dentatorubral-pallidoluysian atrophy

Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation.


abdominal tuberculosis

An extrapulmonary tuberculosis that is located in gastrointestinal tract, located in peritoneum, located in omentum, located in mesentery, located in liver, located in spleen or located in pancreas.


hematohidrosis

Hematohidrosis is a rare condition characterized by blood oozing from intact skin and mucosa. Signs and symptoms include sweating blood, crying bloody tears, bleeding from the nose, bleeding from the ears, or oozing bloodfrom other skin surfaces. The episodes are usually self-limiting.


posterior cranial fossa meningioma

A meningioma that affects the posterior cranial fossa.


hereditary sebaceous gland anomaly

An instance of sebaceous gland anomaly that is caused by a modification of the individual's genome.


disorder of visual system

A disease that involves the visual system.


X-linked intellectual disability, Cabezas type is characterized by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localized to the q24-q25 region of the X chromosome.


overhydrated hereditary stomatocytosis

Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia.


congenital pericardium anomaly

Congenital pericardium anomaly comprises a group of rare congenital cardiac malformations characterized by the complete (Congenital complete agenesis of pericardium) or partial absence of the pericardium (Congenital partial agenesis of pericardium), or by the presence of pericardial cysts (Pleuropericardial cyst).


renal hypomagnesemia 3

Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure.


anosmia, isolated congenital, X-linked

X-linked form of anosmia, isolated congenital.


posterior polymorphous corneal dystrophy 3

Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the ZEB1 gene.


vesicoureteral reflux 3

Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene.


Ehlers-Danlos syndrome, fibronectinemic type

Ehlers-Danlos syndromes (EDS) form a heterogeneous group of inherited connective tissue disorders characterized by variable joint hypermobility and cutaneous hyperextensibility. Type X is distinguished by platelet dysfunction associated with a fibronectin abnormality. Type X EDS has been described in only one family so far. Age of onset is about 13-25 years. Transmission is autosomal recessive.


46,XX sex reversal 1

Presence of testes in an individual with a 46,XX karyotype associated with translocation of the SRY gene, encoding the transcription factor sex-determining region Y protein (SRY-positive).


Seckel syndrome 8

Any Seckel syndrome in which the cause of the disease is a mutation in the DNA2 gene.


medulloblastoma non-WNT/non-SHH

A medulloblastoma that is characterized as a molecular subtype that is not associated with activation of the WNT pathway or sonic hedgehog (SHH) pathway and TP53 mutations are absent.


lung agenesis-heart defect-thumb anomalies syndrome

Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies.


juvenile dermatomyositis

Juvenile dermatomyositis (JDM) is the early-onset form of dermatomyositis (DM), a systemic, autoimmune inflammatory muscle disorder, characterized by proximal muscle weakness, evocative skin lesion, and systemic manifestations.


pulmonary hypertension, primary, 2

Any primary pulmonary hypertension in which the cause of the disease is a mutation in the SMAD9 gene.


lissencephaly due to TUBA1A mutation

Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis.


epidermolysis bullosa simplex 2A, generalized severe


atrial septal defect 4

Any atrial heart septal defect in which the cause of the disease is a mutation in the TBX20 gene.


TMEM165-congenital disorder of glycosylation

TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12).


cancer-associated retinopathy

Cancer associated retinopathy (CAR) is a paraneoplastic disease of the eye associated with the presence of extraocular malignancy and circulating autoantibodies against retinal proteins.


primary coenzyme Q10 deficiency 8

Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ7 gene.


wound botulism

Botulism that is caused by toxin that is produced in a wound contaminated with Clostridium botulinum.


thanatophoric dysplasia, Glasgow variant


parkinsonism-dystonia, infantile

Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal.


autosomal recessive nonsyndromic hearing loss 17

An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S2453 and D7S525 in the chromosome region 7q31.


coccygodynia

Coccygodynia is a rare condition in that causes pain in and around the coccyx (tailbone). Although various causes have been described for the condition, the more commoncausesare direct falls and injury.


nemaline myopathy 5C, autosomal dominant


Charlie M syndrome

Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia-hypodactyly and glossopalatine ankylosis. The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present with hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions in the literature since 1976.


pyruvate dehydrogenase E3-binding protein deficiency

Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction.


striatal degeneration, autosomal dominant 2

Any striatal degeneration, autosomal dominant in which the cause of the disease is a mutation in the PDE10A gene.


pityriasis lichenoides

A rare cutaneous disorder of unknown etiology that can present either as an acute condition, with multiple papular lesions which become vesicular and necrotic (pityriasis lichenoides et varioliformis acuta) or chronic, with small, scaling papules (pityriasis lichenoides chronica).


milker's nodule

Virus diseases caused by the poxviridae.


congenital primary megaureter

An idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing.


