combined dystonia

description: A dystonia that is combined with another movement disorder (e.g., myoclonus, parkinsonism).


isolated cleft palate

category: biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing

description: A cleft palate that is not part of a larger syndrome.


name: primitive neuroectodermal tumor of the cervix uteri

description: Primitive neuroectodermal tumor of the cervix uteri is a rare cancer of cervix uteri derived from neural crest cells, histologically composed of small, round neoplatic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, soft, poorly circumscribed mass with infiltrative borders and necrotic areas. It presents with dysfunctional vaginal bleeding or discharge, lower abdominal pain and uterine enlargement.


name: benign peritoneal solitary fibrous tumor

description: A peritoneal benign neoplasm that is characterized by the presence of prominent hemangiopericytoma-like vessels.


Weill-Marchesani syndrome 2, dominant

description: A Weill-Marchesani syndrome characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome.


name: intellectual disability, autosomal recessive 43

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the WASHC4 gene.


atrial fibrillation, familial, 11

description: Any familial atrial fibrillation in which the cause of the disease is a mutation in the GJA5 gene.


Yunis-Varon syndrome

description: Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects, skeletal abnormalities, developmental delay, and/or intellectual disability. Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and isinherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.


acute mountain sickness

description: Acute mountain sickness is characterized by altitude sickness that affects otherwise healthy persons, develops within hours after arriving at altitude, and results in functional impairment from symptoms that may include headache, anorexia, nausea, vomiting, dizziness, fatigue, and sleep disturbances.


name: maternal uniparental disomy of chromosome 16


name: metaphyseal chondrodysplasia, Spahr type


gonococcal spondylitis

description: An spondylitis caused by infection with Neisseria gonorrhoeae.


name: trichomegaly-retina pigmentary degeneration-dwarfism syndrome

description: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability.


name: autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain


melanoma associated retinopathy

description: Melanoma-associated retinopathy (MAR) is a rare autoimmune condition that occurs in some people with melanoma (a type of skin cancer) and can affect the vision.


encephalocraniocutaneous lipomatosis

description: A rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations.


rabies

description: Rabies is a viral zoonosis leading to a fatal encephalopathy if not treated.


name: imperforate oropharynx-costo vetebral anomalies syndrome

description: Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989.


T-B+ severe combined immunodeficiency

description: T-B+ severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive.


cranial neuralgia

description: A neuralgia that involves the cranial neuron projection bundle.


name: developmental and epileptic encephalopathy, 80


name: myopathy, myofibrillar, 9, with early respiratory failure


Joubert syndrome 15

description: Any Joubert syndrome in which the cause of the disease is a mutation in the CEP41 gene.


BCOR ITD sarcoma

description: A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR internal tandem duplication.


encephalomyelitis

description: Inflammation of the brain and the spinal cord.


Wallerian degeneration

description: A condition caused by degeneration, atrophy, and destruction of the distal part of a nerve fiber's axon and myelin, when continuity with the neural cell nucleus has been severed due to injury. Signs and symptoms include muscle weakness, altered sensation, and limb numbness.


advanced sleep phase syndrome 3

description: Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER3 gene.


name: blepharophimosis - intellectual disability syndrome, MKB type

description: The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males.


name: malignant peritoneal solitary fibrous tumor

description: A malignant form of peritoneal solitary fibrous tumor.


congenital bile acid synthesis defect 3

description: Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterized by severe neonatal cholestatic liver disease.


name: severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome

description: Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size.


lysosomal lipid storage disorder

description: An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes.


name: short-rib thoracic dysplasia 8 with or without polydactyly

description: An asphyxiating thoracic dystrophy that has material basis in compound heterozygous mutation in the WDR60 gene on chromosome 7q36.


galactose epimerase deficiency

description: Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism.


name: ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

description: An ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate.


name: neurodevelopmental disorder with hypotonia, neuropathy, and deafness


Keutel syndrome

description: Keutel syndrome is characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism.


name: congenital disorder of glycosylation, type Ibb


familial porencephaly

description: An instance of porencephaly that is caused by an inherited modification of the individual's genome.


name: mitochondrial DNA depletion syndrome, hepatocerebral form


hookworm infectious disease

description: Infection of humans or animals with hookworms other than those caused by the genus Ancylostoma or Necator, for which the specific terms ancylostomiasis and necatoriasis are available.


variant ABeta2M amyloidosis

description: A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy.


early congenital syphilis

description: A congenital syphilis that is manifested between 0 and 2 years old.


name: combined oxidative phosphorylation defect type 17

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the ELAC2 gene.


Doyne honeycomb retinal dystrophy

description: Doyne honeycomb retinal dystrophy (DHRD) is a condition that affects the eyes and causes vision loss. It is characterized bysmall, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium(the pigmented layer of the retina). Over time, drusen may grow and come together, creating a honeycomb pattern. It usually begins in early to mid adulthood, but the age of onset varies.The degree of vision loss also varies. DHRD is usually caused by mutations in the EFEMP1 gene and is inherited in an autosomal dominant manner.


trigonocephaly 2

description: Any isolated trigonocephaly in which the cause of the disease is a mutation in the FREM1 gene.


spermatogenic failure 12

description: Any azoospermia in which the cause of the disease is a mutation in the NANOS1 gene.


skull neoplasm

description: A benign or malignant neoplasm that affects the bones and structures of the skull.


name: helicoid peripapillary chorioretinal degeneration

description: Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease.


trisomy 10p

description: Trisomy 10p is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10.


name: hypotonia, infantile, with psychomotor retardation and characteristic facies

description: A rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip).


intellectual disability, X-linked 19

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the RPS6KA3 gene.


name: combined oxidative phosphorylation deficiency 45


immunodeficiency 67

description: An immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria.


Gaisbock syndrome

description: Polycythemia that is caused by stress.


