name: persistent left superior vena cava connecting to the left-sided atrium

description: Persistent left superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by a persistent left superior vena cava which drains directly to the left atrium, without passing through the coronary sinus (that may be absent in some cases). Patients are usually asymptomatic and discovered incidentally, however hypoxia, cyanosis, murmurs, palpitations, cardiac structural anomalies (e.g. atrial septal defect, bicuspid aortic valve, cor triatrium) and risk of paradoxical embolization may be associated.


mouth mucosa disorder, non-human animal

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

description: Mouth mucosa disorder that occurs in non-human animals.


ovarian dysgenesis 2

description: Any primary ovarian failure in which the cause of the disease is a mutation in the BMP15 gene.


name: atypical hemolytic-uremic syndrome with C3 anomaly


tracheal lymphoma

description: A rare lymphoma that arises from the trachea. Signs and symptoms include dyspnea, cough, wheezing, and stridor.


name: skin disease caused by bacterial infection, non-human animal


name: Wiskott-Aldrich syndrome, autosomal dominant form


laryngeal granuloma

description: A tumor-like nodule or mass of inflammatory granulation tissue projecting into the lumen of the LARYNX.


name: congenital heart disease radio ulnar synostosis intellectual disability


name: hyper-IgE recurrent infection syndrome 5, autosomal recessive


testis rhabdomyosarcoma

description: A malignant mesenchymal tumor with skeletal muscle differentiation affecting the testis.


thrombotic disease

description: The formation of a blood clot in the lumen of a vessel or heart chamber; causes include coagulation disorders and vascular endothelial injury.


name: chemodectoma, intraabdominal, with cutaneous angiolipomas


glycogen storage disease I

description: Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b, and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver.


intravenous leiomyomatosis

description: A rare benign neoplasm characterized by the presence of smooth muscle cells growing within veins.


name: non-specific autoimmune brainstem encephalitis without characteristic antibodies


name: mitochondrial complex III deficiency nuclear type 3

description: Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRB gene.


basilar artery occlusion

description: Evidence of occlusion and stenosis of basilar artery.


name: epiphyseal dysplasia-hearing loss-dysmorphism syndrome

description: Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (incl. epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (incl. abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992.


testicular trophoblastic tumor

description: A tumor that arises from the testis and is composed of neoplastic trophoblastic cells. The vast majority of cases are choriocarcinomas.


ASAH1-related disorders

description: The spectrum of ASAH1-related disorders ranges from Farber disease (FD) to spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). The diagnosis of an ASAH1-related disorder is established in a proband with suggestive clinical findings by identification of biallelic pathogenic variants in ASAH1 and/or decreased activity of the enzyme acid ceramidase in peripheral blood leukocytes or cultured skin fibroblasts.


ptosis-vocal cord paralysis syndrome

description: Ptosis-vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983.


cannabinoid hyperemesis syndrome

description: A syndrome of cyclic vomiting associated with cannabis use. Fourteen diagnostic characteristics have been identified, and the frequency of major characteristics is as follows: history of regular cannabis for any duration of time (100%), cyclic nausea and vomiting (100%), resolution of symptoms after stopping cannabis (96.8%), compulsive hot baths with symptom relief (92.3%), male predominance (72.9%), abdominal pain (85.1%), and at least weekly cannabis use (97.4%). Supportive care with intravenous fluids, dopamine antagonists, topical capsaicin cream, and avoidance of narcotic medications has shown some benefit in the acute setting. Cannabis cessation appears to be the best treatment.


name: well differentiated papillary mesothelioma

description: A localized or multifocal mesothelioma arising from the peritoneum and less often the pleura. Cases arising from the peritoneum predominantly occur in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to malignant mesothelioma.


Plummer disease

description: Nodular enlargement of the thyroid gland associated with hyperthyroidism.


HBA1-related alpha thalassemia spectrum

description: Mild microcytic anemia caused by biallelic variation in the HBA1 gene.


malignant tumor of neck

description: A cancer that involves the neck.


deficiency of adenosine deaminase 2

description: Any disease or disorder in which the cause of the disease is a mutation in the ADA2 gene.


name: acute myeloid leukemia, KIT exon 17 mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly KIT exon 17 mutation. (A molecular genetic abnormality indicating the presence of a mutation in exon 17 of the KIT gene located within 4q11-q12.)


acrodermatitis enteropathica, dog

description: Acrodermatitis enteropathica that occurs in dog.


urogenital tuberculosis

description: A general term for mycobacterium infections of any part of the urogenital system in either the male or the female.


name: spastic paraplegia-glaucoma-intellectual disability syndrome

description: Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive.


name: internal carotid artery, spontaneous dissection of


immune epilepsy

description: Epilepsies that have a distinct immune-mediated etiology with evidence of central nervous system inflammation, that has been demonstrated to be associated with a substantially increased risk of developing epilepsy.


name: familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome


papillary conjunctivitis

description: Conjunctivitis that is characterized by the formation of papillae on the palpebral conjunctiva.


name: EBV-positive T-cell lymphoproliferative disorder of childhood

description: An Epstein-Barr virus-associated mature T-cell lymphoproliferative group of disorders affecting children. It occurs with increased frequency in Asians and Native Americans. It includes the systemic EBV-positive T-cell lymphoma of childhood and the hydroa vacciniforme-like lymphoma.


junctional epidermolysis bullosa

description: Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation.


Hoyeraal-Hreidarsson syndrome

description: Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.


autosomal recessive omodysplasia

description: Autosomal recessive form of omodysplasia.


microphthalmia with limb anomalies

description: Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.


name: benign angiitis of the central nervous system

description: A central nervous system vasculitis that has a benign course, with acute onset of neurologic symptoms, usually in the form of severe headache and/or a focal neurologic event.


name: intellectual disability-myopathy-short stature-endocrine defect syndrome

description: Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985.


magnesium deficiency

description: A nutritional condition produced by a deficiency of magnesium in the diet, characterized by anorexia, nausea, vomiting, lethargy, and weakness. Symptoms are paresthesias, muscle cramps, irritability, decreased attention span, and mental confusion, possibly requiring months to appear. Deficiency of body magnesium can exist even when serum values are normal. In addition, magnesium deficiency may be organ-selective, since certain tissues become deficient before others. (Harrison's Principles of Internal Medicine, 12th ed, p1936)


pachyonychia congenita 2

description: Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT17 gene.


synovial chondromatosis

description: Synovial chondromatosis is a type of non-cancerous tumor that arises in the lining of a joint. The knee is most commonly affected, however it can affect any joint. The tumors begin as small nodules of cartilage. These nodules can separate and become loose within the joint. Some tumors may be no larger than a grain of rice. Synovial chondromatosis most commonly occurs in adults ages 20 to 50. Signs and symptoms may include pain, swelling, a decreased range of motion, and locking of the joint. The exact underlying cause of the condition is unknown. Treatment may involve surgery to remove the tumor. Recurrence of the condition is common.


opportunistic mycosis

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


cataract 21 multiple types

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


name: integumentary system disorder, non-human animal

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


name: anemia, congenital dyserythropoietic, type 1a


Cowden syndrome 4

description: Any Cowden disease in which the cause of the disease is a mutation in the KLLN gene.


