name: Charcot-Marie-Tooth disease dominant intermediate D

description: Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.


urolithiasis, kangaroo

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

description: Urolithiasis that occurs in kangaroo.


juvenile nephropathic cystinosis

description: Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes.


name: neonatal urinary tract infectious disease


MOMO syndrome

description: MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype.


name: symbrachydactyly of hand and foot, unilateral


name: familial intestinal malrotation-facial anomalies syndrome


distal monosomy 19p13.3

description: Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation).


congenital structural myopathy

description: A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills.


Bangstad syndrome

description: Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989.


Borrelia infectious disease

description: Infections with bacteria of the genus borrelia.


halo nevus

description: A benign melanocytic nevus with a halo appearance.


name: autosomal dominant nonsyndromic hearing loss 40

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


name: lymphoplasmacytic lymphoma without IgM production


X-linked cone-rod dystrophy

description: X-linked form of cone-rod dystrophy.


name: short stature-advanced bone age-early-onset osteoarthritis syndrome


perinatal disease, non-human animal

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


inverted follicular keratosis

description: Seborrheic keratosis that arises from follicular structures in the skin. It presents as a solitary nodule in the skin and is characterized by the presence of prominent squamous eddies.


inclusion conjunctivitis

description: Inflammation of the conjunctiva in a newborn due to Chlamydia trachomatis which was acquired during labor and delivery.


AA amyloidosis, pig

description: AA amyloidosis that occurs in pig.


coloboma, non-human animal

description: Coloboma that occurs in non-human animals.


name: respiratory infections, recurrent, and failure to thrive with or without diarrhea


name: alacrima, congenital, autosomal dominant


congenital panfollicular nevus

description: Congenital panfollicular nevus is a rare, benign, skin tumor disorder characterized by the presence of congenital, large (few centimeters), elevated, well-circumscribed, pink-tan, multinodular, non-ulcerative, bosselated-surface skin lesions located on the neck, scalp or hand and which enlarge with time. Histologically, hamartomatous proliferation containing irregularly arranged, malformed hair follicles in various stages of development, surrounded by fibrous tissue and densely distributed within the dermis is observed.


pontocerebellar hypoplasia type 1

description: Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death.


name: electroencephalographic peculiarity: fronto-precentral beta wave groups


name: anophthalmia esophageal atresia cryptorchidism

description: A syndrome characterized by bilateral anophthalmia, esophageal atresia, and cryptorchidism. This is an n-of-1 use case where only one patient or family has been described with this disorder.


name: trimethylaminuria (fishy taint), chicken

description: Trimethylaminuria (fishy taint) that occurs in chicken.


name: congenital pulmonary airway malformation type 3


cholesterol metabolism disease

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


name: calcific aortic disease with immunologic abnormalities, familial


name: intellectual developmental disorder with speech delay and axonal peripheral neuropathy


atrioventricular septal defect 5

description: Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA6 gene.


name: macrocephaly, acquired, with impaired intellectual development


anterior segment dysgenesis 3

description: An iridogoniodysgenesis that results from alterations in the forkhead transcription factor gene (FOXC1)


name: early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome

description: Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis.


name: glutathione transferase activity toward trans-stilbene oxide


name: neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy

description: An autosomal recessive condition caused by mutations(s) in the TAF8 gene, encoding transcription initiation factor TFIID subunit 8. It is characterized by severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy.


glycogen storage disease VII

description: Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood.


name: maternal uniparental disomy of chromosome 2

description: Maternal uniparental disomy of chromosome 2 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.


giant cell reparative granuloma

description: A rare tumor-like lesion of the hands and feet characterized by the presence of hemorrhagic fibrous tissue, hemosiderin deposition, osteoclast-like giant cells which are irregularly distributed, and reactive bone formation. Pain and swelling are the most frequent symptoms. It may recur following curettage, but is usually cured after a second procedure.


name: microcephaly, epilepsy, and diabetes syndrome 2


Dressler syndrome

description: A pericarditis characterized by inflammation, occurring after injury, located in pericardium.


holoprosencephaly 3

description: Any holoprosencephaly in which the cause of the disease is a mutation in the SHH gene.


name: congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency

description: A very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension.


pheochromocytoma, domestic cat

description: Pheochromocytoma that occurs in domestic cat.


name: neurological muscular channelopathy due to a genetic ryanodine receptor defect


exudative vitreoretinopathy 1

description: An autosomal dominant condition caused by mutation(s) in the FZD4 gene, encoding frizzled-4. It is characterized by a variable phenotype resulting from incomplete development of the retinal vasculature. Mutation(s) in the FZD4 gene, also cause a form of retinopathy of prematurity.


name: myeloperoxidase deficiency, non-human animal

description: Myeloperoxidase deficiency that occurs in non-human animals.


name: familial encephalopathy with neuroserpin inclusion bodies


verbal auditory agnosia

description: An agnosia that is a loss of the ability to recognizing spoken words as semantically meaningful.


microphthalmia, syndromic 12

description: Syndromic microphthalmia-12 is a rare disease characterized by bilateral small eyeballs (microphthalmia), lungs that are too small (pulmonary hypoplasia), and a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity (diaphragmatic hernia). Other symptoms may include: Severe global developmental delay with progressive motor impairment due to spasticity and/or uncontrolled repetitive muscular contractions (dystonia), with or without abnormal quick movements that resemble dancing (chorea), Defects of the cerebellum (Chiari type I malformation) Accumulation of cerebrospinal fluid inside the brain (hydrocephaly), Severe feeding difficulties, Mild facial dysmorphism with broad nasal root and tip, and a very small chin (micrognathia), Severe language delay, Wheelchair-bound. Syndromic microphthalmia-12 is caused by mutations in the RARB gene. There is no specific treatment for this syndrome.


name: autosomal dominant striatal neurodegeneration type 1

description: Autosomal dominant striatal degeneration is a neurologic disorder characterized by variable movement abnormalities due to dysfunction in the striatal part of the basal ganglia.


PRPS1 deficiency disorder

description: A peripheral neuropathy that is characterized by variants in PRPS1, which causes decreased or impaired function of the PRPS1 enzyme, and presents as a range of peripheral neuropathies that can include features of Charcot-Marie Tooth syndrome, Arts syndrome, or nonsyndromic hearing loss.


pleomorphic lipoma

description: A benign circumscribed tumor characterized by small spindle cells, rounded hyperchromatic cells and multinucleated giant cells with radially arranged nuclei.


rubella

description: A viral infection caused by the rubella virus. It is initially manifested with flu-like symptoms that last one or two days, followed by the development of a characteristic red rash which lasts from one to five days. The rash first appears in the neck and face. It subsequently spreads to the rest of the body.


name: branchial myoclonus with spastic paraparesis and cerebellar ataxia


uterine ligament adenosarcoma

description: An extremely rare adenosarcoma that arises from the uterine ligament.


asphyxiating thoracic dystrophy 4

description: An asphyxiating thoracic dystrophy has material basis in compound heterozygous mutation in the TTC21B gene on chromosome 2q24.


name: cardiomelic syndrome stratton Koehler type


name: microcephalic osteodysplastic primordial dwarfism, type 3


name: autosomal dominant hypohidrotic ectodermal dysplasia

description: Autosomal dominant form of hypohidrotic ectodermal dysplasia.


name: maternal uniparental disomy of chromosome 21


GM1 gangliosidosis type 2

description: GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis characterized by normal early development and psychomotor regression between seven months and three years of age.


intellectual disability, X-linked 105

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP27X gene.


name: Hao-Fountain syndrome due to USP7 mutation


Bartonellaceae infectious disease

description: Infections with bacteria of the family bartonellaceae.


name: medullomyoblastoma with myogenic differentiation

description: A rare malignant embryonal neoplasm arising from the cerebellum. It is characterized by the morphologic features of a medulloblastoma and the presence of a striated muscle component. Its clinical behavior is similar to medulloblastoma.


