hereditary neuromuscular disease

description: A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that is characterized by progressive muscle degeneration and weakness.


Joubert syndrome 14

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

description: Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM237 gene.


malignant urinary system neoplasm

description: A primary or metastatic malignant tumor involving the urinary system. Common tumor types include carcinomas, lymphomas, and sarcomas.


name: myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies


name: mitochondrial intermembrane space protein Tim12, yeast, homolog of


name: congenital disorder of glycosylation, type IIr


name: idiopathic macular telangiectasia type 1

description: A rare, acquired, eye disease characterized by unilateral (rarely bilateral) abnormally dilated and tortuous capillaries around the fovea, associated with multiple arteriolar and venular aneurysms, lipid depositions, and intra-retinal cystoid degeneration. It leads to vision loss due to macular edema with hard exudates.


acquired secondary polycythemia

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


myoclonus, familial

description: A rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most of cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent.


description: A rare genetic cerebral small vessel disease characterized by an adult-onset primary microangiopathy with severe atherosclerosis of arterioles and secondary leukoencephalopathy. Patients may present with migraine, transient ischemic attacks, stroke with central facial palsy, cognitive dysfunction with impaired concentration, dementia, depression, movement disorder, vertigo, dysphagia, dysarthria, sicca syndrome, impaired REM sleep, and therapy-resistant hypertension, among others. Brain MRI typically shows a leukoencephalopathy that is disproportionately severe and extensive compared to the clinical disease.


pinnae fistula or cyst

description: Pinnae fistula or cyst is a rare otorhinolaryngological malformation characterized by the presence of a, usually unilateral, sinus tract or cyst located in the vicinity of the auricle (most frequently identified by a small pit near the anterior margin of the first ascending portion of the helix). Typically, patients are asymptomatic and usually only present symptoms (pain, erythema, discharge from pit) in relation to infection. Renal and inner ear anomalies may be associated.


nervous system injury

description: Traumatic injuries to the brain, cranial nerves, spinal cord, autonomic nervous system, or neuromuscular system, including iatrogenic injuries induced by surgical procedures.


name: isolated growth hormone deficiency type II


endocrine gland neoplasm

description: A benign or malignant neoplasm arising from the epithelial cells of an endocrine organ. Representative examples include pituitary gland adenoma, pituitary gland carcinoma, thyroid gland carcinoma, carcinoid tumor, and neuroendocrine carcinoma.


name: Erysipelothrix rhusiopathiae infectious disease

description: A disease caused by infection with Erysipelothrix rhusiopathiae.


parasitemia

description: The presence of parasites (especially malarial parasites) in the blood. (Dorland, 27th ed)


ataxia with oculomotor apraxia type 3

description: An autosomal recessive cerebellar ataxia caused by mutation(s) in the PIK3R5 gene, encoding phosphoinositide 3-kinase regulatory subunit 5. It is characterized by oculomotor apraxia and distal muscle atrophy and weakness, predominantly affecting the lower limbs.


name: muscular dystrophy, progressive Pectorodorsal


description: A rare primary lymphedema characterized by extensive, multisegmental lymphedema, associated with persistent, widespread infections with various genital high- and low-risk human papillomaviruses, resulting in multifocal anogenital dysplasia. Laboratory examination shows abnormalities in lymphocyte subsets, in particular CD4+ T-cells. Epidermal nevi and capillary malformations have also been reported.


name: polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1


hyperparathyroidism, domestic cat

description: Hyperparathyroidism that occurs in domestic cat.


name: flat face-microstomia-ear anomaly syndrome

description: Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994.


Peptostreptococcus infectious disease

description: A disease caused by infection with Peptostreptococcus.


serositis, non-human animal

description: Serositis that occurs in non-human animals.


name: short stature-heart defect-craniofacial anomalies syndrome


opportunistic systemic mycosis

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


Coffin-Siris syndrome 5

description: Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCE1 gene.


benign neoplasm of nasal cavity

description: A benign neoplasm that involves the nasal cavity.


pseudotyphus of California

description: Pseudotyphus of California is a rare, flea-borne Rickettsial disease caused by a Rickettsia felis infection. Patients can be asymptomatic or can present with unspecific symptoms (such as fever, headache, generalized maculopapular rash, myalgia, arthralgia and, occasionally, eschar. lymphadenopathy, nausea, vomiting, loss of appetite and abdominal pain. Rarely, serious manifestations may occur and include neurological dysfunction (photophobia, hearing loss, and signs of meningitis) and pulmonary compromise.


urolithiasis, domestic ferret

description: Urolithiasis that occurs in domestic ferret.


name: autosomal recessive nonsyndromic hearing loss 46

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 18p11.32-p11.31.


name: DYRK1A-related intellectual disability syndrome

description: An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13.


hyper-IgM syndrome type 5

description: Any hyper-IgM syndrome in which the cause of the disease is a mutation in the UNG gene.


moderately severe hemophilia B

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


name: obesity due to leptin receptor gene deficiency

description: Deficiency or dysfunction of the leptin receptor associated with loss-of-function mutation(s) in the LEPR gene.


chromosome 6pter-p24 deletion syndrome

description: Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.


PANDAS

description: PANDAS is an acronym for Pediatric Autoimmune Neuropsychiatric Disorders Associated with a group A beta-hemolytic Streptococcal infection and applied to a subgroup of children with obsessive-compulsive disorder (OCD) and/or tic disorders.


immunodeficiency 102

description: An X-linked recessive immunologic disorder characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias. Affected individuals have bacterial, viral, and fungal infections, as well as hemolytic anemia, thrombocytopenia, lymphopenia, and decreased NK cells. Laboratory studies show defective T-cell proliferation and function, likely due to signaling abnormalities. The disorder may also manifest as a hyperinflammatory state with immune dysregulation.


name: tumoral calcinosis, hyperphosphatemic, familial, 3


immunodeficiency 88

description: An autosomal recessive immune disorder characterized specifically by the development of disseminated mycobacterial disease following vaccination with BCG. The single patient described did not develop other clinical infectious diseases, although serology documented exposure to various viruses and bacteria. Immunologic workup shows defective development of certain innate immunologic cells and decreased production of gamma-interferon (IFNG). Additional manifestations include persistent reactive airway disease associated with increased production of Th2 cytokines.


non-verbal learning disability

description: A neurodevelopmental disorder characterized by core deficits in visual-spatial processing and a significant discrepancy between verbal and nonverbal intelligence (where verbal intelligence is higher).


name: intellectual developmental disorder, X-linked 108


name: premalignant hematological system disease

description: A hematologic disorder which does not display the morphologic and/or clinical characteristics of an overt malignancy. Representative examples include atypical lymphoproliferative disorders and myelodysplastic syndromes.


name: Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type


name: light and heavy chain deposition disease

description: A subtype of monoclonal immunoglobulin deposition disease in which heavy and light chains deposition results in non-amyloid tissue deposits which may cause organ dysfunction.


name: CACNA1A-related complex neurodevelopmental disorder

description: A progressive complex neurodevelopmental condition caused by variants in the CACNA1A gene. Phenotypic onset (usually) occurs around age 1 and most often includes intellectual disability but can also include epileptic encephalopathy, benign paroxysmal torticollis of infancy and paroxysmal tonic upgaze psychomotor delay, learning difficulties, absence epilepsy, episodic ataxia, and hemiplegic migraines.


name: agammaglobulinemia 8, autosomal dominant

description: Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the TCF3 gene.


