endometrial disorder

A non-neoplastic or neoplastic disorder that affects the endometrium. Representative examples include endometritis, endometrial hyperplasia, and endometrial carcinoma.


nerve plexus neoplasm

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

A neoplasm (disease) that involves the nerve plexus.


intellectual disability, X-linked 61

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


cerebellar atrophy, visual impairment, and psychomotor retardation;


autosomal recessive nonsyndromic hearing loss 67

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LHFPL5 gene.


distal 7q11.23 microdeletion syndrome

Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression).


12q15q21.1 microdeletion syndrome

12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated.


glaucoma-sleep apnea syndrome

Glaucoma-sleep apnea syndrome is characterized by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children).


gasserian ganglion meningioma

A meningioma that affects the trigeminal ganglion.


diabetes mellitus type 2 associated cataract

Diabetic cataracts are thought to be caused by hyperglycemia associated with disturbed glucose metabolism


rheumatic disease of mitral valve

A rheumatologic disorder that involves the mitral valve.


Perrault syndrome 1

Any Perrault syndrome in which the cause of the disease is a mutation in the HSD17B4 gene.


congenital thrombotic thrombocytopenic purpura

Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.


complement receptor deficiency

A disorder with basis in disruption of a complement receptor.


combined immunodeficiency due to CD3gamma deficiency

Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations.


hyperparathyroidism, primary, caused by water clear cell hyperplasia


Antley-Bixler syndrome

Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.


high pressure neurological syndrome

A syndrome related to increased atmospheric pressure and characterized by tremors, nausea, dizziness, decreased motor and mental performance, and seizures. This condition may occur in those who dive deeply (c. 1000 ft) usually while breathing a mixture of oxygen and helium. The condition is associated with a neuroexcitatory effect of helium.


aromatic L-amino acid decarboxylase deficiency

Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction.


borderline leprosy

A form of leprosy in which there are clinical manifestations of both principal types (lepromatous and tuberculoid). The disease may shift toward one of these two polar or principal forms.


testicular sex cord-stromal benign neoplasm

A sex cord-stromal benign neoplasm that arises from the testis.


pentasomy

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


hereditary spastic paraplegia 44

A very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein.


posterior cortical atrophy

Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities.


combined oxidative phosphorylation deficiency 43


inborn disorder of biogenic amine metabolism and transport


autosomal dominant sideroblastic anemia

Autosomal dominant form of sideroblastic anemia.


norovirus infectious disease

Infections caused by viruses of the genus in the family caliciviridae, which is associated with epidemic gastroenteritis in humans.


sialolithiasis

A concretion in the salivary gland.


hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency


Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet.


Charcot-Marie-Tooth disease axonal type 2V

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


pelvis-shoulder dysplasia

Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis.


syndromic retinitis pigmentosa

A retinitis pigmentosa that is part of a larger syndrome.


Lutembacher syndrome

A condition characterized by a combination of ostium secundum atrial septal defect and an acquired mitral valve stenosis.


benign lipomatous neoplasm

A benign mesenchymal neoplasm composed of adipose (fatty) tissue. The most common representative of this category is the lipoma.


febrile infection-related epilepsy syndrome

Febrile infection-related epilepsy syndrome (FIRES) describes an explosive-onset, potentially fatal acute epileptic encephalopathy that develops in previously healthy children and adolescents following the onset of a non-specific febrile illness.


Emery-Dreifuss-like muscular dystrophy

A rare inherited muscular dystrophy characterized by the coexistence of limb-girdle weakness and early-onset diffuse joint contractures without cardiomyopathy.


thrombophilia, X-linked, due to factor 8 defect


nephrolithiasis, X-linked recessive, with renal failure


Sheldon-hall syndrome

Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.


pre-descemet corneal dystrophy

Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision.


pigmented nodular adrenocortical disease, primary, 1

Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKAR1A gene.


inborn disorder of cobalamin metabolism and transport


acute myeloid leukemia with NPM1 somatic mutations

Acute myeloid leukemia with NPM1 somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts harboring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages. Patients usually present with leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy.


