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

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


name: segmental progressive overgrowth syndrome with fibroadipose hyperplasia

description: A rare PIK3CA-related overgrowth syndrome disease characterized by segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth. Overgrowth severity and range is highly variable, although frequently it is asymmetric and disproportionate, it affects lower extremities more than the upper ones, and progresses in a distal to proximal patten. Congenital overgrowth is typically associated.


name: disorder of glycosylation, non-human animal

description: Disorder of glycosylation that occurs in non-human animals.


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: factors VIII, IX and XI, combined deficiency of


name: spastic paraplegia with associated extrapyramidal signs


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: Leber hereditary optic neuropathy, non-human animal

description: Leber hereditary optic neuropathy that occurs in non-human animals.


name: ciliary dyskinesia with excessively long cilia


inflammatory disease, non-human animal

description: Inflammatory disease that occurs in non-human animals.


placenta disorder

description: A disease involving the placenta.


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.


name: B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome


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.


alopecia areata, domestic cat

description: Alopecia areata that occurs in domestic cat.


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)


name: giant axonal neuropathy, non-human animal

description: Giant axonal neuropathy that occurs in non-human animals.


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: deafness progressive cataract autosomal dominant


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.


Budd-chiari syndrome, dog

description: Budd-Chiari syndrome that occurs in dog.


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.


posterior hypospadias

description: Posterior hypospadias is a rare, non-syndromic, urogenital tract malformation characterized by an ectopic urethral meatus opening located in the posterior penis, the penoscrotal junction, the scrotum or the perineum, which often appears stenotic. The scrotum might appear bifid in severe cases and micropenis is not commonly associated. Urinary tract malformations, such as ureteropelvic junction obstruction, vesicoureteric reflux, pelvic or horseshoe kidney, crossed renal ectopia, renal agenesis, may be observed.


name: corpus callosum agenesis-abnormal genitalia syndrome

description: Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (large eyes, prominent supraorbital ridges, synophris) and optic atrophy have been observed.


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.


name: microphthalmia, isolated, with corectopia


radial hemimelia, non-human animal

description: Radial hemimelia that occurs in non-human animals.


benign neoplasm of prostate

description: A benign neoplasm that involves the prostate gland.


mast cell activation syndrome

description: A clinically defined disease states with a largely unknown morphological background. Acute mast cell activation (MCA) is commonly seen in allergic reactions and often leads to the clinical signs and symptoms of anaphylaxis. Severe or even life‐threatening MCA may occur when the burden of mast cells is high and/or these cells are in an hyperactivated state. Mastocytosis may be associated with mast cell activation syndrome (MCAS).


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.


peripheral neuropathy, non-human animal

description: Peripheral neuropathy that occurs in non-human animals.


psychiatric disorder, non-human animal

description: Psychiatric disorder that occurs in non-human animals.


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: lethal congenital contracture syndrome 6

description: Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ZBTB42 gene.


name: microtia with meatal atresia and conductive deafness


FRAXF syndrome

description: FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established.


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.


name: multiple acyl-CoA dehydrogenase deficiency, horse

description: Multiple acyl-coa dehydrogenase deficiency that occurs in horse.


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: sternum, premature obliteration of sutures of


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.


name: developmental delay, impaired speech, and behavioral abnormalities


name: arthrogryposis multiplex congenita 2, neurogenic type

description: Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy.


name: fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies


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.


hydrarthrosis

description: Accumulation of watery fluid in the cavity of a joint. (Dorland, 27th ed)


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.


retinal vascular occlusion

description: An occlusion of the retinal vasculature.


name: vas deferens, congenital bilateral aplasia of, X-linked


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.


babesiosis

description: Babesiosis refers to a condition caused by microscopic parasites that infect the red blood cells. Many people who are infected with Babesia parasites do not experience any symptoms of the condition. When present, signs and symptoms may include flu-like symptoms such as fever, chills, headache, body aches, nausea and fatigue. In severe cases, babesiosis can be associated with hemolytic anemia. Babesia parasites are primarily spread by infected ticks. Treatment is generally only required in people who develop symptoms of the condition. When necessary, affected people are often prescribed a combination of antimicrobial medications along with supportive care to manage symptoms.


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.


name: muscular hypoplasia, congenital universal, of Krabbe


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.


orchitis, non-human animal

description: Orchitis that occurs in non-human animals.


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.


ACD-related telomere biology disorder

description: A complex set of inherited conditions caused by a pathogenic variant(s) in the ACD gene that results in aberrant telomere biology.


name: retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome


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.


name: richieri-costa guion-almeida cohen syndrome


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.


hypertrichosis, cattle

description: Hypertrichosis that occurs in cattle.


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: acute myeloblastic leukemia without maturation

description: An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils. (WHO, 2001)


microphthalmia, cattle

description: Microphthalmia that occurs in cattle.


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).


acute graft versus host disease

description: A syndrome of immunologically mediated tissue damage that may occur following an allogeneic transplant, usually affecting the skin, liver, and GI tract. The onset is usually within one hundred days of transplantation or immunologic manipulation.


