hereditary spherocytosis type 1

Any hereditary spherocytosis in which the cause of the disease is a mutation in the ANK1 gene.


achromatopsia 4

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

Any achromatopsia in which the cause of the disease is a mutation in the GNAT2 gene.


inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation


osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome

Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome is characterized by osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two sibs born to consanguineous parents.


partial duplication of the short arm of chromosome 2

Chromosome 2p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2p 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.


leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome

Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward.


familial cold autoinflammatory syndrome 3

A rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease.


Bazex-Dupre-Christol syndrome

Bazex-Dupre-Christol syndrome is a rare genodermatosis (hereditary skin disease) with a predisposition to early-onset basal cell carcinomas.


ankyloblepharon filiforme-imperforate anus syndrome

An extremely rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993.


mesenteric varices

A varicose disease that involves the mesentery.


acute asthma

An asthma that is characterized by severe and sudden onset of increasing wheezing, airways closing, smooth muscle contraction, mucus plugging and lower airway edema that may be reversible upon treatment.


hemorrhagic fever-renal syndrome

Hemorrhagic fever with renal syndrome (HFRS) is a rodent-borne potentially severe hemorrhagic disease caused by Old World Hantaviruses characterized by high fever, malaise, headache, myalgia, arthralgia, backache, abdominal pain, oliguria/renal failure and systemic hemorrhagic manifestations.


childhood extraosseous osteosarcoma

An osteosarcoma arising from the soft tissue, and occurring during childhood.


syndromic recessive X-linked ichthyosis

Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI that are associated with extracutaneous manifestations as part of a syndrome.


epithelioid leiomyosarcoma

A morphologic variant of leiomyosarcoma characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm.


myotonia permanens

Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM).


thyroid lymphoma

A lymphoma primarily involving the thyroid gland.


cerebrooculofacioskeletal syndrome 2

Any COFS syndrome in which the cause of the disease is a mutation in the ERCC2 gene.


neuromuscular junction disease

Conditions characterized by impaired transmission of impulses at the neuromuscular junction. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or acetylcholinesterase activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions.


lichen amyloidosis

Lichen amyloidosis is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by the development of pruritic, often pigmented, hyperkeratotic papules on trunk and extremities, especially on the shins, and histologically by the deposition of amyloid or amyloid-like proteins in the papillary dermis.


neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures


complex cortical dysplasia with other brain malformations 6

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


alpha-thalassemia-related diseases

This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS).*


mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis

Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.


Sotos syndrome 3

Any Sotos syndrome in which the cause of the disease is a mutation in the APC2 gene.


hyperinsulinemic hypoglycemia, familial, 1

Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the ABCC8 gene.


spondylometaphyseal dysplasia, Sedaghatian type

Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.


hyperinsulinemic hypoglycemia

An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the pancreas and congenital hyperinsulinism. It is due to focal hyperplasia of pancreatic islet cells budding off from the ductal structures and forming new islets of langerhans. Mutations in the islet cells involve the potassium channel gene kcnj11 or the atp-binding cassette transporter gene abcc8, both on chromosome 11.


mitochondrial complex III deficiency nuclear type 2

Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the TTC19 gene.


metaphyseal dysplasia without hypotrichosis


viral hemorrhagic fever

A viral infectious disease caused by RNA viruses in the Arenaviridae, Bunyaviridae, Filoviridae, or Flaviviridae family, and characterized by a severe multisystem syndrome, with damage to the vascular system and hemorrhaging.


Cole-Carpenter syndrome 2

Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the SEC24D gene.


B-lymphoblastic leukemia/lymphoma with IL3-IGH

A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14, (q31.1;q32.3).


mitochondrial complex 4 deficiency, nuclear type 16


Usher syndrome type 1D

A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding cadherin-23 (CDH23) on chromosome 10q22. It is inherited in an autosomal recessive manner.


encephalopathy due to sulfite oxidase deficiency

Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation.


dihydropteridine reductase deficiency

Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties.


non-severe combined immunodeficiency due to COPG1 deficiency

Any non-severe combined immunodeficiency caused by a deficiency in the COPG1 gene.


cone-rod dystrophy 7

Any cone-rod dystrophy in which the cause of the disease is a mutation in the RIMS1 gene.


patterned macular dystrophy 2

Any patterned macular dystrophy in which the cause of the disease is a mutation in the CTNNA1 gene.


perceptual disorders

Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body.


adenosine kinase deficiency

A rare inborn error of metabolism characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.


tuberculosis, spinal

Tuberculosis of the vertebrae.


Senior-Loken syndrome 4

Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP4 gene.


congenital trigeminal anesthesia

Congenital trigeminal anesthesia is a rare neuro-ophtalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum).


vitelliform macular dystrophy 3

Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene.


non-distal trisomy 10q

Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (incl. microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (e.g. iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (e.g. septal ventricular defect), anal atresia, and cryptorchidism.


dirofilariasis

Infection with nematodes of the genus dirofilaria, usually in animals, especially dogs, but occasionally in humans.


neuronal ceroid lipofuscinosis 1

A condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.


neurodevelopmental disorder with dysmorphic facies and distal limb anomalies


X-linked cone dysfunction syndrome with myopia is characterised by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28.


immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia


benign neoplasm of retina

A benign neoplasm that involves the retina.


glutathione synthetase deficiency with 5-oxoprolinuria


acquired thrombocytopenia

An instance of thrombocytopenia that is acquired during the lifetime of the individual.


monocytopenia with susceptibility to infections


midbrain disorder

A disease or disorder that involves the midbrain.


infectious disorder of the nervous system

A infectious disease that involves the nervous system.


P5CS deficiency

An inborn error of proline/orinthine metabolism that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene. These variants lead to a variety of neurocutaneous and motor syndromes characterized by cutis laxa, connective tissue weakness, facial dysmorphism, growth restriction, developmental delay, cataracts, hypotonia, hypertonia, and amyotrophy.


frontal lobe neoplasm

A neoplasm involving a frontal lobe.


autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency

A somatic mutation in the CTLA4 gene resulting in only a single functional gene. Haploinsufficiency for CTLA4 is associated with autoimmune lymphoproliferative syndrome, type V.