Usher syndrome type 3B

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


infectious encephalitis

description: An acute infectious process that affects the brain tissue. It is usually caused by viruses and less often by bacteria, parasites, and fungi.


name: Greig cephalopolysyndactyly-contiguous gene syndrome


name: auditory neuropathy, autosomal dominant 2


lysosomal storage disease, domestic cat

description: Lysosomal storage disease that occurs in domestic cat.


autosomal recessive Alport syndrome

description: Autosomal recessive Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance. About15 percentof Alport syndrome cases are inherited in an autosomal recessive pattern and are caused bymutations in both copies of the COL4A3 or COL4A4 genes. Treatment is based on the symptoms present and may include medications to delay the progression of kidney disease. In most cases, a kidney transplant is eventually needed.


name: pulmonic stenosis and congenital nephrosis


spermatogenic failure 3

description: Any azoospermia in which the cause of the disease is a mutation in the SLC26A8 gene.


myoclonus, horse

description: Myoclonus that occurs in horse.


name: hereditary cryohydrocytosis with reduced stomatin


cerebellar-facial-dental syndrome

description: A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has material basis in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32.


name: multiple congenital anomalies/dysmorphic syndrome without intellectual disability


pancreatic cancer, susceptibility to, 2

description: Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA2 gene.


hyperdibasic aminoaciduria type 1

description: Hyperdibasic aminoaciduria, type 1 is characterized by increased renal clearance of lysine, ornithine and arginine, in the presence of normal concentrations of cystine. Heterozygous individuals are asymptomatic but homozygotes display intellectual deficit. To date, 25 heterozygotes and one homozygote have been reported.


hypertrichosis lanuginosa congenita

description: Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes.


name: epidermolysis bullosa simplex superficialis

description: Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized or acral superficial erosions in the absence of blisters.


peripheral nervous system cancer

description: Malignant growth of cells in the peripheral nervous system (PNS)or Autonomic Nervous System (ANS), without specification as to location


renal dysplasia

description: Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral, segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia.


hereditary spastic paraplegia 50

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4M1 gene.


name: developmental and epileptic encephalopathy, 44

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the UBA5 gene.


name: blepharophimosis-ptosis-epicanthus inversus syndrome type 2


hemorrhagic disease of newborn

description: A condition characterized as a coagulation disturbance in newborns due to vitamin K deficiency resulting in impaired production of coagulation factors II, VII, IX, and X, and proteins C and S by the liver.


name: T-cell immunodeficiency, congenital alopecia, and nail dystrophy

description: A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has material basis in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12.


urachus cancer

description: A malignant neoplasm involving the urachus.


choanal atresia, alpaca

description: Choanal atresia that occurs in alpaca.


name: ectodermal dysplasia-cutaneous syndactyly syndrome


myoclonus-dystonia syndrome

description: Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks.


loiasis

description: Loiasis is a form of filariasis (see this term), caused by the parasitic worm Loa loa, endemic to the forest and savannah regions of Central and Western Africa. Loiasis may either be asymptomatic or manifest as a large, transient area of localized, non-erythematous subcutaneous edema (Calabar swellings), adult worm migration through the sub-conjunctiva (''African eye worm'') and pruritus. Generalized itching, hives, muscle pains, arthralgias, fatigue, and adult worms visibly migrating under the surface of the skin may be observed. Severe complications such as encephalopathy have been reported in highly infected individuals receiving ivermectin during mass drug administration programs for the control of onchocerciasis and lymphatic filariasis.


name: distal hereditary motor neuropathy type 2


pediatric Castleman disease

description: Pediatric Castleman disease (PCD) is a form of Castleman disease (CD) with a predominant occurrence in teenagers which is either asymptomatic or manifest by systemic (such as fever, anemia, fatigue and failure to thrive) or compressive symptoms.


postencephalitic Parkinson disease

description: A disease believed to be caused by a viral illness that triggers degeneration of the nerve cells in the substantia nigra. Overall, this degeneration leads to clinical parkinsonism.


ATP6AP2-related disorder

description: Variants in the gene ATP6AP2 have been associated with a multitude of diseases, including X-linked syndromic ID Hedera type, X-linked Parkinsonism-spasticity syndrome, and congenital disorder of glycosylation type 2R. Phenotypes include global developmental delay, intellectual disability, progressive neurologic decline, spasticity, seizures, infantile onset of liver failure, recurrent infections, dysmorphic features, and features of parkinsonism (rigidity, resting tremor, bradykinesia). These phenotypes do not appear in all individuals with one of the above disease assertions, but many are overlapping phenotypes.


cerebral palsy, spastic quadriplegic, 3

description: Any spastic quadriplegia in which the cause of the disease is a mutation in the ADD3 gene.


name: neuronopathy, distal hereditary motor, autosomal recessive 5

description: Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared.


name: pulmonary hypertension, non-human animal

description: Pulmonary hypertension that occurs in non-human animals.


cough variant asthma

description: An asthma that is characterized by chronic nonproductive cough without shortness of breath.


feline neoplasm

description: Neoplasm that occurs in a cat.


chronic childhood arthritis

description: An older, deprecated term that encompassed three major types of autoimmune or autoinflammatory arthritis in children: systemic-onset, pauciarticular, or polyarticular arthritis. The juvenile rheumatoid arthritis classification system has been replaced by the International League of Associations for Rheumatology (ILAR) juvenile idiopathic arthritis classification system.


heart-hand syndrome, Slovenian type

description: A rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.


asphyxiating thoracic dystrophy 5

description: Any Jeune syndrome in which the cause of the disease is a mutation in the WDR19 gene.


name: partial deletion of the short arm of chromosome 11


name: oocyte/zygote/embryo maturation arrest 17


name: disorder of vitamin and non-protein cofactor absorption and transport


description: This syndrome is characterized by severe intellectual deficit, kyphosis with onset in childhood and cataract with onset in late adolescence.


autoimmune autonomic ganglionopathy

description: A rare variant of Guillain-Barré syndrome characterized by acute post-ganglionic sympathetic and parasympathetic failure presenting several weeks after acute infection with gastrointestinal symptoms (abdominal pain, vomiting, constipation, diarrhea, gastroparesis, ileus), orthostatic hypotension, erectile dysfunction, urinary frequency, urgency or retention, vasomotor instability with acrocyanosis and reduced salivation, lacrimation and sweating.


name: combined oxidative phosphorylation defect type 20

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the VARS2 gene.


retina neoplasm

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


name: hereditary sclerosing poikiloderma, Weary type


name: immunodeficiency 74, COVID-19-related, X-linked


thyroid ectopia

description: Thyroid ectopia is a form of thyroid dysgenesis characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.


name: drug- or toxin-induced pulmonary arterial hypertension

description: Drug- or toxin-induced pulmonary arterial hypertension (PAH) is a form of pulmonary arterial hypertension (PAH) secondary to the exposition to drugs. Drug- or toxin-induced PAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. Drug or toxin induced PAH is progressive and potentially fatal.


name: glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form


name: microcornea-glaucoma-absent frontal sinuses syndrome

description: Microcornea-glaucoma-absent frontal sinuses syndrome is characterized by microcornea, glaucoma and absent frontal sinuses. Less 10 cases have been described so far. The mode of transmission appears to be autosomal dominant.


name: neuronopathy, distal hereditary motor, autosomal recessive 9


pontocerebellar hypoplasia type 1B

description: Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the EXOSC3 gene.


name: Ehlers-Danlos syndrome, Beasley-Cohen type


infancy electroclinical syndrome

description: An electroclinical syndrome with onset in infancy occurring between birth and one year of age.


name: partial deletion of the long arm of chromosome 19


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

description: Autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMD2Y) is a form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy.


description: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic.


ventricular septal defect, domestic cat

description: Ventricular septal defect that occurs in domestic cat.


name: craniodiaphyseal dysplasia, autosomal dominant


mitochondrial DNA depletion syndrome 11

description: Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.