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.


name: pestivirus infectious disease, non-human animal

description: Pestivirus infectious disease that occurs in non-human animals.


name: ectodermal dysplasia/skin fragility syndrome, dog

description: Ectodermal dysplasia/skin fragility syndrome that occurs in dog.


serotonin syndrome

description: Serotoninergic syndrome is characterized by an excess of serotonin in the central nervous system, associated with the use of various agents, including selective serotonin reuptake inhibitors (SSRIs).


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


name: cataract, congenital, with mental impairment and dentate gyrus atrophy


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.


name: autosomal recessive congenital ichthyosis 5

description: An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has material basis in homozygous mutation in the CYP4F22 gene on chromosome 19p13.


name: neurometabolic disorder due to serine deficiency

description: Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency.


name: congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome


name: post-COVID-19 disorder, non-human animal

description: Post-Covid-19 disorder that occurs in non-human animals.


atypical lichen myxedematosus

description: Atypical lichen myxedematosus is an intermediate form of lichen myxedematosus (LM) (a form of mucin dermal deposit) which does not meet the criteria for either scleromyxedema or the localized form. Three clinical subtypes have been described and include scleromyxedema without monoclonal gammopathy; localized forms with monoclonal gammopathy and/or systemic symptoms; localized forms with mixed features of the 5 subtypes of localized LM (discrete form, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and a pure nodular form). The course of atypical LM is unpredictable because only a few cases have been reported.


bullous pemphigoid, Rhesus monkey

description: Bullous pemphigoid that occurs in Rhesus monkey.


brachydactyly type A1D

description: Any brachydactyly type A1 in which the cause of the disease is a mutation in the BMPR1B gene.


odontomicronychial dysplasia

description: Odontomicronychial dysplasia is a rare, hereditary ectodermal dysplasia syndrome characterized by involvement of teeth and nails - precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails.


anotia, cattle

description: Anotia that occurs in cattle.


name: X-linked intellectual disability, Cilliers type

description: X-linked intellectual deficit, Cilliers type is characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears).


name: autosomal dominant distal renal tubular acidosis

description: Autosomal dominant distal renal tubular acidosis (AD dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia.


enamel caries

description: A dental caries that involves the enamel.


Brugada syndrome 9

description: Any Brugada syndrome in which the cause of the disease is a mutation in the KCND3 gene.


name: hypopituitarism, congenital, with central diabetes insipidus


chromomycosis

description: Chromomycosis is a chronic cutaneous and subcutaneous fungal infection, found mainly in subtropical and tropical areas (in soil and plant debris and transmitted by traumatic inoculation), and characterized clinically by slow growing, verrucous nodules, squamous plaques, or chronic limited lesions which are most commonly found on the lower limbs and which are characterized histologically by the presence of muriform cells. It is caused by dematiaceous fungi, with the main etiological agents being Fonsecaea pedrosoi, Phialophora verrucosa and Cladophialophora carrionii. Rarely, it can be caused by Rhinocladiella aquaspersa.


vulvar liposarcoma

description: A rare malignant adipose tissue neoplasm of the vulva.


name: generalized epilepsy with febrile seizures plus, type 1


hypertrichosis of eyelid

description: A hypertrichosis (disease) that involves the eyelid.


papillary urothelial hyperplasia

description: A type of hyperplasia that is characterized by variable thickening of the urinary tract epithelium and a slight papillary growth. The latter is not associated with the presence of fibrovascular cores. There is no evidence of atypia. The relationship between this lesion and papillary urothelial neoplasia is not clear. -- 2003


orthostatic hypotension 1

description: A very rare primary monoamine neurotransmitter synthesis disorder with norepinephrine and adrenaline deficiency that leads to young-onset severe orthostatic hypotension and eyelid ptosis.


name: combined oxidative phosphorylation defect type 7

description: Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life.


name: glycogen storage disease due to phosphoglycerate kinase 1 deficiency

description: Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities.


neoplastic disease or syndrome

description: Either an isolated neoplasm or a syndrome with neoplasm as a major feature.


name: acute myeloid leukemia, inv(16)(p13.3;q24.3)

description: Any acute myeloid leukemia that has the chromosomal anomaly inv(16)(p13.3;q24.3). (A pericentric chromosomal inversion that involves chromosome 16. It is associated with CBFA2T3/GLIS2 fusions and pediatric acute megakaryoblastic leukemia.)


description: A rare glomerular disease characterized by a pattern of glomerular injury on kidney biopsy with characteristic light microscopic changes: mesangial hypercellularity, endocapillary proliferation, and thickening of the glomerular basement membrane (GBM). On the basis of immunofluorescence (IF) the disorder is divided into C3 glomerulopathy (C3G) or immunoglobulin-mediated membranoproliferative glomerulonephritis. Through electron microscopy C3G is further divided into Dense deposit disease, with highly electrondense deposits in the glomerular basement membrane, and C3 glomerulonephritis, with mesangial, intramembranous, subendothelial and subepithelial deposits. Secondary causes (autoimmune, infectious, malignancies) are excluded.


malignant olfactory nerve neoplasm

description: A primary or metastatic malignant neoplasm affecting the olfactory nerve.


name: acute myeloid leukemia and myelodysplastic syndromes related to radiation

description: Acute myeloid leukemia and myelodysplastic syndromes related to radiation represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with radiation. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. Patients frequently present with multilineage dysplasia and cytopenias 5-10 years after exposure.


name: qualitative or quantitative defects of selenoprotein N1


ghosal hematodiaphyseal dysplasia

description: Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia.


name: blepharophimosis - intellectual disability syndrome, SBBYS type

description: Blepharophimosis-intellectual disability syndrome, SBBYS type is characterized by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested.


platelet-type bleeding disorder 18

description: Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported.


name: DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome


name: intellectual developmental disorder, autosomal recessive 76


central nervous system lupus

description: Inflammation that includes the brain, spinal cord and surrounding tissues secondary to systemic lupus erythematosus (SLE); it is associated with neurological and/or psychiatric features.


