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.


cleft lip palate dysmorphism kumar type

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


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.


bullous pemphigoid

description: Bullous pemphigoid (BP) is the most common form of autoimmune bullous dermatosis.


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.


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


name: short stature-deafness-neutrophil dysfunction-dysmorphism syndrome

description: Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome is characterized by short stature, sensorineural deafness, mutism, facial dysmorphism and abnormal neutrophil chemotaxis (leading to recurrent infections).


name: developmental delay, behavioral abnormalities, and neuropsychiatric disorders


name: persistent Mullerian duct syndrome, goat

description: Persistent Mullerian duct syndrome that occurs in goat.


name: congenital heart disease ptosis hypodontia craniostosis


cardiomyopathy, hedgehogs

description: Cardiomyopathy that occurs in hedgehogs.


epidermolysis bullosa simplex

description: Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma.


ectrodactyly-polydactyly syndrome

description: A rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982.


name: autosomal recessive nonsyndromic hearing loss 29

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLDN14 gene.


benign neoplasm of penis

description: A benign neoplasm that involves the penis.


name: chronic demyelinizing neuropathy with IgM monoclonal


name: inborn disorder of the gamma-glutamyl cycle


name: polycystic kidney, cataract, and congenital blindness


name: DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion


name: mitochondrial complex III deficiency nuclear type 5

description: Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRC2 gene.


description: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy.


name: agammaglobulinemia 7, autosomal recessive

description: Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the PIK3R1 gene.


disorder of GPI anchor biosynthesis

description: A disease that has its basis in the disruption of GPI anchor biosynthetic process.


name: mitochondrial complex 1 deficiency, nuclear type 33


focal epithelial hyperplasia

description: Hyperplasia characterized by the presence of a focal proliferation of epithelial cells.


name: ataxia - deafness - intellectual disability syndrome

description: This syndrome is characterized by progressive ataxia beginning during childhood, deafness and intellectual deficit.


name: rapidly progressive primary central nervous system vasculitis

description: A subset of primary central nervous system vasculitis where disease is rapidly progressive after onset that is characterized by bilateral, multiple, large cerebral vessel lesions and multiple CNS infarctions.


name: Sjogren-Larsson-like ichthyosis without CNS or eye involvement


name: diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome


trachea sarcoma

description: A rare malignant soft tissue neoplasm that arises from the trachea.


holoprosencephaly, pig

description: Holoprosencephaly that occurs in pig.


joint laxity, familial

description: A type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility often complicated by dislocation of major joints, particularly the shoulder but in some cases the kneecap. Congenital hip dislocation has also been frequently reported. The syndrome has been described in several families. It is transmitted as an autosomal dominant trait, with high penetrance.


name: obesity, hyperphagia, and developmental delay


cleft palate-lateral synechia syndrome

description: Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner.


juvenile myoclonic epilepsy

description: Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases).


retinal melanoma

description: A melanoma affecting the retinal portion of the eye. --2003


name: dyskeratosis congenita, autosomal recessive 2

description: A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA2 on chromosome 5q35.3.


name: c11orf73-related autosomal recessive hypomyelinating leukodystrophy


pulmonary hypertension, cattle

description: Pulmonary hypertension that occurs in cattle.


acquired epidermolysis bullosa

description: Epidermolysis bullosa acquisita (EBA) is a subepidermal bullous dermatosis of autoimmune origin that was named as a result of its resemblance to hereditary forms of epidermolysis bullosa (HEB), most notably dystrophic HEB.


hypomyelinating leukodystrophy 5

description: Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit.