CPOX-related hereditary coproporphyria

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


name: phosphoenolpyruvate carboxykinase deficiency, mitochondrial


name: atypical Fanconi syndrome-neonatal hyperinsulinism syndrome


brain hypoxia - ischemia

description: A disorder characterized by a reduction of oxygen in the blood combined with reduced blood flow (ischemia) to the brain from a localized obstruction of a cerebral artery or from systemic hypoperfusion. Prolonged hypoxia-ischemia is associated with ischemic attack, transient; brain infarction; brain edema; coma; and other conditions.


medulloblastoma non-WNT/non-SHH group 4

description: A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by the absence of MYC amplifications and TP53 mutations, while chromosome 17 abnormalities may be present.


name: autosomal recessive spondylocostal dysostosis

description: Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterized by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.


description: An autosomal recessive, multisystem condition caused by pathogenic variants of the ERCC6 gene, encoding the DNA excision repair protein, ERCC-6. Cockayne spectrum with or without cerebrooculofacioskeletal syndrome is characterized by growth failure at birth, with little or no postnatal neurologic development in addition to congenital cataracts or other structural anomalies of the eye, early postnatal contractures of the spine (kyphosis, scoliosis) and joints, and death usually occurring by age five years. This term lumps Cockayne syndrome type 2/B (CSB), cerebrooculofacioskeletal syndrome 1 (COFS syndrome), and De Sanctis-Cacchione syndrome into a spectrum of disease.


name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5


name: nephrogenic syndrome of inappropriate antidiuresis

description: Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels.


inherited dystonia

description: An instance of dystonic disorder that is caused by an inherited modification of the individual's genome.


name: hypercarotenemia and vitamin A deficiency, autosomal recessive


plantar nerve lesion

description: A peripheral nerve lesion that involves the plantar nerve.


null syndrome

description: The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy.


name: Bietti crystalline corneoretinal dystrophy

description: Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness.


hereditary spastic paraplegia 11

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the SPG11 gene.


D-glyceric aciduria

description: A metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Clinical findings include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. Some patients had hyperglycinemia secondary to the organic acidemia. However, some of the reported patients were asymptomatic. D-glyceric aciduria is caused by D-glycerate kinase deficiency. The GLYCTK gene has been mapped to 3p21.


hypotrichosis simplex

description: Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies.


cutaneous porphyria

description: Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis.


idiopathic hypersomnia

description: Idiopathic hypersomnia is a sleep disorder classified in two forms: idiopathic hypersomnia with long sleep time and idiopathic hypersomnia without long sleep time.


childhood absence epilepsy

description: A familial generalized pediatric epilepsy, characterized by very frequent (multiple per day) absence seizures, usually occurring in children between the ages of 4 and 10 years, with, in most cases, a good prognosis.


Singleton-Merten dysplasia

description: Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).


osteogenesis imperfecta, type 19

description: An X-linked recessive sub-type of osteogenesis imperfecta caused by mutation(s) in the MBTPS2 gene, encoding membrane-bound transcription factor site-2 protease. It is characterized by prenatal fractures and osteopenia, with severe short stature in adulthood. Variable dysmorphic features may occur including scoliosis, pectal deformity, and anterior angulation of the tibia.


trachea leiomyoma

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


name: coloboma of macula-brachydactyly type B syndrome

description: Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner.


accessory tricuspid valve tissue

description: Accessory tricuspid valve tissue is a rare, congenital, atrioventricular valve malformation characterized by fixed or mobile accessory tissue on the tricuspid valve, usually associated with other complex congenital heart anomalies (atrial septal defect, ventricular septal defect, transposition of great arteries, tetralogy Fallot). It may present clinically with systolic murmur, dyspnea, cyanosis, depending also on accompanying congenital heart anomaly.


thinking seizures

description: Thinking seizures is a rare neurologic disease characterized by seizures induced by specific cognitive tasks, such as calculation or solving arithmetic problems (e.g Sudoku puzzle), playing thinking games (e.g. Rubik's cube, chess, cards), thinking, making decisions and abstract reasoning. Idiopathic generalized seizures are mainly involved, but partial epilepsies may, in rare cases, be observed.


name: neurodevelopmental disorder with hypotonia and seizures


glycine metabolism disease

description: A disease that has its basis in the disruption of glycine metabolic process.


Charcot-Marie-Tooth disease type 2B2

description: Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry.


pyridoxine-dependent epilepsy

description: A rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6).


name: epidermolysis bullosa simplex 2F, with mottled pigmentation

description: A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering with mottled or reticulate brown pigmentation.


oculocerebrocutaneous syndrome

description: Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual disability and is typically characterized by the triad of eye, central nervous system and skin malformations.


acral persistent papular mucinosis

description: Acral persistent papular mucinosis is a rare chronic form of localized lichen myxedematosus characterized by the development of multiple symmetrical skin-colored mucinous papules exclusively on the extensor surface of the hands and distal forearms.


neuronal ceroid lipofuscinosis

description: A group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.


name: Tay-Sachs disease, b variant, juvenile form


name: microcephaly-cardiac defect-lung malsegmentation syndrome

description: Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate.


spontaneous periodic hypothermia

description: Spontaneous periodic hypothermia (SPH) is a neurological disorder characterized by spontaneous periodic hypothermia and hyperhidrosis in the absence of hypothalamic lesions.


scalp-ear-nipple syndrome

description: Scalp-ear-nipple syndrome is characterized by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.


central nervous system AIDS arteritis

description: Inflammation of arteries in the central nervous system that occurs in patients with acquired immunodeficiency syndrome or aids-related opportunistic infections.


description: Muscular pseudohypertrophy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism.


acute basophilic leukemia

description: A rare acute myeloid leukemia in which the immature cells differentiate towards basophils.


D,L-2-hydroxyglutaric aciduria

description: D,L-2-hydroxyglutaric aciduria is a rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites.


name: Charcot-Marie-Tooth disease, demyelinating, IIA 1I


name: autosomal recessive spastic paraplegia type 76

description: Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration.


acid sphingomyelinase deficiency

description: An autosomal recessive lysosomal disease caused by biallelic loss of function variants in the SMPD1 gene. Clinical symptoms in affected individuals occur along a continuum. At the severe end of the spectrum are individuals historically diagnosed with Niemann-Pick disease type A (the neurovisceral form), which is characterized by hepatosplenomegaly with rapid neurological deterioration leading to death in the first few years of life. At the milder end of the spectrum are individuals historically diagnosed with Niemann-Pick disease type B, a later-onset, chronic visceral form, characterized by progressive visceral organ symptoms including hepatosplenomegaly and pulmonary insufficiency, and survival into adulthood. In addition, some affected individuals present with an intermediate phenotype, Niemann-Pick disease type A/B.


name: cortical dysplasia, complex, with other brain malformations 11


allergic contact dermatitis of eyelid

description: A allergic contact dermatitis that involves the eyelid.


name: fatty acid hydroxylase-associated neurodegeneration

description: Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus.


name: PPARG-related familial partial lipodystrophy


name: isolated congenital hypogonadotropic hypogonadism

description: A congenital hypogonadotropic hypogonadism that is not part of a larger syndrome.


name: hereditary disorder of connective tissue

description: An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome.