PHAVER syndrome

description: Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects.


name: leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome

description: This disease is characterized by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.


TPM3-related myopathy

description: TPM3-related myopathy is a disorder of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle γ-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, motor delay, myopathic facies, scoliosis, and sometimes respiratory involvement. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, fiber-type disproportion, and dystrophic features even in patients with the same mutation.


name: ectodermal dysplasia/skin fragility syndrome, non-human animal

description: Ectodermal dysplasia/skin fragility syndrome that occurs in non-human animals.


name: maternal hyperthermia induced birth defects

description: Maternal hyperthermia induced birth defects is a rare maternal disease-related embryofetopathy characterized by variable developmental anomalies of the fetus due to teratogenic effect of elevated maternal body temperature (resulting from febrile illness or hot environment exposure). Reported developmental anomalies include neural tube defects (spina bifida, ecephalocele, anencephaly), cardiac defects (transposition of great vessels), urogenital defects (hypospadias), abdominal wall defects, cleft lip/palate, eye defects (cataract, coloboma) or various minor anomalies (e.g., bifid uvula, preauricular pit or tag). Consensus regarding cause-effect relationship has not been reached.


progressive nodular histiocytosis

description: Progressive nodular histiocytosis is a rare, normolipemic, non-Langerhans cell histiocytosis characterized by progressive growth of multiple to disseminated, asymptomatic skin lesions that range in appearance from yellow plaques to coalescence-prone red-brown papules, nodules and pedunculated tumors up to 5 cm in size, located typically on the face, trunk and extremities (and rarely on conjuctiva and mucous membranes). Characteristic microscopic findings include a storiform spindle cell infiltrate in the deep dermis with xanthomatized macrophages and some Touton cells in the upper dermis. It is usually not associated with systemic disease.


neonatal/infantile epilepsy syndrome

description: An epilepsy sydrome that has an onset during the neonatal or infantile stage of life.


uvea neoplasm

description: A neoplasm (disease) that involves the uvea.


name: hydrocephalus, nonsyndromic, autosomal recessive 2

description: Any congenital hydrocephalus in which the cause of the disease is a mutation in the MPDZ gene.


juvenile dermatitis herpetiformis

description: Dermatitis herpetiformis in children


name: microcephaly 1, primary, autosomal recessive

description: Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the MCPH1 gene.


name: pili torti-developmental delay-neurological abnormalities syndrome

description: Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents.


arthrogryposis

description: A rare, non-progressive congenital disorder characterized by multiple joint contractures which are present at birth.


name: neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities


name: low grade fibromyxoid sarcoma with giant collagen rosettes

description: A low grade fibromyxoid sarcoma characterized by the presence of prominent collagen rosettes.


endocardial fibroelastosis, cattle

description: Endocardial fibroelastosis that occurs in cattle.


Liddle syndrome 2

description: Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1G gene.


giant axonal neuropathy 1

description: Giant axonal neuropathy (GAN) is a degenerative disorder that is characterized by a progressive motor and sensitive peripheral and central nervous system neuropathy.


coxopodopatellar syndrome

description: Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis.


name: porphyria cutanea tarda, non-human animal

description: Porphyria cutanea tarda that occurs in non-human animals.


name: muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15


Leber congenital amaurosis 2

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPE65 gene.


TREX1-related type 1 interferonopathy

description: Any type 1 interferonopathies in which the cause of the disease is a variation in the TREX1 gene. Individuals with variants in TREX1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome, chilblain lupus, or retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations.


childhood cerebellar neoplasm

description: A neoplasm that affects the cerebellum and occurs during childhood.


epidermodysplasia verruciformis

description: A rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer.


hereditary neutrophilia

description: A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has material basis in heterozygous mutation in the CSF3R gene on chromosome 1p34.


name: congenital disorder of glycosylation, type i/IIx


name: neurodevelopmental disorder with spasticity and poor growth


name: branched-chain keto acid dehydrogenase kinase deficiency

description: A rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids.


name: neurological muscular channelopathy due to a genetic sodium channel defect


ulcer disease, non-human animal

description: Ulcer disease that occurs in non-human animals.


bone marrow cancer

description: Malignant neoplasms that either originate from the bone marrow (e.g. myeloid leukemias) or involve the bone marrow as secondary-metastatic tumors (e.g. metastatic carcinomas to the bone marrow). --2003


non-psychogenic polydipsia

description: A form of primary polydipsia not caused by underlying psychiatric symptoms.


name: silver-Russell syndrome due to 11p15 microduplication


name: intellectual developmental disorder, x-linked 113


croup

description: Acute upper respiratory airways infection that results in the swelling of the larynx. It is usually caused by parainfluenza viruses. Signs include a characteristic barking cough and stridor.


lymphangiosarcoma, non-human animal

description: Lymphangiosarcoma that occurs in non-human animals.


