name: blepharophimosis-epicanthus inversus-ptosis due to copy number variations

description: Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement.


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


name: intellectual disability-hypotonia-spasticity-sleep disorder syndrome


name: megaconial type congenital muscular dystrophy


heartwater disease

description: A tick-borne septicemic disease of domestic and wild ruminants caused by ehrlichia ruminantium.


botryomycosis

description: A rare chronic suppurative bacterial infection involving mostly subcutaneous tissues and less frequently other organs. Botryomycosis is mostly caused by Staphylococcus aureus, Escherichia coli and Pseudomonas aeruginosa but the exact pathogenesis remains uncertain. Treatment often requires a combination of both surgical debridement and long-term antimicrobial therapy.


name: hypotonia, infantile, with psychomotor retardation and characteristic facies 1

description: Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the NALCN gene.


name: sulfide quinone oxidoreductase deficiency


name: hypophosphatemia, renal, with intracerebral calcifications


primary orthostatic hypotension

description: Primary orthostatic hypotension is a rare type of orthostatic hypotension. It is not a disease per se, but a condition caused by several disorders that affect a specific part of the autonomic nervous system, such as multiple system atrophy, young-onset Parkinson's disease, pure autonomic failure, dopamine beta-hydroxylase deficiency, familial dysautonomia, and pure autonomic failure among others. The autonomic nervous system is the part of the nervous system that regulates certain involuntary body functions such as heart rate, blood pressure, sweating, and bowel and bladder control. Orthostatic hypotension is a form of low blood pressure that happens when standing-up from sitting or lying down. Common symptoms may include dizziness, lightheadedness, generalized weakness, leg buckling, nausea, blurry vision, fatigue, and headaches. Additional symptoms can include chest pain (angina), head and neck pain (often affecting neck and shoulders with a coat hanger distribution), decline in cognitive functioning such as difficulty concentrating, temporary loss of consciousness or “blackout”. Some people with primary orthostatic hypotension may also have high blood pressure when lying down. The treatment depends upon several factors including the specific underlying cause including The treatment depends upon several factors including the specific underlying cause and may include physical counter-maneuvers like lying down, sitting down, squatting clenching buttocks, leg crossing, and support garment and medication.


parneoplastic endocrine syndrome

description: Paraneoplastic syndrome that involves the endocrine system.


achondrogenesis type IA

description: Achondrogenesis type 1A (ACG1A), a form of achondrogenesis, is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.


GNPTG-mucolipidosis

description: A very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis II and mucolipidosis III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency.


polydactyly, horse

description: Polydactyly that occurs in horse.


herpangina

description: A viral infectious disease that results in infection located in mouth, has material basis in Human coxsackievirus A16, has material basis in Human enterovirus 71, has material basis in group B coxsackievirus, or has material basis in echoviruses, which are transmitted by ingestion of food contaminated with feces, transmitted by contact with pharyngeal secretions, or transmitted by droplet spread of oronasal secretions. The infection has symptom fever, has symptom sore throat, and has symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars.


atypical lipomatous tumor

description: An intermediate, locally aggressive lipomatous neoplasm. Microscopically, the adipose tissue contains large and pleomorphic lipoblasts, and is dissected by fibrous septa containing spindle cells. It requires a wide local excision, may recur locally, but never metastasizes.


name: thyroid hormone plasma membrane transport defect


name: facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome

description: Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome is characterized by Dandy-Walker malformation, severe intellectual deficit, macrocephaly, brachytelephalangy, facial dysmorphism and severe myopia. Three cases have been described. Transmission appears to be autosomal recessive.


combined PSAP deficiency

description: Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses.


acquired hemoglobinopathy

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


hereditary von Willebrand disease

description: Hereditary von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N).


humeral agenesis/hypoplasia

description: Humeral agenesis/hypoplasia is a rare, non-syndromic limb reduction defect characterized by the unilateral or bilateral presence of a short arm with completely absent or underdeveloped humerus, frequently associated with ulnar and/or radial malformations. Patients may present with the appearance of the forearm directly attached to the shoulder, no articulation at the shoulder joint, impossible passive extension of the arm beyond the mid-axillary line, no elbow joints, bowing of the radius, a short ulna and/or ulnar/radial deviation of the hand at the wrist.


non-histaminic angioedema

description: Angioedema is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain.


chicken lymphoma

description: Lymphoma that occurs in a chicken.


name: neurodevelopmental disorder with or without anomalies of the brain, eye, or heart


X-linked spinocerebellar ataxia type 4

description: Spinocerebellar ataxia, X-linked, type 4 is characterized by ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life.


name: thrombophilia, X-linked, due to factor 9 defect

description: A hemostatic disorder characterized by a tendency to thrombosis that has X-linked recessive inheritance, and can be caused by a gain-of-function mutation in the gene encoding factor IX (F9).


pediatric meningioma

description: A meningioma that occurs during childhood.


neuronal ceroid lipofuscinosis 11

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


focal facial dermal dysplasia type III

description: Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.


sterol carrier protein 2 deficiency

description: A peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy.


name: short stature-wormian bones-dextrocardia syndrome

description: Short stature-wormian bones-dextrocardia syndrome is a multiple congenital anomalies syndrome characterized by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymetry, mild developmental delay, hemimegalencephaly and facial dysmorphism, such as hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia.


name: congenital disorder of deglycosylation 1

description: A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities.


name: leukoencephalopathy with bilateral anterior temporal lobe cysts

description: Leukoencephalopathy with bilateral anterior temporal lobe cysts is a nonprogressive neurological disorder marked by intellectual deficit, spasticity and motor retardation associated with characteristic MRI findings of anterior bilateral temporal lobe cysts and multilobar leukoencephalopathy. So far, around 30 cases have been reported in the literature. Onset occurs in the first few months of life. Sensorineural deafness and microcephaly have also been reported. The etiology is unknown but an autosomal recessive mode of inheritance has been suggested.


name: mitochondrial complex 4 deficiency, nuclear type 14


inhalational anthrax

description: A rare acute systemic infection caused by the inhalation of Bacillus anthracis spores (e.g. through infected animal products, bioterrorism) and characterized by an initial stage where patients present with non specific symptoms (fever, cough, chills, fatigue) that is followed by an acute phase during which hemorrhagic mediastinitis occurs that can progress into meningitis, gastrointestinal involvement, and refractory shock, that can be fatal, if left untreated.


name: intellectual disability, autosomal dominant 33

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DPP6 gene.


congenital stromal corneal dystrophy

description: Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss.


description: X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982.


dentinogenesis imperfecta type 2

description: Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI) and is characterized by weakness and discoloration of all teeth.


name: infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia

description: A rare genetic respiratory disease characterized by infantile onset of pulmonary alveolar proteinosis with hypogammaglobulinemia. Patients have normal respiratory function at birth, but subsequently develop recurrent, mainly viral, infections and progressive respiratory failure, often leading to death in infancy or early childhood. Additional reported features include leukocytosis and splenomegaly.


moderately severe hemophilia A

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


name: glutamic acid decarboxylase, brain, membrane form


hereditary spastic paraplegia 10

description: Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case.


BBS9-related ciliopathy

description: Any ciliopathy caused by variants in the BBS9 gene.


spondylocostal dysostosis 5

description: Any spondylocostal dysostosis in which the cause of the disease is a mutation in the TBX6 gene.


glucocorticoid deficiency 2

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


amelia of lower limb

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


name: central polydactyly of fingers, bilateral


alveolar periostitis

description: A condition sometimes occurring after tooth extraction, particularly after traumatic extraction, resulting in a dry appearance of the exposed bone in the socket, due to disintegration or loss of the blood clot. It is basically a focal osteomyelitis without suppuration and is accompanied by severe pain (alveolalgia) and foul odor. (Dorland, 28th ed)


name: bundle branch block, familial isolated complete right


granular corneal dystrophy type I

description: Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe.


name: progressive supranuclear palsy-progressive non-fluent aphasia syndrome

description: PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP.


name: spondylocostal dysostosis, autosomal recessive, dog

description: Spondylocostal dysostosis, autosomal recessive that occurs in dog.


benign neoplasm of meninges

description: A benign neoplasm that involves the meningeal cluster.


congenital myasthenic syndrome 16

description: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SCN4A gene.


HIV enteropathy

description: A syndrome characterized by chronic, well-established diarrhea (greater than one month in duration) without an identified infectious cause after thorough evaluation, in an hiv-positive individual. It is thought to be due to direct or indirect effects of hiv on the enteric mucosa. hiv enteropathy is a diagnosis of exclusion and can be made only after other forms of diarrheal illness have been ruled out. (Harrison's Principles of Internal Medicine, 13th ed, pp1607-8; Haubrich et al., Bockus Gastroenterology, 5th ed, p1155)


vitamin D-dependent rickets, type 2A

description: Rickets caused by a defect in the VDR gene, encoding the vitamin D receptor. This form of rickets is characterized by hypocalcemia, elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations and may also manifest with alopecia.


pulmonary artery coming from the aorta

description: Pulmonary artery coming from the aorta (PACA) is a cardiac malformation characterized by anomalous origin of one branch of the pulmonary arteries from the ascending aorta and a normal origin of the other pulmonary artery from the right ventricular outflow tract, and presenting with respiratory distress, congestive heart failure and failure to thrive within the first days/months of life.


name: antithrombin, familial hemorrhagic diathesis due to


name: B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality

description: B-lymphoblastic leukemias/lymphomas characterized by the presence of recurring cytogenetic and/or molecular abnormalities.


disorder of bile acid aminotransferase

description: Any peroxisomal single enzyme/protein defect that has its basis in the disruption of bile acid aminotransferase.


isolated congenital entropion

description: A rare eyelid malposition disorder characterized by congenital abnormal inversion of the eyelid towards the globe, potentially causing mechanical irritation of the ocular surface by the eyelashes, which may lead to corneal abrasion and scarring with visual impairment. Typical initial symptoms are foreign body sensation, redness, tearing, and ocular discharge.


name: familial steroid-resistant nephrotic syndrome with sensorineural deafness


name: macrothrombocytopenia, isolated, 2, autosomal dominant


lethal faciocardiomelic dysplasia

description: Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome.


hypoplasminogenemia

description: A rare multi-system disease characterized by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae.


name: neurodegeneration with brain iron accumulation 9


meningoencephalitis

description: Inflammation of the meninges and brain, generally secondary to an infectious cause. Pathogens may be bacterial, viral, fungal, or protozoan.


name: intellectual disability, autosomal dominant 1

description: An autosomal dominant condition caused by mutation(s) in the MBD5 gene, encoding methyl-CpG-binding domain protein 5. It is characterized by severe developmental and cognitive delay, short stature, craniofacial dysmorphism, and seizures.


peritoneum cancer

description: A malignant neoplasm involving the peritoneum


monkey disease

description: Diseases of Old World and New World monkeys. This term includes diseases of baboons but not of chimpanzees or gorillas (= ape diseases).


description: A syndrome is characterized by ataxia, delayed dentition, hypomyelination and cerebral atrophy. So far, eight cases have been described.


anterior optic tract meningioma

description: A meningioma that affects the anterior visual pathway.


orbital granuloma

description: A granuloma located on the orbit of the eye.


name: immunodeficiency, common variable, due to APRIL deficiency

description: Any commonn variable immunodeficiency in which the cause of the disease is an autosomal recessive variation in the TNFS13 gene.


benign Samaritan congenital myopathy

description: Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood.


hyperaldosteronism, domestic cat

description: Hyperaldosteronism that occurs in domestic cat.


non-syndromic brachydactyly of fingers

description: A non-syndromic brachydactyly that involves the manus.


AA amyloidosis, cheetah

description: AA amyloidosis that occurs in cheetah.


name: calvarial doughnut lesions-bone fragility syndrome

description: This syndrome is characterized by multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria.


name: chorea, childhood-onset, with psychomotor retardation


autosomal recessive disease

description: Autosomal recessive form of disease.


name: intellectual disability, autosomal recessive 16


distal monosomy 1q

description: 1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies.


name: early-onset pulmonary and cutaneous vasculitis

description: A monogenic autoinflammatory disorder caused by a de novo activating mutation, p.Tyr515∗, in hematopoietic cell kinase (HCK). The disease is characterized by cutaneous vasculitis and chronic pulmonary inflammation that progresses to fibrosis.


alcohol and nicotine codependence

description: A drug dependence that is the physiological result of being addicted to alcohol and nicotine.


thyroid dyshormonogenesis 4

description: Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the IYD gene.


Cenani-Lenz syndactyly syndrome

description: Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.


name: autosomal recessive nonsyndromic hearing loss 37

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene.


soft tissue chondroma

description: A benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification.


neurolymphomatosis

description: A transmissible viral disease of birds caused by avian herpesvirus 2 (herpesvirus 2, gallid) and other mardivirus. There is lymphoid cell infiltration or lymphomatous tumor formation in the peripheral nerves and gonads, but may also involve visceral organs, skin, muscle, and the eye.


tooth agenesis, selective, 3

description: Any tooth agenesis in which the cause of the disease is a mutation in the PAX9 gene.


FRAXE intellectual disability

description: A nonsyndromic X-linked mental retardation (NS-XLMR) characterized by mild intellectual deficit. FRAXE is the most common form of NS-XLMR.


name: visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome

description: Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome is characterized by facial dysmorphology, neuropathic visceral dysmotility, neurogenic megacystis, intracerebral calcifications and developmental delay. It has been described in two siblings (brother and sister) born to consanguineous parents. The girl also had microcephaly and multicystic kidneys. The boy had a more extensive neuropathic visceral disorder, leading clinically to chronic intestinal pseudo-obstruction syndrome (CIPO).


B-cell adult acute lymphocytic leukemia

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


name: focal palmoplantar and gingival keratoderma

description: Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial- and lingual- attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement.


primary ciliary dyskinesia 5

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


name: disease related to hematopoietic stem cell transplant

description: Disease that occurs as a consequence of immunosuppression in a recipient of a hematopoietic stem cell transplant, or as a consequence of the transplantation.


name: carnitine palmitoyl transferase II deficiency, neonatal form

description: The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.


