anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism


establishment of cell polarity regulating cell shape

biolink:BiologicalProcess biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:Occurrent biolink:OntologyClass biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

Any cellular process that results in the specification or formation of a polarized intracellular organization or cell growth pattern that regulates the shape of a cell.


inferior vagus X ganglion

biolink:AnatomicalEntity biolink:OrganismalEntity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:PhysicalEssence biolink:SubjectOfInvestigation biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

The large group of sensory neuron cell bodies, anterior to the jugular vein, associated with the vagus nerve (tenth cranial nerve).


ganglion of central nervous system

A ganglion that is part of a central nervous system [Automatically generated definition].


facio-acoustic VII-VIII preganglion complex


vagus X ganglion

The group of sensory neuron cell bodies associated with the vagus nerve.


glossopharyngeal ganglion

The group of neuron cell bodies associated with the ninth cranial nerve.


superior vagus X ganglion

The upper ganglion of the vagus nerve located at the jugular foramen.


vestibular ganglion

The ganglion of the vestibular nerve. It contains the cell bodies of the bipolar primary afferent neurons whose peripheral processes form synaptic contact with hair cells of the vestibular sensory end organs[WP,unvetted]. Distributed to the maculae of the utricle and saccule and to the ampullary crests of the semicircular ducts. The vestibular fibers arise in bipolar cells in the vestibular ganglion in the internal acoustic meatus.


glossopharyngeal-vagus IX-X preganglion complex


inferior glossopharyngeal IX ganglion

The lower group of sensory neuron cell bodies associated with the glossopharyngeal nerve[MP]. It is situated in a depression in the lower border of the petrous portion of the temporal bone[WP].


superior glossopharyngeal IX ganglion

The upper ganglion of the glossopharyngeal nerve[MP]. is situated in the upper part of the groove in which the glossopharyngeal nerve is lodged during its passage through the jugular foramen. It is very small, and is usually regarded as a detached portion of the inferior ganglion.


vestibulocochlear ganglion

The group of neuron cell bodies associated with the eighth cranial nerve during embryogenesis; splits in later development to form the cochlear and vestibular ganglia.


cranial ganglion

The groups of nerve cell bodies associated with the twelve cranial nerves.


vestibulo-cochlear VIII ganglion complex


cochlear ganglion

The group of nerve cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain and resides on the cochlear part of the vestibulocochlear nerve (eighth cranial nerve)[MP]. distributed to the hair cells of the spiral organ. The cochlear fibers arise in bipolar cells in the spiral ganglion in the modiolus.


acoustico-facial VII-VIII ganglion complex


glossopharyngeal-vagus IX-X ganglion complex


heritable pulmonary arterial hypertension

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

Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal.


left ovary

biolink:GrossAnatomicalStructure biolink:AnatomicalEntity biolink:OrganismalEntity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:PhysicalEssence biolink:SubjectOfInvestigation biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

An ovary that is part of a left side of organism [Automatically generated definition].


female germ-line stem cell asymmetric division

The self-renewing division of a germline stem cell in the female gonad, to produce a daughter stem cell and a daughter germ cell, which will divide to form the female gametes.


symmetric division of skeletal muscle satellite stem cell

The symmetric division of a skeletal muscle satellite stem cell, resulting in two skeletal muscle satellite stem cells. This process is involved in amplification of the pool of these cells.


skeletal muscle satellite stem cell asymmetric division

The asymmetric division of a skeletal muscle satellite stem cell to produce two daughter cells, one of which is destined to differentiate and the other to be a quiescent cell that restocks the satellite cell pool.


male germline stem cell symmetric division

The symmetric division of a male germline stem cell to produce two male germline stem cells. An example of this is found in mammalian spermatogonial stem cells, some proportion of which divide symmetrically, so amplifying the population. The choice between asymmetric and symmetric division in this case appears to be internal and stochastic.


female germline stem cell symmetric division

Division of a female germline stem cell to produce two germline stem cells of the same type as the parent.


germline stem cell symmetric division

Division of a germline stem cell to produce two germline stem cells of the same type as the parent.


symmetric stem cell division

Symmetric division of a stem cell to produce two stem cells of the same type as the parent. Symmetric stem cell division is necessary for amplification of stem cell populations in the absence of sources of stem cells external to an existing population.


skeletal muscle satellite stem cell asymmetric division involved in skeletal muscle regeneration

Skeletal muscle satellite cell asymmetric division that occurs during a process in which damaged muscle tissue is being rebuilt.


denitrification pathway

The reduction of nitrate to dinitrogen by four reactions; each intermediate is transformed to the next lower oxidation state; also part of cellular bioenergetics; the nitrogen compounds can serve as terminal acceptors for electron transport phosphorylation in place of oxygen.


neural crest cell migration involved in heart formation

The characteristic movement of a cell from the dorsal ridge of the neural tube towards the heart and that contributes to heart formation.


mesenchymal cell migration

The orderly movement of a mesenchymal cell from one site to another, often during the development of a multicellular organism.


dorsolateral trunk neural crest cell migration

The movement of trunk neural crest cells from the neural tube, travelling dorso-laterally into the ectoderm and continuing toward the ventral midline of the belly. These migrating trunk neural crest cells become melanocytes, the melanin-forming pigment cells.


mesenchymal cell migration involved in limb bud formation

The orderly movement of a mesenchymal cell from one site to another that will contribute to the formation of a limb bud.


neural crest cell migration involved in sympathetic nervous system development

Any neural crest cell migration that is involved in sympathetic nervous system development.


octopamine receptor activity

biolink:MolecularActivity biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:Occurrent biolink:OntologyClass biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

Combining with the biogenic amine octopamine to initiate a change in cell activity. Octopamine is found in both vertebrates and invertebrates and can have properties both of a hormone and a neurotransmitter and acts as an adrenergic agonist.


complement-mediated synapse pruning

Synaptic pruning mediated by complement system signaling.


Childhood Acute Eosinophilic Leukemia

An acute eosinophilic leukemia occurring in children.


trisomy 8q

Trisomy 8q is a very rare disorder characterized by duplication of the long arm of chromosome 8. The most commonly associated abnormalities include low birth weight, craniofacial abnormalities (prominent forehead, flat occiput, hypertelorism, upslanting palpebral fissures, ear and nose deformities, thin upper lips), congenital heart defects, skeletal defects, psychomotor retardation. Phenotypic features vary in relation to the duplication size.


chromosome 8 disorder

Chromosomal disorder in which chromosome 8 is affected.


partial duplication of the short arm of chromosome 8

Chromosome 8p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 8. 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 8p 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.


chromosome 8, trisomy

A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells.


chromosome 8Q12.1-q21.2 deletion syndrome


monosomy chromosome 8

A chromosomal disorder consisting of the absence of one chromosome 8.


8q22.1 microdeletion syndrome

The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance.


8p23.1 duplication syndrome

8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly).


partial deletion of the long arm of chromosome 8

Chromosome 8q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 8q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.


distal trisomy 8q

Distal trisomy 8q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8, with a highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects and skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss, and seizures).


partial deletion of the short arm of chromosome 8

Chromosome 8p deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the short arm (p) of chromosome 8 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Most cases are not inherited, although affected people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.


partial duplication of the long arm of chromosome 8


mesomelia-synostoses syndrome

A syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies.


mosaic trisomy 8

Mosaic trisomy 8 is a chromosomal disorder defined by the presence of three copies of chromosome 8 in some cells of the organism. It is characterized by facial dysmorphism, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies.