name: congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome


inherited sideroblastic anemia

description: An inherited form of sideroblastic anemia.


name: developmental and epileptic encephalopathy, 42

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CACNA1A gene.


pontocerebellar hypoplasia type 2

description: Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty.


mandibuloacral dysplasia

description: Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy.


calcium-alkali syndrome

description: The ingestion of excessive calcium supplementation or calcium containing antacids, and alkali resulting in a triad of hypercalcemia, metabolic alkalosis, and renal insufficiency.


name: symptomatic form of hemophilia A in female carriers

description: A form of hemophilia A that manifests in some women with mutations in the F8 gene (Xq28), encoding coagulation factor VIII.


name: neurodegeneration with brain iron accumulation 7


Colorado tick fever

description: A febrile illness characterized by chills, aches, vomiting, leukopenia, and sometimes encephalitis. It is caused by the colorado tick fever virus, a reovirus transmitted by the tick Dermacentor andersoni.


name: neuropathy, congenital hypomyelinating, 3


myopathy caused by variation in POMGNT1

description: Any myopathy in which the cause of the disease is a variation in the POMGNT1 gene.


name: peroxisomal single enzyme/protein defect

description: Any peroxisomal disease in which the cause of the disease is a defect in a single enyme or protein.


name: autosomal recessive nonsyndromic hearing loss 35

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


distal myopathy, Tateyama type

description: Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. Some patients may also show calf hypertrophy, pes cavus, and signs of muscle hyperexcitability.


mite infestation

description: Infestations with arthropods of the subclass acari, superorder Acariformes.


anterior segment dysgenesis 7

description: Any anterior segment dysgenesis in which the cause of the disease is a mutation in the PXDN gene.


name: non-syndromic non-specific multisutural craniosynostosis


hereditary spastic paraplegia 74

description: Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported.


name: inborn disorder of methionine cycle and sulfur amino acid metabolism

description: An inherited metabolic disease that is has its basis in the disruption of sulfur amino acid metabolic process.


name: autosomal recessive limb-girdle muscular dystrophy type 2G

description: Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed.


name: contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A


name: short-rib thoracic dysplasia 17 with or without polydactyly


vertebral joint disorder

description: A disease that involves the intervertebral joint.


infectious epithelial keratitis

description: Infectious epithelial keratitis is a rare, potentially sight-threatening, acquired ocular disease chracterized by corneal epithelium inflammation resulting from viral (mainly Herpes Simplex virus), bacterial, fungic or protist infection, manifesting with variable symptoms, such as conjunctival hyperemia, lacrimation, rapid onset of pain, blurred vision and/or photophobia, depending on the causative agent.


erythrokeratoderma en cocardes

description: Erythrokeratoderma 'en cocardes' is a rare genodermatosis characterized by circumscribed target-like (or 'en cocardes') erythematous hyperkeratotic lesions. These lesions, which remit and recur, affect the trunk and extremities and are accompanied by scaly plaques evocative of erythrokeratoderma variabilis. Onset usually occurs at birth or during early childhood. Only few cases have been described. Transmission is autosomal dominant.


formiminoglutamic aciduria

description: Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterized by mild developmental delay and elevated concentrations of formiminoglutamate (FIGLU) in the urine. A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anemia.


accessory nerve disorder

description: A disease involving the accessory XI nerve.


chromosome 15q26-qter deletion syndrome

description: Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported.


immunoglobulin A deficiency 2

description: Any selective IgA deficiency disease in which the cause of the disease is a mutation in the TNFRSF13B gene.


Meckel syndrome, type 1

description: Any Meckel syndrome in which the cause of the disease is a mutation in the MKS1 gene.


pediatric multiple sclerosis

description: Pediatric multiple sclerosis (MS) is a rare multiple sclerosis variant characterized by the onset of multiple sclerosis (i.e. one or multiple episodes of clinical CNS symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders) before the age of 18 years old. Pediatric MS patients present a predominantly relapsing-remitting course with first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on initial MRI, primarily of the supratentorial region and/or of the cervical spinal cord, has been reported.


brain small vessel disease 3

description: An autosomal recessive disorder resulting from fragility of cerebral vessels causing an increased risk of intracranial bleeding. The resultant phenotype is highly variable depending on timing and location of the intracranial bleed. Some patients may have onset in utero or early infancy, with subsequent global developmental delay, spasticity, and porencephaly on brain imaging. Other patients may have normal or mildly delayed development with sudden onset of intracranial hemorrhage causing acute neurologic deterioration.


name: combined oxidative phosphorylation deficiency 47


name: basal ganglia calcification, idiopathic, childhood-onset


optic perineuritis

description: A rare ophthalmic disorder characterized by idiopathic orbital inflammation in which the specific target tissue is the optic nerve sheath. Patients typically present with ocular pain, pain on eye movement, visual symptoms with loss of vision progressing over several weeks, dyschromatopsia, and variable visual field defects. Orbital signs and symptoms may be present and include ptosis, ophthalmoplegia, and exophthalmos. Optic disk edema is observed in most cases. The condition is usually unilateral.


name: spastic paraplegia 88, autosomal dominant


RYR1-related myopathy

description: A disorder of the musculoskeletal system caused by pathogenic variants in the RYR1 gene, which encodes the ryanodine receptor type 1 protein. These variants are associated with a variety of overlapping features characterized by symmetric proximal muscle weakness, often with pronounced facial weakness with or without dysmorphism and ophthalmoparesis/ophthalmoplegia with ptosis, bulbar weakness, significant respiratory involvement, severe neonatal hypotonia, scoliosis, orthopedic deformities including arthrogryposis, hip dislocation, club feet, and King Denborough syndrome (pectus carinatum or excavatum, short stature, joint contractures, facial and skeletal deformities), malignant hyperthermia susceptibility, anesthesia-induced rhabdomyolysis, fatigue, exercise-induced hyperthermia/exertional heat stroke, and exertional myalgia. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include central core disease, multiminicore disease, cone-rod myopathy, centronuclear myopathy, and congenital fiber-type disproportion.


adenomyoma

description: A benign neoplasm characterized by the presence of a glandular and a mesenchymal (fibromyomatous) component. It occurs in the uterine corpus and the cervix. A variant of adenomyoma associated with glandular architectural complexity is called atypical polypoid adenomyoma. Simple polypectomy is usually curative. Atypical polypoid adenomyoma may recur following polypectomy.