T-cell prolymphocytic leukemia

description: A slow-growing type of leukemia (blood cancer) in which too many lymphocytes are found in the bone marrow and/or blood. The T-cell is specified as the defective cell line.


peripheral neuropathy, pig

description: Peripheral neuropathy that occurs in pig.


name: pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome


gram-positive bacterial infections

description: Infections caused by bacteria that retain the crystal violet stain (positive) when treated by the gram-staining method.


name: partial deletion of the short arm of chromosome 5


name: osteogenesis imperfecta and a reduction of bone mineral density.

description: A skeletal dysplasia characterized by osteogenesis imperfecta and decreased bone density.


vascular neoplasm

description: A benign, intermediate, or malignant neoplasm arising from vascular tissue including arteries, veins, venous sinuses, lymphatic vessels, arterioles and capillaries. It may occur in essentially any body location and is characterized by the presence of vascular channel formation and endothelial cells.


name: partial duplication of the long arm of chromosome 22


DOORS syndrome

description: DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Isolated seizure disorders and isolated hearing loss have also been reported in individuals as a proposed spectrum of DOORS syndrome.


RCBTB1-related retinopathy

description: An autosomal recessive condition caused by mutation(s) in the RCBTB1 gene, encoding RCC1 and BTB domain-containing protein 1. It is characterized by severe retinal dystrophy. Associated extraocular abnormalities may or may not be present.


name: agammaglobulinemia 9, autosomal recessive

description: An autosomal recessive primary immunodeficiency characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells. Additional features include failure to thrive and skin involvement. The severity is variable: more severe cases may require hematopoietic stem cell transplantation, whereas others can be treated effectively with Ig replacement therapy.


Gaucher disease perinatal lethal

description: Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD).


porphyria cutanea tarda, sheep

description: Porphyria cutanea tarda that occurs in sheep.


name: craniosynostosis exostoses nevus epibulbar dermoid


name: autism spectrum disorder - epilepsy - arthrogryposis syndrome

description: SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21).


name: hypotaurinemic retinal degeneration and cardiomyopathy


pelvic inflammatory disease

description: Pelvic inflammatory disease (PID) is an acute or chronic inflammation in the pelvic cavity. It is most commonly caused by sexually transmitted diseases, including chlamydia and gonorrhea that have ascended into the uterus, fallopian tubes, or ovaries as a result of intercourse or childbirth, or of surgical procedures, including insertion of IUDs or abortion. PID may be either symptomatic or asymptomatic. It may cause infertility and it may raise the risk of ectopic pregnancy. PID is a disease associated with HIV infection.


autonomic nervous system disorder

description: A disease involving the autonomic nervous system.


branchiooculofacial syndrome

description: Branchio-oculo-facial syndrome (BOFS) is characterized by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth.


name: congenital generalized lipodystrophy type 4

description: Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAVIN1 gene.


name: autoinflammatory syndrome, familial, Behcet-like 1


name: Charcot-Marie-Tooth disease dominant intermediate F

description: Autosomal dominant intermediate Charcot-Marie-Tooth disease type F is a rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range.


acute myeloid leukemia, t(v;11q23.3)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(v;11q23.3). (A chromosomal abnormality consisting of the translocation of genetic material from any one of several chromosomes to the 11q23.3 region, resulting in an MLL gene rearrangement.)


familial cystic renal disease

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


name: frontotemporal dementia and/or amyotrophic lateral sclerosis 4

description: An amyotrophic lateral sclerosis that has material basis in mutation in the TBK1 gene on chromosome 12q14.


benign mesothelioma

description: A benign proliferative neoplasm made up of epithelial and mesenchymal cells of the mesothelium which make up part of the serosal covering and lining of various organ surfaces within the body.


name: high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement


high anorectal malformation

description: High anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies, with or without a rectourogenital fistula, located above the pubococcygeal line (i.e. anorectal agenesis, rectal agenesis, atresia, or stenosis). Patients may present with meconuria, pyuria, strangury, and fecal and urinary incontinence.


familial multiple lipomatosis

description: Familial multiple lipomatosis is a rare, benign, genetic skin disease characterized by numerous, painless, encapsulated lipomas located in the subcutaneous adipose tissue of the trunk and extremities, with relative sparing of the neck and shoulders. Association with gastroduodenal lipomatosis, brain anomalies or lipomatosis, and refractory epilepsy has been reported.


inborn disorder of proline metabolism

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


name: encephalitis/encephalopathy, mild, with reversible myelin vacuolization


factitious disorder

description: A category of psychiatric disorders which are characterized by physical or psychological symptoms that are intentionally produced in order to assume the sick role; there is no external incentive for the behavior, such as economic gain or avoiding legal responsibility, and the person is unaware of any self-motivating factors.


heart disorder

description: A disease involving the heart and/or pericardium.


14q11.2 microduplication syndrome

description: 14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate.


Togaviridae infectious disease

description: Virus diseases caused by the togaviridae.


name: partial trisomy/tetrasomy of the short arm of chromosome 5


idiopathic juvenile osteoporosis

description: Idiopathic juvenile osteoporosis (IJO) is a primary condition of bone demineralization childhood or adolescence that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis. Onset usually occurs in the prepubertal period, between 8 and 12 years of age.


name: night blindness, congenital stationary, type1i


nodular non-suppurative panniculitis

description: Nodular non-suppurative panniculitis, known as Weber-Christian disease (WCD), is a rare skin disorder characterized by recurring inflammation in the subcutaneous layer of fat.


name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4

description: Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the POLG2 gene.


autoimmune atherosclerosis

description: An autoimmune form of atherosclerosis.


chromosome 1q21.1 deletion syndrome

description: 1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.


amelanotic skin melanoma

description: A amelanotic melanoma that involves the zone of skin.


autism spectrum disorder, zebra finch

description: Autism spectrum disorder that occurs in zebra finch.


name: immune system disorder, non-human animal

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


name: developmental and epileptic encephalopathy, 83


name: Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia

description: A hereditary disorder characterized by disproportionate short stature, a relatively large head, and a long triangular face early in life. This phenotype later evolves to one with in which the head is relatively small, the mandible is large and pointy. The affected individuals have normal cognitive abilities and lack any neurological deficits. Other typical features include a prominent nose, a voice with an unusual high-pitched sound, relatively small ears, curved digits (clinodactyly), short bones in fingers and toes (brachydactyly), small hands, underdeveloped (hypoplastic) fingernails, a waddling gait, and sparse hair post-pubertally.


name: agammaglobulinemia 4, autosomal recessive

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


name: metabolic myopathy due to lactate transporter defect

description: Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase.


tremor, hereditary essential, 1

description: Any essential tremor in which the cause of the disease is a mutation in the DRD3 gene.


Bacillaceae infectious disease

description: Infections with bacteria of the family bacillaceae.


name: colorectal cancer, susceptibility to, 12

description: Any colorectal cancer in which the cause of the disease is a mutation in the POLE gene.


name: congenital muscular dystrophy with cataracts and intellectual disability

description: A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13.