neurodevelopmental disorder with hyperkinetic movements and dyskinesia


Bartter disease type 4A

Any Bartter syndrome in which the cause of the disease is a mutation in the BSND gene.


hereditary ataxia

An instance of an atactic disorder that is caused by an inherited genomic modification in an individual.


bladder neck cancer

A malignant neoplasm involving the neck of urinary bladder.


atypical hemolytic-uremic syndrome with H factor anomaly


retinitis pigmentosa 77

Any retinitis pigmentosa in which the cause of the disease is a mutation in the REEP6 gene.


pure or complex autosomal dominant spastic paraplegia


penile urethral cancer

A urethra cancer that involves the penis.


indolent primary cutaneous B-cell lymphoma


autosomal dominant auditory neuropathy 1

Any auditory neuropathy in which the cause of the disease is a mutation in the DIAPH3 gene.


candidiasis, familial, 4

Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the CLEC7A gene.


congenital fiber-type disproportion myopathy

A rare genetic disorder caused by mutations in the TPM3, ACTA1, RYR1 or SEPN1 genes. It is inherited in an autosomal dominant or recessive pattern and rarely in an X-linked pattern. It manifests with myopathy throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Affected individuals may have contractures, lordosis, or scoliosis. In a minority of cases mild to severe breathing problems may occur.


neuronal ceroid lipofuscinosis 10

A rare condition that affects the nervous system. Signs and symptoms of the condition can develop any time from birth to adulthood and may include progressive dementia, seizures, lack of muscle coordination, and vision loss. CLN10-NCL is caused by changes (mutations) in the CTSD gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.


X-linked sideroblastic anemia 1

An inherited form of sideroblastic anemia.


bullous diffuse cutaneous mastocytosis

Bullous diffuse cutaneous mastocytosis (BDCM) is a form of diffuse cutaneous mastocytosis (DCM) characterized by generalized erythroderma and severe blistering associated with the accumulation of mast cells in the skin.


color agnosia

An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it.


non-specific autoimmune cerebellar ataxia with characteristic antibodies


tetrahydrobiopterin metabolic process disease

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


PSAP-related sphingolipidosis

A sphingolipidosis caused by variants in the PSAP gene. Clinical and biochemical features vary based on the location of variants within the gene and their molecular impact.


familial mitral valve prolapse

An instance of mitral valve prolapse (disease) that is caused by an inherited modification of the individual's genome.


desmoid tumor

A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential.


nasal cavity cancer

A malignant neoplasm involving the nasal cavity


Cooks syndrome

Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized.


Al Kaissi syndrome

Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by {1:Windpassinger et al., 2017}).


benign eyelid neoplasm

A non-metastasizing neoplasm that arises from the upper or lower eyelid.


epithelial predominant Wilms' tumor

Wilms tumor of the kidney characterized by the predominance of the epithelial component. The epithelial cells may form papillary and tubular patterns and pseudorosettes.


Hashimoto-Pritzker syndrome

Hashimoto-Pritzker histiocytosis (HPH) is a variant of Langerhans cell histiocytosis characterized by multiple disseminated skin lesions (firm, red-brown, painless papulo-nodules).


Adams-Oliver syndrome 2

Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DOCK6 gene.


non-distal trisomy 13q

Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (incl. microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated.


mucopolysaccharidosis type 9

An autosomal recessive lysosomal storage disease caused by mutation(s) in the HYAL1 gene, encoding hyaluronidase-1. It is characterized by short stature and hyaluronidase deficiency.


aquagenic pruritus

Aquagenic pruritus is a conditionin which contact with water of any temperature causes intense itching, without any visible skin changes. The symptoms may begin immediately after contact and can last for an hour or more. The cause of aquagenic pruritus is unknown; however, familial cases have been described. It may be a symptom of polycythemia vera or another underlying condition. Overall, treatment is a challenge. Antihistamines, UVB phototherapy, PUVA therapy and various medications have been tried with varying degrees of success.