Drachtman Weinblatt Sitarz syndrome

description: A rare genetic disorder, characterized by under-development of bone marrow and neurological disorders such as weakness on one side of the body, agenesis of corpus callosum and hydrocephalus.


uterine corpus sarcoma

description: A malignant mesenchymal neoplasm arising from the wall of the uterine corpus (uterine body). The most representative examples are leiomyosarcoma and endometrial stromal sarcoma.


cystitis cystica

description: A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by urothelial cells.


spastic cerebral palsy

description: A form of cerebral palsy wherein spasticity is the exclusive impairment present.


hereditary hypoparathyroidism

description: An instance of hypoparathyroidism that is caused by an inherited genomic modification in an individual.


rheumatic pulmonary valve disease

description: A rheumatologic disorder that involves the pulmonary valve.


name: immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein


hyperprolinemia type 2

description: Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay.


cleft lip and alveolus

description: Cleft lip and alveolus is a fissure type embryopathy that involves the upper lip, nasal base and alveolar ridge in variable degrees.


name: neurodevelopmental disorder with cerebellar atrophy and with or without seizures


ring chromosome disorder

description: Chromosomal disorder in which the chromosomal anomaly consists of the presence of a ring chromosome. A ring chromosome is a chromosome whose arms have fused together to form a ring, often with the loss of the ends of the chromosome.


RDH12-related dominant retinopathy

description: A retinopathy caused by gain of function, heterozygous variants in the RDH12 gene, and associated with late onset retinopathy with a mild phenotype, characterized by nyctalopia and visual field loss, but relatively preserved central vision.


orbit lymphoma

description: A lymphoma that arises from the structures of the orbit. Representative examples include mucosa-associated lymphoid tissue lymphoma, follicular lymphoma, and diffuse large B-cell lymphoma.


nosophobia

description: A specific phobia that involves an irrational fear of contracting a disease.


name: fatal infantile hypertonic myofibrillar myopathy


prolidase deficiency

description: An inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.


ring chromosome 12

description: Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (incl. epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, café-au-lait spots and epilepsy have also been reported.


advanced sleep phase syndrome 2

description: Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the CSNK1D gene.


name: intellectual disability, autosomal dominant 47


name: microcephaly 24, primary, autosomal recessive


name: foveal hypoplasia-presenile cataract syndrome


chromosome 1q41-q42 deletion syndrome

description: 1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.


mycosis fungoides and variants

description: Mycosis fungoides (MF) and its variants represent the most common forms of cutaneous T-cell lymphomas. The term MF is restricted to the classical form characterized by the slow progression of patches, plaques and tumors, and to variants with a similar indolent course.


name: serine biosynthesis pathway deficiency, infantile/juvenile form


acquired xanthinuria

description: Acquired xanthinuria is generally iatrogenic. Allopurinol treatment, administered to block XOR and prevent uric acid overproduction, leads to the accumulation of xanthine. Rarely, in the setting of aggressive chemotherapy with rapid tumor lysis or in patients with HPRT deficiency on allopurinol therapy, complications of renal failure can develop from xanthine crystal nephropathy.


name: autosomal recessive nonsyndromic hearing loss 12

description: An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the CDH23 gene on chromosome 10q22.


distal myopathy

description: Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands.


name: autosomal recessive secondary polycythemia not associated with VHL gene


bone development disease

description: A disease involving the bone development.


name: short-rib thoracic dysplasia 21 without polydactyly


name: partial duplication of the long arm of chromosome 15

description: Chromosome 15q duplication is a chromosome abnormality that occurs when an extra (duplicate) copy of the genetic material located on the long arm (q) of chromosome 15 is present in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the duplication and which genes are involved. Common features shared by many people with this duplication include developmental delay; intellectual disability; hypotonia (low muscle tone); seizures ; high and/or cleft palate (roof of the mouth); scoliosis ; slow growth; communication difficulties; behavioral problems; and distinctive facial features. Most cases are not inherited, although affected people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.


name: hypogonadotropic hypogonadism 15 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the HS6ST1 gene.


name: spondyloepiphyseal dysplasia, nishimura type


name: syndactyly-telecanthus-anogenital and renal malformations syndrome

description: This syndrome is characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.


immunodeficiency 18

description: Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18.


RP1-related dominant retinopathy

description: An inherited retinopathy caused by bi-allelic variants in the RP1 gene.


name: spondyloepimetaphyseal dysplasia, Krakow type


description: Aphalangy-syndactyly-microcephaly is an extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability.


simultanagnosia

description: An agnosia that is a loss of the ability to recognize a whole image or scene while retaining the ability to recognize objects or details in their visual field one at a time.


Weill-Marchesani syndrome 1

description: Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the ADAMTS10 gene.


adult fibrosarcoma

description: A malignant mesenchymal neoplasm composed of fibroblasts. It is characterized by collagen production and a herringbone architectural pattern. It is more commonly seen in middle-aged and older adults. It usually affects the deep soft tissues of extremities, trunk, head and neck. Adult fibrosarcomas may recur and metastasize to the lungs and bones.


splenic hodgkin lymphoma

description: A rare Hodgkin lymphoma that arises from the spleen.


name: pharyngeal-cervical-brachial variant of Guillain-Barre syndrome


pseudodiastrophic dysplasia

description: Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy.


flying phobia

description: An overwhelming, irrational, and persistent fear of traveling in an aircraft.


name: progressive bifocal chorioretinal atrophy

description: Progressive bifocal chorioretinal atrophy (PBCRA) is an early-onset chorioretinal dystrophy characterized by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow disease progression.


benign neoplasm of lymph node

description: A benign neoplasm that involves the lymph node.


name: autosomal recessive congenital ichthyosis 6

description: Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the NIPAL4 gene.


name: familial cold autoinflammatory syndrome 4

description: Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRC4 gene.


SchC6pf-Schulz-Passarge syndrome

description: A rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy.


hereditary photodermatosis

description: Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies.