Goldmann-Favre syndrome

A vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis).


spinocerebellar ataxia type 12

Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported.


autosomal dominant nonsyndromic hearing loss 58

An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p21-p12.


resistant hypertension

A severe medical condition which is estimated to appear in 9-18% of hypertensive patients, in which treatement with 3 or more antihypertensive drugs including diuretics are ineffective.


immune deficiency due to impaired neutrophil phagocytosis and migration


Bolivian hemorrhagic fever

Bolivian hemorrhagic fever (BHF), caused by the Machupo virus (MACV), is a severe acute viral hemorrhagic fever characterized by fever, myalgia, and arthralgia followed by hemorrhagic and neurological manifestations.


thyroid malformation

An anatomic abnormality of the thyroid gland.


partial trisomy of the long arm of chromosome 9


endometrium neoplasm

A neoplasm (disease) that involves the endometrium.


Leber congenital amaurosis 17

Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GDF6 gene.


familial scaphocephaly syndrome, McGillivray type

Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.


autosomal dominant progressive nephropathy with hypertension


phalangeal microgeodic syndrome

Phalangeal microgeodic syndrome is a rare primary osteolysis characterized by multiple small osteolytic areas and sclerosis in the phalanges of one or both hands associated with swelling and redness of the phalanges. Condition is benign, self-limited and may be associated with cold exposure.


intellectual disability, autosomal recessive 66


Mayer-Rokitansky-Kuster-Hauser syndrome type 1

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome, is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females.


gonococcal iridocyclitis

An iridocyclitis (disease) caused by infection with Neisseria gonorrhoeae.


cataract 45

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the SIPA1L3 gene.


Argentine hemorrhagic fever

Argentine hemorrhagic fever (AHF), caused by the Junin virus (JUNV), is an acute viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms and in some cases hemorrhagic and neurological manifestations.


Alzheimer disease 3

Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene.


mixed liposarcoma

A malignant neoplasm characterized by the presence of a combination of liposarcomatous morphologic subtypes: myxoid/round cell and well differentiated/dedifferentiated liposarcoma or myxoid/round cell and pleomorphic liposarcoma.


ichthyosis, congenital, autosomal recessive 14


protozoa infectious disease

An infection that is caused by protozoans.


citrin deficiency

Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency).


acquired generalized lipodystrophy

Acquired generalized lipodystrophy belongs to a group of lipodystrophic syndromes characterized by loss of adipose tissue, and is a syndrome of insulin resistance that leads to increased cardiovascular risk. Acquired generalized lipodystrophy is related to a selective loss of subcutaneous adipose tissue occurring exclusively at the extremities (face, legs, arms, palms and sometimes soles).


glans penis cancer

A malignant neoplasm involving the glans penis.


severe spondylodysplastic dysplasia

An instance of spondylodysplastic dysplasia that has a high degree of severity.


periodic limb movement disorder

Excessive periodic leg movements during sleep that cause micro-arousals and interfere with the maintenance of sleep. This condition induces a state of relative sleep deprivation which manifests as excessive daytime hypersomnolence. The movements are characterized by repetitive contractions of the tibialis anterior muscle, extension of the toe, and intermittent flexion of the hip, knee and ankle. (Adams et al., Principles of Neurology, 6th ed, p387)


retinitis pigmentosa 13

Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF8 gene.


neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus


Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait.


chromosome 12p deletion

A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 12.


congenital myopathy with internal nuclei and atypical cores

Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients.


microcephaly 20, primary, autosomal recessive


intellectual disability, autosomal recessive 31


rhabdoid meningioma

A WHO grade III meningioma characterized by the predominant presence of rhabdoid cells forming sheets.


black piedra

A superficial mycosis that is caused by Piedraia hortae and is manifested by a small firm black nodule involving the hair shaft.


urothelial hyperplasia

Hyperplasia of the transitional epithelium of the urinary tract. Morphologically it is subdivided into flat and papillary hyperplasia. -- 2003


EMILIN-1-related connective tissue disease


white forelock with malformations

White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980.


Venezuelan hemorrhagic fever

Venezuelan hemorrhagic fever (VHF), caused by the Guanarito virus, is a viral hemorrhagic disease characterized by fever, headache, arthralgia, sore throat, convulsions, and hemorrhagic manifestations.


pulmonary amyloidosis

A rare hereditary amyloidosis that incorporates deposition of amyloid microfibril material in the lung parenchyma.


inborn disorder of branched-chain amino acid metabolism

An inherited metabolic disease that is has its basis in the disruption of branched-chain amino acid metabolic process.


complex hereditary spastic paraplegia

A hereditary spastic paraplegia that is part of a larger syndrome.


autosomal dominant nonsyndromic hearing loss 20

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the ACTG1 gene.


X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.


mitochondrial complex 1 deficiency, nuclear type 13


mosaic trisomy 22

Mosaic trisomy 22 isa chromosome disorder in which chromosome 22 is present three times, instead of the usual two times, in some cells of the body. The range and severity of the disorder can vary widely. Some of the features that have been associated with this conditioninclude growth delays,cognitive deficiencies, unequal developmentof the two sides of the body (hemidystrophy), webbing of the neck, abnormal deviation of the elbows when extended (cubitus valgus), multiple pigmented moles or birthmarks, distinctive malformations of the head and face, and other physical abnormalities. A number of cases of children with mosaic trisomy 22 and normal growth and development have also been described.


marginal papular palmoplantar keratoderma


self-limited familial neonatal epilepsy

A neonatal/infantile epilepsy syndrome that is characterized by the onset of seizures that start in the in the neonate between day 1 and 7 of life and are often unilateral clonic events that recur and may alternate sides from seizure to seizure. Seizures can be repetitive over hours to days. Seizures remit by 4-6 months of age. A proportion of those affected may have seizures in later life. The child is expected to have typical developmental progress.


systemic monochloroacetate poisoning

Systemic monochloroacetate poisoning is a rare, life-threatening intoxication with monochloroacetic acid (mainly through the skin, but also by inhalation or ingestion). It is characterized by vomiting, diarrhea and central nervous system (CNS)-excitability (disorientation, delirium, convulsions) as early signs of systemic poisoning, followed by CNS-depression, coma and cerebral edema. Additional signs include heart involvement (severe myocardial depression, shock, arrhythmias, nonspecific myocardial damage), severe metabolic acidosis, hypokalemia, hypocalcemia and progressive renal failure leading to anuria. Myoglobinemia and leukocytosis may occur. Manifestations may be delayed for 1-4 hours.


sinoatrial node dysfunction and deafness

Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress.


