granulomatous amebic encephalitis

description: Granulomatous amebic encephalitis is a life-threatening infection of the brain caused by the free-living amoebae Acanthamoeba spp., Balamuthia mandrillaris and Sappinia pedata. Acanthamoeba species, are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units. The disease affects immunocompromised people and is very serious. Symptoms include mental status changes, loss of coordination, fever, muscular weakness or partial paralysis affecting one side of the body, double vision, sensitivity to light and other neurologic problems. The diagnosis is difficult and is often made at advanced stages. Tests useful in the diagnosis include brain scans, biopsies, or spinal taps and in disseminated disease, biopsy of the involved sites and testing by the laboratory experts. Early diagnosis is important for the prognosis. No single drug is effective; hence multiple antibiotics are needed for successful treatment. A combination of surgical and medical interventions involving multiple specialty experts is required to prevent death and morbidity in survivors.


disorder of glycosylation

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

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


intellectual disability, X-linked 104

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FRMPD4 gene.


name: spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome


name: developmental and epileptic encephalopathy, 76

description: An autosomal recessive form of early infantile epileptic encephalopathy, caused by mutation(s) in the ACTL6B gene, encoding actin-like protein 6B.


retinitis pigmentosa 58

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF513 gene.


name: localized lichen myxedematosus with mixed features of different subtypes

description: Localized lichen myxedematosus (LM) with mixed features of different subtypes is a form of atypical lichen myxedematosus, characterized by mixed features of the 5 subtypes of localized LM which are: discrete papular LM, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and nodular LM.


name: microcephaly, epilepsy, and diabetes syndrome


commissural lip fistula

description: A cysts and fistulae of the face and oral cavity that involves the labial commissure.


name: inherited bleeding disorder, platelet-type


acrofacial dysostosis, Weyers type

description: Acrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome, an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner.


hereditary spastic paraplegia 63

description: An extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2.


adrenoleukodystrophy

description: A peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency.


hereditary night blindness

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


patellar tendinitis

description: A tendinitis that involves the patella.


name: autosomal recessive nonsyndromic hearing loss 59

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


name: SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome


name: combined oxidative phosphorylation deficiency 37


childhood epithelioid sarcoma

description: An epithelioid sarcoma occurring in childhood.


fetal methylmercury syndrome

description: Foetal methylmercury syndrome is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury.


oligoasthenoteratozoospermia

description: A form of male infertility that is characterized by a combination of low number or oligozoospermia, poor motility or asthenozoospermia, and abnormal shape or teratozoospermia of sperms. OAT is the most common cause of male subfertility.


Sandhoff disease

description: Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterized by central nervous system degeneration.


infantile bilateral striatal necrosis

description: Several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic.


name: epidermolytic hyperkeratosis 2A, autosomal dominant


factor VII deficiency, dog

description: Factor VII deficiency that occurs in dog.


name: scapuloperoneal spinal muscular atrophy, autosomal dominant


pelviscapular dysplasia

description: Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism.


bone sarcoma

description: A sarcoma that arises from the bone. Representative examples are osteosarcoma and chondrosarcoma.


name: centripetalis recessive dystrophic epidermolysis bullosa

description: Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB), characterized by blistering which begins acrally and then progressively spreads toward the trunk.


name: skin creases, congenital symmetric circumferential, 2


acrocardiofacial syndrome

description: Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit.


branchiootic syndrome

description: Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (including cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space).


human herpesvirus 8 infection

description: An infectious process caused by the human herpesvirus 8. This infection is associated with Kaposi sarcoma.


name: partial monosomy of the long arm of chromosome 10


name: Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin


name: epidermolysis bullosa simplex with nail dystrophy


name: multinodular goiter-cystic kidney-polydactyly syndrome

description: Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies.


name: congenital absence of both forearm and hand

description: Congenital absence of both forearm and hand is a rare developmental defect during embryogenesis characterized by unilateral or bilateral arrest of proximal to distal development of the upper limb, leading to a transverse deficiency with absence of the forearm, wrist and hand. A short below-the-elbow amputation is most commonly observed and the residual limb is usually well cushioned, with rudimentary nubbins or dumpling possibly found on the end.


name: congenital autosomal recessive small-platelet thrombocytopenia

description: A rare isolated constitutional thrombocytopenia characterized by neonatal onset of small-platelet thrombocytopenia with significantly increased bleeding tendency. Bleeding symptoms include petechial rash, mucosal bleeding, and heavy menstrual bleeding. Growth and development are normal, and there is no increased susceptibility to infections.


name: FOXC1-related anterior segment dysgenesis

description: Any anterior segment dysgenesis in which the cause of the disease is a mutation in the FOXC1 gene.


name: autosomal recessive congenital ichthyosis 9

description: Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CERS3 gene.


name: hereditary angioedema with C1Inh deficiency

description: Forms of hereditary angioedema that occur due to mutations in the gene for complement C1 inhibitor protein. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein.


ventricular septal defect, chicken

description: Ventricular septal defect that occurs in chicken.


wooly hair nevus

description: Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occasionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi.


catatonia

description: A psychiatric disorder featuring stupor, posturing, and echophenomena.


name: encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1


EDICT syndrome

description: EDICT (endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning) syndrome is a very rare eye disorder representing a constellation of autosomal dominantly inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia.


name: Tay-Sachs disease, b variant, infantile form


Charcot-Marie-Tooth disease type 1B

description: A sensorineural peripheral polyneuropathy affecting approximately 1 in 2,500 individuals, and is the most common inherited disorder of the peripheral nervous system. Autosomal dominant, autosomal recessive, and X-linked forms have been recognized.


name: intellectual disability, autosomal dominant 54


name: intellectual developmental disorder with abnormal behavior, microcephaly, and short stature


name: melanoma, malignant familial intraocular


time agnosia

description: An agnosia that is a loss of the ability to comprehend the succession and duration of events.


name: fungal infectious disease, non-human animal

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


name: renal tubular dysgenesis of genetic origin

description: An instance of renal tubular dysgenesis that is caused by a modification of the individual's genome.


name: epibulbar lipodermoid-preauricular appendage-polythelia syndrome

description: Epibulbar lipodermoid B preauricular appendages B polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids.


congenital factor XIII deficiency

description: Congenital factor XIII deficiency is an inherited bleeding disorder due to reduced levels and activity of factor XIII (FXIII) and characterized by hemorrhagic diathesis frequently associated with spontaneous abortions and defective wound healing. Factor XIII deficiency is one of the most rare coagulation factor deficiencies.


semantic dementia

description: Semantic dementia (SD) is a form of frontotemporal dementia (FTD), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes.


familial osteosclerosis

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


cranioectodermal dysplasia 2

description: Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the WDR35 gene.


name: postsynaptic congenital myasthenic syndrome


uterine adnexa cancer

description: Evidence of a malignant neoplasm of the uterine adnexa.


toxic or drug-related embryofetopathy

description: Congenital abnormalities caused by medicinal substances or drugs of abuse given to or taken by the mother, or to which she is inadvertently exposed during the manufacture of such substances. The concept excludes abnormalities resulting from exposure to non-medicinal chemicals in the environment.


name: deficiency in anterior pituitary function - variable immunodeficiency syndrome


chromosome 15q11.2 deletion syndrome

description: 15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia).


name: non-spherocytic hemolytic anemia due to hexokinase deficiency

description: Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare conditionmainly characterized by severe, chronic hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe. Some affected individuals reportedly have had various abnormalities in addition to NSHA including multiple malformations, panmyelopathy, and latent diabetes.Itcan be caused by mutations in the HK1 gene and is inherited in an autosomal recessive manner. Treatment may include red cell transfusions for those with severe anemia.