Wernicke encephalopathy

description: An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. thiamine deficiency and chronic alcoholism are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to korsakoff syndrome. (Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3)


name: growth hormone insensitivity with immune dysregulation 1, autosomal recessive


name: deafness, autosomal dominant 39, with dentinogenesis imperfecta 1


benign neoplasm of major salivary gland

description: A benign neoplasm that involves the major salivary gland.


name: postaxial polydactyly type B, unilateral


X-linked recessive ocular albinism

description: X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males.


name: intellectual disability, autosomal dominant 24

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DEAF1 gene.


name: autosomal recessive nonsyndromic hearing loss 61

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SLC26A5 gene.


name: adrenocortical hypofunction, chronic primary congenital


name: agammaglobulinemia 2, autosomal recessive

description: Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the IGLL1 gene.


catamenial pneumothorax

description: Catamenial pneumothorax is an extremely rare condition that affects women. Pneumothorax is the medical term for a collapsed lung, a condition in which air or gas is trapped in the space surrounding the lungs causing the lungs to collapse. Women with catamenial pneumothorax have recurrent episodes of pneumothorax that occur within 72 hours before or after the start of menstruation. The exact cause of catamenial pneumothorax is unknown and several theories have been proposed. Many cases are associated with the abnormal development of endometrial tissue outside of the uterus (endometriosis). Some believe that catamenial pneumothorax is the most common form of thoracic endometriosis (a condition in which the endometrial tissue grows in or around the lungs). A diagnosis of catamenial pneumothorax is usually suspected when a woman of reproductive age and with endometriosis has episodes of pneumothorax.Treatment is with hormones and surgery.


acute mast cell leukemia

description: A rare systemic mastocytosis characterized by the presence of at least 20% usually immature and atypical mast cells in bone marrow aspirate smears. In classic mast cell leukemia, mast cells account for at least 10% of peripheral white blood cells, although the aleukemic variant with less than 10% mast cells is more common. C-findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption), indicative of organ damage due to mast cell infiltration, are usually present at diagnosis, while skin lesions are absent in most cases. Prognosis is generally poor.


aspirin-induced respiratory disease

description: An intrinsic asthma that is characertized by severe and prolonged airway obstruction after the ingestion of aspirin or other non-steroidal anti-inflammatory drugs.


acrocapitofemoral dysplasia

description: Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.


name: mitochondrial complex 1 deficiency, nuclear type 18


osteomesopyknosis

description: Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content.


chromosome 7 disorder

description: Chromosomal disorder in which chromosome 7 is affected.


name: acinar dysplasia caused by mutation in FGFR2

description: Any acinar dysplasia in which the cause of the disease is a mutation in the FGFR2 gene.


gonadal agenesis

description: A congenital disorder characterized by the complete absence of gonadal tissue.


humerus trochlea aplasia

description: Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus.


spinal arachnoiditis

description: A chronic adhesive arachnoiditis in the spinal arachnoid, with root and spinal cord symptoms similar to those caused by pressure from a tumor.


Seckel syndrome 2

description: Any Seckel syndrome in which the cause of the disease is a mutation in the RBBP8 gene.


name: retinal dystrophies primarily involving Bruch's membrane

description: A retinal dystrophy with etiology arising from Bruch's membrane, the site of drusen generation.


KCNH1 associated disorder

description: Any neurodevelopmental disorder in which the cause of the disease is a mutation in the KCNH1 gene. Variants in KCNH1 cause significant neurodevelopmental disabilities that lie along a phenotypic spectrum ranging from non-syndromic to syndromic. The most common phenotypes associated with variants in KCNH1 include intellectual disability, seizures, hypotonia, absence or hypoplasia of nails, and gingival enlargement. Hypoplastic terminal phalanges of fingers and toes, proximal placement and long thumb, and long toes present less frequently.


name: osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures

description: An osteogenesis imperfecta found in a single South African family.


name: mitochondrial complex V (ATP synthase) deficiency, nuclear type 7


name: persistent hyperplastic primary vitreous, autosomal recessive

description: Autosomal recessive form of persistent hyperplastic primary vitreous.


bladder dome cancer

description: Cancer of the upper, convex surface of the bladder.


name: familial primary hypomagnesemia with hypocalcuria


mesothelioma

description: A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos.


classic homocystinuria

description: Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system.


name: acute myeloid leukemia, WT1 gene mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly WT1 gene mutation. (A change in the nucleotide sequence of the WT1 gene.)


name: Klippel-Feil syndrome 2, autosomal recessive

description: Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the MEOX1 gene.


fish disease

description: Diseases of freshwater, marine, hatchery or aquarium fish. This term includes diseases of both teleosts (true fish) and elasmobranchs (sharks, rays and skates).


musculoskeletal system benign neoplasm

description: A benign neoplasm that involves the musculoskeletal system.


name: qualitative or quantitative defects of dystrophin


polyomavirus infectious disease

description: Infections with polyomavirus, which are often cultured from the urine of kidney transplant patients. Excretion of bk virus is associated with ureteral strictures and cystitis, and that of jc virus with progressive multifocal leukoencephalopathy (leukoencephalopathy, progressive multifocal).


congenital analbuminemia

description: Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA).


name: DDOST-congenital disorder of glycosylation

description: DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1).


otopalatodigital syndrome type 2

description: A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.


name: renal tubular dysgenesis due to twin-twin transfusion

description: An acquired form of renal tubular dysgenesis that develops in donor fetuses due to the uneven shunting of growth factor and nutrients to the kidney of the recipient and is characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects).


lumbar disk disease

description: A vertebral column disorder caused by degeneration of intervertebral disks of the lumbar spine. One of the most common musculoskeletal disorders, it has strong genetic determinants.


Treponema infectious disease

description: An disease caused by infection with Treponema.


name: X-linked intellectual disability-cubitus valgus-dysmorphism syndrome

description: An X-linked syndromic intellectual disability characterized by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive.


spinocerebellar ataxia type 13

description: Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia.


malignant syringoma

description: A malignant form of syringoma.


adult malignant mesenchymoma

description: A malignant mesenchymoma occurring in adults.


autoimmune hemolytic anemia, warm type

description: Warm autoimmune hemolytic anemia is the most common form of autoimmune hemolytic anemia defined by the presence of warm autoantibodies against red blood cells (autoantibodies that are active at temperatures between 37-40B0C).


name: acute myeloid leukemia, t(10;11)(p11.2;q23)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p11.2;q23). (A cytogenetic abnormality that refers to the translocation of the short arm (p11.2) of chromosome 10 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/ABI1 fusions and acute myeloid leukemia.)


hereditary spastic paraplegia 41

description: Autosomal dominant spastic paraplegia type 41 is a pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise.


name: glycogen storage disease due to aldolase A deficiency

description: Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggered by fever) without hemolytic anemia has recently been reported.


western equine encephalitis

description: An acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that more frequently affects children and that is characterized by the presence of mild flulike symptoms (fever, chills, headache, nausea, vomiting, and anorexia) but that can progress to weakness, altered mental status, photophobia, mental confusion, seizures, somnolence, coma and/or even death. The disease can leave neurological sequelae, mainly in infants and children, such as seizures, spasticity or behavioral disorders.


name: polymorphous low grade neuroepithelial tumor of the young

description: A central nervous system benign neoplasm that is characterized by the presence of oligodendroglioma-like components, may also contain astrocytic components and is associated with seizures and in many cases refractory epilepsy.