Frank-Ter Haar syndrome

description: A syndrome defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.


osteochondrodysplasia, non-human animal

description: Osteochondrodysplasia that occurs in non-human animals.


sensory system cancer

description: A malignant neoplasm involving the sensory system


X-linked immunoneurologic disorder

description: X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males.


persistent truncus arteriosus, alpaca

description: Persistent truncus arteriosus that occurs in alpaca.


dysautonomia, non-human animal

description: Dysautonomia that occurs in non-human animals.


acute sensory ataxic neuropathy

description: Acute sensory ataxic neuropathy is a rare variant of Guillain-Barré syndrome characterized by acute onset monophasic sensory neuropathy with diminished or absent tendon reflexes, loss of proprioception, positive Romberg sign and nerve conduction features of demyelination. It presents several weeks after acute infection with paresthesias, ataxia and neuropathic pain.


chromosome 15 disorder

description: Chromosomal disorder in which chromosome 15 is affected.


name: combined oxidative phosphorylation deficiency 41


name: biliary malformation with renal tubular insufficiency


name: X-linked severe syndromic thoracic aortic aneurysm and dissection


name: autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome


isolated microphthalmia 1

description: A microphthalmia that has material basis in variation in the chromosomal region 14q32.


name: mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition


idiopathic torsion dystonia

description: Torsion dystonia for which no underlying cause has been identified.


name: combined immunodeficiency due to MALT1 deficiency

description: Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections.


name: PLIN1-related familial partial lipodystrophy


canine leukemia

description: An acute or chronic malignant (clonal) hematologic disorder, arising from hematopoietic stem cells in dogs. It is characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood.


Peters anomaly, non-human animal

description: Peters anomaly that occurs in non-human animals.


name: acinar dysplasia caused by mutation in FGF10

description: Any acinar dysplasia in which the cause of the disease is a mutation in the FGF10 gene.


name: macular dystrophy with central cone involvement


name: congenital stationary night blindness 1F

description: Any congenital stationary night blindness in which the cause of the disease is a mutation in the LRIT3 gene.


name: partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome


name: EPHB4-associated vascular malformation spectrum

description: Any vascular malformation in which the cause of the disease is a variation in the EPHB4 gene.


cone-rod dystrophy 16

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the C8orf37 gene.


equine infectious anemia

description: Viral disease of horses caused by the equine infectious anemia virus (eiav; infectious anemia virus, equine). It is characterized by intermittent fever, weakness, and anemia. Chronic infection consists of acute episodes with remissions.


autosomal dominant ichthyosis vulgaris

description: Ichthyosis vulgaris is a common skin disorder passed down through families that leads to dry, scaly skin. It often begins in early childhood. Treatment may include heavy duty moisturizers which contain chemicals that help the skin to shed normally, including lactic acid, salicylic acid, and urea. Ichthyosis vulgaris can be a nuisance, but it rarely affects overall health. The condition usually disappears during adulthood, but may return in later years. This condition is inherited in an autosomal dominant pattern.


name: male infertility due to acephalic spermatozoa


retinitis pigmentosa 74

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the BBS2 gene.


name: congenital disorder of glycosylation, type IIbb


Bardet-Biedl syndrome 12

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS12 gene.


xeroderma pigmentosum

description: Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV).


chromosome 1 disorder

description: Chromosomal disorder in which chromosome 1 is affected.


pseudohermaphroditism

description: A condition consisting of possessing the internal reproductive organs of one sex while exhibiting some of the secondary sex characteristics of the opposite sex.


name: symptomatic form of hemophilia B in female carriers

description: A form of hemophilia B (see this term) that manifests in some women with mutations in the F9 gene (Xq28), encoding coagulation factor IX.


name: cerebellar ataxia, brain abnormalities, and cardiac conduction defects


cataract 34 multiple types

description: Any cataract (disease) in which the cause of the disease is a mutation in the FOXE3 gene.


benign neoplasm of neck

description: A benign neoplasm that involves the neck.


name: autoimmune lymphoproliferative syndrome type 4

description: RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia.


relapsing polychondritis

description: A rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage with joint, ocular and cardiovascular involvement.


integumentary system disorder

description: A disease involving the integumental system.


moderate heart failure

description: Heart failure characterized by marked limitation in activity due to symptoms, even during less-than-ordinary activity, e.g. walking short distances (20b100 m). Patients with moderate heart failure are comfortable only at rest.


name: leukemia, chronic lymphocytic, susceptibility to, 2


name: hyper-IgE recurrent infection syndrome 1, autosomal dominant

description: A condition of decreased or absent presence or activity of signal transducer and activator of transcription 3 protein. Deficiency of this protein is associated with hyper-IgE syndrome.


male urethral cancer

description: A cancer involving a male urethra.


odontohypophosphatasia

description: Odontohypophosphatasia (odonto-HPP) is the least severe form of hypophosphatasia characterized by premature exfoliation of primary and/or permanent teeth and/or severe dental caries, in the absence of skeletal system abnormalities.


name: lymphoid system disorder, non-human animal

description: Lymphoid system disorder that occurs in non-human animals.


name: acute myeloid leukemia, t(3;3)(q21.3;q26.2)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(3;3)(q21.3;q26.2). (A cytogenetic abnormality that refers to the translocation where both breakpoints are on the long arm (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.)


name: partial deletion of the long arm of chromosome 6

description: Chromosome 6q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 6q deletion include developmental delay, intellectual disability, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.