name: neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures


name: intellectual disability, autosomal dominant 55, with seizures


name: mesial temporal lobe epilepsy with hippocampal sclerosis

description: Mesial temporal lobe epilepsy with hippocampal sclerosis is a rare epilepsy syndrome defined by seizures originating in limbic areas of the mesial temporal lobe, particularly in the hippocampus, amygdala, and in the parahippocampal gyrus and its connections, and hippocampal sclerosis, usually unilateral or asymmetric. It is frequently associated with an initial precipitating event, such as febrile seizures, hypoxia, intracranial infection or head trauma, most often occurring in the first five years of life, followed by a latent period without seizures. Typical seizures consist of a characteristic aura that is frequently a rising epigastric sensation associated with emotional disturbances, illusions, and autonomic symptoms (widened pupils, palpitations), progressive impairment of consciousness, oro-alimentary automatisms (lip smacking, chewing, licking, tooth grinding), behavioral arrest, head deviation, dystonic postures, hand and verbal automatisms. Seizures are followed by postictal dysfunction. Initially, seizures are easily controlled with antiepileptic drugs, later they frequently become refractory and associated with progressive behavioral changes and memory deficits.


chromosome 22 disorder

description: Chromosomal disorder in which chromosome 22 is affected.


heart-hand syndrome type 3

description: Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle.


transitional meningioma

description: A WHO grade I meningioma characterized by the coexistence of meningothelial cells and fibrous architectural patterns.


myoclonus, non-human animal

description: Myoclonus that occurs in non-human animals.


uterine carcinosarcoma

description: A usually aggressive malignant neoplasm arising from the uterine corpus and less often the cervix. It is characterized by the presence of two components: a malignant epithelial component and a sarcomatous component. In the uterine corpus the epithelial component is usually glandular whereas in the cervix is usually non-glandular. Carcinosarcoma of the cervix, although it is aggressive, it may have a better prognosis compared to the uterine corpus carcinosarcoma.


name: hereditary sensory and autonomic neuropathy with deafness and global delay

description: This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay.


name: retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies

description: An autosomal dominant condition caused by mutation(s) in the ITM2B gene, encoding integral membrane protein 2B. It is characterized by progressive loss of central vision, and inner retinal dystrophy with ganglion cell abnormalities.


neuropathy, hereditary sensory, type 1F

description: Any hereditary sensory and autonomic neuropathy type 1 in which the cause of the disease is a mutation in the ATL3 gene.


name: severe X-linked intellectual disability, Gustavson type

description: Severe X-linked intellectual disability, Gustavson type is characterized by X-linked intellectual disability, microcephaly, optical atrophy with impaired vision or blindness, a severe hearing defect, facial dysmorphology, spasticity, epileptic seizures and restricted joint movement. It has been described in seven children from two generations of a Swedish family. All patients died in during early childhood.


respiratory system cancer

description: A malignant neoplasm involving the respiratory system


odontotrichomelic syndrome

description: Odontotrichomelic syndrome is characterized by malformations of all four extremities, hypoplastic nails, ear anomalies, hypotrichosis, abnormal dentition, hyperhidrosis and nasolacrimal duct obstruction. So far, it has been described in less than 10 patients. Transmission is autosomal recessive.


name: Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;

description: An autosomal recessive sub-type of Charcot-Marie-Tooth disease caused by compound heterozygous or homozygous mutation(s) in the MFN2 gene, encoding mitofusin-2. This condition is more severe and has an earlier onset as compared to Charcot-Marie-Tooth disease type 2A2A.


hypotrichosis 8

description: Any hypotrichosis in which the cause of the disease is a mutation in the LPAR6 gene.


nemaline myopathy 8

description: An autosomal recessive myopathy caused by mutations in the KLHL40 gene, encoding Kelch-like protein 40. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, and typically involves proximal muscles, the face, bulbar and respiratory muscles.


alpha-mannosidosis, domestic guinea pig

description: Alpha-mannosidosis that occurs in domestic guinea pig.


Pelger-Huet anomaly, non-human animal

description: Pelger-Huet anomaly that occurs in non-human animals.


name: multiple epiphyseal dysplasia, Al-Gazali type

description: Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia, macrocephaly and facial dysmorphism.


name: developmental and epileptic encephalopathy, 57


Seckel syndrome 4

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


name: congenital heart defects, multiple types, 2

description: Any congenital heart malformation in which the cause of the disease is a mutation in the TAB2 gene.