X-linked cerebellar ataxia

X-linked form of cerebellar ataxia.


limbic encephalitis associated with antibodies to cell membrane antigens


cortisone reductase deficiency 1

Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency.


lissencephaly with cerebellar hypoplasia type C

Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death.


alopecia - intellectual disability syndrome

An extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.


autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome


hypogonadotropic hypogonadism 26 with or without anosmia


myopathy, congenital proximal, with minicore lesions


circadian rhythm sleep disorder, jet lag type

A circadian sleep disorder that results from travelling across time zones.


erythroleukemia

An acute erythroid leukemia characterised by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow.


intellectual disability, autosomal dominant 11

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EPB41L1 gene.


gastrointestinal tularemia

A tularemia that results in formation of ulcerative lesions located in gastrointestinal tract. The infection has symptom fever, has symptom chills, has symptom malaise, has symptom muscle aches, and has symptom vomiting.


partial deletion of the long arm of chromosome 14

Chromosome 14q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 14.


Ehlers-Danlos syndrome, spondylodysplastic type

A form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.


congenital Epstein-Barr virus infection

Congenital Epstein-Barr virus (EBV) infection causes no clinical manifestations in the majority of infants. Indeed, the occurrence of congenital infection with EBV has never been demonstrated conclusively and must be very rare. One case have been reported to present after birth, multiple congenital anomalies (micrognathia, cryptorchidism, central cataracts), dystrophy, generalized hypotonia, hepatosplenomegaly, diffuse petechiae and hematomas and multiple areas of metaphysitis of the long bones at birth. A low birth weight was also reported. No specific follow-up of the fetus is recommended following maternal EBV primary-infection.


non-classic congenital lipoid adrenal hyperplasia due to STAR deficency


acquired night blindness

An instance of night blindness that is acquired during the lifetime of the individual.


autosomal recessive nonsyndromic hearing loss 14

An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S554 and D7S2459 in the chromosome region 7q31.


microcephaly 7, primary, autosomal recessive

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


short-limb skeletal dysplasia with severe combined immunodeficiency

Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.


hereditary motor neuron disease

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


anterior horn disorder

Anterior horn disease is one of a number of medical disorders affecting the anterior horn of the spinal cord. Anterior horn diseases include spinal muscular atrophy, poliomyelitis and amyotrophic lateral sclerosis.


B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)

A precursor lymphoid neoplasm which is composed of B-lymphoblasts and carries a translocation between the MLL (KMT2A) gene at 11q23.3 and another gene partner resulting in the production of an MLL related fusion protein.


fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3

Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.


neurodevelopmental disorder with or without early-onset generalized epilepsy


Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency

A rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the <i>CYP11A1</i> gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels.


Mitochondrial complex IV deficiency, nuclear type 23


angiosarcoma of the scalp

Angiosarcoma of the scalp is a rare cancer which most commonly affects the elderly. This condition is characterized by bruise-like lesions that escalate to elevated, nodular, or ulcerated tumors. Extensive local growth is common and metastasis to regional lymph nodes and to the lungs may occur. The cause of angiosarcoma of the scalp is unknown, although several associations have been reported, including lymphedema, prior radiation treatment, and environmental exposures. Treatment may include surgery, radiation and chemotherapy.


A syndrome that combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation.


intellectual developmental disorder, autosomal recessive 72


congenital muscular dystrophy due to LMNA mutation

Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported.


isolated hereditary congenital facial paralysis

Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal.


classic Kaposi sarcoma

A vascular sarcoma that commonly occurs in the lower extremities. It occurs predominantly in elderly male patients of southern European ancestry. It is characterized by the presence of purple, red-blue, or dark brown macular lesions, plaques and nodules. This disease is usually slow growing, although it can spread to the lungs and the gastrointestinal tract. If necessary, cutaneous lesions can be treated with radiation.


striatal degeneration, autosomal dominant

An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity.