Mycoplasma encephalitis

description: Mycoplasma encephalitis is a rare infectious encephalitis characterized by an acute onset of neurological signs and symptoms (e.g. altered consciousness, seizures, headaches, meningeal signs, behavioral changes) due to bacterial infection by Mycoplasma pneumoniae. Patients typically present unspecific signs and symptoms, such as fever, nausea, vomiting, fatigue, prior to onset of neurological manifestations and frequently have a history of a respiratory tract infection (e.g. pneumonia, bronchiolitis, pharyngitis).


name: mullerian duct anomalies-limb anomalies syndrome

description: Mullerian duct anomalies-limb anomalies syndrome is characterized by the association of mullerian duct and distal limb anomalies. It has been described in five individuals from one family. Females presented with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males presented with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. The mode of transmission is autosomal dominant.


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


benign neoplasm of testis

description: A benign neoplasm that involves the testis.


name: focal palmoplantar keratoderma with joint keratoses


Cornelia de Lange syndrome 4

description: Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the RAD21 gene.


name: hypogonadotropic hypogonadism 22 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FEZF1 gene.


name: agenesis of corpus callosum, cardiac, ocular, and genital syndrome


premature closure of the arterial duct

description: Premature closure of the arterial duct is a rare arterial duct anomaly, defined as a significant constriction or closure of the fetal arterial duct in the absence of structural heart defects with pathognomonic features of increased right ventricular afterload, tricuspid regurgitation and, consequently, right atrial dilation and right ventricular hypertrophy. The severity of symptoms is related to the degree and rate of ductal constriction and ranges from mild postnatal respiratory distress to development of ventricular failure with fetal hydrops and intrauterine death or severe cardiopulmonary compromise in the postnatal period. It may be associated with a prenatal exposure to cyclooxygenase inhibitors or corticosteroids.


brainstem neoplasm

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


Bannayan-Riley-Ruvalcaba syndrome

description: Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.


name: porencephaly-cerebellar hypoplasia-internal malformations syndrome

description: Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterized by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed.


name: congenital dyserythropoietic anemia type 2

description: Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones.


name: MELAS syndrome caused by mutation in MTND1

description: Any MELAS syndromein which the cause of the disease is a mutation in the MTND1 gene.


mast cell neoplasm

description: A heterogeneous group of disorders characterized by the abnormal growth and accumulation of mast cells in one or more organ systems. Recent data suggest that most variants of mast cell neoplasms are clonal disorders. (WHO, 2001)


heart aneurysm

description: A localized bulging or dilatation in the muscle wall of a heart (myocardium), usually in the left ventricle. Blood-filled aneurysms are dangerous because they may burst. Fibrous aneurysms interfere with the heart function through the loss of contractility. True aneurysm is bound by the vessel wall or cardiac wall. False aneurysms are hematoma caused by myocardial rupture.


Czeizel-Losonci syndrome

description: Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spinabifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects.There have been no further descriptions in the literature since 1987.


name: malignant dysgerminomatous germ cell tumor of ovary

description: Malignant dysgerminomatous germ cell tumor of ovary is the most common form of malignant germ cell tumor of ovary, arising from germ cells in the ovary, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding, and acute abdomen and is characterized by bilaterality (around 10% of cases), association with dysgenetic gonads (5 to 10% of cases), elevated serum lactate dehydrogenase (LDH) and human chorionic gonadotrophin (hCG) (in the presence of syncitiotrophoblasts). Malignant dysgerminomatous germ cell tumor of ovary responds well to chemotherapy, potentially sparing patients from infertility and early mortality.


true unicornuate uterus

description: True unicornuate uterus is a rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube with no rudimentary horn. Urinary tract anomalies are frequently associated.


name: DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion


ovarian hyperstimulation syndrome

description: A complication of ovulation induction in infertility treatment. It is graded by the severity of symptoms which include ovary enlargement, multiple ovarian follicles; ovarian cysts; ascites; and generalized edema. The full-blown syndrome may lead to renal failure, respiratory distress, and even death. Increased capillary permeability is caused by the vasoactive substances, such as vascular endothelial growth factors, secreted by the overly-stimulated ovaries.


name: neurodevelopmental disorder plus optic atrophy


name: undetermined early-onset epileptic encephalopathy

description: A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also variable and may include cerebral atrophy or white matter abnormalities.


cataract 37

description: A cataract that has material basis in variation in the region 12q24.2-q24.3.


Brazilian hemorrhagic fever

description: Brazilian hemorrhagic fever, caused by the Sabia virus (a newly discovered arenavirus), is a viral hemorrhagic fever, believed to originate from Sao Paulo, Brazil, with only 3 reported cases (2 of which were due to laboratory accidents) to date, characterized by fever, nausea vomiting myalgia tremors, and hemorragic manifestations such as conjunctival petechia and haematemesis, leading potentially to shock, coma and death.


familial temporal lobe epilepsy 8

description: A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has material basis in heterozygous mutation in the GAL gene on chromosome 11q13.


name: autosomal dominant nonsyndromic hearing loss 30

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 15q25-q26.


description: Pseudomembranous colitis resulting from infection by Corynebacterium diphtheriae.


malignant cornea melanoma

description: A melanoma within the cornea of the eye.


macular degeneration, age-related, 3

description: Any age-related macular degeneration in which the cause of the disease is a mutation in the FBLN5 gene.


name: developmental and epileptic encephalopathy, 19

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRA1 gene.


acquired prothrombin deficiency

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


Lujo hemorrhagic fever

description: Lujo hemorrhagic fever, caused by the Lujo virus (a newly discovered Old World arenavirus) is a zoonotic disease from Zambia, Africa, whose reservoir is unknown and is characterized by fever and hemorrhagic manifestations with an extremely high fatality rate of 80% (in the 5 reported cases to date) and a moderate to high level of nosocomial transmission.


Bardet-Biedl syndrome 10

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS10 gene.


renal-hepatic-pancreatic dysplasia 1

description: Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NPHP3 gene.


name: intellectual disability, autosomal dominant 10

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CACNG2 gene.


osteochondrosis, non-human animal

description: Osteochondrosis that occurs in non-human animals.


Dent disease type 2

description: Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features.


strabismus, domestic cat

description: Strabismus that occurs in domestic cat.


isolated osteopoikilosis

description: A osteopoikilosis (disease) that is not part of a larger syndrome.


name: neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities


GNPTAB-mucolipidosis

description: An autosomal recessive mucolipidosis disorder caused by bi-allelic variants in the GNPTAB gene. Symptoms of this condition occur across a clinical spectrum including mucolipidosis type II (ML II) and mucolipidosis type III alpha/beta (ML IIIα/β), and phenotypes intermediate between ML II and ML IIIα/β.


name: early-onset autoimmune disorder due to DOCK11 partial deficiency


amyotrophic lateral sclerosis type 16

description: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SIGMAR1 gene.


name: epidermolysis bullosa, junctional 5A, intermediate


name: Pelizaeus-Merzbacher disease in female carriers

description: Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD in some women carrying mutations in the PLP1 gene (Xq22).


name: developmental delay with hypotonia, myopathy, and brain abnormalities


keratosis palmoplantaris striata 2

description: Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the DSP gene.


asphyxiating thoracic dystrophy 2

description: Any Jeune syndrome in which the cause of the disease is a mutation in the IFT80 gene.


malignant teratoma

description: A malignant form of teratoma.