IMPG2-related recessive retinopathy

description: Any retinopathy caused by bi-allelic variants in the IMPG2 gene.


mycetoma

description: Mycetomas are subcutaneous inflammatory pseudotumors containing fungal or actinomycetic (bacteria with branched filaments) granules or grains.


name: neurodevelopmental disorder with microcephaly, short stature, and speech delay


name: dwarfism, proportionate, with hip dislocation


name: partial deletion of the long arm of chromosome 13

description: A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 13.


Astley-Kendall dysplasia

description: Astley-Kendall dysplasia is a lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases.


name: Okihiro syndrome due to 20q13 microdeletion


cerebellar liponeurocytoma

description: A rare, WHO grade II cerebellar neoplasm which shows consistent neuronal, variable astrocytic and focal lipomatous differentiation. It occurs in adults, has a low proliferative potential and usually has a favorable prognosis. (Adapted from WHO)


description: Odonto-tricho-ungual-digito-palmar syndrome is characterized by neonatal teeth, trichodystrophy and malformations of the hands and feet. To date, it has been reported in 21 patients and is transmitted as an autosomal dominant trait.


name: cystic leukoencephalopathy without megalencephaly

description: Cystic leukoencephalopathy without megalencephaly is characterized by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive.


name: spinocerebellar ataxia, autosomal recessive 30


chromosome 3 disorder

description: Chromosomal disorder in which chromosome 3 is affected.


mesenchymal cell neoplasm

description: A benign, intermediate, or malignant neoplasm that arises from the mesenchyma-derived cells of the soft tissue or bone. Representative examples include lipoma, leiomyoma, leiomyosarcoma and osteosarcoma.


calcium metabolic disease

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


hypomyelinating leukodystrophy 3

description: Any leukodystrophy in which the cause of the disease is a mutation in the AIMP1 gene.


superficial siderosis

description: Superficial siderosis is a rare neurologic disease characterized by progressive sensorineural hearing loss, cerebellar ataxia, pyramidal signs, and neuroimaging findings revealing hemosiderin deposits in the spinal and cranial leptomeninges and subpial layer. The disease progresses slowly and patients may present with mild cognitive impairment, nystagmus, dysmetria, spasticity, dysdiadochokinesia, dysarthria, hyperreflexia, and Babinski signs. Additional features reported include dementia, urinary incontinence, anosmia, ageusia, and anisocoria.


atrial septal defect 8

description: Any atrial heart septal defect in which the cause of the disease is a mutation in the CITED2 gene.


name: partial trisomy of the long arm of chromosome 16


inflammation of heart layer

description: An inflammatory disease involving a pathogenic inflammatory response in the heart layer.


name: diabetes insipidus, nephrogenic, X-linked


anterior cerebral artery infarction

description: Necrosis occurring in the anterior cerebral artery system, including branches such as Heubner's artery. These arteries supply blood to the medial and superior parts of the cerebral hemisphere, Infarction in the anterior cerebral artery usually results in sensory and motor impairment in the lower body.


cryptorchidism, pig

description: Cryptorchidism that occurs in pig.


name: parkinsonism with dementia of Guadeloupe

description: Parkinsonism with dementia of Guadeloupe is characterized by symmetrical bradykinesia, predominantly axial rigidity, postural instability with early falls and cognitive decline with prominent features of frontal lobe dysfunction.


name: hypermetabolism due to defect in mitochondria


benign neoplasm of gum

description: A benign neoplasm that involves the gingiva.


sitosterolemia

description: A rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes.


Stromme syndrome

description: An autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).


multi-infarct dementia

description: A common form of dementia caused by multiple cortical or subcortical cerebral infarctions.


name: facio digito genital syndrome recessive form


pityriasis rubra pilaris

description: A group of skin conditions that cause constant inflammation and scaling of the skin. People with PRP have reddish, scaly patches that may occur everywhere on the body, or only on certain areas. Some people with PRP also develop thickened skin on the underside of the hands and feet (palmoplantar keratoderma), various nail abnormalities, and/or thinning of the hair. There are several types of PRP classified by age when symptoms begin, body areas involved, and whether other conditions are present. This condition occurs in adults (adult onset PRP) as well as children (juvenile onset PRP).


cheilitis glandularis

description: Cheilitis glandularis (CG) is an uncommon chronic inflammatory disease of unknown origin characterized by macrocheilia and secretions of thick saliva from swollen labial minor salivary glands.


cardiovascular neoplasm

description: A benign or malignant neoplasm that affects the heart and/or vessels. Representative examples of benign neoplasms include atrial myxoma, hemangioma, and lymphangioma. Representative examples of malignant neoplasms include pericardial malignant mesothelioma and angiosarcoma.


lysosomal storage disease, kangaroo

description: Lysosomal storage disease that occurs in kangaroo.


Mazabraud syndrome

description: Mazabraud syndrome is a rare primary bone dysplasia characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia is usually multifocal, typically occurring in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported.


stromal sarcoma

description: A malignant neoplasm characterized by the presence of atypical mesenchymal-stromal cells. Representative examples include endometrial stromal sarcoma and prostate stromal sarcoma.


Hunter-McAlpine craniosynostosis

description: Hunter-McAlpine craniosynostosis is characterized by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter).


Lambert syndrome

description: Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit.


name: syndrome caused by partial chromosomal deletion

description: A chromosomal disorder consisting of the absence of a part of a chromosome.


onychomatricoma

description: A neoplasm involving a UBERON:0002283.


familial goiter, dog

description: Familial goiter that occurs in dog.


pneumonia of swine, mycoplasmal

description: A chronic, clinically mild, infectious pneumonia of pigs caused by mycoplasma hyopneumoniae. Ninety percent of swine herds worldwide are infected with this economically costly disease that primarily affects animals aged two to six months old. The disease can be associated with porcine respiratory disease complex. pasteurella multocida is often found as a secondary infection.


external hirudiniasis

description: The attachment of leeches to the skin. After the leeches drop off, bleeding may continue as a result of the action of hirudin. Bites may become infected or ulcerate.


overlap myositis

description: Overlap myositis (OM) is a form of idiopathic inflammatory myopathy (IIM) characterized by myositis with at least one clinical and/or autoantibody overlap feature.


name: dentin dysplasia-sclerotic bones syndrome

description: A rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977.


amyopathic dermatomyositis

description: A form of dermatomyositis characterized by the presence of typicalskin findingswithout muscle weakness.Some of the skinchanges that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. Pruritis and photosensitivity are common, as is scalp inflammation and thinning of the hair.While patients with amyopathic dermatomyositis should not have clinically evident muscle weakness, minor muscle abnormalities may be included.Fatigue is reported in at least 50% of patients. Some cases have beenassociated with internal malignancy and/or interstitial lung disease. Treatment may include sun avoidance, ample use of sunscreen, topical corticosteroids, antimalarial agents, methotrexate, mycophenolate mofetil, or intravenous (IV) immunoglobulin.


name: diarrhea, glucose-stimulated secretory, with common variable immunodeficiency


acute fatty liver of pregnancy

description: Acute fatty liver of pregnancy is a rare but severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterized by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy.


description: Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive.


indolent systemic mastocytosis

description: Indolent systemic mastocytosis (ISM) is a benign form of systemic mastocytosis (SM) characterized by an abnormal proliferation of mast cells either only in bone marrow or in numerous tissues.


bulbomembranous urethral cancer

description: A malignant neoplasm that affects the bulbomembranous part of the urethra.


paraneoplastic pemphigus

description: Pemphigus is a group of chronic autoimmune skin diseases characterized by blisters formation on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterized, of which paraneoplastic pemphigus is extremely rare.