Perrault syndrome 2

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


neuromyelitis optica spectrum disorder with anti-MOG antibodies


multiple paragangliomas associated with polycythemia


Charcot-Marie-Tooth disease type 2E

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


cor triatriatum sinister

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


argyria

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


congenital heart malformation

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


mal de Meleda

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


sulfhemoglobinemia

A morbid condition due to the presence of sulfmethemoglobin in the blood. It is marked by persistent cyanosis, but the blood count does not reveal any special abnormality in the blood. It is thought to be caused by the action of hydrogen sulfide absorbed from the intestine. (Stedman, 25th ed)


corneal endothelial dystrophy

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


MEGF8-related Carpenter syndrome

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


intracranial arteriosclerosis

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


spondyloepiphyseal dysplasia, Reardon type

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


prostate leiomyoma

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


familial congenital palsy of trochlear nerve

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


pituitary hormone deficiency, combined, 1

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


microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type

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


neurodevelopmental disorder with hypotonia and dysmorphic facies


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


neonatal leukemia

Leukemia that occurs during the neonatal period.


Leber congenital amaurosis

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


distal trisomy 13q

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


acute tricyclic antidepressant poisoning

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


leukemia, acute, X-linked

X-linked form of acute leukemia


granular corneal dystrophy type II

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


Krabbe disease due to saposin A deficiency


Farber lipogranulomatosis

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


adult-onset distal myopathy due to VCP mutation

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


retinitis pigmentosa 12

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


congenital disorder of glycosylation type I

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


secondary trimethylaminuria

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


immunodeficiency 19

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


North Carolina macular dystrophy

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


9q21.13 microdeletion syndrome

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


fibrosarcomatous osteosarcoma

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


intellectual disability, X-linked syndromic, Turner type

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


Langerhans cell sarcoma

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


pigmented spindle cell nevus

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


pyruvate metabolism disorder

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


congenital pulmonary lymphangiectasia

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


Say-Barber-Miller syndrome

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


congenital disorder of glycosylation, type Iw, autosomal dominant


progressive scapulohumeroperoneal distal myopathy


screw worm infectious disease

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


radioulnar synostosis-developmental delay-hypotonia syndrome

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


autosomal anomaly

Chromosomal disorder in which the chromosomal anomaly involves an autosome.


inherited neurodegenerative disorder

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


IVIC syndrome

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


respiratory system benign neoplasm

A benign neoplasm that involves the respiratory system.


split hand-foot malformation 2

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


methylcobalamin deficiency type cblE

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


superficial Fibromatosis

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


neurodevelopmental disorder with seizures and gingival overgrowth


choroidal dystrophy, central areolar, 1

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


trochlear nerve disorder

A disease involving the trochlear nerve.


neurotic depression

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


Morvan syndrome

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


atrial conduction disease

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


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


osteosclerotic plasma cell myeloma

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


Angelman syndrome due to maternal 15q11q13 deletion


disorder of polyamine metabolism

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


Aicardi-Goutieres syndrome

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


ciliary discoordination due to random ciliary orientation


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


mitochondrial complex 2 deficiency, nuclear type 2


Ross river fever

A disease caused by infection with Ross River virus.


aromatase excess syndrome

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


childhood intracortical osteosarcoma

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


hereditary sensory and autonomic neuropathy type 5

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


ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia

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


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


progressive familial heart block

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


schizophrenia 12

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


secondary glomerular disease

Secondary glomerular diseases are conditions with glomerular pathology in which an underlying cause can be established.


malignant ovarian cyst

A cystic cancerous tumor arising from the ovary.


amyotrophic neuralgia

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


periventricular nodular heterotopia 7

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


Charlevoix-Saguenay spastic ataxia

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


primary antiphospholipid syndrome

An antiphospholipid syndrome that occurs as an isolated disorder.