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

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


hypospadias, dog

description: Hypospadias that occurs in dog.


alternariosis

description: Opportunistic fungal infection by a member of Alternaria genus.


seasonal affective disorder

description: A syndrome characterized by depressions that recur annually at the same time each year, usually during the winter months. Other symptoms include anxiety, irritability, decreased energy, increased appetite (carbohydrate cravings), increased duration of sleep, and weight gain. sad (seasonal affective disorder) can be treated by daily exposure to bright artificial lights (phototherapy), during the season of recurrence.


horse sarcoid

description: A fibroblastic tumor that occurs in the skin of a horse.


name: lip herpes simplex type 1 infectious disorder

description: Any herpes simplex type 1 infectious disease that involves the lip. This virus usually responsible for cold sores (herpes labialis).


name: demyelinating disease of central nervous system

description: Any condition in which there is degeneration of the myelin sheath that covers the nerves of the central nervous system.


skeletal tuberculosis

description: Tuberculosis of the bones or joints.


tarsal kink syndrome

description: Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery.


adult polyglucosan body disease

description: Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia.


name: childhood encephalopathy due to thiamine pyrophosphokinase deficiency


Charcot-Marie-Tooth disease type 1

description: Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity.


edema disease of swine

description: An acute disease of young pigs that is usually associated with weaning. It is characterized clinically by paresis and subcutaneous edema.


hypotrichosis 6

description: Any hypotrichosis in which the cause of the disease is a mutation in the DSG4 gene.


vulvar leiomyoma

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


myopathy caused by variation in POMGNT2

description: Any myopathy in which the cause of the disease is a variation in the POMGNT2 gene.


orofaciodigital syndrome type 14

description: Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated.


Horner syndrome, cattle

description: Horner syndrome that occurs in cattle.


valine metabolism disease

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


notochordal tumor

description: A bone tumor arising from the remnants of the fetal notochord. This category includes the chordoma and benign notochordal cell tumor.


therapy-related myeloid neoplasm

description: Acute myeloid leukemias, myelodysplastic syndromes, and myelodysplastic/myeloproliferative neoplasms arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders.


Aicardi-Goutieres syndrome 6

description: Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the ADAR gene.


Braddock syndrome

description: Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect.


Aksu von Stockhausen syndrome

description: A syndrome characterized by a malformations of the neck due to a branchial arch defect. In the neonatal period the following signs were noted: symmetrical preauricular pits, retroauricular additional rudimentary auricles, a blindly ending coccygeal groove, microstomia and papillomata of the hypopharynx. This is an n-of-1 use case where only one patient or family has been described with this disorder.


name: autosomal recessive optic atrophy, OPA7 type


ocular onchocerciasis

description: Onchocerciasis affecting the eye.


myopathy, tubular aggregate, 2

description: Any tubular aggregate myopathy in which the cause of the disease is a mutation in the ORAI1 gene.


congenital hypothyroidism, goat

description: Congenital hypothyroidism that occurs in goat.


hereditary spastic paraplegia 33

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ZFYVE27 gene.


ciliary body disorder

description: A disease involving the ciliary body.


name: transgrediens et progrediens palmoplantar keratoderma


name: Amobarbital, deficient N-hydroxylation of


name: diaphragmatic hernia 4, with cardiovascular defects


name: ALG8-congenital disorder of glycosylation

description: A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.


bone chondrosarcoma

description: A chondrosarcoma (disease) that involves the bone tissue.


southeast Asian ovalocytosis

description: Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones.


name: Charcot-Marie-Tooth disease recessive intermediate A

description: Autosomal recessive intermediate Charcot-Marie-Tooth disease type A is a subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology.


familial developmental dysphasia

description: Familial developmental dysphasia is a severe form of developmental verbal apraxia characterized by a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters, and comprehension delay. Hearing and intelligence are normal.


retinitis pigmentosa 73

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


multiple synostoses syndrome 3

description: Any multiple synostoses syndrome in which the cause of the disease is a mutation in the FGF9 gene.


Acromicric dysplasia

description: A rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.


rifampicin-resistant tuberculosis

description: A form of drug-resistant tuberculosis that is resisant to rifampicin with or without resistance to other antitubercular medications.


patent ductus arteriosus, cattle

description: Patent ductus arteriosus that occurs in cattle.


name: epilepsy, familial focal, with variable foci 2

description: Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL2 gene.


name: colobomatous optic disc-macular atrophy-chorioretinopathy syndrome

description: A rare genetic eye disease characterized by optic disk anomalies (bilateral colobomatous optic disks, retinal vessels arising from the peripheral optic disk) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity.


lymph node neoplasm

description: A neoplasm involving a lymph node.


PSPH deficiency

description: 3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome.


follicular dendritic cell sarcoma

description: A neoplasm composed of spindle to ovoid cells which have morphologic and immunophenotypic characteristics of follicular dendritic cells. It affects lymph nodes and other sites including the tonsils, gastrointestinal tract, spleen, liver, soft tissues, skin, and oral cavity. It usually behaves as a low grade sarcoma. Treatment options include complete surgical removal of the tumor with or without adjuvant chemotherapy or radiotherapy. Recurrences have been reported in up to half of the cases.


name: developmental delay, hypotrophy, and dysmorphic features without moebius syndrome

description: A syndrome that is characterized by developmental delay, hypotrophy, and dysmorphic features and that has material basis in homozygous ultra-rare REV3L variant (T2753R).


name: cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome


cycloplegia

description: Cycloplegia is paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation.


microphthalmia, dog

description: Microphthalmia that occurs in dog.


name: autoimmune thrombocytopenic purpura, dog

description: Autoimmune thrombocytopenic purpura that occurs in dog.


tenosynovial giant cell tumor

description: A tumor usually arising in the synovium of joints, bursa or tendon sheath. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. According to the growth pattern, it is classified as localized or diffuse.


name: secondary central precocious puberty in female


common peroneal nerve lesion

description: A peripheral nerve lesion that involves the common fibular nerve.


ciliopathy

description: A genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function.


name: X-linked neurodegenerative syndrome, Hamel type

description: An X-linked neurodegenerative disorder characterized by intellectual deficit, blindness, convulsions, spasticity, mild hypomyelination and early death. It has been described in about ten male members from two generations of one family. The genetic defect responsible for the disorder is located in the pericentromeric region of the X chromosome, Xp11.3-q12.


name: autosomal dominant nonsyndromic hearing loss 52

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31.1-q32.


name: B-lymphoblastic leukemia/lymphoma MLL rearranged

description: A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the KMT2A gene at 11q23.3 and another gene partner resulting in the production of a KMT2A related fusion protein.


germ cell benign neoplasm

description: A benign neoplasm that derives from germ cells.


bladder leiomyoma

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


internal carotid artery stenosis

description: Carotid stenosis is a narrowing or constriction of the inner surface (lumen) of the carotid artery, usually caused by atherosclerosis. The internal carotid artery supplies the brain. Plaque often builds up at that division, and causes a narrowing (stenosis). Pieces of plaque can break off and block the small arteries above in the brain, which causes a stroke. Plaque can also build up at the origin of the carotid artery at the aorta.


