axial spondylometaphyseal dysplasia

description: Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones.Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine,upper arms and upper legs, and results in shortened stature.For reasons not well understood,this rare skeletal dysplasia is also associated withearly and progressivevision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown.It is thought to be inherited in an autosomal recessive fashion.


centrifugal lipodystrophy

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

description: Centrifugal lipodystrophy is a rare, acquired, localized lipodistrophy characterized by single or, occasionally, multiple, centrifugally progressive, asymptomatic to sometimes mildly tender, hypopigmented, lipoatrophic skin depressions with weakly erymatheous inflammatory borders, typically associated with regional ipsilateral lymph nodes swelling. Lesions typically occur on lower trunk (in particular groin and abdomen region), followed by upper trunk (axilla and neighboring regions) and, rarely, neck and head. It is usually not associated with systemic disease and is typically self-resolving.


isolated hemihyperplasia

description: Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma and hepoblastoma.


torsion dystonia 17

description: A dystonia characterized by autosomal recessive inheritance of progressive dystonia, dysphonia, dysarthria and neck torticollis that has material basis in variation in the chromosome region 20p11.2-q13.12.


familial bicuspid aortic valve

description: A rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).


immunodeficiency 76

description: An autosomal recessive primary immunologic disorder characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Laboratory studies show T-cell lymphopenia and may show variable B-cell or immunoglobulin abnormalities. More variable features found in some patients include lymphoma and neurologic features. Although bone marrow transplantation may be curative, many patients die in childhood.


name: autosomal recessive pseudohypoaldosteronism type 1

description: Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs.


name: congenital heart defects, multiple types, 3


cystic fibrosis, pig

description: Cystic fibrosis that occurs in pig.


seminal vesicle acute gonorrhea

description: Acute form of gonococcal seminal vesiculitis.


hyperparathyroidism 2 with jaw tumors

description: An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts.


name: hereditary angioedema with normal C1inh not related to F12 or PLG variant


trench fever

description: An intermittent fever characterized by intervals of chills, fever, and splenomegaly each of which may last as long as 40 hours. It is caused by bartonella quintana and transmitted by the human louse.


name: ectodermal dysplasia neurosensory deafness


severe congenital nemaline myopathy

description: Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM) characterized by severe hypotonia with little spontaneous movement in neonates.


name: encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities


infectious disease, non-human animal

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


epidermitis, exudative, of swine

description: An acute generalized dermatitis of pigs which occurs from 5 to 35 days of age, characterized by sudden onset, with morbidity of 10 to 90% and mortality of 5 to 90%. The lesions are caused by Staphylococcus hyos but the bacterial agent is unable to penetrate the intact skin. Abrasions on the feet and legs or lacerations on the body frequently precede infection. In acute cases, a vesicular-type virus may be the predisposing factor. The causative organism is inhibited by most antibiotics. (Merck Veterinary Manual, 5th ed)


opisthorchiasis

description: Infection with flukes of the genus Opisthorchis.


chromosome 13 disorder

description: Chromosomal disorder in which chromosome 13 is affected.


hyperekplexia, non-human animal

description: Hyperekplexia that occurs in non-human animals.


st. Louis encephalitis

description: A viral encephalitis caused by the St. Louis encephalitis virus (encephalitis virus, st. louis), a flavivirus. It is transmitted to humans and other vertebrates primarily by mosquitoes of the genus culex. The primary animal vectors are wild birds and the disorder is endemic to the midwestern and southeastern United States. Infections may be limited to an influenza-like illness or present as an aseptic meningitis or encephalitis. Clinical manifestations of the encephalitic presentation may include seizures, lethargy, myoclonus, focal neurologic signs, coma, and death. (From Adams et al., Principles of Neurology, 6th ed, p750)


adult onset pityriasis rubra pilaris

description: A pityriasis rubra pilaris that occurs around the fifth or sixth decade of life.


chronic pain syndrome

description: Chronic form of disorder involving pain.


name: neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities


name: combined oxidative phosphorylation deficiency 28

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SLC25A26 gene.


bullous dystrophy, macular type

description: A genetic disorder characterized by formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers and nail abnormalities. Two families (one of whom was Dutch and the other Italian) have been described up to now, in which only males were affected. Transmission is X-linked recessive. The bullous dystrophy locus has been mapped to Xq26.3 in the Italian family and to Xq27.3 in the Dutch family.


name: metachromatic leukodystrophy, adult form


Nairobi sheep disease

description: An arbovirus infection of sheep and goats transmitted by ticks. It is characterized by high fever and hemorrhagic gastroenteritis.


name: undifferentiated connective tissue syndrome

description: An autoimmune disorder which does not meet classification criteria used to establish the presence of other well-defined connective tissue diseases.


name: deafness-small bowel diverticulosis-neuropathy syndrome

description: Deafness-small bowel diverticulosis-neuropathy syndrome is characterized by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis).


name: peroxisome biogenesis disorder due to PEX11B defect

description: Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX11B gene.


name: mitochondrial complex 1 deficiency, nuclear type 36


cataract 32 multiple types

description: A cataract that has material basis in mutation in the region 14q22-q23.


name: autosomal recessive congenital ichthyosis 4B

description: Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma.


syndromic disease, non-human animal

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


carbon baby syndrome

description: Carbon baby syndrome, also known as universal acquired melanosis, is a rare form of hyperpigmentation. The skin of affected infants progressively darkens over the first years of life in the absence of other symptoms. The cause of the condition is unknown.


testicular sex cord-stromal neoplasm

description: A benign or malignant tumor that arises from the testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the tumor or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, ten percent of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group.


name: congenital insensitivity to pain syndrome, Marsili type


name: neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features


primary ciliary dyskinesia 23

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ARMC4 gene.


name: skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome


Meier-Gorlin syndrome 5

description: Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC6 gene.


myoclonic epilepsy of Lafora 1

description: Any Lafora disease in which the cause of the disease is a variation in the EPM2A gene.


transient pseudohypoaldosteronism

description: Transient pseudohypoaldosteronism is a renal tubulopathy characterized by renal tubular resistance to aldosterone, characterized by hyponatremia, metabolic acidosis and hyperkalemia and manifesting as dehydration, secondary to urinary tract malformation and infections in infants.


name: neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies


name: immunodeficiency 115 with autoinflammation


name: arhinia, choanal atresia, and microphthalmia


description: Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1).


morphine dependence

description: Strong dependence, both physiological and emotional, upon morphine.


podoconiosis

description: A disease of the lymphatic vessels of the lower extremities that is caused by chronic exposure to irritant soils.


name: mitochondrial complex 1 deficiency, nuclear type 4


name: uterine corpus endometrial stromal sarcoma

description: A uterine corpus sarcoma originating from the endometrial stroma. It is further subdivided into low grade and high grade endometrial stromal sarcoma.


muscular dystrophy, Duchenne type, pig

description: Muscular dystrophy, Duchenne type that occurs in pig.