Desbuquois dysplasia 1

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


mitochondrial complex 1 deficiency, nuclear type 37


Mitochondrial complex IV deficiency, nuclear type 22


acromelic frontonasal dysostosis

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


omodysplasia

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


acute myeloid leukemia, der12p

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


foix chavany Marie syndrome

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


TPM4-related platelet disorder

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


superficial mycosis

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


cardiovirus infectious disease

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


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

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


pontocerebellar hypoplasia type 4

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


tactile agnosia

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


premature ovarian failure 8

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


tinea favosa

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


combined oxidative phosphorylation defect type 13

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


acquired angioedema with C1Inh deficiency


amusia

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


Leber congenital amaurosis 4

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


intellectual disability, autosomal recessive 47

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


syphilitic aortitis

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


dyskeratosis congenita, autosomal dominant 2

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


distal trisomy 20q

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


butterfly-shaped pigment dystrophy

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


Senior-Boichis syndrome

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


neonatal iodine exposure

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


platelet-type bleeding disorder 10

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


neurodevelopmental disorder with neuromuscular and skeletal abnormalities


immunodeficiency 94 with autoinflammation and dysmorphic facies


paroxysmal familial ventricular fibrillation

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


NYX-related retinopathy

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


hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome


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


pyrimidine metabolism disease

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


disorder of lysosomal-related organelles


retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

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


myostatin-related muscle hypertrophy

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


autosomal semi-dominant severe lipodystrophic laminopathy


Beemer-Langer syndrome

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


vascular bone neoplasm

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


congenital disorder of glycosylation, type ICC


anti-HLA hyperimmunization

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


Senior-Loken syndrome 7

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


Charcot-Marie-Tooth disease, dominant intermediate G


myoclonus, familial, 2

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


pyruvate kinase hyperactivity

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


galactosialidosis

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


clivus chordoma

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


sporadic amyotrophic lateral sclerosis

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


autosomal dominant titinopathy

Autosomal dominant form of TTN-related myopathy.


Dent disease

Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction.


fibroepithelial polyp

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


gas gangrene

A severe condition resulting from bacteria invading healthy muscle from adjacent traumatized muscle or soft tissue. The infection originates in a wound contaminated with bacteria of the genus clostridium. C. perfringens accounts for the majority of cases (over eighty percent), while C. noyvi, C. septicum, and C. histolyticum cause most of the other cases.


autosomal recessive spastic ataxia

Autosomal recessive form of spastic ataxia.


blepharophimosis-ptosis-epicanthus inversus syndrome plus


Murray valley encephalitis

An disease caused by infection with Murray Valley encephalitis virus.


severe combined immunodeficiency due to CARD11 deficiency

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


paramedian nasal cleft

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


EYS-related retinopathy

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


ichthyosis, X-linked, without steroid sulfatase deficiency


fournier gangrene

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


Alzheimer disease 10

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


benign infantile focal epilepsy with midline spikes and wave during sleep

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


Woodhouse-Sakati syndrome

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


pili bifurcati

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


maternal uniparental disomy of chromosome 14

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


autosomal recessive limb-girdle muscular dystrophy type 2R1

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


phakomatosis pigmentokeratotica

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


intellectual disability, X-linked 91

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


congenital absence of both forearm and hand, unilateral

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


Trichomonas tenax infectious disease

An disease or disorder caused by infection with Trichomonas tenax.


ulnar neuropathy

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


autosomal recessive cerebellar ataxia-saccadic intrusion syndrome

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


glossopharyngeal nerve neoplasm

A neoplasm involving a glossopharyngeal nerve.


pseudohypoaldosteronism type 1

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


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


retinitis pigmentosa 56

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


immunodeficiency, common variable, 10

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


Charcot-Marie-Tooth disease axonal type 2O

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


neurodevelopmental disorder with speech impairment and with or without seizures


ring chromosome 2

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


holoprosencephaly 11

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


angioid streaks of choroid

A angioid streaks that involves the optic choroid.


benign neoplasm of cerebrum

A benign neoplasm that involves the telencephalon.


foramen magnum meningioma

A meningioma that affects the foramen magnum.


