peroneal neuropathy

Disease involving the common peroneal nerve or its branches, the deep and superficial peroneal nerves. Lesions of the deep peroneal nerve are associated with paralysis of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. Lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. Traumatic injury to the common peroneal nerve near the head of the fibula is a relatively common cause of this condition. (From Joynt, Clinical Neurology, 1995, Ch51, p31)


abdominal obesity-metabolic syndrome quantitative trait locus 2

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hypertrichotic osteochondrodysplasia Cantu type

Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.


X-linked ichthyosis syndrome

X-linked form of inherited ichthyosis syndromic form.


chromosome 10 disorder

Chromosomal disorder in which chromosome 10 is affected.


narcolepsy without cataplexy

Narcolepsy without cataplexy is characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and sometimes paralysis at sleep, hypnagogic hallucinations and automatic behavior.


odontoleukodystrophy

Leukodystrophy with oligodontia is characterised by progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.


separation anxiety disorder

An anxiety disorder characterized by recurrent excessive distress due to fear of separation from the home or from major attachment figures; the distress is developmentally inappropriate and causes impairment in social, academic, or other areas of functioning.


choline deficiency disease

A condition produced by a deficiency of choline in animals. Choline is known as a lipotropic agent because it has been shown to promote the transport of excess fat from the liver under certain conditions in laboratory animals. Combined deficiency of choline (included in the B vitamin complex) and all other methyl group donors causes liver cirrhosis in some animals. Unlike compounds normally considered as vitamins, choline does not serve as a cofactor in enzymatic reactions. (From Saunders Dictionary & Encyclopedia of Laboratory Medicine and Technology, 1984)


MYH-6 related congenital heart defects

A heart disease that is present at birth that is caused by a variation in MYH-6. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot and hypoplastic left heart syndrome.


methicillin-resistant staphylococcus aureus infectious disease

Infections caused by a strain of Staphylococcus aureus that is non-susceptible to the action of the antibiotic, methicillin. The mechanism of resistance usually involves modification of normal or the presence of acquired penicillin binding proteins.


inborn disorder of lysine and hydroxylysine metabolism


chondroid chordoma

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


Klippel-Feil syndrome 1, autosomal dominant

Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF6 gene.


retinal ciliopathy due to mutation in the RPGR gene


chronic hiccup

Chronic hiccup is a rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours.


cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis


acute myeloid leukemia, t(9;11)(p21.3;q23.3)

Any acute myeloid leukemia that has the chromosomal anomaly t(9;11)(p21.3;q23.3). (A cytogenetic abnormality that refers to the translocation of the short arm (p21.3) of chromosome 9 and the long arm (q23.3) of chromosome 11. It is associated with the development of acute myeloid leukemia with the MLLT3-MLL fusion gene transcript.)


symptomatic form of X-linked centronuclear myopathy in female carriers


rigid spine syndrome

Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.


Brucella suis brucellosis

An disease or disorder caused by infection with Brucella suis.


pseudohypoparathyroidism type 1B

Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.


isolated optic neuritis with anti-MOG antibodies


intracranial vasospasm

Constriction of arteries in the skull due to sudden, sharp, and often persistent smooth muscle contraction in blood vessels. Intracranial vasospasm results in reduced vessel lumen caliber, restricted blood flow to the brain, and brain ischemia that may lead to hypoxic-ischemic brain injury (hypoxia-ischemia, brain).


2q23.1 microdeletion syndrome

The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.


neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy


physiological polycythemia

Polycythemia that is not pathologic.


oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies


autosomal dominant secondary polycythemia

Autosomal dominant form of secondary polycythemia.


hereditary spastic paraplegia 34

X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients.


tuberculous encephalopathy

A tuberculosis that is characterized by cerebral edema sometimes with features similar to acute disseminated encephalomyelitis (ADEM) and may manifest with a variety of symptoms ranging from focal neurological deficits to convulsions and decreased conscious state.


paralytic poliomyelitis

A poliomyelitis that results in destruction located in motor neurons of central nervous system, has material basis in Human poliovirus 1, has material basis in Human poliovirus 2, or has material basis in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom loss of reflexes, has symptom muscle spasms, and has symptom acute flaccid paralysis.


childhood carcinoid tumor

A rare carcinoid tumor that occurs during childhood.


intellectual developmental disorder, autosomal recessive 69


tularemia

Tularemia is an infection caused by the bacterium Francisella tularensis. It is more common in rodents and rabbits but has been found in other animals including domestic cats, sheep, birds, and hamsters. Humans can become infected in several different ways: by handling infected animals, through tick or deer fly bites, by drinking contaminated water, or by inhaling contaminated dust or aerosols. Person-to-person transmission has not been reported. The type of tularemia and the particular signs and symptoms vary depending on how the bacteria enter the body. However, fever is seen in most cases. Though tularemia can be life-threatening, most infections can be treated with antibiotics.


pseudomembranous conjunctivitis

Conjunctivitis that is characterized by formation of a pseudomembrane.


B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)

A B-cell acute leukemia characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1. It occurs in children and less often in adults.


atrial septal defect, ostium secundum type


pulmonary valve disorder

A disease involving the pulmonary valve.


retinitis pigmentosa 11

Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF31 gene.


acute myeloid leukemia, del(13q14-q21)

Any acute myeloid leukemia that has the chromosomal anomaly del(13q14-q21). (A cytogenetic abnormality that refers to deletion of chromosome bands 14-21 on the long arm of chromosome 13.)


suppression amblyopia

A nonspecific term referring to impaired vision. Major subcategories include stimulus deprivation-induced amblyopia and toxic amblyopia. Stimulus deprivation-induced amblyopia is a developmental disorder of the visual cortex. A discrepancy between visual information received by the visual cortex from each eye results in abnormal cortical development. strabismus and refractive errors may cause this condition. Toxic amblyopia is a disorder of the optic nerve which is associated with alcoholism, tobacco smoking, and other toxins and as an adverse effect of the use of some medications.


hypercholesterolemia, familial, 4

An autosomal recessive condition caused by mutation(s) in the LDLRAP1 gene, encoding low density lipoprotein receptor adaptor protein 1. The phenotype is similar to that of familial hypercholesterolemia, but generally considered to be a milder form of hypercholesterolemia.


A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis.


orofaciodigital syndrome X

Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993.


X-linked intellectual disability, Stevenson type

An X-linked syndromic intellectual disability characterised by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome.


mitochondrial complex III deficiency nuclear type 4

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


mitochondrial complex 1 deficiency, nuclear type 34


congenitally uncorrected transposition of the great arteries with coarctation


retinitis pigmentosa 37

Any retinitis pigmentosa in which the cause of the disease is a mutation in the NR2E3 gene.


qualitative or quantitative defects of alpha-actin


mixed testicular germ cell cancer

A malignant germ cell tumor that arises from the testis and is characterized by the presence of more than one histologic component. Representative examples include mixed choriocarcinoma and embryonal carcinoma, mixed embryonal carcinoma and seminoma, and mixed yolk sac tumor and teratoma.


congenital muscular dystrophy 1B

Congenital muscular dystrophy type 1B is a rare, genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation.