inflammatory leiomyosarcoma

description: A morphologic variant of leiomyosarcoma characterized by the presence of an inflammatory infiltrate admixed with malignant spindle cells.


name: autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity


spina bifida, snow leopard

description: Spina bifida that occurs in snow leopard.


name: ciliary dyskinesia, primary, 48, without situs inversus


retinitis pigmentosa 3

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


myotonic dystrophy

description: An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies.


acrocephalopolysyndactyly

description: A common presentation of craniosynostosis and polysyndactyly.


name: microcephaly, seizures, and developmental delay


familial rhabdoid tumor

description: A neoplastic syndrome most often caused by mutations in the hSNF5/INI1 tumor suppressor gene. It is characterized by the development of an atypical teratoid/rhabdoid tumor in infancy and early childhood. This highly aggressive tumor develops in the central nervous system as an isolated lesion or in combination with extrarenal or renal rhabdoid tumor. Patients may also develop other central nervous system malignancies including medulloblastoma, supratentorial primitive neuroectodermal tumor, and choroid plexus carcinoma.


cataract 10 multiple types

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA1 gene.


atrial fibrillation, familial, 3

description: Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNQ1 gene.


name: B-lymphoblastic leukemia/lymphoma with IAMP21

description: A B-lymphoblastic leukemia/lymphoma that is characterized by amplification of a portion of chromosome 21.


name: autoimmune disorder of musculoskeletal system

description: A hypersensitivity reaction type II disease that involves the musculoskeletal system.


retinitis pigmentosa 46

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the IDH3B gene.


sporadic hemiplegic migraine

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


name: methemoglobinemia due to deficiency of methemoglobin reductase


focal dermal hypoplasia

description: A syndrome characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.


name: basal ganglia calcification, idiopathic, 8, autosomal recessive


dry age related macular degeneration

description: Dry age related macular degeneration is characterized by the presence of age-related deposits called drusen and atrophy.


Lelis syndrome

description: Lelis syndrome is characterized by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans.


hereditary spastic paraplegia 53

description: A very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A.


name: convulsive disorder, familial, with prenatal or early onset


symmetrical thalamic calcifications

description: Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding, and facial diplegia or weakness.


hereditary sensory neuropathy X-linked

description: A hereditary sensory neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life.


name: indolylacroyl glycinuria with intellectual disability


chronic pulmonary heart disease

description: Heart disease which occurs as a result of a primary pulmonary disease. Cor pulmonale most often manifests as right ventricular hypertrophy; it can also lead to right ventricular failure.


name: autosomal recessive nonsyndromic hearing loss 88

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ELMOD3 gene.


name: combined oxidative phosphorylation deficiency

description: A mitochondrial oxidative phosphorylation disorder in which multiple mitochondrial respiratory chain complexes.


GUCY2D-related dominant retinopathy

description: A retinopathy caused by a heterozygous gain of function or dominant-negative variant or in the GUCY2D gene.


exudative vitreoretinopathy

description: Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness.


name: myeloid neoplasm associated with PDGFRA rearrangement

description: A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic eosinophilic leukemia or, less commonly, as acute myeloid leukemia or T-lymphoblastic leukemia with eosinophilia. Patients usually present with eosinophilia, anemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy.


name: neoplasm with perivascular epithelioid cell differentiation

description: A soft tissue neoplasm composed of perivascular epithelioid cells. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis.


urachal sinus

description: Urachal sinus is a type of congenital urachal anomaly resulting from the failure of the umbilical end of the urachus to close, without continuity to the bladder, and that is usually asymptomatic but can present with continuous cloudy umbilical discharge, tender midline infraumbilical mass and fever when infected.


alpha-mannosidosis, cattle

description: Alpha-mannosidosis that occurs in cattle.


hereditary spastic paraplegia 2

description: Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG.


triopia

description: A craniofacial malformation with prosencephalic duplication; the presence of three eyes.


mirror agnosia

description: An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field.


description: Macrocephaly-short stature-paraplegia syndrome is characterized by macrocephaly and midface hypoplasia, intellectual deficit, short stature, spastic paraplegia and severe central nervous system anomalies (hydrocephalus and Dandy-Walker malformation). It has been described in two unrelated adults.


Reoviridae infectious disease

description: Infections produced by reoviruses, general or unspecified.


description: Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms.


name: Hao-Fountain syndrome due to 16p13.2 microdeletion

description: A partial deletion of the short arm of chromosome 16 characterized by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioral profile includes impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors.


mesothelial neoplasm

description: A benign or malignant neoplasm arising from mesothelial cells. Mesothelial cells are the lining cells of the pleura and peritoneum. -- 2003


thoracic disk degenerative disorder

description: Any degenerative disorder affecting one or more vertebral disks of the thoracic spine.


duplication/inversion 15q11

description: Isodicentric chromosome 15 syndrome is a chromosome abnormality that affects many different parts of the body. As the name suggests, people with this condition have an extra chromosome (called an isodicentric chromosome 15) which is made of two pieces of chromosome 15 that are stuck together end-to-end. Although the severity of the condition and the associated features vary from person to person, common signs and symptoms include poor muscle tone in newborns; developmental delay; mild to severe intellectual disability; delayed or absent speech; behavioral abnormalities; and seizures. Most cases of isodicentric chromosome 15 syndrome occur sporadically in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person.


trigeminal autonomic cephalalgia

description: A headache disorder characterized by episodes of unilateral, short lasting pain and associated ipsilateral cranial autonomic symptoms.


urethra leiomyoma

description: A benign smooth muscle neoplasm arising from the urethra. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.


granulomatous endometritis

description: Chronic inflammation of the endometrium characterized by the presence of epithelioid granulomas. Causes include tuberculosis, fungal infections, parasitic infections, and sarcoidosis.


Oguchi disease-2

description: Any Oguchi disease in which the cause of the disease is a mutation in the GRK1 gene.


avian influenza

description: Infection of domestic and wild fowl and other birds with influenza A virus. Avian influenza usually does not sicken birds, but can be highly pathogenic and fatal in domestic poultry.


cytophagic histiocytic panniculitis

description: Cytophagic histiocytic panniculitis (CHP) is a very rare form of panniculitis manifesting as recurrent multiple subcutaneous nodules (which may progressively become ecchymotic and ulcerated), and histologically characterized by lobular panniculitis with lymphocytic and histiocytic infiltration in the subcutaneous adipose tissue.


tetrasomy 5p

description: Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, venriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia).


aminoacylase 1 deficiency

description: Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms.


GUCY2D-related recessive retinopathy

description: A retinopathy caused by biallelic variants in the GUCY2D gene.


name: congenital pseudomyotonia, non-human animal

description: Congenital pseudomyotonia that occurs in non-human animals.


name: hypouricemia, familial renal, due to tubular hypersecretion


name: painful orbital and systemic neurofibromas-marfanoid habitus syndrome


acquired motor neuron disease

description: An instance of motor neuron disease that is acquired during the lifetime of the individual.


name: acromesomelic dysplasia, Campailla Martinelli type


name: autosomal dominant Charcot-Marie-Tooth disease type 2K

description: Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy.


name: coronary artery disease, autosomal dominant 2

description: Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene.


name: sucrosuria, hiatus hernia and intellectual disability


agenesis of the superior vena cava

description: Agenesis of the superior vena cava (SVC) is a rare congenital anomaly of the great veins characterized by unilateral or bilateral complete absence of the SVC. Unilateral agenesis is mainly asymptomatic (most of the time diagnosed incidentally) and patients usually have otherwise normal heart structure. Bilateral agenesis, however, is frequently associated with other congenital cardiac anomalies and/or conduction abnormalities (such as tetralogy of Fallot, atrial septal defect) and typically present symptoms of SVC syndrome.


name: azoospermia, obstructive, with nephrolithiasis


chronic rheumatic pericarditis

description: Chronic form of rheumatic pericarditis.


nasal cavity inverting papilloma

description: A benign neoplasm that arises from the ciliated respiratory mucosa that lines the nasal cavity. It results from the invagination and proliferation of epithelial cells in the underlying stroma. Clinical manifestations include nasal obstruction, epistaxis, and anosmia. It has the tendency to recur and extend to adjacent structures. Inverted papillomas are occasionally associated with the development or presence of carcinomas, usually squamous cell carcinomas.


neuronal ceroid lipofuscinosis 8

description: Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN8 gene.


Charcot-Marie-Tooth disease type 4F

description: Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones.


Bartter disease type 4B

description: A Bartter disease that has material basis in simultaneous mutation in both the CLCNKA and CLCNKB genes.


name: Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita


name: Pelizaeus-Merzbacher disease, transitional form

description: The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD.


cryohydrocytosis

description: A rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade.


name: hypogonadotropic hypogonadism 11 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TACR3 gene.


adrenomyeloneuropathy

description: An adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males. Both males and females can be affected with AMN.


description: Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the RNF113A gene.


canine rhabdomyosarcoma

description: A malignant mesenchymal neoplasm arising from skeletal muscle that occurs in dogs.


Lowry-Wood syndrome

description: Lowry-Wood syndrome is characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive.


ATF6-related retinopathy

description: A retinopathy caused by biallelic variants in the AFT6 gene.


leukodystrophy, non-human animal

description: Leukodystrophy that occurs in non-human animals.


name: familial reactive perforating collagenosis

description: Familial reactive perforating collagenosis is a very rare genetic skin disease characterized by transepidermal elimination of collagen fibers presenting as recurrent spontaneously involuting keratotic papules or nodules.


Leber congenital amaurosis 6

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPGRIP1 gene.


eosinophilic pustular folliculitis

description: Eosinophilic pustular folliculitis (EPF) is a skin disorder characterized by recurring itchy, red or skin-colored bumps and pustules (bumps containing pus). The condition is named after the fact that skin biopsies of this disorder find eosinophils (a type of immune cell) around hair follicles. The papules mostly appear on the face, scalp, neck and trunk and may persist for weeks or months. EPF affects males more than females.There are several variants of EPF includingclassic eosinophilic pustular folliculitis (mainly occurring in adults in Japan); HIV-associated EPF, also referred to as immunosuppression-associated EPF; and infantile EPF (with onset from birth or within the first year of life). Whether these are distinct disorders rather than variants of one disorder is controversial, partly because the underlying cause of EFP is not known.Several treatments have been described with variable results, including various oral or topical medications and phototherapy. In patients with HIV-associated disease, antiretroviral therapy tends to greatly diminish symptoms or even eliminate the condition.


anophthalmia cleft palate micrognathia

description: A syndrome characterized by bilateral anophthalmos, hypospadias, bifid scrotum, micrognathia, and cleft palate with normal chromosomes.


name: fibrosis of extraocular muscles, congenital, 2

description: Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the PHOX2A gene.


oligocone trichromacy

description: Oligocone trichromacy is a rare non-progressive form of cone photoreceptor dysfunction characterized by reduced visual acuity, normal retinal appearance, absent or reduced cone responses on electroretinography but normal color vision.


rotator cuff syndrome

description: Tear of one or more of the tendons of the four rotator cuff muscles of the shoulder. A rotator cuff 'injury' can include any type of irritation or overuse of those muscles or tendons, and is among the most common conditions affecting the shoulder.


description: Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterized by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked.


ulerythema ophryogenesis

description: Ulerythema ophryogenesis is characterized by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection.


name: autosomal recessive ataxia due to PEX2 deficiency


amino acid metabolism disease

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


name: microcephaly, short stature, and impaired glucose metabolism 1


name: developmental anomaly of metabolic origin


name: cerebellar ataxia and neurosensory deafness


Loeys-Dietz syndrome 4

description: Any Loeys-Dietz syndrome in which the cause of the disease is a mutation in the TGFB2 gene.


Terrien marginal degeneration

description: A distinct marginal thinning of the cornea which causes high degree of against-the-rule astigmatism


description: A congenital disorder of glycosylation with a SSR3 deficiency that affects the brain, lungs and gastrointestinal system, and presents with clinical phenotypes such as seizures, intellectual disability, developmental delay, microcephaly and abnormal brain structure.


congenital dyserythropoietic anemia

description: Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA.


name: sickle cell-hemoglobin E disease syndrome

description: A rare, genetic hemoglobinopathy usually characterized by mild microcytic hemolysis and, very rarely, vaso-occlusive complications. Severe manifestations have been reported, including hematuria, splenic infarction, acute chest syndrome, acute episodes of pain and reversible bone marrow necrosis. The genotype is characterized by an HbS allele in combination with an HbE variant (beta26glu>lys); symptoms are due to the low allelic expression of HbE leading to HbS predominance (65+/-5%).


childhood malignant melanoma

description: A melanoma that occurs during childhood.


name: pregnancy disorder with abortive outcome

description: The unintentional or intentional loss of a pregnancy before 22 weeks gestation.


name: intellectual developmental disorder with impaired language and dysmorphic facies


hypotrichosis 9

description: A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 10q11.23-q22.3.


isolated agammaglobulinemia

description: Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy.


ring chromosome 7

description: Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis).


name: ichthyosis-intellectual disability-dwarfism-renal impairment syndrome

description: Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterized by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive.


aluminosis

description: Aluminosis is characterized as diffuse interstitial fibrosis which is mainly located in the upper and middle lobes of the lung. In advanced stages it is characterized by subpleural bullous emphysema with an increased risk of spontaneous pneumothorax.


cocaine abuse

description: Disorders related or resulting from use of cocaine.


name: frontonasal dysplasia with alopecia and genital anomaly

description: Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.


cesium poisoning

description: A heavy metal poisoning that is caused by exposure to cesium.


rectal duplication

description: Rectal duplication is a rare congenital anorectal malformation characterized by an egg-like, cystic, mucus-filled mass, composed of intestinal mucosal lining and smooth muscle tissue. Commonly they present in childhood with symptoms of recurrent urinary tract infections, gastroenteritis, obstruction, perianal sepsis and rectal bleeding. Drainage of mucus or pus from the anus is also a typical presenting sign. The majority are found in the retro-rectal space where they communicate with, or are contiguous to, the rectum.


scarlet fever

description: A streptococcal infection, mainly occurring among children, that is characterized by a red skin rash, sore throat, and fever.


name: microgastria-limb reduction defect syndrome

description: This syndrome is characterized by the association of microgastria with a limb reduction defect.


