elliptocytosis 1

description: Any hereditary elliptocytosis in which the cause of the disease is a mutation in the EPB41 gene.


hemicrania continua

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

description: Hemicrania continua (HC) is a type of primary headache disorder, which means the headache is not caused by another medical condition. Symptoms of HC include constant mild to moderate pain on one side of the head (unilateral) with periods of more intense, severe, migraine -like pain (exacerbations). These severe pain periods can last from 20 minutes to days. The frequency of exacerbations also varies greatly. The headache stays on the same side of the head and usually without pain free periods. HC is more common in women and most often starts in adulthood, but may begin anywhere from 5 to 67 years of age. Diagnosis of hemicrania continua (HC) is made by ruling out other possible causes of the pain and by clinical symptoms. During the periods of severe pain, at least one of the following symptoms must be present on same side of the body as the headache: watering or red eyes (conjunctival injection), congested or runny nose, or drooping eyelid. In addition, the headache pain must respond to treatment with indomethacin. The cause of HC is unknown. Other treatments for those who cannot tolerate long term indomethacin therapy are being studied.


description: A B-lymphoblastic leukemia/lymphoma that has a gene expression profile similar to that of B-ALL with t(9;22)(q34.1;q11.2) BCR-ABL1, but lacks that gene fusion.


psychogenic polydipsia

description: A form of primary polydipsia caused by underlying psychiatric symptoms, including those caused by psychoses and rarely by affective disorders.


phytanoyl-CoA hydroxylase deficiency

description: Any disorder of peroxisomal alpha oxidation in which the cause of the disease is a mutation in the PHYH gene.


central nervous system lipoma

description: A rare benign adipose tissue neoplasm of the central nervous system frequently found in midline locations such as the corpus callosum, the quadrigeminal plate, the hypothalamus, the spinal canal or the cauda equina. Some contain Schwann cells, bone, cartilage or hamartomatous blood vessels.


premature ovarian failure 12

description: Any primary ovarian failure in which the cause of the disease is a mutation in the SYCE1 gene.


nephronophthisis 12

description: Any nephronophthisis in which the cause of the disease is a mutation in the TTC21B gene.


name: spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness


alopecia, congenital

description: A congenital condition characterized by the absence of hair on the scalp or entire body. The lack of hair is rarely absolute and is usually accompanied by incompletely grown, lanugo-like hair. It affects males twice as much as females and a familial tendency is common.


description: Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects.


name: microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1


name: atypical hemolytic-uremic syndrome with MCP/CD46 anomaly


name: osteopathia striata with cranial sclerosis

description: Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.


name: peroxisome biogenesis disorder due to PEX10 defect

description: Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX10 gene.


acquired porencephaly

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


autosomal recessive Robinow syndrome

description: Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia.


visceral calciphylaxis

description: Visceral calciphylaxis is a rare, life-threatening, non-inflammatory vasculopathy disorder characterized by diffuse precipitation of calcium in viscera (mainly in the heart or lungs, but also in the stomach or kidneys) leading to fibrosis and thrombosis, which eventually cause necrotic ulcerations of the tissue. Patients may present with dyspnea, cough and respiratory failure or acute heart block and subsequent sudden cardiac death, depending on the affected organ. The disease mainly affects patients on dialysis or patients having undergone renal transplantation.


name: Ehlers-Danlos syndrome, periodontal type 2


name: intellectual disability, autosomal recessive 27

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LINS1 gene.


name: Anaplasmataceae infectious disease, non-human animal

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


cholinergic urticaria

description: A type of physical urticarias (or hives) that appears when a person is sweating.


name: hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome

description: Hereditary inclusion body myopathy type 3 is characterized by congenital joint contractures (normalizing during early childhood), external ophthalmoplegia, and proximal muscle weakness. In adult cases, the muscular weakness is progressive.


prolymphocytic leukemia

description: A mature B- or T- cell leukemia with progressive clinical course. It is characterized by the presence of medium-sized lymphocytes with visible nucleoli (prolymphocytes) in the peripheral blood, bone marrow, and spleen.


benign neoplasm of nasopharynx

description: A benign neoplasm that involves the nasopharynx.


cercarial dermatitis

description: An unusual presentation of schistosomiasis characterized by a pruritic papular rash in the perigenital or periumbilical area due to an allergic reaction to schistosoma eggs deposited in the skin.


ST-elevation myocardial infarction

description: A very serious type of heart attack during which one of the heart’s major arteries (one of the arteries that supplies oxygen and nutrient-rich blood to the heart muscle) is blocked. ST-segment elevation is an abnormality detected on the 12-lead ECG.


name: lissencephaly and cerebellar hypoplasia, sheep

description: Lissencephaly and cerebellar hypoplasia that occurs in sheep.


retinitis pigmentosa 20

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPE65 gene.


congenital megacalycosis

description: Congenital megacalycosis is a rare renal malformation, characterized by non-obstructive dilation of the renal calyces as well as an increased calyceal number (12-20), with a normal renal pelvis, ureter, and bladder. It may be unilateral or bilateral and is usually asymptomatic unless complicated by nephrolithiasis and urinary tract infection.


patent urachus, mountain zebra

description: Patent urachus that occurs in mountain zebra.


name: primary central precocious puberty in male


name: mental and growth retardation with amblyopia


acrocoxomesomelic dysplasia

description: A severe, dysmorphic condition is characterized by shortening of median and distal segments of the limbs without anomalies of the spine.


single-organ polyarteritis nodosa

description: Single-organ polyarteritis nodosa (PAN) is a rare, often mild form of PAN characterized by limited disease without generalized manifestations, most often affecting the skin (cutaneous PAN), the brain, eyes, pancreas, testicles, ureter, breasts, or ovaries. Affected patients are often younger than those with systemic PAN and relapses appear to be more common.


branchiootic syndrome 1

description: Any branchiootic syndrome in which the cause of the disease is a mutation in the EYA1 gene.


name: desmin-related myopathy with Mallory body-like inclusions


name: arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome

description: Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal.


amyotrophic lateral sclerosis type 4

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


acquired central diabetes insipidus

description: Acquired central diabetes insipidus (acquired CDI) is a subtype of central diabetes insipidus (CDI), characterized by polyuria and polydipsia, due to an idiopathic or secondary decrease in vasopressin (AVP) production.


name: spastic paraplegia with myoclonic epilepsy


black widow spider envenomation

description: Local and/or systemic toxicity resulting from a bite from a black widow spider (Latrodectus species).


hereditary disease

description: A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome.


name: congenital stenosis of the inferior vena cava


amelogenesis imperfecta type 1H

description: Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ITGB6 gene.


name: cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome

description: A rare genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability characterized by unilateral or bilateral cleft lip and palate and craniofacial dysmorphism (including frontal bossing, hypertelorism, broad flat nasal bridge, cupped ears/thickened helices, and micrognathia). Additional manifestations are variable congenital cardiac anomalies, pectus excavatum, abnormalities of the hands and feet, ocular abnormalities (myopia, cataract, staphyloma), and conductive or sensorineural hearing loss.


autoimmune glomerulonephritis

description: An autoimmune form of glomerulonephritis (disease).


Usher syndrome type 2D

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


secondary syphilis

description: The secondary stage of syphilis typically that is characterized by generalized rash (including palms and soles), mucocutaneous lesions, and lymphadenopathy. It usually begins one to two months after the primary stage.


complement component 6 deficiency

description: Any classic complement early component deficiency in which the cause of the disease is a mutation in the C6 gene.


Charcot-Marie-Tooth disease type 2B5

description: A rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities.


giant axonal neuropathy 2

description: Any giant axonal neuropathy in which the cause of the disease is a mutation in the DCAF8 gene.


name: tibia, absence of, with congenital deafness


name: hyperlysinemia due to defect in lysine transport into mitochondria


Madras motor neuron disease

description: Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss.


benign Leydig cell tumor

description: A Leydig cell tumor which does not recur or metastasize. Morphologically, there is no evidence of cellular atypia, increased mitotic activity, necrosis, or vascular invasion.


localized lipodystrophy

description: Localised lipodystrophies are characterized by loss of subcutaneous tissue from small regions of the body.


name: X-linked dyserythropoetic anemia with abnormal platelets and neutropenia


name: short-rib thoracic dysplasia 7 with or without polydactyly

description: An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1.


adrenal medullary hyperplasia

description: A hyperplasia that involves the adrenal medulla.


name: pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome

description: A life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.


name: avascular necrosis of femoral head, primary, 1

description: Necrotic changes in the bone tissue of the femoral head due to interruption of blood supply.


ataxia-telangiectasia-like disorder

description: An autosomal recessive condition caused by mutation(s) in the MRE11A gene, encoding double-strand break repair protein MRE11. It is characterized by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia.


platelet-type bleeding disorder 11

description: Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the GP6 gene.


hereditary spastic paraplegia

description: Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs.


name: acute myeloid leukemia with minimal differentiation

description: An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. (WHO, 2001)


disorder of copper metabolism

description: An inherited metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis.


hairy tongue

description: A benign condition affecting the dorsum of the tongue. It is characterized by defective desquamation resulting in elongation of the filiform papillae. The dorsum of the tongue has a furry appearance and is usually stained black.


hereditary spastic paraplegia 14

description: A hereditary spastic paraplegia that has material basis in variation in the chromosome region 3q27-q28.


hypotrichosis 11

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


central nervous system leukemia

description: Leukemia infiltrating the central nervous system structures.


IgG4-related mesenteritis

description: Sclerosing mesenteritis (SM) is a rare pathological disease causing inflammation of the adipose tissue of the small bowel mesentery and is commonly associated with abdominal pain, diarrhea, nausea, weight loss, bloating and loss of appetite. The two subforms include mesenteric panniculitis (where inflammation and fatty necrosis are dominant features) and retractile mesenteritis (where fibrosis and retraction dominate).


orofaciodigital syndrome V

description: Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).


name: epidermolysis bullosa, junctional 3A, intermediate


name: periodic fever-infantile enterocolitis-autoinflammatory syndrome


name: hirsutism-skeletal dysplasia-intellectual disability syndrome


chronic wasting disease

description: A transmissible spongiform encephalopathy (prion disease) of deer and elk characterized by chronic weight loss leading to death. It is thought to spread by direct contact between animals or through environmental contamination with the prion protein (prions).


name: thumb deformity-alopecia-pigmentation anomaly syndrome

description: A rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally-placed thumbs, and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988.


name: mandibuloacral dysplasia with type A lipodystrophy

description: A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk.


name: epithelial basolateral chloride conductance regulator, rabbit, homolog of


name: Erysipelothrix infectious disease, non-human animal

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


free sialic acid storage disease

description: Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD).


name: autoinflammation with episodic fever and lymphadenopathy


name: upper limb defect-eye and ear abnormalities syndrome

description: Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation.


peroxisome biogenesis disorder 5B

description: An autosomal recessive condition caused by mutation(s) in the PEX2 gene, encoding peroxisome biogenesis factor 2. Peroxisome biogenesis disorder 5B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.


name: sebaceous gland hyperplasia, familial presenile


true myeloschisis

description: A rare open neural tube defect characterized by no other malformation than myeloschisis (spina bifida with a neural placode exposed at or below the skin plane and Chiari II malformation).


name: pulmonary hypertension owing to lung disease and/or hypoxia


name: neuropathy, hereditary sensory and autonomic, type IId


ureteral disorder

description: A non-neoplastic or neoplastic disorder affecting the ureter.


name: bacterial infectious disease, non-human animal

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


name: dyskeratosis congenita, autosomal dominant 4


name: myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy


diphtheria

description: A Gram-positive bacterial infection caused by Corynebacterium diphtheriae. It usually involves the oral cavity, pharynx, and nasal cavity. Patients develop pseudomembranes in the affected areas and manifest signs and symptoms of an upper respiratory infection. The diphtheria toxin may cause myocarditis, polyneuritis, and other systemic effects.


name: combined oxidative phosphorylation deficiency 53

description: An autosomal recessive disorder characterized by hypomyelination, microcephaly, liver dysfunction, and recurrent hypomyelination.


anterior nasal diphtheria

description: Infection of the anterior nasal structures by Corynebacterium diphtheriae.


monochloroacetic acid poisoning

description: A poisoning that is caused by exposure to monochloroacetic acid.


fibrosclerosis, multifocal

description: A rare syndrome of unknown etiology characterized by progressive fibrosis involving multiple organ sites.


pulp erosion

description: A tooth erosion, non-bacterial that involves the dental pulp.


name: epilepsy, early-onset, with or without developmental delay


name: spastic paraplegia 82, autosomal recessive

description: Any hereditary spastic paraplegia in which the cause of the disease is an autosomal recessive mutation in the PCYT2 gene.


acute myeloid leukemia, Monosomy 5

description: Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 5. (A cytogenetic aneuploidy abnormality that refers to the presence of one chromosome 5 only. It is associated with the development of refractory anemia with excess blasts, refractory anemia with multilineage dysplasia, and refractory anemia with multilineage dysplasia and ringed sideroblasts.)


Say-field-Coldwell syndrome

description: Say-Field-Coldwell syndrome is characterized by triphalangeal thumbs, brachydactyly, camptodactyly, recurrent dislocation of the patellas and relatively short stature. It has been described in a mother and her three daughters.


Bartter syndrome with hypocalcemia

description: Bartter syndrome with hypocalcemia is a type of Bartter syndrome characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH)


fibronectin glomerulopathy

description: A hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life.


benign neoplasm of cerebellum

description: A benign neoplasm that involves the cerebellum.


onychocytic matricoma

description: Onychocytic matricoma is a rare tumor of the nail that is generally benign. Affected people often experience thickening of the involved portion of the nail. The tumor may be pigmented (melanonychia - a black or brown pigmentation of the normal nail plate) or non-pigmented. The exact underlying cause of onychocytic matricoma is currently unknown. It generally occurs sporadically in people with no family history of the condition. Treatment generally consists of surgical excision.


entropion, pig

description: Entropion that occurs in pig.


name: cor triatriatum dexter, non-human animal

description: Cor triatriatum dexter that occurs in non-human animals.


description: This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature.


name: congenitally short costocoracoid ligament

description: Congenital shortness of the costocoracoid ligament is a rare anomaly characterized by fixation of the scapula to the first rib, resulting in a cosmetic deformity with rounding of the shoulders and loss of the anterior clavicular contour.


name: Spondyloenchondrodysplasia with immune dysregulation


juvenile absence epilepsy

description: A genetic epilepsy with onset occurring around puberty. Juvenile absence epilepsy is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks.


AA amyloidosis, goat

description: AA amyloidosis that occurs in goat.


endotheliitis

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


coloboma, llama

description: Coloboma that occurs in llama.


name: central retinal vein occlusion with macular edema


name: epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive


ophthalmomyiasis

description: An myiasis caused by infection with Oestrus ovis.


name: gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy


dermis disorder

description: A disease that involves the dermis.


name: cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome

description: Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements.


Wilson disease, dog

description: Wilson disease that occurs in dog.


central precocious puberty 1

description: Any central precocious puberty in which the cause of the disease is a mutation in the KISS1R gene.


Sinding-Larsen-Johansson disease

description: Sinding-Larsen-Johansson disease is a type of osteochondrosis affecting the attachment of the patellar tendon to the patella and characterized by tenderness and localized swelling of the patella.


Rotor syndrome

description: Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology.


ulcer disease

description: A lesion on the surface of the skin or a mucous surface, produced by the sloughing of inflammatory necrotic tissue.


name: external auditory canal atresia-vertical talus-hypertelorism syndrome


uveal disorder

description: A non-neoplastic or neoplastic disorder that affects the uvea. Representative examples include uveitis, chorioretinitis, and uveal melanoma.


primary ciliary dyskinesia 30

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC151 gene.


name: congenital myopathy with reduced type 2 muscle fibers


supranuclear palsy, progressive, 1

description: Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia.


description: Clonal myeloid disorders that possess both dysplastic and proliferative features but are not properly classified as either MYELODYSPLASTIC SYNDROMES or MYELOPROLIFERATIVE disorderS.


name: sodium-potassium-ATPase activity of red cell


name: holoprosencephaly-radial heart renal anomalies syndrome

description: Holoprosencephaly-radial heart renal anomalies syndrome is characterized by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder.


hereditary spastic paraplegia 12

description: Autosomal dominant spastic paraplegia type 12 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus.


name: cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1

description: Any dysequilibrium syndrome in which the cause of the disease is a mutation in the VLDLR gene.


name: X-linked lethal multiple pterygium syndrome

description: X-linked form of lethal multiple pterygium syndrome.


name: epidermolysis bullosa, junctional 4, intermediate


dominant beta-thalassemia

description: Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia.


dermatoosteolysis, Kirghizian type

description: Dermatoosteolysis, Kirghizian type, is characterized by recurrent skin ulceration, arthralgia, fever, peri-articular osteolysis, oligodontia and nail dystrophy. This disease has been described in five sibs in a family of Kirghizian origin (Central Asia). Three of the sibs also presented with keratitis leading to visual impairment or blindess. Transmission is autosomal recessive.


name: disseminated visceral giant cell angiitis

description: A necrotizing vasculitis characterized by widespread small-vessel giant cell angitis and extravascular granulomas.


dentine erosion

description: A tooth erosion, non-bacterial that involves the dentine.


name: dermatocardioskeletal syndrome boronne type


Nevada syndrome

description: NEVADA (Nevus Epidermicus Verrucosus with AngioDysplasia and Aneurysms) syndrome is a rare, life-threatening, cutaneous disease characterized by a keratinocytic epidermal nevus presenting thick, hystrix-like, white or brownish hyperkeratosis associated with multiple extracutaneous vascular malformations, including angiodysplasia that involves large-vessel arteriovenous shunts that may be fatal during the neonatal period.


3MC syndrome 2

description: Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC11 gene.


name: hypogonadotropic hypogonadism 14 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the WDR11 gene.


hypophysitis

description: Inflammation of the pituitary gland.


gonorrhea

description: A common sexually transmitted bacterial infection caused by Neisseria gonorrhoeae. It is transmitted through vaginal, oral, or anal intercourse. Infected individuals may be asymptomatic. Symptoms in males include burning sensation during urination, discharge from the penis, and painful swelling of the testes. Symptoms in females include painful urination, vaginal discharge, and vaginal bleeding between periods. If untreated, the infection may lead to pelvic inflammatory disease.


hereditary spastic paraplegia 32

description: Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21.


multidrug-resistant tuberculosis

description: A type of drug-resistant tuberculosis that is resistant to both rifampicin and isoniazid, the two most powerful anti-TB drugs.


name: hypercholesterolemia, autosomal dominant, 3

description: Any familial hypercholesterolemia in which the cause of the disease is a mutation in the PCSK9 gene.


hereditary spastic paraplegia 36

description: Autosomal dominant spastic paraplegia type 36 (SPG36) is a complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy.


name: SIN3A-related intellectual disability syndrome due to a point mutation


nocturnal enuresis, 2

description: Nocturnal enuresis where the child has been dry for at least 6 months but enuresis has recurred.


name: microcephaly 13, primary, autosomal recessive

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


Eng-Strom syndrome

description: Eng-Strom syndrome is characterized by intrauterine growth retardation and intermittent locking of the finger joints. It has been described in two individuals: a mother and her daughter. The mode of transmission is autosomal dominant.


name: intellectual developmental disorder, autosomal dominant 74


ABeta amyloidosis, Italian type

description: Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage.


name: dandy-walker malformation with occipital cephalocele, autosomal dominant


name: nasal cavity and paranasal sinus lethal midline granuloma

description: An aggressive, progressive, and destructive lesion affecting the nasal cavities, paranasal sinuses, and the palate. The vast majority of cases are malignant lymphoproliferations affecting the midline of the face in patients with nasal type extranodal NK/T-cell lymphoma.


name: Koolen-de Vries syndrome due to a point mutation


body dysmorphic disorder

description: Preoccupations with appearance or self-image causing significant distress or impairment in important areas of functioning.


name: developmental and epileptic encephalopathy, 88


Marchiafava-Bignami disease

description: Marchiafava Bignami disease is defined by characteristic demyelination of the corpus callosum (erosion of the protective covering of nerve fibers joining the 2 hemispheres of the brain). The disease seems to most often affect severe and chronic alcoholics in their middle or late adult life. Early symptoms may include depression, paranoia, psychosis, or dementia. Seizures are common, and hemiparesis, aphasia, abnormal movements, and ataxia may sometimesprogress to coma and/or death. The cause of Marchiafava Bignami disease, including the potential role of nutritional deficiency, remains unknown. Improvement and recovery of some individuals has been reported. Treatment focuses on nutritional support and rehabilitation from alcoholism.


intracranial arterial disease

description: Pathological conditions involving arteries in the skull, such as arteries supplying the cerebrum, the cerebellum, the brain stem, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes.


name: pituitary deficiency due to Rathke's pouch cysts


name: brain small vessel disease 1 with or without ocular anomalies

description: Any porencephaly in which the cause of the disease is a mutation in the COL4A1 gene.


name: myalgia-eosinophilia syndrome associated with tryptophan

description: A rare systemic disease characterized by severe myalgia and peripheral eosinophilia associated with tryptophan dietary supplementation. The symptoms do not subside after tryptophan discontinuation. Clinical presentation includes muscle tenderness and cramps, fatigue, weakness, paresthesia, peripheral edema, arthralgia, dyspnea, skin rash, dry mouth, and development of scleroderma-like skin abnormalities.


14q12 microdeletion syndrome

description: 14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months.


name: ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive


epidermolysis bullosa

description: Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister very easily. Blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of epidermolysis bullosa: dystrophic epidermolysis bullosa Epidermolysis bullosa simplex Junctional epidermolysis bullosa Kindler Syndrome Identifying the exact type can be hard because there are many subtypes of EB. Within each type or subtype, a person may be mildly or severely affected. The disease can range from being a minor inconvenience to completely disabling, and fatal in some cases. Most types of EB are inherited. The inheritance pattern may be autosomal dominant or autosomal recessive. Management involves protecting the skin, reducing friction against the skin, and keeping the skin cool.


aorta atresia

description: An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta.


lip disorder

description: A disease involving the lip.


KIZ-related retinopathy

description: Any retinopathy caused by variants in the KIZ gene.


idiopathic inflammatory myopathy

description: Idiopathic form of inflammatory myopathy.


name: leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema


name: sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

description: A syndrome is characterized by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia.


canine gastrointestinal stromal tumor

description: A gastrointestinal stromal tumor occurring in a dog.


pyridoxal phosphate-responsive seizures

description: Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate.


staphylococcal infection

description: An infection caused by Staphylococcus.


immunoproliferative disorder

description: Disorders characterized by abnormal proliferation of primary cells of the immune system or by excessive production of immunoglobulins.


name: sickle cell-hemoglobin d disease syndrome

description: A rare, genetic hemoglobinopathy characterized by all the characteristics of sickle cell anemia (SCA). Clinical course is similar to SCA, including acute episodes of pain, splenic infarction and splenic sequestration crisis, vaso-occlusive crisis, acute chest syndrome, ischemic brain injury, osteomyelitis and avascular bone necrosis. The genotype is characterized by an HbS allele in combination with the HbD variant, beta121Glu>Gln.


phosphorus metabolism disease

description: A metabolic disorder that affects the phosphate homeostasis.


purine metabolism disease

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


Bardet-Biedl syndrome 11

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TRIM32 gene.


immunodeficiency 37

description: Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL10 gene.


name: paternal uniparental disomy of chromosome 13

description: Paternal uniparental disomy of chromosome 13 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.


name: advance sleep phase syndrome, familial, 4


name: autosomal recessive spastic paraplegia type 69


name: developmental and epileptic encephalopathy, 43

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB3 gene.


ectodermal dysplasia 9, hair/nail type

description: Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the HOXC13 gene.


name: X-linked dominant hypophosphatemic rickets

description: X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth.


water intoxication

description: A condition resulting from the excessive retention of water with sodium depletion.


name: MELAS syndrome caused by mutation in MTTQ

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


juvenile overlap myositis

description: Juvenile overlap myositis is a rare juvenile idiopathic inflammatory myopathy characterized by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (e.g. systemic lupus erythematosus, localized scleroderma, diabetes). Cardiac involvement has been reported in some patients.


pyruvate dehydrogenase E2 deficiency

description: Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood.


limb body wall complex

description: Limb body wall complex (LBWC) is characterized by severe multiple congenital anomalies in the fetus with exencephaly/encephalocele, thoraco- and/or abdominoschisis (anterior body wall defects) and limb defects, with or without facial clefts.


orofacial cleft 11

description: Any orofacial cleft in which the cause of the disease is a mutation in the BMP4 gene.


name: benign vaginal mixed epithelial and mesenchymal neoplasm

description: A non-metastasizing neoplasm that arises from the vagina and is characterized by the presence of benign epithelial and benign mesenchymal elements.


name: mitochondrial complex I deficiency, mitochondrial type


name: deafness with labyrinthine aplasia, microtia, and microdontia

description: Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome.


Powassan encephalitis

description: A disease caused by infection with Powassan virus.


ophthalmic herpes zoster

description: Virus infection of the Gasserian ganglion and its nerve branches characterized by pain and vesicular eruptions with much swelling. Ocular involvement is usually heralded by a vesicle on the tip of the nose. This area is innervated by the nasociliary nerve.


name: early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome


name: right pulmonary artery, anomalous origin of, familial


name: melanoma, cutaneous malignant, susceptibility to, 5


name: pectus excavatum-macrocephaly-dysplastic nails syndrome

description: Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992.


name: developmental and epileptic encephalopathy, 37

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FRRS1L gene.


name: developmental and epileptic encephalopathy, 47

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FGF12 gene.


name: multiple epiphyseal dysplasia, with miniepiphyses

description: Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported.


description: Jessner lymphocytic infiltration of the skin (JLIS) is a chronic benign cutaneous disease characterized by asymptomatic non-scaly erythematous papules or plaques on the face and neck.


theileriasis

description: Infection of cattle, sheep, or goats with protozoa of the genus theileria. This infection results in an acute or chronic febrile condition.


name: carnitine palmitoyltransferase II deficiency

description: Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form.


name: hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities


name: humerofemoral hypoplasia with radiotibial ray deficiency


familial adenomatous polyposis 4

description: An autosomal recessive tumor predisposition syndrome characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer. Proliferative lesions in other tissues may also occur.


tinea imbricata

description: A tinea corporis that results in fungal infection located in skin, has material basis in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition.


name: CHRNG-associated hypo-akinesia disorder of prenatal onset

description: A spectrum of presentations resulting from biallelic protein-altering variation in CHRNG. Inactivation of the receptor during early development leads to prenatal hypo-akinesia; subsequent phenotypes are a consequence of this hypo-akinesia and are thought to be dependent upon timing and severity of the anomaly at the neuromuscular junction. A range of phenotypes varying in severity (including both lethal and non-lethal presentations) have been reported, but typically include joint contractures, pterygia, dysmorphic features, vertebral and thoracic anomalies, and additional variable abnormalities. There are no clear genotype-phenotype correlations between the lethal and non-lethal presentations of this spectrum; both inter- and intra-familial variability have been reported, with the same variants being observed in both lethal and non-lethal cases.


critical illness polyneuropathy

description: Polyneuropathy arising in intensive care unit patients.  It is a common complication of severe sepsis and is thought to represent a neurologic manifestation of systemic inflammatory response syndrome (SIRS).


congenital prothrombin deficiency

description: Congenital factor II deficiency is an inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous bleeding symptoms.


name: microangiopathy and leukoencephalopathy, pontine, autosomal dominant


scorpion envenomation

description: Scorpion envenomation is a rare intoxication caused by a scorpion sting which typically manifests with localized pain, edema, erythema, and paresthesias at the site of the sting and, when severe, progresses to produce systemic symptoms of variable severity that include respiratory difficulties, abnormal systemic blood pressure, cardiac arrhythmia, and a combination of parasympathetic (i.e. excessive salivation and lacrimation, diaphoresis, miosis, frequent urination, diarrhea, vomiting, priapism) and sympathetic (e.g. hyperthermia, hyperglycemia, mydriasis) manifestations. Neurological manifestations may also be associated, such as abnormal eye movements, blurred vision, agitation and restlessness, as well as muscle fasciculations and spasms. Signs and symptoms are highly variable and in most severe cases may lead to cardiogenic shock and pulmonary edema.


name: spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy


mixed malaria

description: A malaria that involves infection with more than one species of Plasmodium at the same time.


oculopharyngodistal myopathy 2

description: An autosomal dominant condition caused by mutation(s) in the GIPC1 gene, encoding PDZ domain-containing protein GIPC1. It is characterized by distal muscle weakness and ophthalmoplegia, with a slowly progressive course.


focal segmental glomerulosclerosis 7

description: Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the PAX2 gene.


Thomsen and Becker disease

description: A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).


infantile spasms-broad thumbs syndrome

description: A rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990.


necatoriasis

description: A disorder caused by an infection with hookworms of the genus Necator, which settle in the host's small intestine, and cause abdominal pain, diarrhea, weight loss, and anemia.


hypertensive encephalopathy

description: Encephalopathy resulting from hypertension.


name: childhood multilocular cystic kidney neoplasm

description: A cystic neoplasm which arises from the kidney and occurs in children. It includes the cystic partially differentiated nephroblastoma and cases in which nephroblastomatous elements are not present.


parasitic skin disorder

description: Skin diseases caused by ARTHROPODS; HELMINTHS; or other parasites.


name: biliary, renal, neurologic, and skeletal syndrome


pelvic varices

description: A varicose disease that involves the pelvic region of trunk.


hepatitis, non-human animal

description: Inflammation of the liver in non-human animals.


autosomal dominant vibratory urticaria

description: An autosomal dominant disease characterized by localized hives and systemic manifestations in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum.


name: autosomal recessive familial Mediterranean fever

description: Autosomal recessive form of familial Mediterranean fever.


multifocal dystonia

description: A dystonia that involves two or more unrelated body parts.


name: partial deletion of the short arm of chromosome 7

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


glycogen storage disease V

description: Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance.


name: hemophagocytic lymphohistiocytosis, familial, 6


name: partial trisomy/tetrasomy of chromosome 5


name: diffuse idiopathic pulmonary neuroendocrine cell hyperplasia

description: A very rare condition characterized by generalized proliferation of pulmonary neuroendocrine cells. It manifests as progressive cough and dyspnea. It is considered a precursor for pulmonary carcinoid tumor.


myxedema

description: A condition characterized by severe hypothyroidism that is caused by autoimmune thyroid gland disorders, surgical reduction of thyroid tissue, radiation exposure, and viral infections. Signs and symptoms include generalized fatigue, lethargy, increased body weight, pale, edematous and thickened skin, low blood pressure, constipation and cold intolerance.


anonychia with flexural pigmentation

description: Anonychia with flexural pigmentation is characterized by anonychia and skin abnormalities (hyper- and hypopigmentation in axillae and groins, dry palmar and plantar skin leading to sore and cracked soles). It has been described in a mother and her two children. The mode of transmission is autosomal dominant.


name: spinocerebellar ataxia, autosomal recessive 27


name: vitiligo, progressive, with intellectual disability and urethral duplication


tooth disorder

description: A disease involving the calcareous tooth.


name: partial duplication of the short arm of chromosome 10


name: maternal uniparental disomy of chromosome 13

description: Maternal uniparental disomy of chromosome 13 is an uniparental disomy of maternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.


benign occipital epilepsy

description: Benign occipital epilepsy is a rare, genetic neurological disorder characterized by visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment of consciousness are typically associated with the Panayiotopoulos type, while visual hallucinations, ictal blindness and post-ictal headache are commonly observed in the Gastaut type. Electroencephalographic findings in both types are similar and include bilateral, synchronous, high voltage spike-wave complexes in a normal background activity located predominantly in the occipital lobes.


name: dystrophic epidermolysis bullosa, nails only

description: Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB) that shows no blistering and that is characterized by dystrophic or absent nails.


AL amyloidosis, horse

description: AL amyloidosis that occurs in horse.


acrodermatitis enteropathica

description: Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure.


description: Gamma-glutamylcysteine synthetase deficiency is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported.


Roch-Leri mesosomatous lipomatosis

description: Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984.


schistosomiasis

description: An infectious disease caused by parasitic trematodes of the genus Schistosoma that colonize human blood vessels and release eggs that can cause granulomatous reactions leading to acute (swimmer's itch or acute schistosomiasis syndrome) or chronic disease. Depending on where the eggs lodge, manifestations of chronic schistosomiasis can include diarrhea, abdominal pain, loss of appetite, anemia (intestines), hepatosplenism, periportal fibrosis with portal hypertension (liver), urogenital inflammation and scarring, hematuria and dysuria (genitourinary system). Other patients may be asymptomatic.


erythrokeratodermia variabilis

description: A rare genetic chronic skin disorder characterized by hyperkeratosis and transient erythema.


cystic neoplasm

description: A benign or malignant neoplasm that contains a single or multiple cystic spaces. Examples include cystadenoma, mucinous cystadenocarcinoma, and serous cystadenocarcinoma.


name: physiological malfunction arising from mental factor

description: A dysfunction in biological function that is due to a psychological process.


name: vitamin K-dependent clotting factors, combined deficiency of, type 1

description: Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z.


rigid spine muscular dystrophy 1

description: An inherited muscular dystrophy caused by mutations in the SEPN1 gene. It is characterized by severe limitation in flexion of the dorsolumbar and cervical spine, due to contracture of the spinal extensors. It leads to loss of movement of the spine and the thoracic cage.


pontocerebellar hypoplasia, type 2F

description: Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN15 gene.


hereditary spastic paraplegia 4

description: Autosomal dominant spastic paraplegia type 4 (SPG4) is a form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset.


uveoparotid fever

description: A manifestation of sarcoidosis marked by chronic inflammation of the parotid gland and the uvea.


primary pediatric heart tumor

description: Cardiac tumors are benign or malignant neoplasms arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic.


Fuchs heterochromic iridocyclitis

description: Fuchs heterochromic iridocyclitis (FHI) is an ocular disease of unknown etiology occurring in a very small percentage (0.5-6.2%) of uvietis cases, characterized by diffuse iris heterochromia or atrophy, keratic precipitates in the absence of synechiae, and in some cases evolving to glaucoma and vitreous opacities.


osteochondrosis, pig

description: Osteochondrosis that occurs in pig.


diaphragma sellae meningioma

description: A meningioma that affects the diaphragma sellae.


Norwegian scabies

description: A rare, severe form of scabies that is associated with immunosuppression. It is characterized by an immense number of mites and hyperkeratotic crusted lesions, and is usually accompanied by lymphadenopathy and eosinophilia.


cutaneous liposarcoma

description: A malignant adipose tissue neoplasm of the skin.


fibular aplasia-ectrodactyly syndrome

description: Fibular aplasia-ectrodactyly syndrome is characterized by fibular aplasia and ectrodactyly. Less than 50 familial and sporadic cases have been reported in the literature. Shortening of the femur, a curved tibia, severe foot anomalies and pathologies of the hip, knee and ankle may also be present. The disorder is probably inherited as an autosomal dominant trait, with reduced penetrance, especially in females.


name: mitochondrial complex 2 deficiency, nuclear type 3


nephrotic syndrome, type 8

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


Rieger anomaly

description: Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of AxenfeldBs anomaly.


acquired rippling muscle disease

description: The acquired form of RMD. Although RMD most often is reported with autosomal dominant inheritance, some sporadic cases are found, and an association with other diseases such as myasthenia gravis has also been reported.


tibio-fibular synostosis

description: Tibio-fibular synostosis is a rare, non-syndromic limb malformation characterized by fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis, frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee.


ring chromosome 11

description: Ring chromosome 11 syndrome is an autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and café-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported.


name: junctional epidermolysis bullosa inversa

description: Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina.


alpha-mannosidosis, non-human animal

description: Alpha-mannosidosis that occurs in non-human animals.


deletion 5q35

description: Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3 . The most significant anomaly is a recurring deletion in 5q35.2 comprising the NSD1 gene that causes Sotos syndrome that is characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare, characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature due to growth hormone deficiency, and a variety of minor anomalies such as mildly bell-shaped chest, minor congenital heart defects and a distinct facial gestalt. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly, and significant cardiac defects (e.g. atrial septal defect with/without atrioventricular conduction defects, Ebstein anomaly, tetralogy of Fallot) linked to haploinsufficiency of NKX2.5 (5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment.


name: partial deletion of the short arm of chromosome 16


name: peritoneal well differentiated papillary mesothelioma

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


scoliosis, non-human animal

description: Scoliosis that occurs in non-human animals.


pulmonary branch stenosis

description: Narrowing of the lumen of the right or left pulmonary artery branch.


malignant histiocytosis, cattle

description: Malignant histiocytosis that occurs in cattle.


pachyonychia congenita 4

description: Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6B gene.


systemic mycosis

description: A mycosis that involves the lungs, abdominal viscera, bones and or central nervous system.


thyroid dyshormonogenesis 6

description: Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOX2 gene.


orofaciodigital syndrome VIII

description: Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit.


description: Prominent glabella B microcephaly B hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions.


name: hair defect with photosensitivity and intellectual disability syndrome

description: Syndrome with the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit, without a demonstrable metabolic aberration. It has been described in three sisters born to consanguineous parents.


prosopagnosia, hereditary

description: An instance of prosopagnosia (disease) that is caused by an inherited modification of the individual's genome.


allergic asthma

description: A asthma with a basis in a pathological type I hypersensitivity reaction.


name: cone-rod synaptic disorder, congenital nonprogressive


name: myeloid leukemia associated with down syndrome

description: An acute megakaryocytic leukemia occurring in children with Down syndrome and that has material basis in mutation in the GATA1 gene.


microphthalmia, sheep

description: Microphthalmia that occurs in sheep.


name: congenital disorder of glycosylation, type IIq


name: early-onset calcifying leukoencephalopathy-skeletal dysplasia


name: maternal uniparental disomy of chromosome 9

description: Maternal uniparental disomy of chromosome 9 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.


familial goiter, golden hamster

description: Familial goiter that occurs in golden hamster.


name: glaucoma with elevated episcleral venous pressure


name: isolated congenital nasal pyriform aperture stenosis


spina bifida, domestic cat

description: Spina bifida that occurs in domestic cat.


peritoneal multicystic mesothelioma

description: A cystic mesothelioma that arises from the peritoneum and usually affects young to middle aged females. Grossly, it presents as a large multiloculated tumor mass, usually in the pelvic peritoneum. Histologically it is characterized by the presence of multiple cysts that are lined by one or more layers of mesothelial cells that do not show atypia. Patients usually present with abdominal or pelvic mass and pain. The clinical course is indolent. The tumor may recur, but transformation to diffuse malignant mesothelioma is rare.


protozoan infections, animal

description: Infections with unicellular organisms formerly members of the subkingdom Protozoa. The infections may be experimental or veterinary.


name: mitochondrial complex III deficiency nuclear type 1

description: Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the BCS1L gene.


description: X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiovascular septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding.


hydranencephaly, cattle

description: Hydranencephaly that occurs in cattle.


cervix melanoma

description: An aggressive malignant tumor of melanocytic origin that arises from the cervix.


internal hirudiniasis

description: A condition resulting from accidental ingestion of leeches in drinking water. They may attach themselves to the wall of the pharynx, nasal cavity, or larynx.


name: ocular melanoma with extraocular extension

description: A melanoma arising from and extending beyond the structures of the eye.


name: ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features


acquired pituitary hormone deficiency

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


Dictyocaulus infectious disease

description: Infection with nematodes of the genus dictyocaulus. In deer, cattle, sheep, and horses the bronchi are the site of infestation.


Kandori fleck retina

description: Kandori fleck retina is a rare, genetic retinal dystrophy characterized by irregular, sharply defined, yellowish-white lesions of variable size that are distributed mainly in the nasal equatorial region of the retina, with a tendency to confluence, that are not associated with any vascular or optic nerve abnormalities. They frequently manifest as mild and stationary night blindness.


GM1 gangliosidosis type 1

description: GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis with variable neurological and systemic manifestations.


hypoparathyroidism, domestic cat

description: Hypoparathyroidism that occurs in domestic cat.


name: intermediate collagen VI-related muscular dystrophy

description: A form of congenital muscular dystrophy characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, attainment of independent ambulation which is subsequently lost and uniform respiratory insufficiency during the teenage years.


vestibulocochlear nerve disorder

description: A disease involving the vestibulocochlear nerve.


Meckel syndrome, type 6

description: Any Meckel syndrome in which the cause of the disease is a mutation in the CC2D2A gene.


skin infection

description: An inflammatory process affecting the skin, caused by bacteria, viruses, parasites, or fungi. Examples of bacterial infection include carbuncles, furuncles, impetigo, erysipelas, and abscesses. Examples of viral infection include shingles, warts, molluscum contagiosum, and pityriasis rosea. Examples of parasitic infection include scabies and lice. Examples of fungal infection include athlete's foot, yeast infection, and ringworm.


name: anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis

description: A rare, congenital malformation syndrome characterized by the association of anterior ocular chamber cleavage disorder with developmental delay, short stature and congenital hypothyroidism. Additional manifestations include cerebellar hypoplasia, tracheal stenosis, narrow external auditory meatus, and hip dislocation. There have been no further description in the literature since 1995.


amelogenesis imperfecta type 1F

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


orofaciodigital syndrome type II

description: Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas.


achondrogenesis type IB

description: Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.


high output heart failure

description: High-output heart failure is a heart condition that occurs when the cardiac output is higher than normal.


name: cerebellar atrophy with seizures and variable developmental delay


spinocerebellar ataxia type 36

description: Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia.


name: lethal short-limb skeletal dysplasia, Al Gazali type


canine distemper

description: A viral disease caused by canine distemper virus that affects a wide variety of animal families, including domestic and wild species of dogs, coyotes, foxes, pandas, wolves, ferrets, skunks, raccoons, and large cats, as well as pinnipeds, some primates, and a variety of other species.


grade II meningioma

description: An atypical meningioma which may recur in approximately 29-40% of the cases. This category includes the atypical meningioma, chordoid meningioma, and clear cell meningioma.


gram-negative bacterial infections

description: Infections caused by bacteria that show up as pink (negative) when treated by the gram-staining method.


postpoliomyelitis syndrome

description: Postpoliomyelitis syndrome (PPS) is a neurologic disorder characterized by the development of new neuromuscular symptoms such as progressive muscular weakness or abnormal muscle fatigability occurring in survivors of the acute paralytic form of poliomyelitis, 15-40 years after recovery from the disease, and that is unexplained by other medical causes. Other manifestations that can occur gradually include generalized fatigue, muscle atrophy, muscle and joint pain, intolerance to cold, and difficulties sleeping, swallowing or breathing.


Carney complex, type 1

description: Any Carney complex in which the cause of the disease is a mutation in the PRKAR1A gene.


orofaciodigital syndrome type 12

description: Orofaciodigital syndrome type 12 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (septum hypertrophy) and central nervous system abnormalities (myelomeningocele, Sylvius aqueduct stenosis, corpus callosum agenesis, vermis hypoplasia), in addition to oral, facial and digital malformations (gingival frenulae, bifid tongue, supernumerary teeth, macrocephaly, hypertelorism, pre- and post-axial polydactyly in hands, preaxial polydactyly in feet and club feet). Skeletal anomalies, such as short tibiae and central, Y-shaped metacarpals, are also associated.


name: mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)

description: Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the OPA1 gene.


polycystic kidney disease, dog

description: Polycystic kidney disease that occurs in dog.


amelogenesis imperfecta, type 3A

description: Any amelogenesis imperfecta in which the cause of the disease is a mutation in the FAM83H gene.


Abruzzo-Erickson syndrome

description: Abruzzo-Erikson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.


testicular granulosa cell tumor

description: A rare sex cord-stromal tumor that arises from the testis. It is characterized by the presence of granulosa-like cells and Call-Exner bodies. There are two variants described, the adult and the juvenile.


name: vasculitis, lymphocytic, cutaneous small vessel


inborn metal metabolism disorder

description: An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals.


cranio-osteoarthropathy

description: Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis.


extracutaneous mastocytoma

description: A localized tumor consisting of mature mast cells. (WHO, 2001) -- 2003


spinocerebellar ataxia type 29

description: Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.


inherited prekallikrein deficiency

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


name: radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome

description: A syndrome is characterized by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait.


name: basal cell carcinoma, susceptibility to, 7

description: Any skin basal cell carcinoma in which the cause of the disease is a mutation in the TP53 gene.


talo-patello-scaphoid osteolysis

description: Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis, described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E), in the absence of renal disease. Autosomal recessive inheritance has been suggested.


stromal corneal dystrophy

description: The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy.


name: intellectual developmental disorder with macrocephaly, seizures, and speech delay


platelet-type bleeding disorder 9

description: Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ITGA2 gene.


split hand

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


name: combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1


name: thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies


cerebral arterial disease

description: Pathological conditions of intracranial arteries supplying the cerebrum. These diseases often are due to abnormalities or pathological processes in the anterior cerebral artery; middle cerebral artery; and posterior cerebral artery.


name: spastic ataxia-dysarthria due to glutaminase deficiency


name: qualitative or quantitative defects of gamma-sarcoglycan


disorder of GNAS inactivation

description: Any endocrine system disorder in which the cause of the disease is inactivation of the GNAS gene. Phenotypes include pseudohypoparathyroidism Ia, Ib, and Ic (PHP-Ia, -Ib, -Ic), pseudopseudohypoparathyroidism (PPHP), progressive osseous heteroplasia (POH), and osteoma cutis (OC).


hypoalphalipoproteinemia, primary, 1

description: Any ypoalphalipoproteinemia in which the cause of the disease is a mutation in the ABCA1 gene.


methanol poisoning

description: Methanol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the alcohol dehydrogenase (ADH)-mediated production of formic acid (which is poisonous to the central nervous system), and characterized by dizziness, nausea, vomiting, confusion, metabolic acidosis, visual disturbances (which if left untreated can lead to blindness), coma, and death (due to respiratory failure).


hyperparathyroidism, dog

description: Hyperparathyroidism that occurs in dog.


isolated glycerol kinase deficiency

description: Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD ).


idiopathic bilateral vestibulopathy

description: Idiopathic bilateral vestibulopathy is a rare otorhinolaryngologic disease characterized by dysfunction of both peripheral labyrinths or of the eighth nerves, which presents with persistent unsteadiness of gait (particularly in darkness, during eye closure or under impaired visual conditions, or when standing/walking on uneven, soft or wobbly ground) and oscillopsia associated with head movements. The disease may be progressive, presenting no episodes of vertigo, or sequential, presenting recurrent episodes of vertigo.


name: genital herpes simplex type 2 infectious disorder

description: Any herpes simplex type 2 infectious disease that involves the genitals.


name: developmental and epileptic encephalopathy, 11

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN2A gene.


Mendelian encephalopathy

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


feline oral squamous cell carcinoma

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


name: cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay


name: muscular dystrophy, congenital, with or without seizures


aleutian mink disease, human

description: A human disease caused by infection with Aleutian mink disease parvovirus.


ostertagiasis

description: A disease of herbivorous mammals, particularly cattle and sheep, caused by stomach worms of the genus ostertagia.


familial goiter, cattle

description: Familial goiter that occurs in cattle.


congenital laryngeal palsy

description: Congenital laryngeal palsy is a rare larynx anomaly characterized by unilateral or bilateral paralysis of the vocal cords as a result of dysfunction of the motor nerve supply to the larynx. Patients typically present at birth (or shortly thereafter) with stridor, weak or breathy cry, dysphonia or aphonia, feeding or aspiration difficulties and, occasionally, respiratory compromise. Neurological disease, masses that cause compression and aberrant vessels are often associated. Most cases resolve spontaneously over 6-12 months.


name: telangiectasia, hereditary hemorrhagic, type 5

description: Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the GDF2 gene.


name: inflammatory bowel disease, immunodeficiency, and encephalopathy


name: premature aging syndrome, non-human animal

description: Premature aging syndrome that occurs in non-human animals.


split hand, unilateral

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


name: maternal uniparental disomy of chromosome 22


name: tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities


carpotarsal osteochondromatosis

description: Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs.


name: myopathy, congenital, with respiratory insufficiency and bone fractures


renal hypodysplasia/aplasia 2

description: Any renal agenesis in which the cause of the disease is a mutation in the FGF20 gene.


heavy chain deposition disease

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


Fitz-Hugh-Curtis syndrome

description: Fitz-Hugh-Curtis syndrome (FHCS) is a condition in which a woman has swelling of the tissue covering the liver as a result of having pelvic inflammatory disease (PID). Symptoms most often include pain in the upper right abdomen just below the ribs, fever, nausea, or vomiting. The symptoms of pelvic inflammatory disease - pain in the lower abdomen and vaginal discharge -are oftenpresent as well. FHCS is usually caused by an infection of chlamydia or gonorrhea that leads to PID; it is not known why PIDprogresses toFHCS in some women. Fitz-Hugh-Curtis syndrome is treatedwith antibiotics.


cutaneous solitary mastocytoma

description: A variant of cutaneous mastocytosis which occurs as a single lesion usually in infants. It is found mostly in the wrist and trunk and there is no atypical cytomorphology.


spastic monoplegia

description: A spastic cerebral palsy that affects only one limb.


name: metachromatic leukodystrophy, juvenile form

description: Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin.Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes.


name: ectrodactyly and ectodermal dysplasia without cleft lip/palate


eastern equine encephalitis

description: Eastern equine encephalitis (EEE) is an acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that is characterized by the onset of flulike symptoms including fever, chills, weakness, headache, vomiting, abdominal pain with diarrhea, myalgia, leucocytosis, and hematuria, rapidly progressing to diffuse central nervous system (CNS) involvement with confusion, somnolence, or even coma. Seizures, which may progress to status epilepticus and neurologic sequelae, cranial nerve palsies, and photophobia may occur. EEE is associated with a high rate of morbidity and mortality.


name: spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia


name: proximal chromosome 18q deletion syndrome

description: Chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material from the part of the long (q) arm near the center of chromosome 18.


vascular malformation

description: A non-neoplastic disorder that is the result of defects of vascular morphogenesis.


ophthalmomandibulomelic dysplasia

description: Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms.