MEHMO syndrome

description: MEHMO syndrome is characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localized to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.


congenital myotonic dystrophy

description: Myotonic dystrophy that is present at birth.


name: heterotaxy, visceral, 11, autosomal, with male infertility


tick-borne infectious disease

description: Bacterial, viral, or parasitic diseases transmitted to humans and animals by the bite of infected ticks. The families Ixodidae and Argasidae contain many bloodsucking species that are important pests of man and domestic birds and mammals and probably exceed all other arthropods in the number and variety of disease agents they transmit. Many of the tick-borne diseases are zoonotic.


Rift valley fever

description: Rift Valley fever (RVF), caused by the Rift Valley fever virus (RVFV), is an arbovirus characterized by a usually self-limiting febrile illness but that in some cases can also manifest with thrombosis, vision loss, hemorrhages and/or neurological symptoms.


name: mosaic genome-wide paternal uniparental disomy


description: A malignant neoplasm of the ovary characterized by the presence of malignant glandular cells resembling endometrial cells in a fibrotic stroma.


name: spastic paraplegia 85, autosomal recessive


lower respiratory tract disorder

description: A disease involving the lower respiratory tract.


mosaic trisomy 13

description: Trisomy 13 in which the presence of an extra copy of chromosome 13 is present only in some of the cells of the organism.


glycogen storage disease XV

description: Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle.


cutaneous leukocytoclastic angiitis

description: Cutaneous leukocytoclastic angiitis is a small-vessel vasculitis presenting with palpable purpura and urticarial lesions which predate the purpuric lesions most frequently observed on the legs. Systemic symptoms including fever, cough, hemoptysis, sinusitis, arthralgia, arthritis, myalgia, abdominal pain, diarrhea, hematochezia, paresthesia, weakness, and hematuria may be observed. Skin biopsy reveals exudates rich in neutrophils, endothelial damage, fibrin deposition, and leukocytoclasis in postcapillary venules of small vessels. Cutaneous leukocytoclastic angiitis can be idiopathic (in up to 50% of cases) or secondary to infections, medications (such as antituberculosis medication), collagen vascular diseases, or neoplasms.


isolated foveal hypoplasia

description: A rare macular disorder characterized mostly by a variable degree of decreased visual acuity, jerk or pendular nystagmus, and typical ocular findings at imaging. The disease is usually bilateral. Rarely, nystagmus can be absent. Locally, the disease is characterized by underdeveloped foveal pit, absence of foveal pigmentation and/or foveal avascular zone, and persistence of inner retinal layers at the fovea, in absence of concomitant ocular or systemic pathology.


description: Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia.


hypercholanemia, familial 1

description: A very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent.


Axenfeld-Rieger syndrome type 2

description: An Axenfeld-Rieger syndrome that has material basis in deletions in the region 13q14.


name: acute myeloid leukemia, KIT gene mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly KIT gene mutation. (A molecular genetic abnormality that refers to mutation of the c-kit (CD117) proto-oncogene. It is associated with the development of gastrointestinal stromal tumor and gastrointestinal autonomic nerve tumor. It has also been described in acute myeloid leukemias, dysgerminomas, and seminomas.)


anterior segment dysgenesis 4

description: Any iridogoniodysgenesis in which the cause of the disease is a mutation in the PITX2 gene.


name: spondyloepimetaphyseal dysplasia-abnormal dentition syndrome

description: A rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features.


cauda equina syndrome, dog

description: Cauda equina syndrome that occurs in dog.


name: extralobar congenital pulmonary sequestration


name: cone dystrophy, X-linked, with tapetal-like sheen


allergic cutaneous vasculitis

description: Inflammation of the small vessels of the skin that is mediated by the immune system.


name: lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis


porphyrin metabolism disease

description: A disease that has its basis in the disruption of porphyrin-containing compound metabolic process.


name: autosomal dominant keratitis-ichthyosis-hearing loss syndrome

description: Autosomal dominant form of KID syndrome.


name: fibrosis of extraocular muscles, congenital, with synergistic divergence


ectopic thymus

description: A condition in which the thymus gland is abnomally located; this can be secondary to failure of descent during fetal development, or failure of involution.


auriculocondylar syndrome 1

description: Any auriculocondylar syndrome in which the cause of the disease is a mutation in the GNAI3 gene.


name: severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome

description: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy).


childhood leukemia

description: An acute or chronic leukemia that occurs during childhood.


description: This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family.


name: atypical hemolytic-uremic syndrome with B factor anomaly


traumatic encephalopathy

description: Encephalopathy resulting from trauma.


Coffin-Siris syndrome 1

description: Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1B gene.


HELIOS deficiency

description: A non-severe combined immunodeficiency caused by a loss-of-function variation in the IKZF2 gene that is characterized by recurrent upper respiratory infections, thrush and mucosal ulcers, and chronic lymphadenopathy.


pheochromocytoma, non-human animal

description: Pheochromocytoma that occurs in non-human animals.


localized scleroderma

description: Localized scleroderma is the skin localized form of scleroderma characterized by fibrosis of the skin causing cutaneous plaques or strips.


orbit neoplasm

description: A benign or malignant neoplasm that affects the orbit.


name: multiple epiphyseal dysplasia due to collagen 9 anomaly

description: Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported.


focal segmental glomerulosclerosis 2

description: Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the TRPC6 gene.


description: Post-transplant lymphoproliferative disorder (PTLD) is a polyclonal (benign) or clonal (malignant) proliferation of lymphoid cells that develops as a consequence of immunosuppression in a recipient of a solid organ or bone marrow allograft. PTLDs comprise a spectrum ranging from early, Epstein-Barr virus (EBV)-driven polyclonal lymphoid proliferations to EBV-positive or EBV- negative lymphomas of predominantly B-cell or less often T-cell type. (WHO, 2001)


inborn disorder of ketolysis

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


digenic alpha thalassemia spectrum

description: An instance of alpha thalessemia spectrum that is caused by an inherited multiallelic modification in an individual.


typhus

description: A group of infectious diseases that include epidemic typhus, scrub typhus and murine typhus.


name: lysosomal storage disease, non-human animal

description: Lysosomal storage disease that occurs in non-human animals.


bilateral meningioma of optic nerve

description: Meningiomas that affects both optic nerves.


autosomal recessive osteopetrosis 2

description: Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFSF11 gene.


congenital eyelid retraction

description: Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips.


familial nasal acilia

description: Familial nasal acilia is a rare genetic otorhinolaryngologic disease characterized by respiratory morbidity due to lack of cilia on the respiratory tract epithelial cells. The disease manifests from birth with respiratory distress, neonatal pneumonia, dyspnea, lobar atelectasis and bronchiectasis. Recurrent infections of the upper and lower respiratory tract, chronic humid coughing, and chronic sinusitis, otitis and rhinitis are typical lifelong presenting conditions.


name: mixed endometrial stromal and smooth muscle tumor

description: A benign or malignant mesenchymal neoplasm of the uterine corpus. Representative examples include leiomyoma, leiomyosarcoma, and endometrial stromal sarcoma.


cellular leiomyoma

description: A morphologic variant of classic leiomyoma characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern.


Grant syndrome

description: Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986.


name: auditory neuropathy-optic atrophy syndrome


name: disorder of fatty acid and ketone body metabolism


malignant conjunctival melanoma

description: A malignant melanoma within the conjunctiva of the eye.


refractory cytopenia of childhood

description: The most common subtype of the myelodysplastic syndromes affecting children. It is characterized by persistent cytopenia with less than 5% blasts in the bone marrow and less than 2% blasts in the peripheral blood.


name: familial severe combined immunodeficiency


ulcer of lower limbs

description: Ulcer of lower limbs is a chronic ulcer of skin where the ulcer is not a decubitus ulcer.


primary orthostatic tremor

description: Primary orthostatic tremor (POT), or ``shaky legs syndrome'', is a rare movement disorder characterized by fast, task-specific tremor, affecting the legs and trunk while standing.