Hepadnaviridae infectious disease

description: Virus diseases caused by the hepadnaviridae.


central diabetes insipidus

description: Central diabetes insipidus (CDI) is a hypothalamus-pituitary disease characterized by polyuria and polydipsia due to a vasopressin (AVP) deficiency. It can be inherited or acquired (hereditary CDI and acquired CDI).


premature ovarian failure 11

description: Any primary ovarian failure in which the cause of the disease is a mutation in the ERCC6 gene.


name: hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome

description: This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.


Ascaridida infectious disease

description: Infections with nematodes of the order ascaridida.


well-differentiated liposarcoma

description: A locally aggressive malignant neoplasm composed of mature adipocytes showing cell size variation and nuclear atypia. It is often associated with the presence of hyperchromatic multinucleated stromal cells, and varying numbers of lipoblasts. There are three histologic subtypes, sclerosing, inflammatory, and spindle cell liposarcoma. These tumors do not usually metastasize unless they undergo dedifferentiation.


name: retinal dystrophy and microvillus inclusion disease


hyperekplexia 4

description: Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by {2:Piard et al., 2018}).nnFor a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 (OMIM:149400).


name: congenital infiltrating lipomatosis of the face


1q44 microdeletion syndrome

description: 1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.


multiple intestinal atresia

description: A rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns.


name: congenital muscular dystrophy caused by variation in POMGNT2

description: Any congenital muscular dystrophy in which the cause of the disease is a variation in the POMGNT2 gene.


name: postaxial polydactyly type A, unilateral


inherited auditory system disease

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


familial Mediterranean fever

description: Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.


axillary lymphadenitis

description: An infection of the lymph nodes in the axilla.


name: autosomal recessive nonsyndromic hearing loss 24

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


primary ciliary dyskinesia 1

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI1 gene.


name: B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)

description: A precursor lymphoid neoplasm which is composed of B-lymphoblasts and carries a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein. It has a favorable clinical outcome.


hypochondriasis

description: A somatoform disorder in which an individual is preoccupied with having a serious illness despite not having been given a corroborating diagnosis.


ethylmalonic encephalopathy

description: Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities.


glycogen storage disease VI

description: Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease.


name: qualitative or quantitative defects of titin


name: Yersinia pseudotuberculosis infectious disease

description: Infections with bacteria of the species yersinia pseudotuberculosis.


acute myeloid leukemia, t(11;17)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(11;17). (A cytogenetic abnormality that involves a translocation between chromosomes 11 and 17.)


myopia 6

description: Any myopia in which the cause of the disease is a mutation in the SCO2 gene.


pseudohypoaldosteronism type 2

description: A rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function.


crush syndrome

description: A medical condition characterized by major shock and renal failure after a crushing injury to skeletal muscle.


mixed germ cell tumor

description: A malignant germ cell tumor characterized by the presence of at least two different germ cell components. The different germ cell components include choriocarcinoma, embryonal carcinoma, yolk sac tumor, teratoma, and seminoma. It occurs in the ovary, testis, and extragonadal sites including central nervous system and mediastinum.


benign neoplasm of corpus uteri

description: A benign neoplasm that involves the body of uterus.


name: hyperphosphatemia, polyuria, and seizures


de Barsy syndrome

description: A rare autosomal recessive genetic disorder characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.


name: non-acquired pituitary hormone deficiency


toxascariasis

description: Infections with nematodes of the genus toxascaris.


moderate hypophosphatasia

description: Moderate hypophosphatasia is a rare, moderate form of hypophosphatasia characterized by defective mineralization of bone and/or teeth, premature loss of teeth with intact roots, and reduced serum alkaline phosphatase (ALP) activity. Individuals can present with this form of hypophosphatasia in infancy, childhood, or adulthood.


spinocerebellar ataxia 47

description: A rare hereditary ataxia characterized by adult onset of slowly progressive cerebellar degeneration with gait ataxia, dysmetria, dysarthria, and in some cases diplopia. Cognitive functions are normal, and seizures are absent. Magnetic resonance imaging reveals mild atrophy of the cerebellar vermis.


AP-4 deficiency syndrome

description: A genetic disorder associated with variation(s) in the AP4 genes: AP4B1, AP4E1, AP4M1, and AP4S1. The phenotypes observed in individuals with genetic variants in these genes are often complex and include intellectual disability, spastic paraplegia, microcephaly, brain abnormalities, and seizures.


spina bifida, sheep

description: Spina bifida that occurs in sheep.


kyphoscoliotic heart disease

description: Evidence of kyphoscoliotic heart disease.


granuloma inguinale

description: A condition resulting from infection by Klebsiella granulomati, which is characterized by ulcerative lesions of the genitalia.


aneuploidy

description: Chromosomal disorder consisting of the presence a chromosomal abnormality in which there is an addition or loss of chromosomes within a set.


corneal dystrophy, Fuchs endothelial, 3

description: Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the TCF4 gene.


encephalitis lethargica

description: A form of encephalitis, the etiology of which is uncertain, that is characterized by lethargy and headache.


mixed cryoglobulinemia type III

description: Type III mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins containing both polyclonal IgGs and polyclonal IgMs.


renal agenesis, dog

description: Renal agenesis that occurs in dog.


Usher syndrome type 1G

description: Any Usher syndrome in which the cause of the disease is a mutation in the USH1G gene.


cancerophobia

description: An overwhelming, irrational, and persistent fear of being diagnosed with cancer.


name: male infertility with teratozoospermia due to single gene mutation

description: Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail.


name: corpus callosum dysgenesis hypopituitarism


benign thyroid gland neoplasm

description: A benign neoplasm arising from the thyroid gland.


laryngo-onycho-cutaneous syndrome

description: LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites.


Meier-Gorlin syndrome 4

description: Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDT1 gene.


nephronophthisis 7

description: Any nephronophthisis in which the cause of the disease is a mutation in the GLIS2 gene.


retinal capillary malformation

description: Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles.


TCF12-related craniosynostosis

description: Any syndromic craniosynostosis in which the cause of the disease is a mutation in the TCF12 gene.


name: combined oxidative phosphorylation deficiency 32


postauricular lymphadenitis

description: Inflammation of the postauricular lymph nodes.


name: glycerol kinase deficiency, infantile form

description: Infantile glycerol kinase deficiency (GKD) is a severe form of GKD characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy.


name: feline bronchioloalveolar lung carcinoma

description: Bronchioloalveolar lung carcinoma that occurs in a cat.


name: frontonasal dysplasia Klippel feil syndrome


isolated dystonia

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


Bartter disease type 3

description: Classic Bartter syndrome is a type of Bartter syndrome, characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.


monocular esotropia

description: A form of ocular misalignment characterized by an excessive convergence of the visual axes, resulting in a 'cross-eye' appearance. An example of this condition occurs when paralysis of the lateral rectus muscle causes an abnormal inward deviation of one eye on attempted gaze.


name: hereditary sensory and autonomic neuropathy type 4

description: Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever.


filarial elephantiasis

description: Parasitic infestation of the human lymphatic system by wuchereria bancrofti or brugia malayi. It is also called lymphatic filariasis.


name: macrogyria, pseudobulbar palsy and intellectual disability


childhood acute lymphoblastic leukemia

description: An acute lymphoblastic leukemia occurring during childhood. The majority of cases are B-acute lymphoblastic leukemias. Approximately 15% of the cases are T-acute lymphoblastic leukemias.


name: vertebral hypersegmentation and orofacial anomalies


epithelial-stromal TGFBI dystrophy

description: Any corneal dystrophy (disease) in which the cause of the disease is a mutation in the TGFBI gene.


name: congenital generalized lipodystrophy type 2

description: Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the BSCL2 gene.


name: congenital hypotonia, epilepsy, developmental delay, and digital anomalies


cataract 42

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA2 gene.


spina bifida, non-human animal

description: Spina bifida that occurs in non-human animals.


name: adult progressive spinal muscular atrophy, Aran Duchenne type

description: A progressive muscle weakness and atrophy of the limbs that irregularly affects certain muscles, while it spares others.


name: autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis


name: polyneuropathy, inflammatory demyelinating, chronic


name: paternal uniparental disomy of chromosome 21

description: Paternal uniparental disomy of chromosome 21 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: odontomatosis-aortae esophagus stenosis syndrome

description: Odontoma-dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia.


inverse Marcus-Gunn phenomenon

description: Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported.


vasculogenic impotence

description: Inability to achieve and maintain an erection (erectile dysfunction) due to defects in the arterial blood flow to the penis, defect in venous occlusive function allowing blood drainage (leakage) from the erectile tissue (corpus cavernosum penis), or both.


name: infantile neuronal ceroid lipofuscinosis

description: A form of neuronal ceroid lipofuscinosis (NCL) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities.


name: isolated autosomal dominant hypomagnesemia, Glaudemans type

description: Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal.


bulbar polio

description: A form of paralytic poliomyelitis affecting neurons of the medulla oblongata of the brain stem. Clinical features include impaired respiration, hypertension, alterations of vasomotor control, and dysphagia. Weakness and atrophy of the limbs and trunk due to spinal cord involvement is usually associated. (From Adams et al., Principles of Neurology, 6th ed, p765)


limb ischemia

description: A ischemia that involves the limb.


name: idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation


dysautonomia, domestic cat

description: Dysautonomia that occurs in domestic cat.


Basedow's coma

description: A polygenic and multifactorial disease that develops as a result of a complex interplay between genetic susceptibility and environmental and endogenous factors, which leads to the loss of immune tolerance to thyroid antigens and in particular to the TSH receptor.


name: pyridoxine-dependent epilepsy caused by ALDH7A1 mutant


name: Niemann-Pick disease type C, severe early infantile neurologic onset


vagina leiomyosarcoma

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


streptococcal meningitis

description: An infectious meningitis caused by infection with Streptococcus.


name: pituitary deficiency due to empty sella turcica syndrome


cutaneous botryomycosis

description: A botromycosis that involves the skin and subcutaneous tissue (it is a more common type).


name: malignant giant cell tumor of soft parts

description: An undifferentiated pleomorphic sarcoma characterized by the presence of osteoclast-like giant cells and cellular pleomorphism.


Drosophila C virus infection

description: A virus infection induced by Drosophila C virus (DCV) which is a positive-sense RNA virus belonging to the Dicistroviridae family. This natural pathogen of the model organism Drosophila melanogaster is commonly used to investigate antiviral host-defense in flies, which involves both RNA interference and inducible responses.


feline progressive histiocytosis

description: A condition occurring in cats characterized by solitary or multiple cutaneous nodules and papules, which may metastasize late in the course of the disease. Lesions consist of poorly circumscribed histiocytic infiltrates of the superficial and deep dermis, with variable extension into the subcutis.


miliaria

description: A small (one mm or less) vesicular, papular or pustular monomorphous rash, which is associated with heat, fever or occlusion of sweat glands.


name: developmental delay, language impairment, and ocular abnormalities


L1 syndrome

description: L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis.


coinfection

description: The simultaneous infection of a host by multiple pathogen species.


name: hydrocephalus, congenital, 3, with brain anomalies


Mycobacterium avium complex disease

description: An infection that is caused by Mycobacterium avium.


name: Pseudomonas aeruginosa infectious disease


name: nasal cavity and paranasal sinus neoplasm

description: A benign or malignant neoplasm that affects the nasal cavity or paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.


name: kallikrein, decreased urinary activity of


microphthalmia, Nile tilapia

description: Microphthalmia that occurs in Nile tilapia.


glycerol kinase deficiency, adult form

description: Adult glycerol kinase deficiency (GKD) is an uncommon form of GKD diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults.


Gaucher disease type III

description: Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1.


name: endometrioid stromal and related neoplasms of the cervix

description: A category of rare neoplasms that arise from the cervix. It includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma.


Marie Unna hereditary hypotrichosis

description: A rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty.


bacterial sexually transmitted disease

description: Bacterial diseases that are potentially transmitted or propagated by sexual conduct.


connective and soft tissue neoplasm

description: A benign, intermediate, or malignant neoplasm that affects the connective and soft tissue.


myofibrillar myopathy, horse

description: Myofibrillar myopathy that occurs in horse.


extrarenal rhabdoid tumor

description: A rhabdoid tumor which arises in the soft tissues. It occurs in infants and children and may be associated with loss of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm.


name: echinococcus granulosus infectious disease

description: An disease or disorder caused by infection with Echinococcus granulosus.


name: radial deficiency-tibial hypoplasia syndrome


achondrogenesis

description: Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2.


myopathy, dog

description: Myopathy that occurs in dog.


ureter leiomyoma

description: A benign smooth muscle neoplasm arising from the ureter. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.


name: intellectual developmental disorder, X-linked 110


intracranial abscess

description: An abscess that is located in the intracranial space.


name: erythrokeratodermia variabilis et progressiva 3


alexithymia

description: An agnosia that is a deficiency in understanding, processing, or describing emotions.


name: precursor T-cell acute lymphoblastic leukemia


name: mirror polydactyly-vertebral segmentation-limbs defects syndrome

description: Mirror polydactyly-vertebral segmentation-limbs defects syndrome is characterized by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene.