dendritic cell sarcoma not otherwise specified


arthrogryposis, distal, with impaired proprioception and touch


primary bone lymphoma

A rare non-Hodgkin lymphoma or even more rarely, a Hodgkin lymphoma that arises from the bone, without lymph node or other extranodal involvement. The femur, spine, and pelvic bones are the most commonly affected sites. The majority of patients present with bone pain in the affected area. A single bone or multiple skeletal sites may be involved. The prognosis is related to the cell type and the stage of the disease.


acrodysostosis with multiple hormone resistance


Bruck syndrome

Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures.


childhood precursor T-lymphoblastic lymphoma/leukemia

A T lymphoblastic leukemia/lymphoma that occurs during childhood.


uterine cervix leukoplakia

The presence of whitish patches on the mucosal surface of the cervix. Histologic examination reveals hyperkeratosis. In a minority of cases, underlying dysplasia or carcinoma in situ is present.


hearing loss, autosomal dominant 34, with or without inflammation


congenital stationary night blindness autosomal dominant 3

A congenital stationary night blindness characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the GNAT1 gene on chromosome 3p21.


morning glory syndrome

Morning glory syndrome (MGS) is an optic neuropathy characterized by a congenital funnel shaped excavation of the posterior fundus that incorporates the optic disc malformation (resembling the morning glory flower) MGS is usually unilateral and may result in a decrease in best-corrected visual acuity (BCVA). MGS either occurs isolated or associated to other ocular or non-ocular anomalies.


testis sarcoma

A sarcoma that arises from the testis. The majority of cases arise from teratomas or spermatocytic seminomas.


autosomal dominant rhegmatogenous retinal detachment

Autosomal dominant form of rhegmatogenous retinal detachment.


polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG

Polyneuropathy associated with IgM monoclonal gammapathy (MG) with anti-MAG (myelin-associated-glycoprotein) activity is a demyelinating polyneuropathy characterized clinically by sensory ataxia, tremor, paresthesia, and impaired gait.


leishmaniasis, diffuse cutaneous

A form of LEISHMANIASIS, CUTANEOUS caused by Leishmania aethiopica in Ethiopia and Kenya, L. pifanoi in Venezuela, L. braziliensis in South America, and L. mexicana in Central America. This disease is characterized by massive dissemination of skin lesions without visceral involvement.


osteogenesis imperfecta type 4

Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI).


intermediate cell type ciliary body melanoma

Ciliary body melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells.


lymph node tuberculosis

Tuberculosis of the lymph node.


immunodeficiency 82 with systemic inflammation

A complex autosomal dominant immunologic disorder characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease. One of the more common features is inflammation of the stomach and bowel. Most patients develop symptoms in infancy or early childhood; the severity is variable. There may be accompanying fever, elevated white blood cell count, decreased B cells, hypogammaglobulinemia, increased C-reactive protein (CRP), and a generalized hyperinflammatory state. Immunologic workup shows variable B- and T-cell abnormalities such as skewed subgroups. Patients have a propensity for the development of lymphoma, usually in adulthood. At the molecular level, the disorder results from a gain-of-function mutation that leads to constitutive and enhanced activation of the intracellular inflammatory signaling pathway.


ocular siderosis

A hemosiderosis that involves the camera-type eye.


familial acute necrotizing encephalopathy

Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen.


vagina sarcoma

A malignant mesenchymal neoplasm that arises from the vagina. Representative examples include botryoid-type embryonal rhabdomyosarcoma, leiomyosarcoma, and endometrioid stromal sarcoma.


metaphyseal anadysplasia

Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed.


growth delay due to insulin-like growth factor I resistance

Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).


amyotrophic lateral sclerosis type 15

Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the UBQLN2 gene.


corneal dystrophy, posterior polymorphous, 4


communicating congenital bronchopulmonary-foregut malformation


acute idiopathic urticaria

Acute form of idiopathic urticaria.


lissencephaly 7 with cerebellar hypoplasia


dartoic leiomyoma

A cutaneous leiomyoma arising from the dartos muscle of the scrotum or labia majora.


punctate inner choroidopathy

A rare ophthalmic disorder characterized by typically bilateral, asymmetric, yellowish, punctate chorioretinal lesions of the posterior pole forming a linear branching pattern and progressing to atrophic scars. Subretinal neovascular membranes occur in many cases. Vitritis is always absent. Patients may present with blurred vision, scotoma, floaters, photopsia, and metamorphopsia. Choroidal neovascular membrane formation and subretinal fibrosis are the major causes of visual loss. The condition predominantly occurs in young myopic females.


congenital heart defects, multiple types, 8, with or without heterotaxy


19p13.3 microduplication syndrome

19p13.3 microduplication syndrome is a rare, genetic, syndromic intellectual disability characterized by intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability, and mild dysmorphic features.


premature ovarian failure 10

Premature ovarian failure-10 (POF10) represents a syndrome characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells.nnFor a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (OMIM:311360).nnFor a discussion of genetic heterogeneity of age at natural menopause, see MENOQ1 (OMIM:300488).


camptobrachydactyly

Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972.


congenital mitral valve agenesis

Mitral valve agenesis is a rare congenital heart malformation defined as an agenesis or severe hypoplasia of both mitral valve leaflets (complete agenesis) or one of the leaflets (partial agenesis). Complete mitral valve agenesis presents in the neonatal period with symptoms of severe mitral regurgitation and is rapidly fatal unless surgically treated. It is frequently associated with other heart malformations. Partial mitral valve agenesis may present at various ages, usually with symptoms of mitral regurgitation.


hemolytic anemia due to glutathione reductase deficiency

Haemolytic anaemia due to glutathione reductase (GSR) deficiency is characterised by nearly complete absence of GSR activity in erythrocytes.


muscular dystrophy-dystroglycanopathy, type C


neurosyphilis

Infection of the brain or spinal cord by Treponema pallidum. It occurs many years following the original infection which remained untreated. Signs and symptoms include abnormal gait, blindness, depression, paralysis, seizures and dementia.


overactive bladder

Symptom of overactive detrusor muscle of the urinary bladder that contracts with abnormally high frequency and urgency. Overactive bladder is characterized by the frequent feeling of needing to urinate during the day, during the night, or both. urinary incontinence may or may not be present.


orofaciodigital syndrome type 13

Orofaciodigital syndrome type 13 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (mitral and tricuspid valve dysplasia) and neuropsychiatric manifestations (epilepsy, depression), in addition to oral, facial and digital malformations (lingual hamartomas, cleft lip, and brachydactyly, clinodactyly, syndactyly of hands and feet). Leukoaraiosis, on brain MRI examination, is also associated.


staphylococcal toxic-shock syndrome

Staphylococcal toxic shock syndrome (staphylococcal TSS) is an acute disease mediated by the production of superantigenic toxins, characterized by high fever, skin rash followed by skin peeling, hypotension, vomiting, diarrhea and potentially leading to multisystem organ failure and caused by a Staphylococcus aureus bacterial infection.


immunodeficiency, common variable, 12

Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB1 gene.


mycobacterium xenopi infection

A disease caused by infection with Mycobacterium xenopi.


chronic closed-angle glaucoma

Chronic form of angle-closure glaucoma.


Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.


LAMA2-related muscular dystrophy

Any muscular dystrophy in which the cause of the disease is a mutation in the LAMA2 gene.


ring chromosome 17

Ring chromosome 17 syndrome is a rare chromosomal anomaly syndrome, resulting from partial deletion of chromosome 17, characterized by highly variable manifestations, ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), café-au-lait spots, retinal flecks and minor facial dysmorphism, depending on the presence or absence of the Miller-Dieker critical region.


syphilitic meningitis

An infectious meningitis caused by infection with Treponema.


malignant neoplasm of endocervix

A cancer that involves the endocervix.


Rickettsia helvetica spotted fever

A disease caused by infection with Rickettsia helvetica.


congenital hereditary endothelial dystrophy of cornea

A rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision.


Duane retraction syndrome 2

Any Duane retraction syndrome in which the cause of the disease is a mutation in the CHN1 gene.


immunodeficiency 93 and hypertrophic cardiomyopathy

An autosomal recessive disorder characterized by onset of recurrent viral and bacterial infections, particularly with encapsulated bacteria, and hypertrophic cardiomyopathy in the first months or years of life. Immunologic workup typically shows decreased circulating B cells and hypo- or agammaglobulinemia, sometimes with neutropenia or T-cell lymphocytosis, although laboratory findings may be variable among patients. Ig replacement therapy is beneficial. Cardiac involvement can also include atrial septal defect, valvular insufficiency, and pre-excitation syndrome. Rare myopathic or neurologic involvement has been reported, but these features are not consistently part of the disorder and may be related to other genetic defects.


Leber congenital amaurosis 3

Any Leber congenital amaurosis in which the cause of the disease is a mutation in the SPATA7 gene.


endemic typhus

A bacterial infection caused by Rickettsia typhi.


thymus lipoma

A well-circumscribed tumor of the thymus composed of islands of normal thymic parenchyma and mature adipose tissue. It is not clear if thymolipoma is a neoplastic or non-neoplastic lesion.


glucose metabolism disease

A metabolic disorder characterized by abnormal blood glucose levels.


hypoinsulinemic hypoglycemia and body hemihypertrophy


glycerol metabolism disease

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


Crigler-Najjar syndrome type 2

Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1.


nephronophthisis 18

Any nephronophthisis in which the cause of the disease is a mutation in the CEP83 gene.


junctional epidermolysis bullosa Herlitz type

Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes.


venous thoracic outlet syndrome

Venous thoracic outlet syndrome (VTOS) is a form of thoracic outlet syndrome (TOS) that manifests as unilateral (rarely bilateral) arm pain and cyanosis.


dihydropyrimidinuria

Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity.


injection anthrax

An anthrax disease that is characterized by infection at the injection site or deep under the skin or in the muscle where the drug was injected and is caused by heroin contaminated with anthrax spores.


vitamin B12- and folate-independent constitutional megaloblastic anemia


Akaba Hayasaka syndrome

A syndrome characterized by frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax, and rhizomelic micromelia.


phrynoderma

Phrynoderma is a form of follicular hyperkeratosis seen in young children and adolescents due to nutritional deficiencies. It is clinically characterized by discrete, follicular, skin-colored papules with keratotic plugs distributed over elbows, knees, extensor extremities, and buttocks.


isolated megalencephaly

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


pontocerebellar hypoplasia type 2C

Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN34 gene.


hereditary spastic paraplegia 43

Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported.


acinar dysplasia

A lethal, developmental lung malformation resulting in neonatal respiratory insufficiency. It is characterized by pulmonary hypoplasia and arrest in the pseudoglandular stage of development, resulting in the absence of functional gas exchange. It can be caused by mutations in FGF10, FGFR2 or TBX4.


PCARE-related retinopathy

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


dicarboxylic aminoaciduria

Dicarboxylicaminoaciduria is characterised by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit.


Charcot-Marie-Tooth disease axonal type 2U

Autosomal dominant Charcot-Marie-Tooth disease type 2U (CMT2U) is a subtype of autosonal dominant Charcot-Marie-Tooth disease type 2 characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated.


mitochondrial DNA maintenance syndrome

An inherited metabolic disease that is has its basis in the disruption of mitochondrial genome maintenance.


endometrioid stromal sarcoma of the cervix

A rare sarcoma that arises from the cervix. This category includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma.


mitochondrial DNA depletion syndrome 3 (hepatocerebral type)

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


X-linked intellectual disability, van Esch type

X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism.


MGAT2-congenital disorder of glycosylation

MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21).


lacrimal system cancer

A cancer that involves the lacrimal apparatus.


skin appendage disorder

A disease that involves the cutaneous appendage.


prostate sarcoma

A rare malignant soft tissue neoplasm that arises from the prostate gland. Representative examples include leiomyosarcoma, rhabdomyosarcoma, and stromal sarcoma.


congenital dyserythropoietic anemia type 1

Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis.


neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies


apical myocardial infarction

An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the apex of the heart.


chromosome inversion disorder

Chromosomal disorder consisting of the presence a chromosome rearrangement in which a segment has been turned through 180 degrees (inverted), and inserted back into its original location on the chromosome.


facial paresis, hereditary congenital, 2


neurodegeneration with brain iron accumulation 8


early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation

Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI.


pyruvate carboxylase deficiency, infantile form

Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course.


malignant germ cell tumor

A gonadal or extragonadal malignant neoplasm that arises from germ cells. Representative examples include embryonal carcinoma, yolk sac tumor, and seminoma.


sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy


benign neoplasm of epiglottis

A benign neoplasm that involves the epiglottis.


primary bone dysplasia with multiple joint dislocations


short stature-brachydactyly-obesity-global developmental delay syndrome


ichthyosis hystrix of Curth-Macklin

Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK).


developmental delay with autism spectrum disorder and gait instability

Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior.


classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form

The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency.


linear scleroderma

A type of localized scleroderma characterized by a long strip of indurated skin, which is typically found unilaterally on an arm or leg, and sometimes on the forehead or trunk. This disorder often affects the tissues beneath the skin, causing damage to bones, muscle or other organs. It can limit movement, alter growth, and disfigure the affected area.


hereditary spastic paraplegia 16

A hereditary spastic paraplegia that has material basis in variation in the chromosome region Xq11.2.


spinocerebellar ataxia, autosomal recessive, with axonal neuropathy


chorioamnionitis

A morphologic finding indicating inflammation of the fetal sac membranes. It is characterized by neutrophilic infiltration of the amnion and chorion.


hemolytic anemia due to erythrocyte adenosine deaminase overproduction

Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected.