scrotum cancer

description: A primary or metastatic malignant neoplasm affecting the scrotum.


segmental odontomaxillary dysplasia

description: Segmental odontomaxillary dysplasia (SOD) is a rare disorder characterized by unilateral enlargement of the right or left maxillary alveolar bone and gingiva in the region from the back of the canines to the maxillary tuberosity. In the enlarged region, dental abnormalities such as missing teeth, abnormal spacing and delayed eruption occur.


name: mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant


name: mandibulofacial dysostosis with alopecia

description: A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia.


hereditary motor and sensory neuropathy

description: A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-Tooth DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)


acral self-healing collodion baby

description: Acral self-healing collodion baby (SHCB) is a variant of SHCB characterized by the presence at birth of a collodion membrane only at the extremities.


name: congenital pulmonary airway malformation type 4


Smith-McCort dysplasia

description: Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC.


name: autosomal recessive nonsyndromic hearing loss 83

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 9p23-p21.2.


bizarre leiomyoma

description: A morphologic variant of leiomyoma characterized by the presence of pleomorphic muscle cells with bizarre hyperchromatic nuclei and eosinophilic cytoplasm.


name: acute myeloid leukemia, monoallelic CEBPA gene mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly monoallelic CEBPA gene mutation. (The presence of mutations in only one allele of the CEBPA gene.)


specific granule deficiency 2

description: Specific granule deficiency-2 is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include hypercellularity, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and most patients die in early childhood unless they undergo hematopoietic stem cell transplantation. Some patients may have additional findings, including delayed development, mild dysmorphic features, and distal skeletal anomalies (summary by {2:Witzel et al., 2017}).nnFor a discussion of genetic heterogeneity of SGD, see SGD1 (OMIM:245480).


name: scapuloperoneal spinal muscular atrophy, autosomal recessive


name: spastic ataxia-corneal dystrophy syndrome

description: Mousa-AlDin-AlNassar syndrome is characterized by the presence of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia.


brachydactyly type A7

description: Brachydactyly type A7 (Smorgasbord type) is a form of brachydactyly that presents with the characteristic features of brachydactyly type A2 (shortening of the middle phalanges of the index finger and, sometimes, of the little finger) and type D (shortening of the distal phalanx of the thumb) plus various additional features.


inborn disorder of ornithine metabolism

description: An inherited metabolic disease that is has its basis in the disruption of ornithine metabolic process.


postprandial hypotension

description: Drastic decline in blood pressure which happens after eating a meal and most likely due to insufficient compensation in cardiac output by the autonomic nervous system for the diversion of blood to the intestines.


Filippi syndrome

description: Filippi syndrome is characterized by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.


hypothalamic disorder

description: Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; autonomic nervous system diseases; sleep disorders; behavioral symptoms related to dysfunction of the limbic system; and neuroendocrine disorders.


name: X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome


acute disseminated encephalomyelitis

description: Acute disseminated encephalomyelitis (ADEM) is a demyelinating disorder of the central nervous system.


optic nerve neoplasm

description: Benign and malignant neoplasms which arise from or metastasize to the optic or second cranial nerve which extends from the optic disk of the eye and joins the optic chiasm. Clinical features may include visual loss, proptosis, and local pain. The majority of optic nerve tumors or optic gliomas.


adult Refsum disease due to PEX7 defect

description: An adult Refsum disease in which the cause of the disease is a mutation in the PEX7 gene.


IDH3B-related retinopathy

description: An inherited retinopathy caused by bi-allelic variants in the IDH3B gene.


inherited primary ovarian failure

description: An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome.


intermittent asthma

description: A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control two or fewer days per week and no interference with normal activity.


name: neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements


name: mitochondrial complex III deficiency, nuclear type


Riley-Day syndrome

description: A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system.


amyotrophic lateral sclerosis type 9

description: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ANG gene.


congenital myasthenic syndrome 4A

description: A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13.


name: renal tubular acidosis, distal, 3, with or without sensorineural hearing loss


skeletal fluorosis

description: A condition that results from excessive fluoride ingestion leading to fluoride accumulation in the bone progressively over many years. The early symptoms of skeletal fluorosis, include stiffness and pain in the joints. In severe cases, the bone structure may change and ligaments may calcify, with resulting impairment of muscles and pain.


name: spondyloepiphyseal dysplasia, Cantu type

description: Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia).


allergic respiratory disease

description: A respiratory system disease with a basis in a pathological type I hypersensitivity reaction.


name: familial partial lipodystrophy, Kobberling type

description: Familial partial lipodystrophy, Kobberling type, is a very rare form of familial partial lipodystrophy (FPLD) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant.


Bardet-Biedl syndrome 15

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the WDPCP gene.


pentosuria

description: Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day.


name: rheumatoid factor-positive polyarticular juvenile idiopathic arthritis

description: A category of juvenile idiopathic arthritis defined by the presence of arthritis affecting five or more separate joints during the first six months of disease, with positive serologic testing for rheumatoid factor.


X-linked dystonia-parkinsonism

description: X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course.


BH4-deficient hyperphenylalaninemia A

description: An autosomal recessive condition caused by mutation(s) in the PTS gene, encoding 6-pyruvoyl tetrahydrobiopterin synthase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits.


name: ciliary dyskinesia with excessively long cilia


fungal discitis

description: Discitis caused by infection with fungi.


pericoronitis

description: Inflammation of the gingiva surrounding the crown of a tooth.


inherited porphyria

description: Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both.


peeling skin syndrome type A

description: Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS, a type of ichthyosis, characterized by generalized white scaling and superficial painless peeling of the skin.


vestibular ataxia

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


name: obesity due to congenital leptin deficiency

description: Congenital leptin deficiency is a form of monogenic obesity characterized by severe early-onset obesity and marked hyperphagia.


neuronal ceroid lipofuscinosis 13

description: Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CTSF gene.


non-distal monosomy 10q

description: Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported.


paranoid schizophrenia

description: A subtype of schizophrenia characterized by prominent delusions (typically persecutory or grandiose) or hallucinations in the context of a relative preservation of cognitive functioning and affect.


name: toxocara canis infection (canine roundworms)


ocular cystinosis

description: Ocular cystinosis is the benign, adult form of cystinosis, a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations.


secondary antiphospholipid syndrome

description: An antiphospholipid syndrome that occurs alongside another autoimmune disorder.