X-linked endothelial corneal dystrophy

description: X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients.


urolithiasis, dog

description: Urolithiasis that occurs in dog.


eye lymphoma

description: A lymphoma that involves the eye.


Prader-Willi-like syndrome

description: Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) occurring in the absence of 15q11-q13 genomic abnormalities.


entropion, horse

description: Entropion that occurs in horse.


Alzheimer disease 14

description: An Alzheimer's disease that is characterized by an associated with variation in the region 1q25.


cleft palate, non-human animal

description: Cleft palate that occurs in non-human animals.


patterned macular dystrophy

description: A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped.


name: developmental delay, impaired speech, and behavioral abnormalities, with or without seizures


otopalatodigital syndrome

description: A form of frontootopalatodigital syndrome, characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders.


retinitis pigmentosa 24

description: A retinitis pigmentosa that has material basis in variation in the chromosome region Xq26-q27.


situs inversus, horse

description: Situs inversus that occurs in horse.


amyotrophic lateral sclerosis type 1

description: An inherited form of amyotrophic lateral sclerosis, usually inherited in an autosomal dominant pattern, caused by mutation(s) in the SOD1 gene, encoding superoxide dismutase.


Jalili syndrome

description: Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI) and cone-rod retinal dystrophy (CORD).


name: spastic paraplegia 87, autosomal recessive


name: panniculitis and localized lipodystrophy


longitudinal vaginal septum

description: A rare vaginal malformation characterized by the presence of a complete or incomplete septum dividing the vagina into two parallel cavities, resulting from failure of reabsorption of the midline uterine septum between the two fused Müllerian ducts during embryogenesis. Patients are often asymptomatic, but may present with menorrhagia, dysmenorrhea, dyspareunia, infertility, or spontaneous abortion. The condition may occur as an isolated malformation or in association with other Müllerian duct anomalies (such as septate uterus or uterus didelphys) or renal abnormalities.


name: hypertrophic osteoarthropathy, primary, autosomal recessive, 2

description: Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the SLCO2A1 gene.


name: paternal 20q13.2q13.3 microdeletion syndrome

description: Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism.


orbital cellulitis

description: Inflammation of the eye tissues posterior to the orbital septum, and generally secondary to an infection spread from adjacent sinuses. Signs and symptoms of the affected eye include sudden loss of vision, erythema, edema, decreased eye movement, and pain. Treatment is conducted via intravenous antibiotics, observation, and surgical intervention when necessary.


name: isolated focal cortical dysplasia type IIa


isolated arhinencephaly

description: Isolated arhinencephaly is a rare non-syndromic central nervous system malformation defined by the agenesis of the olfactory bulbs and tracts and characterized by complete congenital anosmia.


dysraphism with stalk

description: A rare group of closed spinal dysraphisms characterized by the presence of a stalk connecting the skin to the underlying spinal cord. The stalk contains variable combinations of non-functional neural tissue, fibrous mesenchymal tissue, and dermal/epidermal elements.


nephrotic syndrome, type 10

description: Any nephrotic syndrome in which the cause of the disease is a mutation in the EMP2 gene.


ichthyosis, annular epidermolytic 1

description: Any annular epidermolytic ichthiosis in which the cause of the disease is a variation in the KRT10 gene.


infantile-onset epilepsy

description: Epilepsy starting in the first 12 months of life, including self-limiting and refractory seizures, and epilepsies with and without developmental disorders.


premenopausal osteoporosis

description: Osteoporosis occurring in premenopausal women with existing fragility fractures, diseases or treatments known to cause bone loss or fractures.


salmonella discitis

description: Discitis caused by infection with Salmonella.


Cryoglobulinemic vasculitis

description: Mixed cryoglobulinemia (MC) is a rare multisystem disease characterized by the presence of circulating cryoprecipitable immune complexes in the serum, manifested clinically by a classical triad of purpura, weakness and arthralgia.


fetal trimethadione syndrome

description: Fetal trimethadione syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to trimethadione and that is characterized by pre- and post-natal growth retardation, intellectual deficit, developmental and speech delay, craniofacial anomalies (with some similarities to those seen in fetal valproate syndrome), and less commonly, cleft palate, malformations of the heart, urogenital system and limbs. Trimethadione is an antiepileptic drug that has been removed from the market in Europe and is no longer used much in other countries due to teratogenicity and potential side effects.


name: glycerol kinase deficiency, juvenile form

description: Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness.


chronic laryngitis

description: Persistent laryngitis usually caused by smoking, heavy alcohol consumption, voice abuse, or gastroesophageal reflux disease. It results in hoarseness and other voice changes.


name: Leber-like hereditary optic neuropathy, autosomal recessive 2


autoimmune hemolytic anemia, cold type

description: Cold autoimmune hemolytic anemia comprises two types of autoimmune hemolytic anemia (AIHA) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30B0C): cold agglutinin disease (CAD), which is the more common, and paroxysmal cold hemoglobinuria (PCH).


T cell and NK cell immunodeficiency

description: A primary immunodeficiency disease that involves multiple components of the immune system, including both T cell and NK cell immunodeficiency.


epilepsy, cattle

description: Epilepsy that occurs in cattle.


name: contractures, pterygia, and variable skeletal fusions syndrome 1B


distomatosis

description: Distomatosis is a group of parasitoses caused by flat worms that live in contact with epitheliums. Clinical classification depends on the organ infected by the adult parasite: liver, lungs, or intestines.


cystic hygroma, pig

description: Cystic hygroma that occurs in pig.


Charcot-Marie-Tooth disease type 1F

description: A form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the NEFL gene (8p21.2)..


vascular occlusion disorder

description: A disorder characterized by occlusion of blood vessels. It differs from thrombosis in that it can be used to describe any form of blockage, not just one formed by a clot.


urolithiasis, American mink

description: Urolithiasis that occurs in American mink.


idiopathic localized lipodystrophy

description: Idiopathic localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by asymptomatic, well-demarcated, depressed, lipoatrophic lesions of variable size, with normal overlying skin without antecedent inflammation or a known identifiable cause (autoimmune disease, drug injection, injury, etc).


dermatosis papulosa nigra

description: A benign skin condition commonly seen in dark-skinned individuals that is characterized by multiple small hyperpigmented papular lesions resembling seborrheic keratosis on the face and upper body.


cutaneous fibrous histiocytoma

description: A benign, intermediate, or malignant mesenchymal neoplasm composed of fibrohistiocytic cells, spindle fibroblastic cells, and histiocytes, in a storiform pattern.


hydranencephaly, non-human animal

description: Hydranencephaly that occurs in non-human animals.


name: hypopigmentation, organomegaly, and delayed myelination and development


autoimmune bullous skin disease

description: An autoimmune disease characterized by blisters on the skin.


polydactyly, Arabian camel

description: Polydactyly that occurs in Arabian camel.


subglottis neoplasm

description: A benign or malignant neoplasm that affects the subglottic area of the larynx.


hallucinogen dependence

description: A drug dependence for a hallucinogenic substance.


pulp degeneration

description: Deterioration of the normal pulp tissue.


name: demyelinating hereditary motor and sensory neuropathy


name: severe combined immunodeficiency due to LAT deficiency


name: primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome


Acanthamoeba keratitis

description: Keratitis due to infection by acanthamoeba; it is usually associated with soft contact lens wear, particularly overnight wear.


PERCHING syndrome

description: Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the KLHL7 gene.


description: Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis.


name: spondyloepimetaphyseal dysplasia, PAPSS2 type

description: A spondyloepimetaphyseal dysplasia characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.


adult cerebellar neoplasm

description: A cerebellar neoplasm that occurs in an adult.


conus spinal cord lipoma

description: A rare lipomatous, dysraphic malformation characterized by lipoma located wholly or partially at the conus.


renal hypoplasia, bilateral, dog

description: Renal hypoplasia, bilateral that occurs in dog.


name: spinocerebellar ataxia, autosomal recessive 32


name: familial median cleft of the upper and lower lips

description: Familial median cleft of the upper and lower lips is a rare and isolated orofacial defect characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family.


name: polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis


name: choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome

description: Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome.


name: neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly


name: mitochondrial complex 1 deficiency, nuclear type 30


Cornelia de Lange syndrome 1

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


deafness dystonia syndrome

description: An X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards.


pontocerebellar hypoplasia type 3

description: Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3.


LAMA5-related multisystemic syndrome

description: A rare genetic systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome, and hypothyroidism. The phenotype has been reported to be more severe in women than in men. This is an n-of-1 use case where only one patient or family has been described with this disorder.


name: ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis


dementia pugilistica

description: Conditions characterized by persistent brain damage or dysfunction as sequelae of cranial trauma. This disorder may result from diffuse axonal injury; intracranial hemorrhages; brain edema; and other conditions. Clinical features may include dementia; focal neurologic deficits; persistent vegetative state; akinetic mutism; or coma.


factor XI deficiency

description: A coagulation disorder characterized by the partial or complete absence of factor XI activity in the blood.


name: cancer, familial, with in vitro Radioresistance


description: Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/wooly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although wooly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent.


panic disorder with agoraphobia

description: A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is a component of this disorder.


ring chromosome 10

description: Ring chromosome 10 syndrome is characterized by intellectual deficit, growth retardation, and various dysmorphic features. Less than 20 cases have been described. The main features are low birth weight, microcephaly, stubby nose with a prominent nasal bridge, hypertelorism, strabismus, wide-set nipples, single transverse palmar creases, and clinodactyly. Boys have undescended testes and hypoplastic scrotum. Congenital heart disease, hydronephrosis or renal hypoplasia was present in some of the cases.


microcephaly and chorioretinopathy 3

description: Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the TUBGCP4 gene.


name: intellectual disability, autosomal dominant 43

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the HIVEP2 gene.


primary oculocerebral lymphoma

description: Primary oculocerebral lymphoma is a rare, primary, organ-specific, extranodal non-Hodgkin's lymphoma (typically diffuse large B-cell lymphoma), simultaneously affecting the intraocular compartments (retina, vitreous, optic nerve, uvea and others) and the central nervous system (commonly the cerebellum, spinal cord or pia mater). The presenting symptoms vary depending on the localization of the tumor and may include vitreous floaters or blurred vision, raised intracranial pressure (headache, vomiting, papilledema) and/or focal neurological deficits.


iron metabolism disease

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


Strongylida infectious disease

description: Infections with nematodes of the order strongylida.


intermittent explosive disorder

description: A disorder characterized by recurrent episodes of serious assaultive acts or destruction of property due to a failure to resist aggressive impulses; the degree of aggression during these episodes is grossly out of proportion to any psychosocial provocation. The aggressive episodes are not etiologically linked to another mental disorder, a general medical condition, or substance use.


name: X-linked syndromic intellectual disability

description: A syndromic intellectual disability with an X-linked mode of inheritance.


complement component 7 deficiency

description: Any classic complement early component deficiency in which the cause of the disease is a mutation in the C7 gene.


AH amyloidosis

description: A rare type of amyloidosis characterized by the monoclonal deposition of immunoglobulin heavy chain fragments in organs and tissues. It is associated with plasma cell or B-cell lymphoproliferative disorders.


nutritional disorder, non-human animal

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


name: microcephaly 5, primary, autosomal recessive

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


dopa-responsive dystonia

description: Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency.


name: pyruvate dehydrogenase E1-alpha deficiency

description: Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction.


childhood acute myeloid leukemia

description: Acute myeloid leukemia occurring in childhood.


name: viral infectious disease, non-human animal

description: Viral infectious disease that occurs in non-human animals.


scleredema adultorum

description: A usually benign and self-limited skin disorder of unknown etiology, characterized by induration of the skin. It may be associated with infection, diabetes mellitus, and hematologic malignancies. Morphologically, there is deposition of mucin in the dermis.


name: autoinflammatory disease, systemic, with vasculitis


Edinburgh malformation syndrome

description: Edinburgh malformation syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by consistently abnormal facial appearance, true or apparent hydrocephalus, motor and cognitive developmental delay, failure to thrive (feeding difficulties, vomiting, chest infections) and death within a few months of birth. Carp mouth, hairiness of the forehead, neonatal hyperbilirubinemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991.


osteogenesis imperfecta

description: Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity.


Kerion celsi

description: A rare inflammatory and suppurating type of tinea capitis, a skin infection caused by Trichophyton or Microsporum fungi, that predominantly affects the scalp and that is characterized by the development of painful crusty lesions covered with follicular pustules and surrounded by erythematous alopecic areas, that can later evolve into abscesses and leave permanent cicatricial alopecia. Lesions can be associated with regional lymphadenopathy.


name: combined immunodeficiency due to POLE2 deficiency

description: Any combined immunodeficiency due to a deficiency in the POLE2 gene.


name: facial clefting corpus callosum agenesis


Oguchi disease-1

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


Helicobacter pylori infectious disease

description: Infections with organisms of the genus HELICOBACTER, particularly, in humans, HELICOBACTER PYLORI. The clinical manifestations are focused in the stomach, usually the gastric mucosa and antrum, and the upper duodenum. This infection plays a major role in the pathogenesis of type B gastritis and peptic ulcer disease.


Beemer-Ertbruggen syndrome

description: Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984.


name: primary focal segmental glomerulosclerosis

description: A form of focal segmental glomerulosclerosis without identifiable etiology. Primary (idiopathic) FSGS has been associated with the presence of circulating permeability factors/cytokines, which cause foot process effacement and proteinuria.


atherosclerosis, non-human animal

description: Atherosclerosis that occurs in non-human animals.


name: intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures


lead poisoning

description: 5 ug/dL) is reported to lead to irreversible effects such as loss of cognition, shortening of attention span, alteration of behavior, dyslexia, attention deficit disorder, hypertension, renal impairment, immunotoxicity and toxicity to the reproductive organs.


paraquat poisoning

description: Paraquat poisoning is a rare intoxication with paraquat (a non-selective bipyridilium herbicide that has been banned in Europe), usually occurring through ingestion of the poison, and that presents with caustic injury of the oral cavity and pharynx, as well as nausea, vomiting, epigastric pain, lethargy, loss of consciousness and fever. Patients may develop potentially life-threatening complications such as hepatic dysfunction, acute tubular necrosis and renal insufficiency, and respiratory failure (due to pulmonary fibrosis) due to its inherent toxicity and lack of effective treatment. Intoxication via inhalation, injection and dermal or mucus contact have also been reported.


name: combined oxidative phosphorylation defect type 21

description: Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver.


familial periodic paralysis

description: A group of genetic neurological disorders caused by mutations in genes involved in the sodium and calcium channels in nerve cells. It is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally.


polydactyly, chicken

description: Polydactyly that occurs in chicken.


canine oral melanoma

description: A melanoma that affects the lip and/or oral cavity of a dog.


name: mitochondrial complex 4 deficiency, nuclear type 12


brachydactyly type E

description: Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.


name: progressive deafness with stapes fixation

description: Stapes fixation (stapedovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis, but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease).


name: intellectual disability, autosomal dominant 29

description: Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the SETBP1 gene.


name: familial male-limited precocious puberty

description: Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height.


gonococcal urethritis

description: Inflammation of the urethra secondary to infection with Neisseria gonorrhoeae; this infection is spread through sexual contact.


2p13.2 microdeletion syndrome

description: 2p13.2 microdeletion syndrome is a rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy.


panophthalmitis

description: Acute suppurative inflammation of the inner eye with necrosis of the sclera (and sometimes the cornea) and extension of the inflammation into the orbit. Pain may be severe and the globe may rupture. In endophthalmitis the globe does not rupture.


Baller-Gerold syndrome

description: Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).


baker Vinters syndrome

description: A very rare syndrome characterized by craniosynostosis (premature fusion of skull bones), hydrocephalus (an abnormal increase of cerebrospinal fluid in the ventricles of the brain) and abnormal development of the channel or duct in the middle of the brain that connects the third and fourth ventricles. This is an n-of-1 use case where only one patient or family has been described with this disorder.


name: gaze palsy, familial horizontal, with progressive scoliosis 1


monieziasis

description: Infection of ruminants with tapeworms of the genus Moniezia.


acute myeloid leukemia, Monosomy 7

description: Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 7. (A chromosomal abnormality consisting of the absence of one of the copies of chromosome 7 in somatic cells.)


lumpy skin disease

description: A poxvirus infection of cattle characterized by the appearance of nodules on all parts of the skin.


hypotrichosis 13

description: Any hypotrichosis in which the cause of the disease is a mutation in the KRT71 gene.


name: intellectual developmental disorder with or without epilepsy or cerebellar ataxia


temtamy preaxial brachydactyly syndrome

description: An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has material basis in homozygous mutation in the CHSY1 gene.


hyperamylasemia

description: Abnormally high level of amylase in the blood.


benign neoplasm of soft palate

description: A benign neoplasm that involves the soft palate.


name: neuropathy, hereditary motor and sensory, type 6B

description: Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the SLC25A46 gene.


hypercalcemia, infantile, 2

description: Any hypercalcemia, infantile in which the cause of the disease is a mutation in the SLC34A1 gene.


atrophoderma of Pierini and Pasini

description: Atrophoderma of Pierini and Pasini is thought to possibly represent a late stage of morphea a type of localized scleroderma. Signs and symptoms ofatrophoderma of Pierini and Pasini include multiple oval, darkened (hyperpigmented) plaques in which tissue under the skin breaks downso that there is a depression (dent) within the skin. Some findings suggest that atrophoderma of Pierini and Pasini may be associated with B burgdorferi, a bacteria that causesLyme disease, in some cases.


name: autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures

description: An autosomal dominant type of spinal muscular atrophy caused by mutation(s) in the DYNC1H1 gene, encoding cytoplasmic dynein 1 heavy chain 1.


lymphocele

description: A cystic lesion containing lymph. It usually results from injury, gynecologic surgery, or urologic surgery.


name: Charcot-Marie-Tooth disease axonal type 2X

description: Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the SPG11 gene.


isolated transitional filum lipoma

description: A rare dysraphic abnormality characterized by the infiltration of fatty tissue localized in the filum terminale, with abnormal conus shape. The spinal cord is typically attenuated and the limit between its end and the fatty filum is hard to distinguish. There are no additional spinal cord malformation, but it can be associated with vertebral abnormalities, anorectal malformation or other syndromic condition. It is named transitional for its intermediate image between an isolated filum lipoma and a terminal conus region lipoma.


name: acute myeloid leukemia with t(9;11)(p22;q23)


name: congenital generalized lipodystrophy type 3

description: Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAV1 gene.


columnar cell hyperplasia of the breast

description: A columnar cell lesion characterized by the presence of enlarged terminal ductal lobular units with dilated acini. The acini are lined by more than two layers of columnar epithelial cells. Prominent apical cytoplasmic snouts are present. Secretions are often present in the lumina of the dilated acini.


annular epidermolytic ichthyosis

description: Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities.


vitreous disorder

description: A disease involving the vitreous humor.


intellectual disability, X-linked 63

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ACSL4 gene.


name: intellectual developmental disorder with autistic features and language delay, with or without seizures


orofacial cleft 10

description: Any orofacial cleft in which the cause of the disease is a mutation in the SUMO1 gene.


Wissler syndrome

description: A rheumatic syndrome of possibly allergic origin, usually affecting children and adolescents, and characterized by high fever, exanthema, arthralgia, leukocytosis, and increased sedimentation rate.


prekallikrein deficiency, horse

description: Prekallikrein deficiency that occurs in horse.


inborn serine deficiency

description: An inherited metabolic disease that is has its basis in the disruption of L-serine biosynthetic process.


name: neuronopathy, distal hereditary motor, type 2C

description: Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB3 gene.


uterine cervix neoplasm

description: A neoplasm (disease) that involves the uterine cervix.


name: autosomal recessive nonsyndromic hearing loss 63

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


name: intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly


Waardenburg syndrome type 3

description: Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin.


swine erysipelas

description: An acute and chronic contagious disease of young pigs caused by Erysipelothrix insidiosa.


olfactory nerve disorder

description: A disease involving the olfactory nerve.


auditory system benign neoplasm

description: A sensory system benign neoplasm that is located in the auditory system.


Actinomycetales infectious disease

description: Infections with bacteria of the order actinomycetales.


name: autosomal recessive limb-girdle muscular dystrophy type R18

description: A form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.


name: corneal dystrophy pigmentary anomaly malabsorption


name: neuronopathy, distal hereditary motor, type 7B

description: Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the DCTN1 gene.


hereditary skeletal muscle disorder

description: An instance of muscle tissue disorder that is caused by an inherited genomic modification in an individual.


orbit sarcoma

description: A malignant soft tissue neoplasm that arises from the structures of the orbit. The majority of the cases are rhabdomyosarcomas.


subaortic course of innominate vein

description: Subaortic course of innominate vein is a rare congential anomaly of the great veins characterized by an anomalous course of the left brachiocephalic vein, passing from left to right below the aortic arch and entering the superior vena cava below the orifice of the azygos vein. Patients are frequently asymptomatic and diagnosed incidentally on imaging studies. Other cardiac malformations may be associated.


name: intellectual developmental disorder, autosomal recessive 71


name: holoprosencephaly 12 with or without pancreatic agenesis


infantile apnea

description: Infantile apnea is a cessation of respiratory air flow that may affect newborns or older children because of neurological impairment of the respiratory rhythm or obstruction of air flow through the air passages. The symptoms include cyanosis, pallor or bradycardia and snoring in case of obstructive apnea.


description: Methotrexate-associated lymphoproliferative disorders are rare immunodeficiency-associated lymphoproliferative diseases characterized by lymphoid proliferation or lymphomas (large B-cell lymphoma, T-cell lymphoma, Hodgkin lymphoma, reactive lymphadenitis and a polymorphic post-transplant lymphoproliferative disorder) that develop in patients with different autoimmune diseases treated with methotrexate. Swelling is the predominant manifestation of the disease and regression after methotrexate withdrawal is observed in a significant proportion of patients.


name: mitochondrial complex IV deficiency, nuclear-type


myotonia fluctuans

description: Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion.


name: childhood-onset benign chorea with striatal involvement


name: cerebral malformation, seizures, hypertrichosis, and overlapping fingers


name: spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability

description: A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. This is an n-of-1 use case where only one patient or family has been described with this disorder.


malignant histiocytosis, pig

description: Malignant histiocytosis that occurs in pig.


name: anterior cutaneous nerve entrapment syndrome

description: Anterior cutaneous nerve entrapment syndrome (ACNES) is a chronic neuropathic pain syndrome of the abdominal wall caused by entrapment of anterior cutaneous branches of 7 to 12th intercostal nerves along the lateral border of the anterior rectus abdominis fascia causing severe pain and tenderness of the involved dermatome.


Marinesco-Sjogren syndrome

description: Marinesco-Sjogren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.


platelet-type bleeding disorder 19

description: Any isolated hereditary giant platelet disorder in which the cause of the disease is a mutation in the PRKACG gene.


renal dysplasia, domestic cat

description: Renal dysplasia that occurs in domestic cat.


mansonelliasis

description: A parasitic infection caused by the nematode Mansonella. Signs and symptoms include pruritus, headache, fever, arthralgias, and eosinophilia.


anterior pituitary gland disorder

description: A disease that involves the adenohypophysis.


hereditary spastic paraplegia 13

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the HSPD1 gene.


heterotaxy, visceral, 8, autosomal

description: Any visceral heterotaxy in which the cause of the disease is a mutation in the PKD1L1 gene.


canine oral squamous cell carcinoma

description: Oral squamous cell carcinoma that occurs in a dog.


Joubert syndrome 10

description: Any Joubert syndrome in which the cause of the disease is a mutation in the OFD1 gene.


name: developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy


vagus nerve disorder

description: A disease involving the vagus nerve.


name: neurodevelopmental disorder with ataxia, hypotonia, and microcephaly


name: focal alopecia congenital megalencephaly


canine thyroid adenocarcinoma

description: Adeonocarcinoma of the thyroid gland occurring in a dog.


Blount disease

description: Blount disease is characterized by disturbed growth of the inner portion of the upper tibial extremity, progressively leading to bowlegged deformity with bone angulation just below the knee (tibia varus). In 60% of cases, the condition affects both legs.


janus kinase-3 deficiency

description: Deficiency of janus kinase-3 causing the near absence of T lymphocytes and Natural killer cells; and normal or elevated B lymphocytes due to an autosomal recessive variant of severe combined immunodeficiency.


name: symptomatic form of fragile X syndrome in female carrier


acquired angioedema type 2

description: Acquired angioedema type 2 (AAE2) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.


name: familial adenomatous polyposis due to 5q22.2 microdeletion


name: disorder of thiamine metabolism and transport


name: congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency

description: Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias.


name: hypogonadotropic hypogonadism 6 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF8 gene.


bird headed-dwarfism, Montreal type

description: Microcephalic primordial dwarfism, Montreal type is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970.


aorta angiosarcoma

description: A malignant vascular neoplasm arising from the aorta.


basaloid follicular hamartoma

description: A type of pilosebaceous hamartoma characterized by basal cell epitheliomata, epidermoid cysts and comedones, and epidermal atrophy.


name: hydroxyacyl glutathione hydrolase deficiency


name: deafness hypospadias metacarpal and metatarsal syndrome


name: cleft lip palate intellectual disability corneal opacity


kidney benign neoplasm

description: A non-metastasizing neoplasm that arises from the kidney. Representative examples include cystic nephroma, metanephric adenoma, oncocytoma, and urothelial papilloma of the renal pelvis.


name: Hodgkin's lymphoma, lymphocytic depletion

description: A diffuse subtype of classical Hodgkin lymphoma which is rich in Hodgkin and Reed-Sternberg cells and/or depleted in non-neoplastic lymphocytes. (WHO, 2008)


name: patterned dystrophy of the retinal pigment epithelium


name: intellectual disability, autosomal recessive 65


angiomatous meningioma

description: A WHO grade I meningioma characterized by the presence of small and medium sized vessels that predominate over the meningioma cells.


premature ovarian failure 7

description: Any primary ovarian failure in which the cause of the disease is a mutation in the NR5A1 gene.


paratuberculosis

description: A chronic gastroenteritis in ruminants caused by mycobacterium avium subspecies paratuberculosis.


name: corpus callosum agenesis-macrocephaly-hypertelorism syndrome


description: Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia.


cutaneous mycosis

description: A mycosis that involves the integument and its appendages, including hair and nails. Infection may involve the stratum corneum or deeper layers of the epidermis.


name: neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia


name: childhood acute megakaryoblastic leukemia

description: An acute megakaryocytic leukemia that is characterized by fusion oncogenes involving transcriptional regulators in childhood.


pediatric liposarcoma

description: A rare malignant neoplasm arising from adipocytes, that occurs in children. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma.


ulna metaphyseal dysplasia syndrome

description: Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga.


radiation myelitis

description: A disease characterized by white matter damage to the spinal cord developed after a certain period of application of ionizing radiation.


variant Creutzfeldt-Jakob disease

description: A form of Creutzfeldt-Jakob disease that is most commonly contracted after consuming meat from an animal suffering from bovine spongiform encephalopathy.


echinococcosis

description: A parasitic infection caused by tapeworm larvae of Echinococcus. It affects livestock and humans. It is characterized by the formation of hydatid cysts mainly in the liver, lungs, spleen, and kidneys. Rupture of the cysts may lead to shock.


alkaptonuria, crab-eating macaque

description: Alkaptonuria that occurs in crab-eating macaque.


name: facioscapulohumeral muscular dystrophy 2

description: Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the SMCHD1 gene.


name: autosomal recessive spastic paraplegia type 68


Leber congenital amaurosis 16

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the KCNJ13 gene.


genito-palato-cardiac syndrome

description: Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.


name: isolated growth hormone deficiency, type 5


Treacher Collins syndrome 2

description: Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1D gene.


keratopathy

description: Any disorder of the cornea.


hemophilia B, domestic cat

description: Hemophilia B that occurs in domestic cat.


name: autosomal recessive palmoplantar keratoderma and congenital alopecia

description: Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum.


marasmus

description: The lack of sufficient energy or protein to meet the body's metabolic demands, as a result of either an inadequate dietary intake of protein, intake of poor quality dietary protein, increased demands due to disease, or increased nutrient losses.


name: X-linked intellectual disability, Sutherland-Haan type


hereditary spastic paraplegia 35

description: Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging.


name: Actinobacillus infectious disease, non-human animal

description: Actinobacillus infectious disease that occurs in non-human animals.


name: syndromic X-linked intellectual disability Nascimento type

description: X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.