Leber hereditary optic neuropathy, autosomal recessive


pregnancy associated osteoporosis

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


paroxysmal extreme pain disorder

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


systolic heart failure

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


supraglottis neoplasm

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


acquired metabolic disease

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


ovarian ectopic pregnancy

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


retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene


mitochondrial DNA depletion syndrome 8a

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


oculodentodigital dysplasia

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


familial amyotrophic lateral sclerosis

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


hereditary progressive mucinous histiocytosis

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


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


neonatal sepsis

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


taurodontia-absent teeth-sparse hair syndrome

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


urinary bladder tuberculosis

A tuberculosis that involves the urinary bladder.


congenital pseudoarthrosis of the tibia

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


lingual goiter

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


Coronaviridae infectious disease

Virus diseases caused by coronaviridae.


primary ciliary dyskinesia 15

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


GATA1-Related X-Linked Cytopenia

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


partial trisomy of the long arm of chromosome 5

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


Perrault syndrome 4

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


xeroderma pigmentosum, type G/cockayne syndrome


genetic epidermal appendage anomaly

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


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


juvenile idiopathic inflammatory myopathy


hemophagocytic lymphohistiocytosis due to RhoG deficiency

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


hyperekplexia 1

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


mitochondrial complex 1 deficiency, nuclear type 31


mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy


anaplastic cancer

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


leukodystrophy, hypomyelinating, 19, transient infantile


intellectual developmental disorder, autosomal recessive 78


intellectual disability, X-linked 45

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


familial temporal lobe epilepsy syndrome

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


bone angiosarcoma

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


vestibulocochlear nerve neoplasm

A neoplasm (disease) that involves the vestibulocochlear nerve.


uterine inversion

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


mitochondrial DNA depletion syndrome, encephalomyopathic form

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


neuronal ceroid lipofuscinosis 3

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


sensory ataxia

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


microcephaly 17, primary, autosomal recessive

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


autosomal dominant hypophosphatemic rickets

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


prepuce cancer

A malignant neoplasm involving the prepuce.


torsion dystonia 6

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


autosomal recessive nonsyndromic hearing loss 84B

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


sporadic Creutzfeld Jacob disease

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


late-adult onset retinitis pigmentosa

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


non-herpetic acute limbic encephalitis

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


tubal pregnancy

An abnormal pregnancy in which the conception is implanted in the fallopian tube.


kidney angiomyolipoma

An angiomyolipoma arising from the kidney.


porokeratotic eccrine ostial and dermal duct nevus

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


Leigh syndrome

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


corpus callosum dysgenesis X-linked recessive


immunodeficiency 105

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


Stankiewicz-Isidor syndrome

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


mitochondrial DNA depletion syndrome 20 (mngie type)


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


An embryonal rhabdomyosarcoma located in the parameningeal region.


photosensitive occipital lobe epilepsy

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


miliaria crystallina

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


myoclonic epilepsy in non-progressive encephalopathies

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


breast implant-associated anaplastic large cell lymphoma


chronic mast cell leukemia

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


microphthalmia with brain and digit anomalies

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


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3

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


distal trisomy 3p

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


cone-rod dystrophy 3

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


lower lip fistula

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


Seckel syndrome 10

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


testicular leukemia

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


hypothyroidism, congenital, nongoitrous, 8


inborn disorder of ornithine, proline and hydroxyproline metabolism

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


hereditary renal hypouricemia

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


spondyloepiphyseal dysplasia, Kimberley type

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


cholesteryl ester storage disease

Cholesteryl ester storage disease (CESD) is a very rare, late-onset, genetic endocrine disease characterized by deficient or inactive lysosomal acid lipase (LAL) causing lipid build-up, which leads to atherosclerosis, hepatomegaly, splenomegaly, progressive liver disease, and malabsorption.


brachial plexus neuritis

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


univentricular heart with single atrio-ventricular valve


autosomal dominant Robinow syndrome 1

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


autosomal dominant disease

Autosomal dominant form of disease.