X-linked dominant disease

description: X-linked dominant form of disease.


ring chromosome 19

description: Ring chromosome 19 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (esp. speech) and mild dysmorphism (incl. micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (e.g. hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia, and talipes equinovarus, have also been reported.


name: intellectual developmental disorder, autosomal recessive 79


progressive bulbar palsy of childhood

description: A progressive bulbar palsy of childhood that occurs during childhood.


lentigo

description: A flat, benign, pigmented spot on the skin caused by excessive deposition of melanin from an increased number of melanocytes in the cell layer directly above the basement membrane of the epidermis. Formation is usually related to sun exposure during youth, and the lesions do not typically progress to malignancy.


Joubert syndrome 13

description: Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN1 gene.


name: spinocerebellar ataxia with rigidity and peripheral neuropathy


name: noduli Cutanei, multiple, with urinary tract abnormalities


wandering spleen

description: A condition characterized by an abnormal spleen position due to loss, weakness, or malformation of one or more of the ligaments that hold the spleen in its normal position in the left upper abdomen. It may present as a birth defect or follow injuries or pregnancy. Signs and symptoms include abdominal discomfort and splenomegaly.


name: midface hypoplasia, obesity, developmental delay, and neonatal hypotonia


name: B-lymphoblastic leukemia/lymphoma with hypodiploidy

description: A precursor lymphoid neoplasm composed of B-lymphoblasts which contain less than 46 chromosomes. It has an unfavorable clinical outcome.


preeclampsia/eclampsia 4

description: Any preeclampsia in which the cause of the disease is a mutation in the STOX1 gene.


arteriosclerosis obliterans

description: Common occlusive arterial disease which is caused by atherosclerosis. It is characterized by lesions in the innermost layer (arterial intima) of arteries including the aorta and its branches to the extremities. Risk factors include smoking, hyperlipidemia, and hypertension.


name: asynchronous multifocal osteogenic sarcoma

description: A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered between 6 and 24 months after the appearance of the initial tumor. Patients with asynchronous tumors have a better prognosis than those with synchronous osteosarcomas.


name: congenital herpes simplex virus infection

description: Congenital herpes virus infection is a group of anomalies that an infant may present as a result of maternal infection and subsequent fetal infection with herpes virus. This virus causes recurrent cutaneous infections in adults, often involving the lips or the genitalia. Herpes infections in other organs, such as the liver or central nervous system, are less frequent.


name: extensive peripapillary myelinated nerve fibers


mandibulofacial dysostosis, cattle

description: Mandibulofacial dysostosis that occurs in cattle.


name: orthostatic hypotensive disorder, Streeten type


hypercalcemic sarcoidosis

description: Sarcoidosis with a complication of hypercalcemia.


name: neurodegeneration with brain iron accumulation 2A

description: A rare autosomal recessive neurodegenerative disorder caused by mutations in the PLA2G6 gene. It is characterized by the development of swellings called spehroids along the axons of the central nervous system. Signs and symptoms appear early in life and include movement difficulties, muscle hypotonia and spasticity, and dementia.


RAB28-related retinopathy

description: A retinopathy caused by biallelic variants in the RAB28 gene.


necrotizing ulcerative gingivitis

description: A bacterial infectious process affecting the gums. It is characterized by the development of necrotic, ulcerated, and painful lesions with creation of pseudomembranes extending along the gingival margins.


name: malignant germ cell tumor of cervix uteri

description: A malignant germ cell tumor that involves the uterine cervix.


spinal accessory nerve neoplasm

description: A neoplasm involving a accessory XI nerve spinal component.


name: cardiomyopathy and deafness due to tRNA lysine gene mutation

description: A specific change in the MTTK gene causes a condition characterized by weakened heart muscle (cardiomyopathy) and hearing loss. Affected individuals may also have myopathy and ataxia. This mutation replaces the DNA building block (nucleotide) guanine with the nucleotide adenine at position 8363 (written as G8363A) within the gene. It is unclear how this alteration in the MTTK gene results in cardiomyopathy, hearing loss, and other symptoms.


name: granulomatous disease, chronic, autosomal recessive, 5


Israeli tick typhus

description: An infectious disease caused by infection with rickettsia conorii subsp. israelensis.


papular elastorrhexis

description: An acquired form of collagenoma that appears in childhood. It is characterized by discrete, firm, skin-colored, and slightly elevated cutaneous papules, nodules or plaques that may be generalized, or found on the trunk and the extremities.


chromosome 18 disorder

description: Chromosomal disorder in which chromosome 18 is affected.


glucose transport disorder

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


name: spondylometaphyseal dysplasia, Czarny-Ratajczak type


name: facio skeletal genital syndrome rippberger type


vaginal cancer

description: A primary or metastatic malignant neoplasm involving the vagina. Representative examples include carcinomas and sarcomas.


Dandy-Walker syndrome, sheep

description: Dandy-Walker syndrome that occurs in sheep.


name: muscular dystrophy, limb-girdle, autosomal dominant 4


name: corneal dystrophy-perceptive deafness syndrome

description: Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED) with progressive, postlingual sensorineural hearing loss.


name: lissencephaly with cerebellar hypoplasia

description: Lissencephaly with cerebellar hypoplasia (LCH) is a variant form of lissencephaly and involves a heterogeneous group of cortical malformations without severe congenital microcephaly (>-3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F.


name: Osebold skeletal dysplasia/osteolysis syndrome


acquired adrenogenital syndrome

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


prostate angiosarcoma

description: A malignant vascular neoplasm arising from the prostate.


indeterminate dendritic cell tumor

description: A very rare dendritic cell tumor composed of spindle to ovoid cells with a phenotype that is similar to the Langerhans cells. Patients usually present with cutaneous papules, nodules, and plaques. Systemic symptoms are usually absent. The clinical course is variable.


name: Angelman syndrome due to a point mutation


name: psoriasis-related juvenile idiopathic arthritis

description: Childhood arthritis typically associated with psoriasis.


Hypoglossia-hypodactyly syndrome

description: A rare condition that primarily affects the craniofacial region and the limbs (arms and legs). People affected by this condition are often born with a short, incompletely developed tongue; absent or partially missing fingers and/or toes; abnormalities of the arms and/or legs; and an extremely small jaw. The severity of these physical abnormalities varies greatly among affected people, and children with this condition often have some, but not all, of the symptoms. The cause of Hanhart syndrome is not fully understood. Treatment depends on the signs and symptoms present in each person.


description: This syndrome is characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis.


name: florid cystic endosalpingiosis of the uterus


malposition of the coronary ostium

description: Malposition of the coronary ostium is a rare coronary artery congenital malformation characterized by displacement of one of the coronary arteries, originating closer to the aortic root or to the commissural area. The anomaly is considered to be asymptomatic, however, it may impose surgical difficulties during aortic root surgery.


feline erythroleukemia

description: Erythroleukemia that occurs in a cat.


caveolinopathy

description: A group of muscle diseases with basis in CAV3, which encodes caveolin-3, a muscle-specific membrane protein and the principal component of caveolae membrane in muscle cells in vivo. It is the only gene in which pathogenic variants are known to cause caveolinopathies. Sequence analysis identifies pathogenic variants in more than 99% of affected individuals


name: intellectual disability, X-linked, syndromic, Bain type

description: An X-linked dominant condition caused by mutation(s) in the HNRNPH2 gene, encoding heterogeneous nuclear ribonucleoprotein H2. It is characterized by delayed psychomotor development, intellectual disability with behavioral abnormalities, and dysmorphic facial features in females.


RNU4ATAC spectrum disorder

description: A syndromic disease characterized by growth restriction, microcephaly, skeletal dysplasia, and cognitive impairment. Less common but variable findings include brain anomalies, seizures, strokes, immunodeficiency, and cardiac anomalies, as well as ophthalmologic, skin, renal, gastrointestinal, hearing, and endocrine involvement. The term includes Microcephalic osteodysplastic primordial dwarfism type I/III (MOPDI), Taybi-Linder syndrome, Lowry-Wood syndrome, and Roifman syndrome.


subclavian artery aneurysm

description: A subclavian aneurysm is weakness or bulging in the wall of the subclavian artery, which is located below the collarbone. If the aneurysm ruptures, it can cause life-threatening, uncontrolled bleeding. Blood clots caused by the aneurysm can potentially lead to stroke or loss of fingers, the hand or, in rare cases, the entire arm.


congenital portosystemic shunt

description: Congenital portosystemic shunt is a rare, congenital anomaly of the great veins characterized by an abnormal communication between one or more veins of the portal and the caval systems, resulting in complete or partial diversion of the portal blood away from the liver to the systemic circulation. Clinical manifestations include liver atrophy, hypergalactosemia without uridine diphosphate enzyme deficiency, hyperammonemia, encephalopathy (resulting in learning disabilities, extreme fatigability and seizures), pulmonary hypertension, hypoxemia from hepatopulmonary syndrome and benign or malignant tumors.


philophthalmiasis

description: A disease caused by infection with Philophthalmus.


refractory malignant neoplasm

description: A malignant neoplasm that does not respond to treatment.


name: intra-abdominal lymph node mast cell malignancy


Summitt syndrome

description: Summitt syndrome is an extremely rare disorder originally described in two brothers and characterized by mild to severe craniosynostosis and syndactyly, obesity, and normal intelligence. Acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum and marked obesity were later described in another patient. There have been no further descriptions in the literature since 1979. Summitt syndrome could be a variant of Carpenter syndrome.


humero-radio-ulnar synostosis

description: Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated.


heterotaxy, visceral, 5, autosomal

description: Any visceral hetetotaxy in which the cause of the disease is a mutation in the NODAL gene.


biotin metabolic disease

description: A deficiency in biotin through either inherited or acquired causes.


retinitis pigmentosa 45

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGB1 gene.


urolithiasis, domestic guinea pig

description: Urolithiasis that occurs in domestic guinea pig.


non-gestational choriocarcinoma

description: A highly malignant choriocarcinoma derived from the non-placental origin such as the totipotent cells in the testis, the ovary, and the pineal gland. It produces high levels of chorionic gonadotropin and can metastasize widely through the bloodstream to the lungs, brain, liver, bone, and other viscera by the time of diagnosis.


acute sphenoidal sinusitis

description: Acute form of sphenoid sinusitis.


blepharocheilodontic syndrome

description: An ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth.


dermo-odonto dysplasia

description: Dermo-odonto dysplasia belongs to the group of tricho-odonto-onychial dysplasias. It is characterized by signs of variable severity: dry and thin skin, dental anomalies, nail alteration and trichodysplasia. Fourteen cases have been described so far. Autosomal dominant transmission is likely.


neuroectodermal-endocrine syndrome

description: Neuroectodermal-endocrine syndrome is characterized by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar.


description: A lipodystrophy characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance.


hereditary spastic paraplegia 46

description: A rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase.


Löfgren syndrome

description: A sarcoidosis characterized by the triad of erythema nodosum, bilateral hilar lymphadenopathy on chest radiograph, and joint pain.


tendon sheath disorder

description: A disease that involves the tendon sheath.


name: autosomal dominant nonsyndromic hearing loss 3A

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB2 gene.


dysbaric osteonecrosis

description: A form of avascular necrosis where there is death of a portion of the bone that is thought to be caused by nitrogen embolism.


extramedullary conus spinal cord lipoma

description: A rare closed lipomatous, dysraphic malformation of the lower spinal cord characterized by extramedullary lipomatous mass attached to the conus region. The conus is dysplastic and poorly delineated. Various morphological subtypes are recognized. Possible symptoms include bowel and bladder dysfunction and neuro-orthopedic deformity of the lower limbs.


frontofacionasal dysplasia

description: Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes).


name: autosomal recessive distal osteolysis syndrome

description: Autosomal recessive distal osteolysis syndrome is an early-onset distal osteolysis characterized by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait.


dedifferentiated solitary fibrous tumor

description: A solitary fibrous tumor characterized by the presence of areas of abrupt transition to high grade sarcoma.


name: neuronopathy, distal hereditary motor, type 2D

description: Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the FBXO38 gene.


name: developmental and epileptic encephalopathy, 60


hemimelia

description: Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia. Hemimelia ranges in severity.


name: qualitative or quantitative defects of telethonin


name: partial duplication of the long arm of chromosome 7

description: Chromosome 7q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.


name: myoclonic encephalopathy in non-progressive disorder

description: This group of epilepsies are typically is characterized by onset of seizures from day 1 of life to 5 years (peak 12 months). Both sexes are affected, however the male to female ratio is 1:2. Antecedent (including birth) history, head size, neurological and developmental findings reflect the underlying cause (if known). Myoclonic status epilepticus is often the initial presenting seizure type, however other initial seizure types may also occur. Prognosis is unfavorable with severe neurological and developmental impairments typically seen.


nerve root neoplasm

description: Benign and malignant neoplasms arising from one or more of the cervical, thoracic, lumbar, sacral, or coccygeal nerve roots. The majority of these tumors are benign. Clinical manifestations may include pain, weakness and loss of sensation along the course of the involved nerve root. Large tumors may cause spinal cord compression.


name: transient congenital hypothyroidism due to neonatal factor


systemic lupus erythematosus, dog

description: Systemic lupus erythematosus that occurs in dog.


leishmaniasis

description: Infectious disease that is transmitted through the bite of hematophagous female phlebotomine sand flies. The clinical spectrum ranges from asymptomatic to clinically overt disease which can remain localized to the skin or disseminate to the upper oral and respiratory mucous membranes or throughout the reticulo-endothelial system. Three main clinical syndromes have been described: visceral (or Kala-Azar; with fever, weight loss, hepatosplenomegaly), cutaneous, and mucocutaneous leishmaniasis (cutaneous or mucocutaneous ulceration).


name: hereditary sensory and autonomic neuropathy type 6

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


name: acute intermittent porphyria, non-human animal

description: Acute intermittent porphyria that occurs in non-human animals.


name: skin fragility-woolly hair-palmoplantar keratoderma syndrome


name: 2-methylacetoacetyl CoA thiolase deficiency


capillary disorder

description: A disease involving a capillary.


spinocerebellar ataxia type 17

description: A rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.


mastitis, bovine

description: Inflammation of the udder in cows.


epulis

description: A non-neoplastic nodular lesion that arises from the gingiva.


name: intramedullary non-dysraphic spinal cord lipoma

description: A very rare non-dysraphic spinal cord lipoma characterized by being located within the spinal cord. There is no defect in the overlying dura.


name: neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity


name: classic or attenuated familial adenomatous polyposis

description: An inherited diseases haracterized by the development of adenomas in the rectum and colon; classified into classic FAP and attenuated FAP.


atypical glycine encephalopathy

description: Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE.


prostate leiomyosarcoma

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


name: glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form


craniotelencephalic dysplasia

description: Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983.


nemaline myopathy

description: Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy.


hypospadias, goat

description: Hypospadias that occurs in goat.


petroclival meningioma

description: A meningioma that affects the petroclival region.


dendritic cell tumor

description: A dendritic cell tumor develops from the cells of the immune system. This condition typically begins in the lymph system and may spread to nearby organs or distant parts of the body (metastasize). The symptoms and severity of the condition depend on the subtype and location of the tumor.


ataxia - telangiectasia variant

description: Ataxia-telangiectasia variant is a rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present.


Chediak-Higashi syndrome, killer whale

description: Chediak-Higashi syndrome that occurs in killer whale.


mononeuritis simplex

description: Neuritis of a single nerve.


infectious disease

description: A disorder directly resulting from the presence and activity of a microbial, viral, or parasitic agent in humans. It can be transmitted by direct or indirect contact.


peripheral ischemia

description: Deficient blood distribution to the limbs caused by narrowing or obstruction of the lumen of the peripheral arteries.


Krabbe disease, sheep

description: Krabbe disease that occurs in sheep.


name: intellectual developmental disorder, autosomal dominant 65


name: autosomal recessive nonsyndromic hearing loss 20

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11q25-qter.


name: hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency


name: Dandy-Walker malformation-postaxial polydactyly syndrome

description: Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals.


name: pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures


monoclonal paraproteinemia disease

description: A disease characterized by the presence of excessive amounts of paraprotein or single monoclonal gammaglobulin in the blood. It is usually due to an underlying immunoproliferative disorder or hematologic neoplasms, especially multiple myeloma.


benign neoplasm of choroid

description: A benign neoplasm that involves the optic choroid.


name: intravascular papillary endothelial hyperplasia

description: A reactive, well-circumscribed vascular lesion. It is characterized by the formation of thin papillae projecting within the lumen of blood vessels. The papillae are lined by plump endothelial cells. Blood clots are also present.


malignant soft tissue neoplasm

description: A malignant neoplasm arising exclusively from the soft tissues.


name: metaphyseal dysostosis-intellectual disability-conductive deafness syndrome

description: Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterized by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive.


name: fetal akinesia-cerebral and retinal hemorrhage syndrome

description: Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate.


name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5

description: Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RRM2B gene.


infectious meningitis

description: Inflammation of the meninges of the brain and/or spinal cord caused by an infectious agent (viral, bacterial, or fungal). Symptoms include headache, fever, vomiting, neck stiffness, photophobia, confusion, and seizures.


skin disorder caused by infection

description: Skin diseases caused by bacteria, fungi, parasites, or viruses.


cap myopathy

description: Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.


coloboma, domestic cat

description: Coloboma that occurs in domestic cat.


name: spinal muscular atrophy, facioscapulohumeral type


mesoblastic nephroma

description: A solid, unencapsulated tumor of the kidney composed of spindle mesenchymal cells that resemble fibroblasts or muscle cells. The homogeneous mass typically extends into the renal parenchyma and replaces most of the kidney. In most cases, mesoblastic nephroma is benign and occurs in the fetus or newborn, and rarely in the older child or the adult.


name: leukemia, chronic lymphocytic, susceptibility to, 5


broad ligament malignant neoplasm

description: A malignant neoplasm involving the broad ligament of uterus.


mammary-digital-nail syndrome

description: Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females.


name: neurological muscular channelopathy due to a genetic potassium channel defect


hypertrophic cardiomyopathy, pig

description: Hypertrophic cardiomyopathy that occurs in pig.


description: Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.


bone cancer

description: A primary or metastatic malignant neoplasm affecting the bone or articular cartilage.


leiomyoma

description: A well-circumscribed benign smooth muscle neoplasm characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.


name: camptodactyly syndrome, Guadalajara type 1

description: Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies.


name: optic atrophy with demyelinating disease of CNS


corneal-cerebellar syndrome

description: A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985.


toxemia of pregnancy

description: A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria.


nephrotic syndrome, type 6

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


name: isolated micronodular adrenocortical disease


name: glycosylphosphatidylinositol biosynthesis defect 15

description: A rare, genetic, syndromic intellectual disability characterized by global developmental delay, early-onset seizures, cerebellar atrophy, osteopenia, nystagmus and dysmorphic facial features, including bitemporal narrowing, prominent forehead, anteverted nares. Dysarthria, dysmetria, ataxic gait, spasticity and dysmorphic features have also been associated.


name: developmental and epileptic encephalopathy, 45

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB1 gene.


name: DONSON-related microcephaly-short stature-limb abnormalities spectrum

description: A rare autosomal recessive microcephalic primordial dwarfism characterized by congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe.


name: pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome

description: Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion.


name: progressive retinal dystrophy due to retinol transport defect


omphalitis, non-human animal

description: Omphalitis that occurs in non-human animals.


name: myopathy, lactic acidosis, and sideroblastic anemia 1

description: Any myopathy, lactic acidosis, and sideroblastic anemia in which the cause of the disease is a mutation in the PUS1 gene.


3M syndrome 1

description: Any 3-M syndrome in which the cause of the disease is a mutation in the CUL7 gene.


skeletal muscle neoplasm

description: A benign or malignant mesenchymal neoplasm arising from skeletal muscle.


post-COVID-19 disorder

description: A SARS-CoV-2-related disease that is caused by infection by SARS-CoV-2, and manifests after the original primary infection.


carbohydrate metabolism disease

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


16p13.11 microdeletion syndrome

description: 16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems.


adult lymphoma

description: A lymphoma that occurs in an adult.


bovine virus diarrhea-mucosal disease

description: Acute disease of cattle caused by the bovine viral diarrhea viruses (diarrhea viruses, bovine viral). Often mouth ulcerations are the only sign but fever, diarrhea, drop in milk yield, and loss of appetite are also seen. Severity of clinical disease varies and is strain dependent. Outbreaks are characterized by low morbidity and high mortality.


posthitis

description: An inflammatory disease involving a pathogenic inflammatory response in the prepuce of penis.


name: recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome

description: Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position.


telangiectatic osteogenic sarcoma

description: An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of a cystic architecture with blood-filled spaces. The prognosis is similar to that of conventional osteosarcoma.


dermatitis herpetiformis, familial

description: Dermatitis herpetiformis is a rare, chronic, skin disorder characterized by groups of severely itchy blisters and raised skin lesions. These are more common on the knees, elbows, buttocks and shoulder blades. The slow onset of symptoms usually begins during adulthood, but children can also be affected. Other symptoms mayinclude fluid-filled sores; red lesions that resemble hives; and itchiness, rednessand burning. The exact cause of this disease is not known,but it is frequently associated with the inability to digest gluten. People with this disease are typically treated with the drug dapsone.


dental pulp necrosis

description: Death of pulp tissue with or without bacterial invasion. When the necrosis is due to ischemia with superimposed bacterial infection, it is referred to as pulp gangrene. When the necrosis is non-bacterial in origin, it is called pulp mummification.


name: congenital myopathy 4B, autosomal recessive

description: Any congenital myopathy in which the cause of the disease is a mutation in the TPM3 gene.


Hartnup disease

description: Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).


melanocytic neoplasm

description: A benign, atypical, or malignant neoplasm that arises from and is composed of melanocytes. This category includes melanocytic nevi, melanocytomas, and melanomas.


name: developmental and epileptic encephalopathy 105 with hypopituitarism


myocardial disorder

description: A disorder that affects the muscle tissue of the heart. Representative examples include myocardial infarction, myocarditis, and cardiomyopathy.


sweat gland cancer

description: A malignant neoplasm that affects the sweat glands.


malignant dermis tumor

description: A malignant neoplasm involving the dermis.


name: necrotizing encephalomyelopathy, subacute, of Leigh, adult


ASAH1-related sphingolipidosis

description: A spectrum of disorders that includes Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. Both disorders are caused by mutations in the ASAH1 gene that encodes the lysosomal hydrolase that breaks down the bioactive lipid, ceramide.


name: glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form


name: myopathy, granulovacuolar lobular, with electrical myotonia


carbohydrate transport disease

description: A disease that has its basis in the disruption of carbohydrate transport.


name: optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive


unilateral retinoblastoma

description: A retinoblastoma that only involves a single eye.


Meckel syndrome, type 11

description: Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM231 gene.


mixed cell uveal melanoma

description: A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells.


name: autosomal dominant nonsyndromic hearing loss 53

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 14q11.2-q12.


name: congenital insensitivity to pain-hypohidrosis syndrome

description: A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has material basis in homozygous mutation in the PRDM12 gene on chromosome 9q34.


name: microphthalmia, isolated, with coloboma 6


name: hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism

description: Any amelogenesis imperfecta in which the cause of the disease is a mutation in the DLX3 gene.


myofibrillar myopathy, non-human animal

description: Myofibrillar myopathy that occurs in non-human animals.


name: autosomal dominant spondylocostal dysostosis

description: Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs.


hereditary spastic paraplegia 77

description: Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated.


mitral valve stenosis, non-human animal

description: Mitral valve stenosis that occurs in non-human animals.


name: autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD

description: Any autoimmune lymphoproliferative syndrome in which the cause of the disease is a mutation in the PRKCD gene.


hereditary spastic paraplegia 6

description: Autosomal dominant spastic paraplegia type 6 (SPG6) is a form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment.


GMS syndrome

description: GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992.


angular blepharoconjunctivitis

description: A blepharoconjunctivitis that is characterized by fissuring, scaling, maceration and erythema of the lateral or medial canthal area.


name: peripheral neuropathy, autosomal recessive, with or without impaired intellectual development


name: disorder of folate metabolism and transport


FG syndrome 2

description: Any FG syndrome in which the cause of the disease is a mutation in the FLNA gene.


coenzyme Q10 deficiency

description: A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency.


name: Angelman syndrome due to paternal uniparental disomy of chromosome 15


description: BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by {2:Paolini et al., 2017}).


hereditary spastic paraplegia 39

description: This syndrome is characterized by progressive spastic paraplegia and distal muscle wasting.


acquired kinky hair syndrome

description: Acquired progressive kinking of the hair (APKH) is a rare hair disorder characterized by the appearance of lustreless, curly, frizzy, and coarse hair generally during adolescence predominantly in the frontal, temporal, and vertex regions of the scalp. Eyelashes, as well as growth and pigmentation of the hair, may also be affected.


name: peroxisome biogenesis disorder 13A (Zellweger)


drug-induced lupus erythematosus

description: An autoimmune disorder, similar to systemic lupus erythematosus, that is caused by certain drugs.


name: thrombophilia due to protein C deficiency, autosomal recessive


name: autosomal recessive nonsyndromic hearing loss 1B

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene.


vitiligo, non-human animal

description: Vitiligo that occurs in non-human animals.


name: muscular dystrophy, Duchenne type, domestic cat

description: Muscular dystrophy, Duchenne type that occurs in domestic cat.


name: limbic encephalitis with DPP6 antibodies


name: hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome


name: linear skin defects with multiple congenital anomalies 2

description: Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the COX7B gene.


split hand, bilateral

description: Split hand, bilateral is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral underdevelopment or absence of the central rays of the autopod, with absence of all, or just some, of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age.


pontocerebellar hypoplasia, type 1C

description: Any pontocerebellar hypoplasia type 1 in which the cause of the disease is a mutation in the EXOSC8 gene.


name: developmental and epileptic encephalopathy, 21

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the NECAP1 gene.


corneal disorder

description: A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma.


name: autosomal recessive nonsyndromic hearing loss 93

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CABP2 gene.


Baraitser-winter syndrome 2

description: Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTG1 gene.


arbovirus infection

description: A viral infection that is transmitted by an arthropod.


name: hypogonadotropic hypogonadism 12 with or without anosmia

description: A hypogonadotropic hypogonadism that has material basis in homozygous mutation in the GNRH1 gene on chromosome 8p21.


name: facial onset sensory and motor neuronopathy

description: Facial onset sensory and motor neuronopathy is characterized initially by paraesthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease.


holoprosencephaly 9

description: Any holoprosencephaly in which the cause of the disease is a mutation in the GLI2 gene.


name: B-lymphoblastic leukemia/lymphoma with t(17;19)


tuberculous pneumothorax

description: A pneumothorax in which air enters into the pleural cavity.


polycystic kidney disease, pig

description: Polycystic kidney disease that occurs in pig.


name: craniometadiaphyseal dysplasia, wormian bone type

description: Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted.


benign neoplasm of parathyroid gland

description: A benign neoplasm that involves the parathyroid gland.


name: late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome


name: paternal uniparental disomy of chromosome 20

description: Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b testing and have UPD involving variable segments of the long arm of chromosome 20.


cornea plana 2

description: Any cornea plana in which the cause of the disease is a mutation in the KERA gene.


hereditary spastic paraplegia 57

description: An extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function.


schizophrenia 15

description: A schizophrenia that has material basis in a mutation of SHANK3 on chromosome 22q13.33.


name: spondyloepimetaphyseal dysplasia, Guo-Campeau type


traumatic brain injury

description: A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head.


middle cranial fossa meningioma

description: A meningioma that affects the middle cranial fossa.


dentin sensitivity

description: Pain or discomfort caused by exposure of the dentin layer of tooth to thermal, tactile, or other stimuli.


cyclothymic disorder

description: An affective disorder characterized by periods of depression and hypomania. These may be separated by periods of normal mood.


name: pelvic lipomatosis with crossed renal ectopia


name: cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome


name: neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures


cutaneous collagenous vasculopathy

description: Cutaneous collagenous vasculopathy (CCV) is a primary microangiopathy confined to the skin, characterized by multiple and widespread telangiectasias.


renal agenesis, rabbit

description: Renal agenesis that occurs in rabbit.


Alzheimer disease 11

description: An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1.


name: goniodysgenesis intellectual disability short stature


nonsyndromic genetic hearing loss

description: A disease characterized by hearing loss that is not part of a larger syndrome.


name: benign lymphoepithelial lesion of salivary gland

description: A benign lesion that involves the salivary glands, usually the parotid gland. It affects females more often than males and it may be a manifestation of autoimmune diseases such as Sjogren syndrome. There is an increased incidence of benign lymphoepithelial lesions in HIV-positive patients. It is characterized by the presence of a marked lymphocytic infiltrate and epi-myoepithelial islands in the affected salivary gland. Patients usually present with firm and painless swelling of the affected salivary gland. There is an increased risk for development of lymphoma.


neoplasm of mature T-cells or NK-cells

description: A group of neoplasms composed of T-lymphocytes with a mature (peripheral/post-thymic) immunophenotypic profile and/or NK-cells.


osteochondrosis, deer

description: Osteochondrosis that occurs in deer.


hereditary hyperekplexia

description: Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.


benign carotid body paraganglioma

description: A carotid body paraganglioma that is confined to the site of origin, without metastatic potential.


angiodysplasia

description: Acquired degenerative dilation or expansion (ectasia) of normal blood vessels, often associated with aging. They are isolated, tortuous, thin-walled vessels and sources of bleeding. They occur most often in mucosal capillaries of the gastrointestinal tract leading to gastrointestinal hemorrhage and anemia.


name: combined oxidative phosphorylation deficiency 54


juvenile idiopathic scoliosis

description: A scoliosis with no known cause arising in a juvenile.


name: inborn disorder of ornithine or proline metabolism


name: agammaglobulinemia 6, autosomal recessive

description: Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79B gene.


GAPO syndrome

description: A multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations


name: factor XIII deficiency, non-human animal

description: Factor XIII deficiency that occurs in non-human animals.


osteoarthritis, sea otter

description: Osteoarthritis that occurs in sea otter.


name: diaphragmatic agenesis radial aplasia omphalocele


name: microcephaly, growth deficiency, seizures, and brain malformations


Budd-Chiari syndrome, non-human animal

description: Budd-Chiari syndrome that occurs in non-human animals.


myeloid neoplasm

description: Proliferation of myeloid cells originating from a primitive stem cell.


necrotizing scleritis

description: A severe form of scleritis with subtypes: necrotising zonal granulomatous inflammation, diffuse non-granulomatous chronic inflammation, mixed pattern of acute purulent inflammation mixed with granulomatous inflammation and sarcoidal pattern.


name: congenital disorder of glycosylation, type 2v


Bartter disease type 2

description: Any Bartter syndrome in which the cause of the disease is a mutation in the KCNJ1 gene.


acquired polycythemia

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


name: intellectual disability, autosomal recessive 25


brain-lung-thyroid syndrome

description: Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC).


omphalocele, horse

description: Omphalocele that occurs in horse.


Horner syndrome, dog

description: Horner syndrome that occurs in dog.


drug-induced akathisia

description: An uncomfortable feeling of inner restlessness and inability to stay still. It can be a side effect of psychotropic medications.


porphyria

description: Porphyria is a group of diseases in which substances called porphyrins build up, negatively affecting the skin or nervous system. Most types are inherited, but porphyria cutanea tarda may also be due to increased iron in the liver, hepatitis C, alcohol, or HIV/AIDS.


intrinsic asthma

description: An asthma that is triggered by factors not related to allergies such as anxiety, stress, exercise, cold air, dry air, hyperventilation, smoke, viruses, chemical irritants, autonomic imbalance, hormonal deficiencies and psychogenic influences. It is characterized by airway obstruction and inflammation that is at least partially reversible with medication. The symptoms include coughing, wheezing, shortness of breath or rapid breathing, and chest tightness.


eye adnexa disorder

description: A disease involving the ocular adnexa.


tick paralysis

description: Paralysis caused by a neurotropic toxin secreted by the salivary glands of ticks.


name: inborn disorder of pyridoxine metabolism

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


name: melanoma, cutaneous malignant, susceptibility to, 7


name: dyskinesia with orofacial involvement, autosomal dominant

description: A rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness.


ring chromosome 16

description: Ring chromosome 16 is characterized bypostnatal growthdeficiency, intellectual disability, microcephaly, broad flat nasal bridge, down-turned mouth, low-set and dysmorphic (abnormally-shaped) ears and speech delay.To date, less than 10 cases have been reported in the medical literature.


name: congenital disorder of glycosylation, type iit


name: developmental and epileptic encephalopathy, 14

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNT1 gene.


Volkmann contracture

description: An ischemic contracture of the forearm that most often occurs secondary to trauma.


name: cortical dysplasia, complex, with other brain malformations 10


diabetes insipidus, chicken

description: Diabetes insipidus that occurs in chicken.


infectious discitis

description: An infection of the intervertebral disk space.


name: hyperphosphatasia with intellectual disability syndrome 1

description: Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGV gene.


autosomal dominant optic atrophy

description: An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss.


bilateral retinoblastoma

description: Retinoblastoma involving both eyes. This occurs in the majority of patients with the inherited variant. A minority of patient with bilateral retinoblastoma were found to have involvement of the pineal gland as well.


frontal fibrosing alopecia

description: Frontal fibrosing alopecia (FFA) is a rare variant of lichen planopilaris characterized by symmetrical, progressive, band-like anterior hair loss of the scalp.


glossopharyngeal nerve disorder

description: A disease involving the glossopharyngeal nerve.


name: congenital absence of both forearm and hand, bilateral

description: Congenital absence of both forearm and hand, bilateral is a rare developmental defect during embryogenesis characterized by a bilateral, transverse absence of the radius and ulna (of varying terminal lengths), as well as all the elements composing the hand.


grade III meningioma

description: A malignant meningioma with aggressive clinical course. It recurs in approximately 50-78% of the cases. This category includes the anaplastic (malignant) meningioma, papillary meningioma, and rhabdoid meningioma.


name: Friedreich ataxia with retained reflexes


trisomy 17p

description: Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features.


patent ductus arteriosus 3

description: Any patent ductus arteriosus in which the cause of the disease is a mutation in the PRDM6 gene.


name: familial hemophagocytic lymphohistiocytosis 3

description: Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the UNC13D gene.


Desulfovibrionaceae infectious disease

description: Infections with bacteria of the family Desulfovibrionaceae.


neuroaxonal dystrophy

description: A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)


name: glossopalatine ankylosis micrognathia ear anomalies


fibrocartilaginous embolism

description: Fibrocartilaginous embolism (FCE) is a rare type of embolism (sudden blocking of an artery) that occurs in the spinal cord. FCE occurs when materials that are usually found within the vertebral disk of the spine enter into the nearby vascular system (veins and arteries) and block one of the spinal cord vessels. The signs and symptoms of FCE often develop after a minor or even unnoticed btriggering eventb such as lifting, straining, or falling. Symptoms of FCE may include neck and/or back pain, progressive muscle weakness, and paralysis.The exact underlying cause of FCE is poorly understood. Most cases occur sporadically in people with no family history of the disease. Diagnosis is based on imaging of the spinal cord and ruling out other causes of a blockage of the vascular system within the spinal cord. Treatment is generally focused on preventing possible complications and improving quality of life with medications and physical therapy.


name: intellectual disability, autosomal dominant 6

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN2B gene.


name: developmental and epileptic encephalopathy, 55