name: IgG4-related dacryoadenitis and sialadenitis

description: IgG4-related dacryoadenitis and sialoadenitis (Mikulicz disease) is an IgG4-related sclerosing disease characterized by persistent, usually painless, bilateral enlargement of the lacrimal, parotid, and submandibular glands associated with elevated levels of serum immunoglobulin (Ig) G4 and with lymphocyte and IgG4-positive plasmacyte infiltration. It predominantly causes mouth and eye dryness but can also affect other organs such as the lungs, liver, and kidneys, and be accompanied by complications such as autoimmune pancreatitis (AIP), retroperitoneal fibrosis, and tubulointerstitial nephritis.


intradermal nevus

description: A nevus characterized by the proliferation of nevus cells in the dermis without involvement of the dermal-epidermal junction.


dissociative amnesia

description: A disorder characterized by a retrospective gap in memory of important personal information, usually of a traumatic or stressful nature; the memory loss far exceeds ordinary forgetfulness and is not the result of substance use or the consequence of a medical condition.


dysplasia epiphysealis hemimelica

description: Dysplasia epiphysealis hemimelica (DEH), or Trevor's disease, is a rare condition that most commonly affects the epiphysis (the end) of long bones in children. Early diagnosis and treatment are necessary to prevent joint dysfunction and deformity and may be surgical or non-surgical depending on the location and the symptoms. Due to the progressive nature of this disorder and the chance of worsening deformity, patients should be followed until skeletal maturity. The cause of dysplasia epiphysealis hemimelica is not known.


name: recombinase activating gene 1 deficiency

description: A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.


odonto-onycho-dermal dysplasia

description: A form of ectodermal dysplasia characterized by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair.


benign neoplasm of prostate

description: A benign neoplasm that involves the prostate gland.


name: epidermolysis bullosa simplex 5C, with pyloric atresia

description: A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia.


name: epidermolysis bullosa simplex 2C, localized


leukoplakia

description: A white patch or plaque on a mucous membrane that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition.


Quebec platelet disorder

description: Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds.


mixed neoplasm

description: A neoplasm composed of at least two distinct cellular populations.


name: sleep disorder, initiating and maintaining sleep


name: developmental and epileptic encephalopathy, 24

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the HCN1 gene.


FADD-related immunodeficiency

description: A rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the FADD gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance.


Brugada syndrome 3

description: Any Brugada syndrome in which the cause of the disease is a mutation in the CACNA1C gene.


trichostrongyloidiasis

description: Infection by roundworms of the superfamily trichostrongyloidea, including the genera trichostrongylus; ostertagia; Cooperia, haemonchus; Nematodirus, Hyostrongylus, and dictyocaulus.


name: neonatal-onset severe multisystemic autoinflammatory disease with increased IL18


deafness-infertility syndrome

description: Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.


cerebral creatine deficiency syndrome

description: Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency.


name: undifferentiated pleomorphic sarcoma, inflammatory variant

description: An undifferentiated pleomorphic sarcoma characterized by the presence of numerous inflammatory cells.


Revesz syndrome

description: Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.


FNIP1-associated syndrome

description: Any immunodeficiency in which the cause of the disease is a mutation in the FNIP1 gene. Disruption of Folliculin Interacting Protein 1 alters the essential metabolic regulators AMPK and mTOR, resulting in profound B-cell deficiency, hypertrophic cardiomyopathy, and pre-excitation syndrome.


hypotrichosis 7

description: Any hypotrichosis in which the cause of the disease is a mutation in the LIPH gene.


CANOMAD syndrome

description: CANOMAD syndrome (Chronic Ataxic Neuropathy, Ophthalmoplegia, Monoclonal IgM protein, cold Agglutinins and Disialosyl antibodies) is a rare chronic immune-mediated demyelinating polyneuropathy.


lymphoproliferative syndrome 2

description: Any lymphoproliferative syndrome in which the cause of the disease is a mutation in the CD27 gene.


chromosome 19 disorder

description: Chromosomal disorder in which chromosome 19 is affected.


Mills syndrome

description: A rare, acquired motor neuron disease characterized by a slowly progressive, unilateral, ascending or descending hemplegia, associated to unilateral or asymmetrical pyramidal signs and no sensory loss. It is a diagnosis of exclusion and contorversy exists regarding whether the presence of bulbar symptoms, sphincter disturbances, fasciculations or cognitive manifestations characterize the disease.


hypomyelinating leukodystrophy 6

description: A leukodystrophy characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.


familial abdominal aortic aneurysm

description: An instance of abdominal aortic aneurysm that is caused by an inherited modification of the individual's genome.


name: calpain-3-related limb-girdle muscular dystrophy D4


name: palmoplantar keratoderma, nonepidermolytic, focal 1

description: Any nonepidermolytic palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT16 gene.


hereditary spastic paraplegia 15

description: Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding.


name: Charcot-Marie-Tooth disease, demyelinating, type 1G

description: A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs.


name: titinopathy with congenital contractures

description: A prenatal/infant-onset muscle disorder characterized by limb contractures, muscle weakness (often with significant axial involvement), long bone fractures, and/or cardiac abnormalities.


name: Langerhans cell histiocytosis specific to childhood

description: Langerhans cell histiocytosis that occurs during childhood.


name: infantile-onset generalized dyskinesia with orofacial involvement


iliac vein thrombophlebitis

description: A thrombophlebitis that involves the iliac vein.


hereditary spastic paraplegia 5A

description: Autosomal recessive spastic paraplegia type 5A (SPG5A) is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients.


familial temporal lobe epilepsy 2

description: A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has material basis in variation in the chromosome region 12q22-q23.3.


bilateral renal agenesis

description: Bilateral renal agenesis is the most profound form of renal agenesis, characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.


hereditary skin disorder

description: An instance of skin disease that is caused by a modification of the individual's genome.


spondyloperipheral dysplasia

description: A condition caused by by truncating mutations in the C-propeptide of COL2A1. Like other type II collagen disorders it is characterized by short stature, platyspondyly and epiphyseal dysplasia. A distinguishing feature is the presence of brachydactyly with a prominent first toe.


non-neoplastic nevus

description: A abnormal, congenital formation or mark on the skin or neighboring mucosa that does not show neoplastic growth.


urinary schistosomiasis

description: A bladder infection that occurs as a manifetation of a systemic infection with one or more species of the parasitic worms of the Schistosoma type; this can progress to bladder cancer in time.


EWSR1-negative small round cell tumor

description: A small cell sarcoma that is characterized by the absence of EWSR1 rearrangement and the presence of small round malignant cells with a small amount of cytoplasm.