X-linked Alport syndrome

description: X-linked form of Alport syndrome.


name: ichthyosis congenita with biliary atresia


Bacteroides infectious disease

description: Infections with bacteria of the genus bacteroides.


malignant hypertension

description: Severe hypertension that is characterized by rapid onset of extremely high blood pressure.


O'Sullivan-McLeod syndrome

description: O'Sullivan McLeod syndrome is a benign lower motor neuron disorder and a rare variant of monomelic amyotrophy (MA), characterized by an initial unilateral weakness in the intrinsic hand muscles that eventually spreads to the opposite limb (with an asymmetrical distribution) and that has a very slow progression of muscular atrophy over a 20 year period.


antisocial personality disorder

description: A disorder characterized by a pervasive pattern of disregard for and violation of the rights of others that is manifested in childhood or early adolescence. (adapted from DSM-IV)


syringomyelia, dog

description: Syringomyelia that occurs in dog.


name: atypical hemolytic uremic syndrome with complement gene abnormality


feline osteosarcoma

description: Osteosarcoma that occurs in a cat.


urinary tract obstruction

description: Blockage of the normal flow of contents of the urinary tract.


name: autosomal recessive spinocerebellar ataxia 7

description: Spinocerebellar ataxia autosomal recessive 7, also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia. Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties (dysarthria), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cerebellar atrophy). Of the few reported cases in the literature, some patients also had eye involvement that included nystagmus (in voluntary eye movements)and saccadic pursuit eye movements. Out of 5 affected siblings examined in a large Dutch family, 2 became wheelchair-dependent late in life. The severity of the symptoms varies from mild to severe. SCAR7 is caused by mutations in the TPP1 gene and is inherited in an autosomal recessive manner.


name: hematopoietic and lymphoid cell neoplasm

description: A neoplasm arising from hematopoietic cells found in the bone marrow, peripheral blood, lymph nodes and spleen (organs of the hematopoietic system). Hematopoietic cell neoplasms can also involve other anatomic sites (e.g. central nervous system, gastrointestinal tract), either by metastasis, direct tumor infiltration, or neoplastic transformation of extranodal lymphoid tissues. The commonest forms are the various types of leukemia, Hodgkin and non-Hodgkin lymphomas, myeloproliferative neoplasms, and myelodysplastic syndromes.


keratosis palmoplantaris striata 3

description: Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT1 gene.


cortical blindness

description: Visual impairment due to visual cortex dysfunction.


name: dyskeratosis congenita, autosomal recessive 8


mouth mucosa disorder

description: A disease or disorder that involves the mouth mucosa.


name: keratoconus and congenital hip dysplasia


meningovascular neurosyphilis

description: A tertiary neurosyphilis that results in inflammation located in arteries of the brain or located in arteries of spinal cord. The infection has symptom headache, has symptom neck stiffness, has symptom dizziness, has symptom behavioral abnormalities, has symptom poor concentration, has symptom memory loss, has symptom lassitude, has symptom insomnia, has symptom blurred vision, has symptom weakness and wasting of shoulder-girdle and arm muscles, has symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has symptom paralysis of the legs due to thrombosis of spinal arteries.


nephrotic syndrome, type 2

description: Any nephrotic syndrome in which the cause of the disease is a mutation in the NPHS2 gene.


name: maternal uniparental disomy of chromosome 4

description: Maternal uniparental disomy of chromosome 4 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.


choroid plexus neoplasm

description: An intraventricular papillary neoplasm that originates from the choroid plexus epithelium. It includes the choroid plexus papilloma, atypical choroid plexus papilloma, and choroid plexus carcinoma.


name: optic atrophy--spastic paraplegia syndrome


AL amyloidosis, domestic cat

description: AL amyloidosis that occurs in domestic cat.


familial adenomatous polyposis 1

description: Any attenuated familial adenomatous polyposis in which the cause of the disease is a mutation in the APC gene.


familial primary pulmonary hypoplasia

description: Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congential malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life.


retinitis pigmentosa 47

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


Charcot-Marie-Tooth disease type 1C

description: Any Charcot-Marie-Tooth disease type 1 in which the cause of the disease is a mutation in the LITAF gene.


name: acute necrotizing encephalopathy of childhood

description: Acute necrotizing encephalopathy of childhood is a rare neurologic disease characterized by a rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointesitnal infection (e.g. mycoplasma, influenza virus) in a previously healthy child. Brain MRI of patients reveals bilateral, multiple, symmetrical lesions predominantly observed in thalami and brainstem, but also in periventricular white matter and cerebellum in some cases.


petrositis

description: Inflammation of petrous bone.


name: Leber congenital amaurosis with early-onset deafness


Alphavirus infectious disease

description: Virus diseases caused by members of the alphavirus genus of the family togaviridae.


name: plasma clot retraction factor, deficiency of


von Willebrand disease type 2B

description: A subtype of type 2 VWD characterized by a bleeding disorder associated with an increase in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets. This anomaly results in spontaneous binding of high molecular weight VWF multimers to platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and the high molecular weight VWF multimers from the plasma.


foodborne botulism

description: Foodborne botulism is the most common form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis due to botulinum neurotoxins (BoNTs). It is caused by consumption of contaminated food containing BoNTs.


Wilson disease, non-human animal

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


name: myeloid neoplasm associated with PDGFRB rearrangement

description: A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRB gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic myelomonocytic leukemia with eosinophilia, chronic eosinophilic leukemia, atypical chronic myelogenous leukemia, juvenile myelomonocytic leukemia, myelodysplastic syndrome, acute myeloid leukemia or acute lymphoblastic leukemia. Patients usually present with anemia, leukocytosis, monocytosis, eosinophilia and/or splenomegaly, or systemic symptoms, such as fever, sweating and/or weight loss.


name: skeletal dysplasia-epilepsy-short stature syndrome

description: Skeletal dysplasia-epilepsy-short stature syndrome is characterized by moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. It has been described in seven patients. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait.


hyperglobulinemic purpura

description: Purplish or brownish red discoloration of the skin associated with increase in circulating polyclonal globulins, usually gamma-globulins. This syndrome often occurs on the legs of women aged 20 to 40 years.


name: immunodeficiency-centromeric instability-facial anomalies syndrome 4

description: Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the HELLS gene.


optic atrophy 2

description: A rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected.


name: laryngeal atresia, encephalocele, and limb deformities


Warburg micro syndrome

description: Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.


thyroid dyshormonogenesis 5

description: Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOXA2 gene.