name: Cantu Sanchez-Corona Garcia-Cruz syndrome


homocarnosinosis

description: Homocarnosinosis is a metabolic defect characterized by progressive spastic diplegia, intellectual deficit and retinitis pigmentosa. This extremely rare disorder has been reported in only one family, namely a woman and three of her children. The latter showed progressive spastic diplegia, mental retardation and retinitis pigmentosa but their mother was symptom free. It is therefore uncertain whether there is a relationship between the biochemical defect and the clinical symptoms. Inheritance in the reported family seems to be autosomal dominant.


name: facial abnormalities, kyphoscoliosis, and intellectual disability


name: spinal muscular atrophy with respiratory distress type 2

description: Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene.


name: myopathy with hexagonally cross-linked tubular arrays

description: Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without musclar weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus.


name: neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss


phenobarbital embryopathy

description: A teratologic disorder associated with intrauterine exposure of phenorbarbital during the first trimester of pregnancy. Infants are usually asymptomatic but an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism, epicanthus, hypoplasia and low insertion of the nose, low insertion of the ears, prognathism, ﬁnger hypoplasia, brachydactyly and hypospadias have been reported in rare cases.


postaxial acrofacial dysostosis

description: Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis characterized by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia.


name: neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome


name: CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome

description: A rare genetic autoinflammatory syndrome with immune deficiency characterized by a combination of autoinflammation, immunodeficiency, and neutrophil dysfunction, as well as mild bleeding diathesis. Patients present recurrent attacks of abdominal pain, high fever, and systemic inflammation lasting four to five days and occurring every few weeks. Attacks may be accompanied by nailbed, tongue, submandibular, and gluteal abscesses, intra-abdominal granulomas, pyoderma gangrenosum, and buccal ulcerations. Frequent episodes of purulent paronychia, superficial skin and mucosal infections, and purulent upper respiratory tract infections have also been reported.


alpha-mannosidosis, sheep

description: Alpha-mannosidosis that occurs in sheep.


nasal dermoid cyst

description: A dermoid cyst that involves the nose.


urolithiasis, goat

description: Urolithiasis that occurs in goat.


name: combined immunodeficiency due to GINS1 deficiency


spinal cord ischemia

description: Reduced blood flow to the spinal cord which is supplied by the anterior spinal artery and the paired posterior spinal arteries. This condition may be associated with arteriosclerosis, trauma, emboli, diseases of the aorta, and other disorders. Prolonged ischemia may lead to infarction of spinal cord tissue.


hypotrichosis 10

description: A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 7p22.3-p21.3.


name: autosomal dominant epidermolytic ichthyosis

description: An autosomal dominant inherited skin disorder caused by mutations in the KRT1 and KRT10 genes. It is manifested at birth and is characterized by generalized erythema, skin blisters and skin fragility.


scleral disorder

description: A disorder affecting the sclera. Examples include inflammatory processes (e.g., scleritis and episcleritis), and degenerative processes. Primary tumors of the sclera are extremely rare.


Banki syndrome

description: Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965.


polymyositis

description: A rare idiopathic inflammatory myopathy characterized by symmetric proximal muscle weakness and elevated muscle enzymes.


large cell medulloblastoma

description: A medulloblastoma composed of large cells with prominent nucleoli and a larger amount of cytoplasm in contrast with the cells of the classic medulloblastoma.


Warburg micro syndrome 3

description: Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB18 gene.


name: congenital stenosis of cervical medullary canal


exfoliative ichthyosis

description: Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment.


platelet-type bleeding disorder 8

description: P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate.


integrative agnosia

description: Agnosia characterized by the inability to integrate perceptual wholes within knowledge.


name: hemangioma, capillary infantile, susceptibility to

description: An inherited susceptibility or predisposition to developing capillary infantile hemangioma.


name: body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency

description: Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs.


cataract 26 multiple types

description: A cataract that has material basis in variation in the region 9q13-q22.


hyperostosis, pig

description: Hyperostosis that occurs in pig.


name: combined oxidative phosphorylation deficiency 49


name: selective intrauterine growth restriction


non-seminomatous lesion

description: A group of testicular cancers that begin in the germ cells (cells that give rise to sperm). Nonseminomas are identified by the type of cell in which they begin and include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac carcinoma.


chronic salpingitis

description: Chronic inflammation of the fallopian tube. It usually follows an acute inflammatory attack.


patent ductus arteriosus, sheep

description: Patent ductus arteriosus that occurs in sheep.


name: X-linked intellectual disability, Cantagrel type

description: X-linked Mental retardation Cantagrel type is characterized by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.


name: short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia


name: Usmani-Riazuddin syndrome, autosomal recessive


dracunculiasis

description: Dracunculiasis (Guinea worm disease) is a neglected tropical disease (NTD) characterized by a painful burning skin lesion from which the Dracunculus medinensis parasite emerges approximately 1 year after infection resulting from consumption of unsafe drinking water containing parasite-infected copepods (Cyclops spp., microcrustacea also called water fleas).


male infertility due to globozoospermia

description: Male infertility due to globozoospermia is a male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida and thus fertilization failures, even with intracytoplasmic spem injection, are frequent.


alternating hemiplegia of childhood 2

description: Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A3 gene.


name: epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive

description: A basal subtype of epidermolysis bullosa simplex EBS characterized by generalized or, less frequently, localized acral blistering.


endothrix infectious disease

description: A dermatophyte infection of the hair that nvade the hair shaft and internalize into the hair cell.


Olmsted syndrome 1

description: Any Olmsted syndrome in which the cause of the disease is a variation in the TRPV3 gene.


name: epidermolysis bullosa simplex 2E, with migratory circinate erythema

description: A basal subtype of epidermolysis bullosa simplex (EBS) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema.


tibial aplasia-ectrodactyly syndrome

description: Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.


alcohol withdrawal delirium

description: An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include confusion; delusions; vivid hallucinations; tremor; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens. (From Adams et al., Principles of Neurology, 6th ed, p1175)


dental fluorosis

description: A condition that results from excessive fluoride ingestion during tooth development, resulting in tooth discoloration ranging from white streaks to brown stains and cracks or pits in the tooth enamel.


butyrylcholinesterase deficiency

description: Butyrylcholinesterase (BChE) deficiency is a metabolic disorder characterized by prolonged apnoea after the use of certain anesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency.


name: spinocerebellar ataxia, autosomal recessive 25


name: growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SFXN4 gene.


name: autosomal dominant cerebellar ataxia type II

description: An autosomal dominant inherited neurodegenerative disorder caused by mutations in the ATXN7 gene. It is characterized by progressive cerebellar ataxia, including dysarthria and dysphagia, cone-rod and retinal dystrophy, and progressive central visual loss resulting in blindness.


hypotonia-cystinuria syndrome

description: A rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.


myofibrillar myopathy 4

description: Late-onset distal myopathy, Markesbery-Griggs type is a rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases.


acrorenal syndrome, autosomal recessive

description: Autosomal recessive form of acrorenal syndrome.


name: autosomal dominant cerebellar ataxia type III

description: Autosomal dominant cerebellar ataxia (ACDA) type III is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31.


laryngeal leiomyosarcoma

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


human prion disease

description: Prion diseases are a group of rare transmissible disorders characterized by progressive debilitating neurological manifestations due to spongiform changes with an invariably fatal course. The disorders all involve accumulation of an abnormal prion protein in the central nervous system with no specific immunological response. Sporadic Creutzfeldt-Jakob disease (CJD) is the most frequent form accounting for about 85% of prion disease cases. The other forms of prion disease are genetic (5-15%) and include inherited CJD, fatal familial insomnia (FFI), and Familial Alzheimer-like prion disease. Acquired forms (< 5%) include iatrogenic CJD and variant CJD (vCDJ).


Eagle syndrome

description: Eagle syndrome is characterized by recurrent pain in the middle part of the throat (oropharynx) and face. 'Classic Eagle syndrome' is typically seen in patients after throat trauma or tonsillectomy. Symptoms include dull and persistent throat pain that may radiate to the ear and worsen with rotation of the head. Other symptoms may include difficulty swallowing, feeling that there is something stuck in the throat, tinnitus, and neck or facial pain. A second form of Eagle syndrome unrelated to tonsillectomy causes compression of the vessel that carries blood to the brain, neck, and face (carotid artery). This form can cause headache. Eagle syndrome is due to a calcified stylohyoid ligament or an elongated styloid process. The styloid process is a pointed part of the temporal bone that serves as an anchor point for several muscles associated with the tongue and larynx. The mainstay treatment for Eagle syndrome is surgery to shorten the styloid process (styloidectomy). Medical management may include the use of pain and anti-inflammatory medications, antidepressants, and/or steroids. The overall success rate for treatment (medical or surgical) is about 80%.


name: autoinflammation with episodic fever and immune dysregulation


description: An amino acid metabolic disorder that are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has material basis in autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4.


name: autosomal dominant nonsyndromic hearing loss 13

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene.


Pelger-Huet anomaly, rabbit

description: Pelger-Huet anomaly that occurs in rabbit.


name: cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation


name: hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency


retinoschisis, autosomal dominant

description: Autosomal dominant form of retinoschisis.


description: Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine.


name: autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome

description: Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome is a rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions in brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures.


name: amyotrophic lateral sclerosis 26 with or without frontotemporal dementia


name: classic eosinophilic pustular folliculitis


name: circadian rhythm sleep disorder, irregular sleep wake type

description: A circadian sleep disorder characterized by at least three sleep episodes per 24-hour period, irregularly from day to day.


disorder of sphingolipid biosynthesis

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


schizophrenia 10

description: A schizophrenia that has material basis in an autosomal dominant mutation of SCZD10 on chromosome 15q15.


isolated congenital anonychia

description: Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission, suggesting autosomal dominant transmission. Anonychia has been described in approximately less than 20 cases; it is likely to be transmitted as an autosomal recessive trait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern.


hemochromatosis type 2A

description: Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HJV gene.


pleomorphic rhabdomyosarcoma

description: An aggressive malignant mesenchymal neoplasm with skeletal muscle differentiation, occurring in adults and rarely in children. The tumor is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually of the lower extremities.


name: combined oxidative phosphorylation defect type 23

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the GTPBP3 gene.


name: methylmalonic aciduria and/or homocystinuria, cblD type

description: An autosomal recessive inborn disorder of cobalamin metabolism caused by biallelic variants in MMADHC. Depending on the type and location of variants in MMADHC, patients may present with methylmalonic aciduria, homocystinuria, or both. MMADHC has been reported to result in the cblD complementation group of cobalamin disorders.


name: autosomal dominant combined immunodeficiency due to partial IL6ST deficiency


name: pancreatic beta cell agenesis with neonatal diabetes mellitus


diabetes insipidus, domestic cat

description: Diabetes insipidus that occurs in domestic cat.


thyroid dyshormonogenesis 2A

description: Thyroid peroxidase system defect due to presumed mutation(s) in the TPO gene, resulting in decreased activity of thyroid peroxidase.


schizophrenia 1

description: A schizophrenia that has material basis in an autosomal dominant mutation of SCZD1 on chromosome 5q23-q35.


miliaria profunda

description: A miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash.


skull cancer

description: A malignant neoplasm involving the skull.


Leber congenital amaurosis 13

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RDH12 gene.


fructose-1,6-bisphosphatase deficiency

description: Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants.


name: intellectual disability, autosomal recessive 19


hydroa vacciniforme, familial

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


name: spinocerebellar ataxia, autosomal recessive 31


name: short-rib thoracic dysplasia 20 with polydactyly

description: Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {1:Huber and Cormier-Daire, 2012} and {2:Schmidts et al., 2013}).nnThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, OMIM:218330).


name: combined oxidative phosphorylation defect type 4

description: Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy.


essential hypertension, dog

description: Essential hypertension that occurs in dog.


polydactyly of an index finger

description: Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral. There have been no further descriptions in the literature since 1962.


name: autosomal dominant nonsyndromic hearing loss 6

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the WFS1 gene.


name: atypical hemolytic-uremic syndrome with anti-factor H antibodies


acquired mineral metabolism disease

description: An instance of mineral metabolism disease that is acquired during the lifetime of the individual.


name: autosomal dominant Charcot-Marie-Tooth disease type 2W

description: Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the HARS gene.


intellectual disability, X-linked 96

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


name: pulmonary atresia with ventricular septal defect

description: Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot.


neurofibromatosis type 2

description: A tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas.


Cornelia de Lange syndrome 3

description: Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the SMC3 gene.


canine sarcoma

description: A malignant mesenchymal neoplasm that affects dogs. It arises from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels.


phacoanaphylactic uveitis

description: Intraocular inflammation occurring after extracapsular cataract extraction; probably an immune reaction to the patient's liberated lenticular proteins.


diabetes mellitus, domestic guinea pig

description: Diabetes mellitus that occurs in domestic guinea pig.


name: dominant pericentral pigmentary retinopathy

description: A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life.


name: medulloblastoma SHH activated and TP53 mutant

description: A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations.


description: 46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumors are frequently associated.


intraocular retinoblastoma

description: Retinoblastoma restricted to local involvement.


choanal atresia, sheep

description: Choanal atresia that occurs in sheep.


neurocirculatory asthenia

description: A clinical syndrome characterized by palpitation, shortness of breath, labored breathing, subjective complaints of effort and discomfort, all following slight physical exertion. Other symptoms may be dizziness, tremulousness, sweating, and insomnia. Neurocirculatory asthenia is most typically seen as a form of anxiety disorder.


sphenoorbital meningioma

description: A meningioma that affects the sphenoorbital region.


name: HBA1; HBA2-related digenic alpha thalassemia spectrum

description: Mild microcytic anemia caused by variation in two of the four copies of the alpha hemoglobin genes, which can be in cis (e.g., large deletion of HBA1 and HBA2 genes) or in trans (e.g., HBA1 variant on one chromosome and HBA2 variant on the other chromosome).


name: brachydactyly-elbow wrist dysplasia syndrome

description: Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibility to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported.


thyroid hypoplasia

description: Thyroid hypoplasia is a form of thyroid dysgenesis characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.


schwannomatosis, non-human animal

description: Schwannomatosis that occurs in non-human animals.


name: idiopathic hypersomnia without long sleep time

description: Idiopathic hypersomnia without long sleep time is a sleep disorder characterized almost entirely by constant excessive daytime drowsiness lasting more than 3 months, with involuntary more or less restorative daytime naps. Night rest is of normal length or slightly prolonged but is less than 10 hours in duration, with often normal awakening.


torsion dystonia with onset in infancy

description: A dystonia characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy.


hyperkalemic renal tubular acidosis

description: Renal tubular acidosis (RTA) that is caused by a generalized transport abnormality of the distal tubule. The transport of electrolytes such as sodium, chloride, and potassium that normally occurs in the distal tubule is impaired. This form is distinguished from classical distal RTA and proximal RTA because it results in high levels of potassium in the blood instead of low levels.


name: spinal muscular atrophy-progressive myoclonic epilepsy syndrome

description: Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus.


necrotic uveal melanoma

description: A uveal melanoma characterized by the presence of tumor cell necrosis.


clivus chondroid chordoma

description: A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the clivus. It is characterized by a lobulated growth pattern, myxoid stroma formation, the presence of physaliphorous cells and cartilage.


name: idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis


exocrine pancreatic insufficiency, dog

description: Exocrine pancreatic insufficiency that occurs in dog.


fibroepithelial neoplasm

description: A benign, borderline, or malignant neoplasm characterized by the presence of an epithelial and a fibrous component. Representative examples are fibroadenoma and phyllodes tumor.


name: auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome

description: The association of auricular abnormalities and cleft lip with or without cleft palate has been described in two siblings. One sibling had postauricular pits, profound myopia, nystagmus and retinal pigment abnormalities. The second sibling was a fetus (gestational age: 23 weeks) with severe cleft lip, cleft palate and external ear abnormalities.


radiculitis

description: An inflammatory process affecting a nerve root. Patients experience pain radiating along a nerve path because of spinal pressure on the nerve root that connects to the nerve path.


porphyria cutanea tarda, pig

description: Porphyria cutanea tarda that occurs in pig.


psychosocial short stature

description: A growth disorder that is observed between the ages of 2 and 15, caused by extreme emotional deprivation or stress.


Rahman syndrome

description: Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference. The overgrowth is apparent in infancy and may lessen with time or persist. The phenotype is highly variable; some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly. The disorder is thought to result from a defect in epigenetic regulation (summary by {1:Tatton-Brown et al., 2017}).


spastic ataxia 2

description: Autosomal recessive spastic paraplegia type 58 is a rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs.


endocrine exophthalmos

description: Progressive inflammation and damage to tissues around the eyes, especially extraocular muscle, connective, and fatty tissue occurring in patients with hyperthyroidism or a history of hyperthyroidism due to Graves’ disease.


description: A polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.


salmonella infections, animal

description: Infections in animals with bacteria of the genus salmonella.


osteogenesis imperfecta type 9

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


name: acute myeloid leukemia, GATA1 gene mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly GATA1 gene mutation. (A change in the nucleotide sequence of the GATA1 gene.)


paraphilic disorder

description: Disorders that include recurrent, intense sexually arousing fantasies, sexual urges, or behaviors generally involving nonhuman objects, suffering of oneself or partners, or children or other nonconsenting partners. (from DSM-V)


cholesterol embolism

description: Blocking of a blood vessel by cholesterol-rich atheromatous deposits, generally occurring in the flow from a large artery to small arterial branches. It is also called arterial-arterial embolization or atheroembolism which may be spontaneous or iatrogenic. Patients with spontaneous atheroembolism often have painful, cyanotic digits of acute onset.


chicken hepatoma

description: Hepatoma that occurs in a chicken.


polycystic kidney disease, markhor

description: Polycystic kidney disease that occurs in markhor.


short QT syndrome type 3

description: Any short QT syndrome in which the cause of the disease is a mutation in the KCNJ2 gene.


fingerprint body myopathy

description: Fingerprint body myopathy is a congenital benign muscle disorder characterized by congenital hypotonia and weakness and by the presence of numerous fingerprint bodies located at the periphery of the muscle fibers. Prevalence is unknown. Less than 20 patients have been described. Few sporadic cases have been observed, as well as cases of recessive transmission.


Wilson disease, domestic cat

description: Wilson disease that occurs in domestic cat.


Quinquaud's folliculitis decalvans

description: Folliculitis decalvans is a rare chronic inflammatory cicatricial alopecia of the scalp occurring in middle-aged adults and characterized by the development of alopecic patches with slowly centrifugal spread predominantly in the vertex and occipital area of the scalp, associated with perifollicular erythema, follicular pustules and hemorrhagic crusts.


name: internal pathological resorption of tooth


Simpson-Golabi-Behmel syndrome type 2

description: Simpson-Golabi-Behmel syndrome (SGBS) type 2 is an extremely rare and severe, early-lethal form of SGBS, an overgrowth-multiple anomalies syndrome, characterized by hydrops fetalis, macrocephaly, facial dysmorphism (hypertelorism, low-set, posteriorly angulated ears, short and broad nose with anteverted nares, prominent philtrum, large mouth with thin upper vermilion border, high-arched and cleft palate), short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported.


congenital smooth muscle hamartoma

description: Congenital smooth muscle hamartoma (CSMH) is a rare cutaneous hamartomatous lesion most often located on the lumbosacral area or proximal limbs (but rarely on atypical areas such as scalp, eyelid or foot) and characterized by a disorganized proliferation of smooth muscle fibers of arrector pili presenting usually as a localized skin-colored or hyperpigmented plaque (up to 10 cm in diameter) with prominent vellus hairs (most common classic form) or less commonly by multiple skin-colored papules that can coalesce to form irregularly shaped plaques. With time, hyperpigmentation and vellus hairs usually diminish and neither malignant transformation nor associated systemic involvement has been reported.


name: hereditary persistence of fetal hemoglobin-intellectual disability syndrome


name: autosomal dominant nonsyndromic hearing loss 70

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MCM2 gene.


tinea nigra

description: A superficial mycosis that is a superficial fungal infection of the skin characterized by brown to black macules which usually occur on the palmar aspects of hands and occasionally the plantar and other surfaces of the skin, caused by Hortaea werneckii, which is a common saprophytic fungus believed to occur in soil, compost, humus and on wood in humid tropical and sub-tropical regions.


name: myopathy, myosin storage, autosomal recessive