glottis cancer

A malignant neoplasm that affects the glottic area of the larynx. The vast majority of cases represent squamous cell carcinomas.


acquired purpura fulminans

A life-threatening, rapidly progressive thrombotic disorder affecting mainly neonates and children that is characterized by purpuric skin lesions and disseminated intravascular coagulation. PF may progress rapidly to multi-organ failure caused by thrombotic occlusion of small and medium-sized blood vessels. There are two forms of PF that are classified according to triggering mechanisms: acute infectious (the most common form), and idiopathic PF.


idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance


clonorchiasis

Infection of the biliary passages with clonorchis sinensis, also called Opisthorchis sinensis. It may lead to inflammation of the biliary tract, proliferation of biliary epithelium, progressive portal fibrosis, and sometimes bile duct carcinoma. Extension to the liver may lead to fatty changes and cirrhosis. (From Dorland, 27th ed)


Zimmermann-Laband syndrome 1

Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the KCNH1 gene.


neuronopathy, distal hereditary motor, autosomal recessive 4

A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported.


Charcot-Marie-Tooth disease, Guadalajara neuronal type


partial duplication of the short arm of chromosome 7

Chromosome 7p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.


ureterolithiasis

The presence of a calculus in the ureter of the kidney; this is most often composed of mineral salts and proteins.


neurodegeneration with brain iron accumulation 2B


atelosteogenesis type III

A skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.


intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency


acquired hemophilia A

An acquired form of hemophilia A, resulting in spontaneous bleeding in individuals with no history of bleeding disorders. It is believed to be caused by spontaneous inhibition of clotting factor VIII by autoantibodies, and is usually associated with other autoimmune conditions.


viral eye infection

Infections of the eye caused by minute intracellular agents. These infections may lead to severe inflammation in various parts of the eye - conjunctiva, iris, eyelids, etc. Several viruses have been identified as the causative agents. Among these are Herpesvirus, Adenovirus, Poxvirus, and Myxovirus.


hydroa vacciniforme-like lymphoma

A rare, EBV-positive cutaneous T-cell lymphoproliferative disorder, composed of CD8 positive cytotoxic T-lymphocytes. It affects children, almost exclusively in Latin America and Asia. Patients present with papulovesicular skin lesions, clinically resembling hydroa vacciniforme, in areas of sun-exposed skin.


Schistosoma mansoni infectious disease

An infection that is caused by Schistosoma mansoni.


14q32 duplication syndrome

14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and myeloproliferative neoplasms, especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed.


radial neuropathy

Disease involving the radial nerve. Clinical features include weakness of elbow extension, elbow flexion, supination of the forearm, wrist and finger extension, and thumb abduction. Sensation may be impaired over regions of the dorsal forearm. Common sites of compression or traumatic injury include the axilla and radial groove of the humerus.


mitochondrial non-syndromic sensorineural hearing loss


alacrima, congenital, autosomal recessive


inclusion body myopathy and brain white matter abnormalities


female genital tuberculosis

Mycobacterium infections of the female reproductive tract (genitalia, female).


neurodevelopmental disorder with language delay and seizures


gingival fibroepithelial polyp

A non-neoplastic nodular lesion that arises from the gingiva. It is composed of epithelial cells lining connective tissue stroma.


autosomal dominant nonsyndromic hearing loss 25

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SLC17A8 gene.


pontocerebellar hypoplasia type 2E

Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VPS53 gene.


female urethral cancer

A cancer that involves the female urethra.


GM1 gangliosidosis type 3

GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis characterized by onset generally during childhood or adolescence and by cerebellar dysfunction.


PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis

A rare genetic primary lymphedema characterized by uniform, widespread lymphedema, often with systemic involvement such as intestinal and pulmonary lymphangiectasia, pleural and pericardial effusions, and chylothorax. There is a high incidence of non-immune hydrops fetalis, which may result in fetal demise or fully resolve after birth. Severe, recurrent facial cellulitis is observed in some patients. Presence of epicanthic folds or micrognathia has occasionally been reported, while intelligence is normal, and seizures are absent.


childhood-onset Steinert myotonic dystrophy


hyperphosphatasia with intellectual disability syndrome 4

Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP3 gene.


acute ackee fruit intoxication

Acute ackee fruit intoxication (also referred to as Jamaican vomiting syndrome or sickness) is caused by the ingestion of unripe Blighia sapida fruits. It is a serious intoxication that is frequent in certain countries in the Caribbean and Western Africa. In contrast, it is rare in France and other Western countries. Intoxication leads to toxic hypoglycaemia and inhibition of neoglucogenesis. The hypoglycaemia is caused by the effect of hypoglycin A, which is found in the arils.


neurodevelopmental disorder with hypotonia, microcephaly, and seizures


qualitative or quantitative defects of plectin


immunodeficiency 25

Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD247 gene.


macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome


mitochondrial complex 4 deficiency, nuclear type 8


atypical dentin dysplasia due to SMOC2 deficiency


autosomal recessive nonsyndromic hearing loss 101

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR2 gene.