2q23.1 microduplication syndrome

description: 2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioral problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported.


Perrault syndrome

description: Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.


pineal region meningioma

description: A meningioma that affects the pineal gland.


hamel cerebro-palato-cardiac syndrome

description: Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.


name: acute myeloid leukemia with t(6;9)(p23;q34)

description: Acute myeloid leukemia with t(6;9)(p23;q34) is a rare subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported.


name: qualitative or quantitative defects of alpha-sarcoglycan


name: ophthalmoplegic neuromuscular disorder with abnormal mitochondria


lichen planus pigmentosus

description: Lichen planus (LP) pigmentosus is a rare variant of cutaneous lichen planus characterized by the presence of hyperpigmented lichenoid lesions in sun-exposed or flexural areas of the body.


name: acute myeloid leukemia with mutated NPM1

description: An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features. It usually responds to induction therapy.


name: erythrokeratodermia variabilis et progressiva 5


name: combined immunodeficiency due to partial RAG1 deficiency

description: A form of combined T and B cell immunodeficiency (CID) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.


disorder of methylamine metabolism

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


ABCD syndrome

description: An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has material basis in a mutation in the endothelin B receptor gene (EDNRB).


diabetic peripheral angiopathy

description: Diabetic angiopathy is a form of angiopathy associated with diabetic complications.


osteogenesis imperfecta type 17

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


protein-energy malnutrition

description: A nutritional deficit that is caused by inadequate protein or calorie intake.


urolithiasis, domestic cat

description: Urolithiasis that occurs in domestic cat.


name: intellectual disability, autosomal recessive 53


vitelliform macular dystrophy 4

description: Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG1 gene.


xeroderma pigmentosum group G

description: Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC5 gene.


name: neurologic disease, infantile multisystem, with osseous fragility


hepatic coma

description: A syndrome characterized by central nervous system dysfunction in association with liver failure, including portal-systemic shunts. Clinical features include lethargy and confusion (frequently progressing to coma); asterixis; nystagmus, pathologic; brisk oculovestibular reflexes; decorticate and decerebrate posturing; muscle spasticity; and bilateral extensor plantar reflexes (see reflex, babinski). electroencephalography may demonstrate triphasic waves. (From Adams et al., Principles of Neurology, 6th ed, pp1117-20; Plum & Posner, Diagnosis of Stupor and Coma, 3rd ed, p222-5)


autosomal genetic disease

description: A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes.


pyeloureteritis cystica

description: A non-neoplastic lesion of the ureter characterized by the presence of multiple submucosal small cysts in the ureteral wall.  It is caused by inflammation due to urinary tract stones or infection.


limited dorsal myeloschisis

description: A rare dysraphic abnormality characterized by a persistent connection between the neural tissue and overlying skin. The stalk-like connection consists of a fibroneural tract (mainly composed of fibrous attenuated mesenchymal tissue and neural elements without an epithelial lining) connecting the skin lesion to the underlying dorsal surface of the spinal cord. Fibroneural stalk varies in thickness and complexity and they pass through the deep fascia, a bifid lamina/ the interspinous ligament, and the dura. It can be associated with filum anomaly. Chiari II malformation is not present.


osteochondrosis, dog

description: Osteochondrosis that occurs in dog.


GNE myopathy

description: Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps.


laryngitis

description: An acute or chronic, bacterial or viral inflammatory process affecting the larynx. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness.


name: rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome


name: ophthalmoplegia-intellectual disability-lingua scrotalis syndrome


primary ciliary dyskinesia 25

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF4 gene.


autosomal recessive distal titinopathy

description: A rare myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs. Described as a more severe tibial muscular dystrophy phenotype, distal titinopathy is associated with earlier onset and progression to include soleus muscle and proximal muscles.


tibial hemimelia, cattle

description: Tibial hemimelia that occurs in cattle.


name: Ewing sarcoma/peripheral primitive neuroectodermal tumor

description: A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. These tumors may occur in the soft tissues or the bones. Pain and the presence of a mass are the most common clinical symptoms.


cone-rod dystrophy 18

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAB28 gene.


name: Ehlers-Danlos syndrome, dermatosparaxis type

description: A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility.


name: combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia


thrombocytopenia 4

description: Any thrombocytopenia in which the cause of the disease is a mutation in the CYCS gene.


name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1


rinderpest

description: A viral disease of cloven-hoofed animals caused by morbillivirus. It may be acute, subacute, or chronic with the major lesions characterized by inflammation and ulceration of the entire digestive tract. The disease was declared successfully eradicated worldwide in 2010.


name: congenital absence of both lower leg and foot, bilateral


erythematosquamous dermatosis

description: A skin condition that primarily affects the scalp and face and presents as scaly inflammation. Examples include itchy, dry skin and dandruff.


anodontia, non-human animal

description: Anodontia that occurs in non-human animals.


name: hereditary leiomyomatosis and renal cell cancer

description: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer.


interdigitating dendritic cell sarcoma

description: A neoplastic proliferation of spindle to ovoid cells which show phenotypic features similar to those of interdigitating dendritic cells. The clinical course is generally aggressive. (WHO, 2008)


osteogenic neoplasm

description: A benign, intermediate, or malignant bone-forming neoplasm. Representative examples include osteoma, osteoblastoma, and osteosarcoma.


atypical polypoid adenomyoma

description: An adenomyoma characterized by the presence of marked glandular architectural complexity.


letterer-Siwe disease

description: A multifocal, multisystem form of Langerhans-cell histiocytosis. There is involvement of multiple organ systems including the bones, skin, liver, spleen, and lymph nodes. Patients are usually infants presenting with fever, hepatosplenomegaly, lymphadenopathy, bone and skin lesions, and pancytopenia.


nemaline myopathy 6

description: Any nemaline myopathy in which the cause of the disease is a mutation in the KBTBD13 gene.


malignant renal pelvis neoplasm

description: A primary or metastatic malignant neoplasm that affects the renal pelvis.


congenital toxoplasmosis

description: Toxoplasma infection that is present from birth.


name: Leydig cell hypoplasia due to complete LH resistance


name: maternal uniparental disomy of chromosome 20

description: Maternal uniparental disomy of chromosome 20 (UPD 20) is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy.


name: combined oxidative phosphorylation deficiency 34


spinal muscular atrophy, type III

description: Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild 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: disorder of carbohydrate transmembrane transport and absorption


Pthirus pubis infestation

description: Infestation of the pubic hair by the pthirus pubis parasite which results in mild to intense itching and macular lesions. The parasite, also known as crab lice, is transmitted through skin to skin contact with an infected person or through direct contact with infested objects.


name: von Willebrand disease (hereditary or acquired)

description: Hereditary or acquired coagulation disorder characterized by a qualitative or quantitative deficiency of the von Willebrand factor. The latter plays an important role in platelet adhesion. Signs and symptoms include bruises, nose bleeding, gum bleeding following a dental procedure, heavy menstrual bleeding, and gastrointestinal bleeding.


ADAR-related type 1 interferonopathy

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