Bosley-Salih-Alorainy syndrome

description: Bosley-Salih-Alorainy syndrome (BSAS) is characterized by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation.


root caries

description: Dental caries involving the tooth root, cementum, or cervical area of the tooth.


nocturnal paroxysmal dystonia

description: A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night.


prosthesis-related infectious disease

description: A bacterial infection related to a device used to replace a missing body part. The infection may occur during the operation from direct contamination or post-operatively through hematogenous spread.


name: inborn disorder of pentose phosphate metabolism


name: combined pituitary hormone deficiencies, genetic form

description: Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.


name: autosomal recessive distal spinal muscular atrophy 1

description: Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features.


Niemann-Pick disease, type C2

description: Niemann-Pick disease type C2 is a rare metabolic condition that affects many different parts of the body. Although signs and symptoms can develop at any age (infancy through adulthood), most affected people develop features of the condition during childhood. Neimann-Pick disease type C2 may be characterized by ataxia (difficulty coordinating movements), vertical supranuclear gaze palsy (inability to move the eyes vertically), poor muscle tone, hepatosplenomegaly (enlarged liver and spleen), interstitial lung disease, intellectual decline, seizures, speech problems, and difficulty swallowing. Niemann-Pick disease type C2 is caused by changes (mutations) in the NPC2 gene and is inherited in an autosomal recessive manner. There is, unfortunately, no cure for Niemann-Pick disease type C2. Treatment is based on the signs and symptoms present in each person.


name: hypomagnesemia 7, renal, with or without dilated cardiomyopathy


pemphigus

description: Pemphigus is a group of rare autoimmune diseases that cause blistering of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals).This conditioncan occur at any age, but often strikes people in middle or older age. Studies have shown that some populations may be at greater risk for certain types of pemphigus. For instance, people of Jewish descent and those from India, Southeast Europe, and the Middle East are at greater risk for pemphigus vulargis, while pemphigus foliaceus is more common in North America, Turkey, and South America. Pemphigus is a chronic disease which is best controlled by early diagnosis and treatment.Treatment includes steroids to reduce inflammation,drugs that suppress the immune system responseand antibiotics to treat associated infections. There are four main types of pemphigus: Pemphigus vulgaris Pemphigus foliaceus IgA pemphigus Paraneoplastic pemphigus


acquired factor X deficiency

description: An bleeding disorder with a decreased antigen and/or activity of factor X (FX) that is acquired. Acquired factor X deficiency is a rare disorder, commonly associated with a preceding viral illness and a circulating FX inhibitor. Although multiple treatment modalities have been described with variable success, in many cases, it is a self-limited condition.


arbovirus fever

description: Arbovirosis are polymorphic diseases caused by arboviruses and are classically characterized by encephalitis and hemorrhage, however, most commonly only aspecific fever is observed.


cauda equina cancer

description: A cancer that involves the cauda equina.


name: endometrioid stromal sarcoma of the vagina

description: A rare sarcoma that arises from the vagina. This category includes low grade endometrioid stromal sarcoma and undifferentiated vaginal sarcoma.


uterine corpus adenosarcoma

description: A primary polypoid malignant neoplasm of the uterine corpus characterized by the presence of a sarcomatous mesenchymal component and a benign epithelial component. Patients usually present with abnormal vaginal bleeding. It is considered a low grade malignant neoplasm and may recur following resection.


name: palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome

description: Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterized by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The etiology is unknown.


eye neoplasm

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


focal facial dermal dysplasia

description: Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies.


description: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome is a rare genetic neurometabolic disease characterized by severe intellectual disability, spastic quadraparesis, Leber´s congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter), described on magnetic resonance imaging, have been reported. High prenatal α-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination.