name: congenital heart defects, dysmorphic facial features, and intellectual developmental disorder


chemotherapy-induced oral mucositis

description: Inflammation and ulceration of the oral mucosa as a result of chemotherapy treatment.


name: mandibuloacral dysplasia with type B lipodystrophy


name: peroxisome biogenesis disorder 1A (Zellweger)

description: An autosomal recessive condition caused by mutation(s) in the PEX1 gene, encoding peroxisome biogenesis factor 1. Peroxisome biogenesis disorder 1A manifests phenotypically as Zellweger syndrome.


orbital leiomyoma

description: Orbital leiomyoma is a rare benign smooth muscle tumor arising from the walls of orbital vessels characterized by its slow growth and well encapsulated nature. It is usually located in an extraconal position, commonly manifesting with painless proptosis. The tumor is composed of spindle cells arranged in a fibrous stroma rich in dilated sinusoidal capillaries. The nuclei of tumor cells are oval with blunted ends and there are no mitotic figures. Orbital leiomyoma when excised has excellent prognosis for vision and life. One case of orbital leiomyosarcoma that possibly represents sarcomatous change in an orbital leiomyoma following radiation treatment has been reported.


name: muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8


name: Gaucher ichthyosis restrictive dermopathy


neuronal ceroid lipofuscinosis 7

description: Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). CLN7-NCL is caused by changes (mutations) in the MFSD8 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.


name: intellectual disability, keratoconus, febrile seizures, and sinoatrial block


streptobacillary rat-bite fever

description: Streptobacillary rat-bite fever (RBF) is a systemic zoonosis caused by the aerobic gram-negative bacterium Streptobacillus moniliformis and is transmitted to humans through the bites and scratches of infected rats.


calcifying fibrous tumor

description: A benign well-circumscribed paucicellular lesion arising from the soft tissues. It is characterized by the presence of fibroblasts, lymphoplasmacytic infiltrates, collagenous stroma formation, psammoma bodies, and dystrophic calcifications.


dacryocystitis, non-human animal

description: Dacryocystitis that occurs in non-human animals.


name: neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities


localized osteosarcoma

description: A non-disseminated osteosarcoma.


name: congenital absence of the sternocleidomastoid muscle


low grade fibromyxoid sarcoma

description: A low grade, late-metastasizing variant of fibrosarcoma characterized by alternating fibrous and myxoid areas and a whorling growth pattern. The neoplastic cells have a spindle morphology, and lack hyperchromasia or significant nuclear atypia. Approximately 40% of cases show the focal presence of collagen rosettes. A t(7;16)(q33;p11) translocation has been identified in the majority of cases, associated with the presence of FUS-CREB3L2 fusion protein. Rare cases carry the t(11;16)(p11;p11) translocation which is associated with the presence of the FUS-CREB3L1 fusion protein.


dermatomycosis

description: Superficial infections of the skin or its appendages by any of various fungi.


hereditary spastic paraplegia 25

description: Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1.


name: epidermolytic hyperkeratosis 2B, autosomal recessive


name: intellectual developmental disorder, autosomal recessive 77


name: pancytopenia and occlusive vascular disease


name: multiple acyl-coa dehydrogenase deficiency, non-human animal

description: Multiple acyl-coa dehydrogenase deficiency that occurs in non-human animals.


latent syphilis

description: A stage of syphilis characterized by the serologic evidence of infection by Treponema pallidum without evidence of accompanying signs or symptoms related to the disease.


dyskeratosis congenita

description: Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.


name: congenital partial agenesis of pericardium

description: Congenital partial agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation mainly characterized by the partial absence of the left pericardium. It is occasionally associated with chest pain or dyspnea and is usually incidentally diagnosed during surgery or at autopsy. Herniation and strangulation of a portion of the heart through the pericardial foramen may occur, resulting in myocardial acute ischemia and possible sudden death. Right side pericardium involvement is rare.


name: cerebral amyloid angiopathy, domestic cat

description: Cerebral amyloid angiopathy that occurs in domestic cat.


inherited mitral valve disease

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


name: autosomal recessive nonsyndromic hearing loss 55

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.2.


necrobiotic xanthogranuloma

description: A cutaneous necrobiotic disorder characterized by firm, yellow plaques or nodules, often in a periorbital distribution. It is often accompanied by an elevated erythrocyte sedimentation rate; leukopenia; and monoclonal gammopathy (IgG-kappa type) and systemic involvement.


familial schizencephaly

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


name: autosomal recessive congenital ichthyosis 2

description: An autosomal recessive condition caused by mutation(s) in the ALOX12B gene, encoding arachidonate 12-lipoxygenase, 12R-type. It is characterized by dry, thickened, scaly skin.


faciocardiorenal syndrome

description: Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects.


tuberculoid leprosy

description: A principal or polar form of leprosy in which the skin lesions are few and are sharply demarcated. Peripheral nerve involvement is pronounced and may be severe. Unlike lepromatous leprosy (leprosy, lepromatous), the lepromin test is positive. Tuberculoid leprosy is rarely a source of infection to others.


pineal body neoplasm

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


narcissistic personality disorder

description: A disorder characterized by an enduring pattern of grandiose beliefs and arrogant behavior together with an overwhelming need for admiration and a lack of empathy for (and even exploitation of) others.


familial hemiplegic migraine

description: A migraine disorder characterized by individual and family history of aura that includes motor weakness.


name: intellectual disability, autosomal dominant 58


AA amyloidosis, sheep

description: AA amyloidosis that occurs in sheep.


ring chromosome 5

description: Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterized by a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (incl. microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges).


name: autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures

description: An autosomal dominant type of spinal muscular atrophy caused by mutation(s) in the BICD2 gene, encoding protein bicaudal D homolog 2.


name: intellectual disability, autosomal recessive 33


22q11.2 deletion syndrome

description: 22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.


name: ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome

description: Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development, and intellectual disability in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy, and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.


endosalpingiosis

description: A benign pathologic process characterized by the transformation of the mesothelium into fallopian tube epithelium. It occurs in the peritoneum and may affect the serosa surface of the uterus and the adnexa. It may be asymptomatic or present as pelvic pain.


humoral hypercalcemia of malignancy

description: Hypercalcemia generally develops as a late complication of malignancy; its appearance has grave prognostic significance. It remains unclear, however, whether death is associated with hypercalcemic crisis (uncontrolled or recurrent progressive hypercalcemia) or with advanced disease. Symptoms include central nervous system impairment such as delirium with prominent symptoms of personality change, cognitive dysfunction, disorientation, incoherent speech, and psychotic symptoms such as hallucinations and delusions, smooth muscle hypotonicity, and altered cardiovascular function.


pseudohypoparathyroidism type 1C

description: A rare type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO), but normal activity of the stimulatory protein G (Gs alpha).


name: oculoauriculovertebral spectrum with radial defects

description: Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported.


name: focal or multifocal malformations in neuronal migration


trisomy 4p

description: Trisomy 4p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 4, with a highly variable phenotype, typically characterized by pre- and postnatal growth delay, psychomotor developmental delay and craniofacial dysmorphism (microcephaly, prominent glabelle, hypertelorism, enlarged ears with abnormal helix and antihelix, bulbous nose with flat or depressed nasal bridge, long philtrum, retrognathia with pointed chin). Additional features include skeletal (rocker bottom feet, arachnodactyly, camptodactyly) and renal malformations, cardiac defects, ocular abnormalities and abnormal genitalia in males.


pentalogy of Cantrell

description: Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC.


name: optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome


Brugada syndrome 8

description: Any Brugada syndrome in which the cause of the disease is a mutation in the HCN4 gene.


uncombable hair syndrome 2

description: Any uncombable hair syndrome in which the cause of the disease is a mutation in the TGM3 gene.


leptomyelolipoma

description: Leptomyelolipoma is a rare neural tube closure defect characterized by an abnormally low lying conus which is tethered by a lumbosacral lipomatous mass (containing fatty tissue, nerve fibers, meningeal strands and fibrous bands) which engulfs the filum terminale and varying numbers of dorsal and ventral nerve root components, typically producing sensory, motor, bowel and/or bladder dysfunction. Cutaneous stigmata, absent or reduced reflexes and foot defomities (e.g. talipes cavovalgus) are frequently present.


Tay-Sachs disease

description: GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency.


canine pancreatic carcinoma

description: Pancreatic carcinoma that occurs in a dog.


blepharocheilodontic syndrome 2

description: Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CTNND1 gene.


primary ciliary dyskinesia 34

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAJB13 gene.


cone-rod dystrophy 9

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the ADAM9 gene.


keratitis, non-human animal

description: Keratitis that occurs in non-human animals.


peroxisome biogenesis disorder

description: Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD).


pontocerebellar hypoplasia

description: Pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described, generally inherited in an autosomal recessive pattern.


myopia 21, autosomal dominant

description: Any myopia (disease) in which the cause of the disease is a mutation in the ZNF644 gene.


favism

description: A condition associated with glucose-6-phosphate dehydrogenase deficiency, which is characterized by hemolysis.


acquired von willebrand syndrome

description: Acquired von Willebrand syndrome (AVWS) is a bleeding disorder marked by the same biological anomalies as those seen in hereditary von Willebrand disease (VWD) but which occurs in association with another underlying pathology, generally in elderly patients without any personal or family history of bleeding anomalies.


name: combined oxidative phosphorylation deficiency 48


hemophilia B, non-human animal

description: Hemophilia B that occurs in non-human animals.


vestibular gland benign neoplasm

description: A benign neoplasm that involves the vestibular gland.


name: chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase


name: tall stature-scoliosis-macrodactyly of the great toes syndrome

description: Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis.


benign neoplasm of salivary gland

description: A benign neoplasm that involves the saliva-secreting gland.


Jacobsen syndrome, non-human animal

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


central cloudy dystrophy of François

description: Central cloudy dystrophy of François is a very rare form of stromal corneal dystrophy characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision.


polycystic kidney disease, horse

description: Polycystic kidney disease that occurs in horse.


name: severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive

description: A rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia.


name: xeroderma pigmentosum-Cockayne syndrome complex

description: Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome (CS).


epidermolysis bullosa dystrophica

description: A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes.


tuberculous ascites

description: A type of abdominal tuberculosis that is characterized by accumulation of fluid in the abdomen, a swollen abdomen, and slightly raised tubercles of 1–2 mm all over the peritoneum.


idiopathic posterior uveitis

description: Idiopathic posterior uveitis is a rare, potentially sight-threatening, ocular disease, not attributed to any specific ocular or systemic cause, characterized by focal, multifocal or diffuse non-infectious inflammation in the posterior uvea (i.e. choroiditis, chorioretinitis, retinitis and neuroretinitis). Visual morbidity due to complications (including cystoid macular edema and choroidal neovascularization) has been reported.


name: Ehlers-Danlos syndrome, kyphoscoliotic type, 2

description: A form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.


benign neoplasm of trachea

description: A benign neoplasm that involves the trachea.


name: sulfite oxidase deficiency due to molybdenum cofactor deficiency type B


lice infestation

description: A contagious infestation of parasitic insects found on the head (Pediculus humanus capitis), body (Pediculus humanus corporis), or pubic area (Pthirus pubis) that typically cause itching and rash.


name: syndromic X-linked intellectual disability 94

description: A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has material basis in mutation in the GRIA3 gene on chromosome Xq25.


rumination disorder

description: Rumination disorder is the backward flow of recently eaten food from the stomach to the mouth. The food is then re-chewed and swallowed or spat out. A non-purposeful contraction of stomach muscles is involved in rumination. It may be initially triggered by a viral illness, emotional distress, or physical injury. In many cases, no underlying trigger is identified. Behavioral therapy is the mainstay of treatment.


name: infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome


osteoblastic osteosarcoma

description: A conventional osteosarcoma characterized by the predominance of osteoid matrix.


chronic meningitis

description: Chronic form of meningitis (disease).


intellectual disability, X-linked 1

description: An X-linked dominant condition caused by mutation(s) in the IQSEC2 gene, encoding IQ motif and SEC7 domain-containing protein 2. It is characterized by substantially impaired intellectual functioning and behavioral abnormalities.


hypophosphatasia

description: Hypophosphatasia (HPP) is a rare heritable metabolic disorder characterized by defective mineralization of bone and/or teeth in the presence of reduced activity of unfractionated serum alkaline phosphatase (ALP). The clinical spectrum is extremely wide, from stillbirth at one end to fractures of the lower extremities in adulthood, at the other, or even no bone manifestations (odontohypophosphatasia).


germ cell tumor

description: A benign or malignant, gonadal or extragonadal neoplasm that originates from germ cells. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor.


name: paternal uniparental disomy of chromosome 14


acrofacial dysostosis Rodriguez type

description: Acrofacial dysostosis Rodriguez type is a multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The mandibulofacial defect, characterized by extremely severe microretrognathism and cleft palate, causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction (absent thumbs). Other features include CNS malformations (agenesis of corpus callosum and acqueductal stenosis), lung anomalies (absent lung lobulation), complex cardiac malformations, and unicornis uterus. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth.


name: hypertrichosis-acromegaloid facial appearance syndrome

description: Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia, CantC9 type.


name: ciliary dyskinesia, primary, 36, X-linked

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the PIH1D3 gene.


description: A central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia).


name: hereditary motor and sensory neuropathy type 6


name: isolated focal cortical dysplasia type IIb


muscular dystrophy, turkey

description: Muscular dystrophy that occurs in turkey.


name: autosomal dominant nocturnal frontal lobe epilepsy 4

description: Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA2 gene.


Joubert syndrome 1

description: Any Joubert syndrome in which the cause of the disease is a mutation in the INPP5E gene.