RPE65-related dominant retinopathy

description: A retinopathy caused by a heterozygous gain of function variant in the RPE65 gene.


name: red cell phospholipid defect with hemolysis


name: pulmonary alveolar proteinosis with hypogammaglobulinemia

description: A primarily a lung disorder characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis (PAP) in the first months of life. Affected individuals may have normal respiratory function at birth. Development of the disorder appears to be influenced or triggered by viral infection, manifest as progressive respiratory insufficiency, confluent consolidations on lung imaging, and diffuse collection of periodic acid-Schiff (PAS)-positive material in pulmonary alveoli associated with small and nonfoamy alveolar macrophages. Patients also have hypogammaglobulinemia, leukocytosis, and splenomegaly. Many patients die of respiratory failure in infancy or early childhood; hematopoietic stem cell transplantation (HSCT) is curative. The pathogenesis may be related to abnormal function of alveolar macrophages, resulting in decreased catabolism of surfactant. The disorder results from a gain-of-function effect that particularly affects B cells and monocytes.


blepharocheilodontic syndrome 1

description: Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CDH1 gene.


name: complex cortical dysplasia with other brain malformations 7

description: Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2B gene.


Cowden syndrome 2

description: Any Cowden disease in which the cause of the disease is a mutation in the SDHB gene.


familial vesicoureteral reflux

description: Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible.


NMNAT1-related retinopathy

description: A retinopathy, typically severe and early onset, caused by biallelic variants in the NMNAT1 gene. Some patients have been reported to have spondyloepiphyseal dysplasia syndrome, including sensorineural hearing loss, intellectual disability in addition to retinopathy. However, additional studies are needed to definitively describe this disease association.


name: mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6


name: brachyphalangy, polydactyly, and tibial aplasia/hypoplasia


name: neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia


persistent truncus arteriosus, sheep

description: Persistent truncus arteriosus that occurs in sheep.


type 1 interferonopathy of childhood

description: A type 1 interferonopathy that occurs during childhood.


name: intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities

description: Any BAFopathy in which the cause of the disease is a mutation in the BCL11B gene.


name: camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia

description: Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome is an extremely rare chondrodysplastic malformation syndrome that is characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly (hammertoes) and scoliosis. A mild facial dysmorphism including a broad nose and flaring nostrils, and a mild intellectual disability were also noted. Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome has been described once in 3 siblings and is suspected to follow autosomal recessive transmission. There have been no further descriptions in the literature since 1972.


name: lissencephaly with cerebellar hypoplasia type B

description: Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb.


malignant Sertoli-Leydig cell tumor

description: A malignant form of Sertoli-leydig cell tumor.


name: autosomal dominant nonsyndromic hearing loss 9

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


Canavan disease

description: A neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay.


acute opioid poisoning

description: Acute opioid poisoning is a rare intoxication with opioids, a large group of alkaloid analgesics, mainly characterized by miosis (pinpoint pupil), respiratory depression (bradypnea/apnea) and central nervous system depression (sedation or coma). Other manifestations include hypotension, reduced bowel motility, hypothermia and hypoglycemia. Naloxone, a competitive inhibitor of the mu-opioid receptor, is a potent antagonist and is used as the antidote for opioid intoxication.


description: Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the CCND2 gene.


name: Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness


factor XI deficiency, non-human animal

description: Factor XI deficiency that occurs in non-human animals.


name: frontotemporal dementia and/or amyotrophic lateral sclerosis 1

description: Any frontotemporal dementia with motor neuron disease in which the cause of the disease is a mutation in the C9orf72 gene.


hyperlipoproteinemia type V

description: A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma chylomicrons and triglycerides contained in very-low-density lipoproteins. Type V hyperlipoproteinemia is often associated with diabetes mellitus and is not caused by reduced lipoprotein lipase activity as in hyperlipoproteinemia type I.


glioma susceptibility

description: An inherited susceptibility or predisposition to developing glioma.


bipolar II disorder

description: A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes.


spermatic cord cancer

description: A malignant neoplasm involving the spermatic cord.


name: idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy


pseudohypoaldosteronism type 2C

description: Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK1 gene.


patent ductus arteriosus, chicken

description: Patent ductus arteriosus that occurs in chicken.


sphenocavernous meningioma

description: A meningioma that affects the sphenocavernous region.


