acro-renal-mandibular syndrome

description: Acro-renal-mandibular syndrome is a very rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested.


16q24.1 microdeletion syndrome

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

description: 16q24.1 microdeletion syndrome is a partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects).


Lown-Ganong-Levine syndrome

description: Lown-Ganong-Levine syndrome is an extremely rare conduction disorder characterized by a short PR interval (less than or equal to 120 ms) with normal QRS complex on electrocardiogram associated with the occurrence of episodes of atrial tachyarrythmias (e.g. atrial fibrillation, atrial tachycardia).


name: spastic paraplegia-precocious puberty syndrome

description: Spastic paraplegia-precocious puberty syndrome is characterized by precocious puberty (due to Leydig cell hyperplasia), progressive spastic paraplegia and intellectual deficit. It has been described in two brothers. The fact that other family members displayed brisk reflexes and dysarthria suggested autosomal dominant inheritance with variable expression.


lichen nitidus

description: A chronic inflammatory disease characterized by shiny, flat-topped, usually flesh-colored micropapules no larger than the head of a pin. Lesions are localized in the early stages, found chiefly on the lower abdomen, penis, and inner surface of the thighs. Distribution may become generalized as the disease progresses.


name: amyotrophic lateral sclerosis type 2, juvenile

description: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ALS2 gene.


name: facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome


uterus intravascular leiomyomatosis

description: A rare benign neoplasm characterized by the presence of smooth muscle cells growing within the veins of the uterine corpus. The intravascular neoplasm growth occurs outside the confines of an adjacent leiomyoma.


name: neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum


glomerulonephritis, non-human animal

description: Glomerulonephritis that occurs in non-human animals.


name: classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form

description: The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting.


name: acute anterolateral myocardial infarction

description: Acute form of anterolateral myocardial infarction.


citrullinemia type II

description: Citrullinemia type II is a severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma.


benign neoplasm of lower jaw bone

description: A benign neoplasm that involves the bone of lower jaw.


name: neurodegeneration with brain iron accumulation 5

description: Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood.


schizophrenia 3

description: A schizophrenia that has material basis in an autosomal dominant mutation of SCZD3 on chromosome 6p23.


rhinophyma

description: Progressive enlargement of the nose due to hypertrophy of the sebaceous glands of the tip of the nose and fibrosis. It usually affects older men and is associated with long-standing acne rosacea. It presents as a pink lobulated mass with dilated vessels in the nose.


disorder of pilosebaceous unit

description: A disease that involves the pilosebaceous unit.


necrotizing fasciitis

description: Necrotizing fasciitis is a serious infection of the skin, the tissue just beneath the skin (subcutaneous tissue), and the tissue that covers internal organs (fascia). Necrotizing fasciitis can be caused by several different types of bacteria, and the infection can arise suddenly and spread quickly. Early signs include flu-like symptoms and redness and pain around the infection site. A prompt diagnosis and treatment are essential.If the infection is not treated promptly, it can lead to multiple organ failure and death. Treatment typically includes intravenous (IV) antibiotics and surgery to remove infected and dead tissue.


cone-rod dystrophy 15

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the CDHR1 gene.


isolated microphthalmia 6

description: Any isolated microphthalmia in which the cause of the disease is a mutation in the PRSS56 gene.


Lyme disease

description: Lyme disease (named after the towns in the USA where the disease was first identified) is a bacterial infection caused by Borrelia burgdorferi.


hypereosinophilic syndrome, dog

description: Hypereosinophilic syndrome that occurs in dog.


hypomyelinating leukodystrophy 12

description: Any leukodystrophy in which the cause of the disease is a mutation in the VPS11 gene.


name: ectrodactyly of lower limbs, congenital heart defect, and micrognathia


hemiparkinsonism-hemiatrophy syndrome

description: Hemiparkinsonism-hemiatrophy syndrome is a rare parkinsonian disorder characterized by unilateral body atrophy and slowly progressive, ipsilateral hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantars are frequently associated.


hearing loss with skin disease

description: Nonsyndromic deafness, keratitis-ichthyosis-deafness syndrome, and palmoplantar keratoderma with deafness have all been associated with autosomal dominant variants in GJB2. Reported cases share hearing loss as a feature, therefore it is likely that these phenotypes exist along a spectrum of the same disease, differing in severity of skin phenotypes.


TPM2-related myopathy

description: A congenital myopathy of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle beta-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, amyotrophy, hypotonia, myopathic facies, scoliosis, and sometimes contractures among other phenotypes. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, core-like lesions, fiber-type disproportion, and dystrophic features all observed to some degree.


name: mitochondrial complex V (ATP synthase) deficiency nuclear type 3

description: Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATP5F1E gene.


name: hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome

description: Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells.


name: qualitative or quantitative defects of beta-myosin heavy chain (MYH7)


name: muscular dystrophy-dystroglycanopathy type B6

description: A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12.


name: intellectual developmental disorder with hypertelorism and distinctive facies


tibial hemimelia

description: Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula.


name: isolated focal non-epidermolytic palmoplantar keratoderma


name: hypotonia-failure to thrive-microcephaly syndrome

description: Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.


distal monosomy 7q36

description: Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (incl. genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported.


Kilquist syndrome

description: An autosomal recessive multisystem disorder characterized by neurologic, gastrointestinal, and secretory dysfunction. Affected individuals present at birth with hypotonia, feeding difficulties, mild dysmorphic features, and sensorineural hearing loss. They show poor overall growth associated with gastrointestinal anomalies such as gastroesophageal reflux or midgut malrotation, as well as profound global developmental delay with inability to sit or speak. Tear, sweat, and saliva production is also impaired, causing dry mouth and recurrent bronchial mucus plugging. Some of the clinical features are reminiscent of cystic fibrosis.


name: Bosch-Boonstra-Schaaf optic atrophy syndrome

description: Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific.


name: congenital disorder of glycosylation, type IIz


sensory organ benign neoplasm

description: A benign neoplasm that involves the sense organ.


name: POMGNT2-related limb-girdle muscular dystrophy R24


viral laryngitis

description: Acute inflammation of the larynx caused by viruses, including rhinovirus, influenza virus, parainfluenza virus, and adenovirus.


split hand, domestic cat

description: Split hand that occurs in domestic cat.


Osebold-Remondini syndrome

description: A brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant.


spitzoid melanoma

description: A junctional or compound melanocytic neoplasm not fulfilling the histopathologic criteria of melanoma but with one of the following features: asymmetry, predominance of single melanocytes over nests in lesions 4 mm or larger, ulceration, large dermal sheets of melanocytes, lack of maturation in dermis, deep dermal mitotic figures, extensive involvement of subcutis, and nuclear pleomorphism. (Mod Pathol 2006;19: S21)


streptococcal sore throat

description: Inflammation of the throat due to Streptococcus pyogenes.


name: alpha-N-acetylgalactosaminidase deficiency type 2

description: Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy.


name: polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive

description: A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination.


baroreflex failure

description: Baroreflex failure is a rare disorder that causes fluctuations in blood pressure with episodes of severe hypertension (high blood pressure) and elevated heart rate in response to stress, exercise, and pain. Individuals may also have hypotension (low blood pressure) with normal or reduced heart rate during periods of rest. Symptoms of baroreflex failure may include headache, sweating, and a heart rate that does not respond to medications. The onset of baroreflex failure may be very abrupt or more gradual. In many cases, the cause of baroreflex failure is not known. However, baroreflex failure can result from surgery or radiation treatment for cancers of the neck, injury to the nerves involved in sensing blood pressure, or a degenerative neurologic disease. Treatment usually involves medications to control blood pressure and heart rate along with stress reduction techniques.


diabetic autonomic neuropathy

description: Autonomic neuropathy that is caused by diabetes mellitus.


polyp of vulva

description: A polyp that involves the mammalian vulva.


chordoid meningioma

description: A WHO grade II, usually recurring meningioma characterized by the predominance of tissues that are histologically similar to chordoma.


hyperprolinemia type 1

description: Hyperprolinaemia type I is an inborn error of proline metabolism characterized by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2).


name: frontotemporal dementia with motor neuron disease

description: Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis). The disease is progressive, with death occurring 2-5 years after onset.


synovium neoplasm

description: A benign or malignant soft tissue neoplasm arising exclusively from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath, localized giant cell tumor of tendon sheath, and malignant giant cell tumor of tendon sheath.


auditory system cancer

description: A malignant neoplasm involving the auditory system


name: carbamoyl phosphate synthetase I deficiency disease

description: Carbamoyl-phosphate synthetase 1 deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.


name: congenital myopathy with myasthenic-like onset

description: Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features.


name: Prader-Willi syndrome due to paternal 15q11q13 deletion


name: congenital systemic arteriovenous fistula


name: papillomatosis, confluent and reticulated


retinitis pigmentosa 28

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the FAM161A gene.


orofacial cleft 5

description: Any orofacial cleft in which the cause of the disease is a mutation in the MSX1 gene.


name: autosomal recessive congenital ichthyosis 11


mitochondrial DNA depletion syndrome 13

description: Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the FBXL4 gene.


muscular channelopathy

description: A channelopathy that involves the muscle tissue.


name: urolithiasis, uric acid, autosomal dominant


aniseikonia

description: A condition in which the ocular image of an object as seen by one eye differs in size and shape from that seen by the other.


name: spondyloepimetaphyseal dysplasia, Missouri type

description: A spondyloepimetaphyseal dysplasia characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.


Rothmund-Thomson syndrome type 1

description: Rothmund-Thomson syndrome type 1 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, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2, patients with RTS1 do not appear to have an increased risk of developing cancer.


myopathy, centronuclear, 2

description: Any centronuclear myopathy in which the cause of the disease is a mutation in the BIN1 gene.


name: alacrima, achalasia, and intellectual disability syndrome


diffuse cutaneous mastocytosis

description: Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM) characterized by generalized erythroderma, various degrees of blistering, skin with a ''peau d'orange'' appearance and the accumulation of mast cells in the skin. At least two DCM variants are recognized, one with extreme blistering (Bullous DCM) and one with infiltrations (Pseudoxanthomatous DCM).


name: B-cell childhood acute lymphoblastic leukemia

description: An acute B-lymphoblastic leukemia occurring in children.


lymphoplasmacyte-rich meningioma

description: A WHO grade I meningioma characterized by the presence of prominent chronic inflammatory infiltrates that predominate over the meningioma cells.


adiposis dolorosa

description: Adiposis dolorosa or Dercum's disease is characterized by the development of multiple, painful, subcutaneous lipomas in association with obesity, asthenia and fatigue, and range of mental disturbances including instability, depression, confusion, dementia and epilepsy.


Nijmegen breakage syndrome

description: Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.


sexually transmitted disease

description: A Disease due to or propagated by sexual contact.


description: Any exudative vitreoretinopathy with or without osteoporosis caused by variants in the LRP5 gene.


name: early-onset posterior subcapsular cataract


azoospermia, non-human animal

description: Azoospermia that occurs in non-human animals.


patent ductus arteriosus, horse

description: Patent ductus arteriosus that occurs in horse.


name: autosomal recessive cerebellar ataxia with late-onset spasticity

description: Autosomal recessive cerebellar ataxia with late-onset spasticity is a rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliolis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated.


parastremmatic dwarfism

description: Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.


synovial bursa disorder

description: A disease or disorder that involves the synovial bursa.


juvenile ankylosing spondylitis

description: Ankylosing spondylitis occurring in children or adolescents.


name: microcephaly 29, primary, autosomal recessive


name: recessive dystrophic epidermolysis bullosa inversa

description: Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area.


nephrosis

description: Pathological processes of the KIDNEY without inflammatory or neoplastic components. Nephrosis may be a primary disorder or secondary complication of other diseases. It is characterized by the NEPHROTIC SYNDROME indicating the presence of PROTEINURIA and HYPOALBUMINEMIA with accompanying EDEMA.


Treacher Collins syndrome 3

description: Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1C gene.


name: ovarian cancer, familial, susceptibility to, 3


benign fibrous histiocytoma

description: A benign neoplasm composed of fibroblastic spindle cells in a whorled storiform pattern. It is characterized by the presence of foam cells, inflammatory cells, hemosiderin deposition and stromal hemorrhage.


incontinentia pigmenti, horse

description: Incontinentia pigmenti that occurs in horse.


name: epileptic encephalopathy, infantile or early childhood, 1


TUBB2A-related tubulinopathy

description: A tubulinopathy syndrome often associated with microtubule dysfunction, malformations of the corpus callosum, enlarged ventricles, dysgyria, abnormal basal ganglia, cerebellar vermis hypoplasia/dysplasia, and decreased white matter, due to heterozygous variants in TUBB2A. Individuals may present with variable combinations of malformations of the corpus callosum, enlarged ventricles, dysgyria, abnormal basal ganglia, cerebellar vermis hypoplasia/dysplasia, and decreased white matter. Epilepsy, speech impairment, and motor impairment are also frequent features.


childhood malignant mesenchymoma

description: A malignant mesenchymoma occurring in children.


name: adult type testicular granulosa cell tumor

description: A rare sex cord-stromal tumor that arises from the testis in adults. Gynecomastia is present in approximately a quarter of the patients. Several morphologic patterns have been identified and include insular, gyriform, trabecular, pseudosarcomatous, and solid. Metastases occur in approximately twenty percent of the cases.


ABeta amyloidosis, Arctic type

description: Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages.


non-Zellweger spectrum disorder

description: A peroxisome biogenesis disorder which is due to defect in PEX7 or PEX5. This includes rhizomelic chondrodysplasia punctata due to defect in PEX7 or PEX5, and adult Refsum Disease due to defects in PEX7.


name: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions

description: A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has material basis in mutation in the GRN gene on chromosome 17q21.31.


name: neuromuscular disease and ocular or auditory anomalies with or without seizures


name: combined oxidative phosphorylation deficiency 46


name: food protein-induced enterocolitis syndrome

description: An eosinophilic gastrointestinal disorder triggered by food that is non-IgE-mediated.


name: autosomal recessive intermediate Charcot-Marie-Tooth disease

description: Autosomal recessive form of intermediate Charcot-Marie-Tooth disease.


petrous apex meningioma

description: A meningioma that affects the petrous apex.


name: hereditary hyperferritinemia with congenital cataracts

description: Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.


May-Thurner syndrome

description: A compression of ILIAC VEIN that results in a decreased flow in the vein and in the left LOWER EXTREMITY due to a vascular malformation. It may result in left leg EDEMA, pain, iliofemoral DEEP VENOUS THROMBOSIS and POSTTHROMBOTIC SYNDROME. Compression of the left common ILIAC VEIN by the right common ILIAC ARTERY against the underlying fifth LUMBAR VERTEBRA is the typical underlying malformation.


brachydactyly type B2

description: Brachydactyly type B2 is a rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness.


urolithiasis, Javan langur

description: Urolithiasis that occurs in Javan langur.


name: acute lymphoblastic leukemia congenital sporadic aniridia

description: A disease characterized by acute lymphoblastic leukemia with the presence of congenital sporadic aniridia, the absence of an iris, where neither parent has aniridia.


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

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


name: autoinflammatory syndrome due to TBK1 deficiency

description: Any autoinflammatory syndrome in which the cause of the disease is an autosomal recessive variation in the TBK1 gene.


acquired schizencephaly

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


benign neoplasm of adrenal gland

description: A benign neoplasm that involves the adrenal gland.


name: cleft palate-short stature-vertebral anomalies syndrome

description: Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck, vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993.


factor XII deficiency, dog

description: Factor XII deficiency that occurs in dog.


name: hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation

description: Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation is a mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure.


name: succinic semialdehyde dehydrogenase deficiency, non-human animal

description: Succinic semialdehyde dehydrogenase deficiency that occurs in non-human animals.


myiasis

description: The infection of a fly larva (maggot) in human tissue, which most commonly occurs in tropical climates. Affected tissues most commonly include skin, especially if open wounds are present, nasal passages, ears, and eyes.


name: developmental and epileptic encephalopathy, 81


Ullrich congenital muscular dystrophy

description: Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence.


radial hemimelia

description: Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius.


fasciolopsiasis

description: A small bowel infection that is caused by Fasciolopsis buski, which is endemic in the Far East and Southeast Asia, and which is transmitted via the consumption of raw or undercooked aquatic plants. The spectrum of manifestations range from asymptomatic to intestinal symptoms from local invasion or allergic response.


name: muscular dystrophy, limb-girdle, autosomal recessive 26


name: infantile-onset ascending hereditary spastic paralysis

description: Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria.


name: hypothyroidism due to iodide transport defect

description: A condition associated with reduced active import of iodide across the basolateral membrane of the follicular cells of the thyroid gland. Inactivating mutations in the SLC5A5 gene encoding the sodium-iodide symporter are responsible for the condition.


name: thrombophilia due to protein S deficiency, autosomal dominant

description: Autosomal dominant form of hereditary thrombophilia due to congenital protein S deficiency.


nanophthalmos 4

description: Any nanophthalmia in which the cause of the disease is a mutation in the TMEM98 gene.


name: renal hypoplasia, bilateral, non-human animal

description: Renal hypoplasia, bilateral that occurs in non-human animals.


actinobacillosis

description: A disease characterized by suppurative and granulomatous lesions in the respiratory tract, upper alimentary tract, skin, kidneys, joints, and other tissues. Actinobacillus lignieresii infects cattle and sheep while A. equuli infects horses and pigs.


coccidiosis

description: A parasitic infection caused by Coccidia. It affects livestock, birds and humans. In humans the parasite infests the intestinal tract and may cause watery diarrhea, abdominal pain, fever, nausea and vomiting.


name: autosomal dominant nonsyndromic hearing loss 28

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GRHL2 gene.


orbital pseudotumor

description: A nonspecific tumor-like inflammatory lesion in the orbit of the eye. It is usually composed of mature lymphocytes; plasma cells; macrophages; leukocytes with varying degrees of fibrosis. Orbital pseudotumors are often associated with inflammation of the extraocular muscles (orbital myositis) or inflammation of the lacrimal glands (dacryoadenitis).


Far-East scarlet-like fever

description: A severe inflammatory disease that occurs sporadically and in outbreaks in Russia and Japan, caused by Yersinia pseudotubuclosis infection, an organism that typically causes self-limiting gastroenteritis in Europe.


exudative vitreoretinopathy 5

description: Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the TSPAN12 gene.


name: multiple mitochondrial dysfunctions syndrome 4

description: Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the ISCA2 gene.


tick-borne relapsing fever

description: An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected ticks; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated.


akinetopsia

description: An agnosia that is a loss of motion perception.


mullerian aplasia and hyperandrogenism

description: Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence of underdevelopment of the uterus, and sometimes absence of underdevelopment of the vagina.


name: neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities

description: An autosomal recessive disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. More variable features include hypotonia, early-onset seizures, and a peripheral demyelinating or axonal peripheral sensorimotor neuropathy. The disease follows a neurodegenerative course in many patients; clinical features suggest involvement of both the central and peripheral nervous systems.


urofacial syndrome 2

description: Any Ochoa syndrome in which the cause of the disease is a mutation in the LRIG2 gene.


description: Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963.


achondroplasia, sheep

description: Achondroplasia that occurs in sheep.


HSD10 mitochondrial disease

description: A rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.


chronic endophthalmitis

description: Chronic form of endophthalmitis.


name: muscular dystrophy, Hemizygous lethal type


name: unilateral aplasia of the mullerian ducts


Kienbock disease

description: Kienbock disease is a rare bone disorder of unknown etiology characterized clinically by osteonecrosis of the carpal lunate, eventually leading to collapse of the lunate bone impacting wrist function.


name: chronic relapsing inflammatory optic neuropathy

description: A rare inflammatory optic neuropathy characterized by severe and persistent pain followed by subacute visual loss, a relapsing-remitting course, and steroid-dependence. Involvement of both optic nerves is common and is usually sequential. Serum antibodies against aquaporin 4 are absent in most cases. Magnetic resonance imaging shows contrast enhancement of the acutely inflamed optic nerves.


name: supravalvular aortic stenosis, domestic cat

description: Supravalvular aortic stenosis that occurs in domestic cat.


Rothmund-Thomson syndrome

description: Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers.


acquired testicular failure

description: Testicular failure, the cause of which is not present at birth.


gangliosidosis

description: A group of autosomal recessive lysosomal storage disorders marked by the accumulation of gangliosides. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the lysosomes. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway.


chancroid

description: Chancroid is a bacterial infection that is spread through sexual contact. It is caused by a type of bacteria called Haemophilus ducreyi. Chancroid is characterized by a small bump on the genital which becomes a painful ulcer. Men may have just one ulcer, but women often develop four or more.About half of the people who are infected with a chancroid will develop enlarged inguinal lymph nodes, the nodes located in the fold between the leg and the lower abdomen. In some cases, the nodes will break through the skin and cause draining abscesses. The swollen lymph nodes and abscesses are often called buboes. Chancroid infections can be treated with antibiotics, including azithromycin, ceftriaxone, ciprofloxacin, and erythromycin. Large lymph node swellings need to be drained, either with a needle or local surgery.


name: neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities


conjunctival disorder

description: Any disorder of the conjunctiva.


name: congenital anomalies of kidney and urinary tract 1

description: Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the DSTYK gene.


traumatic myositis ossificans

description: Myositis Ossificans resulting from trauma.


retinitis pigmentosa 75

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the AGBL5 gene.


sweat gland neoplasm

description: A benign or malignant neoplasm arising from the sweat glands.


name: Preaxial polydactyly of toes, unilateral


achondroplasia, non-human animal

description: Achondroplasia that occurs in non-human animals.


name: combined immunodeficiency due to STK4 deficiency

description: A rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency).


acute lichenoid pityriasis

description: A rare skin disorder of unknown etiology that is considered to be a more severe form of pityriasis lichenoides. It is characterized by itchy, burning papular lesions which form open sores with red-brown crusts. Low grade fever, headache, malaise, and arthralgias may occasionally precede or accompany the skin findings.


description: X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported.


name: pidermolysis bullosa simplex 5A, Ogna type

description: A basal subtype of epidermolysis bullosa simplex (EBS) characterized by sometimes widespread, primarily acral blistering.


multiple endocrine neoplasia type 4

description: Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN, an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors.


cataract-glaucoma syndrome

description: Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years.


name: infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

description: Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life.


name: neuronopathy, distal hereditary motor, autosomal recessive 3

description: A rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction.


prostate disorder

description: A disease involving the prostate gland.


name: intellectual developmental disorder with autism and dysmorphic facies


name: macrocephaly, intellectual disability, short stature, spastic paraplegia and cns malformations


chondromalacia

description: Pathological processes involving the chondral tissue (cartilage).


mixed phenotype acute leukemia

description: An acute leukemia of ambiguous lineage. It is characterized by the presence of either separate populations of blasts of more than one lineage, or one population of blasts co-expressing markers of more than one lineage.


NEK9-related lethal skeletal dysplasia

description: NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.


Brugada syndrome 4

description: Any Brugada syndrome in which the cause of the disease is a mutation in the CACNB2 gene.


name: polycystic kidney disease 6 with or without polycystic liver disease

description: Any polycystic kidney disease in which the cause of the disease is a mutation in the DNAJB11 gene.


name: neuronopathy, distal hereditary motor, type 7A

description: Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the SLC5A7 gene.


name: preaxial digit brachydactyly-webbed fingers


name: combined oxidative phosphorylation deficiency 51


cassavism

description: A poisoning that is caused by exposure to fruit of the Cassava plant (Manihot esculenta), contains linamarin, a cyanogenic glucoside. If a person eats improperly prepared products, cassavism (locally termed konzo or mantakassa) may develop, which features toxic ataxic neuropathy.


name: factor V and factor VIII, combined deficiency of, type 1

description: Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the LMAN1 gene.


acute undifferentiated leukemia

description: A rare acute leukemia of ambiguous lineage in which the blasts do not express markers specific to myeloid or lymphoid lineage.


name: progressive familial heart block type IB

description: Any progressive familial heart block in which the cause of the disease is a mutation in the TRPM4 gene.


name: polycystic kidney disease, crab-eating macaque

description: Polycystic kidney disease that occurs in crab-eating macaque.


congenital vascular malformation

description: A congenital abnormality of the arteries and veins, lymph vessels or veins and lymph vessels.


neonatal Marfan syndrome

description: Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occurring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.


ringed hair disease

description: Pili annulati is an isolated, benign hair shaft abnormality, usually presenting after the age of 2 and affecting the hair of the scalp or very rarely beard, axillary, or pubic hair, that is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases.


name: chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome


inborn aminoacylase deficiency

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


name: generalized epilepsy with febrile seizures plus, type 12


paratesticular lipoma

description: A rare benign adipose tissue neoplasm of the paratesticular tissues. It is incidentally discovered and presents as a non-tender scrotal mass. It affects patients over a wide age range.


Weill-Marchesani syndrome 3

description: Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the LTBP2 gene.


loricrin keratoderma

description: A diffuse palmoplantar keratoderma, characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission.


nephronophthisis 4

description: Any nephronophthisis in which the cause of the disease is a mutation in the NPHP4 gene.


name: neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities


primary ciliary dyskinesia 32

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH3 gene.


Olmsted syndrome

description: A hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.


name: 46,XX ovarian dysgenesis-short stature syndrome


prekallikrein deficiency

description: A condition characterized by the congenital or acquired deficiency of prekallikrein. This deficiency is usually not associated with bleeding. The congenital deficiency is very rare. Acquired deficiency may occur in diffuse intravascular coagulation, infections, and sickle cell disease.


periodic fever syndrome, dog

description: Periodic fever syndrome that occurs in dog.


Toriello-Lacassie-Droste syndrome

description: Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital.


acquired primary ovarian failure

description: An instance of primary ovarian failure that is acquired during the lifetime of the individual.


Thiemann disease, familial form

description: Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course.


name: generalized epilepsy with febrile seizures plus, type 9

description: Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the STX1B gene.


name: acute myeloid leukemia, t(6;11)(q27;q23)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(6;11)(q27;q23). (A cytogenetic abnormality that refers to the translocation of the long arm (q27) of chromosome 6 and the long arm (q23) of chromosome 11. It is associated with the development of de novo acute myeloid leukemia.)


chronic asthma

description: An asthma that is characterized by the development of persistent airway inflammation and recurrent attacks of breathlessness and wheezing, which vary in severity and frequency.


name: Ehlers-Danlos syndrome, periodontitis type

description: Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.


myotubular myopathy 1, dog

description: Myotubular myopathy 1 that occurs in dog.


hyperplasia

description: An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement.


autosomal dominant primary microcephaly

description: Autosomal dominant form of microcephaly (disease).


brachial plexus neoplasm

description: A neoplasm (disease) that involves the brachial nerve plexus.


Joubert syndrome 26

description: Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0556 gene.


name: neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures


aortic aneurysm, familial thoracic 10

description: Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the LOX gene.


nephrotic syndrome, type 3

description: Any nephrotic syndrome in which the cause of the disease is a mutation in the PLCE1 gene.


name: combined oxidative phosphorylation defect type 26

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT5 gene.


osteopetrosis, horse

description: Osteopetrosis that occurs in horse.


ring chromosome 9

description: Ring chromosome 9 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies.


name: neurodevelopmental disorder with severe motor impairment and absent language


name: metaphyseal dysplasia, anetoderma, and optic atrophy


name: fibromatosis, gingival, with hypertrichosis and intellectual disability


primary adult heart tumor

description: Adult heart tumor refers to neoplasms of the heart that manifest in adults and generally present with a variety of non-specific manifestations (depending on tumor site and infiltration) such as weight loss, exhaustion, hemorrhagic pericardial effusion, heart failure, arrhythmias, and embolisms, or that can also be asymptomatic. In adults 75% of heart tumors are benign, with myxoma being the most common benign tumor (accounting for 50-70% of all primary heart tumors) and rhabdomyosarcoma comprising 75% of malignant heart tumors. Other malignant tumors of the heart include fibrosarcoma and leiomyosarcoma (see these terms).


spongiotic dermatitis

description: A chronic inflammatory skin condition characterized by itchiness and a rash in the chest and abdominal areas. It affects males more than females and is usually contracted at a relatively young age. It is thought to be caused by an allergic reaction to food, insect bites, or medication.


name: intellectual developmental disorder, autosomal dominant 69


name: microphthalmia, isolated, with coloboma 3

description: Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the VSX2 gene.


name: Pelger-Huet-like anomaly and episodic fever with abdominal pain

description: An autoinflammatory disease with defective neutrophil function caused by a homozygous Arg219His mutation in the transcription factor C/EBPε.


myoclonic dystonia 11

description: Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the SGCE gene.


name: renal tubulopathy-encephalopathy-liver failure syndrome

description: Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in Gracile syndrome and that can be associated with encephalopathy and psychiatric disorders.


viral respiratory tract infection

description: A respiratory tract infection caused by a virus. Viruses represent the most common causes of upper and lower respiratory tract infections and include rhinoviruses, influenza viruses, parainfluenza viruses, and respiratory syncytial virus.


benign eccrine neoplasm

description: A non-metastasizing eccrine appendage sweat gland neoplasm. Representative examples include hidrocystoma, syringoma, and syringofibroadenoma.


narcolepsy-cataplexy syndrome

description: A type of narcolepsy characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions).


pemphigus, cattle

description: Pemphigus that occurs in cattle.


sensory ganglionopathy

description: A disease or disorder that involves the sensory ganglion.


dyshidrosis

description: A recurrent eczematous reaction characterized by the development of vesicular eruptions on the palms and soles, particularly along the sides and between the digits. It is accompanied by pruritus, a burning sensation, and hyperhidrosis. The disease is self-limiting, lasting only a few weeks. (Dorland, 27th ed)


optic nerve disorder

description: A non-neoplastic or neoplastic disorder affecting the optic nerve (second cranial nerve).


disorder of optic chiasm

description: A disease that involves the optic chiasma.


acrorenal syndrome

description: Acrorenal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected.


name: hypotonia, seizures, and precocious puberty


name: respiratory system disorder, non-human animal

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


name: atrichia with papular lesions, non-human animal

description: Atrichia with papular lesions that occurs in non-human animals.


name: congenital dyserythropoietic anemia type type 1B


name: amyotrophic lateral sclerosis with polyglucosan bodies


name: medulloblastoma with extensive nodularity

description: Medulloblastoma with extensive nodularity (MBEN) is a histological variant of medulloblastoma, an embryonic malignancy, most often located in the inferior medullary velum and then growing into the fourth ventricle, and presenting in infants and young children with symptoms of increased intracranial pressure such as headache, listlessness, vomiting, diplopia and papilledema. It is often associated with Gorlin syndrome and has a relatively good prognosis.


name: factor VIII and Factor IX, combined deficiency of


RAD51C-related cancer predisposition

description: Hereditary cancer predisposition due to variation(s) in the RAD51C gene. Pathogenic germline variation in RAD51C confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including ovarian cancer, triple negative breast cancer and ER negative breast cancer.


name: neurodevelopmental disorder with progressive movement abnormalities


name: Charcot-Marie-Tooth disease, axonal, IIa 2II


Bruck syndrome 1

description: Any Bruck syndrome in which the cause of the disease is a mutation in the FKBP10 gene.


name: combined immunodeficiency due to RELA haploinsufficiency


glucocorticoid deficiency 1

description: Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MC2R gene.


name: proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome

description: Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome is characterized by onset of proximal tubulopathy in the first year of life, followed by progressive development during childhood of skin anomalies (erythrocyanosis and abnormal pigmentation), blindness, osteoporosis, cerebellar ataxia, mitochondrial myopathy, deafness and diabetes mellitus.


retinitis pigmentosa 41

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the PROM1 gene.


name: developmental and epileptic encephalopathy, 13

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN8A gene.


name: indifference to pain, congenital, autosomal dominant


neuroblastoma, susceptibility to, 3

description: Any neuroblastoma in which the cause of the disease is a mutation in the ALK gene.


hot water reflex epilepsy

description: Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases.


pemphigus erythematosus

description: Pemphigus erythematosus is a rare superficial pemphigus disease characterized clinically by well-demarcated, localized, erythematous, scaly, hyperkeratotic, crusted plaques, with frequent butterfly distribution over the malar area of the face (but also commonly involving trunk and scalp, and less frequently the extremities, with a photoexposed distribution). Histologically, granular deposits along the dermal-epidermal junction, in addition to intercellular deposition in the upper epidermis, are observed.


name: autosomal dominant optic atrophy plus syndrome

description: Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a variant of autosomal dominant optic atrophy (ADOA) associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness.


name: agenesis of the corpus callosum with peripheral neuropathy

description: Corpus callosum agenesis-neuropathy is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and "autistic-like" features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait.


oesophagostomiasis

description: Infection of the intestinal tract with worms of the genus oesophagostomum. This condition occurs mainly in animals other than humans.


congenital adrenal hyperplasia, rabbit

description: Congenital adrenal hyperplasia that occurs in rabbit.


fetal cytomegalovirus syndrome

description: An infection with the Cytomegalovirus that is present from birth.


retinohepatoendocrinologic syndrome

description: Retinohepatoendocrinologic syndrome is characterized by total colorblindness caused by progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction (hypothyroidism, diabetes, repeated abortions or infertility). It has been described in six females from two sibships with a high degree of consanguinity, and in a male from another family.


name: X-linked intellectual disability with marfanoid habitus

description: The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.


description: Hemophagocytic lymphohistiocytosis due to infections, autoimmune disorders, or underlying malignancies. Signs and symptoms include fever, lymphadenopathy, hepatomegaly, splenomegaly, and pancytopenia.


name: eccrine syringofibroadenomatosis with eyelid abnormalities


name: congenital disorder of deglycosylation 2


proximal-type epithelioid sarcoma

description: An epithelioid sarcoma predominantly involving the pelvis, perineum, and genital organs. It tends to have a more aggressive clinical course as compared to the more frequently seen distal-type epithelioid sarcoma.


name: macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin


name: myeloid/lymphoid neoplasm associated with JAK2 rearrangement

description: Hematologic neoplasms characterized by the presence of t(8;9)(p22;p24.1) that results in PCM1-JAK2 fusion gene expression. It is associated with eosinophilia, bone marrow findings of left-shifted erythroid predominance, lymphoid aggregates, and often myelofibrosis. Rare cases present as T- or B-acute lymphoblastic leukemia.


acute closed-angle glaucoma

description: Acute form of angle-closure glaucoma.


hereditary spastic paraplegia 51

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4E1 gene.


cataract 22 multiple types

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB3 gene.


bipartite talus

description: Bipartite talus is a rare, genetic bone disorder characterized by the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling.


frontal lobe epilepsy

description: A localization-related (focal) form of epilepsy characterized by seizures which arise in the frontal lobe. A variety of clinical syndromes exist depending on the exact location of the seizure focus. Frontal lobe seizures may be idiopathic (cryptogenic) or caused by an identifiable disease process such as traumatic injuries, neoplasms, or other macroscopic or microscopic lesions of the frontal lobes (symptomatic frontal lobe seizures). (From Adams et al., Principles of Neurology, 6th ed, pp318-9)


name: gnb5-related intellectual disability-cardiac arrhythmia syndrome

description: An autosomal recessive condition caused by mutation(s) in the GNB5 gene, encoding guanine nucleotide-binding protein subunit beta-5. It is characterized by severe intellectual disability, poor speech acquisition, and cardiac arrhythmia. Biallelic missense mutation in the GNB5 gene can cause language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia, which is a less-severe disorder with overlapping features.


name: developmental and epileptic encephalopathy, 4

description: Early infantile epileptic encephalopathy 4 (EIEE4) is a form of early infantile epileptic encephalopathy, which refers to a group of neurological conditions characterized by severe seizures beginning in infancy. EIEE4, specifically, is often associated with partial complex or tonic-clonic seizures, although other seizure types have been reported. Other signs and symptoms mayinclude intellectual disability, reduced muscle tone (hypotonia), hypsarrhythmia (an irregular pattern seen on EEG), dyskinesia (involuntary movement of the body), and spastic di- or quadriplegia. EIEE4 is caused by changes (mutations) in the STXBP1 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. For example, certain medications are often prescribed to help control seizures, although they are not always effective in all people with the condition.


name: acromegaloid changes, cutis verticis gyrata, and corneal leukoma


name: neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies


potassium deficiency

description: A condition due to decreased dietary intake of potassium, as in starvation or failure to administer in intravenous solutions, or to gastrointestinal loss in diarrhea, chronic laxative abuse, vomiting, gastric suction, or bowel diversion. Severe potassium deficiency may produce muscular weakness and lead to paralysis and respiratory failure. Muscular malfunction may result in hypoventilation, paralytic ileus, hypotension, muscle twitches, tetany, and rhabomyolysis. Nephropathy from potassium deficit impairs the concentrating mechanism, producing polyuria and decreased maximal urinary concentrating ability with secondary polydipsia. (Merck Manual, 16th ed)


benign chondrogenic neoplasm

description: A non-metastasizing cartilaginous matrix-producing neoplasm characterized by the presence of neoplastic chondrocytes. Representative examples include osteochondroma and chondroma.


name: limbic encephalitis with LGI1 antibodies

description: Limbic encephalitis with LGI1 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive decline, psychiatric disturbances and seizures (distinctively faciobrachial dystonic seizures) in association with detection of LGI1 antibodies in serum or cerebrospinal fluid. Patients may present with confusion, hallucinations, vocalization, paranoia, tangentiality, aggressive outbursts and/or spatial disorientation, as well as obstinate hyponatremia. It is most often non-paraneoplastic, however comorbid tumors, such as small cell lung cancer and thymoma, have been reported.


prostate cancer, non-human animal

description: Prostate cancer that occurs in non-human animals.


bowenoid papulosis

description: Dysplastic papular lesions presenting on the genitalia of either sex. The lesions are associated with human papillomavirus infection. The majority of cases have a benign clinical course, although, a small number of cases with malignant transformation have been reported.


name: autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation


name: facial dysmorphism, selective tooth agenesis, and choroid calcification


name: brachydactyly small stature face anomalies


name: epidermolysis bullosa simplex 5B, with muscular dystrophy

description: A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy.


name: autosomal dominant popliteal pterygium syndrome

description: Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.


RNU7-1-related type 1 interferonopathy

description: Any type 1 interferonopathies in which the cause of the disease is a variation in the RNU7-1 gene. Individuals with variants in RNUF7-1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.


Ritscher-Schinzel syndrome 2

description: Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the CCDC22 gene.


name: encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1


name: asthma, nasal polyps, and aspirin intolerance


feline panleukopenia

description: A highly contagious dna virus infection of the cat family, characterized by fever, enteritis and bone marrow changes. It is also called feline ataxia, feline agranulocytosis, feline infectious enteritis, cat fever, cat plague, and show fever. It is caused by feline panleukopenia virus or the closely related mink enteritis virus or canine parvovirus.


name: persistent truncus arteriosus, non-human animal

description: Persistent truncus arteriosus that occurs in non-human animals.


diffuse scleroderma

description: A variant of systemic scleroderma characterized by sclerosis of the skin, Raynaud phenomenon, and organ involvement, including pulmonary fibrosis, renal disease, and gastrointestinal tract involvement.


sialidosis type 2

description: A rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations.


name: nasopharyngeal carcinoma, susceptibility to, 2


choroid neoplasm

description: A neoplasm (disease) that involves the optic choroid.


benign neoplasm of brain stem

description: A benign neoplasm that involves the brainstem.


name: mesomelic dwarfism, Reinhardt-Pfeiffer type

description: Mesomelic dwarfism, Reinhardt-Pfeiffer type is characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula.


transient arthropathy

description: Arthropathy that is not permanent.


description: Arterial dissection-lentiginosis is a rare association syndrome, reported in several members of two families to date, and characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (ex. headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities).


Kimura disease

description: Kimura disease is a benign and chronic inflammatory disorder of unknown etiology, occurring mainly in Asian countries (very rarely in Western countries) and predominantly affecting young men, that usually presents with a solitary or multiple non-tender subcutaneous masses in the head and neck region (in particular the preauricular and submandibular area) and/or generalized painless lymphadenopathy, often with salivary gland involvement. Characteristic laboratory findings include blood eosinophilia and markedly elevated serum immunoglobulin E (IgE) levels. It is often associated with autoinflammatory disorders (i.e. ulcerative colitis, bronchial asthma) and a co-existing renal disease.


name: peroxisome biogenesis disorder, complementation group 3


name: spondyloepiphyseal dysplasia tarda, X-linked

description: X-linked spondyloepiphyseal dysplasia tarda is an inherited skeletal disorder that affects males only. Physical characteristics include moderate short-stature (dwarfism); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck;disproportionatelylong arms,and premature osteoarthritis, especially in the hip joints. Final male adult height ranges from 4 feet 10 inches to 5 feet 6 inches. Other skeletal features of this condition include decreased mobility of the elbow and hip joints, arthritis, and abnormalities of the hip joint which causes the upper leg bones to turn inward. This condition is caused by mutations in the TRAPPC2 gene and is inherited in an X-linked recessive pattern.


Charcot-Marie-Tooth disease type 4B1

description: Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus).


description: A perceptual disorder caused by intoxication with hallucinogen drugs, especially LSD. It is characterized by the recurrence of perceptive disturbances that first develop during intoxication. The contents of the perception and visual imagery range extensively and symptoms may include visual disturbances, hallucinations, and psychoses.


platelet-type bleeding disorder 17

description: An autosomal dominant condition caused by mutation(s) in the GFI1B gene, encoding zinc finger protein Gfi-1b. It is characterized by a tendency for increased bleeding due to abnormal platelet function.


name: mitochondrial complex 1 deficiency, nuclear type 7


name: hyperinsulinemic hypoglycemia with polycystic kidney disease

description: Any hyperinsulinemic hypoglycemia which is accompanied by cystic structures in the kidneys, and in which the cause of the disease is a variation in the PMM2 promoter.


benign metanephric tumor

description: A benign neoplasm that involves the metanephros.


testis refractory cancer

description: Malignant testicular germ cell tumor that is resistant to treatment.


hypertrichosis, non-human animal

description: Hypertrichosis that occurs in non-human animals.


name: osteopetrosis with gingival hamartomas, cattle

description: Osteopetrosis with gingival hamartomas that occurs in cattle.


name: microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome


name: ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies


name: combined deficiency of factor VII and factor X


Miyoshi myopathy

description: A distal myopathy, characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes.


name: retinal dystrophy in systemic or cerebroretinal lipidoses


name: hearing loss-familial salivary gland insensitivity to aldosterone syndrome

description: Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterized by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive.


Brill-Zinsser disease

description: A delayed relapse of epidemic typhus, caused by Rickettsia prowazekii.


inherited Creutzfeldt-Jakob disease

description: Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia.


name: congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome


name: infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

description: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination.


HBA2-related alpha thalassemia spectrum

description: Mild microcytic anemia caused by biallelic variation in the HBA2 gene.


name: developmental delay, hypotonia, and impaired language


giant papillary conjunctivitis

description: Conjunctivitis that is associated with contact lens wear, and which is characterized by giant papillae in the tarsal conjunctiva.


name: ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin


chronic cervicitis

description: Chronic inflammation of the cervix.


hepatic encephalopathy, sheep

description: Hepatic encephalopathy that occurs in sheep.


mesomelic dysplasia

description: A form of skeletal dysplasia characterized by shortening of the bones of the middle segments of the limbs (i.e., the radii, ulnae, tibiae and fibulae).


limbic encephalitis

description: A group of autoimmune conditions characterized by inflammation of the limbic system and other parts of the brain.The cardinal sign of limbic encephalitis is a severe impairment of short-term memory; however,symptoms may also include confusion, psychiatric symptoms, and seizures.The symptomstypically develop over a few weeks or months, but they may evolve over a few days. Limbic encephalitis is often associated with an underlying neoplasm (paraneoplastic limbic encephalitis); however some cases never have a neoplasm identified (non-paraneoplastic limbic encephalitis). Delayed diagnosis is common, but improvements are being made to assist in early detection. Various tests including imaging studies (MRI, PET) laboratory tests (CSF analysis), and tests that measure the electrical activity of the brain (EEG) may be utilized to confirm a diagnosis. Treatment includes removal of the neoplasm (if identified) and immunotherapy.


juvenile temporal arteritis

description: Juvenile temporal arteritis is a rare form of vasculitis, a group of conditions that cause inflammation of the blood vessels. Unlike the classic form of temporal arteritis, this condition is generally diagnosed in late childhood or early adulthood and only affects the temporal arteries (located at the lower sides of the skull, directly underneath the temple). Affected people often have no signs or symptoms aside from a painless nodule or lump in the temporal region. The exact underlying cause of the condition is unknown. It generally occurs sporadically in people with no family history of the condition. Juvenile temporal arteritis is often treated with surgical excision and rarely recurs.


name: mitochondrial myopathy-lactic acidosis-deafness syndrome

description: Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.


cataract 24

description: A cataract that has material basis in variation in the region 17p13.


pediatric osteosarcoma

description: An osteosarcoma occurring in childhood.


cataract 17 multiple types

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB1 gene.


cancer affecting bone of limb skeleton

description: A cancer that involves the limb bone.


name: focal segmental glomerulosclerosis and neurodevelopmental syndrome

description: A Mendelian diseases characterized by global developmental delay and renal dysfunction manifest as proteinuria and nephrotic syndrome apparent from infancy or early childhood. Some patients present with renal disease, whereas others present with developmental delay and develop renal disease later in childhood. Renal biopsy shows focal segmental glomerulosclerosis (FSGS), but the course of the disease is variable: some patients have transient proteinuria and others require renal transplant. Neurodevelopmental features are also variable, with some patients having only mildly impaired intellectual development, and others having a severe developmental disorder associated with early-onset refractory seizures or epileptic encephalopathy. Additional features, including feeding difficulties, poor overall growth, and nonspecific dysmorphic facial features, are commonly observed.


acute cor pulmonale

description: A form of acute right heart failure produced by a sudden increase in resistance to blood flow in the pulmonary circulation.


name: short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay


ciliary body neoplasm

description: A neoplasm (disease) that involves the ciliary body.


chromosome 5p13 duplication syndrome

description: 5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).


name: partial deletion of the short arm of chromosome 10


Leri pleonosteosis

description: Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner.


name: dyskeratosis congenita, autosomal dominant 6

description: A dyskeratosis congenita that has material basis in an autosomal dominant mutation of ACD on chromosome 16q22.1.


name: mixed epithelial stromal tumor of the kidney

description: A rare, usually benign neoplasm that arises from the kidney. It usually affects females. It is characterized by the presence of a biphasic pattern with tubular and cystic structures in a spindle cell stroma. Patients usually present with flank pain and hematuria.


name: dyskinesia with orofacial involvement, autosomal recessive


name: autosomal dominant progressive external ophthalmoplegia

description: Autosomal dominant form of progressive external ophthalmoplegia.


hair nevus

description: A usually benign congenital skin growth that is often pigmented and sometimes develop coarse surface hair. There is a lifetime risk of transformation to malignant melanoma which varies depending on the size of the lesion.


name: autosomal recessive nonsyndromic hearing loss 31

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


Venezuelan equine encephalitis

description: A condition caused by infection by the Venezuelan equine encephalitis virus, which is characterized by headache, fever, myalgia, nausea, and vomiting.


pontocerebellar hypoplasia type 5

description: Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5.


persistent truncus arteriosus, pig

description: Persistent truncus arteriosus that occurs in pig.


name: benign infantile seizures associated with mild gastroenteritis

description: Benign infantile seizures associated with mild gastroenteritis is a rare infantile epilepsy syndrome characterized by benign afebrile seizures in previously healthy infants and children (age range 1 month to 6 years) with mild acute gastroenteritis without any central nervous system infection, severe dehydration, or electrolyte imbalances. In most cases the seizures are tonic-clonic with focal origin on EEG, occur between day 1 and 6 following onset of acute gastroenteritis, cease within 24 hours and do not persist after the illness.


progressive myoclonic epilepsy type 8

description: Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the CERS1 gene.


spinocerebellar ataxia type 15/16

description: Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia, tremor and cognitive impairment.


central core myopathy, dog

description: Central core myopathy that occurs in dog.


name: double uterus-hemivagina-renal agenesis syndrome

description: Double uterus, hemivagina and renal agenesis is a rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present.


name: immunodeficiency due to a late component of complement deficiency

description: A genetic deficiency of any membrane attack complex (MAC, also known as terminal component complex (TCC)) component of the complement system (C5, C6, C7, C8, C9). Deficiencies of the terminal complement pathway results in a predisposition to infections, such as invasive meningococcal disease or disseminated gonococcal infection.


name: Kallmann syndrome with spastic paraplegia


name: spondylometaphyseal dysplasia, East African type


name: neuronopathy, distal hereditary motor, autosomal dominant 8

description: Autosomal dominant congenital benign spinal muscular atrophy is a rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfunction are usually also associated.


enzootic pneumonia of calves

description: Chronic endemic respiratory disease of dairy calves and an important component of bovine respiratory disease complex. It primarily affects calves up to six months of age and the etiology is multifactorial. Stress plus a primary viral infection is followed by a secondary bacterial infection. The latter is most commonly associated with pasteurella multocida producing a purulent bronchopneumonia. Sometimes present are mannheimia haemolytica; haemophilus somnus and mycoplasma species.


name: optic atrophy 13 with retinal and foveal abnormalities


name: diffuse idiopathic skeletal hyperostosis

description: This syndrome is characterized by the association of ankylosing vertebral hyperostosis with hyperkeratosis of the soles and palms.


Wiedemann-Steiner syndrome

description: Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability. This condition is caused by changes (mutations) in the KMT2A gene (also known as the MLL gene). It is inherited in an autosomal dominant manner. Most cases result from new (de novo) mutations that occur only in an egg or sperm cell, or just after conception. Treatment is symptomatic and supportive and may include special education classes and speech and occupational therapies aimed at increasing motor functioning and language.


AL amyloidosis, non-human animal

description: AL amyloidosis that occurs in non-human animals.


ATM-related cancer predisposition

description: Hereditary cancer predisposition due to variation(s) in the ATM gene. Pathogenic germline variation in ATM confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including breast cancer, ovarian cancer, pancreatic cancer, and prostate cancer.


plasma cell leukemia

description: An aggressive plasma cell neoplasm characterized by the presence of neoplastic plasma cells in the peripheral blood. It is characterized by the presence of a circulating clonal plasma cell count that exceeds 2x10^9/L or is 20% of the leukocyte differential count.


name: congenital pulmonary airway malformation type 2


autoimmune encephalitis

description: Inflammation of the brain secondary to an immune response triggered by the body itself.


name: optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy


name: acromesomelic dysplasia 1, Maroteaux type

description: A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type.


vulvar dystrophy

description: A non-neoplastic lesion that affects the vulva and is characterized by thinning or thickening of the skin and dryness.


name: atypical hemolytic-uremic syndrome with DGKE deficiency


name: syndromic multisystem autoimmune disease due to ITCH deficiency


name: intellectual disability, autosomal dominant 4

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the KIRREL3 gene.


name: alanine glyoxylate aminotransferase deficiency

description: Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGXT gene.


description: X-linked parkinsonism-spasticity syndrome is a rare genetic neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign.


name: pyruvate dehydrogenase E1-beta deficiency

description: Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by severe lactic acidosis, developmental delay and hypotonia.


name: intellectual disability, autosomal recessive 7

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TUSC3 gene.


Charcot-Marie-Tooth disease type 4A

description: Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe, rapidly progressing demyelinating, axonal, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities.


gangliosidosis, dog

description: Gangliosidosis that occurs in dog.


congenital myasthenic syndrome 4B

description: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.


brain stem medulloblastoma

description: A medulloblastoma that involves the brainstem.


viral sexually transmitted disease

description: Viral diseases which are potentially transmitted or propagated by sexual conduct.


name: distal myopathy with anterior tibial onset


erythema palmare hereditarium

description: A rare, benign, congenital genetic skin disorder characterized by permanent and asymptomatic erythema of the palmar and, less frequently, the solar surfaces. In most cases, it presents with sharply demarcated redness of the thenar and hypothenar eminences, as well as the palmar aspect of the phalanges, with scattered telangiectasia spots that do not cause any discomfort (pain, itching or burning) to the patient.


MMEP syndrome

description: A congenital syndromic form of split-hand/foot malformation (SHFM). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies.


familial temporal lobe epilepsy 6

description: A temporal lobe epilepsy that has material basis in variation in the chromosome region 3q25-q26.


name: brachydactyly absence of distal phalanges


name: bilirubin induced brain injury in the newborn


autosomal dominant myoglobinuria

description: Autosomal dominant myoglobinuria is a rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997.


early myoclonic encephalopathy

description: Early myoclonic encephalopathy (EME) is characterized clinically by the onset of fragmentary myoclonus appearing in the first month of life, often associated with erratic focal seizures and a suppression-burst EEG pattern.


spina bifida, rabbit

description: Spina bifida that occurs in rabbit.


name: chromosome 16p12.2-p11.2 deletion syndrome

description: 16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.


name: autosomal recessive spinocerebellar ataxia 20

description: Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the SNX14 gene.


atrial fibrillation, familial, 10

description: Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN5A gene.


name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12

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


Acropectorovertebral dysplasia

description: A skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones).


Pectobacterium carotovorum infection

description: A bacterial infection induced by Pectobacterium carotovorum which is is a bacterium of the family Enterobacteriaceae. This bacterius is a ubiquitous plant pathogen with a wide host range (carrot, potato, tomato, leafy greens, squash and other cucurbits, onion, green peppers, African violets etc.), able to cause disease in almost any plant tissue it invades. It is a very economically important pathogen in terms of postharvest losses, and a common cause of decay in stored fruits and vegetables. Decay caused by E. carotovora is often simply referred to as "bacterial soft rot" (BSR) though this may also be caused by other bacteria. Most plants or plant parts can resist invasion by the bacteria, unless some type of wound is present. High humidity and temperatures around 30°C favor development of decay. Mutants can be produced which are less virulent. Virulence factors include: pectinases, cellulases, (which degrade plant cell walls), and also proteases, lipases, xylanases and nucleases (along with the normal virulence factors for pathogens – Fe acquisition, LPS integrity, multiple global regulatory systems).


cryptorchidism, llama

description: Cryptorchidism that occurs in llama.