Echovirus infectious disease

description: Infectious disease processes, including meningitis, diarrhea, and respiratory disorders, caused by echoviruses.


atrophic muscular disease

description: A group of primary or secondary disorders affecting the muscles. It is characterized by an abnormal reduction in the muscle volume and atrophy. The atrophy may be caused by diseases of the muscle tissues or diseases of the peripheral nerves.


name: leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy


name: neonatal jaundice due to ABO incompatibility

description: Jaundice that appears during the neonatal period due to high levels of unconjugated bilirubin that are a result of maternal-fetal ABO incompatibility.


neurological pain disorder

description: A nervous system disorder that has pain as a major feature.


name: relapsed/refractory diffuse large B-cell lymphoma

description: A diffuse large B-cell lymphoma characterized by less than 50 percent decrease in lesion size with induction therapy or the appearance of new lesions or the appearance of new lesions after attainment of complete remission.


benign neoplasm of minor salivary gland

description: A benign neoplasm that involves the minor salivary gland.


pulmonary vein leiomyosarcoma

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


dystonia 28, childhood-onset

description: Any dystonic disorder in which the cause of the disease is a mutation in the KMT2B gene.


name: nystagmus, congenital, autosomal recessive


chromosome 5 disorder

description: Chromosomal disorder in which chromosome 5 is affected.


description: X-linked congenital stationary night blindness (XLCSNB) is a disorder of the retina. People with this condition typically experience night blindness and other vision problems, including loss of sharpness (reduced visual acuity), severe nearsightedness (myopia), nystagmus,and strabismus. Color vision is typically not affected. These vision problems are usually evident at birth, but tend to be stable (stationary) over time. There aretwo major types of XLCSNB: the complete form and the incomplete form. Bothtypes have very similar signs and symptoms. However, everyone with the complete form has night blindness, while not all people with the incomplete form have night blindness. The types are distinguished by their genetic cause.


anismus

description: A focal dystonia of the pelvic floor muscles during attempted defecation.


brachydactyly type A1C

description: Any brachydactyly type A1 in which the cause of the disease is a mutation in the GDF5 gene.


name: intellectual disability, autosomal recessive 3

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CC2D1A gene.


name: furuncular myiasis due to Cordylobia rodhaini


rheumatic congestive heart failure

description: Heart failure secondary to rheumatic fever.


name: acute myeloid leukemia with t(8;21)(q22;q22) translocation


age related macular degeneration 8

description: Any age-related macular degeneration in which the cause of the disease is a mutation in the ARMS2 gene.


name: autosomal recessive nonsyndromic hearing loss 62

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 12p13.2-p11.23.


complete septate uterus

description: Complete septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which elongates from the uterine fundus to the internal or external cervical os. Most often women are asymptomatic, however dysmenorrhoea, unilateral obstruction, and endometriosis could be observed. Unlike urinary tract abnormalities, which are very rarely associated, poor reproductive outcome is frequent.


suppurative uveitis

description: Intraocular infection caused mainly by pus-producing bacteria and rarely by fungi. The infection may be caused by an injury or surgical wound (exogenous) or by endogenous septic emboli in such diseases as bacterial endocarditis or meningococcemia.


hereditary neurological disease

description: A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles.


name: neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies


lamellar ichthyosis

description: A keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma.


name: SLC6A3-related dopamine transporter deficiency syndrome

description: A complex movement disorder characterized by tremor, rigidity, bradykinesia, chorea, reduced facial expression, and Parkinsonism-dystonia. This disease is caused by loss of function variants in the SLC6A3 gene, which impair the dopamine transporter protein. The onset of this disease ranges from infancy to adulthood.


name: hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

description: The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI.


acrodermatitis chronica atrophicans

description: An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis.


X-linked reticulate pigmentary disorder

description: X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature.


name: autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation

description: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation is a rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms.


cardiac anomalies-heterotaxy syndrome

description: Cardiac anomalies-heterotaxy syndrome is characterized by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported.


idiopathic CD4 lymphocytopenia

description: A rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/B5L on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed.


name: deficiency of coenzyme q cytochrome c reductase


thalassemia minor

description: The inheritance of only one mutated beta-globin allele (beta+ or beta0).


gestational diabetes insipidus

description: A form of diabetes insipidus that manifests during pregnancy (or in some cases, after pregnancy). It is characterized by theappearance of a polyuric-polydipsic syndrome that resultsin fluid intake ranging from 3 to 20 L/day. It is also charac-terized by excretion of abnormally high volumes of dilutedurine. This polyuria is insipid, i.e., the urine concentrationof dissolved substances is very low.


preeclampsia/eclampsia 5

description: Any preeclampsia in which the cause of the disease is a mutation in the CORIN gene.


name: hereditary sensory neuropathy-deafness-dementia syndrome

description: A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has material basis in heterozygous mutation in the DNMT1 gene on chromosome 19p13.


autosomal dominant hypocalcemia 2

description: An autosomal dominant hypocalcemia disease that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13.


generalized peeling skin syndrome

description: Generalized peeling skin syndrome (PSS) is a form of PSS presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form. PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy.


Pasteurella hemorrhagic septicemia

description: Any of several bacterial diseases, usually caused by pasteurella multocida, marked by the presence of hemorrhagic areas in the subcutaneous tissues, serous membranes, muscles, lymph glands, and throughout the internal organs. The diseases primarily affect animals and rarely humans.


name: spondylocostal dysostosis 1, autosomal recessive


seizures, benign familial neonatal, 2

description: Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ3 gene.


name: autosomal recessive nonsyndromic hearing loss 7

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene.


progeroid syndrome

description: A group of rare genetic disorders which mimic physiological aging, making affected individuals appear to be older than they are.


name: microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome


giant axonal neuropathy

description: A rare inherited disorder affecting the neurofilaments. It is caused by mutations in the GAN gene. It is characterized by the presence of abnormally large nerve cell axons. Signs and symptoms include difficulty walking, sensory disturbances, lack of motor coordination and abnormal reflexes in the limbs.


Charcot-Marie-Tooth disease type 1A

description: Charcot-Marie-Tooth disease type 1A (CMT1A) is a type ofinherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused byhaving an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy ; occupational therapy ; braces and other orthopedic devices; orthopedic surgery;and pain medications.


name: alopecia - contractures - dwarfism - intellectual disability syndrome

description: Alopecia-contractures-dwarfism-intellectual disability syndrome (ACD syndrome) is a form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome.


name: rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies


dysspondyloenchondromatosis

description: Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry.