name: Pelizaeus-Merzbacher disease, connatal form

description: The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD.


osteochondrosis, cattle

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

description: Osteochondrosis that occurs in cattle.


congenital nystagmus, dog

description: Congenital nystagmus that occurs in dog.


visceral botryomycosis

description: A botryomycosis that involves internal organs such as lungs, liver, or brain. It is a rare disease and has been described mainly in patients with underlying diseases such as diabetes mellitus, cystic fibrosis, or HIV infection. It is most commonly affecting the lungs, although involvement of other organs including liver, spleen, kidney, and brain has also been described.


small cell sarcoma

description: A sarcoma characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm.


name: alopecia-intellectual disability syndrome 2


vulva cancer

description: A primary or metastatic malignant neoplasm involving the vulva.


pediatric myxoid chondrosarcoma

description: A myxoid chondrosarcoma occurring in children.


urachal diverticulum

description: Urachal diverticulum is the rarest type of congenital urachal anomaly resulting from the failure of the distal urachus to close at its point of connectivity to the bladder that is usually asymptomatic but can be associated with recurrent urinary tract infections and other complications.


Pallister-W syndrome

description: A syndrome characterized by intellectual deficit, epileptic seizures and facial dysmorphism. Skeletal anomalies are also often present. To date, it has been described in six male patients. The mode of transmission appears to be X-linked dominant.


dermatitis herpetiformis

description: Dermatitis herpetiformis (DH) is a chronic autoimmune subepidermal bullous disease characterized by grouped pruritic lesions such as papules, urticarial plaques, erythema, and herpetiform vesiculae, with a predominantly symmetrical distribution on extensor surfaces of the elbows (90%), knees (30%), shoulders, buttocks, sacral region, and face of children and adults. Erosions, excoriations and hyperpigmentation usually follow. DH may also appear as a consequence of gluten intolerance.


name: familial atypical multiple mole melanoma syndrome


name: mitochondrial DNA depletion syndrome 7 (hepatocerebral type)

description: Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families.


osteoarthritis, cattle

description: Osteoarthritis that occurs in cattle.


name: hereditary sensorimotor neuropathy with hyperelastic skin


name: Leber-like hereditary optic neuropathy, autosomal recessive 1


food dermatitis

description: Dermatitis caused by an allergic reaction to ingested food.


name: craniofacial dysostosis arthrogryposis progeroid appearance


oculomaxillofacial dysostosis

description: Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported.


name: hypogonadotropic hypogonadism 10 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TAC3 gene.


ventricular septal defect, cattle

description: Ventricular septal defect that occurs in cattle.


name: qualitative or quantitative defects of delta-sarcoglycan


name: autosomal dominant nonsyndromic hearing loss 54

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31.


ectasia of the right atrial appendage

description: Ectasia of the right atrial appendage is a rare cardiac malformation characterized by the enlargement of the right auricle without any other associated cardiac lesions. It can be asymptomatic and diagnosed fortuitously, prenatally or during routine clinical examinations or it can present with heart murmur, palpitation, atrial arrhythmia, fatigue, dyspnea or respiratory distress.


name: isolated asymptomatic elevation of creatine phosphokinase

description: Isolated hyperCKemia is a condition characterized by elevated levels of an enzyme called creatine kinase in the blood. In affected individuals, levels of this enzyme are typically 3 to 10 times higher than normal. While elevated creatine kinase often accompanies various muscle diseases, individuals with isolated hyperCKemia have no muscle weakness or other symptoms. Some people with this condition have abnormalities of muscle cells that can be seen with a microscope, such as unusual variability in the size of muscle fibers, but these changes do not affect the function of the muscle.


name: thrombocytopenia with elevated serum IgA and renal disease


paramyotonia congenita of Von Eulenburg

description: Paramyotonia congenita of Von Eulenburg is characterized by exercise- or cold-induced myotonia and muscle weakness. Prevalence is unknown. The syndrome is nonprogressive and is transmitted as an autosomal dominant trait. It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3).


name: acute myeloid leukemia, loss of chromosome 17p

description: Any acute myeloid leukemia that has the chromosomal anomaly loss of chromosome 17p. (A cytogenetic abnormality that refers to the loss of all or part of the short arm of chromosome 17 (17p).)


name: thickened earlobes with conductive deafness from incus-stapes abnormalities


feline lymphoma

description: A lymphoma that occurs in cats. It is associated with exposure to feline leukemia virus and feline immunodeficiency virus.


autosomal recessive bestrophinopathy

description: Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG).


Aase-Smith syndrome

description: Aase-Smith syndrome type I is a very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.


adult dermatomyositis

description: Dermatomyositis in an adult.


CERKL-related retinopathy

description: An inherited retinopathy caused by bi-allelic variants in the CERKL gene.


adult Krabbe disease

description: A Krabbe disease that occurs in an adult.


name: infection due to clostridium perfringens


epilepsy, progressive myoclonic, 1B

description: Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the PRICKLE1 gene.


name: lissencephaly with cerebellar hypoplasia type D

description: Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (at least B1 3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres.


chromosome 15q24 deletion syndrome

description: 15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.


mitochondrial encephalomyopathy

description: A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5)


name: pauci-immune glomerulonephritis with ANCA

description: Pauci-immune glomerulonephritis (GN) with antineutrophil cytoplasmic antibodies (ANCA) is a form of rapidly progressive GN comprising about 90% of pauci-immune glomerulonephritis, and associated with the presence of circulating ANCA (mostly directed against proteinase-3 (PR3) and myeloperoxidase (MPO)). Patients usually present with hematuria and rapidly declining renal function, often leading to dialysis within weeks without treatment. Cutaneous, pulmonary, musculoskeletal and nervous involvement may be observed in case of systemic disease, and the correlation between ANCA titer and disease activity has been demonstrated.


ulnar hypoplasia-split foot syndrome

description: Ulnar hypoplasia-split foot syndrome is characterized by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded.


name: neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia


name: radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome

description: Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterized by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15).


Indian tick typhus

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


name: intellectual disability, autosomal recessive 24


name: Prader-Willi syndrome due to translocation


non-secreting paraganglioma

description: Non-functioning paraganglioma is a rare neuroendocrine tumor arising from neural crest-derived paraganglion cells (most often in the para-aortic region at the level of renal hilia, organ of Zuckerkandl, thoracic paraspinal region, bladder, and carotid body) not associated with catecholamine secretion. These tumors are usually clinically silent and symptoms, if present, are nonspecific and depend on the location of the tumor. Association with certain hereditary cancer-predisposing syndromes, such as multiple endocrine neoplasia, neurofibromatosis type 1 or von Hippel Lindau syndrome, may be observed.


polycystic kidney disease 4

description: A autosomal dominant polycystic kidney disease that has material basis in mutation in the PKD4 gene.


extraocular retinoblastoma

description: Retinoblastoma that has spread beyond the eye e.g. to brain, soft tissue/bone, bone marrow.


name: hypogonadotropic hypogonadism 3 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROKR2 gene.


hypothalamic dysfunction

description: Hypothalamic dysfunction refers to a condition in which the hypothalamus is not working properly. The hypothalamus produces hormones that control body temperature, hunger, moods, release of hormones from many glands such as the pituitary gland, sex drive, sleep, and thirst. The signs and symptoms patients have vary depending on the hormones missing. A number of different causes including anorexia, bleeding, genetic disorder, tumors, and more have been linked to hypothalamic dysfunction. Treatment depends on the cause of the hypothalamic dysfunction.


platelet storage pool deficiency

description: Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their contents into the bloodstream. The signs and symptoms include frequent nosebleeds; abnormally heavy or prolonged menstruation ; easy bruising; recurrent anemia ; and abnormal bleeding after surgery, dental work or childbirth. Platelet storage pool deficiencies may be genetic or acquired (non-genetic). They can also be part of an inherited genetic syndrome such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich syndrome. Treatment is symptomatic.


musculoskeletal system disorder

description: A disease involving the musculoskeletal system.


leiomyomatosis

description: A condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body.


autoinflammatory disease, X-linked

description: An autoinflammatory syndrome characterized by the onset of systemic autoinflammation in the first months of life. Features include lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional manifestations may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy.


perceptual disorders, non-human animal

description: Perceptual disorders that occurs in non-human animals.


hydatidiform mole, recurrent, 1

description: Any complete hydatidiform mole in which the cause of the disease is a mutation in the NLRP7 gene.


tuberculous empyema

description: An empyema resulting from infection by Mycobacterium tuberculosis.


name: congenital absence of thigh and lower leg with foot present, unilateral


name: arthrogryposis-like hand anomaly-sensorineural deafness syndrome

description: Arthrogryposis-like hand anomaly-sensorineural deafness syndrome is characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed.


name: congenital amegakaryocytic thrombocytopenia 1

description: A rare inherited bone marrow failure syndrome, in which the cause of the disease is a variation in the MPL gene. It is characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.


name: severe neurodegenerative syndrome with lipodystrophy


name: shoulder and thorax deformity-congenital heart disease syndrome


name: Kniest-like dysplasia with pursed lips and ectopia lentis


feline fibrosarcoma

description: Fibrosarcoma that occurs in a cat.


secondary polycythemia

description: Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia).


vaginal disorder

description: A non-neoplastic or neoplastic disorder that affects the vagina. Representative examples include vaginal infection, vaginal polyp, and vaginal squamous cell carcinoma.


sex cord-stromal tumor

description: A neoplasm involving a sex cord.


name: autosomal recessive nonsyndromic hearing loss 44

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ADCY1 gene.


microphthalmia, chicken

description: Microphthalmia that occurs in chicken.


vaginal germ cell malignant tumor

description: A malignant germ cell tumor that involves the vagina.


pinta disease

description: An endemic bacterial infection caused by Treponema carateum. It is manifested with chronic cutaneous lesions. The early lesions consist of papules and erythematous plaques. The late lesions consist of hypochromic, achromic, hyperpigmented and atrophic lesions. The late skin lesions may cause destruction of bones and cartilage and produce disfiguring changes.


name: intellectual disability-early-onset cataract-microcephaly syndrome


benign neoplasm of buccal mucosa

description: A benign neoplasm that involves the buccal mucosa.


scrotum melanoma

description: A melanoma (disease) that involves the scrotum.


laryngeal tuberculosis

description: Extrapulmonary tuberculosis involving the larynx. Signs and symptoms include hoarseness, cough, and odynophagia. The condition is rare.


harlequin syndrome

description: Harlequin syndrome (HSD) is an autonomic disorder occurring at any age and characterized by unilateral flushing and sweating, involving the face and sometimes arm and chest, in condition of thermal, exercise or emotional stress without sympathetic ocular manifestations. However, tonic pupils, parasympathetic oculomotor lesion and pre- or postganglionic sudomotor sympathetic deficit can rarely occur.


name: subaortic stenosis-short stature syndrome


heel spur

description: A bony outgrowth on the lower surface of the calcaneus. Though often presenting along with plantar fasciitis (fasciitis, plantar), they are not considered causally related.


neurosarcoidosis

description: A sarcoidosis that involves the nervous system.


X-linked Opitz G/BBB syndrome

description: X-linked form of Opitz G/BBB syndrome.


LTBP2-related ocular dysgenesis

description: Any ocular dysgenesis disorder in which the cause of the disease is a mutation in the LTBP2 gene.


caudal appendage-deafness syndrome

description: Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys.


name: spastic paraplegia 89, autosomal recessive


name: myopathy due to myoadenylate deaminase deficiency

description: An autosomal recessive condition caused by mutation(s) in the AMPD1 gene, encoding AMP deaminase 1. The condition is characterized by exercise-induced muscle pain and/or fatigue, which may be associated with rhabdomyolysis and/or increased concentrations of creatinine kinase.


spina bifida, dog

description: Spina bifida that occurs in dog.


ADAM9-related retinopathy

description: An inherited retinopathy caused by bi-allelic variants in the ADAM9 gene.


name: MELAS syndrome caused by mutation in MTTH

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


name: polyarticular juvenile rheumatoid arthritis


chicken bursal lymphoma

description: A malignant lymphoma that arises in the bursa of Fabricius in a chicken.


patent urachus, dog

description: Patent urachus that occurs in dog.


chronic mountain sickness

description: A pathological condition resulting from chronic exposure to hypoxia at high altitude. The syndrome is characterized by an excessive number of red blood cells associated with a high blood hemoglobin concentration ([Hb]), hypoxemia, and, in some cases, pulmonary hypertension. Clinical signs include headache, fatigue, sleep disturbances, dyspnea, digestive complaints, and high risk of thrombotic events.


name: intellectual disability-hyperkinetic movement-truncal ataxia syndrome


spinocerebellar ataxia type 32

description: Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, cognitive impairment and azoospermia in males.


Charcot-Marie-Tooth disease type 4H

description: Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy


name: epilepsy, familial focal, with variable foci 1

description: Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the DEPDC5 gene.


atrophic rhinitis, cattle

description: Atrophic rhinitis that occurs in cattle.


name: autosomal dominant nonsyndromic hearing loss 31

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p21.3.


name: microcephaly-polymicrogyria-corpus callosum agenesis syndrome

description: Microcephaly-polymicrogyria-corpus callosum agenesis syndrome is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality.


name: autosomal recessive nonsyndromic hearing loss 79

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


name: familial recurrent peripheral facial palsy


autoimmune uveitis

description: An autoimmune form of uveitis (disease).


intermediate malignant teratoma

description: An immature teratoma characterized by the presence of an intermediate amount of undifferentiated tissues.


cardiomyopathy, cattle

description: Cardiomyopathy that occurs in cattle.


name: chondrodysplasia situs inversus imperforate anus polydactyly


polymicrogyria, non-human animal

description: Polymicrogyria that occurs in non-human animals.


facial dermatosis

description: Facial Dermatosis, also known as facial dermatoses, is related tolipogranulomatosis. An important gene associated with Facial Dermatosis isCCNE1(cyclin E1). The drugsbetamethasoneandbetamethasone acetatehave been mentioned in the context of this disorder.


myopathy

description: A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness.


retinoschisis, non-human animal

description: Retinoschisis that occurs in non-human animals.


name: paternal uniparental disomy of chromosome 6

description: Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.


name: encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy


tibialis tendinitis

description: A tendinitis that involves the tibialis.


name: hypophosphatemic rickets, X-linked recessive

description: Any X-linked hypophosphatemic rickets in which the cause of the disease is a mutation in the CLCN5 gene.


name: endocardial fibroelastosis and coarctation of abdominal aorta


neoplasm of aortic body

description: A benign or malignant extra-adrenal parasympathetic paraganglioma that arises from paraganglia adjacent to the base of the heart and great vessels.


chromosome 11 disorder

description: Chromosomal disorder in which chromosome 11 is affected.


congenital myopathy, goat

description: Congenital myopathy that occurs in goat.


syndromic microphthalmia type 5

description: Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.


echinostomiasis

description: Infection by flukes of the genus Echinostoma.


name: congenital bilateral absence of vas deferens

description: Congenital bilateral absence of the vas deferens (CBAVD) is a condition leading to male infertility.


name: congenital disorder of glycosylation with defective fucosylation 1


osteoglophonic dwarfism

description: Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.


name: autosomal recessive spastic paraplegia type 71


name: retinal telangiectasia and hypogammaglobulinemia


commensal bacterial infectious disease

description: A bacterial infectious disease that results in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder.


GABA aminotransaminase deficiency

description: Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration.


Sneddon syndrome

description: Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa.


diabetes insipidus, non-human animal

description: Diabetes insipidus that occurs in non-human animals.


name: hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome


name: multiple epiphyseal dysplasia, Lowry type

description: Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus.


name: chromosome 19q13.11 deletion syndrome, proximal

description: Chromosome 19q13.11 deletion syndrome in which the proximal region was deleted.


polydactyly, springbok

description: Polydactyly that occurs in springbok.


Q fever

description: A bacterial infection caused by Coxiella burnetii. It is transmitted to humans by the inhalation of infected air particles or contact with fluids and feces of infected animals. Signs and symptoms include the abrupt onset of fever, headache, myalgias, and weakness.


congenital fibrosarcoma

description: A fibrosarcoma that occurs in infants. It shares identical morphologic features with adult fibrosarcoma but carries the t(12;15)(p13;q25) translocation that results in ETV6-NTRK3 gene fusion. It usually affects the superficial and deep soft tissues of the extremities. The prognosis is generally much more favorable than for adult fibrosarcoma, and it rarely metastasizes.


name: catecholaminergic polymorphic ventricular tachycardia 2

description: Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CASQ2 gene.


name: Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone

description: A spectrum of malignant tumors arising from the bone and characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms.


name: microcephaly with simplified gyral pattern


cerebellar ataxia-hypogonadism syndrome

description: Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome.


name: acute myeloid leukemia, t(7;12)(q36;p13)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(7;12)(q36;p13). (A chromosomal translocation involving the ETV6 gene on chromosome 12p13 and HLXB9 gene on chromosome 7q36.)


carcinoid heart disease

description: Cardiac manifestation of gastrointestinal CARCINOID TUMOR that metastasizes to the liver. Substances secreted by the tumor cells, including SEROTONIN, promote fibrous plaque formation in ENDOCARDIUM and its underlying layers. These deposits cause distortion of the TRICUSPID VALVE and the PULMONARY VALVE eventually leading to STENOSIS and valve regurgitation.


description: Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjogren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987.


name: neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects


name: immunodeficiency due to a classical component pathway complement deficiency


urolithiasis, Silvery lutung

description: Urolithiasis that occurs in Silvery lutung.


paratenonitis

description: Inflammation of the outer layer of the tendon (paratenon) alone, whether or not the paratenon is lined by synovium.


chromosome 14 disorder

description: Chromosomal disorder in which chromosome 14 is affected.


ablepharon macrostomia syndrome

description: Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome.


name: acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)

description: Acute myeloid leukemia with inv(3)(q21;q26.2) or t(3;3)(q21;q26.2) is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dyslplasia. Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported.


peroxisomal acyl-CoA oxidase deficiency

description: Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.


HHV-6 encephalitis

description: HHV-6 encephalitis refers to inflammation of the brain due to an infection with human herpesvirus 6. People who have undergone allogeneic hematopoietic cell transplantation are at an increased risk for developing HHV-6 encephalitis, particularly when umbilical cord blood stem cells are used. People with immune system disorders may also be at an increased risk for developing this infection. Signs and symptoms vary, but often include confusion, anterograde amnesia (difficulty learning new information following the onset of amnesia), short-term memory loss, and seizures.Diagnosis often involves lumbar puncture, virus testing, and MRI. EEG 's may also be recommendedwhen seizures are suspected. HHV-6 encephalitis is treated with an antiviral agent with activity against HHV-6. Long term outlook (chance of full recovery) can vary considerably depending individual patient factors.


ascaridiasis

description: Infection with nematodes of the genus ascaridia. This condition usually occurs in fowl, often manifesting diarrhea.


dentin caries

description: A dental caries that involves the dentine.


polycystic kidney disease, rabbit

description: Polycystic kidney disease that occurs in rabbit.


skeletal dysplasia

description: Any Mendelian diseases that affects growth and development of the skeleton.


acute panmyelosis with myelofibrosis

description: An acute myeloid leukemia characterized by bone marrow fibrosis without preexisting primary myelofibrosis.


name: microcephaly 2, primary, autosomal recessive, with or without cortical malformations


name: systemic lupus erythematosus, domestic cat

description: Systemic lupus erythematosus that occurs in domestic cat.


chondroid lipoma

description: A rare benign adipose tissue neoplasm characterized by nests and cord of abundant univacuolated and multivacuolated lipoblasts and mature adipocytes in a prominent myxoid to hyalinized chondroid matrix admix. It predominantly affects females.


oculomotor nerve cancer

description: A cancer involving a oculomotor nerve.


muscular dystrophy, American mink

description: Muscular dystrophy that occurs in American mink.


hyperphosphatemia, cattle

description: Hyperphosphatemia that occurs in cattle.


bilateral frontal polymicrogyria

description: Bilateral frontal polymicrogyria is one of the rarest subtypes of polymicrogyria. It is a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Some researchers classify the condition into two different forms: bilateral frontal polymicrogyriaand the bilateral frontoparietal. Signs and symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability. Seizures mayalsobe present. The frontoparietal form is caused by changes (mutations) in the GPR56 gene but the cause for the frontal form of polymicrogyira is still not known. Treatment is based on the signs and symptoms present in each person.


name: COQ7-related distal hereditary motor neuropathy


giant cell tumor

description: A benign, intermediate, or malignant tumor that arises from the bone or soft tissue. It is characterized by the presence of multinucleated osteoclast-like giant cells.


polydactyly, alpaca

description: Polydactyly that occurs in alpaca.


erythropoietin polycythemia

description: Polycythemia that is caused by excess erythropoietin.


name: congenital adrenal hyperplasia due to 11-beta hydroxylase deficiency, non-human animal

description: Congenital adrenal hyperplasia due to 11-beta hydroxylase deficiency that occurs in non-human animals.


name: ataxia, intention tremor, and hypotonia syndrome, childhood-onset


name: symphalangism with multiple anomalies of hands and feet

description: Symphalangism with multiple anomalies of hands and feet is an exceedingly rare syndrome described in one family and characterized by proximal symphalangism and multiple hand and feet disorders (syndactyly, clinodactyly, hypoplasia of the thenar and hypothenar eminences, and a distinctive dermatoglyphic pattern). There have been no further descriptions in the literature since 1981.


fundus pulverulentus

description: Fundus pulverulentus is a rare form of patterned dystrophy of the retinal pigment epithelium characterized by a granular appearance in the macula, with coarse and punctiform mottling of the retinal pigment epithelium within the macular region. Association with choroidal neovascularization has been reported.


kidney cortex disease

description: A kidney disease that is located in the kidney cortex.


name: torsade-de-pointes syndrome with short coupling interval

description: Torsade-de-pointes (TdP) syndrome with short coupling interval is a very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death.


name: autosomal dominant optic atrophy, classic form

description: One of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss during the first decade of life, associated with optic disk pallor, visual field and color vision defects.


infratentorial neoplasm

description: A benign or malignant neoplasm that occurs in brain parenchymal tissue below the tentorium cerebelli.


distal trisomy 7p

description: Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (incl. dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported.


description: Brachydactyly-nystagmus-cerebellar ataxia syndrome is characterized by brachydactyly, nystagmus and cerebellar ataxia. Intellectual deficit and strabismus are also reported in some patients.


canine transmissible venereal tumor

description: A sexually transmitted tumor arising from histiocytes and occurring in dogs.


typhoid fever

description: A bacterial infectious disorder contracted by consumption of food or drink contaminated with Salmonella typhi. This disorder is common in developing countries and can be treated with antibiotics.


name: immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes


subacute lymphocytic thyroiditis

description: Thyroiditis associated with painless enlargement of the thyroid gland. It occurs more frequently in females and is characterized by alterations between hyperthyroidism and hypothyroidism and the eventual return to normal thyroid gland function.


hereditary methemoglobinemia

description: Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence of abnormal hemoglobin M. It presents with cyanosis early in life. There is no evidence of cardiopulmonary disease present.


retinitis pigmentosa 1

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP1 gene.


isolated cerebellar vermis hypoplasia

description: Isolated cerebellar vermis hypoplasia is a rare, non-syndromic cerebellar malformation characterized by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay, variable degrees of cognitive impairment, hypotonia, equilibrium disturbances, static/dynamic ataxia, oculomotor abnormalities, epilepsy and/or clumsiness. Behavioral disorders such as attention deficit hyperactivity disorder and generalized anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms.


name: lower motor neuron syndrome with late-adult onset


bone inflammation disease

description: Inflammation of the bone.


nephrotic syndrome, domestic cat

description: Nephrotic syndrome that occurs in domestic cat.


cranial nerve neuropathy

description: A neoplastic or non-neoplastic disorder that affects one of the cranial nerves.


pyosalpinx

description: The presence of pus in the fallopian tube. It is usually caused by acute salpingitis. The fallopian tube is distended and filled with pus. Histologic examination reveals edema and acute and chronic inflammation. Symptoms include fever, vaginal discharge, and pelvic pain.


lethal congenital contracture syndrome

description: A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.


congenital nystagmus, non-human animal

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


name: familial omphalocele syndrome with facial dysmorphism

description: Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands.


polydactyly, sheep

description: Polydactyly that occurs in sheep.


name: Shiga toxin-associated hemolytic uremic syndrome

description: A rare thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction that is usually associated with prodromal enteritis caused by Shigella dysentriae type 1 or E. Coli.


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

description: A Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25.


name: chromosome 17q21.31 duplication syndrome

description: The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent.


dysostosis

description: A group of disorders in which the skeletal involvement is predominantly manifested as abnormalities of individual bones or in a group of bones.


name: myopathy, congenital, with structured cores and z-line abnormalities


mosaic trisomy 21

description: Trisomy 21 characterized by the presence of an extra chromosome 21 in some of the cells of the organism.


name: ehlers-danlos syndrome, arthrochalasia type, 2


pediatric angiosarcoma

description: An angiosarcoma occurring in childhood.


name: hemoglobin--variants for which the chain carrying the mutation 1S unknown or uncertain


name: familial clubfoot due to 5q31 microdeletion


name: seizures, early-onset, with neurodegeneration and brain calcifications


cartilage cancer

description: A cancer involving a cartilage tissue.


lichen sclerosus et atrophicus

description: A chronic inflammatory process affecting the skin. It is characterized by the presence of white, indurated plaques, epidermal atrophy, and fibrosis of the upper dermis. It usually appears in the vulva and penis.


liposarcoma of bone

description: A very rare malignant adipose tissue neoplasm that arises from the bone.


name: lethal hemolytic anemia-genital anomalies syndrome

description: Waters-West syndrome is characterized by the association of lethal non-spherocytic, non-immune hemolytic anemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions (at 6 and 12 weeks gestation) but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance. Although the parents were not known to be consanguineous, they shared a French-Canadian and American Indian ethnic origin.


name: neurodevelopmental disorder with microcephaly and dysmorphic facies


acute disease

description: Disease having a short and relatively severe course.


cervical lymphadenitis

description: Inflammation of the cervical lymph nodes.


name: Rhabdoviridae infectious disease, non-human animal

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


name: deafness peripheral neuropathy arterial disease


disappearing bone disease

description: Syndromes of bone destruction where the cause is not obvious such as neoplasia, infection, or trauma. The destruction follows various patterns: massive (Gorham disease), multicentric (hajdu-cheney syndrome), or carpal/tarsal.


familial thyroid dyshormonogenesis

description: A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis.


mild hypophosphatasia

description: Mild hypophosphatasia is the most common form of hypophosphatasia characterized by low alkaline phosphatase, unspecific clinical signs, and typically presents in individuals in adulthood.


name: macular corneal dystrophy, non-human animal

description: Macular corneal dystrophy that occurs in non-human animals.


PEHO-like syndrome

description: PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.


name: heterotopia, periventricular, X-linked dominant


Wiedemann-Rautenstrauch syndrome

description: Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism.


benign neoplasm of hard palate

description: A benign neoplasm that involves the hard palate.


pain agnosia

description: Loss of the ability to perceive and process pain.


name: corneal degeneration, band-shaped spheroid


name: cervical hypertrichosis-peripheral neuropathy syndrome

description: Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993.


calcaneonavicular coalition

description: A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet.


name: qualitative or quantitative defects of alphaB-cristallin


name: severe combined immunodeficiency due to CTPS1 deficiency

description: Severe combined immunodeficiency (SCID) due to CTPS1 deficiency is a rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV), (including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens.


name: peste des petits ruminants infectious disease

description: A highly fatal contagious disease of goats and sheep caused by peste-des-petits-ruminants virus. The disease may be acute or subacute and is characterized by stomatitis, conjunctivitis, diarrhea, and pneumonia.


spina bifida occulta, dog

description: Spina bifida occulta that occurs in dog.


lethal Kniest-like dysplasia

description: Lethal Kniest-like dysplasia is a severe lethal skeletal dysplasia. It has been described in two sibs (one male and one female) born to nonconsanguineous parents. It is characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities.


corticobasal syndrome

description: Corticobasal syndrome (CBS) is a rare neurodegenerative disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction.


tetraploidy syndrome

description: The presence of four sets of chromosomes. It is associated with abnormalities, multiple; and miscarrages.


name: juvenile-onset Steinert myotonic dystrophy


name: retinitis pigmentosa 87 with choroidal involvement


name: class V glucose-6-phosphate dehydrogenase deficiency


DNA repair disease

description: A disease that has its basis in the disruption of DNA repair.


pontocerebellar hypoplasia type 9

description: Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the AMPD2 gene.


name: hypoxanthine guanine phosphoribosyltransferase partial deficiency

description: Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout.


name: NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability

description: A neurodevelopmental disorder caused by heterozygous variants in NACC1 and characterized by developmental delay, intellectual disability, epilepsy, cataracts, feeding difficulties, and recurring episodes of extreme irritability. Other phenotypes include hypotonia, delayed myelination, microcephaly, stereotypic hand movements, gastrointestinal tract issues, and sleeping problems.


isolated cryptophthalmia

description: Isolated cryptophtalmia is a congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral crytophthalmia have been described. Transmission is autosomal dominant.


name: symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch


name: acrodermatitis enteropathica, non-human animal

description: Acrodermatitis enteropathica that occurs in non-human animals.


name: developmental and epileptic encephalopathy, 15


Schimke immuno-osseous dysplasia

description: A multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.


refractory plasma cell neoplasm

description: A plasma cell neoplasm that is resistant to treatment.


exercise-induced anaphylaxis

description: A rare disorder in which anaphylaxis occurs in association with physical activity.


CTSC-related disorder

description: Any ectodermal dysplasia syndrome in which the cause of the disease is a variation in the CTSC gene. Variations in the CTSC gene can result in (1) Papillon-Lefevre syndrome (PLS) characterized by palmoplantar keratoderma, severe periodontitis affecting deciduous and permanent dentitions, and premature loss of dentition, (2) Haim-Munk syndrome (HMS) with additional features of arachnodactly, acroosteolysis, pesplanus, and onychogryphosis, (3) aggressive periodontitis 1 (AP1) characterized by severe and protracted gingival infections, leading to tooth loss. All three phenotypes are associated with autosomal recessive inheritance.


granulomatous dermatitis

description: An inflammatory reaction of the skin to various organic and inorganic antigens. It is characterized by tumor-like masses or nodules of granulomatous tissue comprised of activated histiocytes, epitheliod cells, and multinucleated giant cells.


name: osteoporosis, childhood- or juvenile-onset, with developmental delay


name: behavioral variant of frontotemporal dementia

description: Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy.


Lowe-Kohn-Cohen syndrome

description: Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983.


Gaucher disease type II

description: Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.


inherited blood coagulation disorder

description: Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation.


phocomelia, Schinzel type

description: Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder.


name: fibrosis, neurodegeneration, and cerebral angiomatosis


name: autosomal dominant nonsyndromic hearing loss 10

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the EYA4 gene.


infantile systemic hyalinosis

description: Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.


name: intellectual disability, X-linked, syndromic, 35


name: microcephaly 6 with or without short stature

description: Disorder of fetal brain growth; individuals have small brains and almost always have mental retardation, although rare individuals with mild microcephaly (-3 SD) and normal intelligence have been reported. Clinical features include the features of ‘microcephaly 6, primary, autosomal recessive’ and 'Seckel syndrome', and may include short stature or mild seizures.


substernal goiter

description: An enlarged thyroid gland with at least 50% of the gland situated behind the sternum. It is an unusual presentation of an intrathoracic goiter. Substernal goiters frequently cause compression on the trachea leading to deviation, narrowing, and respiratory symptoms.


aortic aneurysm, familial thoracic 4

description: Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MYH11 gene.


dedifferentiated liposarcoma

description: A high-grade subtype of liposarcoma (LS) that progresses from well-differentiated liposarcoma (WDLS), and most often occurs in the retroperitoneum. It is defined as a region of nonlipogenic sarcoma associated with WDLS.


description: X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consistent pattern has been noted.


Cantu Sanchez-Corona Hernandez syndrome

description: Mild mental deficiency, short stature, macrocranium, cardiac anomalies, cutis laxa, peculiar facies, wrinkled palms and soles, small vertebral bodies


primary ciliary dyskinesia 22

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ZMYND10 gene.


non-syndromic brachydactyly of toes

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


retinitis pigmentosa 55

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL6 gene.


Dahlberg-Borer-Newcomer syndrome

description: Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities.


name: mitochondrial complex 3 deficiency, nuclear type 10


description: Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity).


short QT syndrome type 2

description: Any short QT syndrome in which the cause of the disease is a mutation in the KCNQ1 gene.


cone dystrophy 4

description: Any cone dystrophy in which the cause of the disease is a mutation in the PDE6C gene.


name: familial hemophagocytic lymphohistiocytosis 4

description: Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STX11 gene.


name: microcephaly, developmental delay, and brittle hair syndrome


fibrochondrogenesis

description: Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported.


urinary bladder posterior wall cancer

description: Evidence of a malignant neoplasm of the posterior wall of bladder.


neurocutaneous melanocytosis

description: Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death.


name: corneal dystrophy ichthyosis microcephaly intellectual disability


entropion, cattle

description: Entropion that occurs in cattle.


chromosome 16 disorder

description: Chromosomal disorder in which chromosome 16 is affected.


name: qualitative or quantitative defects of perlecan


primary laryngeal lymphangioma

description: Primary laryngeal lymphangioma is a rare, benign, congenital malformation of the lymphatic system characterized by a polypoidal, variable-sized, soft tissue mass located in the larynx. Most lesions manifest by the 2nd year of life and, depending on the size, patients may present with changes in voice, dysphagia, stridor, airway obstruction and/or respiratory distress. Cystic hygroma of the neck is frequently associated.


fibrogenesis imperfecta ossium

description: A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures.


intellectual disability, X-linked 103

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KLHL15 gene.


torsion dystonia 4

description: DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).


name: homocystinuria due to methylene tetrahydrofolate reductase deficiency

description: Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterized by neurological manifestations.


polydactyly, pig

description: Polydactyly that occurs in pig.


lipoma of face

description: A lipoma that involves the face.


name: granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2

description: Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF2 gene.


name: brain malformations with or without urinary tract defects

description: A brain disorder caused by pathogenic variants in NFIA that is characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.


hereditary Wilms tumor

description: Familial embryonal neoplasm derived from nephrogenic blastemal cells. Several lines of differentiation, including blastemal, stromal and epithelial, are usually expressed. Comprises approximately 1% of Wilms tumors. (AFIP fascicle version 2.0)


conventional leiomyosarcoma

description: An uncommon, aggressive malignant smooth muscle neoplasm. It is characterized by the presence of atypical large spindle or round cells, nuclear palisading, tumor cell necrosis, mitotic figures and may be associated with vascular invasion.


name: ulna hypoplasia-intellectual disability syndrome

description: Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation.


name: Angelman syndrome due to imprinting defect in 15q11-q13


name: complex cortical dysplasia with other brain malformations 2

description: Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF5C gene.


name: Prader-Willi syndrome due to imprinting mutation


kidney liposarcoma

description: A rare malignant adipose tissue neoplasm of the fat cells surrounding the kidney, usually of the well-differentiated or myxoid type. It may be associated with tuberous sclerosis.


Basaran Yilmaz syndrome

description: A congenital hypotrichosis that is characterized by trichorrhexis nodosa and trichoptilosis, dry skin, keratosis pilaris and leukonychia totalis. Other features include progressive transgrediens type of palmoplantar keratoderma, and hyperkeratotic lesions on the knees, elbows and perianal region.


name: keratosis follicularis spinulosa decalvans

description: Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma.


name: inclusion body myopathy with Paget disease of bone and frontotemporal dementia

description: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy); early-onset Paget disease of bone, manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia, manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure.


name: congenital primary megaureter, refluxing and obstructed form


name: mitochondrial proton-transporting ATP synthase complex deficiency

description: A rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS).


hypogonadism, deer

description: Hypogonadism that occurs in deer.


name: mitochondrial DNA depletion syndrome, hepatocerebrorenal form


galactosemia, non-human animal

description: Galactosemia that occurs in non-human animals.


mirror movements 2

description: Any familial congenital mirror movements in which the cause of the disease is a mutation in the RAD51 gene.


post-traumatic epilepsy

description: Recurrent seizures causally related to CRANIOCEREBRAL TRAUMA. Seizure onset may be immediate but is typically delayed for several days after the injury and may not occur for up to two years. The majority of seizures have a focal onset that correlates clinically with the site of brain injury. Cerebral cortex injuries caused by a penetrating foreign object (CRANIOCEREBRAL TRAUMA, PENETRATING) are more likely than closed head injuries (HEAD INJURIES, CLOSED) to be associated with epilepsy. Concussive convulsions are nonepileptic phenomena that occur immediately after head injury and are characterized by tonic and clonic movements. (From Rev Neurol 1998 Feb;26(150):256-261; Sports Med 1998 Feb;25(2):131-6)


gestational trophoblastic neoplasm

description: A diverse group of pregnancy-related tumors characterized by excessive proliferation of trophoblasts. Representative examples include hydatidiform mole, gestational choriocarcinoma, and placental site trophoblastic tumor.


large B-cell lymphoma

description: A B-cell lymphoma that is characterized by large lymphoid cells of the B-cell lineage that by definition form sheets or clusters.


Meckel syndrome, type 5

description: Any Meckel syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene.


acute cervicitis

description: Acute inflammation of the cervix. Clinical manifestations include mucopurulent vaginal discharge and burning sensation.


name: enterovirus infectious disease, non-human animal

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


anencephaly

description: A rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus.


orchitis, dog

description: Orchitis that occurs in dog.


vegetative pyoderma gangrenosum

description: A rare subtype of pyoderma gangrenosum disease characterized by a solitary, erythematous, ulcerated plaque, which lacks the violaceous border typically present in classic pyoderma gangrenosum, usually affecting individuals who are otherwise healthy. Histologically, the lesion presents a central layer containing neutrophilic inflammation, surrounded by a palisade of histiocytes, which are rimmed by a lymphocytic infiltrate. In comparison with the other variants of pyoderma gangrenosum, this subtype usually shows a good response to less aggressive treatments and underlying systemic disorders are less frequently associated. It is considered the most benign and uncommon clinical variant of pyoderma gangrenosum.


cerebrocostomandibular syndrome

description: Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis.


maculopapular cutaneous mastocytosis

description: Maculopapular cutaneous mastocytosis (MCM) is a form of cutaneous mastocytosis (CM) characterized by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin.


name: neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures


thalamic disorder

description: A disorder of the thalamus. Causes include brain neoplasms, cerebrovascular disorders, brain trauma, brain hypoxia, infections, and brain hemorrhage. Signs and symptoms include movement and sensory abnormalities, visual abnormalities, ataxia, and coma.


name: autosomal dominant nonsyndromic hearing loss 68

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the HOMER2 gene.


cardiocranial syndrome, Pfeiffer type

description: Pfeiffer-type cardiocranial syndrome is an extremely rare disorder recognized in less than ten patients worldwide and characterized by a congenital heart defect, sagittal craniosynostosis and severe developmental delay (growth retardation and intellectual deficit).


diabetes insipidus, horse

description: Diabetes insipidus that occurs in horse.


name: spondyloepiphyseal dysplasia, MacDermot type

description: Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness.


tricarboxylic acid cycle disorder

description: An inherited metabolic disease that is has its basis in the disruption of tricarboxylic acid cycle.


Alzheimer disease type 1

description: Alzheimer's disease caused by mutation(s) in the APP gene, encoding amyloid-beta A4 protein. The onset of this condition typically occurs before age 65.


split hand, non-human animal

description: Split hand that occurs in non-human animals.


cervical artery dissection

description: A tear within the wall of any of the arteries of the neck (carotid artery or vertebral artery) and that allows blood to separate the wall layers. By separating a portion of the wall of the artery (a layer of the Tunica intima or tunica media), a dissection creates two lumens or passages within the vessel, the native or true lumen, and the "false lumen" created by the new space within the wall of the artery.


name: combined oxidative phosphorylation deficiency 58


PENS syndrome

description: PENS syndrome is a rare, genetic, neurocutaneous syndrome characterized by the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular polycyclically-shaped, epidermal keratotic papules and plaques of ''gem-like'' appearance with a rough surface, typically located on the trunk and proximal limbs, associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and oftalmological abnormalities have also been reported.


familial Alzheimer disease

description: A degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. About 25% of all Alzheimer disease is familial (more than 2 people in a family have AD). When Alzheimer disease begins before 60 or 65 years of age (early-onset AD) about 60% of the cases are familial (also known as Early-onset familial AD). These cases appear to be inherited in an autosomal dominant manner.


name: malignant epithelial tumor of salivary glands


name: non-acquired combined pituitary hormone deficiency with spine abnormalities

description: Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.


fallopian tube disorder

description: A disease involving the fallopian tube.


name: chronic mucocutaneous candidiasis due to lymphokine deficiency


annular atrophic lichen planus

description: Annular atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by both annular and atrophic LP features in the same lesion.


Borjeson-Forssman-Lehmann syndrome

description: A X-linked yndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.


structural epilepsy

description: Structural epilepsies are conceptualized as having a distinct structural brain abnormality that has been demonstrated to be associated with a substantially increased risk of epilepsy in appropriately designed studies. The structural brain abnormality can be acquired (such as due to stroke, trauma or infection) or may be of genetic origin; however, as we currently understand it, the structural brain abnormality is a separate disorder interposed between the acquired or genetic defect and the epilepsy.


name: hyperphosphatasia with intellectual disability syndrome 3

description: Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP2 gene.


acute flaccid myelitis

description: An acute onset of focal limb weakness that is associated mainly with gray matter abnormalities or CSF pleocytosis, but which is without an apparent cause.


myotonic syndrome

description: An inherited or acquired, localized or generalized disorder affecting the muscles. It may be associated with abnormalities in the chloride or sodium channels of the muscles. It is characterized by delayed muscle relaxation following stimulation or contraction. Representative examples include myotonia congenita and myotonic dystrophy.


eccrine mixed tumor of skin

description: A rare, benign, slow-growing and painless neoplasm of sweat glands. It usually arises in the head and neck. It is characterized by the presence of a mesenchymal chondroid stroma, fibrosis, and epithelial structures.


SAMHD1-related type 1 interferonopathy

description: Any type 1 interferonopathies in which the cause of the disease is a variation in the SAMHD1 gene. Individuals with variants in SAMHD1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and chilblain lupus.


polydactyly, Western roe deer

description: Polydactyly that occurs in Western roe deer.


urolithiasis, cattle

description: Urolithiasis that occurs in cattle.


PSAT deficiency

description: Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia.


name: developmental and epileptic encephalopathy, 69


name: leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome


prurigo

description: A name applied to several itchy skin eruptions of unknown cause. The characteristic course is the formation of a dome-shaped papule with a small transient vesicle on top, followed by crusting over or lichenification. (From Dorland, 27th ed)


name: arrhythmogenic cardiomyopathy with variable ectodermal abnormalities


name: polymicrogyria with or without vascular-type Ehlers-Danlos syndrome


pontocerebellar hypoplasia type 6

description: Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis.


name: neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity


name: corticosterone methyloxidase type 2 deficiency


hepatitis, infectious canine

description: A contagious disease caused by canine adenovirus (adenoviruses, canine) infecting the liver, the eye, the kidney, and other organs in dogs, other canids, and bears. Symptoms include fever; edema; vomiting; and diarrhea.


name: FASTKD2-related infantile mitochondrial encephalomyopathy


name: Van den Ende-Gupta syndrome, non-human animal

description: Van den Ende-Gupta syndrome that occurs in non-human animals.


osteogenesis imperfecta, type 18

description: Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life ({1:Doyard et al., 2018}).


name: glutathione synthetase deficiency without 5-oxoprolinuria


autosomal dominant hypocalcemia 1

description: Any autosomal dominant hypocalcemia in which the cause of the disease is a mutation in the CASR gene.


primary lymphoma of the conjunctiva

description: Primary lymphoma of the conjunctiva is an extremely rare clonal lymphoid proliferation of the ocular surface, with an indolent course. Clinically it presents with treatment-resistant conjunctivitis, ptosis, excessive tear production or as a painless, salmon-pink, ''fleshy'' patch, with a smooth or multinodular surface, on the bulbar conjunctiva. Histologically it is usually B-cell Non-Hodgkin lymphoma (most often extranodal marginal zone B-cell lymphoma, followed by follicular and diffuse large B-cell lymphoma), with conjunctival T-cell Non-Hodgkin lymphoma being very rare.


name: ossification anomalies-psychomotor developmental delay syndrome

description: Ossification anomalies-psychomotor developmental delay syndrome is characterized by hypomineralisation of the cranial bones, thoracic dystrophy, hypotonia, and abnormal and slender long bones due to an alteration in remodeling during ossification.


name: Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome

description: A rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease.


name: non-syndromic metopic and sagittal craniosynostosis


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


name: hypertrophic cardiomyopathy, Rhesus monkey

description: Hypertrophic cardiomyopathy that occurs in Rhesus monkey.


TRAF3 haploinsufficiency

description: Any Mendelian disease in which the cause of the disease is a mutation in the TRAF3 gene. TRAF3 haploinsufficiency caused by heterozygous loss of function (null) variants presents as an immune dysregulation syndrome of recurrent bacterial infections, autoimmunity, systemic inflammation, B cell lymphoproliferation, and hypergammaglobulinemia.


microcephaly-cardiomyopathy syndrome

description: A syndrome characterized by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive.


description: X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome is characterized by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration. This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23.


name: chlamydia trachomatis infectious disease

description: An infection that is caused by Chlamydia trachomatis.


name: Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology


name: hypogonadotropic hypogonadism 24 without anosmia

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


ventricular tachycardia, familial

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


Proteus-like syndrome

description: Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome but who share a multitude of characteristic clinical features of the disease.


bilateral frontoparietal polymicrogyria

description: A descriptive term reflecting increased gyral folding in the frontoparietal regions as determined by magnetic resonance imaging. It has subsequently been shown to represent a cobblestone malformation on histopathology. BFPP typically presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non-progressive cerebellar ataxia, deconjugate gaze, and/or strabismus.


name: partial duplication of the long arm of chromosome 3

description: Chromosome 3q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on thelong arm (q) of chromosome 3. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 3q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person.


description: Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia.


name: acrofacial dysostosis, Kennedy-Teebi type

description: Acrofacial dysostosis, Kennedy-Teebi type was reported as a new type of acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beakednose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype.


chromosome 4 disorder

description: Chromosomal disorder in which chromosome 4 is affected.


nutritional deficiency disease

description: A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (From Dorland, 27th ed; Stedman, 25th ed)


cerebellar neoplasm

description: A benign or malignant (primary or metastatic) tumor involving the cerebellum. -- 2003


autosomal recessive osteopetrosis 3

description: Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.


name: frontotemporal dementia and/or amyotrophic lateral sclerosis 6

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


name: epiphyseal dysplasia dysmorphism camptodactyly


supine hypotensive syndrome

description: A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus.


larva migrans, visceral

description: A condition produced in humans by the prolonged migration of animal nematode larvae in extraintestinal tissues other than skin; characterized by persistent hypereosinophilia, hepatomegaly, and frequently pneumonitis, commonly caused by Toxocara canis and Toxocara cati.


name: syndromic X-linked intellectual disability Siderius type


name: IKBKG-related immunodeficiency with or without ectodermal dysplasia

description: Any recessive immunodeficiency (ID), with or without ectodermal dysplasia (EDA), in which the cause of the disease is mutation in the IKBKG gene. ID/EDA-ID patients, always males, are hemizygous for an IKBKG (NEMO) mutation that preserves residual NF-κB activation (hypomorphic mutations) and may also present with osteopetrosis and lymphoedema (OL-EDA-ID).


amnionitis

description: Inflammation of the amnion.


penile sarcoma

description: A malignant soft tissue neoplasm that arises from the penis. Representative examples include Kaposi sarcoma, leiomyosarcoma, and angiosarcoma.


enterobiasis

description: An infection that is caused by the nematode Enterobius vermicularis; it is characterized predominantly by perianal pruritus.


name: dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive

description: A dopa-responsive dystonia characterized by marked motor delay, but no intellectual disability, and only minimal, if any, hyperphenylalaninemia.


description: Holoprosencephaly-craniosynostosis syndrome is a rare developmental defect during embryogenesis syndrome characterized by the association of primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay are additional common features.


acute frontal sinusitis

description: Acute form of frontal sinusitis.


craniolenticulosutural dysplasia

description: Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.


bipolar I disorder

description: A bipolar disorder that is characterized by at least one manic or mixed episode.


benign neonatal seizures

description: A rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.


name: congenital anomaly of kidney and urinary tract

description: A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux.


valvar pulmonary stenosis

description: A congenital cardiovascular malformation of the pulmonary valve in which there is narrowing or stricture (obstruction to flow).


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

description: A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. However, calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood.


ameloblastoma, non-human animal

description: Ameloblastoma that occurs in non-human animals.


name: developmental and epileptic encephalopathy, 90


borna disease

description: An encephalomyelitis of horses, sheep and cattle caused by borna disease virus.


name: spastic paraplegia 86, autosomal recessive


vitiligo, water buffalo

description: Vitiligo that occurs in water buffalo.


name: B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)


name: intellectual developmental disorder, autosomal recessive 68


lymphoid system disorder

description: A disease or disorder that involves the lymphoid system.


congenital myopathy, Paradas type

description: Paradas type congenital myopathy is an early-onset form of dysferlinopathy presenting with postnatal hypotonia, weakness in the proximal lower limbs and neck flexor muscles at birth and delayed motor development.


near-fatal asthma

description: An acute asthma that is characterized by a respiratory arrest or arterial carbon dioxide tension greater than 50 mmHg, with or without altered consciousness, requiring mechanical ventilation.


neuritis of upper limb

description: A neuritis that involves the forelimb.


iatrogenic disease, non-human animal

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


name: Ambras type hypertrichosis universalis congenita

description: Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth.


name: neurodevelopmental disorder with absent speech and movement and behavioral abnormalities


non specific chronic endometritis

description: Chronic endometritis characterized by the presence of plasmacytic infiltrates in the endometrium. There are no granulomas present.


name: psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome


skin angiosarcoma

description: A malignant vascular neoplasm arising from the skin.


name: benign male reproductive system neoplasm

description: A non-metastasizing neoplasm that arises from the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, seminal vesicle cystadenoma, and epididymal adenomatoid tumor.


distal 10q deletion syndrome

description: Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay.


mycobacterial infectious disease

description: Infection due to organisms from the genus Mycobacteria.


myopathy, distal, 5

description: Any distal myopathy in which the cause of the disease is a mutation in the ADSSL1 gene.


name: non-specific autoimmune supratentorial encephalitis with characteristic antibodies


canine lung adenocarcinoma

description: A carcinoma that arises from the lung in dogs and is characterized by the presence of malignant glandular epithelial cells.


name: spinal muscular atrophy with intellectual disability


escherichia coli discitis

description: Discitis caused by infection with Escherichia coli.


name: colorectal cancer, susceptibility to, 11


name: childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder


inherited epidermolysis bullosa

description: Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues.


benign neoplasm of adrenal medulla

description: A benign neoplasm that involves the adrenal medulla.


graft versus host disease

description: An immune system disorder that occurs after allogeneic hematopoietic stem cell transplant and is a reaction of donor immune cells against host tissues. Activated donor T cells damage host epithelial cells after an inflammatory cascade that begins with the preparative regimen.


name: cornea guttata with anterior polar cataracts


name: combined hyperactive dysfunction syndrome of the cranial nerves


immunodeficiency 47

description: Any primary immunodeficiency disease in which the cause of the disease is a mutation in the ATP6AP1 gene.


ocular vascular disorder

description: A disorder that is caused by pathologic changes in the ocular vasculature.


name: metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria

description: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.


adult pleomorphic rhabdomyosarcoma

description: An aggressive rhabdomyosarcoma occurring in adults. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually in the lower extremities.


interventricular septum aneurysm

description: Interventricular septum aneurysm is a rare, non-syndromic, congenital heart malformation characterized by the presence of a congenital aneurysm of the membranous portion of the interventricular septum. Patients may be asymptomatic or may present with ventricular or supraventricular tachycardia, fatigue, exertional dyspnea, palpitations, and cardiac murmur. Ventricular septal defects and conduction defects, such as first-degree atrio-ventricular block or incomplete right bundle branch block, may also be also associated.


name: pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis

description: A rare subgroup of pulmonary arterial hypertension (PAH) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction.


sudden sensorineural hearing loss

description: Sensorineural hearing loss which develops suddenly over a period of hours or a few days. It varies in severity from mild to total deafness. Sudden deafness can be due to head trauma, vascular diseases, infections, or can appear without obvious cause or warning.


name: type II hypersensitivity reaction disease

description: A disease that has its basis in the disruption of type II hypersensitivity.


name: severe nonproliferative diabetic retinopathy


name: autosomal recessive nonsyndromic hearing loss 102

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the EPS8 gene.


name: intellectual disability, autosomal recessive 44

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the METTL23 gene.


name: neurodevelopmental disorder with hypotonia and gross motor and speech delay


brachial amyotrophic diplegia

description: A neurodegenerative condition characterized by asymmetric weakness in the upper extremities resulting from segmental lower motor neuron dysfunction.


UV-sensitive syndrome

description: UV-sensitive syndrome is a condition that is characterized by sensitivity to the ultraviolet (UV) rays in sunlight. Even a small amount of sun exposure can cause a sunburn in affected individuals. In addition, these individuals can have freckles, dryness, or changes in coloring (pigmentation) on sun-exposed areas of skin after repeated exposure. Some people with UV-sensitive syndrome have small clusters of enlarged blood vessels just under the skin (telangiectasia), usually on the cheeks and nose. Although UV exposure can cause skin cancers, people with UV-sensitive syndrome do not have an increased risk of developing these forms of cancer compared with the general population.


hemophilia B, dog

description: Hemophilia B that occurs in dog.


epithelioid sarcoma

description: An aggressive malignant neoplasm of uncertain differentiation, characterized by the presence of epithelioid cells forming nodular patterns. The nodules often undergo central necrosis, resulting in a pseudogranulomatous growth pattern. It usually occurs in young adults. The most common sites of involvement are the extremities (distal-type epithelioid sarcoma), and less frequently the pelvis, perineum, and genital organs (proximal-type epithelioid sarcoma).


name: leukodystrophy and acquired microcephaly with or without dystonia;


early onset hypertension

description: A form of hypertension with early onset relative to normal range for a given population.


isolated congenital alacrima

description: Congenital alacrima is characterized by deficient lacrimation (ranging from a complete absence of tears to hyposecretion of tears) that is present from birth.


name: partial trisomy of the long arm of chromosome 18


lissencephaly 6 with microcephaly

description: Any microlissencephaly in which the cause of the disease is a mutation in the KATNB1 gene.


name: childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome


name: colorectal cancer, susceptibility to, 10

description: Any colorectal cancer in which the cause of the disease is a mutation in the POLD1 gene.


name: neurodevelopmental disorder with epilepsy and brain atrophy


Kousseff syndrome

description: A syndrome characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11.