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.


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.


8q12 microduplication syndrome

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


8p inverted duplication/deletion syndrome

8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum.


trisomy 8p

Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported.


CIC-rearranged sarcoma

An undifferentiated, high grade small round cell sarcoma affecting predominantly young adults. It is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and either DUX4 gene on chromosome 4 or DUX4L gene on chromosome 10. The translocation results in either CIC-DUX4, t(4;19)(q35;q13) or CIC-DUX4L, t(10;19)(q26;q13) fusions.


Central Nervous System CIC-Rearranged Sarcoma

A rare, undifferentiated, high grade small round cell sarcoma that arises from the central nervous system. It is characterized by a recurrent translocation involving the CIC gene on chromosome 19 resulting in CIC gene fusion with different gene partners.


CIC-DUX4L Sarcoma

An undifferentiated, high grade small round cell sarcoma affecting predominantly young adults. It is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and DUX4L gene on chromosome 10. The translocation results in CIC-DUX4L, t(10;19)(q26;q13) fusions.


artery of upper lip

The superior labial artery (superior labial branch of facial artery) is larger and more tortuous than the inferior labial artery. It follows a similar course along the edge of the upper lip, lying between the mucous membrane and the Orbicularis oris, and anastomoses with the artery of the opposite side. It supplies the upper lip, and gives off in its course two or three vessels which ascend to the nose; a septal branch ramifies on the nasal septum as far as the point of the nose, and an alar branch supplies the ala of the nose.


disease

A disease is a disposition to undergo pathological processes that exists in an organism because of one or more disorders in that organism.


sporadic adult-onset ataxia of unknown etiology

Sporadic adult-onset ataxia of unknown etiology describes a group of non-hereditary degenerative ataxias characterized by a slowly progressive cerebellar syndrome (with ataxia of stance and gait, upper limb dysmetria and intention tremor, ataxic speech, and oculomotor abnormalities), presenting in adulthood (at around 50 years of age), that is not due to a known cause. Extracerebellar symptoms (e.g., decreased vibration sense and absent or decreased ankle reflexes), polyneuropathy and mild autonomic dysfunction may also be present. Mild cognitive impairment has also rarely been reported.


hypogonadotropic hypogonadism 13 with or without anosmia

Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1 gene.


craniosynostosis arthrogryposis cleft palate


baclofen withdrawal syndrome

Withdrawal syndrome involving the abrupt discontinuation of baclofen therapy (intrathecal or oral). Baclofen withdrawal syndrome can result in high fever, altered mental status (including agitation, insomnia, confusion, delusions, hallucinations, seizures, visual changes, or psychosis), and potentially profound muscular rigidity that sometimes progresses to fatal rhabdomyolysis.


hereditary thrombocytopenia and hematologic cancer predisposition syndrome

The disorder is characterized by thrombocytopenia of varying severity and a predisposition to hematologic malignancies. It may be caused due to germ line variations in the RUNX1, ETV6 or ANKRD26 genes.


congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations.


acute pharyngitis

An acute and painful inflammatory process that affects the pharynx. It is usually caused by viruses and less often bacteria. Signs and symptoms include discomfort on swallowing, low-grade fever, headache, and earache.


benign melanocytic skin nevus

A benign, circumscribed proliferation of melanocytes in the skin. Variants include the Spitz nevus, halo nevus, blue nevus, and balloon cell nevus.


abducens nerve palsy

Paralysis of the abducens nerve.


pedophilia

A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving sexual activity with a prepubescent child or children.


classic congenital adrenal hyperplasia

A severe form of congenital adrenal hyperplasia characterized by very low or absent activity of an enzyme in the steroidogenic pathway typically presenting early in life, and requiring life-long cortisol replacement.


brittle cornea syndrome 2

Any brittle cornea syndrome in which the cause of the disease is a mutation in the PRDM5 gene.


Guillain-Barre syndrome, familial

A form of Guillain-Barre syndrome (GBS) that occurs in persons or families with a genetic predisposition to the acute or chronic forms of GBS. Note that GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors, and families with clear Mendelian inheritance have been rarely reported: a mutation in the PMP22 gene (601097) on chromosome 17 was identified in a single family with the acute (AIDP) and chronic (CIDP) forms of inflammatory demyelinating polyneuropathy.


neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy


associative visual agnosia

An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the abilty to describe them.


congenital generalized lipodystrophy type 1

Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the AGPAT2 gene.


inflammatory disease

A disease involving a pathogenic inflammatory response in the anatomical structure.


intellectual disability, autosomal recessive 29


necrotizing sialometaplasia

A benign, inflammatory, variably ulcerated, occasionally bilateral, self-healing lesion of the minor salivary glands that is often confused clinically and histologically with carcinoma.


dendritic cell sarcoma

A sarcoma that involves the dendritic cell.


simple cryoglobulinemia

Simple (monoclonal) cryoglobulinemia or type I cryoglobulinemia refers to the presence in the serum of one isotype or subclass of immunoglobulin (Ig) that precipitates reversibly below 37°C.


cyanide-induced parkinsonism

Cyanide-induced parkinsonism is a rare parkinsonian syndrome due to intoxication which develops in individuals surviving an acute cyanide intoxication episode or due to chronic exposure to small cyanide doses. It presents several weeks after acute exposure with progressive typical clinical features of parkinsonism including bradykinesia, rigidity, dystonia, hypomimia, hypokinetic dysarthria, postural instability and retropulsion but no resting or postural tremor. Brain MRI reveals bilateral lesions in the pallidum, posterior putamen, substantia nigra, subthalamic nucleus, temporal and occipital cortex, and cerebellum.


autosomal recessive non-syndromic intellectual disability

Autosomal recessive form of non-syndromic intellectual disability.


trisomy 21

A chromosomal disorder consisting of the presence of an extra chromosome 21.


mirror movements 1 and/or agenesis of the corpus callosum

A familial congenital mirror movement disorder where individuals with heterozygous variants in DCC have congenital mirror movements and/or agenesis of the corpus callosum (not with or without- some individuals do not demonstrate mirror movements and only have corpus callosum defects, even within the same family).


5-fluorouracil poisoning

5-fluorouracil (5-FU) poisoning is a rare intoxication caused by the prolonged, low-dose administration of 5-FU, which is the mainstay of both adjuvant and advanced-disease chemotherapy regimens in colon cancer. 5-FU poisoning is characterized by gastrointestinal (nausea, emesis, diarrhea, anorexia, stomatitis) and hematologic (myelosuppression) toxicities as well as mucositis, alopecia and, occasionally, palmar-plantar dysesthesia (more commonly known as hand-foot syndrome). Women have been reported to experience more 5-FU-related toxicity than men.