Marshall-Smith syndrome

description: Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth.


Pelger-Huet anomaly, dog

description: Pelger-Huet anomaly that occurs in dog.


name: syndromic X-linked intellectual disability Shrimpton type

description: X-linked intellectual disability, Shrimpton type is characterized by the association of severe intellectual deficit with microcephaly, strabismus and short stature. It has been described in three boys from two unrelated families. Transmission is X-linked recessive and the causative gene has been localized to the q12-Xq21.31 region of the X-chromosome.


name: choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome


name: autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome

description: Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome is a rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts.


dilated cardiomyopathy, pig

description: Dilated cardiomyopathy that occurs in pig.


name: neurodegeneration with brain iron accumulation 4

description: Mitochondrial membrane protein-sssociated neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities.


name: combined oxidative phosphorylation defect type 14

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the FARS2 gene.


name: growth hormone insensitivity syndrome with immune dysregulation


ataxia telangiectasia, pig

description: Ataxia telangiectasia that occurs in pig.


burkholderia infectious disease

description: Infections with bacteria of the genus Burkholderia.


name: diabetes insipidus, nephrogenic, autosomal


name: epidermal nevus vitamin D resistant rickets


central nervous system neoplasm

description: A benign or malignant, primary or metastatic neoplasm that affects the brain, meninges, or spinal cord. Representative examples of primary neoplasms include astrocytoma, oligodendroglioma, ependymoma, and meningioma. Representative examples of metastatic neoplasms include carcinoma and leukemia.


A20 haploinsufficiency

description: Any immune dysregulation disease in which the cause of the disease is a mutation in the TNFAIP3 gene.


name: proteasome-associated autoinflammatory syndrome 6


nasal encephalocele

description: Nasal encephalocele is an extracranial herniation of intracranial contents (that maintain a connection to the subarachnoid space) into the fonticulus frontalis, presenting with nasal broadening and/or as a compressible, blue, pulsatile mass near the nasal bridge (that enlarges on crying or with jugular vein compression) or as an intranasal mass originating in the cribiform plate and that can cause nasal obstruction or respiratory distress. Hydrocephalus and increased intracranial pressure are also reported in some cases.


name: congenital stationary night blindness 1G

description: A congenital stationary night blindness characterized by autosomal recessive inheritance that has material basis in homozygous mutation in the GNAT1 gene on chromosome 3p21.


primary ciliary dyskinesia 10

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF2 gene.


description: Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, cafe-au-lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985.


platelet-type bleeding disorder 14

description: Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the TBXAS1 gene.


amyotrophic lateral sclerosis type 22

description: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TUBA4A gene.


name: congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization

description: A glomerular disease characterized by severe renal failure and nephrotic syndrome at birth, which rapidly improve in the first weeks of life.


name: qualitative or quantitative defects of TRIM32


name: PMP22-RAI1 contiguous gene duplication syndrome


agyria-pachygyria type 1

description: A disorder of neuronal migration that is characterized by abnormal cortex morphology, with pathological features including a variably decreased brain size, enlarged ventricles representing a stage of fetal development rather than hydrocephalus, heterotopia of the inferior olivary bodies that lie between the corpus pontobulbare and their normal location, aberrant or absent corticospinal tract, heterotopia of cerebellar granules and abnormally shaped dentate nuclei.


retinitis pigmentosa 71

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the IFT172 gene.


description: Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome is characterized by osteoporosis, macrocephalus, brachytelephalangy, and hyperextensibility of the joints. Congenital amaurosis and intellectual deficit have also been reported. This syndrome has been described in three members of one family.


description: Triphalangeal thumbs-brachyectrodactyly syndrome is characterized by triphalangeal thumbs and brachydactyly of the hands. It has been described in four families and in one isolated case. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant.


polyglucosan body myopathy type 2

description: Any polyglucosan body myopathy in which the cause of the disease is a mutation in the GYG1 gene.


idiopathic scoliosis

description: A scoliosis with no known cause.


hereditary angioedema with normal C1Inh

description: A rare hereditary angioedema characterized by potentially life-threatening episodes of subcutaneous and/or submucosal edema without urticaria and with normal levels and function of C1 esterase inhibitor. Patients present with prolonged attacks which last for approximately two to five days and may include nonpitting edema of the skin, severe abdominal symptoms such as pain and swelling, and/or respiratory distress due to upper respiratory airways involvement. Affected locations and frequency of attacks differ slightly between subtypes. Estrogen-containing oral contraceptives and pregnancy are precipitating factors, especially in patients with a factor XII mutation.


partial segmental duplication

description: A chromosomal disorder consisting of the partial duplication of chromosome 21.


name: peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain


retinitis pigmentosa 68

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the SLC7A14 gene.


name: myopathy, lactic acidosis, and sideroblastic anemia 2

description: Any mitochondrial myopathy and sideroblastic anemia in which the cause of the disease is a mutation in the YARS2 gene.


diprosopus, domestic cat

description: Diprosopus that occurs in domestic cat.


name: hypogonadotropic hypogonadism 2 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene.


name: acetazolamide-responsive hereditary episodic ataxia

description: Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days, with improvement upon therapy with acetazolamide.


name: central sleep apnea due to periodic breathing


trisomy 22

description: Trisomy 22 is a chromosome disorder in which an extra (third) copy of chromosome 22 is present in every cell of the body where there should normally only be two copies. This condition is commonly found in miscarriages, but only rarely in liveborn infants. Most affected individuals die shortly before or shortly after birth due to severe complications. Common features include an underdeveloped midface (midface hypoplasia)with flat/broad nasal bridge, malformed ears with pits or tags, cleft palate, hypertelorism (wide-spaced eyes), microcephaly and other cranial abnormalities, congenital heart disease, genital abnormalities, and intrauterine growth restriction (IUGR).


name: prenatal-onset spinal muscular atrophy with congenital bone fractures


Rhabditida infectious disease

description: Infections with nematodes of the order rhabditida.


description: X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterized by slow progression of muscle weakness and unique histopathological findings.