name: short stature due to growth hormone qualitative anomaly

description: Short stature due to growth hormone qualitative anomaly is characterized by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive.


sick sinus syndrome 1

description: Any sick sinus syndrome in which the cause of the disease is a mutation in the SCN5A gene.


mosaic translocation Down syndrome

description: Translocation Down syndrome in which the extra (partial or total) copy of chromosome 21 attached to another chromosome is present in some of the cells of the organism.


vitiligo, domestic cat

description: Vitiligo that occurs in domestic cat.


isolated microphthalmia 7

description: Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF3 gene.


description: X-linked form of Dyggve-Melchior-Clausen disease.


congenital anemia

description: Anemia, the cause of which is present at birth.


name: chromosome 3q29 microduplication syndrome

description: 3q29 microduplication is a chromosomal abnormality associated with variable clinical findings including mild or moderate intellectual deficit and microcephaly.


name: post-bacterial disorder, non-human animal

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


name: optic atrophy 10 with or without ataxia, intellectual disability, and seizures


name: spinocerebellar atrophy with pupillary paralysis


name: hypodontia/oligodontia with orofacial cleft


name: cleft lip palate oligodontia syndactyly pili torti


name: disorder of mineral absorption and transport


acromegaloid facial appearance syndrome

description: Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome.


chromosome 9p deletion syndrome

description: Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis.


name: multiple congenital anomalies due to 14q32.2 imprinting defect

description: Multiple congenital anomalies caused by imprinting defects at 14q32.2 include Kagami-Ogata syndrome and Temple syndrome. Kagami-Ogata syndrome is characterized by typical facial features, skeletal abnormalities (including "coat-hanger ribs", and bell-shaped thorax), abdominal wall defects, and developmental delay, and is caused by defects or absence of maternally derived imprinting signals (including paternal UPD14). Temple syndrome is a less specific phenotype including intrauterine and postnatal growth restriction, hypotonia, feeding difficulties in infancy, truncal obesity, and small feet and hands. Temple syndrome is caused by defects or absence of paternally derived imprinting signals (including maternal UPD14).


name: autosomal recessive extra-oral halitosis


name: familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis

description: Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN).


dermatomyositis

description: Dermatomyositis (DM) is a type of idiopathic inflammatory myopathy characterized by evocative skin lesions and symmetrical proximal muscle weakness.


16p12.1p12.3 triplication syndrome

description: 16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers.


sublingual gland neoplasm

description: A neoplasm (disease) that involves the sublingual gland.


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

description: Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the ATP5F1A gene.


malignant testicular germ cell tumor

description: A malignant tumor predominantly affecting young men and often associated with cryptorchidism. Seminoma is the most frequently seen malignant testicular germ cell tumor, followed by embryonal carcinoma and yolk sac tumor.


name: hyperlipidemia due to hepatic triglyceride lipase deficiency

description: Hyperlipidemia due to hepatic triacylglycerol lipase deficiency is a rare, genetic hyperalphalipoproteinemia characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated.


microtriplication 11q24.1

description: Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophris, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia.


name: CDH1-related diffuse gastric and lobular breast cancer syndrome

description: Germline pathogenic or likely pathogenic variants in the CDH1 gene predispose to hereditary diffuse gastric cancer, a cancer susceptibility syndrome inherited in an autosomal dominant pattern, initially characterized by the increased risk for diffuse gastric cancer (DGC) but subsequently well documented to be associated with lobular breast cancer (LBC) in women.


benign neoplasm of lip

description: A benign neoplasm that involves the lip.


familial hyperaldosteronism type III

description: Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia.


thyrocerebrorenal syndrome

description: Thyrocerebrorenal syndrome is characterized by renal, neurologic, thyroid disease, associated with thrombocytopenia. It has been described in a brother and his sister. Intelligence was normal. It is transmitted as an autosomal recessive trait.