Senior-Loken syndrome 6

description: Any Senior-Loken syndrome in which the cause of the disease is a mutation in the CEP290 gene.


name: acute myeloid leukemia, MLL gene rearrangement

description: Any acute myeloid leukemia that has the chromosomal anomaly MLL gene rearrangement. (A molecular abnormality indicating rearrangement of the MLL (KMT2A) gene.)


name: muscular dystrophy, congenital, with cerebellar atrophy


typhoidal tularemia

description: A tularemia that results in bacteremia and has symptom fever, has symptom chills, has symptom myalgia, has symptom malaise, and has symptom weight loss.


name: acquired aneurysmal subarachnoid hemorrhage

description: Acquired aneurysmal subarachnoid hemorrhage is a serious, life threatening rare neurologic disease characterized by a sudden rupture of an intracranial aneurysm into the subarachnoid space. It usually presents with a sudden, severe, excruciating headache accompanied by nausea, vomiting and syncope. Other features may include focal neurological signs, third and sixth nerve palsies, seizures and cardiac failure. Early complications include rebleeding, hydrocephalus, and seizures.


antibody mediated epilepsy

description: An immune epilepsy where the underlying cause is antibody mediated.


name: Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features


name: visceral neuropathy, familial, 2, autosomal recessive


pachyonychia congenita 1

description: Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT16 gene.


atrial fibrillation, familial, 7

description: Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNA5 gene.


maternally-inherited Leigh syndrome

description: Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA.


Fontaine progeroid syndrome

description: A rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.


Usher syndrome, type 1D/F

description: Any Usher syndrome in which the cause of the disease is a mutation in the CDH23 and PCDH15 genes.


name: micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome


allescheriosis

description: A primary systemic mycosis that results in systemic fungal infection, has material basis in Pseudallescheria boydii, which results in formation of abscesses.


atypical juvenile parkinsonism

description: Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms.


name: mitochondrial complex V (ATP synthase) deficiency, nuclear type 1

description: Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATPAF2 gene.


name: mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A


benign idiopathic neonatal seizures

description: A rare neonatal epilepsy syndrome characterized by seizures without specific underlying etiology, occurring during the first days of life in infants with an otherwise normal neurological state and no family history of neonatal convulsions. The most commonly partial and clonic seizures usually last for one to three minutes. Repeated seizures may lead to status epilepticus lasting up to 20 hours. Overall, remission rates are high and neurological outcome is favorable.


otodental syndrome

description: Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss.


name: benign paroxysmal tonic upgaze of childhood with ataxia

description: Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset.


name: multifocal pattern dystrophy simulating fundus flavimaculatus

description: Multifocal pattern dystrophy simulating fundus flavimaculatus is a patterned dystrophy of the retinal pigment epithelium characterized by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease, and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age.


precancerous condition

description: A pathological process with signs indicating it may become cancerous. Representative examples include leukoplakia, dysplastic nevus, actinic keratosis, xeroderma pigmentosum, and intraepithelial neoplasia.


ribose-5-P isomerase deficiency

description: Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy.


idiopathic disease, non-human animal

description: Idiopathic disease that occurs in non-human animals.


name: type II complement component 8 deficiency

description: Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8B gene.


name: Charcot-Marie-Tooth disease axonal type 2H

description: Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement.


Desbuquois dysplasia 2

description: Any Desbuquois dysplasia in which the cause of the disease is a mutation in the XYLT1 gene.


porcine leukemia

description: Leukemia that occurs in a pig.


name: cleft palate-congenital heart defect-intellectual disability syndrome


hypomyelinating leukodystrophy 10

description: Any leukodystrophy in which the cause of the disease is a mutation in the PYCR2 gene.


name: neurodevelopmental disorder with spasticity, seizures, and brain abnormalities


trichomonal vulvovaginitis

description: An vulvovaginitis caused by infection with Trichomonas vaginalis.


stromal keratitis

description: Herpes simplex (HSV) stromal keratitis is an infectious ocular disease of either necrotizing or non-necrotizing form, due to an HSV infection, and characterized by corneal stromal necrosis, inflammation, ulceration and infiltration by leukocytes. Corneal perforation and blindness can also occur in severe cases.


name: aneurysm or dilatation of ascending aorta


ravine syndrome

description: Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies.


name: combined immunodeficiency with faciooculoskeletal anomalies

description: Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).


name: disorder of visual system, non-human animal

description: Disorder of visual system that occurs in non-human animals.


blood platelet disease

description: Disorders caused by abnormalities in platelet count or function.


aleutian mink disease

description: A slow progressive disease of mink caused by the aleutian mink disease virus. It is characterized by poor reproduction, weight loss, autoimmunity, hypergammaglobulinemia, increased susceptibility to bacterial infections, and death from renal failure. The disease occurs in all color types, but mink which are homozygous recessive for the Aleutian gene for light coat color are particularly susceptible.


van der Woude syndrome 1

description: Any van der Woude syndrome in which the cause of the disease is a mutation in the IRF6 gene.