PAGOD syndrome

PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies.


erythrocyte disorder

A disease or disorder that involves the erythrocyte.


sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

A molybdenum cofactor deficiency that has material basis in homozygous mutation in the GPHN gene on chromosome 14q23.


pituitary stalk meningioma

A meningioma that affects the pituitary stalk.


glucocorticoid-remediable aldosteronism

Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol.


parasitic ectoparasitic infectious disease

Infestations by parasites which live on, or burrow into, the surface of their host's epidermis. Most ectoparasites are arthropods.


Rafiq syndrome

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MAN1B1 gene.


intellectual disability, autosomal dominant 2

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DOCK8 gene.


combined oxidative phosphorylation defect type 24

Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the NARS2 gene.


autosomal recessive nonsyndromic hearing loss 47

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2p25.1-p24.3.


lymphoproliferative disease associated with primary immune disease


X-linked intellectual disability, Schimke type

X-linked mental retardation, Schimke type, is characterised by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked.


non-secretory plasma cell myeloma

A rare type of multiple myeloma in which the plasma cells synthesize but do not secrete immunoglobulins. As a result, none of the immunoglobulins appear out of the normal range. The symptoms are generally the same with those of immunoglobulin-secreting myeloma; however, the incidence of renal insufficiency is lower in non-secretory myeloma. The diagnosis can be missed because of the absence of monoclonal immunoglobulin in the serum or urine.


Alzheimer disease 16

An Alzheimer's disease that is characterized by an associated with a risk allele in in the PCDH11X gene on chromosome Xq21.3.


uterine body mixed cancer

A primary malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. This category includes carcinosarcoma, carcinofibroma, and adenosarcoma.


Charcot-Marie-Tooth disease axonal type 2F

Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop.


neuronopathy, distal hereditary motor, type 1

An autosomal dominant neurodegenerative disorder characterized by juvenile onset, distal motor weakness without sensory impairment, and anterior horn cell degeneration.


pontocerebellar hypoplasia type 7

Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.


primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma


mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5


intellectual disability, autosomal recessive 64


autosomal recessive nonsyndromic hearing loss 97

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


microcephalic primordial dwarfism, Alazami type

Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety.


schizoid personality disorder

A disorder characterized by an enduring pattern of extreme social detachment and lack of involvement in interpersonal activities, coupled with emotional coldness.


idiopathic panuveitis

Idiopathic panuveitis is a rare inflammatory eye disease, of unknown etiology, characterized by generalized inflammation of the uvea (iris, ciliary body, choroid), retina and vitreous with consequent ciliary spasm and posterior synechiae formation, leading to acute or chronic, unilateral or bilateral visual impairment and ocular discomfort or pain. Patients present an increased risk of development of cataracts, secondary glaucoma, cystoid macular edema and/or retinal detachment. It could potentially result in vision loss.


mitochondrial complex 4 deficiency, nuclear type 18


mixed phenotype acute leukemia, B/myeloid

An acute biphenotypic leukemia that is characterized by blasts which express B-lymphoid and myeloid lineage markers but are negative for MLL translocation and t(9;22)(q34;q11.2) translocation.


acute papillary necrosis

Acute form of kidney papillary necrosis.


primary immunodeficiency due to a genetic defect in innate immunity


partial deletion of the long arm of chromosome 21


X-linked intellectual disability-cerebellar hypoplasia syndrome

X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.


herpes simplex virus gingivostomatitis

Stomatitis caused by Herpesvirus hominis. It usually occurs as acute herpetic stomatitis (or gingivostomatitis), an oral manifestation of primary herpes simplex seen primarily in children and adolescents.


hereditary spastic paraplegia 27

A hereditary spastic paraplegia that has material basis in variation in the chromosome region 10q22.1-q24.1.


autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3.


intellectual disability, autosomal recessive 54

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


pleuro-pericardial cyst

Pleuro-pericardial cyst is a rare, mostly congenital, pericardium anomaly characterized by the presence of, usually asymptomatic, cysts which are typically located in the right costophrenic angle and are usually incidentally diagnosed. On occasion, it manifests with chest pain, dyspnea, tachycardia, persistent cough or cardiac arrhythmias. The condition is usually benign, but rare complications, such as cardiac tamponade, cardiogenic shock, mitral valve prolapse, hoarseness atrial fibrillation, right ventricular outflow, tract obstruction, spontaneous internal hemorrhage, pulmonary stenosis and sudden death, may occur.


bone dysplasia, Azouz type

Bone dysplasia Azouz type is a form of generalized enchondromatosis with involvement of the spine (so called spondyloenchondromatosis). Spondyloenchondromatosis is a very rare skeletal dysplasia characterized by severe platyspondyly, and mild involvement of hands and feet.


Ataxia-hypogonadism-choroidal dystrophy syndrome is a very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome.


Alzheimer disease without neurofibrillary tangles


Bernard-Soulier syndrome, type A2, autosomal dominant

A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has material basis in heterozygous mutations in the GP1BA gene on chromosome 17p.


childhood malignant kidney neoplasm

A malignant neoplasm that affects the kidney and occurs in childhood.


disorder of peptide and amine metabolism

An inherited metabolic disease that has its basis in the disruption of peptide and/or amine metabolic process.


erythrocytosis, familial, 5

Any familial polycythemia in which the cause of the disease is a mutation in the EPO gene.


sodium channelopathy-related small fiber neuropathy


late-onset focal dermal elastosis

Late-onset focal dermal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by a pseudoxanthoma elasticum-like papular eruption consisting of multiple, slowly progressive, asymptomatic, 2-5 mm, white to yellowish, non-follicular papules (that tend to form cobblestone plaques) predominantly distributed over the neck, axillae and flexural areas, with no systemic involvement. Skin biopsy reveals a focal increase of normal-appearing elastic tissue in the reticular dermis with no calcium deposits.


inherited thrombophilia

An instance of thrombophilia that is inherited.


vaginal leiomyoma

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


autosomal recessive nonsyndromic hearing loss 68

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the S1PR2 gene.


neuroschistosomiasis

Schistosomiasis of the brain, spinal cord, or meninges caused by infections with trematodes of the genus schistosoma (primarily schistosoma japonicum; schistosoma mansoni; and schistosoma haematobium in humans). S. japonicum infections of the nervous system may cause an acute meningoencephalitis or a chronic encephalopathy. S. mansoni and S. haematobium nervous system infections are associated with acute transverse myelitis involving the lower portions of the spinal cord. (From Joynt, Clinical Neurology, 1998, Ch27, pp61-2)


congenital stationary night blindness 1B

Any congenital stationary night blindness in which the cause of the disease is a mutation in the GRM6 gene.


cancer-related condition

A disorder either associated with an increased risk for malignant transformation (e.g., intraepithelial neoplasia, leukoplakia, dysplastic nevus, myelodysplastic syndrome) or that develops as a result of the presence of an existing malignant neoplasm (e.g., paraneoplastic syndrome).


hyperthyroxinemia

Abnormally elevated thyroxine level in the blood.


amelogenesis imperfecta, hypomaturation type, IIa6


neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures


Leber congenital amaurosis 8

Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRB1 gene.


diarrhea-vomiting due to trehalase deficiency

This syndrome is characterised by diarrhoea and vomiting after ingestion of trehalose, a disaccharide found mainly in mushrooms.


Arenaviridae infectious disease

Virus diseases caused by the arenaviridae.


sphingolipidosis

An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease.


hereditary palmoplantar keratoderma

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


Meier-Gorlin syndrome 2

Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC4 gene.


spermatogenic failure, X-linked, 2

Any azoospermia in which the cause of the disease is a mutation in the TEX11 gene.


AKT2-related familial partial lipodystrophy


cone dystrophy 3

Any cone dystrophy in which the cause of the disease is a mutation in the GUCA1A gene.


familial Mediterranean fever, autosomal dominant


mitochondrial substrate carrier disorder


pityriasis rotunda

Pityriasis rotunda is a rare skindisease characterized by round, scaly, pigmented patches that mainly occur on the trunk, arms and legs. There are two types of pityriasis rotunda.


mitochondrial complex 1 deficiency, nuclear type 8


chromosome 22q11.2 microduplication syndrome

The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS), establishing a complementary duplication syndrome.


autosomal dominant nonsyndromic hearing loss 43

An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p12.


chronic inflammatory demyelinating polyneuritis

An immunologic inflammatory disorder characterized by loss of myelin in the peripheral nerves. Patients present with progressive weakness and loss of sensory function in the legs and arms.


congenital absence/hypoplasia of thumb, bilateral

Congenital absence/hypoplasia of thumb, bilateral is a rare developmental defect during embryogenesis characterized by bilateral underdevelopment of the thumbs, ranging from a slight decrease in thumb size to complete absence of the thumbs. This anomaly counts for 20-60% of thumb hypoplasias.


intellectual disability, autosomal dominant 41

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the TBL1XR1 gene.


mitochondrial complex III deficiency nuclear type 7

Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC2 gene.


central nervous system hibernoma

A rare benign slow growing adipose tumor, characterized by the presence of polygonal brown fat cells with abundant cytoplasm, that arises within the nervous system.


hypochondroplasia

Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.


Bruck syndrome 2

Any Bruck syndrome in which the cause of the disease is a mutation in the PLOD2 gene.


neurodevelopmental disorder with poor growth and behavioral abnormalities


familial idiopathic inflammatory myopathy

An instance of myositis that is caused by an inherited genomic modification in an individual, and has an unknown cause.


neurodevelopmental disorder with alopecia and brain abnormalities


congenital candidiasis

A fungal infection by any of the Candida species that is present at birth.


benign neoplasm of spleen

A benign neoplasm that involves the spleen.


mitochondrial complex III deficiency nuclear type 9

Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC3 gene.


O'nyong'nyong fever

An disease or disorder caused by infection with O'nyong-nyong virus.


acquired angioedema type 1

Acquired angioedema type 1 (AAE 1) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.


familial anetoderma

Familial anetoderma is an extremely rare genetic skin disease characterized by loss of elastin tissue leading to localized areas of flaccid skin and a family history of the disorder.


rhinosporidiosis

Chronic, localized granulomatous infection of mucocutaneous tissues, especially the nose, and characterized by hyperplasia and the development of polyps. It is found in humans and other animals and is caused by the mesomycetozoean organism rhinosporidium seeberi.


erosive pustular dermatosis of the scalp

Erosive pustular dermatosis of the scalp is a rare chronic inflammation of the scalp usually occurring in elderly women (>70 years old) and characterized by the development of painful pustules, shallow erosions, and crusting on atrophic skin that eventually result in cicatricial alopecia.


plague

Plague is a severe bacterial infection caused by the gram-negative bacterium Yersinia pestis.


Aicardi-Goutieres syndrome 3

Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2C gene.


recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome

Hyperzincemia and hypercalprotectinemia is a rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported.


spastic ataxia 3

Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MARS2 gene.


SSR4-congenital disorder of glycosylation

A form of congenital disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene SSR4(Xq28).


neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities


stenosis or atrophy of the coronary ostium


radial nerve lesion

A peripheral nerve lesion that involves the radial nerve.


multiple congenital anomalies/dysmorphic syndrome-intellectual disability


myasthenia gravis with thymus hyperplasia


inborn disorder of bilirubin metabolism

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


Brugada syndrome 6

Any Brugada syndrome in which the cause of the disease is a mutation in the KCNE3 gene.


hereditary spastic paraplegia 42

Autosomal dominant spastic paraplegia type 42 is a pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging.


congenital muscular dystrophy with hyperlaxity

Congenital muscular dystrophy with hyperlaxity is a rare, genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and, in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time.