Joubert syndrome 28

Any Joubert syndrome in which the cause of the disease is a mutation in the MKS1 gene.


non-cutaneous melanoma

Melanoma is a malignant tumor of melanocytes, cells that are derived from the neural crest. Although most melanomas arise in the skin, they also may arise from mucosal surfaces or at other sites to which neural crest cells migrate. (PDQ)


vitamin K-dependent clotting factors, combined deficiency of, type 2

Any congenital vitamin K-dependent coagulation factors combined deficiency in which the cause of the disease is a mutation in the VKORC1 gene.


hypothalamic adipsic hypernatraemia syndrome


Pick disease

A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies.


bipolar depression

The depressive stage of bipolar disorder.


colobomatous microphthalmia-rhizomelic dysplasia syndrome

Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.


familial hypoparathyroidism

A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects.


peritoneal neoplasm

A benign or malignant neoplasm that affects the peritoneal cavity. Representative examples of benign neoplasms include adenomatoid tumor and disseminated peritoneal leiomyomatosis. Representative examples of malignant neoplasms include primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma.


rhizomelic syndrome, Urbach type

Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies.


retinitis pigmentosa 48

Any retinitis pigmentosa in which the cause of the disease is a mutation in the GUCA1B gene.


Morgagni cataract

A form of hypermature cataract formed by liquefaction of the cortex and sinking of the dense nucleus to the bottom of the capsular bag.


B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)

A precursor lymphoid neoplasm which is composed of B-lymphoblasts and carries a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14, (q31.1;q32.3). It results in eosinophilia.


neurotic excoriation

A condition in which patients produce skin lesions through repetitive, compulsive excoriation of their skin.


Graham Little-Piccardi-Lassueur syndrome is a variant of lichen planopilaris characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin.


malignant tumor of parathyroid gland

A cancer that involves the parathyroid gland.


internal carotid agenesis

Internal carotid artery (ICA) agenesis (uni or bilateral) is a developmental defect that may be asymptomatic or lead to cerebrovascular lesions. It is a rare malformation, with only around hundred cases reported in the literature. When symptoms are present, they are caused by cerebrovascular insufficiency, compression of the brain by vessels that dilate to compensate for the absence of the ICA, or the presence of an aneurysm. Associated intracranial aneurysms occur in 25 to 35% of patients and are often responsible for intracranial hemorrhage, which may present as the initial symptom. The absence of the ICA is the result of either agenesis or aplasia. The term agenesis is used when both the ICA and its bony canal are absent, whereas there is some evidence of carotid canals in cases of aplasia. The absence of the ICA can be detected by angiography or by computerized tomography.


penicilliosis

A disease caused by infection with Talaromyces marneffei.


neuroferritinopathy

Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA) characterized by progressive chorea or dystonia and subtle cognitive deficits.


Barber-Say syndrome

Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.


thrombocytopenia 5

Any thrombocytopenia in which the cause of the disease is a mutation in the ETV6 gene.


spondylocarpotarsal synostosis syndrome

Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism.


chronic dacryoadenitis

Chronic form of dacryoadenitis.


chromosome 1, uniparental disomy 1q12 q21


Charcot-Marie-Tooth disease recessive intermediate D

Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the COX6A1 gene.


Gaucher disease

Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease).


bathing suit ichthyosis

Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of large dark scales in specific areas of the body.


non-amyloid monoclonal immunoglobulin deposition disease


neuronopathy, distal hereditary motor, type 5B

Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the REEP1 gene.


focal facial dermal dysplasia type II

Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities.


developmental and epileptic encephalopathy, 82


celiac trunk compression syndrome

A rare disease caused by compression of the celiac axis by an abnormally shaped arcuate ligament (the part of the diaphragm in which both pillars join in the midline around the aorta). Patients have recurrent abdominal pain, anorexia and weight loss. The pain is epigastric, and diarrhea or constipation may be present as well. Onset of pain will usually, although not always, be after food intake, and may be associated with nausea and emesis. Other symptoms may include lassitude, exercise intolerance and vomiting. Occasionally, a patient may show an abdominal murmur upon auscultation.


disorder of galactose and fructose metabolism

An inherited disorder of carbohydrate metabolism that is has its basis in the disruption of galactose and/or fructose metabolic process.


premature ovarian failure 5

Any primary ovarian failure in which the cause of the disease is a mutation in the NOBOX gene.


RDH12-related recessive retinopathy

A retinopathy, typically severe, and early onset, caused by biallelic variants in the RDH12 gene.