Meckel syndrome, type 3

description: Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM67 gene.


childhood testicular germ cell tumor

description: A germ cell tumor that arises from the testis during childhood.


name: SCN4A-related myopathy, autosomal recessive

description: Any congenital myopathy in which the cause of the disease is a mutation in the SCN4A gene. It include is a spectrum of autosomal recessive disorders including congenital myasthenic syndrome, fetal hypokinesia, and congenital myopathy.


renal tuberculosis

description: Infection of the kidney due to mycobacteria.


name: deafness with anhidrotic ectodermal dysplasia


glomerulonephritis, dog

description: Glomerulonephritis that occurs in dog.


name: lethal congenital contracture syndrome 8

description: Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADCY6 gene.


name: neurodevelopmental disorder with dystonia and seizures


holoprosencephaly 6

description: A holoprosencephaly that has material basis in variation in the chromosome region 2q37.1-q37.3.


description: A rare acute encephalopathy with inflammation-mediated status epilepticus characterized by infancy-onset of refractory unilateral, mainly clonic status epilepticus during or shortly after a febrile episode without evidence of central nervous system infection, followed by permanent or transient hemiplegia with a minimum duration of one week. The majority of children develop pharmaco-resistant epilepsy a few months later. Brain imaging shows edematous swelling of the affected hemisphere at the time of the initial status, followed by hemiatrophy that does not correlate with any vascular territory.


name: X-linked complex neurodevelopmental disorder

description: A complex neurodevelopmental disorder that is transmitted via X-linked inheritance, and is characterized by intellectual disability, autism and epilepsy.


olecranon bursitis

description: A bursitis that involves the olecranon.


name: monosomy 7 myelodysplasia and leukemia syndrome 2


name: immunodeficiency-centromeric instability-facial anomalies syndrome

description: The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.


pyloric stenosis, domestic cat

description: Pyloric stenosis that occurs in domestic cat.


name: circadian rhythm sleep disorder, shift work type

description: A circadian sleep disorder that occurs when work schedules force people to be awake when their circadian rhythms dictate that they should be sleeping. It is classified as a Circadian Rhythm Disorder (CRD) and is extrinsic, i.e. caused by external behavioral factors.


name: epidermolysis bullosa, junctional 6, with pyloric atresia


name: autoinflammatory disease, multisystem, with immune dysregulation, X-linked


name: Huntington disease and related disorders

description: A grouping for Huntington disease and similar diseases.


obstetric disorder

description: Disorder associated with pregnancy, childbirth, and puerperium.


name: leukocyte nuclear appendages, hereditary prevalence of


hypospadias, cattle

description: Hypospadias that occurs in cattle.


name: dopa-responsive dystonia due to sepiapterin reductase deficiency

description: Dopa responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development.


Van den Ende-Gupta syndrome, dog

description: Van den Ende-Gupta syndrome that occurs in dog.


name: mitochondrial myopathy with a defect in mitochondrial-protein transport


name: intellectual disability-sparse hair-brachydactyly syndrome

description: Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.


polycystic kidney disease, lion

description: Polycystic kidney disease that occurs in lion.


name: childhood sarcoma with BCOR genetic alterations

description: A sarcoma with BCOR genetic alterations that occurs during childhood.


periprosthetic joint infection

description: A bacterial infection of the joint that is a complication occurring in 1% to 2% of primary arthroplasties.


cerebellar degeneration, domestic cat

description: Cerebellar degeneration that occurs in domestic cat.


platelet-type bleeding disorder 16

description: An inherited blood coagulation disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has material basis in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32.


name: mitochondrial complex II deficiency, nuclear type


myomatous neoplasm

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


epispadias

description: Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra.


connective tissue disorder

description: A disease involving the connective tissue.


name: glycogen storage disease due to glycogen branching enzyme deficiency

description: Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases.


peeling skin syndrome

description: Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS.


mesomelic dysplasia, Savarirayan type

description: Mesomelic dysplasia, Savarirayan type is characterized by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported.


name: hypogonadotropic hypogonadism 21 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FLRT3 gene.


name: myelodysplastic syndrome with excess blasts-1

description: A myelodysplastic syndrome defined by 5-9% blasts in the bone marrow, and <5% blasts in the blood. Approximately 25% of cases progress to an acute leukemia. (WHO)


Picornaviridae infectious disease

description: Virus diseases caused by the picornaviridae.


name: cold-induced sweating syndrome - hyperthermia spectrum


Fanconi anemia complementation group U

description: Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene.


ciliary body mixed cell melanoma

description: A mixed cell uveal melanoma that involves the ciliary body.


fetal akinesia deformation sequence 3

description: Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the DOK7 gene.


dissecting cellulitis of the scalp

description: Dissecting cellulitis of the scalp is a rare chronic suppurative dermatosis of the scalp that mainly affects black men and that is characterized by multiple painful inflammatory follicular and perifollicular nodules, pustules, and abscesses that interconnect via sinus tracts and eventually result in scarring alopecia.


name: lissencephaly and cerebellar hypoplasia, non-human animal

description: Lissencephaly and cerebellar hypoplasia that occurs in non-human animals.


erythrocytosis, familial, 3

description: Any familial polycythemia in which the cause of the disease is a mutation in the EGLN1 gene.


lupus erythematosus

description: An autoimmune, connective tissue chronic inflammatory disorder affecting the skin, joints, kidneys, lungs, heart, and the peripheral blood cells. It is more commonly seen in women than men. Variants include discoid and systemic lupus erythematosus.


disorder of peroxisomal alpha oxidation

description: Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisomal alpha oxidatiion.


phencyclidine abuse

description: The misuse of phencyclidine with associated psychological symptoms and impairment in social or occupational functioning.


retinitis pigmentosa 9

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP9 gene.


description: Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the AKT3 gene.


dysautonomia, horse

description: Dysautonomia that occurs in horse.


segmental dystonia

description: A dystonia that affects two or more adjacent parts of the body.


pythiosis

description: A granulomatous disease caused by the aquatic organism pythium insidiosum occurring rarely in humans. It is classified into three forms: ocular, cutaneous, and arterial.


name: hypophosphatemic rickets, autosomal recessive, 2

description: Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the ENPP1 gene.


anotia facial palsy cardiac defect

description: A syndrome characterized by anotia (congenital absence of the pinna) with a normal cochlea and vestibular apparatus, with facial paralysis caused by congenital absence of the entire right facial nerve, and congenital heart disease, which may present as atrioventricular septal defects or variations of tetralogy of Fallot.


description: This syndrome is characterized by variable spastic paraplegia, bilateral sensorineural deafness, intellectual deficit and progressive nephropathy.


Leber plus disease

description: Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations.


meningococcal meningitis

description: An acute bacterial disease caused by Neisseria meningitides that presents usually, but not always, with a rash (non blanching petechial or purpuric rash), progressively developing signs of meningitis (fever, vomiting, headache, photophobia, and neck stiffness) and later leading to confusion, delirium and drowsiness. Neck stiffness and photophobia are often absent in infants and young children who may manifest nonspecific signs such as irritability, inconsolable crying, poor feeding, and a bulging fontanel. Meningococcal meningitis may also present as part of early or late onset sepsis in neonates. The disease is potentially fatal. Surviving patients may develop neurological sequelae that include sensorineural hearing loss, seizures, spasticity, attention deficits and intellectual disability.


patent urachus, domestic cat

description: Patent urachus that occurs in domestic cat.


Krabbe disease, dog

description: Krabbe disease that occurs in dog.