Flynn-Aird syndrome

description: Flynn-Aird syndrome is a neuroectodermal disorder involving the nervous, cutaneous, skeletal, and glandular systems. It has been described in 10 members from five generations of one family. Clinical manifestations include eye abnormalities (cataracts, retinitis pigmentosa, and myopia), sensorineural deafness, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy and striking dental caries. Patients also present with muscle wasting, joint stiffness and bone cysts. Flynn-Aird syndrome is transmitted as an autosomal dominant trait. It shows some similarities to the syndromes of Werner, Refsum and Cockayne.


late-onset familial hypoaldosteronism

description: A rare form of familial hypoaldosteronism characterized by adult onset of subnormal plasma aldosterone with elevated plasma renin activity, hyperkalemia, metabolic acidosis, and hypotension. Signs and symptoms are typically mild, and affected individuals may be clinically asymptomatic and diagnosed only after biochemical screening.


paraurethral gland cancer

description: A malignant neoplasm involving the paraurethral gland.


diffuse lipomatosis

description: A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue. It has been associated with several genetic disorders and different clinical conditions such as liver disease, excessive alcohol intake, adrenocortical steroid therapy, and antiretroviral therapy.


name: ventricular fibrillation, paroxysmal familial, type 1


name: spondylocostal dysostosis 3, autosomal recessive

description: Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the LFNG gene.


West Nile fever

description: A mosquito-borne viral illness caused by the west nile virus, a flavivirus and endemic to regions of Africa, Asia, and Europe. Common clinical features include headache; fever; maculopapular rash; gastrointestinal symptoms; and lymphadenopathy. meningitis; encephalitis; and myelitis may also occur. The disease may occasionally be fatal or leave survivors with residual neurologic deficits. (From Joynt, Clinical Neurology, 1996, Ch26, p13; Lancet 1998 Sep 5;352(9130):767-71)


name: hyper-IgE recurrent infection syndrome 4, autosomal recessive


name: follicular lymphoma, susceptibility to, 1


chondrodysplasia Blomstrand type

description: Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality.


canine histiocytic sarcoma

description: A malignant neoplasm that affects dogs, characterized by the presence of malignant cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes.


name: multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome


name: mitochondrial complex 1 deficiency, nuclear type 12


age related macular degeneration 2

description: An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22.


acral dystrophic epidermolysis bullosa

description: Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blistering confined primarily to the hands and feet.


iminoglycinuria

description: A metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is identified fortuitously by detection of increased levels of the imino acids and glycine in the urine. It is transmitted as an autosomal recessive trait.


bronchial endocrine tumor

description: A neuroendocrine neoplasm that involves the bronchus.


tetrasomy

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


exostoses, multiple, type 2

description: This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes.


intracranial meningioma

description: A meningioma that arises within the cranial cavity.


name: obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome

description: Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterized by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established.


name: intellectual disability, autosomal recessive 61

description: An autosomal recessive non-syndromic intellectual disability that has material basis in an autosomal recessive mutation of the RUSC2 gene on chromosome 9p13.


name: partial trisomy/tetrasomy of chromosome 9


achromatopsia 3

description: Any achromatopsia in which the cause of the disease is a mutation in the CNGB3 gene.


name: severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome


familial partial lipodystrophy

description: Familial partial lipodystrophy (FPLD) is a group of rare genetic lipodystrophic syndromes characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis.


pili gemini

description: Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair.


hemangioendothelioma

description: A vascular proliferation characterized by the presence of prominent endothelial cells and the formation of vascular channels. Hemangioendotheliomas may display borderline or low grade characteristics.


geleophysic dysplasia

description: Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy'').


acquired factor XI deficiency

description: An acquired coagulation disorder characterized by the partial or complete absence of factor XI activity in the blood.


Charcot-Marie-Tooth disease type 1E

description: A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients.


name: cataract, ataxia, short stature, and intellectual disability


FG syndrome

description: FG syndrome (FGS) is a genetic condition that affects many parts of the body and occurs almost exclusively in males. 'FG' represents the surname initials of the firstindividuals diagnosed with the disorder.People withFG syndrome frequently have intellectual disability ranging from mild to severe, hypotonia, constipation and/or anal anomalies, a distinctive facial appearance, broad thumbs and great toes,alarge head compared to body size (relative macrocephaly), and abnormalities of the corpus callosum. Medical problems including heart defects, seizures, undescended testicle, and an inguinal hernia have also been reported in some affected individuals. Researchers have identified five regions of the X chromosome that are linked to FG syndrome in affected families. Mutations in the MED12 gene appears to be the most common cause of this disorder, leading to FG syndrome 1. Other genes involved with FG syndrome include FLNA (FGS2), CASK (FGS4), UPF3B (FGS6), and BRWD3 (FGS7).FGS is inherited in an X-linked recessive pattern.Individualized early intervention and educational services are important so that each child can reach their fullest potential.


name: spondyloepimetaphyseal dysplasia, matrilin-3 type

description: A spondyloepimetaphyseal dysplasia characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.


Rasmussen subacute encephalitis

description: A rare, progressive chronic inflammation of a single cerebral hemisphere that usually affects children. It is characterized by severe seizures, loss of motor skills and speech, hemiparesis, and dementia.


name: intellectual developmental disorder with or without peripheral neuropathy


persistent Mullerian duct syndrome, dog

description: Persistent Mullerian duct syndrome that occurs in dog.


neovascular glaucoma

description: Neovascular glaucoma is the most common type of secondary glaucoma, usually caused by diabetic retinopathy, central retinal vein occlusion and carotid artery obstruction but sometimes by trauma, uvietis or ocular tumors, and characterized by severe eye pain, synechial angle glaucoma, high intraocular pressure and leading to loss of vision.


AKT3-related overgrowth spectrum

description: Any overgrowth syndrome where the cause of the disease is a gain-of-function variant in the AKT3 gene.


childhood choroid plexus neoplasm

description: A neoplasm that arises from the choroid plexus in the brain and occurs during childhood.


chemotherapy-induced hypertension

description: A form of hypertension that occurs as a direct result of chemotherapy treatment


empyema

description: An accumulation of pus in a body cavity, usually the pleural space.


age-related clonal hematopoiesis

description: A precancerous condition characterized by the gradual, clonal expansion of hematopoietic stem and progenitor cells carrying specific, disruptive, and recurrent genetic variants, in individuals without clear diagnosis of hematological malignancies. It is associated with an increased risk of developing hematologic cancers.


septicemic plague

description: A plague in which the bacteria have entered the bloodstream.


name: TELO2-related intellectual disability-neurodevelopmental disorder


skull base meningioma

description: A meningioma that arises from the skull base.


Hogue-Janssens syndrome 1

description: An autosomal dominant intellectual developmental disorder that has material basis in an autosomal dominant mutation of the PPP2R5D gene on chromosome 6p21.1.


atherosclerosis, Japanese quail

description: Atherosclerosis that occurs in Japanese quail.


mosaic trisomy 4

description: Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorally rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated.


primary organ-specific lymphoma

description: A header term comprising lymphomas classified based on anatomic location.


Nidovirales infectious disease

description: Infections with viruses of the order nidovirales. The concept includes arterivirus infections and coronaviridae infections.


epithelioid cell nevus

description: A nevus characterized by the presence of large epithelioid melanocytes.


bullous pemphigoid, non-human animal

description: Bullous pemphigoid that occurs in non-human animals.


name: transposition of the great arteries, dextro-looped

description: Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the MED13L gene.


kuru

description: A prion disease found exclusively among the Fore linguistic group natives of the highlands of new guinea. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773)


xeroderma pigmentosum group D

description: Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC2 gene.


immunodeficiency 92

description: An autosomal recessive primary immunodeficiency characterized by the onset of recurrent infections in infancy or early childhood. Infectious agents are broad, including bacterial, viral, fungal, and parasitic, including Cryptosporidium and Mycobacteria. Patient lymphocytes show defects in both T- and B-cell proliferation, cytokine secretion, and overall function, and there is also evidence of dysfunction of NK, certain antigen-presenting cells, and myeloid subsets. Hematopoietic stem cell transplantation may be curative.


chronic frontal sinusitis

description: Inflammation of the frontal sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties.


chromosome 1q21.1 duplication syndrome

description: Chromosome 1q21.1 duplication syndrome is a rare condition caused by the presence of an extra copy of a small piece of chromosome 1 in the cells of the body. Signs and symptoms can vary widely among affected individuals. Some individuals have no symptoms, while others may have features such as a large head size (macrocephaly); mild to moderate developmental delay and learning difficulties; autism or autistic-like behavior; heart problems; seizures; and/or and distinctive facial features. This condition can occur sporadically as a de novo mutation (by chance) or can be inherited in an autosomal dominant manner from a parent. Treatment depends on the signs and symptoms present in each individual.


benign neoplasm of iris

description: A benign neoplasm that involves the iris.


Clostridium infectious disease

description: Infections with bacteria of the genus clostridium.


neurocristopathy, non-human animal

description: Neurocristopathy that occurs in non-human animals.


name: sensorineural hearing loss-early graying-essential tremor syndrome

description: Sensorineural hearing loss-early graying-essential tremor syndrome is characterized by the combination of sensorineural hearing loss, early graying of scalp hair and adult onset essential tremor.


name: rhizomelic dysplasia, scoliosis, and retinitis pigmentosa


canine glioma

description: A brain or spinal cord tumor arising from glial cells that occurs in dogs.


name: familial capillaro-venous leptomeningeal angiomatosis


RPGR-related retinopathy

description: A retinopathy caused by a variant in the X-linked gene, RPGR.


name: STT3A-congenital disorder of glycosylation

description: STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3).


name: congenital patent ductus arteriosus aneurysm

description: Congenital patent ductus arteriosus aneurysm is a rare, congenital, arterial duct anomaly characterized by a saccular dilatation of the ductus arteriosus. It is often asymptomatic or presents shortly after birth with respiratory distress, stridor, cyanosis and/or weak cry. Complications, such as rupture, thromboembolism, infection, airway erosion and/or compression of the adjacent thoracic structures, can develop. Spontaneous resolution has been reported.


hereditary angioedema type 2

description: Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.


name: Charcot-Marie-Tooth disease recessive intermediate C

description: Autosomal recessive intermediate Charcot-Marie-Tooth disease type C is a rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy.


metagonimiasis

description: An infection that is most commonly caused by the intestinal fluke Metagonimus yokogawai, which is most commonly found in the Far East, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection.


name: joint contractures, osteochondromas, and B-cell lymphoma