Fox-Fordyce disease

description: A chronic skin disease most common in women aged 13-35 years.It is characterized by the development of intense itching in the underarm area, the pubic area, and around the nipple of the breast as a result of perspiration which becomes trapped in the sweat gland and surrounding areas. The cause is unknown, but heat, humidity, and stress may play a role. Treatment may include the use of retinoids, antibiotics, and immunosuppressants.


hereditary spastic paraplegia 45

description: Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported.


angiostrongyliasis

description: A foodborne zoonotic disease, endemic to Southeast Asia and the Pacific Islands, caused by the rat lungworm Angiostrongylus cantonensis and that is acquired by the ingestion of the infective larvae on vegetables or in raw or undercooked snails, slugs, land crabs, freshwater shrimps, frogs and lizards. The main feature is eosinophilic meningitis, with clinical manifestations including fever, headache, malaise, fatigue, vomiting, rhinorrhea, blurred vision, diplopia, cough, stiff neck, enteritis, constipation and paraesthesia due to the movement of the worms from the intestines to the lungs, central nervous system and eyes. In severe cases without treatment, coma and death can occur.


name: cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2

description: Any dysequilibrium syndrome in which the cause of the disease is a mutation in the WDR81 gene.


name: muscular dystrophy, pseudohypertrophic, with Internalized capillaries


name: neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures


name: medial condensing osteitis of the clavicle


malignant mixed neoplasm

description: A malignant neoplasm composed of a carcinomatous epithelial component and a sarcomatous mesenchymal component. Representative examples include malignant mixed mesodermal (Mullerian) tumor of the female reproductive system and carcinosarcoma of the salivary gland and the lung.


contagious pustular dermatitis

description: An infectious dermatitis of sheep and goats, affecting primarily the muzzle and lips. It is caused by a poxvirus and may be transmitted to humans.


name: pyruvate carboxylase deficiency, benign type

description: Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development.


description: Isolated aglossia and hypoglossia are terms covering the spectrum from partial to total absence of the tongue. These congenital malformations have been classified as part of the group of oromandibular-limb hypogenesis syndromes (OLHS).


name: neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies


myoclonus, familial, 1

description: Familial cortical myoclonus caused by heterozygous mutation in the NOL3 gene on chromosome 16q22.


description: Olivopontocerebellar atrophy-deafness syndrome is characterized by infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases.


name: congenital adrenal hypoplasia, crab-eating macaque

description: Congenital adrenal hypoplasia that occurs in crab-eating macaque.


mild heart failure

description: Heart failure characterized by mild symptoms (mild shortness of breath and/or angina) and slight limitation during ordinary activity.


benign familial infantile epilepsy

description: A genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.


benign neoplasm of epididymis

description: A benign neoplasm that involves the epididymis.


childhood infratentorial neoplasm

description: A neoplasm that affects the infratentorial region of the brain and occurs during childhood.


name: severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome

description: An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3.


aortopulmonary coronary arterial course

description: Aortopulmonary coronary arterial course is a rare coronary artery congenital malformation characterized by anomalous origin of the coronary artery from the contralateral sinus of Valsalva with course between the aorta and the pulmonary artery. The anomaly is associated with increased risk of sudden cardiac death, especially during exercise.


name: distal 22q11.2 microduplication syndrome

description: Distal 22q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, hypotonia, growth retardation, velopharyngeal insufficiency, mild craniofacial dysmorphism (microcephaly, tall/broad forehead, small downslating palpebral fissures, hooded eyelids, flat nasal bridge, low posterior hairline) and digital anomalies. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, behavourial problems and seizures have also been reported.


name: Ehlers-Danlos syndrome, spondylodysplastic type, 2

description: Any Ehlers-Danlos syndrome, spondylodysplastic type in which the cause of the disease is a mutation in the B3GALT6 gene.


name: DDX41-related hematologic malignancy predisposition syndrome

description: Any hereditary neoplastic syndrome in which the cause of the disease is a mutation in the DDX41 gene.


description: KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life.


scoliosis, chicken

description: Scoliosis that occurs in chicken.


exanthema subitum

description: An infection that is due to human herpesvirus (HHV) types 6 or 7; it is characterized by 3-5 days of high fever followed by the acute onset of a rosy, pink, non-pruritic, macular rash that is predominantly on the neck and trunk.


name: microcephaly 26, primary, autosomal dominant


name: microcephaly 11, primary, autosomal recessive

description: Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the PHC1 gene.


3q26 microduplication syndrome

description: 3q26 microduplication syndrome is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations.


name: acute transverse myelitis with anti-MOG antibodies


name: skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome


chromosome 3q29 microdeletion syndrome

description: 3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.


name: cerebral calcifications opalescent teeth phosphaturia


immune-mediated necrotizing myopathy

description: Necrotizing autoimmune myopathy (NAM) is a rare form of idiopathic inflammatory myopathy characterized clinically by acute or subacute proximal muscle weakness, and histopathologically by myocyte necrosis and regeneration without significant inflammation.


benign neoplasm of cauda equina

description: A benign neoplasm that involves the cauda equina.


name: autosomal recessive nonsyndromic hearing loss 33

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 10p11.23-q21.1.


name: early repolarization associated with ventricular fibrillation


toxic amblyopia

description: A condition where a toxic reaction in the optic nerve results in visual loss. Various poisonous substances may cause the condition as well as nutritional factors.


name: neuronopathy, distal hereditary motor, autosomal dominant 11


phlebotomus fever

description: Influenza-like febrile viral disease caused by several members of the bunyaviridae family and transmitted mostly by the bloodsucking sandfly Phlebotomus papatasii.


name: SYNGAP1-related developmental and epileptic encephalopathy

description: A rare genetic developmental and epileptic encephalopathy (DEE) characterized by developmental delay, generalized epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD).


name: glycogen storage disease due to muscle beta-enolase deficiency

description: Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle.


subacute sclerosing panencephalitis

description: A chronic progressive encephalitis that develops a few years after measles infection and presents with a demyelination of the cerebral cortex.


facioscapulohumeral muscular dystrophy

description: An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper arm. Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well.


name: lymphoadenopathic mastocytosis with eosinophilia


name: familial idiopathic steroid-resistant nephrotic syndrome

description: Familial idiopathic steroid-resistant nephrotic syndrome is characterized by a nephrotic syndrome with often early onset.


glass-chapman-hockley syndrome

description: The Glass-Chapman-Hockley syndrome is a very rare disease. To date, the syndrome has only been reported in one family with five members affected in three generations. The first patients were two brothers that had an abnormally-shaped head due to coronal craniosynostosis. Their mother, maternal aunt, and maternal grandmother were also found to have the syndrome. The signs and symptoms varied from person to person; however, the signs and symptoms included coronal craniosynostosis, small middle part of the face (midfacial hypoplasia), and short fingers (brachydactyly).The inheritance is thought to be autosomal dominant. No genes have been identified for this syndrome. Treatment included surgery to correct the craniosynostosis. No issues with development and normal intelligence were reported. This is an n-of-1 use case where only one patient or family has been described with this disorder.


mosaic trisomy 5

description: Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (incl. eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated.


EAST syndrome

description: SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia).


non-functioning endocrine neoplasm

description: A hormone producing or non-producing endocrine neoplasm, not associated with a hormonal syndrome.


cholesterol catabolic process disease

description: A disease that has its basis in the disruption of cholesterol catabolic process.


spondylocamptodactyly syndrome

description: Spondylo-camptodactyly syndrome is characterized by camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis.


name: neurodevelopmental disorder with central and peripheral motor dysfunction


nuclear senile cataract

description: A senile cataract that involves the lens nucleus.


spondyloepiphyseal dysplasia

description: An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column and the epiphysis.


name: diaphragmatic defect-limb deficiency-skull defect syndrome

description: This syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated malformations. It has been reported only once in four successive fetuses (two females and two males) born to a nonconsanguineous couple. The spectrum of malformations is wide and includes, besides diaphragmatic hernia and hypoplastic lungs (present in the four fetuses), omphalocele (one case), severe limb hypoplasia (two cases), syndactyly of the toes (two cases), extra spleen (one case), and an ossification defect of the skull (one case). Inheritance seems either to be autosomal recessive or due to a gonadal mosaicism in one parent. Prenatal diagnosis of diaphragmatic hernia and severe lung hypoplasia detected on ultrasonography made the parents opt for termination of the four pregnancies.


cataract 38

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


Alzheimer disease 7

description: An Alzheimer's disease that is characterized by an associated with variation in the region 10p13.


name: ALG11-congenital disorder of glycosylation

description: A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3).


metabolic myopathy

description: A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction.


name: acute myeloid leukemia, NRAS gene mutation

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


congenital bile acid synthesis defect 4

description: An anomaly of bile acid synthesis characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.


metachondromatosis

description: Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions.


name: moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome

description: Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.


name: humeroradial synostosis with craniofacial anomalies


name: goiter, multinodular 1, with or without Sertoli-Leydig cell tumors

description: Any multinodular goiter in which the cause of the disease is a mutation in the DICER1 gene.


cerebral malaria

description: A sequestration of Plasmodium falciparum in the brain, which can cause coma and/or seizures.


persistent truncus arteriosus, dog

description: Persistent truncus arteriosus that occurs in dog.


name: developmental delay with or without epilepsy


hereditary spastic paraplegia 72

description: Any pure hereditary spastic paraplegia in which the cause of the disease is a mutation in the REEP2 gene.


social emotional agnosia

description: An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction.


Watson syndrome

description: Watson syndrome is believed to be a variant of neurofibromatosis type 1. The symptoms of this condition are pulmonary valvular stenosis, cafe-au-lait spots and short stature. IQTest scores for individuals with Watson syndromecan rangebetween 60-100.Many people with this condition also have a larger than average head size (macrocephaly) and Lisch nodules. While mutations in the NF1 gene have been found in families with Watson syndrome, the exactcause of this condition is unknown. The conditionis inherited in an autosomal dominant pattern. Treatment aims at managing the specific symptoms of an individual.


breath-holding Spells

description: Episodic apnea, which is more common in young children and usually resolves by age six.


name: intellectual disability-cardiac anomalies-short stature-joint laxity syndrome

description: A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine and postnatal growth restriction, global developmental delay, intellectual disability, and dysmorphic facial features (such as broad nasal root, anteverted nares, long philtrum, low-set and posteriorly rotated ears, and short neck). Additional reported manifestations are microcephaly, short stature, vertebral abnormalities, joint laxity, ocular, cardiac, and renal defects, and minor limb anomalies. Brain imaging may show hypoplastic corpus callosum, delayed myelination, and cerebral atrophy.


inosine triphosphatase deficiency

description: An inherited condition caused by mutation(s) in the ITPA gene, encoding inosine triphosphate pyrophosphatase. It is characterized by elevated concentrations of inosine triphosphate in erythrocytes.


Sertoli-Leydig cell tumor

description: A sex cord-gonadal stromal tumor consists of leydig cells; sertoli cells; and fibroblasts in varying proportions and degree of differentiation. Most such tumors produce androgens in the Leydig cells, formerly known as androblastoma or arrhenoblastoma. Androblastomas occur in the testis or the ovary causing precocious masculinization in the males, and defeminization, or virilization (virilism) in the females. In some cases, the Sertoli cells produce estrogens.


lipomatous cancer

description: A malignant mesenchymal neoplasm arising from adipocytes.


name: generalized epilepsy with febrile seizures plus, type 6


neuralgic amyotrophy

description: Neuralgic amyotrophy (NA) is an uncommon disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form.


chromosome 2 disorder

description: Chromosomal disorder in which chromosome 2 is affected.


juvenile Paget disease

description: Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss.


name: lethal acantholytic epidermolysis bullosa

description: Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized oozing erosions, usually in the absence of blisters.


name: spastic paraplegia-facial-cutaneous lesions syndrome

description: Spastic paraplegia-facial-cutaneous lesions syndrome is a complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982.


name: COVID-19–associated multisystem inflammatory syndrome in adults

description: A inflammatory syndrome in adults infected by the SARS-CoV-2 with severe illness requiring hospitalization in a person aged ≥21 years; a positive test result for current or previous SARS-CoV-2 infection (nucleic acid, antigen, or antibody) during admission or in the previous 12 weeks; severe dysfunction of one or more extrapulmonary organ systems (e.g., hypotension or shock, cardiac dysfunction, arterial or venous thrombosis or thromboembolism, or acute liver injury); laboratory evidence of severe inflammation (e.g., elevated CRP, ferritin, D-dimer, or interleukin-6); and absence of severe respiratory illness (to exclude patients in which inflammation and organ dysfunction might be attributable simply to tissue hypoxia).


name: qualitative or quantitative defects of myofibrillar proteins


roseolovirus infectious disease

description: Infection with roseolovirus, the most common in humans being exanthema subitum, a benign disease of infants and young children.


name: syndromic X-linked intellectual disability Chudley-Schwartz type

description: A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has material basis in variation in the chromosomal region Xq21.33-q23.


name: auditory system disorder, non-human animal

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


hypotrichosis of eyelid

description: A hypotrichosis that involves the eyelid.


name: T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency

description: A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus.


familial pterygium of the conjunctiva

description: Familial pterygium of the conjunctiva is a rare form of pterygium, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision.


streptococcal infection

description: Any of the several infectious disorders caused by members of streptococcus, a genus of gram positive bacteria belonging to the family Streptococcaceae. Streptococcal infections are classified into Groups A, B, C, D and G.


persistent truncus arteriosus, cattle

description: Persistent truncus arteriosus that occurs in cattle.


fleck corneal dystrophy

description: Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity.


name: neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities


glioma susceptibility 3

description: Any malignant glioma in which the cause of the disease is a mutation in the BRCA2 gene.


name: acinar dysplasia caused by mutation in TBX4

description: Any acinar dysplasia in which the cause of the disease is a mutation in the TBX4 gene.


hand-foot-genital syndrome

description: Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects.


name: sex chromosome disorder of sex development

description: Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including monosomy; trisomy; and mosaicism.


name: simian acquired immunodeficiency syndrome

description: Acquired defect of cellular immunity that occurs naturally in macaques infected with srv serotypes, experimentally in monkeys inoculated with srv or mason-pfizer monkey virus; (mpmv), or in monkeys infected with simian immunodeficiency virus.


cardiomyopathy, chicken

description: Cardiomyopathy that occurs in chicken.


name: partial deletion of the short arm of chromosome 2


name: deafness, congenital, and adult-onset progressive leukoencephalopathy


intellectual disability, X-linked 93

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the BRWD3 gene.


Ahumada Del Castillo syndrome

description: A syndrome characterized by galactorrhea and amenorrhea with symptoms of estrogenic insufficiency and absence of urinary gonadotropins.


name: neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive


autoimmune disorder of exocrine system

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


d-bifunctional protein deficiency

description: A genetic disorder that affects the ability of the body to effectively break down fat from our diet. It is typically characterized by hypotonia (low muscle tone) and seizures in the newborn period. Other symptoms include unusual facial features and an enlarged liver (hepatomegaly). Most babies with this condition nevergain anydevelopmental skills and do not survive past the age of 2. DBP deficiency is caused by mutations in the HSD17B4 gene and is inherited in an autosomal recessive manner. Some researchers have suggested classifying DBP deficiency into three subtypes, depending on how severely the mutation in the HSD17B4 gene affects the function of the gene and the protein that it codes for. Almost all individuals with types I, II, and III have similar signs and symptoms. A fourth subtype has additionally been proposed for individuals that have less severe symptoms. While there is no cure for DBP deficiency, treatment is focused on improving nutrition and growth, controlling symptoms, and limiting the progression of liver disease.


vitiligo, dog

description: Vitiligo that occurs in dog.


name: indolent primary cutaneous T-cell lymphoma


clonal hematopoiesis

description: A precancerous condition characterized by cellular proliferation of hematopoietic cells where a substantial proportion of the cells are derived from a single hematopoietic stem cell lineage.


porcine lymphoma

description: Lymphoma that occurs in a pig.


cornea neoplasm

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


Sillence syndrome

description: Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic.


geotrichosis

description: Infection due to the fungus Geotrichum.


name: short-rib thoracic dysplasia 13 with or without polydactyly

description: An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23.


peroneal neuropathy

description: Disease involving the common peroneal nerve or its branches, the deep and superficial peroneal nerves. Lesions of the deep peroneal nerve are associated with paralysis of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. Lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. Traumatic injury to the common peroneal nerve near the head of the fibula is a relatively common cause of this condition. (From Joynt, Clinical Neurology, 1995, Ch51, p31)


van den Bosch syndrome

description: A syndrome characterized by intellectual deficit, choroideremia, acrokeratosis verruciformis, anhidrosis, and skeletal deformities. It has been observed in a single kindred. The syndrome is transmitted as an X-linked recessive trait and may be caused by a small X-chromosome deletion.


name: abdominal obesity-metabolic syndrome quantitative trait locus 2


spina bifida, cattle

description: Spina bifida that occurs in cattle.


familial goiter, sheep

description: Familial goiter that occurs in sheep.


name: hypertrichotic osteochondrodysplasia Cantu type

description: Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.


X-linked ichthyosis syndrome

description: X-linked form of inherited ichthyosis syndromic form.


chromosome 10 disorder

description: Chromosomal disorder in which chromosome 10 is affected.


IFIH1-related type 1 interferonopathy

description: Any type 1 interferonopathies in which the cause of the disease is a variation in the IFIH1 gene. Individuals with variants in IFIH1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and singleton-Merten syndrome.


thymic-renal-anal-lung dysplasia

description: This syndrome is characterized by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus.


narcolepsy without cataplexy

description: A type of narcolepsy characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and sometimes paralysis at sleep, hypnagogic hallucinations and automatic behavior.


arachnoiditis

description: Arachnoiditis (ARC) is a chronic inflammation of the arachnoid layer of the meninges, of which adhesive arachnoiditis is the most severe form, characterized by debilitating, intractable neurogenic back and limb pain and a range of other neurological problems.


odontoleukodystrophy

description: Leukodystrophy with oligodontia is characterized by progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.


strongyloidiasis

description: An infection that is caused by nematodes of the genus Strongyloides, most commonly Strongyloides stercoralis, which is a soil-transmitted helminth, and which is characterized by a variety of gastrointestinal, dermatologic, and, occasionally, pulmonary manifestations. The worm's autoinfective life cycle can lead to hyper-infection and life-threatening dissemination in immunocompromised hosts decades after initial infection.


separation anxiety disorder

description: An anxiety disorder characterized by recurrent excessive distress due to fear of separation from the home or from major attachment figures; the distress is developmentally inappropriate and causes impairment in social, academic, or other areas of functioning.


name: emphysema, congenital, with deafness, penoscrotal web, and intellectual disability


choline deficiency disease

description: A condition produced by a deficiency of choline in animals. Choline is known as a lipotropic agent because it has been shown to promote the transport of excess fat from the liver under certain conditions in laboratory animals. Combined deficiency of choline (included in the B vitamin complex) and all other methyl group donors causes liver cirrhosis in some animals. Unlike compounds normally considered as vitamins, choline does not serve as a cofactor in enzymatic reactions. (From Saunders Dictionary & Encyclopedia of Laboratory Medicine and Technology, 1984)


name: developmental delay with short stature, dysmorphic facial features, and sparse hair 2

description: Any developmental delay with short stature, dysmorphic facial features, and sparse hair in which the cause of the disease is a mutation in the DPH2 gene.


MYH-6 related congenital heart defects

description: A heart disease that is present at birth that is caused by a variation in MYH-6. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot and hypoplastic left heart syndrome.


name: methicillin-resistant staphylococcus aureus infectious disease

description: Infections caused by a strain of Staphylococcus aureus that is non-susceptible to the action of the antibiotic, methicillin. The mechanism of resistance usually involves modification of normal or the presence of acquired penicillin binding proteins.


name: tuberculin skin test reactivity, absence of


name: inborn disorder of lysine and hydroxylysine metabolism


chondroid chordoma

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


herpes simplex dermatitis

description: Localized rash characterized by grouped vesicles or pustules on an erythematous base that is caused by herpes simplex virus infection.


name: Klippel-Feil syndrome 1, autosomal dominant

description: Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF6 gene.


name: intellectual disability, short stature, facial anomalies, and joint dislocations


choanal atresia, horse

description: Choanal atresia that occurs in horse.


name: cardiomyopathy-cataract-hip spine disease syndrome

description: Cardiomyopathy - cataract - hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985.


name: subcutaneous tissue disorder, non-human animal

description: Subcutaneous tissue disorder that occurs in non-human animals.


chronic hiccup

description: Chronic hiccup is a rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours.


name: cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis


restrictive dermopathy

description: A congenital genodermatosis with skin/mucosae involvement, characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities.


name: acute myeloid leukemia, t(9;11)(p21.3;q23.3)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(9;11)(p21.3;q23.3). (A cytogenetic abnormality that refers to the translocation of the short arm (p21.3) of chromosome 9 and the long arm (q23.3) of chromosome 11. It is associated with the development of acute myeloid leukemia with the MLLT3-MLL fusion gene transcript.)


hearing disorder, non-human animal

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


name: pyogenic bacterial infections due to MyD88 deficiency

description: Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease.


rigid spine syndrome

description: Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.


cystic fibrosis, sheep

description: Cystic fibrosis that occurs in sheep.


name: cardiomyopathy hypogonadism collagenoma syndrome


parturient paresis

description: A disease of pregnant and lactating cows and ewes leading to generalized paresis and death. The disease, which is characterized by hypocalcemia, occurs at or shortly after parturition in cows and within weeks before or after parturition in ewes.