SHORT syndrome

description: SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease.


cataract 27

description: A cataract that has material basis in mutation in the region 2p12.


neoplasm of minor salivary gland

description: A neoplasm (disease) that involves the minor salivary gland.


name: short stature-webbed neck-heart disease syndrome

description: Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin sibs born to consanguineous parents.


pituitary apoplexy

description: A rare, potentially life-threatening disorder caused by acute ischemic infarction or hemorrhage in the pituitary gland. It is most often associated with the presence of a pituitary gland adenoma. Signs and symptoms include headache, vomiting, visual disturbances, and endocrine dysfunction.


name: sporadic infantile bilateral striatal necrosis

description: Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.


tooth agenesis, selective, X-linked, 1

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


blepharoconjunctivitis

description: Inflammation of both the eyelids and the conjunctiva.


name: herpes simplex type 1 infectious disease

description: A disease caused by infection with herpes simplex type 1.


toxicodendron dermatitis

description: An allergic contact dermatitis caused by exposure to plants of the genus Toxicodendron (formerly Rhus). These include poison ivy, poison oak, and poison sumac, all plants that contain the substance urushiol, a potent skin sensitizing agent. (From Dorland, 27th ed)


vagus nerve neoplasm

description: A neoplasm involving a vagus nerve.


autosomal recessive osteopetrosis 1

description: Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TCIRG1 gene.


hypomyelinating leukodystrophy 4

description: Any leukodystrophy in which the cause of the disease is a mutation in the HSPD1 gene.


name: intellectual disability, autosomal dominant 51


balanitis xerotica obliterans

description: A chronic and progressive inflammatory process that affects the glans penis and the foreskin. It presents with white atrophic patches in the glans of penis and foreskin and it is often associated with the development of a sclerotic, whitish ring in the tip of the foreskin that may lead to phimosis. It is also known as lichen sclerosus of the penis.


hypervitaminosis A

description: A symptom complex resulting from ingesting excessive amounts of vitamin A.


name: X-linked intellectual disability-hypotonia-movement disorder syndrome


name: avascular necrosis of femoral head, primary, 2


pediatric lymphoma

description: A Hodgkin or non-Hodgkin lymphoma that occurs during childhood.


name: deafness, neural, with atypical atopic dermatitis


name: alopecia-intellectual disability syndrome 3


name: intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies


name: partial deletion of the short arm of chromosome 1

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


benign smooth muscle neoplasm

description: A benign mesenchymal neoplasm arising from smooth muscle tissue.


name: lethal congenital contracture syndrome 1

description: Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies.


name: microcephaly, macrotia, and intellectual disability


Pseudomonas aeruginosa CF5 infection

description: A Pseudomonas aeruginosa CF5 infection is a Pseudomonas infection of strain CF5.


congenital myopathy, dog

description: Congenital myopathy that occurs in dog.


laminopathy type Decaudain-Vigouroux

description: Laminopathy, type Decaudain-Vigouroux is characterized by severe metabolic alterations (insulin resistance or hyperinsulinaemia, hypertriglyceridaemia with low HDL-cholesterol, and altered glucose tolerance) and muscular hypertrophy, myalgia, or weakness.


description: Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects.


name: polyneuropathy-intellectual disability-acromicria-premature menopause syndrome

description: Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971.


description: Progressive cavitating leukoencephalopathy is characterized by acute episodes of neurological deficit (ataxia, dysarthria, seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability.


neuropathy, hereditary sensory, type 1D

description: A hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of a distal axonal sensory neuropathy that has material basis in heterozygous mutation in the ATL1 gene on chromosome 14q.


description: Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability.


name: acute myeloid leukemia, KIT exon 8 mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly KIT exon 8 mutation. (A molecular genetic abnormality indicating the presence of a mutation in exon 8 of the KIT gene located within 4q11-q12.)


familial temporal lobe epilepsy 7

description: A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has material basis in heterozygous mutation in the RELN gene on chromosome 7q22.


description: An inherited autosomal dominant trait characterized by abnormally elevated levels of total serum thyroxine; (T4) in euthyroid patients with abnormal serum albumin that binds T4 with enhanced affinity. The serum levels of free T4, free T3, and tsh are normal. It is one of several T4 abnormalities produced by non-thyroid disorder. This condition is due to mutations of the alb gene on chromosome 4.


neuroretinitis

description: Neuroretinitis is an inflammation of the neural retina and optic nerve. Pathology: Direct invasion or autoimmune activation against the optic nerve may cause optic nerve vascular inflammation with secondary inflammation and edema in the nerve fiber layer of the retina.


name: aortic arch anomaly-facial dysmorphism-intellectual disability syndrome

description: Aortic arch anomaly-peculiar facies-intellectual disability syndrome is a developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968.


isolated congenital anosmia

description: This syndrome is characterized by total or partial anosmia at birth. So far, 15 patients have been described. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. The mode of transmission appears to be autosomal dominant with incomplete penetrance. Isolated congenital anosmia is found in some parents of individuals with Kallman syndrome.


name: spastic paraplegia 81, autosomal recessive


name: ichthyosiform erythroderma, corneal involvement, and hearing loss


name: proteasome-associated autoinflammatory syndrome 2


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


acute necrotizing encephalitis

description: A fulminant and often fatal demyelinating disease of the brain which primarily affects young adults and children. Clinical features include the rapid onset of weakness, seizures, and coma. It may follow a viral illness or mycoplasma pneumoniae infections but in most instances there is no precipitating event. Pathologic examination reveals marked perivascular demyelination and necrosis of white matter with microhemorrhages. (Adams et al., Principles of Neurology, 6th ed, pp924-5)


seizures, benign familial infantile, 3

description: Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN2A gene.


name: SIN3A-related intellectual disability syndrome


name: unbalanced Robertsonian translocation Down syndrome

description: Robertsonian translocation Down syndrome in which translocation displacement of the end regions of chromosomes occurred with loss of chromosomal material between the two nonhomologous chromosomes.


spermatogenic failure 15

description: Any azoospermia in which the cause of the disease is a mutation in the SYCE1 gene.


benign sertoli cell tumor

description: A Sertoli cell tumor of the testis or the ovary which remains localized and does not metastasize to another anatomic site.


name: arthrogryposis multiplex congenita 1, neurogenic, with myelin defect


vulva fibroepithelial polyp

description: A polypoid lesion that arises from the vulva and is characterized by the presence of fibrovascular stroma lined by squamous epithelium. There is no evidence of epithelial atypia.


candidiasis, familial, 8

description: Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the TRAF3IP2 gene.


microphthalmia, Lenz type

description: A very rare X-linked inherited form of syndromic microphthalmia characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome.


herpes simplex virus keratitis

description: A superficial, epithelial Herpesvirus hominis infection of the cornea, characterized by the presence of small vesicles which may break down and coalesce to form dendritic ulcers (keratitis, dendritic). (Dictionary of Visual Science, 3d ed)


name: TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome

description: A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay or regression, variable congenital heart defects (such as patent ductus arteriosus, atrial or ventricular septal defects, and double outlet right ventricle, among others), and dysmorphic features (including ptosis, epicanthal folds, abnormally set/dysplastic ears, low hairline or excess nuchal skin, wide-spaced/inverted nipples, umbilical hernia or diastasis recti, and digital anomalies). Additional variable manifestations are hyper- or hypotonia, seizures, hearing loss, cortical blindness, and optic atrophy. Brain imaging may show cerebral and cerebellar atrophy and hydrocephalus.


astereognosia

description: An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight.


name: microcephaly sparse hair intellectual disability seizures


atrophic rhinitis

description: A chronic inflammation in which the nasal mucosa gradually changes from a functional to a non-functional lining without mucociliary clearance. It is often accompanied by degradation of the bony turbinates, and the foul-smelling mucus which forms a greenish crust (ozena).


microphthalmia, golden hamster

description: Microphthalmia that occurs in golden hamster.