Huntington disease-like 1

Any neurodegenerative disease with chorea in which the cause of the disease is a mutation in the PRNP gene.


primary ciliary dyskinesia 24

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH1 gene.


multicentric reticulohistiocytosis

Multicentric reticulohistiocytosis (MRH) is a rare non-Langerhans cell histiocytosis characterized by the association of specific nodular skin lesions and destructive arthritis.


cataract 41

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the WFS1 gene.


tauopathy

Neurodegenerative disorders involving deposition of abnormal tau protein isoforms (tau proteins) in neurons and glial cells in the brain. Pathological aggregations of tau proteins are associated with mutation of the tau gene on chromosome 17 in patients with alzheimer disease; dementia; parkinsonian disorders; progressive supranuclear palsy (supranuclear palsy, progressive); and corticobasal degeneration.


extensively drug-resistant tuberculosis

A type of drug-resistant tuberculosis that is resistant to any fluoroquinolone, and at least one of three second-line injectable drugs (capreomycin, kanamycin, and amikacin), in addition to resistance to rifampicin and isoniazid.


binocular vision disease

Any inability to efficiently utilize and/or sustain binocular vision.


bladder exstrophy-epispadias-cloacal extrophy complex

An anterior midline defect with variable expression involving the infraumbilical abdominal wall including the pelvis, urinary tract, and external genitalia.


spondyloepimetaphyseal dysplasia, Shohat type

A spondyloepimetaphyseal dysplasia characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.


Brucella canis brucellosis

A brucellosis involving an infection caused by Brucella canis [NCBITaxon:36855] in dogs and humans. The disease has symptom fever, has symptom sweats, has symptom weakness, has symptom weight loss, has symptom headache, has symptom lymphadenopathy and has symptom splenomegaly.


hypotonia, infantile, with psychomotor retardation and characteristic facies 2

Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the UNC80 gene.


primary ciliary dyskinesia 19

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the LRRC6 gene.


B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)

A precursor lymphoid neoplasm which is composed of B-lymphoblasts and carries a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein. It has an unfavorable clinical outcome.


microcephalic primordial dwarfism due to RTTN deficiency

Microcephalic primordial dwarfism due to RTTN deficiency is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by primary microcephaly, profound short stature, moderate to severe intellectual disability, global developmental delay, craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) and variable brain malformations, including simplified gyration, pachygyria, polymicrogyria, reduced sulcation, dysgenesis of corpus callosum and deformed ventricles. Renal anomalies, bilateral hearing loss, multiple joint contractures, severe failure to thrive and a sacral lesion cephalad to the gluteal crease have also been reported.


bone fibrosarcoma

A usually aggressive malignant neoplasm arising from the bone. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.


neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation


chromosome 19q13.11 deletion syndrome

The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails.


distal trisomy 11q

Distal trisomy 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (e.g. atrial septal defect), skeletal (incl. brachy/syndactyly) and genital (e.g. micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported.


sulfur mustard poisoning

A poisoning that is caused by exposure to sulfur mustard. The effects of mustard poisoning may be local, systemic, or both, depending on environmental conditions, exposed organs, and the extent and duration of exposure. The toxic effects of mustard include inhibition of mitosis, NAD depletion, decreased tissue respiration and finally cell death.


Kniest dysplasia

Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).


catecholaminergic polymorphic ventricular tachycardia 4

Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CALM1 gene.


fetishism

A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the use of nonliving objects such as women's wearing apparel (the "fetish").


osteogenesis imperfecta type 5

Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI).


testicular infarct

Ischemic necrosis of the testis usually caused by torsion of the spermatic cord, trauma, or severe epididymo-orchitis.


Weil's disease

A jauncice caused by severe leptospirosis.


thalassemia

An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation.


idiopathic disease

A disease or disorder for which the cause is of uncertain or unknown.


benign neoplasm of sweat gland

A benign neoplasm that involves the sweat gland.


monomelic amyotrophy

Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms.


immunodeficiency with defective T-cell response to interleukin 1


extraskeletal Ewing sarcoma

A rare malignant neoplasm of the soft tissues. It is typically a disease of children and young adults. Most commonly occurs in the paravertebral region, chest wall, pelvis and lower extremities. Treatment includes local excision with consideration for post-operative chemotherapy and/or radiotherapy.


autosomal recessive spinocerebellar ataxia 10

Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the ANO10 gene.


qualitative or quantitative defects of myotilin


boutonneuse fever

An infectious disease of the Mediterranean area, the Crimea, Africa, and India, caused by infection with rickettsia conorii subsp. coronorii.


primary pigmented nodular adrenocortical disease

A form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter).


cortical senile cataract

A senile cataract that involves the lens cortex.


straddling and/or overriding mitral valve


amelogenesis imperfecta type 1A

Any amelogenesis imperfecta in which the cause of the disease is a mutation in the LAMB3 gene.


STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation.


malformation of the cerebellar hemispheres


ectodermal dysplasia, trichoodontoonychial type

Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996.


Teebi-Shaltout syndrome

Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features.


chromosome 16p11.2 duplication syndrome

Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life.


TWIST1-related craniosynostosis

Any craniosynostosis in which the cause of the disease is a mutation in the TWIST1 gene.


Medich giant platelet syndrome

Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding.


lissencephaly with cerebellar hypoplasia type E

Lissencephaly with cerebellar hypoplasia type E (LCHe) is a form of lissencephaly with cerebellar hypoplasia, characterized by an abrupt transition from agyria to gyral simplification, near the boundary between frontal and parietal cortex, microcephaly (B1 3 SD) and brainstem hypoplasia.


microphthalmia, isolated, with coloboma 8


CAPN5-related vitreoretinopathy

An autosomal dominant vitreoretinopathy caused by variants in the CAPN5 gene. Additional features, such as developmental delay and hypotonia, have been reported in some patients.


lymphomatoid papulosis

Lymphomatoid papulosis (LyP) is a rare cutaneous condition characterized by chronic, recurrent, and self-regressing papulonodular skin eruptions. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders, along with primary cutaneous anaplastic large cell lymphoma (primary C-ALCL) with which it shares overlapping clinical and histopathologic features.


cerebellar dysfunction with variable cognitive and behavioral abnormalities

Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).


infantile osteopetrosis with neuroaxonal dysplasia

This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus.


nevus of Ito

Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and may in rare occasions occur together with the latter.


ectrodactyly with and without other manifestations


white sponge nevus 1

Any hereditary mucosal leukokeratosis in which the cause of the disease is a mutation in the KRT4 gene.


corneal infection

A viral or bacterial infectious process affecting the cornea. Symptoms include pain and redness in the eye, photophobia and eye watering.


