name: cleft lip with or without cleft palate, non-human animal

description: Cleft lip with or without cleft palate that occurs in non-human animals.


name: mild phosphoribosylpyrophosphate synthetase superactivity

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

description: Mild phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the mild and late-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, leading to urolithiasis and gout. This form is not associated with any neuropathy or central nervous system (CNS) disorders.


corneal dystrophy, domestic cat

description: Corneal dystrophy that occurs in domestic cat.


subjective cognitive decline

description: A cognitive disorder that is characterized by the presence of significant and persistent cognitive complaints.


name: pseudoxanthoma elasticum (inherited or acquired)

description: An inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract.


polyp of ethmoidal sinus

description: A polyp that involves the ethmoid sinus.


dystonia 21

description: Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia.


name: palmoplantar keratoderma, nonepidermolytic, focal or diffuse


Crimean-Congo hemorrhagic fever

description: Crimean-Congo hemorrhagic fever (CCHF) is a tick-borne zoonotic disease caused by CCHF virus and characterized by initial fever, headache, and malaise followed by gastrointestinal symptoms and, in severe cases, bleeding, shock, and multi-organ system failure.


name: retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome

description: A rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches.


autosomal dominant brachyolmia

description: Autosomal dominant brachyolmia is a relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood.


choanal atresia, non-human animal

description: Choanal atresia that occurs in non-human animals.


name: short stature-valvular heart disease-characteristic facies syndrome

description: Short stature-valvular heart disease-characteristic facies syndrome is characterized by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait.


hypophosphatasia, sheep

description: Hypophosphatasia that occurs in sheep.


name: low-grade neuroendocrine tumor of the corpus uteri

description: Low-grade neuroendocrine tumor of the corpus uteri is an extremely rare uterine cancer typically characterized by a well demarcated, solid, frequently pedunculated tumor originating from neuroendocrine cells scattered within the endometrium, often associated with ectopic hormone production. Patients usually present with vaginal bleeding or discharge and a pelvic mass with a polypoid tumor sometimes protruding through the cervical canal. Symptoms related to ectopic hormone production (flushing, sweating, diarrhea, bronchospasm) may also develop.


pycnodysostosis

description: Pycnodysostosis is a genetic lysosomal disease characterized by short stature, increased density of the bones (osteosclerosis/osteopetrosis), and brittle bones. Other features may include underdevelopment of the tips of the fingers with absent or small nails, an abnormal collarbone (clavicle), distinctive facial features including a large head with a small face and chin, underdeveloped facial bones, a high forehead, and dental abnormalities.Pycnodysostosis is an autosomal recessive condition caused by mutations in the gene that codes the enzyme cathepsin K (CTSK) on chromosome 1q21. The diagnosis of pycnodysostosis is based on physical features and X-ray findings. Molecular genetic testing is available. Treatment should address the symptoms found in each patient and may include orthopedic monitoring, treatment of fractures, appropriate dental care, and craniofacial surgery.


name: glaucoma secondary to spherophakia/ectopia lentis and megalocornea

description: Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate.


hypotrichosis 1

description: Any hypotrichosis in which the cause of the disease is a mutation in the APCDD1 gene.


lower urinary tract calculus

description: A urolithiasis that involves the lower urinary tract.


gonadal disorder

description: A non-neoplastic or neoplastic disorder that affects the testis or the ovary.


name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8

description: Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMGNT2 gene.


name: metaphyseal undermodeling, spondylar dysplasia, and overgrowth


localized lichen myxedematosus

description: Localized lichen myxedematosus is a group of skin diseases characterized by the development of papules, nodules and/or plaques with mucin deposits and a variable degree of fibrosis in the absence of thyroid disease. The group comprises five sub-forms: nodular lichen myxedematosus, discrete papular lichen myxedematosus, papular mucinosis of infancy, acral persistent papular mucinosis and self-healing papular mucinosis.


suprasellar meningioma

description: A meningioma that affects the suprasellar region.


RDH5-related retinopathy

description: A retinopathy caused by bialleleic variants in the RDH5 gene, often involving flecks in the retina.


obesity-hypoventilation syndrome

description: Hypoventilation syndrome in very obese persons with excessive adipose tissue around the abdomen and diaphragm is characterized by diminished to absent ventilatory chemoresponsiveness; chronic hypoxia; hypercapnia; polycythemia; and long periods of sleep during day and night (hypersomnolence). It is a condition often related to obstructive sleep apnea but can occur separately.


nerve agent poisoning

description: A poisoning that is caused by exposure to a nerve agent or gas.


nephronophthisis 3

description: Any nephronophthisis in which the cause of the disease is a mutation in the NPHP3 gene.


name: inflammatory myopathy with abundant macrophages

description: Inflammatory myopathy with abundant macrophages is a rare inflammatory myopathy characterized by diffuse destructive infiltration of CD68+ macrophages into the fascia rather than muscle fibers in muscle biopsies, proximal muscle weakness and myalgia with or without scaly dermatomyositis-like or atypical non-dermatomyositis-like skin lesions, elevation of creatine kinase levels and thickening of muscle fascia in muscle MRI.


SHOX-related short stature

description: SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age, but may develop later in life or never.


patellofemoral pain syndrome

description: A syndrome characterized by retropatellar or peripatellar pain resulting from physical and biochemical changes in the patellofemoral joint. The pain is most prominent when ascending or descending stairs, squatting, or sitting with flexed knees. There is a lack of consensus on the etiology and treatment. The syndrome is often confused with (or accompanied by) chondromalacia patellae, the latter describing a pathological condition of the cartilage and not a syndrome.


polydactyly, dog

description: Polydactyly that occurs in dog.


keratoconus 1

description: Any keratoconus in which the cause of the disease is a mutation in the VSX1 gene.


peeling skin syndrome 4

description: Any peeling skin syndrome in which the cause of the disease is a mutation in the CSTA gene.


Fanconi anemia complementation group P

description: Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.


acropectoral syndrome

description: Acro-pectoral syndrome is characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations. It has been described in 22 patients from a six-generation Turkish family. It is transmitted as an autosomal dominant trait and the causative gene is located at 7q36.


name: 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial


name: intellectual disability, autosomal recessive 57

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MBOAT7 gene.


Shwartzman phenomenon

description: Hemorrhagic necrosis that was first demonstrated in rabbits with a two-step reaction, an initial local (intradermal) or general (intravenous) injection of a priming endotoxin (endotoxins) followed by a second intravenous endotoxin injection (provoking agent) 24 h later. The acute inflammation damages the small blood vessels. The following intravascular coagulation leads to capillary and venous thrombosis and necrosis. Shwartzman phenomenon can also occur in other species with a single injection of a provoking agent, and during infections or pregnancy. Its susceptibility depends on the status of immune system, coagulation, fibrinolysis, and blood flow.


name: hypogonadotropic hypogonadism 19 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the DUSP6 gene.


sarcoma, avian

description: Connective tissue tumors, affecting primarily fowl, that are usually caused by avian sarcoma viruses.


somatization disorder

description: Disorders having the presence of physical symptoms that suggest a general medical condition but that are not fully explained by a another medical condition, by the direct effects of a substance, or by another mental disorder. The symptoms must cause clinically significant distress or impairment in social, occupational, or other areas of functioning. In contrast to factitious disorders and malingering, the physical symptoms are not under voluntary control. (apa, dsm-V)


name: autosomal recessive centronuclear myopathy

description: Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.


diabetes mellitus, rabbit

description: Diabetes mellitus that occurs in rabbit.


name: intellectual disability, autosomal dominant 57


mosaic trisomy 3

description: Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities.


steroid inherited metabolic disorder

description: Errors in metabolic processing of steroids resulting from inborn genetic mutations that are inherited or acquired in utero.


name: paternal uniparental disomy of chromosome 5

description: Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.


complete trisomy 21

description: Trisomy 21 characterized by the presence of an extra chromosome 21 in all the cells of the organism.


neurofaciodigitorenal syndrome

description: Neurofaciodigitorenal syndrome is a rare, multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997.


parasympathetic nervous system disorder

description: A disease or disorder that involves the parasympathetic nervous system.


name: Huntington disease-like syndrome due to C9ORF72 expansions


name: otopalatodigital syndrome spectrum disorder

description: Otopalatodigital syndrome spectrum disorder is a primary bone dysplasia and encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group include otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.


idiopathic neonatal atrial flutter

description: Idiopathic neonatal atrial flutter (AFL) is a rare rhythm disorder, characterized by sustained tachycardia in newborns and infants with an atrial rate often at around 440 beats/minute (range 340-580). AFL may manifest as asymptomatic tachycardia, congestive heart failure or hydrops.


spina bifida occulta, non-human animal

description: Spina bifida occulta that occurs in non-human animals.


name: unspecified juvenile idiopathic arthritis

description: Unspecified juvenile idiopathic arthritis is a rare, pediatric, rheumatologic disease, a subtype of juvenile idiopathic arthritis (JIA) characterized by arthritis of an unknown cause that persists for at least 6 weeks, and does not fulfill the criteria for any of the other JIA subtypes, or fulfills criteria for more than one of the other subtypes.


kernicterus due to isoimmunization

description: Encephalopathy in infants due to high levels of unconjugated bilirubin that are a result of Rh incompatibility between the mother and the fetus.


periodontitis, Rhesus monkey

description: Periodontitis that occurs in Rhesus monkey.


name: recurrent infections associated with rare immunoglobulin isotypes deficiency

description: Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG subclass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections.


name: steroid dehydrogenase deficiency-dental anomalies syndrome

description: Steroid dehydrogenase deficiency-dental anomalies syndrome is an autosomal recessive liver disease which was associated with numerical dental aberrations in a consanguineous Arabi Saudi family. This association suggests that the same gene is involved in both defects. General hypomineralisation and enamel hypoplasia found in this family is thought to be secondary to malabsorption due to liver disease.


mammary neoplasms, animal

description: Tumors or cancer of the mammary gland in animals (mammary glands, animal).


name: sickle cell-beta-thalassemia disease syndrome

description: Sickle beta thalassemia is an inherited condition that affects hemoglobin, the protein in red blood cells that carries oxygen to different parts of the body.It is a type of sickle cell disease. Affected people have a differentchange (mutation) in each copy of their HBB gene: onethat causes red blood cells to form a 'sickle' or crescent shape and a second that is associated with beta thalassemia, a blood disorder that reduces the production of hemoglobin. Depending on the beta thalassemia mutation, people may have no normal hemoglobin (called sickle beta zero thalassemia) or a reduced amount of normal hemoglobin (called sickle beta plus thalassemia). The presence of sickle-shaped red blood cells, which often breakdown prematurely and can get stuck in blood vessels, combined with the reduction or absence of mature redblood cells leads to the many signs and symptoms of sickle beta thalassemia. Features, which may include anemia (low levels of red blood cells), repeated infections, and frequent episodes of pain, generally develop in early childhood and vary in severity depending on the amount of normal hemoglobin made. Sickle beta thalassemia is inherited in an autosomal recessive manner. Treatment is supportive and depends on the signs and symptoms present in each person.


schizophrenia 16

description: A schizophrenia that has material basis in a mutation on chromosome 7q36.3.


corneal abscess

description: An abscess of the cornea.


name: congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome

description: A rare syndromic esophageal malformation characterized by severe congenital brachyesophagus with midline diaphragmatic hernia and secondary intrathoracic stomach, and vertebral anomalies (in particular rachischisis of the cervical/thoracic spine). Additional reported manifestations include intrauterine growth restriction, short neck, intestinal malrotation, herniation of other abdominal organs, and cleft lip, among others. The condition is mostly fatal in the neonatal or early infantile period.


name: syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome


muscular dystrophy, dog

description: Muscular dystrophy that occurs in dog.


diaphanospondylodysostosis

description: Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate.


intramural coronary arterial course

description: Intramural coronary arterial course is a rare coronary artery congenital malformation disorder characterized by an atypical course of a coronary artery (usually proximal left anterior descending artery) in which, for a variable length, the artery runs intramyocardally. Depending on the artery and length of segment involved, patients may be asymptomatic or may present variable manifestations ranging from atypical angina to sudden death.


benign blood vessel neoplasm

description: A benign neoplasm arising from arteries or veins.


name: autoimmune thrombocytopenic purpura, non-human animal

description: Autoimmune thrombocytopenic purpura that occurs in non-human animals.


name: progressive demyelinating neuropathy with bilateral striatal necrosis

description: Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities.


SCARF syndrome

description: A syndrome characterized by the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive.


name: primary central nervous system vasculitis


bullous pemphigoid, pig

description: Bullous pemphigoid that occurs in pig.


name: microcephalic primordial dwarfism, Toriello type

description: Microcephalic primordial dwarfism, Toriello type is characterized by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive.


hereditary spastic paraplegia 48

description: Autosomal recessive spastic paraplegia type 48 (SPG48) is a form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and parkinsonism, as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging), has also been reported.


osteogenesis imperfecta type 11

description: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the FKBP10 gene.


name: intellectual disability, X-linked, syndromic 33

description: Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the TAF1 gene.


acute transverse myelitis

description: Acute transverse myelitis (ATM) is an inflammatory demyelinating disorder of the spinal cord that can be either idiopathic (IATM) or secondary to a known cause (SATM).


Darier disease, non-human animal

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


MORM syndrome

description: MORM syndrome is characterized by the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34.


description: Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, cafC)-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986.


name: autosomal dominant nonsyndromic hearing loss 7

description: An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has material basis in variation in the chromosome region 1q21-q23.


name: stapes ankylosis with broad thumbs and toes

description: Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.


Hall-Riggs syndrome

description: Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit.


polyp

description: A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations.


frontometaphyseal dysplasia

description: Frontometaphyseal dysplasia (FMD) belongs to the otopalatodigital syndrome spectrum disorder and is characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss.


name: craniometaphyseal dysplasia, autosomal recessive

description: Autosomal recessive form of craniometaphyseal dysplasia.


craniometaphyseal dysplasia

description: Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones.


name: dyskeratosis congenita, autosomal recessive 7


horse lymphoma

description: Lymphoma that occurs in a horse.


adult medulloblastoma

description: A medulloblastoma arising from the brain, occurring in adults.


bronchus cancer

description: A malignant neoplasm involving the bronchus


Robin sequence-oligodactyly syndrome

description: Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986.


name: familial juvenile hyperuricemic nephropathy


name: punctate acrokeratoderma freckle-like pigmentation


name: myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive


hypokalemic periodic paralysis

description: Hypokalemic periodic paralysis (hypoPP) is characterized by episodes of muscle paralysis lasting from a few to 24-48 hours and associated with a fall in blood potassium levels.


chromosomal disorder

description: Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)


name: MELAS syndrome caused by mutation in MTND5

description: Any MELAS syndromein which the cause of the disease is a mutation in the MTND5 gene.


self-limited neonatal seizures

description: A neonatal/infantile epilepsy syndrome where seizures start in the neonate between day 4 and 7 of life and are often unilateral clonic events that recur and may alternate sides from seizure to seizure. Seizures can be repetitive over hours to days. Seizures remit by 4-6 months of age. A proportion of those affected may have seizures in later life. The child is expected to have normal developmental progress. This is distinguished from familial neonatal epilepsy on the basis of family history. These entities may have similar genetic etiologies, with de novo mutations responsible for the lack of family history in self-limited neonatal seizures.


description: This syndrome is characterized by Kniest dysplasia, spine abnormalities and severe dwarfism. Glaucoma has also been reported. The syndrome has been described in two unrelated children.


name: Leber congenital amaurosis, non-human animal

description: Leber congenital amaurosis that occurs in non-human animals.


chronic progressive multiple sclerosis

description: A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914)


name: autosomal recessive agammaglobulinemia 1


beta-thalassemia HBB/LCRB

description: Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype.


acquired ataxia

description: A type of ataxia that is acquired during the lifetime of the individual.


name: FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome


name: cataract - congenital heart disease - neural tube defect syndrome

description: Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). hypotonia, growth and developmental delay, seizures, and joint limitation are also reported.


name: spastic paraplegia 72b, autosomal recessive


exudative vitreoretinopathy 2, X-linked

description: Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the NDP gene.


thrombocytopenic purpura

description: Purpura associated with a reduction in circulating blood platelets which can result from a variety of factors.


ulcerative stomatitis

description: Inflammation of the mouth mucosa associated with the presence of ulcers.


name: dysmorphism-pectus carinatum-joint laxity syndrome

description: Dysmorphism-pectus carinatum-joint laxity syndrome is characterized by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown.


parapharyngeal meningioma

description: An ectopic meningioma that arises from the parapharyngeal space.


Leber congenital amaurosis 9

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the NMNAT1 gene.


Plasmodium vivax malaria

description: Malaria resulting from infection by Plasmodium vivax.


neonatal myasthenia gravis

description: A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. Clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. This condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. In the majority of infants the myasthenic weakness resolves (i.e., transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., persistent neonatal myasthenia gravis). (From Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4)


Usher syndrome type 2A

description: Any Usher syndrome in which the cause of the disease is a mutation in the USH2A gene.


drug-induced vasculitis

description: A skin hypersensitivity reaction due to exposure to a pharmacologic substance that is characterized by raised purpuric lesions, red macules, hemorrhagic blisters and ulcerations.


chicken neoplasm

description: A neoplasm that occurs in a chicken.


Pitt-Hopkins-like syndrome

description: Pitt-Hopkins-like syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal, or mildly delayed, motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated.


name: mitochondrial complex 1 deficiency, nuclear type 23


name: split hand-foot malformation 1 with sensorineural hearing loss

description: Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.


name: ceroid lipofuscinosis, neuronal, 6B (Kufs type)

description: Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN6 gene.


name: infective dermatitis associated with HTLV-1

description: A rare and severe chronic disease characterized by recurrent chronic eczema (with erythematous, scaly and crusted lesions) mainly affecting seborrheic areas (e.g. scalp, forehead, eyelids, paranasal and periauricular skin, neck, axillae, and groin), a generalized fine papular rash, chronic nasal discharge with crusting of the anterior nares, and non-virulent Staphylococcus aureus or beta-hemolytic Streptococcus infections, thought to be a result of HTLV-1-induced immunosuppression. Lymphadenopathy, anemia, mild to moderate pruritus and increased incidence of other infections (e.g. crusted scabies) have also been reported in some patients. Patients may subsequently develop other HTLV-1 associated conditions such as adult T-cell leukemia/lymphoma and tropical spastic paraparesis.


name: lissencephaly type 3-metacarpal bone dysplasia syndrome

description: This syndrome is characterized by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. It has been described in two brothers. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and fetal akinesia sequence.


aplasia cutis autosomal recessive

description: Aplasia cutis with autosomal recessive inheritance.


chromosome 1q deletion

description: Chromosome 1q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on thelong arm (q) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.


malignant melanoma of the mucosa

description: A melanoma (disease) that involves the mucosa.


name: inborn disorder of glutamate/glutamine and aspartate/asparagine metabolism

description: A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of glutamate/glutamine and aspartate/asparagine.


name: malignant vaginal mixed epithelial and mesenchymal neoplasm

description: A malignant neoplasm that arises from the vagina and is characterized by the presence of an epithelial and a mesenchymal component. This category includes adenosarcoma, carcinosarcoma, and malignant mixed tumor resembling synovial sarcoma.


pityriasis versicolor

description: A yeast infection usually manifested as a superficial skin infection. It may also present as a systemic infection in patients who are receiving total parenteral nutrition.


name: delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome

description: This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases.


cutis laxa, sika deer

description: Cutis laxa that occurs in sika deer.


name: alopecia-intellectual disability syndrome 4


name: intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature


kidney leiomyosarcoma

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


name: mitochondrial complex 3 deficiency, nuclear type 11


familial osteodysplasia, Anderson type

description: Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982.


inborn disorder of bile acid synthesis

description: Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis.


name: microcephaly 8, primary, autosomal recessive

description: Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP135 gene.


name: partial trisomy/tetrasomy of the short arm of chromosome 18


name: opportunistic bacterial infectious disease


name: neurodevelopmental disorder with hypotonia and speech delay, with or without seizures


name: isolated Dandy-Walker malformation without hydrocephalus


white muscle disease

description: A myodegeneration most frequent in calves and lambs whose dams have been fed during gestation or longer on feeds, especially legumes (fabaceae), grown in certain areas where selenium is either deficient or unavailable in the soil. It has been recorded in many countries. It has been produced experimentally in several species of animals on low-selenium intake. A similar myopathy occurs naturally in goats, deer, foals, and dogs but proof of the etiology is lacking. (Merck Veterinary Manual, 5th ed)


name: pigmented nodular adrenocortical disease, primary, 3

description: Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE8B gene.


name: thrombocytopenia, X-linked, with or without dyserythropoietic anemia

description: An X-linked condition caused by mutation(s) in the GATA1 gene, encoding erythroid transcription factor. It is characterized by thrombocytopenia, as well as abnormal platelet function and morphology. Dyserythropoietic anemia of variable severity may also be present.


pediatric fibrosarcoma

description: A malignant neoplasm arising from the deep soft tissues in children. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.


situs inversus, domestic cat

description: Situs inversus that occurs in domestic cat.


colorectal cancer, susceptibility to, 3

description: Any colorectal cancer in which the cause of the disease is a mutation in the SMAD7 gene.


name: early-onset autosomal dominant Alzheimer disease

description: A progressive dementia with reduction of cognitive functions. It presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old.


cerebral sarcoidosis

description: Sarcoidosis of the cerebrum.


herpetic whitlow

description: A painful blister of the periungual skin that is caused by herpes simplex virus type 1 or 2.


name: testicular anomalies with or without congenital heart disease


Grubben-de Cock-Borghgraef syndrome

description: Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterized by pre- and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency have also been reported in some patients.


name: familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis


hypermanganesemia with dystonia 2

description: Any hypermanganesemia with dystonia in which the cause of the disease is a mutation in the SLC39A14 gene.


name: circadian rhythm sleep disorder, delayed sleep phase type

description: A circadian sleep disorder in which the individual's internal body clock is delayed with respect to the external day/night cycle.


name: anemia, hypochromic microcytic with iron overload


name: endothelial dystrophy, congenital hereditary, with nail hypoplasia


name: thin ribs-tubular bones-dysmorphism syndrome


name: spastic paraplegia-Paget disease of bone syndrome

description: Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported.


nephrotic syndrome, dog

description: Nephrotic syndrome that occurs in dog.


name: self-limited familial neonatal-infantile epilepsy

description: An epilepsy syndrome associated with infantile period seizures, complete or nearly-complete seizure remission afterwards, usually good developmental outcome, and dominant transmission with high penetrance in pedigrees. For most affected infants, seizures begin within the first week after term birth. In a minority, however, seizures can begin after the first week but within the first several months of life. At onset, seizures may be highly recurrent, and often feature unilateral tonic limb stiffening that may alternate sides from seizure to seizure, accompanied by cyanosis and autonomic features. Limb shaking movements occur, but not in the evolving rhythmic pattern of tonic-clonic convulsions in older individuals. Neurological examination of the infant is normal between seizures. Although these seizures remit by 4-12 months of age in the majority, 15-30% of those affected have one or more seizure recurrences later, including febrile seizures, focal-onset seizures, and convulsions. Although most affected children show typical development, individuals with mild learning difficulties have been reported in families where the majority develop typically.


name: hyperphenylalaninemia due to DNAJC12 deficiency

description: Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is an autosomal recessive disorder characterized by increased serum phenylalanine usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities and intellectual disability. Laboratory analysis shows dopamine and serotonin deficiencies in the cerebrospinal fluid, and normal BH4 metabolism. Evidence suggests that treatment with neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy (summary by {1:Anikster et al., 2017}).


enthesopathy

description: A disorder involving the attachment of a tendon or ligament to a bone


name: non-functioning pituitary gland neoplasm

description: A hormone producing or non-producing pituitary gland adenoma or carcinoma, not associated with a hormonal syndrome.


name: ovalocytosis, hereditary hemolytic, with defective erythropoiesis


Joubert syndrome with oculorenal defect

description: Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease.


name: hereditary sensory and autonomic neuropathy type 2

description: Hereditary sensory and autonomic neuropathy, type 2 (HSAN2) is an inherited disorder characterized by profound and universal sensory loss involving large and small fiber nerves, and marked hypotonia.


name: autosomal dominant non-syndromic intellectual disability

description: Autosomal dominant form of non-syndromic intellectual disability.


Sakati-Nyhan syndrome

description: An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections.


osteochondrosis, horse

description: Osteochondrosis that occurs in horse.


ethylene glycol poisoning

description: Ethylene glycol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the production of glycolic acid, glyoxylic acid, and oxalic acid by alcohol dehydrogenase (ADH) in the liver when ethylene glycol is metabolized, characterized initially by euphoria, slurred speech, encephalopathy, coma and seizures, and followed by late manifestations such as tachycardia, arrhythmias, myocardial depression, hemodynamic imbalance and, finally, acute renal failure.


hemoglobin C disease

description: Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia).


name: peripheral motor neuropathy, childhood-onset, biotin-responsive


lissencephaly 8

description: Any lissencephaly (disease) in which the cause of the disease is a mutation in the TMTC3 gene.


name: central hypoventilation syndrome, congenital, 3


name: selective peripheral resistance to thyroid hormone

description: A thyroid hormone resistance syndrome characterized by resistance in peripheral tissues but not in the pituitary.


Huntington disease, pig

description: Huntington disease that occurs in pig.


name: enteropathy, familial, with villous edema and immunoglobulin G2 deficiency


spinocerebellar ataxia type 35

description: Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis.


aortic valve disease 2

description: Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene.


King-Denborough syndrome

description: A rare genetic non-dystrophic myopathy characterized by the triad of congenital myopathy, dysmorphic features and susceptibility to malignant hyperthermia. Patients present with a wide phenotypic range, including delayed motor development, muscle weakness and fatigability, ptosis and facies myopathica (with or without creatine kinase elevations), skeletal abnormalities (e.g. short stature, scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (e.g. hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral infection or statin use.


tuberculoma

description: A tumor-like mass resulting from the enlargement of a tuberculous lesion.


triploidy, blue-and-yellow macaw

description: Triploidy that occurs in blue-and-yellow macaw.


name: neurodevelopmental disorder with microcephaly and movement abnormalities


acquired color blindness

description: Non-heritable difficulty in distinguishing colors.


purpura fulminans

description: A severe, rapidly fatal reaction occurring most commonly in children following an infectious illness. It is characterized by large, rapidly spreading skin hemorrhages, fever, or shock. Purpura fulminans often accompanies or is triggered by disseminated intravascular coagulation.


familial ovarian cancer

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


name: intellectual disability, autosomal dominant 9

description: An autosomal dominant condition caused by mutation(s) in the KIF1A gene, encoding kinesin-like protein KIF1A. It is characterized by microcephaly, intellectual disability, and delayed psychomotor development. The condition is progressive, occurs in early infancy, and is of variable severity.


primary amebic meningoencephalitis

description: A infectious disease involving the Naegleria fowleri.


retinitis pigmentosa 44

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


ameloblastoma, dog

description: Ameloblastoma that occurs in dog.


feline reticulum cell sarcoma

description: Reticulum cell sarcoma that occurs in a cat.


distal trisomy 1p36

description: Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (incl. slopping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported.


congenital renal artery stenosis

description: A narrowing of renal arteries that is present since birth.


name: non-acquired combined pituitary hormone deficiency

description: Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis.


age related macular degeneration 11

description: Any age-related macular degeneration in which the cause of the disease is a mutation in the CST3 gene.


name: proximal myopathy with focal depletion of mitochondria


lathyrism

description: A paralytic condition of the legs caused by ingestion of lathyrogens, especially beta-aminopropionitrile or beta-N-oxalyl amino-L-alanine, which are found in the seeds of plants of the genus lathyrus.


citrullinemia, non-human animal

description: Citrullinemia that occurs in non-human animals.


vitamin D-dependent rickets, type 2

description: Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia.


name: ectodermal dysplasia-syndactyly syndrome 1

description: Any ectodermal dysplasia-syndactyly syndrome in which the cause of the disease is a mutation in the NECTIN4 gene.


central core myopathy

description: An autosomal dominant congenital disorder affecting the skeletal muscles. Microscopically, it is characterized by disorganized areas, which are called cores, seen usually in the center of the muscle fibers. Clinically it presents as mild to severe muscle weakness. It may be associated with skeletal abnormalities including scoliosis, joint deformities, and hip dislocation.


name: congenital absence of thigh and lower leg with foot present, bilateral


description: T-cell immunodeficiency with epidermodysplasia verruciformis is a rare primary immunodeficiency characterized by increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype.


name: acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome

description: This syndrome is characterized by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy.


paratenonitis with tendinosis

description: Paratenonitis associated with intratendinous degeneration.


name: trimethylaminuria (fishy taint), Japanese quail

description: Trimethylaminuria (fishy taint) that occurs in Japanese quail.


distal arthrogryposis type 5D

description: Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature.


human African trypanosomiasis

description: A parasitic disorder caused by protozoa of the Trypanosoma brucei species. It is transmitted by flies and is endemic in various regions of Sub-Saharan Africa. Signs and symptoms include fever, joint pain, headache, and significant swelling of the lymph nodes. If left untreated, the parasitic infection causes anemia, heart, kidney, and endocrine failure, and neurologic damage. Subsequently patients develop confusion, disruption of the sleep cycle, and mental deterioration. The infection may lead to coma and death.


neuropathy with hearing impairment

description: This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy.


posterior mediastinum cancer

description: A malignant neoplasm involving the posterior mediastinum.


name: autosomal recessive nonsyndromic hearing loss 86

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene.


localized Castleman disease

description: Localized Castleman disease (LCD) is the most common form of Castleman disease (CD) and it is usually asymptomatic or it may present with enlarged lymph nodes. LCD may be cured by surgical resection.


BRCA2-related cancer predisposition

description: Hereditary cancer predisposition due to variation(s) in the BRCA2 gene. Germline pathogenic or likely pathogenic variants in the BRCA2 gene confer an autosomal dominant predisposition to hereditary breast and ovarian cancer. Tumor formation at other sites, including pancreatic and prostate cancer, have been described.


hypocalcemic rickets

description: Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR).


hydranencephaly, sheep

description: Hydranencephaly that occurs in sheep.


name: developmental and epileptic encephalopathy, 56


mental disorder

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


intermediate cell type uveal melanoma

description: Uveal melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells.


immune system organ benign neoplasm

description: A benign neoplasm that involves the immune organ.


autosomal recessive ocular albinism

description: Autosomal recessive form of ocular albinism (disease).


name: peroxisome biogenesis disorder 12A (Zellweger)


Astroviridae infectious disease

description: Infections with astrovirus, causing gastroenteritis in human infants, calves, lambs, and piglets.


post-viral disorder

description: A post-infectious disorder that follows viral infection but is distinct from the viral infection itself and its usual manifestations.


name: mandibulofacial dysostosis syndrome, Bauru type


sarcoma with BCOR genetic alterations

description: A small cell sarcoma that is characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm and the presence of BCOR genetic alterations.


name: protein-losing enteropathy, non-human animal

description: Protein-losing enteropathy that occurs in non-human animals.


description: Spinocerebellar ataxia-dysmorphism is marked by characteristic facies associated with dysarthria, delayed psychomotor development, ataxia, scoliosis and foot deformities. Three cases have been described and transmission appears to be autosomal recessive.


Bartter syndrome type 4

description: A form of Bartter syndrome characterized by maternal polyhydramnios, premature delivery, salt loss, polyuria and sensorineural deafness, associated with hypokalemic and hypochloremic metabolic alkalosis, increased levels of plasma renin and aldosterone, and low to normal blood pressure. Urinary calcium excretion rates are variable, and nephrocalcinosis is typically absent.


microphthalmia, pig

description: Microphthalmia that occurs in pig.


Zimmermann-Laband syndrome

description: Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.


name: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome

description: A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has material basis in mutation in the CLIC2 gene on chromosome Xq28.


name: duodenal ulcer due to antral G-cell hyperfunction


tetralogy of fallot, snow leopard

description: Tetralogy of fallot that occurs in snow leopard.


amelogenesis imperfecta type 1B

description: Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ENAM gene.


Peyronie disease

description: A condition characterized by hardening of the penis due to the formation of fibrous plaques on the dorsolateral aspect of the penis, usually involving the membrane (tunica albuginea) surrounding the erectile tissue (corpus cavernosum penis). This may eventually cause a painful deformity of the shaft or constriction of the urethra, or both.


hypothalamic neoplasm

description: A primary or metastatic neoplasm that affects the hypothalamus.


acrokeratosis verruciformis

description: A rare genetic skin keratinization disorder with an autosomal dominant mode of inheritance. It is characterized by numerous flesh-colored warty papules on the back of the hands, medial aspect of the feet, knees, and elbows.


name: multiple benign circumferential skin creases on limbs 1


name: cutis gyratum acanthosis nigricans craniosynostosis


name: disorder of carnitine cycle and carnitine transport


migraine, familial hemiplegic, 3

description: Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the SCN1A gene.


Charcot-Marie-Tooth disease

description: An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs.


name: partial deletion of the long arm of chromosome 20


name: megalencephalic leukoencephalopathy with subcortical cysts 3


impetigo herpetiformis

description: An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy.


name: leukemia, acute myelocytic, with polyposis coli and colon cancer


name: familial idiopathic steroid-resistant nephrotic syndrome with minimal changes


1p21.3 microdeletion syndrome

description: 1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder.


ALS2-related motor neuron disease

description: Any motor neuron disease in which the cause of the disease is a mutation in the ALS2 gene.


name: congenital muscular dystrophy with intellectual disability and severe epilepsy


familial hypobetalipoproteinemia 2

description: Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the ANGPTL3 gene.


maternally-inherited spastic paraplegia

description: A rare, genetic, complex hereditary spastic paraplegia disorder characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination.


incontinentia pigmenti

description: Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).


name: inflammatory linear verrucous epidermal nevus


name: brachydactyly, intraventricular septal defect, and deafness


name: intellectual disability-hypotonia-skin hyperpigmentation syndrome


fibular dimelia-diplopodia syndrome

description: Fibular dimelia-diplopodia syndrome is a rare developmental anomaly.


name: spastic paraplegia 18a, autosomal dominant


name: X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome


name: spinocerebellar ataxia, autosomal recessive 29


name: congenital hypoplasia of the mitral valve annulus

description: Hypoplasia of the mitral valve annulus is a rare, congenital, mitral valve malformation characterized by hypoplastic annulus which usually appears within a complete mitral valve hypoplasia, causing mitral valve stenosis. Association with other cardiac malformation is common, including coarctation of the aorta, aortic valve stenosis, Shone complex and hypoplastic left heart syndrome.


name: autoimmune thrombocytopenic purpura, pig

description: Autoimmune thrombocytopenic purpura that occurs in pig.


description: A category of clonal hematopoietic disorders that have both myelodysplastic and myeloproliferative features at the time of initial presentation.


patent ductus arteriosus, domestic cat

description: Patent ductus arteriosus that occurs in domestic cat.


name: microcephaly, growth retardation, cataract, hearing loss, and unusual appearance


multiple epiphyseal dysplasia type 4

description: Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.


name: dwarfism with stiff joints and ocular abnormalities


cornea cancer

description: A malignant neoplasm involving the cornea.


autosomal dominant keratitis

description: Hereditary keratitis is characterized by opacification and vascularisation of the cornea, often associated with macula hypoplasia.


description: An inflammatory and toxic neuropathy that is characaterized by a collection of neuropsychological symptoms associated with repeated organophosphate pesticide exposure as well as nerve agent exposure. Symptoms can appear weeks after exposure and include muscle weakness, anxiety, depression, psychosis as well as cognitive and memory deficits.


nephrogenic systemic fibrosis

description: Nephrogenic systemic fibrosis (NSF) is a rare systemic fibrosing condition observed in renally impaired patients and characterized by a hardening and thickening of the skin with fibrotic plaques or papules, pruritus, joint pain and stiffness, muscle weakness, limitation of range of motion, and yellowed eyes. It is generally associated with administration of gadolinium-based magnetic resonance imaging contrast agents (GBCA) in patients with kidney disease.


postorgasmic illness syndrome

description: A rare condition in which a man develops flu-like symptoms after ejaculation (when semen is released from the penis). Specific symptoms can include extreme fatigue, weakness, feverishness or sweating, mood changes or irritability, memory or concentration problems, and/or a stuffy nose or itching eyes. Symptoms may occur within seconds, minutes, or a few hours after ejaculation. Most symptoms last for 2 to 7 days and go away on their own. The underlying cause of POIS is poorly understood. Some scientists believe it may be due to a semen allergy that causes an immediate hypersensitivity reaction. There is no standard treatment for POIS, but some men have been treated with SSRIs, antihistamines, and/or benzodiazepines. Hyposensitization therapy (decreasing the immune response by exposure to semen) reportedly improved symptoms in two men with POIS.


thyroid gland angiosarcoma

description: A usually aggressive malignant vascular tumor primarily involving the thyroid gland. It is often associated with longstanding nodular goiter.


pseudopelade of Brocq

description: Pseudo-pelade of Brocq is a rare hair abnormality characterized by onset in adulthood of soft, irregular, flesh-toned patches of alopecia primarily in the parietal and vertex portions of the scalp, without follicular hyperkeratosis or perifollicular inflammation.


amoebiasis due to free-living amoebae

description: Free-living amebae belonging to the genera Acanthamoeba, Balamuthia, Naegleria and Sappinia are important causes of disease in humans and animals. Naegleria fowleri produces an acute, and usually lethal, central nervous system (CNS) disease called primary amebic meningoencephalitis (PAM). Acanthamoeba spp. and Balamuthia mandrillaris are opportunistic free-living amebae capable of causing granulomatous amebic encephalitis (GAE) in individuals with compromised immune systems. Sappinia pedata has been implicated in a case of amebic encephalitis. Naegleria fowleri and Acanthamoeba spp., are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units.


Hennekam syndrome

description: Hennekam syndrome is characterized by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism.


autoimmune limbic encephalitis

description: A rare autoimmune encephalitis involving the mesial temporal lobes and clinically characterized by subacute onset (i. e. rapid progression of less than three months) of short-term memory deficits, seizures or psychiatric symptoms, such as behavioral changes, anxiety, depression, and psychosis. Further diagnostic criteria are bilateral abnormalities restricted to the mesial temporal lobes in brain MRI, cerebrospinal fluid pleocytosis and/or epileptic or slow-wave activity involving the temporal lobes in EEG, and reasonable exclusion of alternative causes. Paraneoplastic or non-paraneoplastic antibodies against neuronal antigens may be found in serum and/or cerebrospinal fluid.


syphilis

description: A contagious bacterial infection caused by the spirochete Treponema pallidum. It is a sexually transmitted disorder, although it can also be transmitted from the mother to the fetus in utero. Typically, it is initially manifested with a single sore which heals without treatment. If the infection is left untreated, the initial stage is followed by skin rash and mucous membrane lesions. A late stage follows, which is characterized by damage of the internal organs, including the nervous system.


sheep disease

description: Diseases of domestic and mountain sheep of the genus Ovis.


name: congenital patella dislocation, bilateral


name: myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2

description: A group of rare myeloid and lymphoid neoplasms characterized by rearrangement of the PDGFRA, PDGFRB, FGFR1, or JAK2 genes, resulting in the formation of tyrosine kinase fusion transcripts. Eosinophilia is a characteristic finding but it is not always present.


name: Leydig cell hypoplasia due to partial LH resistance


name: generalized basaloid follicular hamartoma syndrome

description: Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported.


name: rippling muscle disease with myasthenia gravis


pityriasis rosea, non-human animal

description: Pityriasis rosea that occurs in non-human animals.


hereditary angioedema type 3

description: Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.


name: alpha-N-acetylgalactosaminidase deficiency type 3

description: Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency with developmental, neurologic and psychiatric manifestations presenting at an intermediate age.


cataract 40

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


retinitis pigmentosa 10

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPDH1 gene.


name: nephrogenic diabetes insipidus-intracranial calcification syndrome

description: This syndrome is characterized by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism.


name: cervical hypertrichosis with underlying kyphoscoliosis


description: A non-severe combined immunodeficiency disorder manifesting with recurrent respiratory infections, candidiasis, diarrhea, and failure to thrive. Patients show a clear predisposition to herpes viral infections, and features of immune dysregulation, including hypereosinophilia, vitiligo, and alopecia areata. Other features include lymphadenopathy and hepatosplenomegaly. CD3+ T-cells express TCR- gamma|delta, but little or no TCR-alpha|beta.


name: shoulder and girdle defects-familial intellectual disability syndrome


name: congenital myopathy 2b, severe infantile, autosomal recessive


ornithosis

description: Disease caused by the Chlamydophila psittaci bacteria, usually transmitted from birds to humans.


keratoconjunctivitis, non-human animal

description: Keratoconjunctivitis that occurs in non-human animals.


Bardet-Biedl syndrome 13

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


name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2

description: Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RNASEH1 gene.


name: peroxisome biogenesis disorder 11A (Zellweger)


intellectual disability, X-linked 102

description: An inherited condition caused by mutation(s) in the DDX3X gene, encoding ATP-dependent RNA helicase DDX3X. It is characterized by severe intellectual disability and variable neurologic features.


description: Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare, multiple congenital anomalies syndrome characterized by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalized contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (i.e. sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970.


brachydactylous dwarfism, Mseleni type

description: Mseleni joint disease (MJD) is a rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short staure and brachydactyly have been reported in a few patients with MJD.


cleft palate, pig

description: Cleft palate that occurs in pig.


name: multiple mitochondrial dysfunctions syndrome 7


mild hemophilia A

description: Mild hemophilia A is a form of hemophilia A characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.


hereditary peripheral neuropathy

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


name: cortical blindness-intellectual disability-polydactyly syndrome

description: This syndrome is characterized by cortical blindness, intellectual deficit, and polydactyly.


name: chromosomal instability with tissue-specific radiosensitivity


substance dependence

description: The psychological or physiological need to take a substance in order to experience its effects or to avoid the effects of its absence.


ciliary body epithelioid cell melanoma

description: A epithelioid cell melanoma that involves the ciliary body.


name: metaphyseal chondrodysplasia, Kaitila type

description: Metaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982.


denture stomatitis

description: Inflammation of the mouth due to denture irritation.


carcinosarcoma of the corpus uteri

description: An aggressive malignant mixed epithelial and mesenchymal tumor that arises from the uterine corpus. It usually affects elderly postmenopausal women and presents with vaginal bleeding. It is characterized by the presence of a malignant epithelial component that is usually glandular and a sarcomatous component.


urolithiasis, sheep

description: Urolithiasis that occurs in sheep.


chronic maxillary sinusitis

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


name: intellectual disability, autosomal dominant 13

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DYNC1H1 gene.


retinitis pigmentosa-deafness syndrome

description: An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has material basis in mutation in the MTTS2 gene in the mitochondrial genome.


name: IFAP syndrome 1, with or without BRESHECK syndrome

description: An X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome.


name: laryngeal abductor paralysis-intellectual disability syndrome

description: Laryngeal abductor paralysis-intellectual disability syndrome is characterized by congenital and permanent laryngeal abductor paralysis, associated, in the majority of cases, with intellectual deficit. It has been described in several families. X-linked inheritance is likely.


name: AA amyloidosis, white-tufted-ear marmoset

description: AA amyloidosis that occurs in white-tufted-ear marmoset.


cervical benign neoplasm

description: A non-metastasizing neoplasm that arises from the cervix. Representative examples include squamous papilloma, endocervical polyp, and rhabdomyoma.


disorder of lacrimal gland

description: A disease that involves the lacrimal gland.


Wilms tumor 6

description: Any Wilms tumor in which the cause of the disease is a mutation in the REST gene.


name: deafness-epiphyseal dysplasia-short stature syndrome

description: This syndrome is characterized by sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit).


ulnar nerve lesion

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


macular corneal dystrophy, dog

description: Macular corneal dystrophy that occurs in dog.


name: antenatal multiminicore disease with arthrogryposis multiplex congenita


ectopic aldosterone-producing tumor

description: Ectopic aldosterone-producing tumor is an extremely rare aldosterone-producing neoplasm composed of aberrant adrenocortical tissue located outside the adrenal glands (e.g. in retroperitoneum, perirenal or periaortic fatty tissue, thorax, spinal canal, testes, ovaries) typically characterized by symptoms related to increased aldosterone levels (such as sustained, treatment-resistant hypertension and hypokalemia) or symptoms caused by local tumor enlargement.


T2-high asthma

description: A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of early-onset allergic asthma, late-onset eosinophilic asthma, and aspirin-exacerbated respiratory disease.


monophasic synovial sarcoma

description: A synovial sarcoma characterized by the presence of an epithelial or a spindle cell component only.


rhabdomyosarcoma of the cervix uteri

description: A rare malignant neoplasm with skeletal muscle differentiation arising from the cervix.


latent tuberculosis infection

description: Mycobacterium tuberculosis infection that does not induce infectious expression of the disease in the affected person, although it can cause continuous immune response generated towards TB antigens; person having LTBI are asymptomatic and acting as a reservoir of active tuberculosis tuberculosis cases and Mycobacterium tuberculosis and run a 5-10% risk of reactivating tuberculosis throughout their lives.


familial monosomy 7 syndrome

description: A rare neoplastic disease characterized by infantile to childhood onset of evidence of bone marrow insufficiency/failure associated with increased risk for myelodysplastic syndrome or acute myeloid leukemia. Most patients present with petechiae, easy bruising, or anemia. Rapid progression is common, and prognosis is generally poor.


polydactyly, cattle

description: Polydactyly that occurs in cattle.


vascular hemostatic disease

description: Pathological processes involving the integrity of blood circulation. Hemostasis depends on the integrity of blood vessels, blood fluidity, and blood coagulation. Majority of the hemostatic disorders are caused by disruption of the normal interaction between the vascular endothelium, the plasma proteins (including blood coagulation factors), and platelets.


alpha-gal syndrome

description: An IgE antibody response to a mammalian oligosaccharide epitope, galactose-alpha-1,3-galactose (alpha-gal).


distal chromosome 18q deletion syndrome

description: Distal chromosome 18q deletion syndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material at the end of the long arm (q) of chromosome 18.


description: A familial epilepsy syndrome in which family members display a seizure disorder from the generalized epilepsy with febrile seizures plus spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS).


name: familial isolated hypoparathyroidism due to impaired PTH secretion


multiple epiphyseal dysplasia type 5

description: Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission.


audiogenic seizures

description: Audiogenic seizures is a rare neurologic disease characterized by seizures that are triggered by acoustic stimulation, which can be simple (as in startle epilepsy) or complex (e.g. musicogenic seizures, seizures triggered by the voice).


name: generalized resistance to thyroid hormone

description: A thyroid hormone resistance syndrome characterized by resistance in the pituitary gland and in most or all of the peripheral tissues.


name: acute myeloid leukemia, PTPN11 gene mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly PTPN11 gene mutation. (Mutation of the protein tyrosine phosphatase, non-receptor type 11 gene. It is seen in cases of juvenile myelomonocytic leukemia.)


cardiac glycoside intoxication

description: A poisoning that is caused by exposure to cardiac glycoside.


name: autosomal dominant nonsyndromic hearing loss 5

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


acute zonal occult outer retinopathy

description: Acute zonal occult outer retinopathy (AZOOR) is a rare condition that affects the eyes. People with this condition may experience a sudden onset of photopsia (the presence of perceived flashes of light) and an area of partial vision loss (a blindspot). Other symptoms may include 'whitening of vision' or blurred vision. Although anyone can be affected, the condition is most commonly diagnosed in young women (average age 36.7 years). The underlying cause of AZOOR is currently unknown; however, some researchers have proposed that infectious agents (such as viruses) or autoimmunity may play a role in the development of the condition. No treatment has been proven to improve the visual outcome of AZOOR; however, systemic corticosteroids are the most commonly used therapy.


pure mitochondrial myopathy

description: Pure mitochondrial myopathy is a rare mitochondrial disease characterized by exclusive skeletal muscle involvement, without clinical evidence of other organ involvement, manifesting with progressive limb weakness, proximal limb muscle atrophy, and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia, and diminished deep tendon reflexes.


name: lymphoma, Hodgkin, X-linked pseudoautosomal


myopathy, centronuclear, 5

description: Any autosomal recessive centronuclear myopathy in which the cause of the disease is a mutation in the SPEG gene.


infective arthritis

description: The inflammation of one or more joints caused by any infectious pathogen within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint.


name: developmental delay with short stature, dysmorphic facial features, and sparse hair 1

description: Any developmental delay with short stature, dysmorphic facial features, and sparse hair in which the cause of the disease is a mutation in the DPH1 gene.


neurocristopathy

description: That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage.


name: hereditary sensory and autonomic neuropathy with spastic paraplegia

description: This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia.


short QT syndrome type 1

description: Any short QT syndrome in which the cause of the disease is a mutation in the KCNH2 gene.


polyp of maxillary sinus

description: A polyp that involves the maxillary sinus.


name: contractures - webbed neck - micrognathia - hypoplastic nipples syndrome


name: secondary hyperparathyroidism of renal origin


Fusobacterium infectious disease

description: Infections with bacteria of the genus fusobacterium.


name: immune dysregulation, autoimmunity, and autoinflammation


3M syndrome 3

description: Any 3-M syndrome in which the cause of the disease is a mutation in the CCDC8 gene.


spinocerebellar ataxia type 37

description: Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by a cerebellar syndrome along with altered vertical eye movements.


name: adducted thumbs-arthrogryposis syndrome, Christian type

description: A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism ("myopathic" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983.


name: congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome

description: An autosomal recessive condition caused by mutation(s) in the ASNS gene, encoding asparagine synthetase. It is characterized by microcephaly, severely delayed psychomotor development, progressive encephalopathy, seizures, and cortical atrophy.


intellectual disability, X-linked 97

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF711 gene.


name: mitochondrial complex 1 deficiency, nuclear type 15


phaeohyphomycosis

description: An opportunistic fungal infection caused by any of a variety of normally saprophytic fungi with hyaline hyphal elements. For example, Fusarium spp. infect neutropenic patients to cause pneumonia, fungemia, and disseminated infection with cutaneous lesions.


amelocerebrohypohidrotic syndrome

description: Kohlschütter-TC6nz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.


intellectual disability, X-linked 9

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FTSJ1 gene.


Zika virus infectious disease

description: Mosquito-born virus disease characterized by a clinical course that may be asymptomatic or mild with fever, conjunctivitis, muscle and joint pain, headache, exanthema, but may also be associated with severe neurological (meningitis, meningoencephalitis and myelitis) and auto-immune (Guillain-Barre syndrome) complications, as well as a potential increase of birth defects (microcephaly) if the infection occurs during pregnancy.


name: neurodevelopmental disorder with involuntary movements


fire ant poisoning

description: A poisoning that is caused by exposure to a fire ant bite or sting. Fire ants tend to be an aggressive insect that will sting causing very painful reactions. There are two types of fire ants which belong to the Solenopsis species.


candidal paronychia

description: A candidiasis that results in fungal infection of the outer-most layer located in nail, has material basis in Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury.


name: spondyloepimetaphyseal dysplasia, Maroteaux type

description: A very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.


congenital factor X deficiency

description: Congenital factor X deficiency is an inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms.


name: serous or mucinous cystadenoma of childhood

description: Serous or mucinous cystadenoma of childhood is a benign epithelial ovarian tumor characterized by a usually unilateral, cystic, unilocular or multilocular lesion with a thin wall or septa and no intracystic solid portion on imaging. It often presents with abdominal pain or an asymptomatic abdominal mass and can be associated with ovarian torsion or malignant transformation.


name: chronic mucocutaneous candidiasis due to monocyte chemotactic disorder


Proteus infectious disease

description: Infections with bacteria of the genus proteus.


tubulinopathy

description: A nervous system disorder characterized by complex cortical malformations including in most cases dysmorphic basal ganglia and/or corpus callosum in which the cause of the disease is a variation in a tubulin gene.


name: combined immunodeficiency due to ORAI1 deficiency

description: A form of combined immunodeficiency due to Calcium release activated Ca2+ (CRAC) channel dysfunction characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.


familial goiter, water buffalo

description: Familial goiter that occurs in water buffalo.


d-2-hydroxyglutaric aciduria 2

description: Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the IDH2 gene.


epididymis disease

description: A male reproductive system disease that is located in the epididymis.


Boudhina Yedes Khiari syndrome

description: Familial syndrome combining short stature, microcephaly, mental deficiency, seizures, hearing loss, and skin lesions


name: spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1

description: Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia.


chaotic conus spinal cord lipoma

description: A rare dysraphic spinal cord lipoma characterized by the lipomatous mass extending ventrally to the dorsal root entry zone, indicating a more severe malformation of the spinal cord. The diagnosis can be suggested on imaging but usually confirmed during surgery.


klumpke's paralysis

description: Klumpke paralysis is a type of brachial palsy in newborns. Signs and symptoms include weakness and loss of movement of the arm and hand. Some babies experience drooping of the eyelid on the opposite side of the face as well. This symptom may also be referred to as Horner syndrome. Klumpke paralysis is caused by an injury to the nerves of the brachial plexus which may result from a difficult delivery. This injury can cause a stretching (neuropraxia), tearing (called avulsion when the tear is at the spine, and rupture when it is not), or scarring (neuroma) of the brachial plexus nerves. Most infants with Klumpke paralysis have the more mild form of injury (neuropraxia) and often recover within 6 months.


name: SOX3-related X-linked pituitary hormone deficiency with or without intellectual developmental disorder

description: An X-linked syndromic intellectual disability caused by alterations to the SOX3 gene which leads to hypopituitarism with variable deficiency of hormones in the anterior lobe of the pituitary gland. In some cases there is also intellectual disability.


name: ulnar agenesis and endocardial fibroelastosis


primary ciliary dyskinesia 18

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF5 gene.


hypertrophic cardiomyopathy, dog

description: Hypertrophic cardiomyopathy that occurs in dog.


inherited acute myeloid leukemia

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


name: combined oxidative phosphorylation deficiency 59


name: porcine reproductive and respiratory syndrome

description: A syndrome characterized by outbreaks of late term abortions, high numbers of stillbirths and mummified or weak newborn piglets, and respiratory disease in young unweaned and weaned pigs. It is caused by porcine respiratory and reproductive syndrome virus. (Radostits et al., Veterinary Medicine, 8th ed, p1048)


Johanson-Blizzard syndrome

description: A multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.


autoimmune neuropathy

description: An autoimmune form of peripheral neuropathy.


proliferative fasciitis

description: A rapidly growing, poorly circumscribed, mass-forming proliferation that arises from the subcutaneous tissues. It is characterized by the presence of spindle-shaped fibroblasts, round ganglion-like cells, myxoid to collagenous stroma formation, and high mitotic activity. It recurs only rarely following local excision and does not metastasize.


renal-hepatic-pancreatic dysplasia 2

description: Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NEK8 gene.


name: neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia


name: hemolytic disease of the newborn with Kell alloimmunization


inborn vitamin B12 deficiency

description: Low serum levels of vitamin B12 (cobalamin) due to poor intestinal absorption, decreased dietary intake, or increased physiologic requirement.


name: adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

description: Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases.


urolithiasis, Rhesus monkey

description: Urolithiasis that occurs in Rhesus monkey.


PDE6A-related retinopathy

description: Any retinopathy caused by variants in the PDE6A gene.


eccrine sweat gland neoplasm

description: A neoplasm involving a eccrine sweat gland.


Omsk hemorrhagic fever

description: Omsk hemorrhagic fever (OHF), caused by Omsk hemorrhagic fever virus (OHFV), is a zoonotic disease characterized by fever, nausea, myalgia and moderately severe hemorrhagic manifestations as well as in some cases meningitis, pneumonia and nephrosis.


name: microcephaly, short stature, and impaired glucose metabolism 2

description: Any microcephaly, short stature, and impaired glucose metabolism in which the cause of the disease is a mutation in the PPP1R15B gene.


autosomal dominant distal myopathy

description: Autosomal dominant form of distal myopathy.