congenital epulis

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


cerebellar ataxia and hypergonadotropic hypogonadism


AREDYLD syndrome

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


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


Young syndrome

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


central nervous system cystic malformation


autosomal recessive spastic paraplegia type 66


supratentorial meningioma

A meningioma that affects the supratentorial brain.


choroidal dystrophy, central areolar 2

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


retinitis pigmentosa 39

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


congenital disorder of glycosylation, type IIy


West-Nile encephalitis

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


Japanese encephalitis

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


melanocytic skin neoplasm

A melanocytic neoplasm that involves the zone of skin.


disorder of orbital region

A disease that involves the orbital region.


sialidosis

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


methemoglobinemia type 4

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


bacterial exanthem

A bacteria-induced exanthem


retinitis pigmentosa 76

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


pituitary hormone deficiency, combined, 2

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


mycotoxicosis

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


beta-ureidopropionase deficiency

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


chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation


congenital cerebellar ataxia due to RNU12 mutation

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


refractory hematologic cancer

A hematologic malignancy that is resistant to treatment.


multifocal osteogenic sarcoma

A primary bone osteosarcoma affecting multiple bone sites.


facial dermoid cyst

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


trypanosomiasis

Infection with protozoa of the genus trypanosoma.


tooth agenesis, selective, 4

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


RLBP1-related retinopathy

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


von Willebrand disease type 2M

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


barbiturate abuse

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


An electroclinical syndrome with onset in adolescence and adulthood.


autoimmune urticaria

An autoimmune form of urticaria (disease).


aspergillus niger infection

A infectious disease involving the Aspergillus niger.


neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures


mesomelic dwarfism-cleft palate-camptodactyly syndrome

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


oculootodental syndrome

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


malignant Leydig cell tumor

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


actinic lichen planus

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


inflammatory liposarcoma

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


Warburg micro syndrome 4

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


dentatorubral-pallidoluysian atrophy

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


abdominal tuberculosis

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


Usher syndrome type 1J

Any Usher syndrome in which the cause of the disease is a mutation in the CIB2 gene.


hematohidrosis

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


qualitative or quantitative defects of calpain


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


posterior cranial fossa meningioma

A meningioma that affects the posterior cranial fossa.


genetic sebaceous gland anomaly

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


disorder of visual system

A disease that involves the visual system.


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


overhydrated hereditary stomatocytosis

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


congenital pericardium anomaly

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


renal hypomagnesemia 3

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


anosmia, isolated congenital, X-linked

X-linked form of anosmia, isolated congenital.


posterior polymorphous corneal dystrophy 3

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


vesicoureteral reflux 3

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


Ehlers-Danlos syndrome, fibronectinemic type

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


46,XX sex reversal 1

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


Seckel syndrome 8

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


lung agenesis-heart defect-thumb anomalies syndrome

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


juvenile dermatomyositis

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


pulmonary hypertension, primary, 2

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


atrial septal defect 4

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


lissencephaly due to TUBA1A mutation

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


epidermolysis bullosa simplex 2A, generalized severe


TMEM165-congenital disorder of glycosylation

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


cancer-associated retinopathy

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


striatal degeneration, autosomal dominant 2

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


primary coenzyme Q10 deficiency 8

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


wound botulism

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


pityriasis lichenoides

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


thanatophoric dysplasia, Glasgow variant


parkinsonism-dystonia, infantile

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


congenital primary megaureter

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


autosomal recessive nonsyndromic hearing loss 17

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


coccygodynia

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


Charlie M syndrome

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


Usher syndrome type 1C

A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding harmonin on chromosome 11p15. It is inherited in an autosomal recessive manner.


milker's nodule

Virus diseases caused by the poxviridae.


glottis cancer

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


acquired purpura fulminans

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


idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance


clonorchiasis

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


Zimmermann-Laband syndrome 1

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


autosomal recessive lower motor neuron disease with childhood onset

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


Charcot-Marie-Tooth disease, Guadalajara neuronal type


partial duplication of the short arm of chromosome 7

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


neurodegeneration with brain iron accumulation 2B


atelosteogenesis type III

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