Thomas syndrome

description: Thomas syndrome is characterized by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive.


protein-deficiency anemia

description: Anemia associated with inadequate protein intake.


hereditary neuromuscular disease

description: A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that is characterized by progressive muscle degeneration and weakness.


Joubert syndrome 14

description: Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM237 gene.


malignant urinary system neoplasm

description: A primary or metastatic malignant tumor involving the urinary system. Common tumor types include carcinomas, lymphomas, and sarcomas.


name: myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies


name: mitochondrial intermembrane space protein Tim12, yeast, homolog of


name: congenital disorder of glycosylation, type IIr


name: idiopathic macular telangiectasia type 1

description: A rare, acquired, eye disease characterized by unilateral (rarely bilateral) abnormally dilated and tortuous capillaries around the fovea, associated with multiple arteriolar and venular aneurysms, lipid depositions, and intra-retinal cystoid degeneration. It leads to vision loss due to macular edema with hard exudates.


acquired secondary polycythemia

description: An instance of secondary polycythemia that is acquired during the lifetime of the individual.


myoclonus, familial

description: A rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most of cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent.


description: A rare genetic cerebral small vessel disease characterized by an adult-onset primary microangiopathy with severe atherosclerosis of arterioles and secondary leukoencephalopathy. Patients may present with migraine, transient ischemic attacks, stroke with central facial palsy, cognitive dysfunction with impaired concentration, dementia, depression, movement disorder, vertigo, dysphagia, dysarthria, sicca syndrome, impaired REM sleep, and therapy-resistant hypertension, among others. Brain MRI typically shows a leukoencephalopathy that is disproportionately severe and extensive compared to the clinical disease.


pinnae fistula or cyst

description: Pinnae fistula or cyst is a rare otorhinolaryngological malformation characterized by the presence of a, usually unilateral, sinus tract or cyst located in the vicinity of the auricle (most frequently identified by a small pit near the anterior margin of the first ascending portion of the helix). Typically, patients are asymptomatic and usually only present symptoms (pain, erythema, discharge from pit) in relation to infection. Renal and inner ear anomalies may be associated.


nervous system injury

description: Traumatic injuries to the brain, cranial nerves, spinal cord, autonomic nervous system, or neuromuscular system, including iatrogenic injuries induced by surgical procedures.


name: isolated growth hormone deficiency type II


endocrine gland neoplasm

description: A benign or malignant neoplasm arising from the epithelial cells of an endocrine organ. Representative examples include pituitary gland adenoma, pituitary gland carcinoma, thyroid gland carcinoma, carcinoid tumor, and neuroendocrine carcinoma.


name: Erysipelothrix rhusiopathiae infectious disease

description: A disease caused by infection with Erysipelothrix rhusiopathiae.


parasitemia

description: The presence of parasites (especially malarial parasites) in the blood. (Dorland, 27th ed)


ataxia with oculomotor apraxia type 3

description: An autosomal recessive cerebellar ataxia caused by mutation(s) in the PIK3R5 gene, encoding phosphoinositide 3-kinase regulatory subunit 5. It is characterized by oculomotor apraxia and distal muscle atrophy and weakness, predominantly affecting the lower limbs.


name: muscular dystrophy, progressive Pectorodorsal


description: A rare primary lymphedema characterized by extensive, multisegmental lymphedema, associated with persistent, widespread infections with various genital high- and low-risk human papillomaviruses, resulting in multifocal anogenital dysplasia. Laboratory examination shows abnormalities in lymphocyte subsets, in particular CD4+ T-cells. Epidermal nevi and capillary malformations have also been reported.


name: polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1


hyperparathyroidism, domestic cat

description: Hyperparathyroidism that occurs in domestic cat.


name: flat face-microstomia-ear anomaly syndrome

description: Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994.


Peptostreptococcus infectious disease

description: A disease caused by infection with Peptostreptococcus.


serositis, non-human animal

description: Serositis that occurs in non-human animals.


name: short stature-heart defect-craniofacial anomalies syndrome


opportunistic systemic mycosis

description: A mycosis that arises from infection in an immunologically compromised host and is systemic.


Coffin-Siris syndrome 5

description: Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCE1 gene.


benign neoplasm of nasal cavity

description: A benign neoplasm that involves the nasal cavity.


pseudotyphus of California

description: Pseudotyphus of California is a rare, flea-borne Rickettsial disease caused by a Rickettsia felis infection. Patients can be asymptomatic or can present with unspecific symptoms (such as fever, headache, generalized maculopapular rash, myalgia, arthralgia and, occasionally, eschar. lymphadenopathy, nausea, vomiting, loss of appetite and abdominal pain. Rarely, serious manifestations may occur and include neurological dysfunction (photophobia, hearing loss, and signs of meningitis) and pulmonary compromise.


urolithiasis, domestic ferret

description: Urolithiasis that occurs in domestic ferret.


name: autosomal recessive nonsyndromic hearing loss 46

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 18p11.32-p11.31.


name: DYRK1A-related intellectual disability syndrome

description: An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13.


hyper-IgM syndrome type 5

description: Any hyper-IgM syndrome in which the cause of the disease is a mutation in the UNG gene.


moderately severe hemophilia B

description: Moderately severe hemophilia B is a form of hemophilia B characterized by factor IX deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.


name: obesity due to leptin receptor gene deficiency

description: Deficiency or dysfunction of the leptin receptor associated with loss-of-function mutation(s) in the LEPR gene.


chromosome 6pter-p24 deletion syndrome

description: Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.


PANDAS

description: PANDAS is an acronym for Pediatric Autoimmune Neuropsychiatric Disorders Associated with a group A beta-hemolytic Streptococcal infection and applied to a subgroup of children with obsessive-compulsive disorder (OCD) and/or tic disorders.


immunodeficiency 102

description: An X-linked recessive immunologic disorder characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias. Affected individuals have bacterial, viral, and fungal infections, as well as hemolytic anemia, thrombocytopenia, lymphopenia, and decreased NK cells. Laboratory studies show defective T-cell proliferation and function, likely due to signaling abnormalities. The disorder may also manifest as a hyperinflammatory state with immune dysregulation.


name: tumoral calcinosis, hyperphosphatemic, familial, 3


immunodeficiency 88

description: An autosomal recessive immune disorder characterized specifically by the development of disseminated mycobacterial disease following vaccination with BCG. The single patient described did not develop other clinical infectious diseases, although serology documented exposure to various viruses and bacteria. Immunologic workup shows defective development of certain innate immunologic cells and decreased production of gamma-interferon (IFNG). Additional manifestations include persistent reactive airway disease associated with increased production of Th2 cytokines.


non-verbal learning disability

description: A neurodevelopmental disorder characterized by core deficits in visual-spatial processing and a significant discrepancy between verbal and nonverbal intelligence (where verbal intelligence is higher).


spondylocostal dysostosis

description: Spondylocostal dysplasia is a rare genetic disorder characterized by defects of the bones of the spine (vertebrae) and abnormalities of the ribs. Ribs can be fused or missing in chaotic patterns. These malformations are present at birth (congenital).


name: intellectual developmental disorder, X-linked 108


name: premalignant hematological system disease

description: A hematologic disorder which does not display the morphologic and/or clinical characteristics of an overt malignancy. Representative examples include atypical lymphoproliferative disorders and myelodysplastic syndromes.


name: Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type


name: light and heavy chain deposition disease

description: A subtype of monoclonal immunoglobulin deposition disease in which heavy and light chains deposition results in non-amyloid tissue deposits which may cause organ dysfunction.


name: CACNA1A-related complex neurodevelopmental disorder

description: A progressive complex neurodevelopmental condition caused by variants in the CACNA1A gene. Phenotypic onset (usually) occurs around age 1 and most often includes intellectual disability but can also include epileptic encephalopathy, benign paroxysmal torticollis of infancy and paroxysmal tonic upgaze psychomotor delay, learning difficulties, absence epilepsy, episodic ataxia, and hemiplegic migraines.


name: agammaglobulinemia 8, autosomal dominant

description: Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the TCF3 gene.


X-linked endothelial corneal dystrophy

description: X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients.


urolithiasis, dog

description: Urolithiasis that occurs in dog.


eye lymphoma

description: A lymphoma that involves the eye.


listeriosis

description: A bacterial infection caused by Listeria monocytogenes. It occurs in newborns, elderly, and immunocompromised patients. The bacteria are transmitted through ingestion of contaminated food. Clinical manifestations include fever, muscle pain, respiratory distress, nausea, diarrhea, neck stiffness, irritability, seizures, and lethargy.


Prader-Willi-like syndrome

description: Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) occurring in the absence of 15q11-q13 genomic abnormalities.


entropion, horse

description: Entropion that occurs in horse.


Alzheimer disease 14

description: An Alzheimer's disease that is characterized by an associated with variation in the region 1q25.


cleft palate, non-human animal

description: Cleft palate that occurs in non-human animals.


patterned macular dystrophy

description: A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped.


name: developmental delay, impaired speech, and behavioral abnormalities, with or without seizures


otopalatodigital syndrome

description: A form of frontootopalatodigital syndrome, characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders.


retinitis pigmentosa 24

description: A retinitis pigmentosa that has material basis in variation in the chromosome region Xq26-q27.


situs inversus, horse

description: Situs inversus that occurs in horse.


amyotrophic lateral sclerosis type 1

description: An inherited form of amyotrophic lateral sclerosis, usually inherited in an autosomal dominant pattern, caused by mutation(s) in the SOD1 gene, encoding superoxide dismutase.


Jalili syndrome

description: Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI) and cone-rod retinal dystrophy (CORD).


name: spastic paraplegia 87, autosomal recessive


name: panniculitis and localized lipodystrophy


longitudinal vaginal septum

description: A rare vaginal malformation characterized by the presence of a complete or incomplete septum dividing the vagina into two parallel cavities, resulting from failure of reabsorption of the midline uterine septum between the two fused Müllerian ducts during embryogenesis. Patients are often asymptomatic, but may present with menorrhagia, dysmenorrhea, dyspareunia, infertility, or spontaneous abortion. The condition may occur as an isolated malformation or in association with other Müllerian duct anomalies (such as septate uterus or uterus didelphys) or renal abnormalities.


name: hypertrophic osteoarthropathy, primary, autosomal recessive, 2

description: Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the SLCO2A1 gene.


name: paternal 20q13.2q13.3 microdeletion syndrome

description: Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism.


orbital cellulitis

description: Inflammation of the eye tissues posterior to the orbital septum, and generally secondary to an infection spread from adjacent sinuses. Signs and symptoms of the affected eye include sudden loss of vision, erythema, edema, decreased eye movement, and pain. Treatment is conducted via intravenous antibiotics, observation, and surgical intervention when necessary.


name: isolated focal cortical dysplasia type IIa


isolated arhinencephaly

description: Isolated arhinencephaly is a rare non-syndromic central nervous system malformation defined by the agenesis of the olfactory bulbs and tracts and characterized by complete congenital anosmia.


dysraphism with stalk

description: A rare group of closed spinal dysraphisms characterized by the presence of a stalk connecting the skin to the underlying spinal cord. The stalk contains variable combinations of non-functional neural tissue, fibrous mesenchymal tissue, and dermal/epidermal elements.


nephrotic syndrome, type 10

description: Any nephrotic syndrome in which the cause of the disease is a mutation in the EMP2 gene.


ichthyosis, annular epidermolytic 1

description: Any annular epidermolytic ichthiosis in which the cause of the disease is a variation in the KRT10 gene.


infantile-onset epilepsy

description: Epilepsy starting in the first 12 months of life, including self-limiting and refractory seizures, and epilepsies with and without developmental disorders.


premenopausal osteoporosis

description: Osteoporosis occurring in premenopausal women with existing fragility fractures, diseases or treatments known to cause bone loss or fractures.


salmonella discitis

description: Discitis caused by infection with Salmonella.


Cryoglobulinemic vasculitis

description: Mixed cryoglobulinemia (MC) is a rare multisystem disease characterized by the presence of circulating cryoprecipitable immune complexes in the serum, manifested clinically by a classical triad of purpura, weakness and arthralgia.


fetal trimethadione syndrome

description: Fetal trimethadione syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to trimethadione and that is characterized by pre- and post-natal growth retardation, intellectual deficit, developmental and speech delay, craniofacial anomalies (with some similarities to those seen in fetal valproate syndrome), and less commonly, cleft palate, malformations of the heart, urogenital system and limbs. Trimethadione is an antiepileptic drug that has been removed from the market in Europe and is no longer used much in other countries due to teratogenicity and potential side effects.


name: glycerol kinase deficiency, juvenile form

description: Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness.


chronic laryngitis

description: Persistent laryngitis usually caused by smoking, heavy alcohol consumption, voice abuse, or gastroesophageal reflux disease. It results in hoarseness and other voice changes.


name: Leber-like hereditary optic neuropathy, autosomal recessive 2


autoimmune hemolytic anemia, cold type

description: Cold autoimmune hemolytic anemia comprises two types of autoimmune hemolytic anemia (AIHA) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30B0C): cold agglutinin disease (CAD), which is the more common, and paroxysmal cold hemoglobinuria (PCH).


T cell and NK cell immunodeficiency

description: A primary immunodeficiency disease that involves multiple components of the immune system, including both T cell and NK cell immunodeficiency.


epilepsy, cattle

description: Epilepsy that occurs in cattle.


name: contractures, pterygia, and variable skeletal fusions syndrome 1B


distomatosis

description: Distomatosis is a group of parasitoses caused by flat worms that live in contact with epitheliums. Clinical classification depends on the organ infected by the adult parasite: liver, lungs, or intestines.


cystic hygroma, pig

description: Cystic hygroma that occurs in pig.


Charcot-Marie-Tooth disease type 1F

description: A form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the NEFL gene (8p21.2)..


vascular occlusion disorder

description: A disorder characterized by occlusion of blood vessels. It differs from thrombosis in that it can be used to describe any form of blockage, not just one formed by a clot.


urolithiasis, American mink

description: Urolithiasis that occurs in American mink.


idiopathic localized lipodystrophy

description: Idiopathic localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by asymptomatic, well-demarcated, depressed, lipoatrophic lesions of variable size, with normal overlying skin without antecedent inflammation or a known identifiable cause (autoimmune disease, drug injection, injury, etc).


dermatosis papulosa nigra

description: A benign skin condition commonly seen in dark-skinned individuals that is characterized by multiple small hyperpigmented papular lesions resembling seborrheic keratosis on the face and upper body.


cutaneous fibrous histiocytoma

description: A benign, intermediate, or malignant mesenchymal neoplasm composed of fibrohistiocytic cells, spindle fibroblastic cells, and histiocytes, in a storiform pattern.


hydranencephaly, non-human animal

description: Hydranencephaly that occurs in non-human animals.


name: hypopigmentation, organomegaly, and delayed myelination and development


autoimmune bullous skin disease

description: An autoimmune disease characterized by blisters on the skin.


polydactyly, Arabian camel

description: Polydactyly that occurs in Arabian camel.


subglottis neoplasm

description: A benign or malignant neoplasm that affects the subglottic area of the larynx.


hallucinogen dependence

description: A drug dependence for a hallucinogenic substance.


pulp degeneration

description: Deterioration of the normal pulp tissue.


name: demyelinating hereditary motor and sensory neuropathy


name: severe combined immunodeficiency due to LAT deficiency


name: primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome


Acanthamoeba keratitis

description: Keratitis due to infection by acanthamoeba; it is usually associated with soft contact lens wear, particularly overnight wear.


PERCHING syndrome

description: Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the KLHL7 gene.


description: Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis.


name: spondyloepimetaphyseal dysplasia, PAPSS2 type

description: A spondyloepimetaphyseal dysplasia characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.


adult cerebellar neoplasm

description: A cerebellar neoplasm that occurs in an adult.


conus spinal cord lipoma

description: A rare lipomatous, dysraphic malformation characterized by lipoma located wholly or partially at the conus.


renal hypoplasia, bilateral, dog

description: Renal hypoplasia, bilateral that occurs in dog.


name: spinocerebellar ataxia, autosomal recessive 32


name: familial median cleft of the upper and lower lips

description: Familial median cleft of the upper and lower lips is a rare and isolated orofacial defect characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family.


name: polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis


name: choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome

description: Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome.


name: neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly


name: mitochondrial complex 1 deficiency, nuclear type 30


Cornelia de Lange syndrome 1

description: Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the NIPBL gene.


deafness dystonia syndrome

description: An X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards.


pontocerebellar hypoplasia type 3

description: Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3.


LAMA5-related multisystemic syndrome

description: A rare genetic systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome, and hypothyroidism. The phenotype has been reported to be more severe in women than in men. This is an n-of-1 use case where only one patient or family has been described with this disorder.


name: ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis


dementia pugilistica

description: Conditions characterized by persistent brain damage or dysfunction as sequelae of cranial trauma. This disorder may result from diffuse axonal injury; intracranial hemorrhages; brain edema; and other conditions. Clinical features may include dementia; focal neurologic deficits; persistent vegetative state; akinetic mutism; or coma.


factor XI deficiency

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


name: cancer, familial, with in vitro Radioresistance


description: Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/wooly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although wooly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent.


panic disorder with agoraphobia

description: A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is a component of this disorder.


ring chromosome 10

description: Ring chromosome 10 syndrome is characterized by intellectual deficit, growth retardation, and various dysmorphic features. Less than 20 cases have been described. The main features are low birth weight, microcephaly, stubby nose with a prominent nasal bridge, hypertelorism, strabismus, wide-set nipples, single transverse palmar creases, and clinodactyly. Boys have undescended testes and hypoplastic scrotum. Congenital heart disease, hydronephrosis or renal hypoplasia was present in some of the cases.


microcephaly and chorioretinopathy 3

description: Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the TUBGCP4 gene.


name: intellectual disability, autosomal dominant 43

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the HIVEP2 gene.


primary oculocerebral lymphoma

description: Primary oculocerebral lymphoma is a rare, primary, organ-specific, extranodal non-Hodgkin's lymphoma (typically diffuse large B-cell lymphoma), simultaneously affecting the intraocular compartments (retina, vitreous, optic nerve, uvea and others) and the central nervous system (commonly the cerebellum, spinal cord or pia mater). The presenting symptoms vary depending on the localization of the tumor and may include vitreous floaters or blurred vision, raised intracranial pressure (headache, vomiting, papilledema) and/or focal neurological deficits.


iron metabolism disease

description: Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization.


Strongylida infectious disease

description: Infections with nematodes of the order strongylida.


intermittent explosive disorder

description: A disorder characterized by recurrent episodes of serious assaultive acts or destruction of property due to a failure to resist aggressive impulses; the degree of aggression during these episodes is grossly out of proportion to any psychosocial provocation. The aggressive episodes are not etiologically linked to another mental disorder, a general medical condition, or substance use.


name: X-linked syndromic intellectual disability

description: A syndromic intellectual disability with an X-linked mode of inheritance.


complement component 7 deficiency

description: Any classic complement early component deficiency in which the cause of the disease is a mutation in the C7 gene.


AH amyloidosis

description: A rare type of amyloidosis characterized by the monoclonal deposition of immunoglobulin heavy chain fragments in organs and tissues. It is associated with plasma cell or B-cell lymphoproliferative disorders.


nutritional disorder, non-human animal

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


name: microcephaly 5, primary, autosomal recessive

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


dopa-responsive dystonia

description: Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency.


name: pyruvate dehydrogenase E1-alpha deficiency

description: Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction.


childhood acute myeloid leukemia

description: Acute myeloid leukemia occurring in childhood.


name: viral infectious disease, non-human animal

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


scleredema adultorum

description: A usually benign and self-limited skin disorder of unknown etiology, characterized by induration of the skin. It may be associated with infection, diabetes mellitus, and hematologic malignancies. Morphologically, there is deposition of mucin in the dermis.


name: autoinflammatory disease, systemic, with vasculitis


Edinburgh malformation syndrome

description: Edinburgh malformation syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by consistently abnormal facial appearance, true or apparent hydrocephalus, motor and cognitive developmental delay, failure to thrive (feeding difficulties, vomiting, chest infections) and death within a few months of birth. Carp mouth, hairiness of the forehead, neonatal hyperbilirubinemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991.


osteogenesis imperfecta

description: Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity.


Kerion celsi

description: A rare inflammatory and suppurating type of tinea capitis, a skin infection caused by Trichophyton or Microsporum fungi, that predominantly affects the scalp and that is characterized by the development of painful crusty lesions covered with follicular pustules and surrounded by erythematous alopecic areas, that can later evolve into abscesses and leave permanent cicatricial alopecia. Lesions can be associated with regional lymphadenopathy.


name: combined immunodeficiency due to POLE2 deficiency

description: Any combined immunodeficiency due to a deficiency in the POLE2 gene.


name: facial clefting corpus callosum agenesis


Oguchi disease-1

description: Any Oguchi disease in which the cause of the disease is a mutation in the SAG gene.


Helicobacter pylori infectious disease

description: Infections with organisms of the genus HELICOBACTER, particularly, in humans, HELICOBACTER PYLORI. The clinical manifestations are focused in the stomach, usually the gastric mucosa and antrum, and the upper duodenum. This infection plays a major role in the pathogenesis of type B gastritis and peptic ulcer disease.


Beemer-Ertbruggen syndrome

description: Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984.


name: primary focal segmental glomerulosclerosis

description: A form of focal segmental glomerulosclerosis without identifiable etiology. Primary (idiopathic) FSGS has been associated with the presence of circulating permeability factors/cytokines, which cause foot process effacement and proteinuria.


atherosclerosis, non-human animal

description: Atherosclerosis that occurs in non-human animals.


name: intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures


lead poisoning

description: 5 ug/dL) is reported to lead to irreversible effects such as loss of cognition, shortening of attention span, alteration of behavior, dyslexia, attention deficit disorder, hypertension, renal impairment, immunotoxicity and toxicity to the reproductive organs.


paraquat poisoning

description: Paraquat poisoning is a rare intoxication with paraquat (a non-selective bipyridilium herbicide that has been banned in Europe), usually occurring through ingestion of the poison, and that presents with caustic injury of the oral cavity and pharynx, as well as nausea, vomiting, epigastric pain, lethargy, loss of consciousness and fever. Patients may develop potentially life-threatening complications such as hepatic dysfunction, acute tubular necrosis and renal insufficiency, and respiratory failure (due to pulmonary fibrosis) due to its inherent toxicity and lack of effective treatment. Intoxication via inhalation, injection and dermal or mucus contact have also been reported.


name: combined oxidative phosphorylation defect type 21

description: Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver.


familial periodic paralysis

description: A group of genetic neurological disorders caused by mutations in genes involved in the sodium and calcium channels in nerve cells. It is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally.


polydactyly, chicken

description: Polydactyly that occurs in chicken.


canine oral melanoma

description: A melanoma that affects the lip and/or oral cavity of a dog.


name: mitochondrial complex 4 deficiency, nuclear type 12


brachydactyly type E

description: Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.


name: progressive deafness with stapes fixation

description: Stapes fixation (stapedovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis, but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease).


name: intellectual disability, autosomal dominant 29

description: Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the SETBP1 gene.


name: familial male-limited precocious puberty

description: Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height.


gonococcal urethritis

description: Inflammation of the urethra secondary to infection with Neisseria gonorrhoeae; this infection is spread through sexual contact.


2p13.2 microdeletion syndrome

description: 2p13.2 microdeletion syndrome is a rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy.


panophthalmitis

description: Acute suppurative inflammation of the inner eye with necrosis of the sclera (and sometimes the cornea) and extension of the inflammation into the orbit. Pain may be severe and the globe may rupture. In endophthalmitis the globe does not rupture.


Baller-Gerold syndrome

description: Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).


baker Vinters syndrome

description: A very rare syndrome characterized by craniosynostosis (premature fusion of skull bones), hydrocephalus (an abnormal increase of cerebrospinal fluid in the ventricles of the brain) and abnormal development of the channel or duct in the middle of the brain that connects the third and fourth ventricles. This is an n-of-1 use case where only one patient or family has been described with this disorder.


name: gaze palsy, familial horizontal, with progressive scoliosis 1


monieziasis

description: Infection of ruminants with tapeworms of the genus Moniezia.


acute myeloid leukemia, Monosomy 7

description: Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 7. (A chromosomal abnormality consisting of the absence of one of the copies of chromosome 7 in somatic cells.)


lumpy skin disease

description: A poxvirus infection of cattle characterized by the appearance of nodules on all parts of the skin.


hypotrichosis 13

description: Any hypotrichosis in which the cause of the disease is a mutation in the KRT71 gene.


name: intellectual developmental disorder with or without epilepsy or cerebellar ataxia


temtamy preaxial brachydactyly syndrome

description: An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has material basis in homozygous mutation in the CHSY1 gene.


hyperamylasemia

description: Abnormally high level of amylase in the blood.


benign neoplasm of soft palate

description: A benign neoplasm that involves the soft palate.


name: neuropathy, hereditary motor and sensory, type 6B

description: Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the SLC25A46 gene.


hypercalcemia, infantile, 2

description: Any hypercalcemia, infantile in which the cause of the disease is a mutation in the SLC34A1 gene.


atrophoderma of Pierini and Pasini

description: Atrophoderma of Pierini and Pasini is thought to possibly represent a late stage of morphea a type of localized scleroderma. Signs and symptoms ofatrophoderma of Pierini and Pasini include multiple oval, darkened (hyperpigmented) plaques in which tissue under the skin breaks downso that there is a depression (dent) within the skin. Some findings suggest that atrophoderma of Pierini and Pasini may be associated with B burgdorferi, a bacteria that causesLyme disease, in some cases.


name: autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures

description: An autosomal dominant type of spinal muscular atrophy caused by mutation(s) in the DYNC1H1 gene, encoding cytoplasmic dynein 1 heavy chain 1.


lymphocele

description: A cystic lesion containing lymph. It usually results from injury, gynecologic surgery, or urologic surgery.


developmental disorder of mental health

description: A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development.


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

description: Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the SPG11 gene.


isolated transitional filum lipoma

description: A rare dysraphic abnormality characterized by the infiltration of fatty tissue localized in the filum terminale, with abnormal conus shape. The spinal cord is typically attenuated and the limit between its end and the fatty filum is hard to distinguish. There are no additional spinal cord malformation, but it can be associated with vertebral abnormalities, anorectal malformation or other syndromic condition. It is named transitional for its intermediate image between an isolated filum lipoma and a terminal conus region lipoma.


name: acute myeloid leukemia with t(9;11)(p22;q23)


name: congenital generalized lipodystrophy type 3

description: Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAV1 gene.


columnar cell hyperplasia of the breast

description: A columnar cell lesion characterized by the presence of enlarged terminal ductal lobular units with dilated acini. The acini are lined by more than two layers of columnar epithelial cells. Prominent apical cytoplasmic snouts are present. Secretions are often present in the lumina of the dilated acini.


annular epidermolytic ichthyosis

description: Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities.


vitreous disorder

description: A disease involving the vitreous humor.


intellectual disability, X-linked 63

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ACSL4 gene.


name: intellectual developmental disorder with autistic features and language delay, with or without seizures


orofacial cleft 10

description: Any orofacial cleft in which the cause of the disease is a mutation in the SUMO1 gene.


Wissler syndrome

description: A rheumatic syndrome of possibly allergic origin, usually affecting children and adolescents, and characterized by high fever, exanthema, arthralgia, leukocytosis, and increased sedimentation rate.


prekallikrein deficiency, horse

description: Prekallikrein deficiency that occurs in horse.


inborn serine deficiency

description: An inherited metabolic disease that is has its basis in the disruption of L-serine biosynthetic process.


name: neuronopathy, distal hereditary motor, type 2C

description: Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB3 gene.


uterine cervix neoplasm

description: A neoplasm (disease) that involves the uterine cervix.


name: autosomal recessive nonsyndromic hearing loss 63

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


name: intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly


Waardenburg syndrome type 3

description: Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin.


swine erysipelas

description: An acute and chronic contagious disease of young pigs caused by Erysipelothrix insidiosa.


olfactory nerve disorder

description: A disease involving the olfactory nerve.


auditory system benign neoplasm

description: A sensory system benign neoplasm that is located in the auditory system.


Actinomycetales infectious disease

description: Infections with bacteria of the order actinomycetales.


name: autosomal recessive limb-girdle muscular dystrophy type R18

description: A form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.


name: corneal dystrophy pigmentary anomaly malabsorption


name: neuronopathy, distal hereditary motor, type 7B

description: Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the DCTN1 gene.


hereditary skeletal muscle disorder

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


orbit sarcoma

description: A malignant soft tissue neoplasm that arises from the structures of the orbit. The majority of the cases are rhabdomyosarcomas.


subaortic course of innominate vein

description: Subaortic course of innominate vein is a rare congential anomaly of the great veins characterized by an anomalous course of the left brachiocephalic vein, passing from left to right below the aortic arch and entering the superior vena cava below the orifice of the azygos vein. Patients are frequently asymptomatic and diagnosed incidentally on imaging studies. Other cardiac malformations may be associated.


name: intellectual developmental disorder, autosomal recessive 71


name: holoprosencephaly 12 with or without pancreatic agenesis


infantile apnea

description: Infantile apnea is a cessation of respiratory air flow that may affect newborns or older children because of neurological impairment of the respiratory rhythm or obstruction of air flow through the air passages. The symptoms include cyanosis, pallor or bradycardia and snoring in case of obstructive apnea.


description: Methotrexate-associated lymphoproliferative disorders are rare immunodeficiency-associated lymphoproliferative diseases characterized by lymphoid proliferation or lymphomas (large B-cell lymphoma, T-cell lymphoma, Hodgkin lymphoma, reactive lymphadenitis and a polymorphic post-transplant lymphoproliferative disorder) that develop in patients with different autoimmune diseases treated with methotrexate. Swelling is the predominant manifestation of the disease and regression after methotrexate withdrawal is observed in a significant proportion of patients.


name: mitochondrial complex IV deficiency, nuclear-type


myotonia fluctuans

description: Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion.


name: childhood-onset benign chorea with striatal involvement


name: cerebral malformation, seizures, hypertrichosis, and overlapping fingers


name: spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability

description: A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. This is an n-of-1 use case where only one patient or family has been described with this disorder.


malignant histiocytosis, pig

description: Malignant histiocytosis that occurs in pig.


name: anterior cutaneous nerve entrapment syndrome

description: Anterior cutaneous nerve entrapment syndrome (ACNES) is a chronic neuropathic pain syndrome of the abdominal wall caused by entrapment of anterior cutaneous branches of 7 to 12th intercostal nerves along the lateral border of the anterior rectus abdominis fascia causing severe pain and tenderness of the involved dermatome.


Marinesco-Sjogren syndrome

description: Marinesco-Sjogren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.


platelet-type bleeding disorder 19

description: Any isolated hereditary giant platelet disorder in which the cause of the disease is a mutation in the PRKACG gene.


renal dysplasia, domestic cat

description: Renal dysplasia that occurs in domestic cat.


mansonelliasis

description: A parasitic infection caused by the nematode Mansonella. Signs and symptoms include pruritus, headache, fever, arthralgias, and eosinophilia.


anterior pituitary gland disorder

description: A disease that involves the adenohypophysis.


hereditary spastic paraplegia 13

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the HSPD1 gene.


heterotaxy, visceral, 8, autosomal

description: Any visceral heterotaxy in which the cause of the disease is a mutation in the PKD1L1 gene.


canine oral squamous cell carcinoma

description: Oral squamous cell carcinoma that occurs in a dog.


Joubert syndrome 10

description: Any Joubert syndrome in which the cause of the disease is a mutation in the OFD1 gene.


name: developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy


vagus nerve disorder

description: A disease involving the vagus nerve.


name: neurodevelopmental disorder with ataxia, hypotonia, and microcephaly


name: focal alopecia congenital megalencephaly


canine thyroid adenocarcinoma

description: Adeonocarcinoma of the thyroid gland occurring in a dog.


Blount disease

description: Blount disease is characterized by disturbed growth of the inner portion of the upper tibial extremity, progressively leading to bowlegged deformity with bone angulation just below the knee (tibia varus). In 60% of cases, the condition affects both legs.


janus kinase-3 deficiency

description: Deficiency of janus kinase-3 causing the near absence of T lymphocytes and Natural killer cells; and normal or elevated B lymphocytes due to an autosomal recessive variant of severe combined immunodeficiency.


name: symptomatic form of fragile X syndrome in female carrier


acquired angioedema type 2

description: Acquired angioedema type 2 (AAE2) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.


name: familial adenomatous polyposis due to 5q22.2 microdeletion


name: disorder of thiamine metabolism and transport


hereditary hyperbilirubinemia

description: An inherited disorder affecting the metabolism of bilirubin. It results in increased levels of bilirubin in the blood. Representative examples of this condition include Gilbert syndrome and Crigler-Najjar syndrome.


name: congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency

description: Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias.


name: hypogonadotropic hypogonadism 6 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF8 gene.


bird headed-dwarfism, Montreal type

description: Microcephalic primordial dwarfism, Montreal type is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970.


aorta angiosarcoma

description: A malignant vascular neoplasm arising from the aorta.


basaloid follicular hamartoma

description: A type of pilosebaceous hamartoma characterized by basal cell epitheliomata, epidermoid cysts and comedones, and epidermal atrophy.


name: hydroxyacyl glutathione hydrolase deficiency


name: deafness hypospadias metacarpal and metatarsal syndrome


name: cleft lip palate intellectual disability corneal opacity


kidney benign neoplasm

description: A non-metastasizing neoplasm that arises from the kidney. Representative examples include cystic nephroma, metanephric adenoma, oncocytoma, and urothelial papilloma of the renal pelvis.


name: Hodgkin's lymphoma, lymphocytic depletion

description: A diffuse subtype of classical Hodgkin lymphoma which is rich in Hodgkin and Reed-Sternberg cells and/or depleted in non-neoplastic lymphocytes. (WHO, 2008)


name: patterned dystrophy of the retinal pigment epithelium


name: intellectual disability, autosomal recessive 65


angiomatous meningioma

description: A WHO grade I meningioma characterized by the presence of small and medium sized vessels that predominate over the meningioma cells.


premature ovarian failure 7

description: Any primary ovarian failure in which the cause of the disease is a mutation in the NR5A1 gene.


paratuberculosis

description: A chronic gastroenteritis in ruminants caused by mycobacterium avium subspecies paratuberculosis.


name: corpus callosum agenesis-macrocephaly-hypertelorism syndrome


description: Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia.


cutaneous mycosis

description: A mycosis that involves the integument and its appendages, including hair and nails. Infection may involve the stratum corneum or deeper layers of the epidermis.


name: neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia


name: childhood acute megakaryoblastic leukemia

description: An acute megakaryocytic leukemia that is characterized by fusion oncogenes involving transcriptional regulators in childhood.


pediatric liposarcoma

description: A rare malignant neoplasm arising from adipocytes, that occurs in children. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma.


ulna metaphyseal dysplasia syndrome

description: Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga.


radiation myelitis

description: A disease characterized by white matter damage to the spinal cord developed after a certain period of application of ionizing radiation.


variant Creutzfeldt-Jakob disease

description: A form of Creutzfeldt-Jakob disease that is most commonly contracted after consuming meat from an animal suffering from bovine spongiform encephalopathy.


echinococcosis

description: A parasitic infection caused by tapeworm larvae of Echinococcus. It affects livestock and humans. It is characterized by the formation of hydatid cysts mainly in the liver, lungs, spleen, and kidneys. Rupture of the cysts may lead to shock.


alkaptonuria, crab-eating macaque

description: Alkaptonuria that occurs in crab-eating macaque.


name: facioscapulohumeral muscular dystrophy 2

description: Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the SMCHD1 gene.


name: autosomal recessive spastic paraplegia type 68


Leber congenital amaurosis 16

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the KCNJ13 gene.


genito-palato-cardiac syndrome

description: Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.


name: isolated growth hormone deficiency, type 5


Treacher Collins syndrome 2

description: Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1D gene.


keratopathy

description: Any disorder of the cornea.


hemophilia B, domestic cat

description: Hemophilia B that occurs in domestic cat.


name: autosomal recessive palmoplantar keratoderma and congenital alopecia

description: Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum.


marasmus

description: The lack of sufficient energy or protein to meet the body's metabolic demands, as a result of either an inadequate dietary intake of protein, intake of poor quality dietary protein, increased demands due to disease, or increased nutrient losses.


name: X-linked intellectual disability, Sutherland-Haan type