Sagliker syndrome

description: A rare bone disease that arises due to secondary hyperparathyroidism in patients with chronic renal failure receiving dialysis characterized by 'uglifying' the appearance of the face


name: late infantile neuronal ceroid lipofuscinosis

description: A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration.


venereal tumors, veterinary

description: Tumors most commonly seen on or near the genitalia. They are venereal, most likely transmitted through transplantation of cells by contact. Metastases have been reported. Spontaneous regression may occur.


Cole-Carpenter syndrome 1

description: Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the P4HB gene.


name: chromosome 15q13.3 microdeletion syndrome

description: 15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.


atrial septal defect 3

description: Any atrial heart septal defect in which the cause of the disease is a mutation in the MYH6 gene.


name: mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations


immune system cancer

description: A malignant neoplasm involving the immune system


Sugarman brachydactyly

description: Sugarman brachydactyly is a rare, genetic, congenital limb malformation characterized by brachydactyly of fingers, with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers. There have been no further descriptions in the literature since 1982.


name: X-linked intellectual disability, Schutz type


thyroid dyshormonogenesis 3

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


poliovirus infection

description: An disease or disorder caused by infection with Enterovirus C.


brachyolmia, Maroteaux type

description: Autosomal recessive brachyolmia, Maroteaux type is a relatively mild form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short trunk/short stature, generalized platyspondyly and rounding of vertebral bodies. It remains unknown whether the phenotype represents a single disease entity or a heterogeneous group of mild skeletal dysplasias.


congenital myasthenic syndrome 3C

description: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has material basis in compound heterozygous mutation in the CHRND gene on chromosome 2q37.


name: intellectual disability, autosomal dominant 52


name: intellectual disability, autosomal recessive 23


corticobasal degeneration disorder

description: A progressive neurodegenerative condition affecting the cerebral cortex and basal ganglia. The disorder is characterized by varying degrees of cognitive and motor impairment.


white piedra

description: A superficial mycosis due to T beigelii that is characterized by a soft, friable, beige nodule of the distal ends of hair shafts.


description: Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50.


name: generalized galactose epimerase deficiency


name: hallux varus-preaxial polysyndactyly syndrome

description: Hallux varus-preaxial polysyndactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980.


toxoplasmosis, non-human animal

description: Acquired infection of non-human animals by organisms of the genus toxoplasma.


congenital myasthenic syndrome 2A

description: A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous mutation in the CHRNB1 gene on chromosome 17p13.


pyruvate dehydrogenase deficiency

description: Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency.


benign shuddering attacks

description: Uncommon, involuntary movements of the head and upper extremities resembling shivering and straining seen in infants and children during normal activities and without impaired consciousness or epileptiform electroencephalogram (EEG).  Resolution or improvement by age 2 or 3 is often noted.


Bartholin gland neoplasm

description: A benign or malignant neoplasm that affects the Bartholin gland. Representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma.


B cell linker protein deficiency

description: A hypobammaglobulinemia that is a B cell deficiency that has material basis in a mutation in a cytoplasmic linker or adaptor protein that plays a critical role in B cell development, the B cell linker protein (BLNK) gene. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. The BLNK gene is associated with intracellular calcium mobilization, essential for cell activation.


Meier-Gorlin syndrome 3

description: Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC6 gene.


torsion dystonia 2

description: Primary dystonia DYT2 type is characterized by segmental dystonia that manifests with involuntary posturing affecting predominantly the feet.


name: hypogonadotropic hypogonadism 23 with or without anosmia

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


delusional disorder

description: A disorder characterized by the presence of one or more nonbizarre delusions that persist for at least 1 month; the delusion(s) are not due to schizophrenia or a mood disorder, and do not impair psychosocial functioning apart from the ramifications of the delusion(s).


adult myxoid chondrosarcoma

description: A myxoid chondrosarcoma occurring in adults.


name: autosomal recessive cerebellar ataxia-blindness-deafness syndrome


X-linked mandibulofacial dysostosis

description: X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum.


Becker muscular dystrophy

description: Becker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.


description: This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss.


name: lethal congenital contracture syndrome 7

description: Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the CNTNAP1 gene.


name: acute myeloid leukemia, inv(3)(q21.3;q26.2)

description: Any acute myeloid leukemia that has the chromosomal anomaly inv(3)(q21.3;q26.2). (A cytogenetic abnormality that refers to a paracentric inversion involving breakpoints on the long (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.)


eyelid neoplasm

description: A benign or malignant neoplasm that affects the eyelid. Representative examples include hemangioma, nevus, and carcinoma.


name: hamartoma, Precalcaneal congenital fibrolipomatous


name: refractory anemia with excess blasts in transformation

description: Refractory anemia with excess blasts in transformation (RAEB-T) is characterized by dysplastic features of the myeloid and usually erythroid progenitor cells in the bone marrow and an increased number of myeloblasts in the peripheral blood. The peripheral blood blast count ranges from 20% to 30%. RAEB-T used to be a subcategory of myelodysplastic syndromes in the past. Recently, the term has been eliminated from the WHO based classification of myelodysplastic syndromes. The reason is that the percentage of peripheral blood blasts required for the diagnosis of acute myeloid leukemia has been reduced to 20%. The elimination of the RAEB-T term by the WHO experts has created confusion and ongoing arguments. Currently, according to WHO classification, the vast majority of RAEB-T cases are best classified as acute leukemias (acute leukemias with multilineage dysplasia following myelodysplastic syndrome). A minority of cases are part of RAEB-2.


D-2-hydroxyglutaric aciduria 1

description: Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the D2HGDH gene.


adenoviridae infectious disease

description: An infectious process caused by adenovirus. The virus may cause respiratory illness, conjunctivitis, gastroenteritis, and cystitis.


entropion, sheep

description: Entropion that occurs in sheep.


polyclonal hypergammaglobulinemia

description: A laboratory test result indicating abnormally high proliferation of gamma globulins in the blood originating from multiple cell lines.


Queensland tick typhus

description: A spotted fever that has material basis in Rickettsia australis, which is transmitted by ticks (Ixodes holocyclus). The infection has symptom fever, has symptom headache, has symptom myalgia, has symptom maculopapular rash, and has symptom lymphadenopathy.


hemorrhagic cystitis

description: Inflammation of the bladder resulting in bloody urine.


Bacteroidaceae infectious disease

description: Infections with bacteria of the family BACTEROIDACEAE.


name: malignant mixed epithelial and mesenchymal tumor of cervix uteri


acquired factor VII deficiency

description: An acquired coagulation disorder characterized by the partial or complete absence of factor VII activity in the blood.


neonatal anemia

description: The mildest form of erythroblastosis fetalis in which anemia is the chief manifestation.


name: early-onset immune dysregulation due to DOCK11 complete deficiency


penile cancer

description: A primary or metastatic malignant neoplasm that affects the penis. Representative examples include penile carcinoma and penile sarcoma.


acquired coagulation factor deficiency

description: Deficiency of a coagulation factor that is not caused by genetic alterations. Causes include vitamin K deficiency, amyloidosis, and severe liver disease.


tinea barbae

description: A dermatophytosis that involves the beard.


name: EGF-related primary hypomagnesemia with intellectual disability


name: autosomal recessive nonsyndromic hearing loss 27

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q31.


atrial fibrillation, non-human animal

description: Atrial fibrillation that occurs in non-human animals.


swine vesicular disease

description: An enterovirus infection of swine clinically indistinguishable from foot-and-mouth disease, vesicular stomatitis, and vesicular exanthema of swine. It is caused by a strain of human enterovirus B.


name: COG8-congenital disorder of glycosylation

description: The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterized by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products.


Atkin-Flaitz syndrome

description: Atkin-Flaitz syndrome is characterized by moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same family. The males also presented with postpubertal macroorchidism. Transmission is X-linked.


pleural disorder

description: A non-neoplastic or neoplastic disorder that affects the pleura. Representative examples include pleural infection, pleural mesothelioma, and pleural solitary fibrous tumor.


lesion of sciatic nerve

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


name: intellectual disability, autosomal recessive 13

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TRAPPC9 gene.


premature ovarian failure 9

description: Any primary ovarian failure in which the cause of the disease is a mutation in the HFM1 gene.


name: corpus callosum agenesis-double urinary collecting system syndrome


syndactyly, Swainson's hawk

description: Syndactyly that occurs in Swainson's hawk.


exhibitionism

description: A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the exposure of one's genitals to an unsuspecting stranger.


grade III lymphomatoid granulomatosis

description: A lymphomatoid granulomatosis that is characterized by the presence of aggregates of neoplastic large B-lymphocytes, usually admixed with pleomorphic and Hodgkin-like cells, in a background of chronic inflammation. Necrotic changes are present and are usually extensive.


Fanconi anemia complementation group R

description: Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51 gene.


decompression sickness

description: A condition occurring as a result of exposure to a rapid fall in ambient pressure. Gases, nitrogen in particular, come out of solution and form bubbles in body fluid and blood. These gas bubbles accumulate in joint spaces and the peripheral circulation impairing tissue oxygenation causing disorientation, severe pain, and potentially death.


familial hypoaldosteronism

description: Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone).


name: hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature


name: vertebral hypoplasia with lumbar kyphosis


name: immunodeficiency-related disorder, non-human animal

description: Immunodeficiency-Related disorder that occurs in non-human animals.


salpingo-oophoritis

description: Inflammation of the fallopian tubes and ovaries.


metabolic disease, non-human animal

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


ventricular septal defect 3

description: Any ventricular septal defect in which the cause of the disease is a mutation in the NKX2-5 gene.


severe hemophilia A

description: Severe hemophilia A is a form of hemophilia A characterized by a large deficiency of factor VIII leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.


tricho-retino-dento-digital syndrome

description: Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients.


name: acute disseminated encephalomyelitis without anti-MOG antibodies


name: CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy

description: Any neurodevelopmental disorder and/or exudative vitreoretinopathy caused by a monoallelic variant in the CTNNB1 gene. Variants in CTNNB1 are related to a neurodevelopmental condition with a broad spectrum of presentations ranging from isolated vitreoretinopathy to a complex neurodevelopmental disorder with mild to severe intellectual disability, microcephaly, spasticity, autism spectrum disorder, and visual defects, including retinal detachment, and abnormal retinal vascularization.


hereditary nephritis

description: A group of inherited conditions characterized initially by hematuria and slowly progressing to renal insufficiency. The most common form is the Alport syndrome (hereditary nephritis with hearing loss) which is caused by mutations in genes for type IV collagen and defective glomerular basement membrane.


split hand-foot malformation 6

description: Any split hand-foot malformation in which the cause of the disease is a mutation in the WNT10B gene.


maxillary sinusitis

description: An acute or chronic inflammatory process affecting the mucous membrane of the maxillary sinus.


xeroderma pigmentosum group A

description: Any xeroderma pigmentosum in which the cause of the disease is a mutation in the XPA gene.


name: diabetes mellitus, congenital autoimmune


description: Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.


name: Phelan-McDermid syndrome, non-human animal

description: Phelan-McDermid syndrome that occurs in non-human animals.


myoclonic epilepsy of Lafora 2

description: Any Lafora disease in which the cause of the disease is a variation in the NHLRC1 gene.


name: Y chromosome infertility due to DAZ1 deletion


name: neonatal severe primary hyperparathyroidism

description: Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism.


name: progeroid and marfanoid aspect-lipodystrophy syndrome


iatrogenic disease

description: Any adverse condition in a patient occurring as the result of treatment by a physician, surgeon, or other health professional, especially infections acquired by a patient during the course of treatment.


5q35 microduplication syndrome

description: The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation.


aortic aneurysm, familial thoracic 6

description: Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the ACTA2 gene.


name: heart defect - tongue hamartoma - polysyndactyly syndrome


name: neurodevelopmental disorder with dysmorphic facies and variable seizures


aleukemic leukemia

description: A leukemia characterized by the absence of leukemic cells in the peripheral blood.


Fanconi anemia complementation group Q

description: Any Fanconi anemia in which the cause of the disease is a mutation in the ERCC4 gene.


retinitis pigmentosa 18

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF3 gene.


name: microcephaly 23, primary, autosomal recessive


Niemann-Pick disease, type C1

description: Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein.


inherited thyroid metabolism disease

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


Adams-Oliver syndrome 1

description: Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the ARHGAP31 gene.


description: This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis.


Dandy-Walker syndrome, domestic cat

description: Dandy-Walker syndrome that occurs in domestic cat.


Jawad syndrome

description: Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly with facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated.


otorhinolaryngologic disease

description: Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases.


organophosphate poisoning

description: A poisoning that is caused by exposure to organophosphate.


lacrimal duct cancer

description: A primary or metastatic malignant neoplasm affecting the lacrimal duct.


name: spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant


ventricular septal defect, pig

description: Ventricular septal defect that occurs in pig.


intermediate anorectal malformation

description: Intermediate anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying between the pubococcygeal line and the ischial tuberosity (e.g., rectovestibular and rectovaginal fistulas in the female, rectobulbar fistula in the male, and anal agenesis). Patients may present with failure to pass meconium, failure to thrive, and recurrent urinary tract infections.


name: blistering, acantholytic, of oral and laryngeal mucosa


EEM syndrome

description: EEM syndrome is characterized by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1).


trochlear nerve neoplasm

description: A neoplasm involving a trochlear nerve.


hereditary spastic paraplegia 38

description: A hereditary spastic paraplegia that has material basis in variation in the chromosome region 4p16-p15.


lichen planopilaris

description: Lichen planopilaris (LPP) is a rare cutaneous variant of lichen planus which affects hair follicles. It may occur on its own or in association with more common forms of lichen planus, usually classical type and/or oral lichen planus.


nasal cavity disorder

description: A disease involving the nasal cavity.


Actinobacillus infectious disease

description: Infections with bacteria of the genus actinobacillus.


distal trisomy 19q

description: Distal trisomy 19q is a rare chromosomal anomaly syndrome characterized by low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (e.g. clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations.


name: Epstein-Barr virus-associated mesenchymal tumor


name: chronic inflammation of lacrimal passage


name: partial duplication of the long arm of chromosome 17


mitochondrial DNA depletion syndrome

description: The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome.


glycoprotein metabolism disease

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


name: Pelizaeus-Merzbacher disease, classic form

description: The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD.


polyp of frontal sinus

description: A polyp that involves the frontal sinus.


pontocerebellar hypoplasia type 1A

description: Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VRK1 gene.


name: cerebral calcification cerebellar hypoplasia


name: immunodeficiency 63 with lymphoproliferation and autoimmunity


van Maldergem syndrome

description: Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia.


name: hypogonadotropic hypogonadism-frontoparietal alopecia syndrome

description: This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia.


disorder of organic acid metabolism

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


spinal muscular atrophy, type II

description: Proximal spinal muscular atrophy type 2 (SMA2) is a chronic infantile form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.


name: developmental and epileptic encephalopathy, 12

description: An extremely rare nervous system disorder. Infants with EIEE12 develop very frequent epileptic seizures. Seizures present within the first days to months of life. Seizures may trigger eye rolling, eyelid fluttering, lip smacking, drooling, bluish coloring around the mouth, limpness, or muscle stiffening (particularly those in his or her back, legs, and arms). The seizures associated with this disease are difficult to treat and the syndrome is severely progressive. EIEE12 occurs when a child inherits two mutations in the PLCB1 gene (one from each parent). EIEE12 is inherited in an autosomal recessive fashion.


trichodental syndrome

description: Trichodental syndrome is characterized by the association of fine, dry and short hair with dental anomalies. It has been described in less than 10 families. The mode of transmission is autosomal dominant.


Uner Tan Syndrome

description: A tubulinopathy with material basis in TUBB2B that is characterized by variations in R390Q, quadrupedal locomotion, cerebellar hypoplasia and does not have basal ganglia malformations.


splenic tuberculosis

description: Infection of the spleen with species of mycobacterium.


IgG4-related disease

description: A recently described mass-forming lesion that occurs in the pancreas, submandibular glands, lacrimal glands, lymph nodes, and hepatobiliary tract. It is characterized by the presence of marked tissue sclerosis and infiltration by numerous plasma cells. The plasma cells show immunohistochemical staining for IgG4 and the serum IgG4 levels are often increased.


familial thyroglossal duct cyst

description: Familial thyroglossal duct cyst (TDC) is a very rare inherited form of TDC characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck.


periapical periodontitis

description: Inflammation of the periapical tissue. It includes general, unspecified, or acute nonsuppurative inflammation. Chronic nonsuppurative inflammation is periapical granuloma. Suppurative inflammation is periapical abscess.


McKusick-Kaufman syndrome

description: McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.


anemia of prematurity

description: A blood disorder characterized by low hemoglobin levels in premature neonates that usually spontaneously resolves within 3-6 months post birth. A combination of factors including the transition from the liver to the bone marrow for erythropoiesis in a neonate, blood loss experienced during delivery, the shortened life span of fetal blood cells, and an acclimation to a relatively hyperoxic environment outside the womb can predispose a neonate to this condition.


Koolen-de Vries syndrome

description: A chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior.


IRIDA syndrome

description: IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment.


melanoacanthoma

description: A benign, darkly pigmented skin lesion characterized by proliferation of keratinocytes and melanocytes.


name: hypertrophic cardiomyopathy, domestic cat

description: Hypertrophic cardiomyopathy that occurs in domestic cat.


name: microcephaly, short stature, and impaired glucose metabolism


tetradysmelia, cattle

description: Tetradysmelia that occurs in cattle.


erythrocytosis, familial, 4

description: Any familial polycythemia in which the cause of the disease is a mutation in the EPAS1 gene.


name: craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome


polydactyly, rock pigeon

description: Polydactyly that occurs in rock pigeon.


name: central nervous system calcification-deafness-tubular acidosis-anemia syndrome

description: This syndrome is characterized by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family.


coenzyme Q10 deficiency, primary, 3

description: Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the PDSS2 gene.


dilated cardiomyopathy, sea otter

description: Dilated cardiomyopathy that occurs in sea otter.


name: glycogen storage disease due to GLUT2 deficiency

description: Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism.


OSLAM syndrome

description: OSLAM syndrome is characterized by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangy, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anemia.


name: autoimmune lymphoproliferative syndrome type 2B

description: Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.


name: spinocerebellar ataxia, autosomal recessive 28


metabolic epilepsy

description: Metabolic epilepsies are conceptualized as having a distinct metabolic abnormality that has been demonstrated to be associated with a substantially increased risk of developing epilepsy in appropriately designed studies. Metabolic disorders have genetic origin; however, the metabolic abnormalities are a separate disorder interposed between the genetic defect and the epilepsy.


name: trimethylaminuria (fishy taint), non-human animal

description: Trimethylaminuria (fishy taint) that occurs in non-human animals.


name: partial deletion of the long arm of chromosome 3


adenomatoid odontogenic tumor

description: A benign, slow growing neoplasm arising from tooth-forming tissues. The vast majority of cases are intraosseous and most often grow in the maxilla. It is characterized by the presence of odontogenic epithelium which is embedded in a connective tissue stroma. Local excision is curative and recurrences are very rare.


name: neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1


name: nystagmus 2, congenital, autosomal dominant


epilepsy, chicken

description: Epilepsy that occurs in chicken.


name: peroxisome biogenesis disorder due to PEX12 defect

description: Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX12 gene.


oocyte maturation defect 2

description: Any inherited oocyte maturation defect in which the cause of the disease is a mutation in the TUBB8 gene.


infantile glycine encephalopathy

description: Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE), characterized by early hypotonia, developmental delay and seizures.


schwannomatosis, cattle

description: Schwannomatosis that occurs in cattle.


congenital rubella syndrome

description: An infectious embryofetopathy that may present in an infant as a result of maternal infection and subsequent fetal infection with rubella virus. CRS can lead to deafness, cataract, and variety of other permanent manifestations including cardiac and neurological defects.


atactic disorder

description: A central nervous system disease that consists of gait impairment, unclear (“scanning”) speech, visual blurring due to nystagmus, hand incoordination, and tremor with movement.


name: anterior segment developmental abnormality with extraocular manifestations


acromegaly, dog

description: Acromegaly that occurs in dog.


name: MED12-related intellectual disability syndrome

description: An X-linked syndromic intellectual disability that that includes subtypes of the heterogeneous, eponymously named Lujan-Fryns syndrome, X-linked Ohdo syndrome, and Optiz-Kaveggia/ FG syndrome, which is caused by mutations in the gene MED12. The common and most penetrant phenotype shared amongst these disease entities is intellectual disability, with dysgenesis or agenesis of the corpus callosum, blepharophimosis, and marfanoid habitus having variable phenotypic expressivity.


infectious myositis

description: An infectious process affecting the skeletal muscles. It can be caused by viruses (including HIV), bacteria, fungi, and parasites. Symptoms include muscle weakness and muscle pain.


name: early-onset cerebellar ataxia with retained tendon reflexes

description: Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss.


peeling skin syndrome 5

description: Any peeling skin syndrome in which the cause of the disease is a mutation in the SERPINB8 gene.


name: late-onset junctional epidermolysis bullosa

description: Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB) occurring in childhood or young adulthood.


bladder benign neoplasm

description: A benign abnormal growth of the cells that comprise the bladder.


mesenchymoma

description: A term describing a soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation.


triploidy, chicken

description: Triploidy that occurs in chicken.


name: oculocerebrofacial syndrome, Kaufman type


name: sensory ganglionopathy, non-human animal

description: Sensory ganglionopathy that occurs in non-human animals.


Chediak-Higashi syndrome, cattle

description: Chediak-Higashi syndrome that occurs in cattle.