Bailey-Bloch congenital myopathy

Bailey-Bloch congenital myopathy is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.


congenital cataract-ichthyosis syndrome

Congenital cataract-ichthyosis syndrome is characterized by congenital cataract associated with ichthyosis. It has been described in less than ten patients from two unrelated families. Transmission is autosomal recessive.


aniridia-ptosis-intellectual disability-familial obesity syndrome

Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986.


amelogenesis imperfecta type 1E

Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMELX gene.


autosomal dominant distal hereditary motor neuropathy

Autosomal dominant form of distal hereditary motor neuropathy.


marcothrombocytopenia with mitral valve insufficiency

Macrothrombocytopenia with mitral valve insufficiency is a rare hemorrhagic disorder due to a platelet anomaly characterized by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency.


Duane retraction syndrome with congenital deafness

A rare neurologic disease characterized by the presence of Duane retraction syndrome (i. e. a congenital cranial dysinnervation disorder with unilateral or bilateral limitation of abduction and/or adduction of the eye, as well as globe retraction and palpebral fissure narrowing on attempted adduction) in combination with congenital unilateral or bilateral hearing loss. The sidedness of hearing loss corresponds to the sidedness of the retraction syndrome.


hyperekplexia 3

Any hereditary hyperekplexia in which the cause of the disease is a mutation in the SLC6A5 gene.


cerebroretinal microangiopathy with calcifications and cysts 2

Any Coats plus syndrome in which the cause of the disease is a mutation in the STN1 gene.


treatment-refractory schizophrenia

Schizophrenia which does not respond to commonly used treatments.


auriculocondylar syndrome 2

Any auriculocondylar syndrome in which the cause of the disease is a mutation in the PLCB4 gene.


methamphetamine-induced psychosis

Abnormal mental state resulting from an abuse of methamphetamine


Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15


testicular monophasic choriocarcinoma

A choriocarcinoma that arises from the testis and is characterized by the predominance of cytotrophoblastic and intermediate trophoblastic cells. Syncytiotrophoblastic cells are absent or not prominent.


congenital axonal neuropathy with encephalopathy

A rare, congenital, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia.


X-linked intellectual disability-precocious puberty-obesity syndrome is characterised by moderate intellectual deficit and precocious puberty. It has been described in three males from two generations of one Australian family. Morbid obesity was noted in the mothers of the patients. Transmission is X-linked.


disease related to transplantation

Disease that occurs as a consequence of immunosuppression in a recipient of a solid organ or bone marrow transplant, or as a consequence of the transplantation.


autosomal dominant nonsyndromic hearing loss 23

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SIX1 gene.


epithelioid trophoblastic tumor

An epithelioid trophoblastic tumor is an extremely rare gestational trophoblastic tumor (GTT) which generally occurs several years after pregnancy.


Alkhurma hemorrhagic fever

A disease caused by infection with Alkhumra hemorrhagic fever virus.


acquired adult-onset immunodeficiency

A acquired immunodeficiency that occurs in an adult.


autoimmune retinopathy

An autoimmune disease characterized by sudden onset of photopsias and scotomata in patients with no family history of retinitis pigmentosa, followed by visual field and central vision loss.


inherited neuroendocrine tumor

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


COG1-congenital disorder of glycosylation

COG1-CDG is an extremely rare form of CDG syndrome characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.


immunodeficiency 106, susceptibility to viral infections


ectothrix infectious disease

A dermatophyte infection of the hair that infects the hair surface.


acquired monoclonal Ig light chain-associated Fanconi syndrome

A rare monoclonalgammopathy characterized by renal proximal tubule dysfunction secondary to monoclonal kappa light chain deposits in proximal tubular cells. Clinical presentation is with variable chronic kidney disease, low molecular weight proteinuria, aminoaciduria, hyperphosphaturia, uricosuria, bicarbonaturia, and non-diabetic glycosuria. Renal phosphate and urate wasting may cause hypophosphatemia and hypouricaemia.


benign dermal neurilemmoma

A benign schwannoma occurring in the skin.


major hypertriglyceridemia

Major hypertriglyceridemia comprises a group of endocrine diseases characterized by permanently high levels of triglycerides (TG) in the blood (higher than 4g/L after 12 hours of fasting) and an increased risk of acute pancreatitis, making screening essential.


hereditary retinoblastoma

An inherited malignant tumor that originates in the nuclear layer of the retina. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma.


camptodactyly syndrome, Guadalajara type 2

Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985.


alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome

This syndrome is characterized by the association of total alopecia (present at birth), mild intellectual deficit and hypergonadotropic hypogonadism.


Charcot-Marie-Tooth disease type 4G

Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies.


systemic polyarteritis nodosa

Systemic polyarteritis nodosa (PAN) is a chronic systemic necrotizingvasculitis of adults and childrenaffecting small- and medium-sized vessels and characterized by formation of microaneurysms leading to serious generalized disease and multi-organ involvement.


familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation


neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome


central pontine myelinolysis

A central nervous system disorder caused by demyelination within the central basis pontis of the brain. It is characterized by spastic quadriplegia, pseudobulbar palsy and encephalopathy. It is observed in patients with severe hyponatremia, particularly when the hyponatremia is corrected too rapidly.


Charcot-Marie-Tooth disease type 2D

Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.


hereditary spastic paraplegia 56

Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the CYP2U1 gene.


intellectual disability, autosomal dominant 48


Alexander disease type II

Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms.


loose anagen syndrome

Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma.


femoral neuropathy

Neuropathy of the femoral nerve.


retinitis pigmentosa 31

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


hydatidiform mole, recurrent, 2

Any complete hydatidiform mole in which the cause of the disease is a mutation in the KHDC3L gene.


subepithelial mucinous corneal dystrophy

Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision.


Charcot-Marie-Tooth disease type 4C

Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported.


craniosynostosis 2

A form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.


neoplasm of major salivary gland

A neoplasm (disease) that involves the major salivary gland.


brain stem infarction

Infarctions that occur in the brain stem which is comprised of the midbrain; pons; and medulla oblongata. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury.


adenylosuccinate lyase deficiency

Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.


hypogonadotropic hypogonadism 5 with or without anosmia

Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the CHD7 gene.


bleeding diathesis due to thromboxane synthesis deficiency


hypogonadotropic hypogonadism 18 with or without anosmia

Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the IL17RD gene.


Zellweger-like syndrome without peroxisomal anomalies

An extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive.


pneumococcal infection

Infections with bacteria of the species streptococcus pneumoniae.


premature ovarian failure 6

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


micromelic bone dysplasia with cloverleaf skull