Flaviviridae infectious disease

Infections with viruses of the family flaviviridae.


endometrioid stromal and related neoplasms

A category of mesenchymal gynecologic neoplasms. It includes endometrial stromal nodule, endometrioid stromal sarcoma, and undifferentiated sarcoma. Endometrial stromal nodule has been described in the uterine corpus only. Histologically, it is characterized by the lack of infiltration of the surrounding tissues. Endometrioid stromal sarcoma affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma. Undifferentiated sarcoma was previously also known as high grade endometrial stromal sarcoma. In 2014, high grade endometrial stromal sarcoma was reclassified and is currently considered a distinct and rare neoplasm that affects the uterine corpus only. It appears to have a prognosis that falls between low grade endometrial stromal sarcoma and undifferentiated sarcoma. The latter affects the uterine corpus and rarely the remainder of the anatomic sites.


short stature with microcephaly and distinctive facies


panic disorder without agoraphobia

A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is not a component of this disorder.


prostate neuroendocrine neoplasm

A neoplasm with neuroendocrine differentiation that arises from the prostate gland. This category includes carcinoid tumors and small cell carcinomas.


Al Gazali Khidr Prem Chandran syndrome

A disease characterized by cherubism (disorder characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths.), visual impairment due to optic atrophy and short stature. This is an n-of-1 use case where only one patient or family has been described with this disorder.


acute quadriplegic myopathy

Acute quadriplegic myopathy (AQM) is a specific acquired myopathy in ICU patients. Patients with AQM are characterized by severe muscle weakness and atrophy of spinal nerve innervated limb and trunk muscles, while cranial nerve innervated craniofacial muscles, sensory and cognitive functions are spared or less affected. The muscle weakness is associated with altered muscle membrane properties and a preferential loss of the motor protein myosin and myosin-associated thick filament proteins. Prolonged mechanical ventilation, muscle unloading, postsynaptic block of neuromuscular transmission, sepsis and systemic corticosteroid hormone treatment have been suggested as important triggering factors in AQM.


oculomotor nerve neoplasm

A neoplasm involving a oculomotor nerve.


haemophilus meningitis

Infections of the nervous system caused by bacteria of the genus haemophilus, and marked by prominent inflammation of the meninges. haemophilus influenzae type B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults.


nonsyndromic congenital nail disorder 1

Nail dysplasia is an idiopathic nail dystrophy, beginning in early childhood, and characterized by excessive longitudinal striations and loss of nail luster affecting all 20 nails.


recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome

Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy.


seminal vesicle tumor

A benign or malignant neoplasm that affects the seminal vesicle. Representative examples include cystadenoma and adenocarcinoma.


precocious puberty, central, 2

Any central precocious puberty in which the cause of the disease is a mutation in the MKRN3 gene.


infiltrating angiolipoma

An uncommon lipoma characterized by prominent vascularity that invades the surrounding deep tissue.


malignant migrating partial seizures of infancy

A very rare severe form of epilepsy with poor prognosis that usually begins within a few weeks of birth. The seizure activity can appear in multiple locations in the brain or migrate from one region to another during an episode. It results in severe developmental delay.


radiation sensitivity/chromosome instability syndrome, autosomal dominant


hereditary sensory and autonomic neuropathy

An instance of sensory peripheral neuropathy that is caused by an inherited modification of the individual's genome.


Lewis-Sumner syndrome

A rare acquired demyelinating polyneuropathy characterized by asymmetrical distal weakness of the upper or lower extremities and motor dysfunction with adult onset. It is considered to be a variant of chronic inflammatory demyelinating polyneuropathy.


late latent syphilis

Latent syphilis when infection was acquired more than twelve months previously.


NAA10-related syndrome

Ab X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the NAA10 gene. Patients with variants in the NAA10 gene demonstrate symptoms such as developmental delay, intellectual disability, autism spectrum disorder, hypotonia, facial dysmorphism, cardiac anomalies, and/or skeletal anomalies.


intellectual disability, autosomal recessive 58

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ELP2 gene.


vernal keratoconjunctivitis

Vernal keratoconjunctivitis (VKC) is a chronic, severe allergy that affectsthe surfaces of the eyes. It most commonly occurs in boys living in warm, dry climates. Attacks associated with VKC are common in the spring (hence the name 'vernal') and summer but often reoccur in the winter. Signs and symptoms usually begin before 10 years of age and may include hard, cobblestone-like bumps (papillae) on the upper eyelid; sensitivity to light; redness; sticky mucus discharge; andinvoluntary blinking or spasms of the eyelid (blepharospasm).The condition usually subsides at the onset of puberty. It is caused by ahypersensitivity (allergic reaction)to airborne-allergens. Management focuses on preventing 'flare ups' and relieving the symptoms of the condition.


hyper-IgM syndrome without susceptibility to opportunistic infections


polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly

A rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.


Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found almost exclusively in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological complications.


hypertension, pregnancy-induced

A hypertensive disorder that develops during pregnancy.


hyperlipoproteinemia, type 1D

Any familial hyperlipidemia in which the cause of the disease is a mutation in the GPIHBP1 gene.


megalencephalic leukoencephalopathy with subcortical cysts 1


pelvic dysplasia-arthrogryposis of lower limbs syndrome


early T cell progenitor acute lymphoblastic leukemia

T acute lymphoblastic leukemia in which the blasts have unique immunophenotypic and genetic characteristics suggesting only limited early T-cell differentiation.


UROD-related inherited porphyria

Any inherited porphyria in which the cause of the disease is monoallelic or biallelic variants in the UROD gene.


allergic bronchopulmonary aspergillosis

Allergic bronchopulmonary aspergillosis (ABPA) is a rare immunologic pulmonary disorder caused by hypersensitivity to Aspergillus fumigatus, clinically manifesting with poorly controlled asthma and recurrent pulmonary infiltrates.


endocrine tuberculosis

Infection of the endocrine glands with species of mycobacterium, most often mycobacterium tuberculosis.


uterine corpus carcinofibroma

An uncommon malignant neoplasm arising from the uterine corpus. It is characterized by the presence of a malignant epithelial component and a benign mesenchymal (usually fibrous) component.


non-recovering obstetric brachial plexus lesion


complete atrioventricular canal-tetralogy of fallot syndrome


orbital dermoid cyst

A benign congenital tumor that affects the orbit. It is one of the most common orbital tumors. It is characterized by the presence of a cystic structure that is lined by keratinizing epithelium and contains adnexal structures. Complete surgical excision is curative.


spastic paraplegia 80, autosomal dominant


PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome


disorder of gluconeogenesis

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


focal segmental glomerulosclerosis 9

Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CRB2 gene.


congenital anomalies of kidney and urinary tract 3


intellectual developmental disorder, autosomal dominant 72


hypoglossal nerve disorder

A disease involving the hypoglossal nerve.


eccrine acrospiroma

A rare cutaneous tumor of eccrine sweat gland origin. It is most commonly found on the extremities and is usually benign. There is no indication that heredity or external agents cause these tumors.


lymphoma, Hodgkin, Y-linked pseudoautosomal


Reynolds syndrome

An autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc).


monosomy 21

Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit.


congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies

Congenital hypothyroidism due to transplacental passage of maternal thyroid-stimulating hormone (TSH)-binding inhibitory antibodies is a type of transient congenital hypothyroidism, a thyroid hormone deficiency that is not permanent.


growth delay due to insulin-like growth factor type 1 deficiency

Growth delay due to insulin-like growth factor I deficiency is characterized by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.


familial hyperinflammatory lymphoproliferative immunodeficiency


lissencephaly spectrum disorder with complex brainstem malformation

A lissencephaly spectrum disorder that manifests as posterior predominant pachygyria (ranging from mild severity to classic lissencephaly) and brainstem malformations which include brainstem dysplasia (typically with reduced anteroposterior thickness and transverse broadening of the pons/medulla) and midline crossing defects (anterior commissure, transverse pontine fibers, pyramidal tract, callosum hypoplasia).


WT limb-blood syndrome

WT limb-blood syndrome is characterized by hematological anomalies (Fanconi anemia, leukemia and lymphoma) often appearing during childhood. Anomalies of the limbs and hands are also present: bifid or hypoplastic thumbs, cutaneous syndactyly, and ulnar and radial defects. The syndrome has been described in several families. Transmission is autosomal dominant.


fetal akinesia deformation sequence 1

Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the MUSK gene.


sciatic neuropathy

Disease or damage involving the SCIATIC NERVE, which divides into the PERONEAL NERVE and TIBIAL NERVE (see also PERONEAL NEUROPATHIES and TIBIAL NEUROPATHY). Clinical manifestations may include SCIATICA or pain localized to the hip, PARESIS or PARALYSIS of posterior thigh muscles and muscles innervated by the peroneal and tibial nerves, and sensory loss involving the lateral and posterior thigh, posterior and lateral leg, and sole of the foot. The sciatic nerve may be affected by trauma; ISCHEMIA; COLLAGEN DISEASES; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1363)


axial spondylometaphyseal dysplasia

Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones.Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine,upper arms and upper legs, and results in shortened stature.For reasons not well understood,this rare skeletal dysplasia is also associated withearly and progressivevision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown.It is thought to be inherited in an autosomal recessive fashion.


centrifugal lipodystrophy

Centrifugal lipodystrophy is a rare, acquired, localized lipodistrophy characterized by single or, occasionally, multiple, centrifugally progressive, asymptomatic to sometimes mildly tender, hypopigmented, lipoatrophic skin depressions with weakly erymatheous inflammatory borders, typically associated with regional ipsilateral lymph nodes swelling. Lesions typically occur on lower trunk (in particular groin and abdomen region), followed by upper trunk (axilla and neighboring regions) and, rarely, neck and head. It is usually not associated with systemic disease and is typically self-resolving.


torsion dystonia 17

A dystonia characterized by autosomal recessive inheritance of progressive dystonia, dysphonia, dysarthria and neck torticollis that has material basis in variation in the chromosome region 20p11.2-q13.12.


immunodeficiency 76

An autosomal recessive primary immunologic disorder characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Laboratory studies show T-cell lymphopenia and may show variable B-cell or immunoglobulin abnormalities. More variable features found in some patients include lymphoma and neurologic features. Although bone marrow transplantation may be curative, many patients die in childhood.


autosomal recessive pseudohypoaldosteronism type 1

Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs.


congenital heart defects, multiple types, 3


seminal vesicle acute gonorrhea

Acute form of gonococcal seminal vesiculitis.


hereditary angioedema with normal C1inh not related to F12 or PLG variant


trench fever

An intermittent fever characterized by intervals of chills, fever, and splenomegaly each of which may last as long as 40 hours. It is caused by bartonella quintana and transmitted by the human louse.


ectodermal dysplasia neurosensory deafness


severe congenital nemaline myopathy

Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM) characterized by severe hypotonia with little spontaneous movement in neonates.


encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities


infectious disease, non-human animal

Infectious disease that occurs in non-human animals.


opisthorchiasis

Infection with flukes of the genus Opisthorchis.


chromosome 13 disorder

Chromosomal disorder in which chromosome 13 is affected.


st. Louis encephalitis

A viral encephalitis caused by the St. Louis encephalitis virus (encephalitis virus, st. louis), a flavivirus. It is transmitted to humans and other vertebrates primarily by mosquitoes of the genus culex. The primary animal vectors are wild birds and the disorder is endemic to the midwestern and southeastern United States. Infections may be limited to an influenza-like illness or present as an aseptic meningitis or encephalitis. Clinical manifestations of the encephalitic presentation may include seizures, lethargy, myoclonus, focal neurologic signs, coma, and death. (From Adams et al., Principles of Neurology, 6th ed, p750)


adult onset pityriasis rubra pilaris

A pityriasis rubra pilaris that occurs around the fifth or sixth decade of life.


inflammatory myofibroblastic tumor

A multinodular intermediate fibroblastic neoplasm that arises from soft tissue or viscera, in children and young adults. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes, and plasma cells.


chronic pain syndrome

Chronic form of disorder involving pain.


neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities


combined oxidative phosphorylation deficiency 28

Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SLC25A26 gene.


metachromatic leukodystrophy, adult form


undifferentiated connective tissue syndrome

An autoimmune disorder which does not meet classification criteria used to establish the presence of other well-defined connective tissue diseases.


mitochondrial complex 1 deficiency, nuclear type 36


cataract 32 multiple types

A cataract that has material basis in mutation in the region 14q22-q23.


testicular sex cord-stromal neoplasm

A benign or malignant tumor that arises from the testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the tumor or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, ten percent of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group.


transient pseudohypoaldosteronism

Transient pseudohypoaldosteronism is a renal tubulopathy characterized by renal tubular resistance to aldosterone, characterized by hyponatremia, metabolic acidosis and hyperkalemia and manifesting as dehydration, secondary to urinary tract malformation and infections in infants.


neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features


primary ciliary dyskinesia 23

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ARMC4 gene.


skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome


Meier-Gorlin syndrome 5

Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC6 gene.


neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies


Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1).


morphine dependence

Strong dependence, both physiological and emotional, upon morphine.


inflammatory leiomyosarcoma

A morphologic variant of leiomyosarcoma characterized by the presence of an inflammatory infiltrate admixed with malignant spindle cells.


podoconiosis

A disease of the lymphatic vessels of the lower extremities that is caused by chronic exposure to irritant soils.


mitochondrial complex 1 deficiency, nuclear type 4


uterine corpus endometrial stromal sarcoma

A uterine corpus sarcoma originating from the endometrial stroma. It is further subdivided into low grade and high grade endometrial stromal sarcoma.


pyogenic autoinflammatory syndrome of childhood


autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity


ciliary dyskinesia, primary, 48, without situs inversus


retinitis pigmentosa 3

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


myotonic dystrophy

An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies.


acrocephalopolysyndactyly

A common presentation of craniosynostosis and polysyndactyly.


cataract 10 multiple types

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA1 gene.


atrial fibrillation, familial, 3

Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNQ1 gene.


B-lymphoblastic leukemia/lymphoma with IAMP21

A B-lymphoblastic leukemia/lymphoma that is characterized by amplification of a portion of chromosome 21.


autoimmune disorder of musculoskeletal system

A hypersensitivity reaction type II disease that involves the musculoskeletal system.


retinitis pigmentosa 46

Any retinitis pigmentosa in which the cause of the disease is a mutation in the IDH3B gene.


sporadic hemiplegic migraine

A migraine disorder characterized by an aura that includes motor weakness and the absence of family history.


methemoglobinemia due to deficiency of methemoglobin reductase


focal dermal hypoplasia

A syndrome characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.


basal ganglia calcification, idiopathic, 8, autosomal recessive


dry age related macular degeneration

Dry age related macular degeneration is characterized by the presence of age-related deposits called drusen and atrophy.


Lelis syndrome

Lelis syndrome is characterized by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans.


hereditary spastic paraplegia 53

A very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A.


symmetrical thalamic calcifications

Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding, and facial diplegia or weakness.


hereditary sensory neuropathy X-linked

A hereditary sensory neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life.


chronic pulmonary heart disease

Heart disease which occurs as a result of a primary pulmonary disease. Cor pulmonale most often manifests as right ventricular hypertrophy; it can also lead to right ventricular failure.


autosomal recessive nonsyndromic hearing loss 88

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ELMOD3 gene.


combined oxidative phosphorylation deficiency

A mitochondrial oxidative phosphorylation disorder in which multiple mitochondrial respiratory chain complexes.


myeloid neoplasm associated with PDGFRA rearrangement

A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic eosinophilic leukemia or, less commonly, as acute myeloid leukemia or T-lymphoblastic leukemia with eosinophilia. Patients usually present with eosinophilia, anemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy.


neoplasm with perivascular epithelioid cell differentiation

A soft tissue neoplasm composed of perivascular epithelioid cells. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis.


GUCY2D-related dominant retinopathy

A retinopathy caused by a heterozygous gain of function or dominant-negative variant or in the GUCY2D gene.


urachal sinus

Urachal sinus is a type of congenital urachal anomaly resulting from the failure of the umbilical end of the urachus to close, without continuity to the bladder, and that is usually asymptomatic but can present with continuous cloudy umbilical discharge, tender midline infraumbilical mass and fever when infected.


hereditary spastic paraplegia 2

Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG.


triopia

A craniofacial malformation with prosencephalic duplication; the presence of three eyes.


mirror agnosia

An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field.


Macrocephaly-short stature-paraplegia syndrome is characterized by macrocephaly and midface hypoplasia, intellectual deficit, short stature, spastic paraplegia and severe central nervous system anomalies (hydrocephalus and Dandy-Walker malformation). It has been described in two unrelated adults.


Reoviridae infectious disease

Infections produced by reoviruses, general or unspecified.


methylcobalamin deficiency type cblG

Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine.


Hao-Fountain syndrome due to 16p13.2 microdeletion

A partial deletion of the short arm of chromosome 16 characterized by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioral profile includes impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors.


mesothelial neoplasm

A benign or malignant neoplasm arising from mesothelial cells. Mesothelial cells are the lining cells of the pleura and peritoneum. -- 2003


thoracic disk degenerative disorder

Any degenerative disorder affecting one or more vertebral disks of the thoracic spine.


duplication/inversion 15q11

Isodicentric chromosome 15 syndrome is a chromosome abnormality that affects many different parts of the body. As the name suggests, people with this condition have an extra chromosome (called an isodicentric chromosome 15) which is made of two pieces of chromosome 15 that are stuck together end-to-end. Although the severity of the condition and the associated features vary from person to person, common signs and symptoms include poor muscle tone in newborns; developmental delay; mild to severe intellectual disability; delayed or absent speech; behavioral abnormalities; and seizures. Most cases of isodicentric chromosome 15 syndrome occur sporadically in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person.


trigeminal autonomic cephalalgia

A headache disorder characterized by episodes of unilateral, short lasting pain and associated ipsilateral cranial autonomic symptoms.


urethra leiomyoma

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


granulomatous endometritis

Chronic inflammation of the endometrium characterized by the presence of epithelioid granulomas. Causes include tuberculosis, fungal infections, parasitic infections, and sarcoidosis.


Oguchi disease-2

Any Oguchi disease in which the cause of the disease is a mutation in the GRK1 gene.


avian influenza

Infection of domestic and wild fowl and other birds with influenza A virus. Avian influenza usually does not sicken birds, but can be highly pathogenic and fatal in domestic poultry.


cytophagic histiocytic panniculitis

Cytophagic histiocytic panniculitis (CHP) is a very rare form of panniculitis manifesting as recurrent multiple subcutaneous nodules (which may progressively become ecchymotic and ulcerated), and histologically characterized by lobular panniculitis with lymphocytic and histiocytic infiltration in the subcutaneous adipose tissue.


tetrasomy 5p

Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, venriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia).


GUCY2D-related recessive retinopathy

A retinopathy caused by biallelic variants in the GUCY2D gene.


hypouricemia, familial renal, due to tubular hypersecretion


painful orbital and systemic neurofibromas-marfanoid habitus syndrome


acquired motor neuron disease

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


acromesomelic dysplasia, Campailla Martinelli type


autosomal recessive distal myopathy

Autosomal recessive form of distal myopathy.


autosomal dominant Charcot-Marie-Tooth disease type 2K

Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy.


coronary artery disease, autosomal dominant 2

Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene.


chronic rheumatic pericarditis

Chronic form of rheumatic pericarditis.


nasal cavity inverting papilloma

A benign neoplasm that arises from the ciliated respiratory mucosa that lines the nasal cavity. It results from the invagination and proliferation of epithelial cells in the underlying stroma. Clinical manifestations include nasal obstruction, epistaxis, and anosmia. It has the tendency to recur and extend to adjacent structures. Inverted papillomas are occasionally associated with the development or presence of carcinomas, usually squamous cell carcinomas.


neuronal ceroid lipofuscinosis 8

Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN8 gene.


Charcot-Marie-Tooth disease type 4F

Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones.


Bartter disease type 4B

A Bartter disease that has material basis in simultaneous mutation in both the CLCNKA and CLCNKB genes.


Pelizaeus-Merzbacher disease, transitional form

The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD.


cryohydrocytosis

A rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade.


hypogonadotropic hypogonadism 11 with or without anosmia

Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TACR3 gene.


Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the RNF113A gene.


Lowry-Wood syndrome

Lowry-Wood syndrome is characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive.


ATF6-related retinopathy

A retinopathy caused by biallelic variants in the AFT6 gene.


familial reactive perforating collagenosis

Familial reactive perforating collagenosis is a very rare genetic skin disease characterized by transepidermal elimination of collagen fibers presenting as recurrent spontaneously involuting keratotic papules or nodules.


Leber congenital amaurosis 6

Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPGRIP1 gene.


eosinophilic pustular folliculitis

Eosinophilic pustular folliculitis (EPF) is a skin disorder characterized by recurring itchy, red or skin-colored bumps and pustules (bumps containing pus). The condition is named after the fact that skin biopsies of this disorder find eosinophils (a type of immune cell) around hair follicles. The papules mostly appear on the face, scalp, neck and trunk and may persist for weeks or months. EPF affects males more than females.There are several variants of EPF includingclassic eosinophilic pustular folliculitis (mainly occurring in adults in Japan); HIV-associated EPF, also referred to as immunosuppression-associated EPF; and infantile EPF (with onset from birth or within the first year of life). Whether these are distinct disorders rather than variants of one disorder is controversial, partly because the underlying cause of EFP is not known.Several treatments have been described with variable results, including various oral or topical medications and phototherapy. In patients with HIV-associated disease, antiretroviral therapy tends to greatly diminish symptoms or even eliminate the condition.


oligocone trichromacy

Oligocone trichromacy is a rare non-progressive form of cone photoreceptor dysfunction characterized by reduced visual acuity, normal retinal appearance, absent or reduced cone responses on electroretinography but normal color vision.


non-syndromic male infertility due to sperm motility disorder

Non-syndromic male infertility due to sperm motility disorder is a rare, genetic, non-syndromic male infertility disorder characterized by infertility due to sperm with defects in their cilia/flagella structure, leading to absent motility or reduced forward motility in fresh ejaculate. Reduced semen volume, oligospermia and an increased number of abnormally structured spermatozoa is often present.


Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterized by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked.


ulerythema ophryogenesis

Ulerythema ophryogenesis is characterized by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection.


autosomal recessive ataxia due to PEX2 deficiency


amino acid metabolism disease

A disease that has its basis in the disruption of cellular amino acid metabolic process.


microcephaly, short stature, and impaired glucose metabolism 1


developmental anomaly of metabolic origin


Loeys-Dietz syndrome 4

Any Loeys-Dietz syndrome in which the cause of the disease is a mutation in the TGFB2 gene.


Terrien marginal degeneration

A distinct marginal thinning of the cornea which causes high degree of against-the-rule astigmatism


A congenital disorder of glycosylation with a SSR3 deficiency that affects the brain, lungs and gastrointestinal system, and presents with clinical phenotypes such as seizures, intellectual disability, developmental delay, microcephaly and abnormal brain structure.


cannabis dependence

Physical and psychological dependence on the drug cannabis.


congenital dyserythropoietic anemia

Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA.


sickle cell-hemoglobin E disease syndrome


childhood malignant melanoma

A melanoma that occurs during childhood.


hypotrichosis 9

A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 10q11.23-q22.3.


isolated agammaglobulinemia

Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy.


ring chromosome 7

Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis).


ichthyosis-intellectual disability-dwarfism-renal impairment syndrome

Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterized by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive.


cocaine abuse

Disorders related or resulting from use of cocaine.


frontonasal dysplasia with alopecia and genital anomaly

Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.


cessium poisoning

A heavy metal poisoning that is caused by exposure to cessium.


scarlet fever

A streptococcal infection, mainly occurring among children, that is characterized by a red skin rash, sore throat, and fever.


neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation


Hepadnaviridae infectious disease

Virus diseases caused by the hepadnaviridae.


bilateral generalized polymicrogyria

Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain. Signs and symptoms include severe intellectual disability, problems with movement, and seizures that are difficult or impossible to treat. While the exact cause of bilateral generalized polymicrogyria is not fully understood, it is thought to be due to improper brain development during embryonic growth. Most cases appear to follow an autosomal recessive pattern of inheritance. Treatment is based on the signs and symptoms present in each person.


central diabetes insipidus

Central diabetes insipidus (CDI) is a hypothalamus-pituitary disease characterized by polyuria and polydipsia due to a vasopressin (AVP) deficiency. It can be inherited or acquired (hereditary CDI and acquired CDI).


premature ovarian failure 11

Any primary ovarian failure in which the cause of the disease is a mutation in the ERCC6 gene.


hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome

This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.


Ascaridida infectious disease

Infections with nematodes of the order ascaridida.


well-differentiated liposarcoma

A locally aggressive malignant neoplasm composed of mature adipocytes showing cell size variation and nuclear atypia. It is often associated with the presence of hyperchromatic multinucleated stromal cells, and varying numbers of lipoblasts. There are three histologic subtypes, sclerosing, inflammatory, and spindle cell liposarcoma. These tumors do not usually metastasize unless they undergo dedifferentiation.


hyperekplexia 4

Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by {2:Piard et al., 2018}).nnFor a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 (OMIM:149400).


congenital infiltrating lipomatosis of the face


1q44 microdeletion syndrome

1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.


multiple intestinal atresia

A rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns.


congenital muscular dystrophy caused by variation in POMGNT2

Any congenital muscular dystrophy in which the cause of the disease is a variation in the POMGNT2 gene.


postaxial polydactyly type A, unilateral


inherited auditory system disease

An instance of auditory system disease that is caused by an inherited modification of the individual's genome.


familial Mediterranean fever

Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.


axillary lymphadenitis

An infection of the lymph nodes in the axilla.


autosomal recessive nonsyndromic hearing loss 24

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


primary ciliary dyskinesia 1

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI1 gene.


B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)

A precursor lymphoid neoplasm which is composed of B-lymphoblasts and carries a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein. It has a favorable clinical outcome.


ethylmalonic encephalopathy

Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities.


glycogen storage disease VI

Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease.


qualitative or quantitative defects of titin


bulbospinal muscular atrophy of adulthood

A bulbospinal muscular atrophy that occurs in an adult.


Yersinia pseudotuberculosis infectious disease

Infections with bacteria of the species yersinia pseudotuberculosis.


acute myeloid leukemia, t(11;17)

Any acute myeloid leukemia that has the chromosomal anomaly t(11;17). (A cytogenetic abnormality that involves a translocation between chromosomes 11 and 17.)


myopia 6

Any myopia in which the cause of the disease is a mutation in the SCO2 gene.


pseudohypoaldosteronism type 2

A rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function.


crush syndrome

A medical condition characterized by major shock and renal failure after a crushing injury to skeletal muscle.


mixed germ cell tumor

A malignant germ cell tumor characterized by the presence of at least two different germ cell components. The different germ cell components include choriocarcinoma, embryonal carcinoma, yolk sac tumor, teratoma, and seminoma. It occurs in the ovary, testis, and extragonadal sites including central nervous system and mediastinum.


benign neoplasm of corpus uteri

A benign neoplasm that involves the body of uterus.


non-acquired pituitary hormone deficiency


toxascariasis

Infections with nematodes of the genus toxascaris.


moderate hypophosphatasia

Moderate hypophosphatasia is a rare, moderate form of hypophosphatasia characterized by defective mineralization of bone and/or teeth, premature loss of teeth with intact roots, and reduced serum alkaline phosphatase (ALP) activity. Individuals can present with this form of hypophosphatasia in infancy, childhood, or adulthood.


spinocerebellar ataxia 47

A rare hereditary ataxia characterized by adult onset of slowly progressive cerebellar degeneration with gait ataxia, dysmetria, dysarthria, and in some cases diplopia. Cognitive functions are normal, and seizures are absent. Magnetic resonance imaging reveals mild atrophy of the cerebellar vermis.


granuloma inguinale

A condition resulting from infection by Klebsiella granulomati, which is characterized by ulcerative lesions of the genitalia.


aneuploidy

Chromosomal disorder consisting of the presence a chromosomal abnormality in which there is an addition or loss of chromosomes within a set.


corneal dystrophy, Fuchs endothelial, 3

Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the TCF4 gene.


encephalitis lethargica

A form of encephalitis, the etiology of which is uncertain, that is characterized by lethargy and headache.


mixed cryoglobulinemia type III

Type III mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins containing both polyclonal IgGs and polyclonal IgMs.


Usher syndrome type 1G

Any Usher syndrome in which the cause of the disease is a mutation in the USH1G gene.


cancerophobia

An overwhelming, irrational, and persistent fear of being diagnosed with cancer.


male infertility with teratozoospermia due to single gene mutation

Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail.


corpus callosum dysgenesis hypopituitarism


benign thyroid gland neoplasm

A benign neoplasm arising from the thyroid gland.


laryngo-onycho-cutaneous syndrome

LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites.


Meier-Gorlin syndrome 4

Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDT1 gene.


nephronophthisis 7

Any nephronophthisis in which the cause of the disease is a mutation in the GLIS2 gene.


retinal capillary malformation

Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles.


TCF12-related craniosynostosis

Any syndromic craniosynostosis in which the cause of the disease is a mutation in the TCF12 gene.


combined oxidative phosphorylation deficiency 32


postauricular lymphadenitis

Inflammation of the postauricular lymph nodes.


glycerol kinase deficiency, infantile form

Infantile glycerol kinase deficiency (GKD) is a severe form of GKD characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy.


isolated dystonia

A dystonia (disease) that is not part of a larger syndrome.


Bartter disease type 3

Classic Bartter syndrome is a type of Bartter syndrome, characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.


monocular esotropia

A form of ocular misalignment characterized by an excessive convergence of the visual axes, resulting in a 'cross-eye' appearance. An example of this condition occurs when paralysis of the lateral rectus muscle causes an abnormal inward deviation of one eye on attempted gaze.


hereditary sensory and autonomic neuropathy type 4

Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever.


filarial elephantiasis

Parasitic infestation of the human lymphatic system by wuchereria bancrofti or brugia malayi. It is also called lymphatic filariasis.


non-syndromic renal or urinary tract malformation

A renal or urinary tract malformation that is not part of a larger syndrome.


childhood acute lymphoblastic leukemia

An acute lymphoblastic leukemia occurring during childhood. The majority of cases are B-acute lymphoblastic leukemias. Approximately 15% of the cases are T-acute lymphoblastic leukemias.


epithelial-stromal TGFBI dystrophy

Any corneal dystrophy (disease) in which the cause of the disease is a mutation in the TGFBI gene.


congenital generalized lipodystrophy type 2

Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the BSCL2 gene.


cataract 42

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA2 gene.


adult progressive spinal muscular atrophy, Aran Duchenne type

A progressive muscle weakness and atrophy of the limbs that irregularly affects certain muscles, while it spares others.


autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis


polyneuropathy, inflammatory demyelinating, chronic


paternal uniparental disomy of chromosome 21

Paternal uniparental disomy of chromosome 21 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.


vasculogenic impotence

Inability to achieve and maintain an erection (erectile dysfunction) due to defects in the arterial blood flow to the penis, defect in venous occlusive function allowing blood drainage (leakage) from the erectile tissue (corpus cavernosum penis), or both.


infantile neuronal ceroid lipofuscinosis

A form of neuronal ceroid lipofuscinosis (NCL) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities.


bulbar polio

A form of paralytic poliomyelitis affecting neurons of the medulla oblongata of the brain stem. Clinical features include impaired respiration, hypertension, alterations of vasomotor control, and dysphagia. Weakness and atrophy of the limbs and trunk due to spinal cord involvement is usually associated. (From Adams et al., Principles of Neurology, 6th ed, p765)


limb ischemia

A ischemia that involves the limb.


idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation


isolated autosomal dominant hypomagnesemia, Glaudemans type

Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal.


Niemann-Pick disease type C, severe early infantile neurologic onset


vagina leiomyosarcoma

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


streptococcal meningitis

An infectious meningitis caused by infection with Streptococcus.


pituitary deficiency due to empty sella turcica syndrome


cutaneous botryomycosis

A botromycosis that involves the skin and subcutaneous tissue (it is a more common type).


malignant giant cell tumor of soft parts

An undifferentiated pleomorphic sarcoma characterized by the presence of osteoclast-like giant cells and cellular pleomorphism.


inherited cardiac tumor

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


hydrocephalus, congenital, 3, with brain anomalies


extrarenal rhabdoid tumor

A rhabdoid tumor which arises in the soft tissues. It occurs in infants and children and may be associated with loss of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm.


Pseudomonas aeruginosa infectious disease


nasal cavity and paranasal sinus neoplasm

A benign or malignant neoplasm that affects the nasal cavity or paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.


Gaucher disease type III

Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1.


endometrioid stromal and related neoplasms of the cervix

A category of rare neoplasms that arise from the cervix. It includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma.


achondrogenesis

Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2.


Marie Unna hereditary hypotrichosis

A rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty.


bacterial sexually transmitted disease

Bacterial diseases that are potentially transmitted or propagated by sexual conduct.


connective and soft tissue neoplasm

A benign, intermediate, or malignant neoplasm that affects the connective and soft tissue.


echinococcus granulosus infectious disease

An disease or disorder caused by infection with Echinococcus granulosus.


radial deficiency-tibial hypoplasia syndrome


glycerol kinase deficiency, adult form

Adult glycerol kinase deficiency (GKD) is an uncommon form of GKD diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults.


isolated oxidative phosphorylation complex disorder


hypercontractile muscle stiffness syndrome


ureter leiomyoma

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


intellectual developmental disorder, X-linked 110


craniosynostosis 4

Any craniosynostosis in which the cause of the disease is a mutation in the ERF gene.


intracranial abscess

An abscess that is located in the intracranial space.


erythrokeratodermia variabilis et progressiva 3


alexithymia

An agnosia that is a deficiency in understanding, processing, or describing emotions.


precursor T-cell acute lymphoblastic leukemia


homocarnosinosis

Homocarnosinosis is a metabolic defect characterized by progressive spastic diplegia, intellectual deficit and retinitis pigmentosa. This extremely rare disorder has been reported in only one family, namely a woman and three of her children. The latter showed progressive spastic diplegia, mental retardation and retinitis pigmentosa but their mother was symptom free. It is therefore uncertain whether there is a relationship between the biochemical defect and the clinical symptoms. Inheritance in the reported family seems to be autosomal dominant.


spinal muscular atrophy with respiratory distress type 2

Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene.


myopathy with hexagonally cross-linked tubular arrays

Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without musclar weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus.


neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss


phenobarbital embryopathy

A teratologic disorder associated with intrauterine exposure of phenorbarbital during the first trimester of pregnancy. Infants are usually asymptomatic but an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism, epicanthus, hypoplasia and low insertion of the nose, low insertion of the ears, prognathism, ﬁnger hypoplasia, brachydactyly and hypospadias have been reported in rare cases.


neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome


CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome

A rare genetic autoinflammatory syndrome with immune deficiency characterized by a combination of autoinflammation, immunodeficiency, and neutrophil dysfunction, as well as mild bleeding diathesis. Patients present recurrent attacks of abdominal pain, high fever, and systemic inflammation lasting four to five days and occurring every few weeks. Attacks may be accompanied by nailbed, tongue, submandibular, and gluteal abscesses, intra-abdominal granulomas, pyoderma gangrenosum, and buccal ulcerations. Frequent episodes of purulent paronychia, superficial skin and mucosal infections, and purulent upper respiratory tract infections have also been reported.


nasal dermoid cyst

A dermoid cyst that involves the nose.


combined immunodeficiency due to GINS1 deficiency


spinal cord ischemia

Reduced blood flow to the spinal cord which is supplied by the anterior spinal artery and the paired posterior spinal arteries. This condition may be associated with arteriosclerosis, trauma, emboli, diseases of the aorta, and other disorders. Prolonged ischemia may lead to infarction of spinal cord tissue.


hypotrichosis 10

A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 7p22.3-p21.3.


autosomal dominant epidermolytic ichthyosis


Banki syndrome

Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965.


Warburg micro syndrome 3

Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB18 gene.


exfoliative ichthyosis

Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment.


platelet-type bleeding disorder 8

P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate.


integrative agnosia

Agnosia characterized by the inability to integrate perceptual wholes within knowledge.


body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency

Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs.


cataract 26 multiple types

A cataract that has material basis in variation in the region 9q13-q22.


non-seminomatous lesion

A group of testicular cancers that begin in the germ cells (cells that give rise to sperm). Nonseminomas are identified by the type of cell in which they begin and include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac carcinoma.


chronic salpingitis

Chronic inflammation of the fallopian tube. It usually follows an acute inflammatory attack.


X-linked intellectual disability, Cantagrel type

X-linked Mental retardation Cantagrel type is characterized by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.


short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia


dracunculiasis

Dracunculiasis (Guinea worm disease) is a neglected tropical disease (NTD) characterized by a painful burning skin lesion from which the Dracunculus medinensis parasite emerges approximately 1 year after infection resulting from consumption of unsafe drinking water containing parasite-infected copepods (Cyclops spp., microcrustacea also called water fleas).


male infertility due to globozoospermia

Male infertility due to globozoospermia is a male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida and thus fertilization failures, even with intracytoplasmic spem injection, are frequent.


alternating hemiplegia of childhood 2

Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A3 gene.


epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive

A basal subtype of epidermolysis bullosa simplex EBS characterized by generalized or, less frequently, localized acral blistering.


endothrix infectious disease

A dermatophyte infection of the hair that nvade the hair shaft and internalize into the hair cell.


Olmsted syndrome 1

Any Olmsted syndrome in which the cause of the disease is a variation in the TRPV3 gene.


epidermolysis bullosa simplex 2E, with migratory circinate erythema

A basal subtype of epidermolysis bullosa simplex (EBS) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema.


tibial aplasia-ectrodactyly syndrome

Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.


dental fluorosis

A condition that results from excessive fluoride ingestion during tooth development, resulting in tooth discoloration ranging from white streaks to brown stains and cracks or pits in the tooth enamel.


spinocerebellar ataxia, autosomal recessive 25


growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome

Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SFXN4 gene.


autosomal dominant cerebellar ataxia type II

An autosomal dominant inherited neurodegenerative disorder caused by mutations in the ATXN7 gene. It is characterized by progressive cerebellar ataxia, including dysarthria and dysphagia, cone-rod and retinal dystrophy, and progressive central visual loss resulting in blindness.


hypotonia-cystinuria syndrome

A rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.


myofibrillar myopathy 4

Late-onset distal myopathy, Markesbery-Griggs type is a rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases.


autosomal dominant cerebellar ataxia type III

Autosomal dominant cerebellar ataxia (ACDA) type III is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31.


laryngeal leiomyosarcoma

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


human prion disease

Prion diseases are a group of rare transmissible disorders characterized by progressive debilitating neurological manifestations due to spongiform changes with an invariably fatal course. The disorders all involve accumulation of an abnormal prion protein in the central nervous system with no specific immunological response. Sporadic Creutzfeldt-Jakob disease (CJD) is the most frequent form accounting for about 85% of prion disease cases. The other forms of prion disease are genetic (5-15%) and include inherited CJD, fatal familial insomnia (FFI), and Familial Alzheimer-like prion disease. Acquired forms (< 5%) include iatrogenic CJD and variant CJD (vCDJ).


Eagle syndrome

Eagle syndrome is characterized by recurrent pain in the middle part of the throat (oropharynx) and face. 'Classic Eagle syndrome' is typically seen in patients after throat trauma or tonsillectomy. Symptoms include dull and persistent throat pain that may radiate to the ear and worsen with rotation of the head. Other symptoms may include difficulty swallowing, feeling that there is something stuck in the throat, tinnitus, and neck or facial pain. A second form of Eagle syndrome unrelated to tonsillectomy causes compression of the vessel that carries blood to the brain, neck, and face (carotid artery). This form can cause headache. Eagle syndrome is due to a calcified stylohyoid ligament or an elongated styloid process. The styloid process is a pointed part of the temporal bone that serves as an anchor point for several muscles associated with the tongue and larynx. The mainstay treatment for Eagle syndrome is surgery to shorten the styloid process (styloidectomy). Medical management may include the use of pain and anti-inflammatory medications, antidepressants, and/or steroids. The overall success rate for treatment (medical or surgical) is about 80%.


An amino acid metabolic disorder that are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has material basis in autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4.


autosomal dominant nonsyndromic hearing loss 13

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene.


hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency


retinoschisis, autosomal dominant

Autosomal dominant form of retinoschisis.


Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine.


autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome

Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome is a rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions in brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures.


amyotrophic lateral sclerosis 26 with or without frontotemporal dementia


classic eosinophilic pustular folliculitis


circadian rhythm sleep disorder, irregular sleep wake type

A circadian sleep disorder characterized by at least three sleep episodes per 24-hour period, irregularly from day to day.


disorder of sphingolipid biosynthesis

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


schizophrenia 10

A schizophrenia that has material basis in an autosomal dominant mutation of SCZD10 on chromosome 15q15.


autosomal dominant nonsyndromic hearing loss

Autosomal dominant form of nonsyndromic deafness.


inherited prion disease

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


isolated congenital anonychia

Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission, suggesting autosomal dominant transmission. Anonychia has been described in approximately less than 20 cases; it is likely to be transmitted as an autosomal recessive trait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern.


hemochromatosis type 2A

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


combined oxidative phosphorylation defect type 23

Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the GTPBP3 gene.


methylmalonic aciduria and/or homocystinuria, cblD type

An autosomal recessive inborn disorder of cobalamin metabolism caused by biallelic variants in MMADHC. Depending on the type and location of variants in MMADHC, patients may present with methylmalonic aciduria, homocystinuria, or both. MMADHC has been reported to result in the cblD complementation group of cobalamin disorders.


schizophrenia 1

A schizophrenia that has material basis in an autosomal dominant mutation of SCZD1 on chromosome 5q23-q35.


miliaria profunda

A miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash.


skull cancer

A malignant neoplasm involving the skull.


Leber congenital amaurosis 13

Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RDH12 gene.


fructose-1,6-bisphosphatase deficiency

Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants.


intellectual disability, autosomal recessive 19


hydroa vacciniforme, familial

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


spinocerebellar ataxia, autosomal recessive 31