Brucella suis brucellosis

description: An disease or disorder caused by infection with Brucella suis.


pseudohypoparathyroidism type 1B

description: Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.


name: isolated optic neuritis with anti-MOG antibodies


intracranial vasospasm

description: Constriction of arteries in the skull due to sudden, sharp, and often persistent smooth muscle contraction in blood vessels. Intracranial vasospasm results in reduced vessel lumen caliber, restricted blood flow to the brain, and brain ischemia that may lead to hypoxic-ischemic brain injury (hypoxia-ischemia, brain).


name: symptomatic form of X-linked centronuclear myopathy in female carriers


name: retinal dystrophy with or without macular staphyloma


2q23.1 microdeletion syndrome

description: The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.


name: neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy


physiological polycythemia

description: Polycythemia that is not pathologic.


name: oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies


ventricular septal defect, turkey

description: Ventricular septal defect that occurs in turkey.


osteochondrosis, chicken

description: Osteochondrosis that occurs in chicken.


hereditary spastic paraplegia 34

description: X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients.


tuberculous encephalopathy

description: A tuberculosis that is characterized by cerebral edema sometimes with features similar to acute disseminated encephalomyelitis (ADEM) and may manifest with a variety of symptoms ranging from focal neurological deficits to convulsions and decreased conscious state.


paralytic poliomyelitis

description: A poliomyelitis that results in destruction located in motor neurons of central nervous system, has material basis in Human poliovirus 1, has material basis in Human poliovirus 2, or has material basis in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom loss of reflexes, has symptom muscle spasms, and has symptom acute flaccid paralysis.


childhood carcinoid tumor

description: A rare carcinoid tumor that occurs during childhood.


name: intellectual developmental disorder with seizures and language delay


name: intellectual developmental disorder, autosomal recessive 69


tularemia

description: Tularemia is an infection caused by the bacterium Francisella tularensis. It is more common in rodents and rabbits but has been found in other animals including domestic cats, sheep, birds, and hamsters. Humans can become infected in several different ways: by handling infected animals, through tick or deer fly bites, by drinking contaminated water, or by inhaling contaminated dust or aerosols. Person-to-person transmission has not been reported. The type of tularemia and the particular signs and symptoms vary depending on how the bacteria enter the body. However, fever is seen in most cases. Though tularemia can be life-threatening, most infections can be treated with antibiotics.


name: palmoplantar keratoderma, epidermolytic, 2


CDKL5 disorder

description: A monogenic disease that has material basis in mutation in the CDKL5 gene.


lysosomal storage disease, dog

description: Lysosomal storage disease that occurs in dog.


pseudomembranous conjunctivitis

description: Conjunctivitis that is characterized by formation of a pseudomembrane.


name: attenuated familial adenomatous polyposis

description: Attenuated familial adenomatous polyposis (AFAP) is a mild form of familial adenomatous polyposis characterized by the presence of fewer than 100 adenomatous colonic polyps, a more proximal colonic location, a delayed age of colorectal cancer (CRC) onset and a more limited expression of the extracolonic features.


allergic urticaria

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


fowlpox

description: A poxvirus infection of poultry and other birds characterized by the formation of wart-like nodules on the skin and diphtheritic necrotic masses (cankers) in the upper digestive and respiratory tracts.


name: atrial septal defect, ostium secundum type


pulmonary valve disorder

description: A disease involving the pulmonary valve.


retinitis pigmentosa 11

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF31 gene.


acute myeloid leukemia, del(13q14-q21)

description: Any acute myeloid leukemia that has the chromosomal anomaly del(13q14-q21). (A cytogenetic abnormality that refers to deletion of chromosome bands 14-21 on the long arm of chromosome 13.)


suppression amblyopia

description: A nonspecific term referring to impaired vision. Major subcategories include stimulus deprivation-induced amblyopia and toxic amblyopia. Stimulus deprivation-induced amblyopia is a developmental disorder of the visual cortex. A discrepancy between visual information received by the visual cortex from each eye results in abnormal cortical development. strabismus and refractive errors may cause this condition. Toxic amblyopia is a disorder of the optic nerve which is associated with alcoholism, tobacco smoking, and other toxins and as an adverse effect of the use of some medications.


name: upper digestive tract disorder, non-human animal

description: Upper digestive tract disorder that occurs in non-human animals.


Bamforth-Lazarus syndrome

description: Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.


hypercholesterolemia, familial, 4

description: An autosomal recessive condition caused by mutation(s) in the LDLRAP1 gene, encoding low density lipoprotein receptor adaptor protein 1. The phenotype is similar to that of familial hypercholesterolemia, but generally considered to be a milder form of hypercholesterolemia.


description: A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis.


orofaciodigital syndrome X

description: Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993.


name: X-linked intellectual disability, Stevenson type

description: An X-linked syndromic intellectual disability characterized by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome.


name: mitochondrial complex III deficiency nuclear type 4

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


name: mitochondrial complex 1 deficiency, nuclear type 34


name: congenitally uncorrected transposition of the great arteries with coarctation


retinitis pigmentosa 37

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the NR2E3 gene.


name: developmental and epileptic encephalopathy, 61


name: qualitative or quantitative defects of alpha-actin


mixed testicular germ cell cancer

description: A malignant germ cell tumor that arises from the testis and is characterized by the presence of more than one histologic component. Representative examples include mixed choriocarcinoma and embryonal carcinoma, mixed embryonal carcinoma and seminoma, and mixed yolk sac tumor and teratoma.


congenital muscular dystrophy 1B

description: Congenital muscular dystrophy type 1B is a rare, genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation.


CNGA1-related retinopathy

description: An inherited retinopathy caused by bi-allelic variants in the CNGA1 gene.


aortic aneurysm, familial thoracic 9

description: Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MFAP5 gene.


bovine lymphosarcoma

description: Lymphosarcoma that occurs in a cow.


ventricular septal defect, dog

description: Ventricular septal defect that occurs in dog.


Chediak-Higashi syndrome, American mink

description: Chediak-Higashi syndrome that occurs in American mink.


name: familial infantile bilateral striatal necrosis

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


name: intellectual disability-severe speech delay-mild dysmorphism syndrome

description: Intellectual disability-severe speech delay-mild dysmorphism syndrome, also known as intellectual disability with language impairment and with or without autistic features, is adisorder characterized by global developmental delay with moderate to severe speech delay thataffects expressive speech. Most patients have difficulty articulating words. Common signs and symptoms include broad forehead, downslanting palpebral fissures, short nose with broad tip, head appearing too large for the body, frontal hair upsweep, and bulging digit pads anddelatyed gross motor skills. Some patients have autistic features and/or behavioral problems. Congenital malformations may be associated. All reported cases have occurred de novo (without any cases in the family). It is caused by alterations (mutations) in the caused by heterozygous mutation in the FOXP1 gene.


name: autosomal dominant nocturnal frontal lobe epilepsy 5

description: Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the KCNT1 gene.


nonanaplastic kidney Wilms tumor

description: Wilms tumor of the kidney characterized by the absence of nuclear anaplasia.


syringomyelia, rabbit

description: Syringomyelia that occurs in rabbit.


Gardner syndrome

description: Gardner syndrome is a severe form of familial adenomatous polyposis characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors.


name: intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

description: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).


spinal muscular atrophy, domestic cat

description: Spinal muscular atrophy that occurs in domestic cat.


lymphomatoid granulomatosis

description: Lymphomatoid granulomatosis (LYG) is a very rare Epstein-Barr virus (EBV)-driven lymphoproliferative disease most commonly occurring in adults (in the fourth to sixth decade of life) and commonly affecting the lungs (with presentations varying from small bilateral pulmonary nodules to large necrotic and sometimes cavitating lesions), skin, central nervous system, and kidneys, but only very rarely affecting the lymph nodes and spleen. The symptoms associated with LYG depend on the site of disease involvement but mainly include cough, dyspnea or chest pain (in those with pulmonary involvement) and constitutional symptoms such as weight loss and fever.


BEST1-related dominant retinopathy

description: Any retinopathy caused by a heterozygous variant in the BEST1 gene.


urolithiasis, horse

description: Urolithiasis that occurs in horse.


parietal foramina 2

description: Any parietal foramina in which the cause of the disease is a mutation in the ALX4 gene.


pulmonary agenesis, horse

description: Pulmonary agenesis that occurs in horse.


allergic contact dermatitis

description: An inflammatory skin condition caused by an immune response to direct contact between the skin and an allergen. It consists of a delayed type of allergic reaction at the affected site with resulting red, swollen, and blistered skin that may itch or leak.


priapism, non-human animal

description: Priapism that occurs in non-human animals.


name: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius

description: A form of L1 syndrome caused by changes in the L1CAM gene characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis.


name: KLHL7-related cold-induced sweating-like syndrome


Kunjin virus infectous disease

description: A West Nile encephalitis that results in infection located in brain, has material basis in Kunjin virus, a subtype of West Nile Virus, which is transmitted by Culex annulirostris mosquito bite. The infection has symptom fever, has symptom rigor, has symptom headache, has symptom confusion, and has symptom lethargy.


description: Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal.


name: streptococcus pneumoniae-associated hemolytic uremic syndrome


ectasia of the left appendage

description: Ectasia of the left atrial appendage is a rare cardiac malformation characterized by the enlargement of the left auricle without any other associated cardiac lesions. It can be asymptomatic (discovered fortuitously during routine chest imaging as an unusual cardiac shadow) or present clinically with supraventricular tachyarrhythmia, paroxysmal tachycardia, embolic events, respiratory distress, chest pain, angina pectoris or heart failure.


Adams-Oliver syndrome

description: Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.


acquired aplastic anemia

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


name: HTRA1-related autosomal dominant cerebral small vessel disease


ELOVL4-related maculopathy

description: Any maculopathy caused by a variant in the ELOVL4 gene.


autoimmune disorder of blood

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


name: hypereosinophilic syndrome, non-human animal

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


Fuhrmann syndrome

description: Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly.


patent ductus venosus, dog

description: Patent ductus venosus that occurs in dog.


inherited pseudoxanthoma elasticum

description: An inheritable form of pseudoxanthoma elasticum (PXE), that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs (claudication); or bleeding in the gastrointestinal tract, particularly the stomach. A clinical diagnosis of PXE can be made when an individual is found to have both the characteristic eye findings and yellow bumps on the skin. ABCC6 is the only gene known to be associated with this condition. Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders, and by having regular physical examinationswith their primary physician.


name: constitutional megaloblastic anemia with severe neurologic disease


name: partial deletion of the long arm of chromosome 12


plantar fasciitis

description: Inflammation of the thick tissue on the bottom of the foot (plantar fascia) causing heel pain. The plantar fascia (also called plantar aponeurosis) are bands of fibrous tissue extending from the calcaneal tuberosity to the toes. The etiology of plantar fasciitis remains controversial but is likely to involve a biomechanical imbalance. Though often presenting along with heel spur, they do not appear to be causally related.


mechanical ectropion

description: An ectropion with a mechanical etiology.


name: hypotrichosis-intellectual disability, Lopes type

description: A syndrome characterized by hypotrichosis, syndactyly, intellectual deficit and early eruption of teeth. It has been described in two patients. The mode of transmission appears to be autosomal recessive.


name: undifferentiated high grade pleomorphic sarcoma of bone

description: A rare, high-grade pleomorphic malignant neoplasm arising from the bone. It usually presents with pain which may or may not be associated with swelling in the affected area. It is characterized by the presence of spindle-shaped cells, polygonal or epithelioid cells, multinucleated giant cells, and inflammatory cells. The neoplastic cells exhibit nuclear pleomorphism and high mitotic activity. It metastasizes frequently, most often in the lungs.


name: hennekam lymphangiectasia-lymphedema syndrome 3


paroxysmal nocturnal hemoglobinuria 2

description: Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGT gene.


retinitis pigmentosa 35

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the SEMA4A gene.


name: brachydactyly, type E, with atrial septal defect, type 2


mast cell leukemia

description: Mast cell leukemia is a malignant form of systemic mastocytosis (SM) characterized, most of the time, by the presence of circulating mast cells.


name: seizures, benign familial neonatal, autosomal recessive


name: arthrogryposis multiplex congenita 3, myogenic type


name: inborn disorder of the metabolism of sulfur-containing amino acids and hydrogen sulfide

description: A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of sulfur-containing amino acids and/or hydrogen sulfide.


name: peroxisome biogenesis disorder due to PEX6 defect

description: Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX6 gene.


Alexander disease, non-human animal

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


name: radioulnar synostosis with amegakaryocytic thrombocytopenia 2

description: Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the MECOM gene.


name: diffuse palmoplantar keratoderma with painful fissures


dendritic cell deficiency

description: A primary immunodeficiency disease characterized by impaired function or reduced numbers of dendritic cells.


ABetaL34V amyloidosis

description: Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline.


foveal hypoplasia

description: Underdevelopment of the fovea centralis.


name: progressive dementia with neuroserpin inclusion bodies


spinocerebellar ataxia type 2

description: A subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.


Bardet-Biedl syndrome 17

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the LZTFL1 gene.


description: Craniosynostosis-fibular aplasia is an extremely rare genetic disease, reported in only 2 brothers to date, characterized by the combination of craniosynostosis (involving both coronal sutures), congenital absence of the fibula, cryptorchidism, and bilateral simian creases. Intelligence is normal and an autosomal recessive mode of inheritance has been proposed. There have been no further reports in the literature since 1972.


intellectual disability, X-linked 21

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the IL1RAPL1 gene.


name: autosomal recessive spastic paraplegia type 67

description: Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities.


name: omphalocele syndrome, Shprintzen-Goldberg type

description: Shprintzen-Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities.