name: mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

description: Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterized by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA.


dystonia 12

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

description: Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress.


name: acute myeloid leukemia, FLT3 tyrosine kinase domain point mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly FLT3 tyrosine kinase domain point mutation. (Single nucleotide mutations in the tyrosine kinase domain encoded by the human FLT3 gene that are associated with acute myeloid leukemia and poor prognosis.)


trisomy 12p

description: Trisomy 12p is an extremely rare chromosomal disorder (over 30 cases reported worldwide) characterized by craniofacial malformations (round face, prominent cheeks, high bulging forehead, broad and flat nasal bridge, short nose with anteverted nostrils, long philtrum, prominent and everted lower lip, low-set ears, abnormally folded helix, protuberant antihelix), postnatal growth retardation, mental and psychomotor retardation, generalized hypotonia, abnormally short wide hands and/or other abnormalities.


name: epithelial and subepithelial corneal dystrophy


craniomicromelic syndrome

description: Craniomicromelic syndrome is a very rare disorder characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges and finger and toe syndactyly.


name: AXIN2-related attenuated familial adenomatous polyposis


name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

description: Chromosome 16p13.3deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide information about whether the deletion was inherited. In most cases, parents do not have any chromosome abnormalities. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause signs or symptoms, but it increases the risk for having a child with a chromosome abnormality like a deletion. Treatment is based on the signs and symptoms present in each person.To learn more about chromosome abnormalities in general, view our GARD fact sheet on Chromosome Disorders.


name: growth delay-hydrocephaly-lung hypoplasia syndrome

description: Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities.


age related macular degeneration 12

description: Any age-related macular degeneration in which the cause of the disease is a mutation in the CX3CR1 gene.


acquired lipodystrophy

description: An instance of lipodystrophy (disease) that is acquired during the lifetime of the individual.


name: short chain acyl-CoA dehydrogenase deficiency

description: Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy.


name: lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis


amelia of upper limb

description: A non-syndromic amelia that involves the forelimb.


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

description: Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia.


Boomerang dysplasia

description: Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing.


ataxia telangiectasia, non-human animal

description: Ataxia telangiectasia that occurs in non-human animals.


name: disease arising from reactivation of latent virus

description: An infectious disease that arises from reactivation of a virus from a latent phase to a lytic phase.


chicken fibrosarcoma

description: Fibrosarcoma that occurs in a chicken.


nail tumor

description: A neoplasm involving a nail.


osteogenesis imperfecta type 6

description: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINF1 gene.


Rothmund-Thomson syndrome type 2

description: Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.


name: autosomal recessive progressive external ophthalmoplegia

description: Autosomal recessive form of progressive external ophthalmoplegia.


dysplasia of head of femur, Meyer type

description: Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis.


reproductive system neoplasm

description: A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system.


name: mitochondrial complex I deficiency, nuclear type 1


sexual masochism disorder

description: A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the act (real, not simulated) of being humiliated, beaten, bound, or otherwise made to suffer.


name: berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification


AVL induced bursal lymphoma

description: Malignant lymphoma of the bursa of Fabricius, induced by avian leukosis virus occurring in birds.


name: leukoencephalopathy, diffuse hereditary, with spheroids 1

description: A rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy.


name: radius, aplasia of, with cleft lip/palate


name: autosomal recessive nonsyndromic hearing loss 6

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


benign neoplasm of pharynx

description: A benign neoplasm that involves the pharynx.


cone-rod dystrophy 2

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


name: hypomagnesemia, seizures, and intellectual disability 1


sporadic fatal insomnia

description: A rare sporadic human prion disease characterized by adult onset of progredient neurodegeneration presenting as a combination of psychiatric, sleep, and oculomotor disturbances, with development of progressive cognitive impairment (the predominantly affected cognitive domains being memory, temporal and/or spatial orientation, language, executive functions, and attention), postural instability, and sometimes additional motor abnormalities and autonomic hyperactivity, in the course of the disease. Bilateral thalamic hypometabolism on FDG-PET imaging and positive prion seeding activity in the cerebrospinal fluid are present in many cases. The disease is fatal within typically two to three years.


autism-facial port-wine stain syndrome

description: This syndrome is characterized by the presence of a unilateral angioma on the face and autistic developmental problems characterized by language delay and atypical social interactions.


dacryocystitis-osteopoikilosis syndrome

description: Dacryocystitis - osteopoikilosis is an exceedingly rare autosomal dominant disorder reported in only a few patients to date and is characterized by dacryocystitis due to lacrimal canal stenosis,and osteopoikilosis (demonastratedr adiologically as discrete spherical osteosclerotic lesions of 2-10mm in diameter).


polycystic kidney disease, degu

description: Polycystic kidney disease that occurs in degu.


adult epithelioid sarcoma

description: An epithelioid sarcoma occurring in adults.


hemometra

description: Blood-filled uterus.


name: neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2


human HOXA1 syndromes

description: Human HOXA1 syndromes is characterized by deafness, central hypoventilation, congenital ocular paralysis and developmental retardation. Cardiac anomalies and paralysis of the vocal chords may also be present. Six cases have been reported so far. Transmission is thought to be autosomal recessive.


name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13


blastomycosis

description: Blastomycosis is a rare infection that may develop when people inhale a fungus called Blastomyces dermatitidis, a fungus that is found in moist soil, particularly where there is rotting vegetation. The fungus enters the body through the lungs, infecting them. The fungus then spreads to other areas of the body.The infection may affect the skin, bones and joints, and other areas. The disease usually affects people with weakened immune systems, such as those with HIV or who have had an organ transplant.


name: spondyloepimetaphyseal dysplasia with multiple dislocations

description: A rare disorder caused by mutation in the KIF22 gene. It is characterized by short stature, midface retrusion, progressive knee malalignment, generalized ligamentous laxity, and mild spinal deformity.


congenital primary lymphedema of Gordon

description: A rare primary lymphedema characterized by bilateral, painless lower limb swelling present at birth. Prominent veins around the ankles and on the dorsa of the feet, dysplastic and upslanting toenails due to edema of the nailbed, and subtle dysmorphic facial features (such as high forehead, hypertelorism, depressed nasal bridge, mild bilateral ear dysplasia, and short neck) have also been described. The degree of lymphatic impairment is milder than in the otherwise clinically similar Milroy disease, as evidenced by slightly less severe lymphedema and significantly more uptake of tracers on lymphoscintigraphy.


platinum-induced ototoxicity

description: Progressive, bilateral, and irreversible sensorineural hearing loss as a frequently encountered side effect of platinum-based chemotherapy such as cisplatin and carboplatin.


name: spinal muscular atrophy with congenital bone fractures 1

description: Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the TRIP4 gene.


Wells syndrome

description: Wells syndrome is characterized by the presence of recurrent cellulitis-like eruptions with eosinophilia.


vesiculobullous skin disease

description: Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)


femoral vein thrombophlebitis

description: A thrombophlebitis that involves the femoral vein.


cryptorchidism, domestic cat

description: Cryptorchidism that occurs in domestic cat.


name: intellectual disability, autosomal dominant 53


name: developmental and epileptic encephalopathy, 29

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


name: myopathy, autophagic vacuolar, infantile-onset


name: macular dystrophy, fenestrated sheen type


syringomyelia, non-human animal

description: Syringomyelia that occurs in non-human animals.


description: Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency.


name: terminal osseous dysplasia-pigmentary defects syndrome

description: A syndrome characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.


ADan amyloidosis

description: A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2.


name: Charcot-Marie-Tooth disease, dominant intermediate A


hereditary spastic paraplegia 17

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the BSCL2 gene.


name: cobblestone lissencephaly without muscular or ocular involvement

description: Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures.


clear cell meningioma

description: A WHO grade II morphologic variant of meningioma characterized by the presence of clear glycogen-rich polygonal cells.


migraine with brainstem aura

description: A migraine disorder characterized by episodes that are preceded by focal neurological symptoms originating in the brainstem.


primary ciliary dyskinesia 20

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC114 gene.


name: myasthenia, congenital, refractory to acetylcholinesterase inhibitors


name: basal ganglia calcification, idiopathic, 5


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


acquired hemophilia

description: Acquired hemophilia is a bleeding disorder that interferes with the body's blood clotting process. Signs and symptoms include prolonged bleeding, frequent nosebleeds, bruising throughout the body, solid swellings of congealed blood (hematomas), hematuria, and gastrointestinal or urologic bleeding. Acquired hemophilia occurs when the body's immune system attacks and disables a certain protein that helps the blood clot. About half of the cases are associated with other conditions, such as pregnancy, autoimmune disease, cancer, skin diseases, or allergic reactions to medications.


name: microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome


name: mitochondrial complex 4 deficiency, nuclear type 20


description: Craniosynostosis-intracranial calcification is a form of syndromic craniosynostosis, characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner.


chronic urticaria

description: An urticaria that is characterized by the presence of urticaria for a period exceeding 6 weeks, assuming symptoms for most days of the week.


name: autosomal dominant nonsyndromic hearing loss 49

description: An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has material basis in variation in the chromosome region 1q21-q23.


median nerve neuropathy

description: Disease involving the median nerve, from its origin at the brachial plexus to its termination in the hand. Clinical features include weakness of wrist and finger flexion, forearm pronation, thenar abduction, and loss of sensation over the lateral palm, first three fingers, and radial half of the ring finger. Common sites of injury include the elbow, where the nerve passes through the two heads of the pronator teres muscle (pronator syndrome) and in the carpal tunnel (carpal tunnel syndrome).


6q16 deletion syndrome

description: Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.


name: intrauterine growth retardation with increased mitomycin c sensitivity


progressive myoclonic epilepsy type 6

description: Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the GOSR2 gene.


Charcot-Marie-Tooth disease type 2A2

description: Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (CMT2A2) is a subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported.


somatoform disorder

description: A category of psychiatric disorders which are characterized by the presence of physical symptoms that suggest a medical condition but are not fully explained by any known medical reasons.


Adams-Oliver syndrome 6

description: Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DLL4 gene.


name: neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum


name: intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects


epidermolysis bullosa, dog

description: Epidermolysis bullosa that occurs in dog.


pacman dysplasia

description: Pacman dysplasia is characterized by epiphyseal stippling and osteoclastic overactivity. It has been described in less than 10 patients but may be underdiagnosed. It is characterized radiographically by severe stippling of the lower spine and long bones, and periosteal cloaking. Patients also have short metacarpals. The syndrome may be inherited as an autosomal recessive trait. This disorder should be included in the differential diagnosis of mucolipidosis type II. In order to make a definitive diagnosis, lysosomal storage should be investigated by electron microscopy, or enzyme assays should be performed. Familial recurrence can be easily detected by prenatal ultrasonography. This skeletal dysplasia is lethal.


Brucella abortus brucellosis

description: A bacterial infection caused by Brucella abortus that spreads from cattle to humans. Brucella abortus can cause of range of signs and symptoms including fever, chills, sweats, weight loss, malaise, headaches, myalgia, and arthralgia.


multifocal motor neuropathy

description: Multifocal motor neuropathy (MMN) is a rare acquired immune-mediatedneuropathy characterized clinically by a purely motor deficit with conduction block and asymmetric multifocal weakness, fasciculations, and cramping.


trisomy 5p

description: Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit.


cone-rod dystrophy 10

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the SEMA4A gene.


analphalipoproteinaemia, chicken

description: Analphalipoproteinaemia that occurs in chicken.


name: spinal muscular atrophy, infantile, James type


name: intellectual developmental disorder, autosomal recessive 67


name: developmental delay with or without dysmorphic facies and autism


name: myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis


name: furuncular myiasis due to Dermatobia hominis


Charcot-Marie-Tooth disease type 4E

description: Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity.


name: hydrocephalus, nonsyndromic, autosomal recessive 1

description: Any congenital hydrocephalus in which the cause of the disease is a mutation in the CCDC88C gene.


MASS syndrome

description: A genetic disorder of connective tissue caused by mutations in the FBN1 gene. Connective tissue is the material between the cells of the body that gives tissues form and strength. Symptoms include mitral valve prolapse, nearsightedness, borderline and non-progressive aortic enlargement, and skin and skeletal findings that overlap with those seen in Marfan syndrome. Treatment is based on the individuals symptoms.


description: Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity.


familial hyperprolactinemia

description: Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple affected family members. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual disfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients.


name: recessive dystrophic epidermolysis bullosa-generalized other

description: Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities.


orchitis, domestic cat

description: Orchitis that occurs in domestic cat.


name: Charcot-Marie-Tooth disease dominant intermediate E

description: Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is characterized by the association of Charcot-Marie-Tooth disease (hereditary peripheral neuropathy) with nephropathy. So far, around 15 cases have been described. All patients had proteinuria (with or without microhematuria) at onset and some patients presented with nephrotic syndrome. In the majority of cases, pathological studies revealed glomerulosclerosis. The mode of transmission is unknown.


name: thiamine-responsive megaloblastic anemia syndrome

description: Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.


ermine phenotype

description: A rare deafness characterized by the association of bilateral sensorineural hearing loss and white hair with scattered black tufts, as well as skin areas of hyper- and hypopigmentation. Additional reported features include global developmental delay and moderate intellectual disability, growth retardation, microcephaly, hypotonia, mild dysmorphic facial features (deeply set eyes, broad nasal bridge, slight bowing of the upper lip), retinal depigmentation, anomalies of the fingers and toes, and white matter abnormalities on brain imaging.


name: oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies


name: hyperzincemia with functional zinc depletion


acquired idiopathic torsion dystonia

description: An instance of idiopathic torsion dystonia that is acquired during the lifetime of the individual.


name: familial idiopathic dilatation of the right atrium

description: Idiopathic dilatation of the right atrium (IDRA) is a rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications.


name: intellectual disability, autosomal dominant 8

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN1 gene.


isolated microphthalmia

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


childhood-onset nemaline myopathy

description: Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM) characterized by distal muscle weakness, and sometimes slowness of muscle contraction.


lymph node cancer

description: A primary or metastatic malignant tumor involving the lymph node. Lymphomas and metastatic carcinomas are representative examples. -- 2004


name: familial partial lipodystrophy, Dunnigan type

description: Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.


name: muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers


name: glycogen storage disease due to muscle and heart glycogen synthase deficiency

description: A glycogen storage disease characterized by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase.


malignant lymphatic vessel tumor

description: Neoplasms composed of lymphoid tissue, a lattice work of reticular tissue the interspaces of which contain lymphocytes. The concept does not refer to neoplasms located in lymphatic vessels.


louping ill

description: An acute tick-borne arbovirus infection causing meningoencephalomyelitis of sheep.


pressure-induced localized lipoatrophy

description: Pressure-induced localized lipoatrophy is a rare, acquired, localized lipodystrophy characterized by band-like, horizontal, asymptomatic, lipoatrophic depressions with clinically normal overlying skin usually involving the anterolateral aspect of the thighs. An identifiable history of the repeated mechanical microtrauma due to occupational or postural habits is present.


description: Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula.


Leber congenital amaurosis 1

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GUCY2D gene.


name: immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias

description: An autosomal recessive immunologic disorder characterized by the onset of recurrent sinopulmonary infections in early childhood. Laboratory studies reveal hypogammaglobulinemia with decreased memory B cells that show impaired class-switch recombination (CSR) and decreased somatic hypermutation (SHM). Due to abnormal antibody production and impaired self-tolerance, patients may develop autoimmune cytopenias, such as thrombocytopenia, or autoimmune features, such as vitiligo. There are also defects in the T-cell compartment.


alternating hemiplegia of childhood 1

description: Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A2 gene.


heart-hand syndrome

description: Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies.


chikungunya

description: An infection that is caused by the Chikungunya virus, which is transmitted by mosquitoes; it is characterized by fever and severe arthralgia.


narcolepsy, dog

description: Narcolepsy that occurs in dog.


name: posttransplant acute limbic encephalitis

description: Posttransplant acute limbic encephalitis is a rare, acquired, non-paraneoplastic limbic encephalitis disorder, that develops in the setting of treatment-related immunosuppression, typically after allogeneic hemapoietic stem cell transplantation, characterized by onset of confusion, headache, anterograde amnesia, seizures and/or loss of consciousness 2-6 weeks following transplantation. Bilateral, non-enhancing T2 hyperintensities in limbic structures are observed on magnetic resonance imaging. Mild cerebrospinal fluid pleocytosis and syndrome of inappropriate antidiuretic hormone secretion may also be associated.


perioral myoclonia with absences

description: Perioral myoclonia with absences is a rare epilepsy syndrome characterized by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalized tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome.


name: factor VII and Factor VIII, combined deficiency of


name: X-linked cerebral-cerebellar-coloboma syndrome syndrome

description: A rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures.


name: neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities


epilepsy, white-tufted-ear marmoset

description: Epilepsy that occurs in white-tufted-ear marmoset.


anterior foramen magnum meningioma

description: A meningioma that affects the anterior foramen magnum.


white platelet syndrome

description: White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding.


neuronal ceroid lipofuscinosis 9

description: Neuronal ceroid lipofuscinosis 9 (CLN9-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 4 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). The underlying genetic cause of CLN9-NCLis unknown but it appears to be inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.


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


Becker nevus syndrome

description: Becker nevus syndrome is characterized by the presence of a Becker nevus in association with underdevelopment (hypoplasia) of the breast or other skin-related, muscular, or skeletal defects, all of which usually involve the same side of the bodyas the nevus (ipsilateral). Specific signs and symptoms in addition to the nevus may include ipsilateral breast hypoplasia; skeletal abnormalities such ashypoplasia of the shoulder girdle, scoliosis, fused ribs, and ipsilateral shortness of the arm; and several other features. Thecondition is thought to be sporadic (occurring in individuals with no history of the condition in the family). Treatment varies depending upon the specific symptoms present and the extent of the condition in the affected individual.


cutaneous mucinosis

description: The mucinoses are a diverse group of disorders which have in common the deposition of basophilic, finely granular and stringy material (mucin) in the connective tissues of the dermis (dermal mucinoses), in the pilosebaceous follicles (follicular mucinoses), or in the epidermis and tumors derived therefrom (epithelial mucinoses).


polydactyly, guanaco

description: Polydactyly that occurs in guanaco.


Darier disease, dog

description: Darier disease that occurs in dog.


corneal dystrophy, dog

description: Corneal dystrophy that occurs in dog.


thrombocytopenia 1

description: An X-linked recessive bleeding disorder caused by mutation(s) in the WAS gene, encoding Wiskott-Aldrich syndrome protein, resulting in thrombocytopenia.


description: X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems.


name: Curly hair - acral keratoderma - caries syndrome

description: Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age.


pseudohypoaldosteronism type 2E

description: Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the CUL3 gene.


HAND1 related congenital heart defect

description: A heart disease that is present at birth caused by a variation in HAND1. Representative examples include ventricular septal defect, tetralogy of Fallot, and double outlet right ventricle.


pustular pyoderma gangrenosum

description: A rare subtype of pyoderma gangrenosum characterized by multiple painful, sterile pustules with a surrounding erythematous halo, predominantly occurring on the trunk and extensor surfaces of the limbs, and potentially persisting for months. Histopathology shows a dermal neutrophilic infiltrate and subcorneal neutrophilic micropustules. The condition is commonly associated with inflammatory bowel disease.


atrial fibrillation, horse

description: Atrial fibrillation that occurs in horse.


Meckel syndrome, type 2

description: Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM216 gene.


hyperekplexia, dog

description: Hyperekplexia that occurs in dog.


renal osteodystrophy

description: Abnormalities of bone mineral metabolism associated with chronic kidney disease.


narcolepsy, domestic cat

description: Narcolepsy that occurs in domestic cat.


name: fundus dystrophy, pseudoinflammatory, recessive form


description: A neoplasm of lymphoblasts committed to the T-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called T acute lymphoblastic leukemia. When it involves nodal or extranodal sites it is called T lymphoblastic lymphoma. (WHO, 2001)


name: jaundice, familial obstructive, of infancy


name: KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome


name: cleft palate-large ears-small head syndrome

description: Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadia, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed.


name: autosomal recessive nonsyndromic hearing loss 2

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene.


name: isolated total cerebellar vermis agenesis


name: neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties


immunodeficiency, common variable, 5

description: Any common variable immunodeficiency in which the cause of the disease is a mutation in the MS4A1 gene.


hemophilic arthropathy

description: A form of arthritis that affects hemophiliacs, which is characterized by bleeding into the joint space.


name: sacral hemangiomas multiple congenital abnormalities


biphasic synovial sarcoma

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


name: hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

description: This is an autosomal dominant disorder caused by mutations in the RUNX1 gene and is characterized by mild to moderate thrombocytopenia, platelet functional and/or ultrastructural defects and a predisposition to hematologic malignancies, most often AML and MDS, and less frequently T-ALL.


striate palmoplantar keratoderma

description: Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed.


name: Bryant-Li-Bhoj neurodevelopmental syndrome 1


name: muscular dystrophy-dystroglycanopathy type B5

description: A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3.


name: familial primary hypomagnesemia with normocalciuria and normocalcemia

description: Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay.


description: Acute post streptococcal glomerulonephritis is an immunologic response of the kidney to infection, characterized by the sudden appearance of edema, hematuria, proteinuria and hypertension. It is essentially a disease of childhood that accounts for approximately 90% of renal disorders in children. The disease occurs especially in children between the ages of 2 and 12 years and young adults, and more often in male than in female.


name: autosomal dominant complex spastic paraplegia

description: Autosomal dominant form of complex hereditary spastic paraplegia.


name: disorder of phospholipids, sphingolipids and fatty acids biosynthesis


name: syndromic X-linked intellectual disability 7

description: Syndromic X-linked intellectual disability 7, also called MRXS7, is characterized by X-linked intellectual deficit, obesity, hypogonadism, and tapering fingers.


name: APC-related attenuated familial adenomatous polyposis


dermatomyositis, dog

description: Dermatomyositis that occurs in dog.


Charcot-Marie-Tooth disease type 4J

description: Charcot-Marie-Tooth disease, type 4J (CMT4J) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases.


Brugada syndrome 2

description: Any Brugada syndrome in which the cause of the disease is a mutation in the GPD1L gene.


name: autosomal recessive nonsyndromic hearing loss 15

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GIPC3 gene.


candidiasis, familial, 6

description: Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17F gene.


pseudohypoaldosteronism type 2B

description: Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK4 gene.


GATA5-related congenital heart defects

description: A congenital heart disease that is present at birth. Representative examples include tetralogy of fallot, bicuspid aortic valve, atrial septal defect, double outlet right ventricle, ventricular septal defect, and coarctation of the aorta, and atrioventricular canal.


primary brain neoplasm

description: A neoplasm arising from the brain.


name: STAT3-related early-onset multisystem autoimmune disease

description: An autosomal dominant condition caused by mutation(s) in the STAT3 gene, encoding signal transducer and activator of transcription 3. It is characterized by variable features along a spectrum of autoimmune disorders affecting multiple organs. Common manifestations may include insulin-dependent diabetes mellitus and autoimmune enteropathy, or celiac disease, and autoimmune hematologic disorders. Other features include short stature and nonspecific dermatitis.


hereditary hemorrhagic telangiectasia

description: A disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting.


metachronous osteosarcoma of the bone

description: A bone osteosarcoma that has metastasized to skeletal or extraskeletal sites.


name: neurodevelopmental disorder with hypotonia, seizures, and absent language


intestinal botulism

description: A rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia. The disease affects infants (infant botulism) and very rarely adults (adult intestinal botulism).


name: benign partial epilepsy with secondarily generalized seizures in infancy

description: Benign partial epilepsy with secondarily generalized seizures in infancy is a rare infantile epilepsy syndrome characterized by seizures presenting with motion arrest and staring. They are followed by generalized tonic-clonic convulsions with normal interictal EEG and focal paroxysmal discharges, followed by generalization in ictal EEG. Seizures usually occur in clusters and are responsive to treatment. Psychomotor development is normal.


secondary dentine

description: Dentin formed by normal pulp after completion of root end formation.


description: Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy.


linear IgA Dermatosis

description: Autoimmune disease characterized by subepidermal blisters and linear deposition of autoantibodies at the dermoepidermal junction. The accumulated autoantibodies are of immunoglobulin A and occasionally immunoglobulin G classes against epidermal basement membrane proteins. The dermatosis is sometimes associated with malignancies and use of certain drugs (e.g., vancomycin).


Castleman-Kojima disease

description: A clinicopathologic variant of multicentric Castleman's disease characterized by thrombocytopenia, ascites (anasarca), microcytic anemia, myelofibrosis, renal dysfunction, and organomegaly


brittle cornea syndrome

description: Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.


thanatophoric dysplasia type 1

description: Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.


Pierpont syndrome

description: Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear.


immature cataract

description: A cataract disease in which the cataract contains some transparent protein


hereditary spastic paraplegia 62

description: Autosomal recessive spastic paraplegia type 62 is a pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some.


isolated adrenal insufficiency

description: An ABCD1 deficiency that presents with primary adrenocortical insufficiency between age two years and adulthood and most commonly by age 7.5 years, without evidence of neurologic abnormality; however, some degree of neurologic disability (most commonly adrenomyeloneuropathy (AMN)) usually develops by middle age.


name: myasthenic syndrome, congenital, 25, presynaptic


hypoplastic left heart syndrome 2

description: Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the NKX2-5 gene.


congenital bowing of long bones

description: Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae.


hyperargininemia

description: Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.


retroperitoneal cancer

description: A primary or metastatic malignant neoplasm involving the retroperitoneum. The vast majority of cases are carcinomas, lymphomas, or sarcomas.


name: congenital stationary night blindness 1C

description: Any congenital stationary night blindness in which the cause of the disease is a mutation in the TRPM1 gene.


allergic rhinitis, cattle

description: Allergic rhinitis that occurs in cattle.


name: autosomal recessive nonsyndromic hearing loss 22

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


name: syndromic X-linked intellectual disability 34

description: Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.


RAB23-related Carpenter syndrome

description: Any Carpenter syndrome in which the cause of the disease is a mutation in the RAB23 gene.


hereditary spastic paraplegia 19

description: Autosomal dominant spastic paraplegia type 19 is a pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy.


diabetes mellitus, horse

description: Diabetes mellitus that occurs in horse.


name: dyskeratosis congenita, autosomal dominant 1

description: A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERC on chromosome 3q26.2.


endocardium disorder

description: A disease involving the endocardium.


lichen disease

description: A long-term skin condition that mainly affects the skin of the genitals. It usually causes itching and white patches to appear on the affected skin.


anaplastic/large cell medulloblastoma

description: A medulloblastoma composed of sheets of large cells mixed with cells characterized by marked nuclear pleomorphism and high mitotic activity.


familial glucocorticoid deficiency

description: Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency.


intracranial hypotension

description: Reduction of cerebrospinal fluid pressure characterized clinically by headache which is maximal in an upright posture and occasionally by an abducens nerve palsy (see abducens nerve diseases), neck stiffness, hearing loss (see deafness); nausea; and other symptoms. This condition may be spontaneous or secondary to spinal puncture; neurosurgical procedures; dehydration; uremia; trauma (see also craniocerebral trauma); and other processes. Chronic hypotension may be associated with subdural hematomas (see hematoma, subdural) or hygromas. (From Semin Neurol 1996 Mar;16(1):5-10; Adams et al., Principles of Neurology, 6th ed, pp637-8)


name: pseudohypoaldosteronism, type IB2, autosomal recessive


name: short stature and microcephaly with genital anomalies


name: muscular fibrosis multifocal obstructed vessels


triploidy, non-human animal

description: Triploidy that occurs in non-human animals.


infantile epilepsy syndrome

description: An epilepsy syndrome that occurs between 28 days to one year of life.


exudative vitreoretinopathy 6

description: Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the ZNF408 gene.


spinocerebellar ataxia type 34

description: A subtype of autosomal dominant cerebellar ataxia type I (ADCA type I), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.


description: This subgroup of myeloproliferative neoplasms includes cases which do not meet the morphologic criteria of any of the defined myeloproliferative neoplasms, or which have characteristics that overlap at least two of the myeloproliferative neoplasms.


description: 46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype.


name: ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome


congenital bile acid synthesis defect 1

description: Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption.


congenital left-sided heart lesions

description: Serious heritable structural anomalies of the left side of the heart, including hypoplastic left heart syndrome, aortic valve stenosis, coarctation of the aorta, mitral valve anomalies and bicuspid aortic valve, that are present from birth.


benign neoplasm of skin

description: A benign neoplasm that involves the zone of skin.


name: combined oxidative phosphorylation deficiency 35


ancylostomiasis

description: Infection by hookworms of the genus Ancylostoma.


retinitis pigmentosa, cattle

description: Retinitis pigmentosa that occurs in cattle.


primary ciliary dyskinesia 8

description: A primary ciliary dyskinesia that has material basis in variation in the chromosome region 15q24-q25.


name: congenital muscular dystrophy-infantile cataract-hypogonadism syndrome

description: Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive.


osteopetrosis, rabbit

description: Osteopetrosis that occurs in rabbit.


glucocorticoid deficiency 3

description: A variant of familial glucocorticoid deficiency caused by a defect in the steroidogenic acute regulatory protein; it may mimic lipoid congenital adrenal hyperplasia.


name: cerebral sclerosis similar to Pelizaeus-Merzbacher disease


cardiomyopathy, dog

description: Cardiomyopathy that occurs in dog.


familial temporal lobe epilepsy 5

description: A temporal lobe epilepsy that has material basis in heterozygous mutation in the CPA6 gene on chromosome 8q13.


premature aging syndrome

description: Changes in the organism associated with senescence, occurring at an accelerated rate.


primary pulmonary hypertension

description: Increased blood pressure in the arteries of the lungs; the etiology is unknown.


neoplasm of cerebral hemisphere

description: A neoplasm involving a cerebral hemisphere.


name: Bowen syndrome of multiple malformations


name: prolactin deficiency with obesity and enlarged testes


GUCY2D retinopathy

description: Any inherited retinal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene.


spinocerebellar ataxia type 10

description: Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances.


name: reversible cerebral vasoconstriction syndrome

description: Reversible cerebral vasoconstriction syndrome (RCVS) is an infrequent cerebrovascular disorder characterized by severe headaches with or without focal neurological deficits or seizures, and a reversible segmental and multifocal vasoconstriction of cerebral arteries.


osteochondrodysplasia, domestic cat

description: Osteochondrodysplasia that occurs in domestic cat.


name: severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome


name: ciliary dyskinesia with defective radial spokes


Stickler syndrome, type 4

description: Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A1 gene.


alpha-actinopathy

description: A musculoskeletal system disorder that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle α-actin gene (ACTA1). These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, myopathic face, respiratory dysfunction, and rarely cardiac involvement. Specific skeletal muscle structural lesions visible on muscle biopsy include actin accumulations, nemaline and intranuclear bodies, fiber-type disproportion, cores, caps, dystrophic features and zebra bodies. Disorders associated with ACTA1 pathogenic variants can have autosomal dominant (90%) or recessive (10%) inheritance.


name: disorder of development or morphogenesis

description: Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development.


myeloid sarcoma

description: A tumor mass composed of myeloblasts or immature myeloid cells. It occurs in extramedullary sites or the bone. (WHO, 2001)


nonsyndromic congenital nail disorder 8

description: Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the COL7A1 gene.


chromosomal disorder, non-human animal

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


name: arthrogryposis multiplex congenita-whistling face syndrome

description: Arthrogryposis multiplex congenita-whistling face syndrome is an extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence.


name: neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity


alpha thalassemia spectrum

description: An inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles.


immunodeficiency 87 and autoimmunity

description: An autosomal recessive immunologic disorder with wide phenotypic variation and severity. Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus (EBV), as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. Laboratory studies may show low or normal lymphocyte numbers, often with skewed T-cell subset ratios. The disorder results primarily from defects in T-cell function, which causes both immunodeficiency and overall immune dysregulation.


amyloidosis cutis dyschromia

description: Amyloidosis cutis dyschromia is a rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo- and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare.


faucial diphtheria

description: Infection of the fauces by Corynebacterium diphtheriae.


atrophic lichen planus

description: Atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of pale papules or plaques with an atrophic center.


name: early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome


bardet-biedl syndrome 21

description: BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment ({1:Heon et al., 2016}; {2:Khan et al., 2016}).nnFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM:209900).


name: triokinase and FMN cyclase deficiency syndrome


name: heterotopia, periventricular, associated with chromosome 5P anomalies


acute cystitis

description: An acute infection of the bladder. It is usually caused by bacteria. Signs and symptoms include increased frequency of urination, pain or burning during urination, fever, cloudy or bloody urine, and suprapubic pain.


HSD10 disease, infantile type

description: HSD10 disease, infantile type is a clinical subtype of HSD10 disease, a rare neurometabolic disorder. It is characterized by normal early development until 6-18 months of life, followed by progressive neurodegeneration manifesting with developmental regression, progressive visual and hearing troubles, seizures, epilepsy, severe cardiomyopathy, lethargy, hypotonia, poor feeding, choreoathetosis, and movement disorders. Elevated blood levels of isoleucine metabolites and their excretion in urine are reported. The disease is usually fatal around 2-4 years of age.


iatrogenic Kaposi's sarcoma

description: A Kaposi sarcoma that develops after organ transplantation or immunosuppressive treatment.


Brugada syndrome 5

description: Any Brugada syndrome in which the cause of the disease is a mutation in the SCN1B gene.


bacterial conjunctivitis

description: Inflammation of the conjunctiva caused by a variety of bacterial agents.


Nance-Horan syndrome

description: A syndrome characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism.


beta-thalassemia major

description: Beta-thalassemia (BT) major is a severe early-onset form of BT characterized by severe anemia requiring regular red blood cell transfusions.


citrullinemia, type II, adult-onset

description: Adult-onset citrullinemia type II is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. The condition chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. These signs and symptoms can be life-threatening. The signs and symptoms appear during adulthood and are triggered by certain medications, infections, surgery, and alcohol intake.The features of adult-onset type II citrullinemia may also develop in people who as infants had a liver disorder called neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). In many cases, the signs and symptoms of NICCD resolve within a year. Years or even decades later, however, some of these people develop the characteristic features of adult-onset type II citrullinemia.adult-onset citrullinemia type II is caused by mutations in the SLC25A13 gene. This condition is inherited in an autosomal recessive pattern.


name: menstrual cycle-dependent periodic fever


non-hodgkin lymphoma, dog

description: Non-hodgkin lymphoma that occurs in dog.


name: congenital heart defects, multiple types, 6

description: Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the GDF1 gene.


name: craniodigital syndrome-intellectual disability syndrome

description: Craniodigital syndrome - intellectual deficit is characterized by syndactyly of the fingers and toes, characteristic facies (`startled' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit.


AIDS-related disorder

description: A non-neoplastic or neoplastic disorder arising as a result of the immunologic defects caused by Autoimmune deficiency Syndrome.


name: NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance

description: A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, severe intellectual disability and absence of expressive language. Muscular hypotonia, seizures, autistic behavior and stereotypic movements are common.


TUBB3-related tubulinopathy

description: A tubulinopathy syndrome associated with malformations of cortical development, axon guidance defects, white matter abnormalities, and/or congenital fibrosis of the extraocular muscles (CFEOM), due to de novo or dominantly inherited variants with high penetrance. Individuals may present with variable combinations of malformations of cortical development, dysplasia of the basal ganglia, brainstem, and/or cerebellum, CFEOM, additional cranial nerve involvement, Kallmann syndrome, cyclic vomiting, peripheral neuropathy, and/or contractures. Developmental delays, intellectual disability, ocular motor apraxia, and mirror movements are also frequent features.


peroxisome biogenesis disorder 2B

description: An autosomal recessive condition caused by mutation(s) in the PEX5 gene, encoding peroxisomal targeting signal 1 receptor. Peroxisome biogenesis disorder 2B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.


name: autoinflammation with pulmonary and cutaneous vasculitis


synovial chondromatosis, horse

description: Synovial chondromatosis that occurs in horse.


name: acquired idiopathic inflammatory myopathy

description: An umbrella term for diseases which have chronic muscle inflammation and weakness of unknown etiology. The types of idiopathic inflammatory myopathy are further defined by either clinicopathologic criteria or by the presence of certain autoantibodies.


name: spinal muscular atrophy with microcephaly and mental subnormality


name: microcephaly, epilepsy, and diabetes syndrome 1


erythrasma

description: A chronic bacterial infection of major folds of the skin, caused by Corynebacterium minutissimum.


name: microcephaly 18, primary, autosomal dominant


glutaminase deficiency

description: Glutaminase deficiency is characterized by refractory seizures, respiratory failure, brain abnormalities and death in the neonatal period, though milder cases with spastic ataxia-dysarthria have also been reported. This condition is caused by mutations in the glutaminase (GLS) gene.


name: short tarsus-absence of lower eyelashes syndrome

description: Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.


name: complex cortical dysplasia with other brain malformations


description: An autoimmune demyelinating disease of the central nervous system that is produced experimentally in animals by the injection of homogenized brain or spinal cord in Freund's adjuvant. Myelin basic protein appears to be the antigen that elicits the hypersensitivity immune response which is characterized by focal areas of lymphocyte and macrophage infiltration into the brain, associated with demyelination and destruction of the blood-brain barrier. Experimental allergic encephalomyelitis (EAE) is used as an animal model for demyelinating diseases of the human central nervous system such as multiple sclerosis.


name: midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis


osteochondritis dissecans, horse

description: Osteochondritis dissecans that occurs in horse.


name: short stature, oligodontia, dysmorphic facies, and motor delay


name: partial duplication of the long arm of chromosome 19


name: autosomal recessive nonsyndromic hearing loss 38

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 6q26-q27.


name: mixed sclerosing bone dystrophy with extra-skeletal manifestations


persian gulf syndrome

description: Unexplained symptoms reported by veterans of the Persian Gulf War with Iraq in 1991. The symptoms reported include fatigue, skin rash, muscle and joint pain, headaches, loss of memory, shortness of breath, gastrointestinal and respiratory symptoms, and extreme sensitivity to commonly occurring chemicals. (Nature 1994 May 5;369(6475):8)


name: autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency

description: An autosomal recessive disorder characterized by severe anemia and thrombocytopenia apparent from early infancy, hepatosplenomegaly, and recurrent fevers associated with a hyperinflammatory state. Additional systemic features may include chronic diarrhea, proteinuria with renal disease, liver fibrosis with elevated liver enzymes, deforming arthropathy, and vasculitic skin lesions. Some patients may have motor delay or learning difficulties associated with subcortical white matter lesions on brain imaging. Laboratory studies show increased levels of proinflammatory cytokines and increased expression of interferon-stimulated genes (ISGs), consistent with a type I interferonopathy.


extrinsic asthma

description: A chronic asthma that is triggered by an allergen and that is characterized by an immune system overreaction to a harmless substance, such as pollen or dust, with the subsequent release of immunoglobin E (IgE) antibodies.


name: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive


GTP cyclohydrolase I deficiency

description: A disease characterized by a deficiency in GTP cyclohydrolase I, which leads to a consequent reduction in BH4 and reduces the activity of three BH4-cofactor dependent enzymes - phenylalanine hydroxylase, tyrosine hydroxylase, and tryptophan hydroxylase. GTP cyclohydrolase I deficiency encompasses a spectrum of disease that includes autosomal dominant and autosomal recessive forms, with severity correlating with the residual enzyme activity. Individuals who are heterozygous for pathogenic variants in GCH1 have symptoms ranging from none (due to reduced penetrance) to dopa-responsive dystonia, which is the most common presentation in symptomatic cases, to rarer neurological presentations such as adult-onset "benign" parkinsonism, various types of focal dystonia, and symptoms simulating cerebral palsy or spastic paraplegia. Hyperphenylalaninemia is absent, and patients respond well to treatment with levodopa. Individuals who are homozygous or compound heterozygous for pathogenic variants in GCH1 typically present with hyperphenylalaninemia, often identified by newborn screening, and severe neurological features and due to very low or undetectable enzyme activity. Treatment with levodopa, BH4, and 5-hydroxytryptophan can improve the symptoms but does not prevent development of severe encephalopathy. Rare cases of GTP cyclohydrolase I deficiency with a phenotype that is intermediate in severity between dopa-responsive dystonia and the severe autosomal recessive form have also been described, supporting the existence a phenotypic spectrum of disease.


name: combined oxidative phosphorylation deficiency 19

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the LYRM4 gene.


bullous keratopathy

description: Keratopathy that is characterized by the presence of epithelial bullae.


achalasia microcephaly syndrome

description: Achalasia-microcephaly is an extremely rare genetic syndrome, reported in a few families to date, characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case. An autosomal recessive inheritance has been proposed.


actinomycosis

description: Actinomycosis is a chronic bacterial infection that commonly affects the face and neck. It is usually caused by an anaerobic bacteria called Actinomyces israelii. Actinomyces are normal inhabitants of the mouth, gastrointestinal tract, and female genital tract, and do not cause an infection unless there is a break in the skin or mucosa. The infection usually occurs in the face and neck, but can sometimes occur in the chest, abdomen, pelvis, or other areas of the body. The infection is not contagious.


sarcocystosis

description: Infection of the striated muscle of mammals by parasites of the genus sarcocystis. Disease symptoms such as vomiting, diarrhea, muscle weakness, and paralysis are produced by sarcocystin, a toxin produced by the organism.


dystonia 16

description: Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.


omphalocele, domestic cat

description: Omphalocele that occurs in domestic cat.


complex endometrial hyperplasia

description: A hyperplasia characterized by excessive proliferation of endometrial cells, resulting in the formation of complex epithelial structures. Epithelial atypia may be present or absent.


name: hyperpigmentation of Fuldauer and Kuijpers


name: congenital primary megaureter, obstructed form


Parvoviridae infectious disease

description: Virus infections caused by the parvoviridae.


name: diencephalic-mesencephalic junction dysplasia syndrome 2


hyperphalangy

description: Hyperphalangy is a congenital, non-syndromic limb malformation characterized by the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb. Hypherphalangy is almost always bilateral and patients present no more than five digits and no other skeletal anomalies.


rheumatic disorder

description: Inflammatory and degenerative diseases of connective tissue structures, such as arthritis.


name: glycosylphosphatidylinositol biosynthesis defect 16


name: microvillus inclusion disease, non-human animal

description: Microvillus inclusion disease that occurs in non-human animals.


glucocorticoid-induced osteoporosis

description: An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption.


atypical autism

description: Atypical autism is a pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior. '


erythroplakia

description: A clinical term that refers to the presence of a red flat and well defined lesion on the oral mucosa that is not caused by trauma, vascular, or inflammatory processes. It is a precancerous condition and is seen more commonly in middle aged or older males. It is associated with tobacco and alcohol consumption. Microscopic examination reveals severe epithelial dysplasia, carcinoma in situ, or invasive squamous cell carcinoma.


gonococcal prostatitis

description: An prostatitis (disease) caused by infection with Neisseria gonorrhoeae.


FOXG1 syndrome

description: A rare genetic neurological disorder characterized by early onset of microcephaly, severe global developmental delay and cognitive impairment, dyskinesia and hyperkinetic movements, visual impairment, autistic behavior, stereotypies, sleep disturbance, epilepsy, and cerebral malformations (such as corpus callosum hypogenesis, forebrain anomaly, and delayed myelination). Speech is minimal or absent, and ambulation is not attained. Patients with a larger 14q12 microdeletion show a more severe phenotype than those with intragenic alterations, with the addition of facial dysmorphism and agenesis of the corpus callosum.


name: triphalangeal thumb with double phalanges


name: neuroaxonal dystrophy renal tubular acidosis


fibrochondrogenesis 1

description: Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A1 gene.


ectropion, dog

description: Ectropion that occurs in dog.


name: autosomal recessive congenital ichthyosis 8

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


chronic cystitis

description: Recurrent infections of the urinary bladder.


name: coronary arteries congenital malformation


intellectual disability, X-linked 100

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KIF4A gene.


name: autoimmune interstitial lung disease-arthritis syndrome

description: A respiratory disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease.


mosaic trisomy 18

description: Trisomy 18 in which the presence of an extra copy of chromosome 18 is present only in some of the cells of the organism.


autosomal recessive brachyolmia

description: Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur.


name: congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome


Spondylospinal thoracic dysostosis

description: Spondylospinal thoracic dysostosis is an extremely rare skeletal disorder characterized bya short, curved spine and fusion of the spinous processes, short thorax with 'crab-like' configuration of the ribs, underdevelopment of the lungs (pulmonary hypoplasia), severe arthrogryposis and multiple pterygia (webbing of the skin across joints), and underdevelopment of the bones of the mouth.This condition is believed to be inherited in an autosomal recessive manner.It does notappear to be compatible with life.


subglottis cancer

description: A malignant neoplasm that affects the subglottic area of the larynx. The vast majority of cases are squamous cell carcinomas.


mucopolysaccharidosis type 7

description: Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease belonging to the group of mucopolysaccharidoses.


benign endocrine neoplasm

description: A non-metastasizing, functioning or non-functioning neoplasm that arises from an endocrine organ. Representative examples include thyroid gland follicular adenoma and parathyroid gland adenoma.


name: spondyloepimetaphyseal dysplasia with joint laxity

description: A form of skeletal dysplasia characterized by severe dwarfism, generalized articular hypermobility, and progressive spinal malalignment.


RET fusion positive cancer

description: Neoplasm associated with expression of a RET (REarranged during Transfection) fusion. RET fusion-positive tumors have been identified in a broad range of solid tumor types, including multiple endocrine neoplasia 2 (MEN2), papillary thyroid carcinoma (PTC), non-small cell lung cancer (NSCLC), invasive breast cancers, and pancreatic ductal adenocarcinomas in addition to colorectal adenocarcinoma, melanoma, small cell lung cancer, neuroblastoma, and small intestine neuroendocrine tumors.


name: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta


megacolon, non-human animal

description: Megacolon that occurs in non-human animals.


name: severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome


name: neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities


hypotrichosis 5

description: A hypotrichosis that has material basis in a mutation on chromosome 1p21.1-q21.3.


name: familial hemophagocytic lymphohistiocytosis 5

description: Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STXBP2 gene.


name: benign prostatic hyperplasia, non-human animal

description: Benign prostatic hyperplasia that occurs in non-human animals.


name: peroxisome biogenesis disorder due to PEX1 defect

description: Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX1 gene.


cataract-ataxia-deafness syndrome

description: Cataract-ataxia-deafness syndrome is characterized by mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive.


Alzheimer disease 2

description: An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele.


osteochondrosis, sheep

description: Osteochondrosis that occurs in sheep.


childhood pleomorphic rhabdomyosarcoma

description: A rare aggressive rhabdomyosarcoma occurring in children. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells.


retinal degeneration, cattle

description: Retinal degeneration that occurs in cattle.


name: ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome

description: This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence.


retinitis pigmentosa 57

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6G gene.


hyperostosis, non-human animal

description: Hyperostosis that occurs in non-human animals.


von Willebrand disease 2

description: Type 2 von Willebrand disease (type 2 VWD) is a form of VWD characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (von Willebrand factor; VWF).


hemochromatosis type 5

description: Any hereditary hemochromatosis in which the cause of the disease is a mutation in the FTH1 gene.


benign PEComa

description: A tumor with perivascular epithelioid cell differentiation characterized by the absence of pleomorphism and scarcity or absence of mitotic figures.


Guttmacher syndrome

description: Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias.


name: osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome

description: Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome is characterized by severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa. Radiographs show diffuse osteoporosis, severe bone-age delay and dysplasia of the femoral head. It has been described in two patients. Transmission is autosomal dominant variable penetrance.


retroperitoneal lymphoma

description: A lymphoma that involves the retroperitoneal space.


familial hypobetalipoproteinemia 1

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


Senior-Loken syndrome 1

description: Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP1 gene.


name: rolandic epilepsy-speech dyspraxia syndrome

description: A rare, genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed.


name: hereditary hypercarotenemia and vitamin A deficiency

description: Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date.


proboscis lateralis

description: Proboscis lateralis (PL) is a rare congenital facial abnormality characterized by failed development of the external nose on one side that is replaced by a tubular structure composed of skin and soft tissue usually attached at the inner canthus of the eye and therefore often associated with maldevelopment of the nasal cavity or paranasal sinuses of the affected side. PL is also associated with other craniofacial abnormalities such as orbital anomalies, cleft lip/palate, frontal encephalocele and holoprosencephaly.


name: dysraphism-cleft lip/palate-limb reduction defects syndrome


name: X-linked intellectual disability-spastic quadriparesis syndrome


name: pulmonary artery coming from patent ductus arteriosus


dystonia 27

description: Any dystonic disorder in which the cause of the disease is a mutation in the COL6A3 gene.


furuncular myiasis

description: Furuncular myiasis in humans is caused by two species: the Cayor worm (larvae of the African tumbu fly Cordylobia anthropophaga) and the larvae of the human botfly (Dermatobia hominis).


Lenz-Majewski hyperostotic dwarfism

description: Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.


name: multiple mitochondrial dysfunctions syndrome 5


name: retinitis pigmentosa with or without situs inversus

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL2BP gene.


inborn disorder of purine metabolism

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


description: Elevated levels of plasma valine and leucine/isoleucine levels, associated with symptoms of headache and mild memory loss and attributed to biallelic variants in the BCAT2 gene. BCAT2 encodes branched-chain aminotransferase 2 which catalyzes the transamination of the branched chain amino acids to their respective α-keto acids.


deafness-lymphedema-leukemia syndrome

description: Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.


familial renal glucosuria

description: Familial Renal Glucosuria (FRG) is characterized by the presence of persistent isolated glucosuria in the absence of both generalized proximal tubular dysfunction and hyperglycemia. FRG is usually considered a benign entity as most patients are not affected by severe clinical consequences. Polyuria and enuresis and later a mild growth and pubertal maturation delay are the only manifestations that have been reported during a follow-up period of 30 years. Episodic dehydration and ketosis during pregnancy and starvation and an increased incidence of urinary tract infections have occasionally been reported in severe cases. FRG is caused by loss-of-function mutations in the gene SLC5A2 (16p11.2).


platelet-type von Willebrand disease

description: A bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia.


name: microcephalic osteodysplastic primordial dwarfism


Gomez-Lopez-Hernandez syndrome

description: A syndrome, which may be classified among the neurocutaneous syndromes, associates abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). It has been reported in 11 individuals so far. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behavior and bipolar disorder have also been reported.


name: zinc-responsive necrolytic acral erythema


cardiovascular cancer

description: A primary or metastatic malignant neoplasm involving the cardiovascular system.


name: mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency

description: An autosomal recessive condition caused by mutation(s) in the ECHS1 gene, encoding enoyl-CoA hydratase, mitochondrial. The condition represents a clinical spectrum in which there are multiple phenotypes.


amelogenesis imperfecta type 1G

description: An extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure.


name: inborn disorder of serine family metabolism

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


acromegaly, non-human animal

description: Acromegaly that occurs in non-human animals.


name: Bicervical bicornuate uterus and blind hemivagina


Horner syndrome, non-human animal

description: Horner syndrome that occurs in non-human animals.


name: qualitative or quantitative protein defects in neuromuscular diseases


familial hyperaldosteronism

description: Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol.


name: developmental and epileptic encephalopathy 31B


Joubert syndrome 8

description: Any Joubert syndrome in which the cause of the disease is a mutation in the ARL13B gene.


name: melanoma, cutaneous malignant, susceptibility to, 6


tooth agenesis, selective, 7

description: Any tooth agenesis in which the cause of the disease is a mutation in the LRP6 gene.


melorheostosis with osteopoikilosis

description: Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities.


name: peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome


platelet-type bleeding disorder 12

description: An inherited blood coagulation disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity.


name: parietal foramina with cleidocranial dysplasia

description: Parietal foramina with clavicular hypoplasia is a rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported.


trombiculiasis

description: Infestation with mites of the genus Trombiculidae, whose larvae carry the rickettsial agent of scrub typhus.


Nematoda infectious disease

description: Infections caused by nematode larvae which never develop into the adult stage and migrate through various body tissues. They commonly infect the skin, eyes, and viscera in humans. Ancylostoma brasiliensis causes cutaneous larva migrans. Toxocara causes visceral larva migrans.


Joubert syndrome 23

description: Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0586 gene.


epiphyseal dysplasia, multiple, 6

description: Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A1 gene.


familial Dupuytren contracture

description: Familial Dupuyren contracture is a rare, genetic, epidermal disease characterized by a, usually unilateral, progressive thickening and shortening of the palmar fascia, leading to permanent flexion contracture of the digits in several members of a family. It most commonly affects the fourth digit, followed by the fifth and then the third (first and second digits are usually spared).


name: persistent Mullerian duct syndrome, non-human animal

description: Persistent Mullerian duct syndrome that occurs in non-human animals.


spondyloepiphyseal dysplasia congenita

description: A chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.


name: marfanoid habitus-inguinal hernia-advanced bone age syndrome


peeling skin syndrome 1

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


lymphosarcoma, pig

description: Lymphosarcoma that occurs in pig.


name: axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy


Adams-Oliver syndrome 3

description: Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the RBPJ gene.


description: This syndrome is characterized by bilateral congenital blepharoptosis, ectopia lentis and high myopia.


KBG syndrome

description: KBG syndrome is a rare condition characterized by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay.


transaldolase deficiency

description: Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.


name: intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome


pneumonic pasteurellosis

description: Bovine respiratory disease found in animals that have been shipped or exposed to cattle recently transported. The major agent responsible for the disease is mannheimia haemolytica and less commonly, pasteurella multocida or haemophilus somnus. All three agents are normal inhabitants of the bovine nasal pharyngeal mucosa but not the lung. They are considered opportunistic pathogens following stress, physiological and/or a viral infection. The resulting bacterial fibrinous bronchopneumonia is often fatal.


dyskeratosis congenita, X-linked

description: X-linked form of dyskeratosis congenita.