CNGA1-related retinopathy

An inherited retinopathy caused by bi-allelic variants in the CNGA1 gene.


aortic aneurysm, familial thoracic 9

Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MFAP5 gene.


familial infantile bilateral striatal necrosis

The familial form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.


intellectual disability-severe speech delay-mild dysmorphism syndrome

Intellectual disability-severe speech delay-mild dysmorphism syndrome, also known as intellectual disability with language impairment and with or without autistic features, is adisorder characterized by global developmental delay with moderate to severe speech delay thataffects expressive speech. Most patients have difficulty articulating words. Common signs and symptoms include broad forehead, downslanting palpebral fissures, short nose with broad tip, head appearing too large for the body, frontal hair upsweep, and bulging digit pads anddelatyed gross motor skills. Some patients have autistic features and/or behavioral problems. Congenital malformations may be associated. All reported cases have occurred de novo (without any cases in the family). It is caused by alterations (mutations) in the caused by heterozygous mutation in the FOXP1 gene.


nonanaplastic kidney Wilms tumor

Wilms tumor of the kidney characterized by the absence of nuclear anaplasia.


lymphomatoid granulomatosis

Lymphomatoid granulomatosis (LYG) is a very rare Epstein-Barr virus (EBV)-driven lymphoproliferative disease most commonly occurring in adults (in the fourth to sixth decade of life) and commonly affecting the lungs (with presentations varying from small bilateral pulmonary nodules to large necrotic and sometimes cavitating lesions), skin, central nervous system, and kidneys, but only very rarely affecting the lymph nodes and spleen. The symptoms associated with LYG depend on the site of disease involvement but mainly include cough, dyspnea or chest pain (in those with pulmonary involvement) and constitutional symptoms such as weight loss and fever.


intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellecutal disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).


parietal foramina 2

Any parietal foramina in which the cause of the disease is a mutation in the ALX4 gene.


streptococcus pneumoniae-associated hemolytic uremic syndrome


X-linked hydrocephalus with stenosis of the aqueduct of Sylvius

A form of L1 syndrome caused by changes in the L1CAM gene characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis.


Kunjin virus infectous disease

A West Nile encephalitis that results in infection located in brain, has material basis in Kunjin virus, a subtype of West Nile Virus, which is transmitted by Culex annulirostris mosquito bite. The infection has symptom fever, has symptom rigor, has symptom headache, has symptom confusion, and has symptom lethargy.


Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal.


ectasia of the left appendage

Ectasia of the left atrial appendage is a rare cardiac malformation characterized by the enlargement of the left auricle without any other associated cardiac lesions. It can be asymptomatic (discovered fortuitously during routine chest imaging as an unusual cardiac shadow) or present clinically with supraventricular tachyarrhythmia, paroxysmal tachycardia, embolic events, respiratory distress, chest pain, angina pectoris or heart failure.


Adams-Oliver syndrome

Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.


acquired aplastic anemia

An instance of aplastic anemia that is acquired during the lifetime of the individual.


Fuhrmann syndrome

Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly.


HTRA1-related autosomal dominant cerebral small vessel disease


autoimmune disorder of blood

A hypersensitivity reaction type II disease that involves the blood.


constitutional megaloblastic anemia with severe neurologic disease


partial deletion of the long arm of chromosome 12


mechanical ectropion

An ectropion with a mechanical etiology.


undifferentiated high grade pleomorphic sarcoma of bone

A rare, high-grade pleomorphic malignant neoplasm arising from the bone. It usually presents with pain which may or may not be associated with swelling in the affected area. It is characterized by the presence of spindle-shaped cells, polygonal or epithelioid cells, multinucleated giant cells, and inflammatory cells. The neoplastic cells exhibit nuclear pleomorphism and high mitotic activity. It metastasizes frequently, most often in the lungs.


paroxysmal nocturnal hemoglobinuria 2

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


retinitis pigmentosa 35

Any retinitis pigmentosa in which the cause of the disease is a mutation in the SEMA4A gene.


brachydactyly, type E, with atrial septal defect, type 2


mast cell leukemia

Mast cell leukemia is a malignant form of systemic mastocytosis (SM) characterized, most of the time, by the presence of circulating mast cells.


inborn disorder of the metabolism of sulfur-containing amino acids and hydrogen sulfide

A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of sulfur-containing amino acids and/or hydrogen sulfide.


progressive dementia with neuroserpin inclusion bodies


radioulnar synostosis with amegakaryocytic thrombocytopenia 2

Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the MECOM gene.


diffuse palmoplantar keratoderma with painful fissures


dendritic cell deficiency

A primary immunodeficiency disease characterized by impaired function or reduced numbers of dendritic cells.


spinocerebellar ataxia type 2

Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.


Craniosynostosis-fibular aplasia is an extremely rare genetic disease, reported in only 2 brothers to date, characterized by the combination of craniosynostosis (involving both coronal sutures), congenital absence of the fibula, cryptorchidism, and bilateral simian creases. Intelligence is normal and an autosomal recessive mode of inheritance has been proposed. There have been no further reports in the literature since 1972.


intellectual disability, X-linked 21

Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the IL1RAPL1 gene.


autosomal recessive spastic paraplegia type 67

Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities.


sickle cell-hemoglobin c disease syndrome

A hemoglobinopathy that is considered a hybrid of sickle cell disease and hemoglobin C disease. Patients present with the symptoms of sickle cell disease but the latter are less frequent and severe compared to sickle cell disease.


atypical progressive supranuclear palsy syndrome

Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA).


kidney osteogenic sarcoma

An osteosarcoma arising from the kidney.


anatomical narrow angle borderline glaucoma


nodular fasciitis

A self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the soft tissues. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity.


metaphyseal chondrodysplasia-retinitis pigmentosa syndrome


leptospirosis

A contagious bacterial infection caused by spirochetes of the genus Leptospira. Humans are infected by contact with water and soil which have been contaminated with animal waste products. The signs and symptoms include an initial flu-like phase, followed by a second phase in which patients may develop meningitis, liver failure and renal failure.


visual pathway disorder

A disorder of the neural pathway from the optic nerve to the visual cortex.


autosomal dominant palmoplantar keratoderma and congenital alopecia

Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.


dysostosis with brachydactyly with extraskeletal manifestations


Coffin-Siris syndrome 8

Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCC2 gene.


anomaly of puberty or/and menstrual cycle of genetic origin

An instance of anomaly of puberty or/and menstrual cycle that is caused by a modification of the individual's genome.


diastolic heart failure

Heart failure caused by abnormal myocardial relaxation during diastole leading to defective cardiac filling.


atrial fibrillation, familial, 13

Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN1B gene.


metabolic disease involving other neurotransmitter deficiency


combined oxidative phosphorylation deficiency 40


succinyl-CoA:3-ketoacid CoA transferase deficiency

Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis.


familial multiple fibrofolliculoma

Familial multiple fibrofolliculoma is a genodermatosis characterised by the presence of multiple hamartomas of the hair follicle. It has been described in one family so far.


Norrie disease

A rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.


hypomagnesemia, seizures, and intellectual disability


acute thyroiditis

Acute form of thyroiditis (disease).


cheirospondyloenchondromatosis

Cheirospondyloenchondromatosis is an extremely rare type of enchondromatosis of very early onset (from neonatal period to infancy) characterized by symmetrical multiple enchondromas with metacarpal and phalangeal involvement resulting in short hands and feet, platyspondyly, mild to moderate short stature and intellectual disability.


epithelioid cell melanoma

A melanoma characterized by the presence of malignant large epithelioid melanocytes.


dystonia 24

Any dystonic disorder in which the cause of the disease is a mutation in the ANO3 gene.


mast cell sarcoma

A rare entity characterized by localized but destructive growth of a tumor consisting of highly atypical, immature mast cells.(WHO, 2001)


Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is characterised by phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients (a father and his son and a mother and her daughter) from two unrelated families.


visual snow syndrome

Visual snow syndrome is described as a persistent visual problem characterized by seeing snow-like dots. Migraines are a common symptom. Many people also see drifting blobs of varying size and shape (floaters), visual effects (entopic phenomenon), glare, halos, starbursts, trails, odd colors and shapes, and may have persistent recurrence of a visual image (palinopsia) and double vision. Additional symptoms may include fatigue, tinnitus, or depersonalization and depression. Most people have normal vision tests and normal brain images. Standard migraine treatments are often not helpful. There is no cure or effective treatment to completely relieve the symptoms, but medication seems to help some people with visual snow.


congenital primary megaureter, nonrefluxing and unobstructed form


spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome

A rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.


familial benign flecked retina

Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits.


mucosulfatidosis

Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus.


intellectual disability, autosomal dominant 56


chronic salpingo-oophoritis

Chronic form of salpingo-oophoritis.


benign neoplasm of peripheral nervous system


deep leiomyoma

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


mononeuritis of lower limb

A mononeuritis simplex that involves the hindlimb.


rhizomelic dysplasia, Patterson-Lowry type

Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachimetacarpalia.


Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type.


aplasia of lacrimal and salivary glands

Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation.


isolated anhidrosis with normal sweat glands

Any anhidrosis in which the cause of the disease is a mutation in the ITPR2 gene.


congenital herpes virus infection

An infectious embryofetopathy caused by infection with Herpesviridae.


Brooke-Spiegler syndrome

Brooke-Spiegler syndrome (BSS) is an inherited predisposition syndrome presenting with skin appendage tumors, namely cylindromas, spiradenomas and trichoepitheliomas. A minority of patients can also get major and minor salivary glands neoplasms, usually membranous basal cell adenoma.


low grade central osteosarcoma

A low grade osteosarcoma arising from the medullary portion of the bone. It affects the long bones and is characterized by the presence of fibroblastic stroma and osteoid production. Pain and swelling are the usual sign and symptom. The prognosis is more favorable than conventional osteosarcoma.


spastic ataxia 5

Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated.


inborn carbohydrate metabolic disorder

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


ichthyosis, congenital, autosomal recessive 12

Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CASP14 gene.


diffuse palmoplantar keratoderma - acrocyanosis syndrome

Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterised by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant.


lymph node disorder

Any disorder of the lymph nodes.


intellectual disability, autosomal recessive 6

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIK2 gene.


disorder of uterine broad ligament

A disease or disorder that involves the broad ligament of uterus.


short stature, Brussels type

This syndrome is characterised by short stature presenting in the neonatal period associated with osteochondrodysplastic lesions and facial dysmorphism.


benign neoplasm of ciliary body

A benign neoplasm that involves the ciliary body.


autosomal recessive spinocerebellar ataxia 2

The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training.


autosomal recessive nonsyndromic hearing loss 66

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the DCDC2 gene.


silver-Russell syndrome due to 7p11.2p13 microduplication


retinitis pigmentosa 94, variable age at onset


criss-cross heart

Criss cross heart (CCH) is a cardiac malformation where the inflow streams of the two ventricles cross due to twisting of the heart about its major axis. The clinical features depend on the particular cardiac defects associated, like simple or corrected transposition of the great arteries and ventricular septal defects.


spondyloepiphyseal dysplasia tarda

Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest.


anomaly of the secretory and excretory apparatus of the lacrimal system


short stature due to partial GHR deficiency

Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone.


fried syndrome

A rare X-linked syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies.


familial acanthosis nigricans

An instance of acanthosis nigricans (disease) that is caused by an inherited modification of the individual's genome.


coxsackievirus infectious disease

A heterogeneous group of infections produced by coxsackieviruses, including herpangina, aseptic meningitis (meningitis, aseptic), a common-cold-like syndrome, a non-paralytic poliomyelitis-like syndrome, epidemic pleurodynia (pleurodynia, epidemic) and a serious myocarditis.


cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome


rhabdoid tumor of the kidney

A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor.


45,X/46,XY mixed gonadal dysgenesis

45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development.


Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the PIK3R2 gene.


familial chronic myelocytic leukemia-like syndrome

A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome).


ventricular tachycardia, catecholaminergic polymorphic 6


hereditary thrombocytopenia with normal platelets


hypogonadotropic hypogonadism 7 with or without anosmia

A hypogonadotropic hypogonadism that has material basis in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported.


Niemann-Pick disease type C, juvenile neurologic onset


Corticosteroid-binding globulin deficiency is a genetic disorder characterized by extreme tiredness (fatigue), particularly after physical exertion, and low blood pressure (hypotension). Corticosteroid-binding globulin (CBG) is a protein primarily produced in the liver that attaches to cortisol, a hormone with numerous functions, including maintaining blood sugar levels, protecting the body from stress, and suppressing inflammation.When cortisol is needed in the body, CBG delivers the cortisol where it is needed and releases it. Signs and symptoms of CBG deficiency vary. While some individuals may experience no symptoms, others are found to have a fatty liver and chronic pain. Some people with CBG deficiency also have chronic fatigue syndrome. CGB deficiency is caused by mutations in the SERPINA6 gene. The SERPINA6 gene is commonly also referred to as the CBG gene. Both autosomal dominant and autosomal recessive inheritance have been reported.While there is still no cure, treatment options will depend on the type and severity of symptoms present and may involve several specialists.


partial duplication of the short arm of chromosome 11


atrial fibrillation, familial, 15

Any familial atrial fibrillation in which the cause of the disease is a mutation in the NUP155 gene.


linear lichen planus

Linear lichen planus (LLP), also referred to as Blaschkoid LP, is a rare type of lichen planus characterized by a linear distribution of lichenoid lesions along the lines of Blaschko, which are embryonic pathways of skin development.


mesenteric lymphadenitis due to Yersinia infection

An mesenteric lymphadenitis caused by infection with Yersinia pseudotuberculosis.


placenta praevia

Abnormal placentation in which the placenta implants in the lower segment of the uterus (the zone of dilation) and may cover part or all of the opening of the cervix. It is often associated with serious antepartum bleeding and premature labor.


diencephalic-mesencephalic junction dysplasia syndrome 1


HIV infectious disease

An infection caused by the human immunodeficiency virus.


kaposiform lymphangiomatosis

A generalized lymphatic anomaly characterized by kaposiform spindled lymphatic endothelial cells.


retinitis pigmentosa 67

Any retinitis pigmentosa in which the cause of the disease is a mutation in the NEK2 gene.


short stature-pituitary and cerebellar defects-small sella turcica syndrome

Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterised by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25).


GM3 synthase deficiency

GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development. Within the first few weeks after birth, affected infants become irritable and develop feeding difficulties and vomiting that prevent them from growing and gaining weight at the usual rate. Seizures begin within the first year of life and worsen over time. Multiple types of seizures are possible, including generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Some affected children also experience prolonged episodes of seizure activity called nonconvulsive status epilepticus. The seizures associated with GM3 synthase deficiency tend to be resistant (refractory) to treatment with antiseizure medications.


disorder of iron metabolism and transport


pigmented nodular adrenocortical disease, primary, 2

Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE11A gene.


X-linked intellectual disability with hypopituitarism

An X-linked intellectual disability in which the cause of the disease is a mutation in the SOX3 gene, with variable phenotypes including growth hormone deficiency due to hypopituitarism. It is undetermined if SOX3 is the only gene associated with this disease.


schizophrenia 11

A schizophrenia that has material basis in a mutation on chromosome 10q22.3.


intellectual disability, autosomal dominant 27


alopecia universalis onychodystrophy vitiligo

A syndrome characterized by total alopecia (hair loss), total vitíligo, and nail changes. The nail changes consist of fine pitting, associated with softness, and friability and may include horizontal splitting. The vitiligo is characterized by complete, rapid uniform loss of pigment which occurrs without going through a patchy state. The entire cutaneous surface is light and translucent-appearing and is prone to burning on exposure to the sun.


choroidal sclerosis

A neurodegenerative disease that involves the optic choroid.


intellectual disability, X-linked 46

Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ARHGEF6 gene.


genetic dementia

Genetic dementia.


SELENON-related myopathy

Myopathy caused by pathogenic variants in SELENON that is congenital or present early in childhood with neonatal hypotonia, delayed motor development, axial muscle weakness, scoliosis, and significant respiratory involvement. Spinal rigidity of varying severity is often present.


ciliary dyskinesia, primary, 47, and lissencephaly


paraurethral gland neoplasm

A neoplasm (disease) that involves the paraurethral gland.


Niemann-Pick disease type E

Niemann-Pick disease, type E is a poorly defined adult-onset and non-neuronopathic form of Niemann-Pick disease.


amphetamine abuse

Disorders related or resulting from use of amphetamines.


distal trisomy 22q

Distal trisomy 22q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with variable phenotype principally characterized by varying degrees of intellectual disabilty and developmental delay, pre- and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (incl. microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip an/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies, have also been reported.


episodic ataxia type 4

Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia.


retinitis pigmentosa 34

A retinitis pigmentosa that has material basis in variation in the chromosome region Xq28.


platelet-type bleeding disorder 15

Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ACTN1 gene.


Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant.


microphthalmia-brain atrophy syndrome

Microphthalmia-brain atrophy (MOBA) syndrome is a rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter.


Behcet syndrome arthropathy

Arthropathy resulting from Behcet's syndrome.


epiglottis neoplasm

A benign or malignant neoplasm that affects the epiglottis.


X-linked disease

X-linked form of disease.


Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.


exostoses, multiple, type 1

Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene.


postoperative ventricular dysfunction

Postoperative ventricular dysfunction (VnD) occurs in 9-20% of coronary artery bypass graft (CABG) surgical patients and is associated with increased postoperative morbidity and mortality.


Huntington disease-like 3

Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy.


16p11.2p12.2 microduplication syndrome

16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behaviour, behavioural problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described.


cortical dysplasia, complex, with other brain malformations 9


refractory precursor T-lymphoblastic lymphoma/leukemia

T-lymphoblastic leukemia/lymphoma resistant to treatment


epiphyseal dysplasia, multiple, 2

Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A2 gene.


Czech dysplasia, metatarsal type

Czech dysplasia, metatarsal type is a form of skeletal dysplasia characterised by severe arthropathy beginning in childhood and hypoplasia/dysplasia of the third, fourth and/or fifth toes.


Osteoporosis-oculocutaneous hypopigmentation syndrome is characterised by osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive.


Aicardi-Goutieres syndrome 9

A type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration. Patients present in infancy with irritability and spasticity. Brain imaging shows diffusely abnormal white matter, cerebral atrophy, and intracranial calcification. Premature death has been associated with renal and/or hepatic failure.


non-specific granulomatous orchitis

Granulomatous inflammation of the testis. It is characterized by the formation of granulomas around the seminiferous tubules. History of trauma may be present. It is assumed to be a reactive process due to autoimmune phenomena.


46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency.


syndromic microphthalmia

A microphthalmia that is part of a larger syndrome.


balloon cell malignant melanoma

A rare variant of melanoma with a vertical growth phase. It presents as a nodular or polypoid skin lesion. It is characterized by the presence of nodules which contain large melanoma cells with clear, foamy or finely vacuolated cytoplasm. The prognosis is similar to that of other melanomas matched for depth of invasion.


MAN1B1-congenital disorder of glycosylation

MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3).


fetal erythroblastosis

A disorder of the fetus or newborn that occurs when fetal cells that are coated with IgG alloantibodies from the mother attack antigens inherited from the father. Severity can range from absence of symptoms to death.


primary immunodeficiency due to calcium channel deficiency

An immunodeficiency disease caused by a variation in the CRACR2A gene.


myopia 25, autosomal dominant

Any myopia (disease) in which the cause of the disease is a mutation in the P4HA2 gene.


spinocerebellar ataxia, autosomal recessive 33


anhidrosis, familial generalized, with abnormal or absent sweat glands


maxillary neoplasm

Cancer or tumors of the maxilla or upper jaw.


immature teratoma

A teratoma composed of immature, fetal-type tissues.


Alsing syndrome

An autosomal recessive, oculo-reno-skeletal syndrome characterized by bilateral atypical macular coloboma, familial juvenile nephronophthisis and mesomelic skeletal dysplasia of upper limbs with bilateral radiohumeral fusion.


neurodevelopmental disorder

A behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions.


autosomal dominant nonsyndromic hearing loss 11

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene.


partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome

A rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts.


partial duplication of the long arm of chromosome 2

Chromosome 2q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 2. 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 2q 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.


mitochondrial complex 1 deficiency, nuclear type 6


rippling muscle disease

A benign myopathy with symptoms and signs of muscular hyperexcitability. The typical finding is electrically silent muscle contractions provoked by mechanical stimuli and stretch


xeroderma pigmentosum group B

Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC3 gene.


epidermolysis bullosa simplex 1C, localized

A basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.


ALG9-associated autosomal dominant polycystic kidney disease

Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the ALG9 gene.


ureteric orifice cancer

A malignant neoplasm involving the ureteral orifice.


thyroid hormone resistance, generalized, autosomal dominant


Patterson-Stevenson-Fontaine syndrome

Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies.


rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies


scrapie

A fatal disease of the nervous system in sheep and goats, characterized by pruritus, debility, and locomotor incoordination. It is caused by proteinaceous infectious particles called prions.


absent radius-anogenital anomalies syndrome

Absent radius-anogenital anomalies syndrome is a rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993.


atrioventricular node disorder

A disease involving the atrioventricular node.


pseudoleprechaunism syndrome, Patterson type

Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981.


desmoplastic nevus

A benign melanocytic nevus characterized by the presence of desmoplastic stroma.


TRPM1-related retinopathy

An inherited retinopathy caused by bi-allelic variants in the TRPM1 gene.


synostosis

A disease characterized by abnormal union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue.


testicular fibrothecoma

A rare testicular sex cord-stromal neoplasm characterized by mixed features of both fibroma and thecoma.


muscular dystrophy-white matter spongiosis syndrome


xeroderma pigmentosum variant type

Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer.


hypothyroidism, congenital, nongoitrous, 9


light chain deposition disease

Light chain deposition disease (LCDD) is a rare condition characterized by the deposition of specific proteins (monoclonal light chains) in the kidneys and other organs. Light chains are used to make antibodies that the body needs to fight infection. People with LCDD make too many light chains, which get deposited in many body tissues. While LCDD can occur in any organ, the kidneys are always involved. Signs and symptoms of LCDD may include protein in the urine ; decreased kidney function; and/or nephrotic syndrome. Rarely, a person with LCDD may have symptoms from cardiac (heart) or liver involvement. The underlying cause of LCDD is unknown. It is often associated with multiple myeloma. LCDD may progress to multiple myeloma, or it may be present with multiple myeloma when it is first diagnosed. The goal of treating LCDD is to slow the production of light chains and their damage to organs. Treatment may include chemotherapy with a drug called Bortezomib ; autologous stem cell transplantation ; immunomodulatory drugs; and/or kidney transplant. If untreated, end-stage renal disease occurs in 70% of cases.


osteoarthritis, toe

Osteoarthritis of the foot generally affects the joint at the base of your big toe. It can cause your toe to: - become stiff over time, which can make it difficult and painful to walk – this is called hallux rigidus - become bent, which can lead to painful bunions (bony lumps at the base of your big toe) – this is called hallux valgus. Osteoarthritis of the mid-foot is also quite common, especially in older people, and may cause an obvious bony swelling (osteophyte) on the top of your mid-foot. Ankle osteoarthritis is least common and may cause your heel to move to an unusual angle.


Kleefstra syndrome due to 9q34 microdeletion


ischio-vertebral syndrome

Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism.


early-onset familial hypoaldosteronism

A rare type of familial hypoaldosteronism characterized by early infantile onset of vomiting, diarrhea, severe dehydration, and failure to thrive. Analysis of plasma electrolytes shows hyponatremia, hyperkalemia, and acidosis. Plasma renin activity is elevated, and aldosterone levels are low.


complex cortical dysplasia with other brain malformations 4

Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBG1 gene.


metatropic dysplasia

Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.


autosomal dominant nonsyndromic hearing loss 48

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO1A gene.


mucopolysaccharidosis type 2, severe form

Mucopolysaccharidosis type 2 (MPS2), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.


generalized dominant dystrophic epidermolysis bullosa

Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails.


ALG2-congenital disorder of glycosylation

A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive.


spondyloepimetaphyseal dysplasia, Irapa type

A spondyloepimetaphyseal dysplasia is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment.


acute myeloid leukemia, t(8;16)

Any acute myeloid leukemia that has the chromosomal anomaly t(8;16). (A cytogenetic abnormality that involves a translocation between chromosomes 8 and 16.)


vitelliform macular dystrophy 5

Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG2 gene.


ricin poisoning

A rare disorder due to poisoning characterized by acute onset of potentially life-threatening illness following ingestion, inhalation, or injection of ricin, a lectin present in the seeds of <i>Ricinus communis</i>, the castor oil plant. Clinical presentation depends on the route of administration, inhalation being the most toxic route, followed by oral ingestion. Presenting signs and symptoms include nausea, vomiting, diarrhea, hematemesis, and melena (upon ingestion), cough, wheezing, dyspnea, sore throat, and congestion (upon inhalation), and erythema, induration, blisters, capillary leak syndrome, and localized necrosis (upon injection). The condition can progress to seizures, shock, organ failure, pulmonary edema, and respiratory failure.


Batten-Turner congenital myopathy

A congenital myopathy in which a family of 6 siblings presented in infancy the picture of 'amyotonia congenita' and later in life a nonprogressive myopathy.


intellectual developmental disorder, autosomal recessive 70


setariasis

Infection with nematodes of the genus Setaria. This condition is usually seen in cattle and equines and is of little pathogenic significance, although migration of the worm to the eye may lead to blindness.


partial sensory epilepsy

A disorder characterized by recurrent focal onset seizures which have sensory (i.e., olfactory, visual, tactile, gustatory, or auditory) manifestations. Partial seizures that feature alterations of consciousness are referred to as complex partial seizures (epilepsy, complex partial).


cat-scratch disease

Cat scratch disease is an infectious illness caused by the bacteria bartonella (Bartonella henselae). It is believed to be transmitted by cat scratches, bites, or exposure to cat saliva. This self-limiting infectious diseaseis characterized by a bump or blister at the site of the bite or scratch and swelling and pain in the lymph nodes. Other features may include fatigue, headache, achiness, and fever. Although cat-scratch disease usually subsides without treatment, antibiotic and/or antimicrobial therapy may help speed recovery.


intellectual developmental disorder, autosomal dominant 64


Cowden syndrome 1

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


conventional fibrosarcoma

A malignant mesenchymal neoplasm composed of fibroblasts, and characterized by collagen production and usually a herringbone architectural pattern.


Charcot-Marie-Tooth disease type 2

A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.


autosomal recessive amelia

Autosomal recessive amelia is characterised by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three foetuses born to non consanguineous parents.


ataxia - oculomotor apraxia type 4

Any oculomotor apraxia or related oculomotor disease in which the cause of the disease is a mutation in the PNKP gene.


combined deficiency of factor V and factor VIII

Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms.


intellectual disability, autosomal dominant 42

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GNB1 gene.


neurodegeneration, childhood-onset, with progressive microcephaly


aniridia-renal agenesis-psychomotor retardation syndrome

Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974.


idiopathic macular telangiectasia type 3

A rare, acquired, eye disease characterized by progressive visual loss, due to bilateral juxtafoveolar capillary occlusions, capillary telangiectasia, and minimal exudation. It is associated with systemic or cerebral vascular occlusive disease.


juvenile amyotrophic lateral sclerosis with dementia

A juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia.


cataract 12 multiple types

A cataract that has material basis in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22.


immunodeficiency-related disorder

A non-neoplastic or neoplastic disorder that develops in a patient with immunodeficiency. Representative examples include AIDS-related disorders and disorders that develop following organ transplantation.


non-specific autoimmune supratentorial encephalitis without characteristic antibodies


acute myeloid leukemia, Trisomy 8

Any acute myeloid leukemia that has the chromosomal anomaly Trisomy 8. (A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells.)


torsion dystonia 13

DYT13 type primary dystonia is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement.


myocardial stunning

Prolonged dysfunction of the myocardium after a brief episode of severe ischemia, with gradual return of contractile activity.


parovarian cyst

A cyst (cysts) near the ovary, derived from anomalies of the fallopian tubes or the broad ligament. The paramesonephric type consists of ciliated cells similar to the oviduct epithelium. The mesonephric type consisted of an epithelium with minimally surface structures. They can be found on the thin oviduct (paratubal cysts) or near its fimbriated end (hydatid of Morgagni).


acute endometritis

An acute, usually bacterial infection affecting the endometrium. It is characterized by the presence of neutrophils or microabscesses in the endometrial glands. Symptoms include fever, lower abdominal pain, and vaginal discharge.


paraneoplastic isolated brainstem encephalitis


familial melanoma

Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family.


acute myeloid leukemia, t(9;22)(q34.1;q11.2)

Any acute myeloid leukemia that has the chromosomal anomaly t(9;22)(q34.1;q11.2). (A translocation between chromosomes 9 and 22 that is associated with the Philadelphia chromosome.)


acute myeloid leukemia, Non-KMT2A MLLT10 rearrangement positive

Any acute myeloid leukemia that has the chromosomal anomaly Non-KMT2A MLLT10 rearrangement positive. (An indication that a cytogenetic rearrangement involving MLLT10 but not involving KMT2A was detected in a sample.)


Charcot-Marie-Tooth disease type 5

Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity.


inherited non-syndromic ichthyosis

A inherited ichthyosis that is not part of a larger syndrome.


disseminated peritoneal leiomyomatosis

A rare, benign process that affects the peritoneal cavity and is characterized by the formation of multiple small nodules that are composed of well differentiated smooth muscle. It usually affects adults in their late reproductive years. Most patients are asymptomatic. The tumor nodules may regress spontaneously.


neonatal brainstem dysfunction

Neonatal brainstem dysfunction is a rare neurologic disease characterized by the association of suction-swallowing dysfunction, abnormal laryngeal sensitivity and motility (manifesting with dyspnea or obstructive apnea-hypopnea), gastroesophageal reflux (generally resistant to medication) and cardiac vagal overactivity (e.g. brachycardia, vasovagal episodes) of varying degrees of severity. Impaired social interaction has also been reported.


NK cell deficiency

A primary immunodeficiency disease that results from defeciency in the number or function of CD56+CD3− NK cell in peripheral blood.


adult-onset foveomacular vitelliform dystrophy

Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region.


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1

Any autosomal dominant progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene.


xeroderma pigmentosum group C

An autosomal recessive inherited disorder caused by mutations in the XPC gene. This disease is characterized by increased sensitivity to sunlight with the development of carcinomas at an early age and is caused by a defect in nucleotide excision repair.


microcephaly with intellectual disability

Microcephaly characterized by both microcephaly and atypical neurodevelopment, without other commonly reported non-brain related phenotypes.


symptomatic heart failure

A heart failure which results in symptoms such as shortness of breath, fatigue, inability to exerciseb& etc


pili torti-onychodysplasia syndrome

Pili torti-onychodysplasia is a form of ectodermal dysplasia characterised by dystrophy of the distal part of the nails and trichodysplasia. It has been described in only one family. Transmission is autosomal recessive.


trisomy 18p

Trisomy 18p is an extremely rare chromosomal anomaly with a poorly defined clinical phenotype. Reported manifestations include short stature, mild, moderate or severe developmental delay and intellectual disability, variable but mild facial dysmorphism, and epilepsy.


benign neoplasm of scrotum

A benign neoplasm that involves the scrotum.


Joubert syndrome 21

Any Joubert syndrome in which the cause of the disease is a mutation in the CSPP1 gene.


autosomal dominant spastic paraplegia type 80


amyotrophic lateral sclerosis type 19

Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ERBB4 gene.


systemic-onset juvenile idiopathic arthritis

Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio.


oromandibular dystonia

Oromandibular dystonia (OMD) is a form of focal dystonia, affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles.


inflammatory poikiloderma with hair abnormalities and acral keratoses


episodic ataxia type 7

Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings.


iatrogenic or traumatic pituitary deficiency


hypotrichosis 12

Any hypotrichosis in which the cause of the disease is a mutation in the RPL21 gene.


combined oxidative phosphorylation defect type 27

Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the CARS2 gene.


nemaline myopathy 5

Amish nemaline myopathy is a type of nemaline myopathy (NM) only observed in several families of the Amish community.


orofaciodigital syndrome IV

Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.


trigonocephaly-broad thumbs syndrome

Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait.


neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion


nanophthalmia

Nanophthalmia is a severe form of microphthalmia characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma.


inborn errors of metabolism

An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function.


Cowden syndrome 3

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


tyrosine hydroxylase deficiency

Tyrosine hydroxylase (TH) deficiency is an autosomal recessive disorder characterized by a spectrum of phenotypic features, based on severity and response to levodopa. It can be broadly categorized into TH-deficient dopa-responsive dystonia (mild, with dramatic and sustained response to levodopa), TH-deficiency infantile parkinsonism with motor delay (severe, with incomplete response to levodopa), and TH-deficiency infantile encephalopathy (very severe, with little to no response to levodopa).


monosomy 9q22.3

Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.


dentinogenesis imperfecta type 3

Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy).


primary ciliary dyskinesia 9

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI2 gene.


X-linked intellectual disability, Stoll type is characterised by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked.


erythema multiforme major

A severe, sometimes life-threatening, form of erythema multiforme. It is considered to be a hypersensitivity skin reaction triggered by a variety of stimuli, including infections and medication. It is characterized by raised, edematous papules in the extremities; involvement of one or more mucous membranes; and epidermal detachment involving less than ten percent of the total body surface area.


spinocerebellar ataxia type 25

Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia and prominent sensory neuropathy.


retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome


la Crosse encephalitis

La Crosse encephalitis (CE) is an acute arboviral infection caused by the La Crosse bunyavirus transmitted by an infected mosquito, usually observed in infants, children or adolescents (6 months to 16 years), and characterized by the onset of flulike symptoms such as fever, chills, nausea, vomiting, headache, and abdominal pain, followed by the onset of encephalitis characterized by somnolence, obtundation, and even seizures, focal neurologic signs (asymmetrical reflexes or Babinski signs), paralysis or even coma. CE can leave sequelae such as residual epilepsy and neurocognitive deficits.


intellectual disability, autosomal recessive 2

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


Whitewater Arroyo hemorrhagic fever

A viral infectious disease that is a hemorrhagic fever, has material basis in Whitewater Arroyo virus, which is transmitted by white-throated woodrats (Neotoma albigula). The infection has symptom fever, has symptom headache, has symptom myalgia, and has symptom hemorrhagic manifestations.


distal monosomy 9p

Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma.


short-rib thoracic dysplasia 14 with polydactyly

An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23.


cone-rod dystrophy 12

Any cone-rod dystrophy in which the cause of the disease is a mutation in the PROM1 gene.


Joubert syndrome 2

Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM216 gene.


inborn disorder of histidine metabolism

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


cataract 36

Any cataract in which the cause of the disease is a mutation in the TDRD7 gene.


Gordon syndrome

An extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.


histiocytic and dendritic cell neoplasm

Rare tumors that affect the hematopoietic and lymphoid tissues. The cells of origin are the histiocytes and accessory cells. They can occur at any age and show no significant variations in geographical distribution. This category includes the histiocytic sarcoma, Langerhans cell histiocytosis, Langerhans cell sarcoma, interdigitading dendritic cell sarcoma/tumor, follicular dendritic cell sarcoma/tumor, and dendritic cell sarcoma, not otherwise specified. (WHO, 2001)


short-rib thoracic dysplasia 7/20 with polydactyly, digenic


actinic cheilitis

Cheilitis due to chronic exposure to ultraviolet (UV) radiation. It may increase the risk for the development of invasive squamous cell carcinoma of the lip.


AIDS phobia

An overwhelming, irrational, and persistent fear of contracting Acquired Immune Deficiency Syndrome.


ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant


LIPE-related familial partial lipodystrophy


congenital hereditary facial paralysis-variable hearing loss syndrome

Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus.


rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked


acute myeloid leukemia, t(1;11)(q21;q23)

Any acute myeloid leukemia that has the chromosomal anomaly t(1;11)(q21;q23). (A cytogenetic abnormality that refers to the translocation of the long arm (q21) of chromosome 1 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/MLLT11 (AF1Q) fusions, acute myeloid leukemia and some cases of acute lymphoblastic leukemia.)


thelaziasis

A disease caused by infection with Thelazia.


2q24 microdeletion syndrome

2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.


femoral cancer

A cancer involving a femur.


botulism

A serious bacterial infection caused by botulinum toxin which is produced by Clostridium botulinum. Patients are infected usually by ingestion of contaminated food or wound contamination. It leads to muscle paralysis which may result in respiratory failure.


hereditary spastic paraplegia 47

Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4B1 gene.


atypical choroid plexus papilloma

A choroid plexus papilloma characterized by increased mitotic activity.


pelvis syndrome

PELVIS is an acronym defining the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.


chromosome 3q13.31 deletion syndrome

3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicantic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present.


MELAS syndrome caused by mutation in MTTC

Any MELAS syndromein which the cause of the disease is a mutation in the MTTC gene.


neuropathy, hereditary motor and sensory, type 6A

Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the MFN2 gene.


benign mesenchymoma

A term describing a benign soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation.


hypotonia with lactic acidemia and hyperammonemia

This syndrome is characterised by severe hypotonia, lactic academia and congenital hyperammonaemia.


iris neoplasm

A neoplasm (disease) that involves the iris.


pseudohypoaldosteronism, type IB3, autosomal recessive


cardiovascular syphilis

A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries.


Charcot-Marie-Tooth disease type 4B2

Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported.


mitochondrial complex I deficiency, nuclear type


oculoosteocutaneous syndrome

A syndrome is characterised by congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive.


classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

The most common form of congenital adrenal hyperplasia (CAH), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia.


myotonic cataract

A cataract occurring as a sequela of myotonic dystrophy.


mucocutaneous leishmaniasis

The most common form of leishmaniasis that is transmitted through the bite of female phlebotomine sand flies or after exposure to leishmania parasites. It is characterized by skin lesions at the site of insect bite which typically develop within weeks or months after exposure. The lesions typically progress from small papules to open sores with raised borders and central ulcers which can be covered with scales or crust.


aphthous stomatitis

A recurrent disease of the oral mucosa of unknown etiology. It is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring.


autosomal recessive spinocerebellar ataxia 17

Any autosomal recessive congenital cerebellar ataxia in which the cause of the disease is a mutation in the CWF19L1 gene.


Alexander disease type I

Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration.


Moyamoya disease 2

Any Moyamoya disease in which the cause of the disease is a mutation in the RNF213 gene.


childhood germ cell tumor

A germ cell tumor that occurs during childhood.


partial monosomy of the short arm of chromosome 20


Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome is characterised by the association of demyelinating leukodystrophy with progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia.


cervical adenosarcoma

A rare malignant mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign epithelial elements.


autosomal recessive inherited pseudoxanthoma elasticum

An autosomal recessive form of PXE.


Yersinia infectious disease

Infections with bacteria of the genus yersinia.


familial cervical artery dissection

An instance of cervical artery dissection that is caused by an inherited modification of the individual's genome.


sympathetic nervous system disorder

A disease or disorder that involves the sympathetic nervous system.


combined oxidative phosphorylation deficiency 29

Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TXN2 gene.


acquired hypertrichosis lanuginosa

Acquired hypertrichosis lanuginosa is a rare cutaneous paraneoplastic disease characterized by the presence of excessive lanugo-type hair on the glabrous skin of face, neck, trunk and limbs that can be associated with additional clinical features such as burning glossitis, papillary hypertrophy of the tongue, diarrhea, dysgeusia, and/or weight loss. It is associated with lymphoma or cancer of the gastrointestinal system, urinary tract, lung, breast, uterus or ovary.


autosomal recessive proximal renal tubular acidosis

Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features.


intersphincteric abscess

An abscess contained between the internal and external anal sphincters.


osteosclerosis-ichthyosis-premature ovarian failure syndrome

This syndrome is characterised by sclerosing bone dysplasia, ichthyosis vulgaris and premature ovarian failure. The bone disorder affects all metaphyseal-diaphyseal regions of the long bones, the skull, and the metacarpals.