name: basal ganglia calcification, idiopathic, 7, autosomal recessive


autoimmune progesterone dermatitis

description: Autoimmune progesterone dermatitis (APD) is primarily characterized by a recurrent skin rash that varies in severity depending on the phase of the menstrual cycle. The rash generally appears during the second half of the cycle when levels of the hormone, progesterone, begin to rise and it subsides shortly after menstruation. Although the exact underlying cause of APD is not well understood, it is thought to involve an abnormal immune reaction (autoimmune response) triggered by a woman's own progesterone. Depending on the severity of the condition, treatment may include topical (applied to the skin) medications, systemic corticosteroids, hormone therapy to suppress the production of progesterone, and/or surgical removal of the ovaries.


name: acute encephalopathy with biphasic seizures and late reduced diffusion

description: Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a rare childhood-onset epilepsy syndrome associated with infection and characterized by a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. Neurological outcomes of AESD vary from normal to mild or severe sequelae including cerebral atrophy, mental retardation, paralysis and epilepsy.


atypical Rett syndrome

description: A neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT).


spinocerebellar ataxia type 27

description: Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia.


Leber congenital amaurosis 5

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LCA5 gene.


gastrointestinal allergy

description: A allergic disease that involves the digestive tract.


name: developmental and epileptic encephalopathy, 35


CARASIL syndrome

description: CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia.


syringomyelia, cattle

description: Syringomyelia that occurs in cattle.


name: neurodevelopmental disorder with cerebellar hypoplasia and spasticity


nephronophthisis 16

description: Any nephronophthisis in which the cause of the disease is a mutation in the ANKS6 gene.


vasoproliferative tumor of retina

description: Vasoproliferative tumor of the retina is a rare, benign, retinal vascular disease characterized by solitary or multiple, unilateral or bilateral, intra-retinal tumor(s), usually located in the peripheral infero-temporal quadrant, and often associated with sub- and intraretinal exudates, epiretinal membranes, exudative retinal detachment and cystoid macular edema, as well as, occasionally, retinal and vitreous hemorrhage. Patients may present with visual loss, floaters, and/or photopsia. Association with various conditions, such as retinitis pigmentosa, congenital retinal toxoplasmosis, retinopathy of prematurity, or coloboma, has been reported.


syndromic orbital border hypoplasia

description: Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct.


cervical carcinosarcoma

description: A mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign or malignant epithelial elements. This category includes adenosarcoma and carcinosarcoma.


name: congenital merosin-deficient muscular dystrophy 1A

description: Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.


germinomatous germ cell tumor

description: A term that refers to germinoma, seminoma, or dysgerminoma.


primary ciliary dyskinesia 21

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DRC1 gene.


dysautonomia, rabbit

description: Dysautonomia that occurs in rabbit.


name: SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome


wooly hair, autosomal recessive 3

description: Any wooly hair in which the cause of the disease is a mutation in the KRT25 gene.


hypomyelinating leukodystrophy 9

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


digital dermatitis in cattle

description: Highly contagious infectious dermatitis with lesions near the interdigital spaces usually in cattle. It causes discomfort and often severe lameness (lameness, animal). Lesions can be either erosive or proliferative and wart-like with papillary growths and hypertrophied hairs. dichelobacter nodosus and treponema are the most commonly associated causative agents for this mixed bacterial infection disease.


name: OPA1-related optic atrophy with or without extraocular features

description: Any primary mitochondrial disease in which the cause of the disease is monoallelic or biallelic variants in the OPA1 gene. While optic atrophy is present in most affected cases, OPA1 is a mitochondrial protein and thus features of this disease include abnormal mitochondrial morphology and multiple mitochondrial DNA deletions, and can affect other organ systems and. Extraocular features can include progressive sensorineural hearing impairment, cognitive impairment, peripheral neuropathy, myopathy, ragged-red muscle fibers, and exercise-induced lactic acidemia, while additional ocular features can include progressive visual loss, central scotoma, and color vision abnormalities.


microphthalmia, syndromic 11

description: Any syndromic microphthalmia in which the cause of the disease is a mutation in the VAX1 gene.


secondary Parkinson disease

description: A condition with a clinical picture similar to that of Parkinson disease, but which is caused by external factors, including medication.


Shwachman-Diamond syndrome 2

description: Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia ({1:Stepensky et al., 2017}).nnFor a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (OMIM:260400).


name: congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome


anterior ischemic optic neuropathy

description: Anterior ischemic optic neuropathy (AION) is an eye disease characterized by infarction of the optic disk leading to vision loss. It can be nonarteritic (nonarteritic anterior ischemic optic neuropathy or NAION) or arteritic, the latter being associated with giant cell arteritis (GCA; often termed temporal arteritis). Vision loss with both varieties is typically rapid (over minutes, hours, or days) and painless. Symptoms such as a general feeling of being unwell (malaise), muscle aches and pains, headaches over the temple, pain when combing hair, pain in the jaw after chewing, and tenderness over the temporal artery (one of the major arteries of the head) may be present with giant cell arteritis. At exam, visual acuity is reduced and the optic disk is swollen. In both subtypes, visual field examination is often reduced in the inferior and central visual fields. The visual loss is usually permanent, with some recovery possibly occurring within the first weeks or months. The arteritic variety is treated with corticosteroids. Treatment of the nonarteritic variety withaspirinor corticosteroids has not been helpful.


spinocerebellar ataxia 43

description: Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor.


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

description: Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.


name: mitochondrial DNA depletion syndrome 15 (hepatocerebral type)

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


hypertrichosis, dog

description: Hypertrichosis that occurs in dog.


cardioectodermal syndrome

description: Cardioectodermal syndromes are those in which phenotypic manifestations occur in the heart, skin, and/or hair. Variation in the genes of interest may occur in both an autosomal dominant inheritance pattern, or in an autosomal recessive inheritance pattern which may result in an earlier and/or more severe phenotypic presentation.


childhood kidney angiomyolipoma

description: An angiomyolipoma occurring in childhood.


hyperekplexia 2

description: Any hereditary hyperekplexia in which the cause of the disease is a mutation in the GLRB gene.


name: autosomal recessive nonsyndromic hearing loss 23

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PCDH15 gene.


name: acute myeloid leukemia, t(11;19)(q23.3;p13.3)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23.3;p13.3). (A cytogenetic abnormality that refers to the translocation of the long arm (q23.3) of chromosome 11 and the short arm (p13.3) of chromosome 19. It is associated with KMT2A (MLL)/MLLT1 (ENL) fusions and acute myeloid leukemia.)


Meier-Gorlin syndrome

description: Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure).


schizophreniform disorder

description: A disorder that differs from schizophrenia specifically in total duration (schizophreniform disorder lasts at least 1 month but less than 6 months whereas schizophrenia lasts at least 6 months); schizophreniform disorder also typically causes less impairment in the individual's social and occupational functioning.


retinitis pigmentosa 33

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the SNRNP200 gene.


name: atypical hemolytic-uremic syndrome with thrombomodulin anomaly


sympathetic ophthalmia

description: Sympathetic ophthalmia (SO) is a bilateral granulomatous anterior uveitis usually occurring within the three months following trauma or a surgical procedure involving one eye.


cutaneous syphilis

description: Cutaneous lesions arising from infection with Treponema pallidum. In the primary stage, 18-21 days following infection, one or more chancres appear. If untreated, the subsequent stages of the disease appear as syphilids. These eruptions are superficial, nondestructive, exanthematic, transient, macular roseolas that may later be maculopapular or papular polymorphous or scaly, pustular, pigmented eruptions.(Arnold, Odom, and James, Andrew's Diseases of the Skin, 8th ed, p409)


congenital aortic valve stenosis

description: Aortic valve stenosis that is present at birth.


juvenile xanthogranuloma

description: A benign histiocytic tumor that occurs during childhood; it is distinct from Langerhans cell histiocytosis. It is characterized by the presence of lipid-laden, foamy histiocytes and Touton-type giant cells in the dermis. The lesions usually develop during infancy. They consist of cutaneous papules and nodules (most often in the head and neck). It is sometimes associated with deep soft tissues nodules.


choroiditis

description: An inflammatory process that affects the choroid.


benign osteogenic neoplasm

description: A non-metastasizing bone-forming neoplasm. This category includes osteoma, osteoid osteoma, and osteoblastoma.


name: rhabdomyosarcoma with mixed embryonal and alveolar features

description: A rhabdomyosarcoma composed of embryonic and alveolar components. It is characterized by the presence of spindle cells with myoblastic differentiation, a myxoid stroma, and fibrous septa. These tumors were previously considered variants of alveolar rhabdomyosarcoma. The lack of PAX3-FOXO1 fusions in most of these tumors suggests that are biologically and clinically related to embryonal rhabdomyosarcoma.


acquired fructose intolerance

description: Acquired fructose intolerance is a condition in which the body can not properly absorb the sugar, fructose. As a result, affected people may experience gastrointestinal symptoms, such as gas, abdominal pain, bloating and/or diarrhea, depending on the quantity of fructose consumed and the presence of other sugars ingested with it. Gastrointestinal symptoms related to acquired fructose intolerance appear to be more common in people who have an underlying functional bowel disorder such as irritable bowel syndrome. The underlying cause of the condition is poorly understood. It is distinct from the rare, genetic form of fructose intolerance (called hereditary fructose intolerance), which usually develops earlier in life and often affects more than one family member. Acquired fructose intolerance is generally managed with dietary modifications.


description: A rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated.


name: immunodeficiency 80 with or without congenital cardiomyopathy

description: An autosomal recessive immunologic disorder with variable manifestations. One patient with infantile-onset of chronic cytomegalovirus (CMV) infection associated with severely decreased NK cells has been reported. Another family with 3 affected fetuses showing restrictive cardiomyopathy and hypoplasia of the spleen and thymus has also been reported.


holoprosencephaly, sheep

description: Holoprosencephaly that occurs in sheep.


name: intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities


name: subvalvular aortic stenosis, non-human animal

description: Subvalvular aortic stenosis that occurs in non-human animals.


description: Mullerian derivatives-lymphangiectasia-polydactyly syndrome is characterized by prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, postaxial polydactyly and cryptorchidism. Mullerian duct remnants, lymphangiectasis, and renal anomalies are also present. Three cases have been described. A small penis was observed in two of these cases. The syndrome is likely to be an autosomal recessive or X-linked trait. All the reported patients died neonatally of hepatic failure.


tuberculous oophoritis

description: An urogenital tuberculosis involving a pathogenic inflammatory response in the ovary.


2q33.1 microdeletion syndrome

description: 2q33.1 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features include high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioral problems (e.g. hyperactivity, chaotic/repetitive behavior, touch avoidance) are also associated.


extratemporal epilepsy

description: An epilepsy syndrome that is located in an area of the brain other than the temporal lobe.


megacolon, rabbit

description: Megacolon that occurs in rabbit.


name: partial deletion of the long arm of chromosome 11

description: A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 11.


focal, segmental or multifocal dystonia

description: A rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions.


benign metastasizing leiomyoma

description: A rare disorder that affects women with a history of uterine leiomyoma, which is found to metastasise within extrauterine sites.The disease develops as a proliferation of multiple nodules composed of smooth muscle cells.The most frequent site of metastasis is the lungs, although other areas may also be affected as well, including some atypical locations, e.g. the heart or spinal cord.


name: melanoma, cutaneous malignant, susceptibility to, 3


distal monosomy 14q

description: Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and oftalmological anomalies were also reported.


name: syndromic X-linked intellectual disability Raymond type

description: A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has material basis in mutation in the ZDHHC9 gene on chromosome Xq26.1.