Ullrich congenital muscular dystrophy 2

Any Ullrich congenital muscular dystrophy in which the cause of the disease is a mutation in the COL12A1 gene.


cataract 28

A cataract that has material basis in variation in the region 6p12-q12.


GRID2-related autosomal dominant spinocerebellar ataxia


mitochondrial complex 1 deficiency, nuclear type 19


myotonia congenita, autosomal recessive

Autosomal recessive form of myotonia congenita.


Stargardt disease

Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion.


neurodegeneration with brain iron accumulation 6

COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.


chronic bilirubin encephalopathy

A rare neurologic disease characterized by the chronic consequences of bilirubin toxicity in the globus pallidus, sub-thalamic nuclei, and other brain regions, after exposure to high levels of unconjugated bilirubin in the neonatal period. Symptoms begin after the acute phase of bilirubin encephalopathy in the first year of life, evolve slowly over several years, and include mild to severe extrapyramidal disturbances (especially dystonia and athetosis), auditory neuropathy spectrum disorder, and oculomotor and dental abnormalities.


secondary polyarteritis nodosa

Secondary polyarteritis nodosa (PAN) is a rare serious form of PAN characterized by vasculitis in a background of viral infection, primarily with hepatitis B virus (HBV).


retinitis pigmentosa 29

A retinitis pigmentosa that has material basis in variation in the chromosome region 4q32-q34.


epididymis cancer

A primary or metastatic malignant neoplasm that affects the epididymis. Representative examples include primary epididymal adenocarcinoma and metastatic carcinoma to the epididymis arising from another anatomic site.


hereditary acrokeratotic poikiloderma, Weary type


uterine corpus cancer

A malignant neoplasm involving the body of uterus.


PNPLA6-related spastic paraplegia with or without ataxia

An autosomal recessive, multisystem condition caused by pathogenic variants of the PNPLA6 gene that characterized by peripheral neuropathy, cognitive impairment, lower limb spasticity, muscle weakness, and reduced vibration sense. Additional clinical features may include cerebellar ataxia, hypogonadism, growth hormone deficiency, and hypothyroidism.


cardiac anomalies - developmental delay - facial dysmorphism syndrome


cytokine receptor deficiency

A disease that has its basis in the disruption of cytokine receptor activity.


apperceptive agnosia

An agnosia that is a loss of the ability to distinguish visual shapes.


neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination


camptodactyly syndrome, Guadalajara type 3

Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone traveculae, cortical thickening of long bones and delayed bone age.


type I complement component 8 deficiency

Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8A gene.


eyelid cancer

A cancer that involves the eyelid.


ciliary dyskinesia with transposition of ciliary microtubules


Lassa fever

A viral hemorrhagic fever that is caused by the Lassa virus, which is transmitted by contact with infected rodents; it is characterized by fever, headache, malaise, myalgia, and hearing loss.


spinocerebellar ataxia, autosomal recessive 24

Any autosomal dominant cerebellar ataxia in which the cause of the disease is a mutation in the UBA5 gene.


chromosome 20 disorder

Chromosomal disorder in which chromosome 20 is affected.


human betaherpesvirus 5 infectious disease

A disease caused by infection with Human betaherpesvirus 5.


diastematomyelia

A rare congenital abnormality in which the spinal cord is split in half by fibrous or bony tissue. It may present as an isolated phenomenon or in association with spina bifida.


autosomal dominant nonsyndromic hearing loss 21

An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p24.1-p22.3.


acute leukemia of ambiguous lineage

An acute leukemia in which the blasts lack sufficient evidence to classify as myeloid or lymphoid or they have morphologic and/or immunophenotypic characteristics of both myeloid and lymphoid cells. (WHO, 2001)


Aland island eye disease

An X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia.


cholesterol-ester transfer protein deficiency


idiopathic central precocious puberty

Central precocious puberty for which no underlying cause can be identified.


leukoplakia of penis

A precancerous condition characterized by the presence of abnormal whitish areas on the glans or prepuce of the penis. Risk factors include chronic irritation, inflammation, and infection of the penis, and poor genital hygiene.


intellectual disability, autosomal dominant 14

Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1A gene.


endocervical type cervical adenomyoma

An adenomyoma that arises from the cervix and is characterized by the presence of endocervical mucinous glands and a smooth muscle cell component. There is no atypia or significant mitotic activity present.


chromosome 5Q14.3 deletion syndrome, distal


eccrine sweat gland hamartoma

A hamartoma characterized by localized eccrine sweat gland malformation.


muscular dystrophy, congenital, with rapid progression


RPE65-related recessive retinopathy

A retinopathy, which may include conditions described as retinitis pigmentosa and Leber congenital amaurosis, caused by biallelic variants in the RPE65 gene.


morbid obesity

An excess of body weight, normally defined as an individual with a body mass index greater than 35 or a body weight greater than one hundred percent of ideal body weight.


ovarian dysgenesis 2

Any primary ovarian failure in which the cause of the disease is a mutation in the BMP15 gene.


atypical hemolytic-uremic syndrome with C3 anomaly


tracheal lymphoma

A rare lymphoma that arises from the trachea. Signs and symptoms include dyspnea, cough, wheezing, and stridor.


46,XX disorder of sex development induced by endogenous maternal-derived androgen


Wiskott-Aldrich syndrome, autosomal dominant form


laryngeal granuloma

A tumor-like nodule or mass of inflammatory granulation tissue projecting into the lumen of the LARYNX.


hyper-IgE recurrent infection syndrome 5, autosomal recessive


glycogen storage disease I

Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b, and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver.


intravenous leiomyomatosis

A rare benign neoplasm characterized by the presence of smooth muscle cells growing within veins.


non-specific autoimmune brainstem encephalitis without characteristic antibodies


mitochondrial complex III deficiency nuclear type 3

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


testicular trophoblastic tumor

A tumor that arises from the testis and is composed of neoplastic trophoblastic cells. The vast majority of cases are choriocarcinomas.


well differentiated papillary mesothelioma

A localized or multifocal mesothelioma arising from the peritoneum and less often the pleura. Cases arising from the peritoneum predominantly occur in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to malignant mesothelioma.


acute myeloid leukemia, KIT exon 17 mutation

Any acute myeloid leukemia that has the chromosomal anomaly KIT exon 17 mutation. (A molecular genetic abnormality indicating the presence of a mutation in exon 17 of the KIT gene located within 4q11-q12.)


Plummer disease

Nodular enlargement of the thyroid gland associated with hyperthyroidism.


malignant tumor of neck

A cancer that involves the neck.


urogenital tuberculosis

A general term for mycobacterium infections of any part of the urogenital system in either the male or the female.


spastic paraplegia-glaucoma-intellectual disability syndrome

Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive.


immune epilepsy

Epilepsies that have a distinct immune-mediated etiology with evidence of central nervous system inflammation, that has been demonstrated to be associated with a substantially increased risk of developing epilepsy.


familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome