distal trisomy 1p36

description: Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (incl. slopping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported.


congenital renal artery stenosis

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

description: A narrowing of renal arteries that is present since birth.


name: non-acquired combined pituitary hormone deficiency

description: Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis.


age related macular degeneration 11

description: Any age-related macular degeneration in which the cause of the disease is a mutation in the CST3 gene.


name: proximal myopathy with focal depletion of mitochondria


lathyrism

description: A paralytic condition of the legs caused by ingestion of lathyrogens, especially beta-aminopropionitrile or beta-N-oxalyl amino-L-alanine, which are found in the seeds of plants of the genus lathyrus.


citrullinemia, non-human animal

description: Citrullinemia that occurs in non-human animals.


vitamin D-dependent rickets, type 2

description: Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia.


name: ectodermal dysplasia-syndactyly syndrome 1

description: Any ectodermal dysplasia-syndactyly syndrome in which the cause of the disease is a mutation in the NECTIN4 gene.


central core myopathy

description: An autosomal dominant congenital disorder affecting the skeletal muscles. Microscopically, it is characterized by disorganized areas, which are called cores, seen usually in the center of the muscle fibers. Clinically it presents as mild to severe muscle weakness. It may be associated with skeletal abnormalities including scoliosis, joint deformities, and hip dislocation.


chlamydia infectious disease

description: Infections with bacteria of the genus CHLAMYDIA.


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


description: T-cell immunodeficiency with epidermodysplasia verruciformis is a rare primary immunodeficiency characterized by increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype.


name: acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome

description: This syndrome is characterized by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy.


paratenonitis with tendinosis

description: Paratenonitis associated with intratendinous degeneration.


name: trimethylaminuria (fishy taint), Japanese quail

description: Trimethylaminuria (fishy taint) that occurs in Japanese quail.


distal arthrogryposis type 5D

description: Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature.


human African trypanosomiasis

description: A parasitic disorder caused by protozoa of the Trypanosoma brucei species. It is transmitted by flies and is endemic in various regions of Sub-Saharan Africa. Signs and symptoms include fever, joint pain, headache, and significant swelling of the lymph nodes. If left untreated, the parasitic infection causes anemia, heart, kidney, and endocrine failure, and neurologic damage. Subsequently patients develop confusion, disruption of the sleep cycle, and mental deterioration. The infection may lead to coma and death.


neuropathy with hearing impairment

description: This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy.


posterior mediastinum cancer

description: A malignant neoplasm involving the posterior mediastinum.


name: autosomal recessive nonsyndromic hearing loss 86

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene.


localized Castleman disease

description: Localized Castleman disease (LCD) is the most common form of Castleman disease (CD) and it is usually asymptomatic or it may present with enlarged lymph nodes. LCD may be cured by surgical resection.


BRCA2-related cancer predisposition

description: Hereditary cancer predisposition due to variation(s) in the BRCA2 gene. Germline pathogenic or likely pathogenic variants in the BRCA2 gene confer an autosomal dominant predisposition to hereditary breast and ovarian cancer. Tumor formation at other sites, including pancreatic and prostate cancer, have been described.


hypocalcemic rickets

description: Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR).


hydranencephaly, sheep

description: Hydranencephaly that occurs in sheep.


name: developmental and epileptic encephalopathy, 56


mental disorder

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


intermediate cell type uveal melanoma

description: Uveal melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells.


immune system organ benign neoplasm

description: A benign neoplasm that involves the immune organ.


spinal stenosis

description: Narrowing of the spinal canal.


autosomal recessive ocular albinism

description: Autosomal recessive form of ocular albinism (disease).


name: peroxisome biogenesis disorder 12A (Zellweger)


Astroviridae infectious disease

description: Infections with astrovirus, causing gastroenteritis in human infants, calves, lambs, and piglets.


post-viral disorder

description: A post-infectious disorder that follows viral infection but is distinct from the viral infection itself and its usual manifestations.


name: mandibulofacial dysostosis syndrome, Bauru type


sarcoma with BCOR genetic alterations

description: A small cell sarcoma that is characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm and the presence of BCOR genetic alterations.


name: protein-losing enteropathy, non-human animal

description: Protein-losing enteropathy that occurs in non-human animals.


description: Spinocerebellar ataxia-dysmorphism is marked by characteristic facies associated with dysarthria, delayed psychomotor development, ataxia, scoliosis and foot deformities. Three cases have been described and transmission appears to be autosomal recessive.


Bartter syndrome type 4

description: A form of Bartter syndrome characterized by maternal polyhydramnios, premature delivery, salt loss, polyuria and sensorineural deafness, associated with hypokalemic and hypochloremic metabolic alkalosis, increased levels of plasma renin and aldosterone, and low to normal blood pressure. Urinary calcium excretion rates are variable, and nephrocalcinosis is typically absent.


microphthalmia, pig

description: Microphthalmia that occurs in pig.


Zimmermann-Laband syndrome

description: Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.


name: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome

description: A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has material basis in mutation in the CLIC2 gene on chromosome Xq28.


name: duodenal ulcer due to antral G-cell hyperfunction


tetralogy of fallot, snow leopard

description: Tetralogy of fallot that occurs in snow leopard.


amelogenesis imperfecta type 1B

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


Peyronie disease

description: A condition characterized by hardening of the penis due to the formation of fibrous plaques on the dorsolateral aspect of the penis, usually involving the membrane (tunica albuginea) surrounding the erectile tissue (corpus cavernosum penis). This may eventually cause a painful deformity of the shaft or constriction of the urethra, or both.


hypothalamic neoplasm

description: A primary or metastatic neoplasm that affects the hypothalamus.


acrokeratosis verruciformis

description: A rare genetic skin keratinization disorder with an autosomal dominant mode of inheritance. It is characterized by numerous flesh-colored warty papules on the back of the hands, medial aspect of the feet, knees, and elbows.


name: multiple benign circumferential skin creases on limbs 1


name: cutis gyratum acanthosis nigricans craniosynostosis


name: disorder of carnitine cycle and carnitine transport


migraine, familial hemiplegic, 3

description: Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the SCN1A gene.


Charcot-Marie-Tooth disease

description: An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs.


name: partial deletion of the long arm of chromosome 20


name: megalencephalic leukoencephalopathy with subcortical cysts 3


impetigo herpetiformis

description: An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy.


name: leukemia, acute myelocytic, with polyposis coli and colon cancer


name: familial idiopathic steroid-resistant nephrotic syndrome with minimal changes


1p21.3 microdeletion syndrome

description: 1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder.


ALS2-related motor neuron disease

description: Any motor neuron disease in which the cause of the disease is a mutation in the ALS2 gene.


name: congenital muscular dystrophy with intellectual disability and severe epilepsy


familial hypobetalipoproteinemia 2

description: Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the ANGPTL3 gene.


maternally-inherited spastic paraplegia

description: A rare, genetic, complex hereditary spastic paraplegia disorder characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination.


incontinentia pigmenti

description: Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).


name: inflammatory linear verrucous epidermal nevus


name: brachydactyly, intraventricular septal defect, and deafness


name: intellectual disability-hypotonia-skin hyperpigmentation syndrome


fibular dimelia-diplopodia syndrome

description: Fibular dimelia-diplopodia syndrome is a rare developmental anomaly.


name: spastic paraplegia 18a, autosomal dominant


name: X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome


name: spinocerebellar ataxia, autosomal recessive 29


name: congenital hypoplasia of the mitral valve annulus

description: Hypoplasia of the mitral valve annulus is a rare, congenital, mitral valve malformation characterized by hypoplastic annulus which usually appears within a complete mitral valve hypoplasia, causing mitral valve stenosis. Association with other cardiac malformation is common, including coarctation of the aorta, aortic valve stenosis, Shone complex and hypoplastic left heart syndrome.


name: autoimmune thrombocytopenic purpura, pig

description: Autoimmune thrombocytopenic purpura that occurs in pig.


patent ductus arteriosus, domestic cat

description: Patent ductus arteriosus that occurs in domestic cat.


name: microcephaly, growth retardation, cataract, hearing loss, and unusual appearance


multiple epiphyseal dysplasia type 4

description: Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.


name: dwarfism with stiff joints and ocular abnormalities


cornea cancer

description: A malignant neoplasm involving the cornea.


autosomal dominant keratitis

description: Hereditary keratitis is characterized by opacification and vascularisation of the cornea, often associated with macula hypoplasia.


description: An inflammatory and toxic neuropathy that is characaterized by a collection of neuropsychological symptoms associated with repeated organophosphate pesticide exposure as well as nerve agent exposure. Symptoms can appear weeks after exposure and include muscle weakness, anxiety, depression, psychosis as well as cognitive and memory deficits.


nephrogenic systemic fibrosis

description: Nephrogenic systemic fibrosis (NSF) is a rare systemic fibrosing condition observed in renally impaired patients and characterized by a hardening and thickening of the skin with fibrotic plaques or papules, pruritus, joint pain and stiffness, muscle weakness, limitation of range of motion, and yellowed eyes. It is generally associated with administration of gadolinium-based magnetic resonance imaging contrast agents (GBCA) in patients with kidney disease.


postorgasmic illness syndrome

description: A rare condition in which a man develops flu-like symptoms after ejaculation (when semen is released from the penis). Specific symptoms can include extreme fatigue, weakness, feverishness or sweating, mood changes or irritability, memory or concentration problems, and/or a stuffy nose or itching eyes. Symptoms may occur within seconds, minutes, or a few hours after ejaculation. Most symptoms last for 2 to 7 days and go away on their own. The underlying cause of POIS is poorly understood. Some scientists believe it may be due to a semen allergy that causes an immediate hypersensitivity reaction. There is no standard treatment for POIS, but some men have been treated with SSRIs, antihistamines, and/or benzodiazepines. Hyposensitization therapy (decreasing the immune response by exposure to semen) reportedly improved symptoms in two men with POIS.


thyroid gland angiosarcoma

description: A usually aggressive malignant vascular tumor primarily involving the thyroid gland. It is often associated with longstanding nodular goiter.


pseudopelade of Brocq

description: Pseudo-pelade of Brocq is a rare hair abnormality characterized by onset in adulthood of soft, irregular, flesh-toned patches of alopecia primarily in the parietal and vertex portions of the scalp, without follicular hyperkeratosis or perifollicular inflammation.


amoebiasis due to free-living amoebae

description: Free-living amebae belonging to the genera Acanthamoeba, Balamuthia, Naegleria and Sappinia are important causes of disease in humans and animals. Naegleria fowleri produces an acute, and usually lethal, central nervous system (CNS) disease called primary amebic meningoencephalitis (PAM). Acanthamoeba spp. and Balamuthia mandrillaris are opportunistic free-living amebae capable of causing granulomatous amebic encephalitis (GAE) in individuals with compromised immune systems. Sappinia pedata has been implicated in a case of amebic encephalitis. Naegleria fowleri and Acanthamoeba spp., are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units.


Hennekam syndrome

description: Hennekam syndrome is characterized by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism.


autoimmune limbic encephalitis

description: A rare autoimmune encephalitis involving the mesial temporal lobes and clinically characterized by subacute onset (i. e. rapid progression of less than three months) of short-term memory deficits, seizures or psychiatric symptoms, such as behavioral changes, anxiety, depression, and psychosis. Further diagnostic criteria are bilateral abnormalities restricted to the mesial temporal lobes in brain MRI, cerebrospinal fluid pleocytosis and/or epileptic or slow-wave activity involving the temporal lobes in EEG, and reasonable exclusion of alternative causes. Paraneoplastic or non-paraneoplastic antibodies against neuronal antigens may be found in serum and/or cerebrospinal fluid.


syphilis

description: A contagious bacterial infection caused by the spirochete Treponema pallidum. It is a sexually transmitted disorder, although it can also be transmitted from the mother to the fetus in utero. Typically, it is initially manifested with a single sore which heals without treatment. If the infection is left untreated, the initial stage is followed by skin rash and mucous membrane lesions. A late stage follows, which is characterized by damage of the internal organs, including the nervous system.


sheep disease

description: Diseases of domestic and mountain sheep of the genus Ovis.


name: congenital patella dislocation, bilateral


name: myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2

description: A group of rare myeloid and lymphoid neoplasms characterized by rearrangement of the PDGFRA, PDGFRB, FGFR1, or JAK2 genes, resulting in the formation of tyrosine kinase fusion transcripts. Eosinophilia is a characteristic finding but it is not always present.


name: Leydig cell hypoplasia due to partial LH resistance


name: generalized basaloid follicular hamartoma syndrome

description: Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported.


name: rippling muscle disease with myasthenia gravis


pityriasis rosea, non-human animal

description: Pityriasis rosea that occurs in non-human animals.


hereditary angioedema type 3

description: Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.


name: alpha-N-acetylgalactosaminidase deficiency type 3

description: Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency with developmental, neurologic and psychiatric manifestations presenting at an intermediate age.


cataract 40

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


retinitis pigmentosa 10

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPDH1 gene.


name: nephrogenic diabetes insipidus-intracranial calcification syndrome

description: This syndrome is characterized by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism.


name: cervical hypertrichosis with underlying kyphoscoliosis


description: A non-severe combined immunodeficiency disorder manifesting with recurrent respiratory infections, candidiasis, diarrhea, and failure to thrive. Patients show a clear predisposition to herpes viral infections, and features of immune dysregulation, including hypereosinophilia, vitiligo, and alopecia areata. Other features include lymphadenopathy and hepatosplenomegaly. CD3+ T-cells express TCR- gamma|delta, but little or no TCR-alpha|beta.


name: shoulder and girdle defects-familial intellectual disability syndrome


name: congenital myopathy 2b, severe infantile, autosomal recessive


ornithosis

description: Disease caused by the Chlamydophila psittaci bacteria, usually transmitted from birds to humans.


keratoconjunctivitis, non-human animal

description: Keratoconjunctivitis that occurs in non-human animals.


Bardet-Biedl syndrome 13

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the MKS1 gene.


name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2

description: Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RNASEH1 gene.


name: peroxisome biogenesis disorder 11A (Zellweger)


intellectual disability, X-linked 102

description: An inherited condition caused by mutation(s) in the DDX3X gene, encoding ATP-dependent RNA helicase DDX3X. It is characterized by severe intellectual disability and variable neurologic features.


description: Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare, multiple congenital anomalies syndrome characterized by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalized contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (i.e. sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970.


brachydactylous dwarfism, Mseleni type

description: Mseleni joint disease (MJD) is a rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short staure and brachydactyly have been reported in a few patients with MJD.


cleft palate, pig

description: Cleft palate that occurs in pig.


name: multiple mitochondrial dysfunctions syndrome 7


mild hemophilia A

description: Mild hemophilia A is a form of hemophilia A characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.


hereditary peripheral neuropathy

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


name: cortical blindness-intellectual disability-polydactyly syndrome

description: This syndrome is characterized by cortical blindness, intellectual deficit, and polydactyly.


name: chromosomal instability with tissue-specific radiosensitivity


substance dependence

description: The psychological or physiological need to take a substance in order to experience its effects or to avoid the effects of its absence.


ciliary body epithelioid cell melanoma

description: A epithelioid cell melanoma that involves the ciliary body.


name: metaphyseal chondrodysplasia, Kaitila type

description: Metaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982.


denture stomatitis

description: Inflammation of the mouth due to denture irritation.


carcinosarcoma of the corpus uteri

description: An aggressive malignant mixed epithelial and mesenchymal tumor that arises from the uterine corpus. It usually affects elderly postmenopausal women and presents with vaginal bleeding. It is characterized by the presence of a malignant epithelial component that is usually glandular and a sarcomatous component.


urolithiasis, sheep

description: Urolithiasis that occurs in sheep.


chronic maxillary sinusitis

description: Inflammation of the maxillary sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties.


name: intellectual disability, autosomal dominant 13

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DYNC1H1 gene.


retinitis pigmentosa-deafness syndrome

description: An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has material basis in mutation in the MTTS2 gene in the mitochondrial genome.


name: IFAP syndrome 1, with or without BRESHECK syndrome

description: An X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome.


name: laryngeal abductor paralysis-intellectual disability syndrome

description: Laryngeal abductor paralysis-intellectual disability syndrome is characterized by congenital and permanent laryngeal abductor paralysis, associated, in the majority of cases, with intellectual deficit. It has been described in several families. X-linked inheritance is likely.


name: AA amyloidosis, white-tufted-ear marmoset

description: AA amyloidosis that occurs in white-tufted-ear marmoset.


cervical benign neoplasm

description: A non-metastasizing neoplasm that arises from the cervix. Representative examples include squamous papilloma, endocervical polyp, and rhabdomyoma.


disorder of lacrimal gland

description: A disease that involves the lacrimal gland.


Wilms tumor 6

description: Any Wilms tumor in which the cause of the disease is a mutation in the REST gene.


name: deafness-epiphyseal dysplasia-short stature syndrome

description: This syndrome is characterized by sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit).


ulnar nerve lesion

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


macular corneal dystrophy, dog

description: Macular corneal dystrophy that occurs in dog.


name: antenatal multiminicore disease with arthrogryposis multiplex congenita


ectopic aldosterone-producing tumor

description: Ectopic aldosterone-producing tumor is an extremely rare aldosterone-producing neoplasm composed of aberrant adrenocortical tissue located outside the adrenal glands (e.g. in retroperitoneum, perirenal or periaortic fatty tissue, thorax, spinal canal, testes, ovaries) typically characterized by symptoms related to increased aldosterone levels (such as sustained, treatment-resistant hypertension and hypokalemia) or symptoms caused by local tumor enlargement.


T2-high asthma

description: A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of early-onset allergic asthma, late-onset eosinophilic asthma, and aspirin-exacerbated respiratory disease.


monophasic synovial sarcoma

description: A synovial sarcoma characterized by the presence of an epithelial or a spindle cell component only.


rhabdomyosarcoma of the cervix uteri

description: A rare malignant neoplasm with skeletal muscle differentiation arising from the cervix.


latent tuberculosis infection

description: Mycobacterium tuberculosis infection that does not induce infectious expression of the disease in the affected person, although it can cause continuous immune response generated towards TB antigens; person having LTBI are asymptomatic and acting as a reservoir of active tuberculosis tuberculosis cases and Mycobacterium tuberculosis and run a 5-10% risk of reactivating tuberculosis throughout their lives.


familial monosomy 7 syndrome

description: A rare neoplastic disease characterized by infantile to childhood onset of evidence of bone marrow insufficiency/failure associated with increased risk for myelodysplastic syndrome or acute myeloid leukemia. Most patients present with petechiae, easy bruising, or anemia. Rapid progression is common, and prognosis is generally poor.


polydactyly, cattle

description: Polydactyly that occurs in cattle.


vascular hemostatic disease

description: Pathological processes involving the integrity of blood circulation. Hemostasis depends on the integrity of blood vessels, blood fluidity, and blood coagulation. Majority of the hemostatic disorders are caused by disruption of the normal interaction between the vascular endothelium, the plasma proteins (including blood coagulation factors), and platelets.


alpha-gal syndrome

description: An IgE antibody response to a mammalian oligosaccharide epitope, galactose-alpha-1,3-galactose (alpha-gal).


distal chromosome 18q deletion syndrome

description: Distal chromosome 18q deletion syndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material at the end of the long arm (q) of chromosome 18.


description: A familial epilepsy syndrome in which family members display a seizure disorder from the generalized epilepsy with febrile seizures plus spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS).


name: familial isolated hypoparathyroidism due to impaired PTH secretion


multiple epiphyseal dysplasia type 5

description: Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission.


audiogenic seizures

description: Audiogenic seizures is a rare neurologic disease characterized by seizures that are triggered by acoustic stimulation, which can be simple (as in startle epilepsy) or complex (e.g. musicogenic seizures, seizures triggered by the voice).


name: generalized resistance to thyroid hormone

description: A thyroid hormone resistance syndrome characterized by resistance in the pituitary gland and in most or all of the peripheral tissues.


name: acute myeloid leukemia, PTPN11 gene mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly PTPN11 gene mutation. (Mutation of the protein tyrosine phosphatase, non-receptor type 11 gene. It is seen in cases of juvenile myelomonocytic leukemia.)


cardiac glycoside intoxication

description: A poisoning that is caused by exposure to cardiac glycoside.


name: autosomal dominant nonsyndromic hearing loss 5

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


acute zonal occult outer retinopathy

description: Acute zonal occult outer retinopathy (AZOOR) is a rare condition that affects the eyes. People with this condition may experience a sudden onset of photopsia (the presence of perceived flashes of light) and an area of partial vision loss (a blindspot). Other symptoms may include 'whitening of vision' or blurred vision. Although anyone can be affected, the condition is most commonly diagnosed in young women (average age 36.7 years). The underlying cause of AZOOR is currently unknown; however, some researchers have proposed that infectious agents (such as viruses) or autoimmunity may play a role in the development of the condition. No treatment has been proven to improve the visual outcome of AZOOR; however, systemic corticosteroids are the most commonly used therapy.


pure mitochondrial myopathy

description: Pure mitochondrial myopathy is a rare mitochondrial disease characterized by exclusive skeletal muscle involvement, without clinical evidence of other organ involvement, manifesting with progressive limb weakness, proximal limb muscle atrophy, and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia, and diminished deep tendon reflexes.


name: lymphoma, Hodgkin, X-linked pseudoautosomal


myopathy, centronuclear, 5

description: Any autosomal recessive centronuclear myopathy in which the cause of the disease is a mutation in the SPEG gene.


infective arthritis

description: The inflammation of one or more joints caused by any infectious pathogen within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint.


name: developmental delay with short stature, dysmorphic facial features, and sparse hair 1

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 DPH1 gene.


neurocristopathy

description: That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage.


name: hereditary sensory and autonomic neuropathy with spastic paraplegia

description: This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia.


short QT syndrome type 1

description: Any short QT syndrome in which the cause of the disease is a mutation in the KCNH2 gene.


polyp of maxillary sinus

description: A polyp that involves the maxillary sinus.


name: contractures - webbed neck - micrognathia - hypoplastic nipples syndrome


name: secondary hyperparathyroidism of renal origin


Fusobacterium infectious disease

description: Infections with bacteria of the genus fusobacterium.


name: immune dysregulation, autoimmunity, and autoinflammation


3M syndrome 3

description: Any 3-M syndrome in which the cause of the disease is a mutation in the CCDC8 gene.


spinocerebellar ataxia type 37

description: Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by a cerebellar syndrome along with altered vertical eye movements.


name: adducted thumbs-arthrogryposis syndrome, Christian type

description: A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism ("myopathic" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983.


name: congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome

description: An autosomal recessive condition caused by mutation(s) in the ASNS gene, encoding asparagine synthetase. It is characterized by microcephaly, severely delayed psychomotor development, progressive encephalopathy, seizures, and cortical atrophy.


intellectual disability, X-linked 97

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF711 gene.


name: mitochondrial complex 1 deficiency, nuclear type 15


phaeohyphomycosis

description: An opportunistic fungal infection caused by any of a variety of normally saprophytic fungi with hyaline hyphal elements. For example, Fusarium spp. infect neutropenic patients to cause pneumonia, fungemia, and disseminated infection with cutaneous lesions.


amelocerebrohypohidrotic syndrome

description: Kohlschütter-TC6nz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.


intellectual disability, X-linked 9

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FTSJ1 gene.


Zika virus infectious disease

description: Mosquito-born virus disease characterized by a clinical course that may be asymptomatic or mild with fever, conjunctivitis, muscle and joint pain, headache, exanthema, but may also be associated with severe neurological (meningitis, meningoencephalitis and myelitis) and auto-immune (Guillain-Barre syndrome) complications, as well as a potential increase of birth defects (microcephaly) if the infection occurs during pregnancy.


name: neurodevelopmental disorder with involuntary movements


fire ant poisoning

description: A poisoning that is caused by exposure to a fire ant bite or sting. Fire ants tend to be an aggressive insect that will sting causing very painful reactions. There are two types of fire ants which belong to the Solenopsis species.


candidal paronychia

description: A candidiasis that results in fungal infection of the outer-most layer located in nail, has material basis in Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury.


name: spondyloepimetaphyseal dysplasia, Maroteaux type

description: A very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.


congenital factor X deficiency

description: Congenital factor X deficiency is an inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms.


name: serous or mucinous cystadenoma of childhood

description: Serous or mucinous cystadenoma of childhood is a benign epithelial ovarian tumor characterized by a usually unilateral, cystic, unilocular or multilocular lesion with a thin wall or septa and no intracystic solid portion on imaging. It often presents with abdominal pain or an asymptomatic abdominal mass and can be associated with ovarian torsion or malignant transformation.


name: chronic mucocutaneous candidiasis due to monocyte chemotactic disorder


Proteus infectious disease

description: Infections with bacteria of the genus proteus.


tubulinopathy

description: A nervous system disorder characterized by complex cortical malformations including in most cases dysmorphic basal ganglia and/or corpus callosum in which the cause of the disease is a variation in a tubulin gene.


name: combined immunodeficiency due to ORAI1 deficiency

description: A form of combined immunodeficiency due to Calcium release activated Ca2+ (CRAC) channel dysfunction characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.


familial goiter, water buffalo

description: Familial goiter that occurs in water buffalo.


d-2-hydroxyglutaric aciduria 2

description: Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the IDH2 gene.


epididymis disease

description: A male reproductive system disease that is located in the epididymis.


Boudhina Yedes Khiari syndrome

description: Familial syndrome combining short stature, microcephaly, mental deficiency, seizures, hearing loss, and skin lesions


name: spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1

description: Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia.


chaotic conus spinal cord lipoma

description: A rare dysraphic spinal cord lipoma characterized by the lipomatous mass extending ventrally to the dorsal root entry zone, indicating a more severe malformation of the spinal cord. The diagnosis can be suggested on imaging but usually confirmed during surgery.


klumpke's paralysis

description: Klumpke paralysis is a type of brachial palsy in newborns. Signs and symptoms include weakness and loss of movement of the arm and hand. Some babies experience drooping of the eyelid on the opposite side of the face as well. This symptom may also be referred to as Horner syndrome. Klumpke paralysis is caused by an injury to the nerves of the brachial plexus which may result from a difficult delivery. This injury can cause a stretching (neuropraxia), tearing (called avulsion when the tear is at the spine, and rupture when it is not), or scarring (neuroma) of the brachial plexus nerves. Most infants with Klumpke paralysis have the more mild form of injury (neuropraxia) and often recover within 6 months.


name: SOX3-related X-linked pituitary hormone deficiency with or without intellectual developmental disorder

description: An X-linked syndromic intellectual disability caused by alterations to the SOX3 gene which leads to hypopituitarism with variable deficiency of hormones in the anterior lobe of the pituitary gland. In some cases there is also intellectual disability.


name: ulnar agenesis and endocardial fibroelastosis


primary ciliary dyskinesia 18

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF5 gene.


hypertrophic cardiomyopathy, dog

description: Hypertrophic cardiomyopathy that occurs in dog.


inherited acute myeloid leukemia

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


name: combined oxidative phosphorylation deficiency 59


name: porcine reproductive and respiratory syndrome

description: A syndrome characterized by outbreaks of late term abortions, high numbers of stillbirths and mummified or weak newborn piglets, and respiratory disease in young unweaned and weaned pigs. It is caused by porcine respiratory and reproductive syndrome virus. (Radostits et al., Veterinary Medicine, 8th ed, p1048)


Johanson-Blizzard syndrome

description: A multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.


autoimmune neuropathy

description: An autoimmune form of peripheral neuropathy.


proliferative fasciitis

description: A rapidly growing, poorly circumscribed, mass-forming proliferation that arises from the subcutaneous tissues. It is characterized by the presence of spindle-shaped fibroblasts, round ganglion-like cells, myxoid to collagenous stroma formation, and high mitotic activity. It recurs only rarely following local excision and does not metastasize.


renal-hepatic-pancreatic dysplasia 2

description: Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NEK8 gene.


name: neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia


name: hemolytic disease of the newborn with Kell alloimmunization


name: adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

description: Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases.


urolithiasis, Rhesus monkey

description: Urolithiasis that occurs in Rhesus monkey.


PDE6A-related retinopathy

description: Any retinopathy caused by variants in the PDE6A gene.


eccrine sweat gland neoplasm

description: A neoplasm involving a eccrine sweat gland.


Omsk hemorrhagic fever

description: Omsk hemorrhagic fever (OHF), caused by Omsk hemorrhagic fever virus (OHFV), is a zoonotic disease characterized by fever, nausea, myalgia and moderately severe hemorrhagic manifestations as well as in some cases meningitis, pneumonia and nephrosis.


name: microcephaly, short stature, and impaired glucose metabolism 2

description: Any microcephaly, short stature, and impaired glucose metabolism in which the cause of the disease is a mutation in the PPP1R15B gene.


autosomal dominant distal myopathy

description: Autosomal dominant form of distal myopathy.


helminthiasis, animal

description: Infestation of animals with parasitic worms of the helminth class. The infestation may be experimental or veterinary.


PHGDH deficiency

description: 3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form


arthrogryposis IUGR thoracic dystrophy

description: A syndrome characterized by severe intrauterine growth retardation, psychomotor delay and recurrent infections, craniofacial dysostosis, a progeroid appearance, arthrogryposis and camptodactylia.


fibular hemimelia

description: Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone.


Erysipelothrix infectious disease

description: Infections with bacteria of the genus erysipelothrix.


nail anomaly

description: A epidermal appendage anomaly that involves the nail.


pyruvate carboxylase deficiency disease

description: Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients.


non-syndromic intellectual disability

description: An intellectual disability that is not part of a larger syndrome.


complement component C1s deficiency

description: A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis.


factor XIII deficiency

description: An acquired or inherited coagulation disorder due to reduced levels and activity of factor XIII.


congenital hypothyroidism, domestic cat

description: Congenital hypothyroidism that occurs in domestic cat.


pure hair and nail ectodermal dysplasia

description: Pure hair and nail ectodermal dysplasia is characterized by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant.


name: chronic rapidly progressive glomerulonephritis

description: Chronic form of rapidly progressive glomerulonephritis.


schizophrenia 7

description: A schizophrenia that has material basis in an autosomal dominant mutation of SCZD7 on chromosome 13q32.


polydactyly, domestic cat

description: Polydactyly that occurs in domestic cat.


canine Langerhans cell histiocytosis

description: Langerhans cell histiocytosis occurring in a dog.


vaccinia

description: The cutaneous and occasional systemic reactions associated with vaccination using smallpox (variola) vaccine.


name: acute myeloid leukemia with CEBPA somatic mutations

description: Acute myeloid leukemia with CEBPA somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly).


inhalational botulism

description: Inhalational botulism is a man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs).


name: megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability


Gerstmann-Straussler-Scheinker syndrome

description: A very rare and fatal disorder of spongiform encephalopathy usually caused by mutations of the prion protein (PRNP) gene. It is characterized by the accumulation of amyloid in the brain. Signs and symptoms include lack of motor coordination, unsteady gait, and difficulty walking. As the disease progresses, patients develop speech difficulties and dementia.


name: congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome


male reproductive system disorder

description: A disease involving the male reproductive system.


immunodeficiency 96

description: An autosomal recessive disorder characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood. Other infections, including gastrointestinal and urinary tract infections, may also occur. Laboratory studies show hypogammaglobulinemia, lymphopenia with increased gamma/delta T cells, and erythrocyte macrocytosis. The disorder results from defective cellular DNA repair.


name: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome

description: Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.


megacolon, pig

description: Megacolon that occurs in pig.


polyploidy

description: Chromosomal disorder in which the chromosomal constitution of a cell containing multiples of the normal number of chromosomes; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.


panner disease

description: Panner's disease is an osteochondrosis of the capitellum of the humerus, characterized by involvement of the dominant upper limb and onset before the age of 10 years. It results from lateral compression injuries of the elbow typically occurring in children practicing sports such as baseball and throw. It should be distinguished from osteochondritis dissecans of the capitellum, occurring later, in adolescents. Management is symptomatic and consists in reducing the activities of the affected elbow for a prolonged period of time. Prognosis is good.


hereditary recurrent myoglobinuria

description: An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers.


entropion, domestic cat

description: Entropion that occurs in domestic cat.


hyperparathyroidism, non-human animal

description: Hyperparathyroidism that occurs in non-human animals.


name: non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy


name: X-linked intellectual disability-psychosis-macroorchidism syndrome


lichen planus pemphigoides

description: Lichen planus (LP) pemphigoides is a rare cross-over syndrome between lichen planus and bullous pemphigoid.


HAND2 related congenital heart defect

description: A heart disease that is present at birth caused by a variation in th HAND2 gene. Representative examples include tetralogy of fallot and ventricular septal defect.


name: atresia of external auditory canal and conductive deafness


livedoid vasculopathy

description: Livedoid vasculopathy is a blood vessel disorder that causes painful ulcers and scarring (atrophie blanche) on the feet and lower legs. These symptoms can persist for months to years and the ulcers often recur.Livedoid vasculopathy lesions appear as painful red or purple marks and spots that may progress to small, tender, irregular ulcers. Symptoms tend to worsen in the winter and summer months, and affect women more often then men. Livedoid vasculopathy may occur alone or in combination with another condition, such as lupus or thrombophilia.


Stimmler syndrome

description: Stimmler syndrome is characterized by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood.


name: congenital anomaly of the great arteries


name: ankyloblepharon filiforme imperforate anus


name: syndromic X-linked intellectual disability Claes-Jensen type


name: hypogonadotropic hypogonadism 20 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF17 gene.


name: factor 5 and Factor VIII, combined deficiency of, 2

description: Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the MCFD2 gene.


large artery stroke

description: Stroke caused by the blockage of blood flow in one of the large arteries feeding the brain.


retinitis pigmentosa 26

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


name: erythrocyte galactose epimerase deficiency


bullous pemphigoid, dog

description: Bullous pemphigoid that occurs in dog.


name: alpha-N-acetylgalactosaminidase deficiency type 1

description: Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy.


Rickettsiosis

description: A group of infectious diseases that is caused by Rickettsia.


name: corpus callosum agenesis of blepharophimosis robin type


name: hypogonadotropic hypogonadism 4 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROK2 gene.


name: developmental and epileptic encephalopathy 104


Perrault syndrome 3

description: Any Perrault syndrome in which the cause of the disease is a mutation in the CLPP gene.


name: Charcot-Marie-Tooth disease dominant intermediate C

description: Autosomal dominant intermediate Charcot-Marie-Tooth disease type C is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibers, segmental remyelination, and no onion bulbs.


fibroblastic liposarcoma

description: A liposarcoma characterized by the presence of a fibroblastic component.


pharynx neoplasm

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


hereditary intrinsic factor deficiency

description: Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities.


name: neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia


name: oocyte/zygote/embryo maturation arrest 21


syndactyly, cattle

description: Syndactyly that occurs in cattle.


palpebral epidermal tumor

description: A neoplasm (disease) that involves the skin of eyelid.


description: A rare, genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy, and dental enamel anomalies. Variable features include failure to thrive, developmental delay, and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis.


tick infestation

description: Infestations with soft-bodied (Argasidae) or hard-bodied (Ixodidae) ticks.


name: hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome


name: progressive non-infectious anterior vertebral fusion

description: Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features.


name: patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome

description: Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant.


immunoglobulin heavy-and-light chain

description: An amyloidosis that is characterized by both Ig heavy chains and LC contribute to the amyloid fibrils.


name: Klippel-Feil syndrome 3, autosomal dominant

description: Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF3 gene.


thrombophlebitis migrans

description: A thrombophlebitis that is characterized by repeated occurrences of thrombophlebitis in different locations.


name: telangiectasia, hereditary hemorrhagic, type 1


name: acute subendocardial myocardial infarction

description: Acute form of subendocardial myocardial infarction.


name: malignant germ cell tumor of corpus uteri

description: A malignant germ cell tumor that involves the body of uterus.


name: severe early-onset axonal neuropathy due to MFN2 deficiency

description: A rare axonal hereditary motor and sensory neuropathy characterized by early onset (<10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop.


name: normophosphatemic familial tumoral calcinosis


cor biloculare

description: A congenital anatomic anomaly in which the heart has only two chambers.


thoracolaryngopelvic dysplasia

description: A short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis.


name: retinal degeneration, crab-eating macaque

description: Retinal degeneration that occurs in crab-eating macaque.


name: posterior polymorphous corneal dystrophy

description: Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision.


translocation Down syndrome

description: Down syndrome in which the extra (partial or total) copy of chromosome 21 genetic material is attached to another chromosome.


name: acute myeloid leukemia, t(16;21)(q24;q22)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(16;21)(q24;q22). (A cytogenetic abnormality that refers to the translocation of the long arm (q24) of chromosome 16 and the long arm (q22) of chromosome 22. It is associated with RUNX1/CBFA2T3 fusions, myelodysplastic syndromes and acute myeloid leukemia.)


name: carnitine palmitoyl transferase II deficiency, severe infantile form

description: The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease.


patent ductus venosus, non-human animal

description: Patent ductus venosus that occurs in non-human animals.


description: A group of disorders including Paget disease of bone (PBD), inclusion body myopathy (IBM), and less frequently frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Phenotypic presentation and severity are highly variable, and individuals within the same family may present with different associated conditions.


eye infectious disorder

description: An infectious process affecting any part of the eye. Causes include viruses and bacteria. Symptoms include itching and discomfort in the eye, watery eyes, eye pain and discharge, and blurring vision. Representative examples include pink eye, blepharitis, and trachoma.


GLUT1 deficiency syndrome

description: An epileptic encephalopathy resulting from impaired glucose transport into the brain.


name: acute disseminated encephalomyelitis with anti-MOG antibodies


name: neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis


name: neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities


Bardet-Biedl syndrome 1

description: A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13.


pneumococcal meningitis

description: An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with otitis media; mastoiditis; sinusitis; respiratory tract infections; sickle cell disease (anemia, sickle cell); skull fractures; and other disorders. Clinical manifestations include fever; headache; neck stiffness; and somnolence followed by seizures; focal neurologic deficits (notably deafness); and coma. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111)


hypertensive heart disease

description: Abnormal enlargement of the heart resulting from long-standing hypertension.


name: osteopetrosis with gingival hamartomas, non-human animal

description: Osteopetrosis with gingival hamartomas that occurs in non-human animals.


name: short-rib thoracic dysplasia 18 with polydactyly


name: median cleft of the upper lip and maxilla

description: Median cleft of the upper lip and maxilla is a rare, congenital, developmental defect during embryogenesis characterized by a midline vertical cleft through the upper lip and premaillary bone (can also involve the nasal septum and central nervous system). The phenotypic spectrum is highly variable (ranging from a simple vermillion notch to a wide complete cleft) and hypo/hypertelorism, telecanthus, monophthalmia, flat or cleft nose, wide columella, median alveolar cleft and cranial malformations may be associated.


name: myoglobinuria, acute recurrent, autosomal recessive


name: coronal synostosis, syndactyly and jejunal atresia


chronic gonorrhea of cervix

description: Chronic form of gonococcal cervicitis.


acute gonococcal cervicitis

description: Acute form of gonococcal cervicitis.


name: combined oxidative phosphorylation deficiency 36


name: chromosome 11p13 deletion syndrome, distal


spontaneous ocular nystagmus

description: Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)


name: microcephaly, short stature, and limb abnormalities


Majocchi granuloma

description: An inflammatory and granulomatous, dermatophytic infection that is classified into two forms, depending on the affected individual’s health situation and clinical picture. The first form is mainly observed in healthy individuals and is defined as a perifollicular, papular form induced by penetrating trauma that is mostly observed in the lower extremities. The second form is granulomatous, related to immunosuppression, seen in a nodular form, and usually appears on the upper extremities.


name: craniometaphyseal dysplasia, autosomal dominant


anemia due to enzyme disorder

description: Any form of anemia that results from the absence of, or the defective action of, any enzyme.


description: Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet).


mucolipidosis

description: A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations.


essential hypertension

description: Hypertension that presents without an identifiable cause.


description: Progressive multifocal leukoencephalopathy (PML) is a neurological disorder that damages the myelin that covers and protects nerves in the white matter of the brain. It is caused by the JC virus (JCV). By age 10, most people have been infected with this virus, but itrarelycauses symptoms unless the immune system becomes severely weakened.The disease occurs, rarely, in organ transplant patients; people undergoing chronic corticosteroid or immunosuppressive therapy; and individuals with cancer, such as Hodgkins disease, lymphoma, and sarcoidosis. PML is most common among individuals with acquired immune deficiency syndrome (AIDS).


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

description: Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset.


pityriasis rosea

description: A mild, self-limited skin disorder that is most commonly seen in children and young adults. It is characterized by an initial large round spot on the chest, abdomen, or back, often referred to as a herald patch, that is usually followed within a week by a distinctive pattern of similar but smaller papules on the torso, arms, and legs. There may also be itching, especially when overheated.


spinocerebellar ataxia type 20

description: Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar dysarthria as the initial typical manifestation.


name: steatocystoma multiplex-natal teeth syndrome

description: The syndrome steatocystoma multiplex and natal teeth is characterized by generalized multiple steatocystomas and natal teeth.


partial hydatidiform mole

description: Partial hydatiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of a normal ovocyte by two spermatozoa or one abnormal spermatozoon (allowing for some fetal development), and that manifests with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, hyperthyroidism and risk of spontaneous miscarriage.


name: hearing impairment and infertile male syndrome

description: A syndromic genetic deafness characterized by segregation of nonsyndromic hearing loss in females and hearing loss with infertility in males. Affected males have been reported to have low count to absent sperm, immobile sperm, and/or sperm with abnormal morphology.


name: olivopontocerebellar atrophy II, autosomal recessive


acrofrontofacionasal dysostosis

description: A congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.


hidrocystoma

description: A benign cystic proliferation of the sweat glands with apocrine or eccrine differentiation. It usually presents as a dome-shaped, cystic papular or nodular lesion usually in the face and neck. It is a unilocular or mutlilocular lesion lined by an inner and an outer layer of epithelium. Complete excision is usually curative.


description: X-linked intellectual disability, Pai type is characterized by the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been localized to the q28 region of the X chromosome.


Marfan syndrome, pig

description: Marfan syndrome that occurs in pig.


tuberous sclerosis 2

description: Tuberous sclerosis mapped to chromosome 16p13.3 (TSC2 gene).


tracheobronchitis

description: Inflammation of the tracheobronchial tree.


name: leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome


cataract 35

description: A cataract that has material basis in variation in the region 19q13.


spermatogenic failure 8

description: Any azoospermia in which the cause of the disease is a mutation in the NR5A1 gene.


nasolacrimal duct disorder

description: A disease or disorder that involves the nasolacrimal duct.


scabies

description: A contagious skin infection that is caused by the burrowing parasitic mite, Sarcoptes scabiei, and is characterized by intense itching and small, raised red spots in the area of the mite burrows.


cataract-deafness-hypogonadism syndrome

description: Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995.


name: autosomal dominant slowed nerve conduction velocity

description: Autosomal dominant slowed nerve conduction velocity is a hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene.


recombinant 8 syndrome

description: Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism.


polycystic kidney disease, sheep

description: Polycystic kidney disease that occurs in sheep.


name: developmental and epileptic encephalopathy 114


name: intellectual disability syndrome due to a DYRK1A point mutation


name: spondyloepiphyseal dysplasia, Stanescu type


name: facioscapulohumeral muscular dystrophy 4, digenic


name: heterotaxy, visceral, 9, autosomal, with male infertility


name: acromegaloid features, overgrowth, cleft palate, and hernia


autosomal dominant sensory ataxia 1

description: Any hereditary ataxia in which the cause of the disease is a mutation in the RNF170 gene.


2q31.1 microdeletion syndrome

description: 2q31.1 microdeletion syndrome is a well-defined and clinically recognizable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects.


autosomal dominant Robinow syndrome 2

description: Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the DVL1 gene.


name: hypertelorism-preauricular sinus-punctual pits-deafness syndrome


distal trisomy 6q

description: Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported.


radiculopathy

description: Disease involving a spinal nerve root (see spinal nerve roots) which may result from compression related to intervertebral disk displacement; spinal cord injuries; spinal diseases; and other conditions. Clinical manifestations include radicular pain, weakness, and sensory loss referable to structures innervated by the involved nerve root.


factor X deficiency, domestic cat

description: Factor X deficiency that occurs in domestic cat.


orofaciodigital syndrome

description: Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.


episodic pain syndrome, familial, 2

description: Any familial episodic pain syndrome in which the cause of the disease is a mutation in the SCN10A gene.


persistent truncus arteriosus

description: A rare congenital cardiovascular disorder characterized by the failure of the embryologic structure truncus arteriosus to divide into the aorta and pulmonary trunk. It results in the presence of a single vessel instead of two vessels leading out of the heart. Clinical signs and symptoms include cyanosis that is present at birth, poor growth, dyspnea, tachypnea, arrhythmia, cardiomegaly, and heart failure. If it is not surgically repaired, it leads to death.


short QT syndrome

description: A genetic disease of the electrical system of the heart that consists of a constellation of signs and symptoms, consisting of a short QT interval on an EKG (< 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. Short QT syndrome appears to be inherited in an autosomal dominant pattern, and a few affected families have been identified


non-Langerhans cell histiocytosis

description: Group of disorders which feature accumulations of active HISTIOCYTES and LYMPHOCYTES, but where the histiocytes are not LANGERHANS CELLS. The group includes HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; SINUS HISTIOCYTOSIS; xanthogranuloma; reticulohistiocytoma; juvenile XANTHOGRANULOMA; xanthoma disseminatum; as well as the lipid storage diseases (SEA-BLUE HISTIOCYTE SYNDROME; and NIEMANN-PICK DISEASES).


Warburg micro syndrome 1

description: Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP1 gene.


acrocraniofacial dysostosis

description: Acrocraniofacial dysostosis is a very rare form of acrofacial dyosotosis, reported in two sisters to date, characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988.


staphyloenterotoxemia

description: Food poisoning that is caused by Staphylococcal infection.


nasopharyngitis

description: An inflammatory process that affects the nasopharynx.


Dennis-Fairhurst-Moore syndrome

description: A severe form of Hallermann-Streiff syndrome, observed in one family. This is an n-of-1 use case where only one patient or family has been described with this disorder.


retinal macular dystrophy type 2

description: Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages.


name: congenital heart defects, multiple types, 1, X-linked


congenital agammaglobulinemia

description: An instance of agammaglobulinemia that is present from birth.


vesicoureteral reflux 8

description: Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene.


malignancy in giant cell tumor of bone

description: A malignant tumor that arises from the bone. It is characterized by the presence of an area of high grade sarcoma in an otherwise typical giant cell tumor (primary malignancy in giant cell tumor), or the presence of sarcoma in which the pre-existing giant cell tumor may or may not be apparent (secondary malignancy in giant cell tumor).


name: azygos continuation of the inferior vena cava


neoplasm of mature B-cells

description: A neoplasm of follicle center B cells which has at least a partial follicular pattern. Follicular lymphomas comprise about 35% of adult non-Hodgkin lymphomas in the U.S. and 22% worldwide. Most patients have widespread disease at diagnosis. Morphologically, follicular lymphomas are classified as Grade 1, Grade 2, and Grade 3, depending on the percentage of the large lymphocytes present. The vast majority of cases (70-95%) express the BCL-2 rearrangement [t(14;18)]. Histological grade correlates with prognosis. Grades 1 and 2 follicular lymphomas are indolent and grade 3 is more aggressive (adapted from WHO, 2001).


name: vitamin D hydroxylation-deficient rickets, type 1B

description: An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP2R1 gene, encoding vitamin D 25-hydroxylase, the hepatic enzyme that converts vitamin D to 25-hydroxyvitamin D, the precursor of 1,25-dihydroxyvitamin D (calcitriol). The condition is characterized by reduced serum concentrations of 25-hydroxyvitamin D, hypophosphatemia, hypocalcemia with secondary hyperparathyroidism and elevated serum alkaline phosphatase, and by failure to thrive, seizures, muscle weakness, and rickets.


name: neurodevelopmental disorder with microcephaly, ataxia, and seizures


torsion dystonia 7

description: A focal dystonia characterized by predominately cervical dystonia that has material basis in variation in the chromosome region 18p.


name: alar cartilages hypoplasia-coloboma-telecanthus syndrome

description: Alar cartilages hypoplasia- coloboma- telecanthus is a very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976.


epilepsy, idiopathic generalized

description: A chronic condition characterized by recurrent generalized seizures.


gingival neoplasm

description: A benign or malignant neoplasm that affects the upper or lower gingiva.


carnitine acetyltransferase deficiency

description: A disease arising from a defect of carnitine acetyltransferase causing disruption of whole-body glucose homeostasis and muscle-specific loss of function results in reduced metabolic control, which resembles the insulin resistant state.


name: autoimmune primary adrenal insufficiency

description: Diminished production of adrenocortical hormones due to autoimmune destruction of the adrenal glands.


name: inherited glutathione metabolism disease

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


hydrolethalus syndrome 1

description: Any hydrolethalus syndrome in which the cause of the disease is a mutation in the HYLS1 gene.


tuberculum sellae meningioma

description: A meningioma that affects the tuberculum sellae.


name: punctate palmoplantar keratoderma type 2

description: Punctate palmoplantar keratoderma type 2 is a type of isolated, punctate, hereditary palmoplantar keratoderma characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections ("spiny keratosis") on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically, compact columnar parakeratosis over hypo- or agranular epidermis is observed.


oral leukoedema

description: A disorder of the buccal mucosa resembling early leukoplakia, characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer. (Dorland, 27th ed)


infective vaginitis

description: An infectious process affecting the vagina. Symptoms include pain and purulent discharge.


name: ectodermal dysplasia arthrogryposis diabetes mellitus


canine hepatocellular carcinoma

description: A malignant tumor arising from hepatocytes that occurs in dogs.


description: Arachnodactyly-intellectual disability-dysmorphism syndrome is characterized by moderate intellectual deficit, brachycephaly, typical facies (thin lips and microstomia), ectomorphic habitus with extremely long, thin fingers and toes, and hypoplastic external genitalia. It has been described in three patients.


focal segmental glomerulosclerosis 8

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


diabetes insipidus, pig

description: Diabetes insipidus that occurs in pig.


osteoradionecrosis

description: Necrosis of bone following radiation injury.


velo-facial-skeletal syndrome

description: Velo-facial-skeletal syndrome is a very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported.


name: short rib-polydactyly syndrome, Majewski type


sleep-wake disorder

description: Abnormal sleep-wake schedule or pattern associated with the circadian rhythm which affect the length, timing, and/or rigidity of the sleep-wake cycle relative to the day-night cycle.


endometrial disorder

description: A non-neoplastic or neoplastic disorder that affects the endometrium. Representative examples include endometritis, endometrial hyperplasia, and endometrial carcinoma.


nerve plexus neoplasm

description: A neoplasm (disease) that involves the nerve plexus.


name: spondyloepimetaphyseal dysplasia, Isidor-Toutain type


intellectual disability, X-linked 61

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


name: coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness


name: cerebellar atrophy, visual impairment, and psychomotor retardation;


name: autosomal recessive nonsyndromic hearing loss 67

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LHFPL5 gene.


distal 7q11.23 microdeletion syndrome

description: Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression).


12q15q21.1 microdeletion syndrome

description: 12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated.


gasserian ganglion meningioma

description: A meningioma that affects the trigeminal ganglion.


steatitis

description: A disease of cats and mink characterized by a marked inflammation of adipose tissue and the deposition of 'ceroid' pigment in the interstices of the adipose cells. It is believed to be caused by feeding diets containing too much unsaturated fatty acid and too little vitamin E. (Merck Veterinary Manual, 5th ed; Stedman, 25th ed)


familial adenomatous polyposis, dog

description: Familial adenomatous polyposis that occurs in dog.


name: diabetes mellitus type 2 associated cataract

description: Diabetic cataracts are thought to be caused by hyperglycemia associated with disturbed glucose metabolism


atrial septal defect, dog

description: Atrial septal defect that occurs in dog.


glaucoma-sleep apnea syndrome

description: Glaucoma-sleep apnea syndrome is characterized by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children).


name: global developmental delay with speech and behavioral abnormalities


rheumatic disease of mitral valve

description: A rheumatologic disorder that involves the mitral valve.


name: developmental and epileptic encephalopathy 99


Perrault syndrome 1

description: Any Perrault syndrome in which the cause of the disease is a mutation in the HSD17B4 gene.


name: congenital thrombotic thrombocytopenic purpura

description: Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.


complement receptor deficiency

description: A disorder with basis in disruption of a complement receptor.


name: combined immunodeficiency due to CD3gamma deficiency

description: Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations.


name: hyperparathyroidism, primary, caused by water clear cell hyperplasia


high pressure neurological syndrome

description: A syndrome related to increased atmospheric pressure and characterized by tremors, nausea, dizziness, decreased motor and mental performance, and seizures. This condition may occur in those who dive deeply (c. 1000 ft) usually while breathing a mixture of oxygen and helium. The condition is associated with a neuroexcitatory effect of helium.


name: autoimmune thrombocytopenia, domestic cat

description: Autoimmune thrombocytopenia that occurs in domestic cat.


description: A rare disorder caused by mutation in the AMACR gene. Racemization is the prerequisite to beta-oxidation for branched chain fatty acids and bile acids. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy. AMACR deficiency rarely presents as liver disease in infancy.


factor XI deficiency, cattle

description: Factor XI deficiency that occurs in cattle.


name: aromatic L-amino acid decarboxylase deficiency

description: Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction.


Antley-Bixler syndrome

description: Antley-Bixler syndrome is a very rare disorder characterized by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.


borderline leprosy

description: A form of leprosy in which there are clinical manifestations of both principal types (lepromatous and tuberculoid). The disease may shift toward one of these two polar or principal forms.


name: testicular sex cord-stromal benign neoplasm

description: A sex cord-stromal benign neoplasm that arises from the testis.


description: Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989.


pentasomy

description: A chromosomal disorder consisting of the presence of three chromosomes of the same type in addition to the normal diploid number.


name: neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline


hereditary spastic paraplegia 44

description: A very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein.


posterior cortical atrophy

description: Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities.


anodontia, domestic cat

description: Anodontia that occurs in domestic cat.


name: combined oxidative phosphorylation deficiency 43


gangliosidosis, non-human animal

description: Gangliosidosis that occurs in non-human animals.


familial adenomatous polyposis, pig

description: Familial adenomatous polyposis that occurs in pig.


name: inborn disorder of biogenic amine metabolism and transport


name: multiple mitochondrial dysfunctions syndrome 2

description: Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the BOLA3 gene.


autosomal dominant sideroblastic anemia

description: Autosomal dominant form of sideroblastic anemia.


norovirus infectious disease

description: Infections caused by viruses of the genus in the family caliciviridae, which is associated with epidemic gastroenteritis in humans.


name: Chediak-Higashi syndrome, non-human animal

description: Chediak-Higashi syndrome that occurs in non-human animals.


sialolithiasis

description: A concretion in the salivary gland.


name: hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency


description: Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet.


name: osteodysplasty, precocious, of Danks, Mayne, and Kozlowski


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

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


vein disorder

description: A disease involving the vein.


pelvis-shoulder dysplasia

description: Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis.


Lutembacher syndrome

description: A condition characterized by a combination of ostium secundum atrial septal defect and an acquired mitral valve stenosis.


benign lipomatous neoplasm

description: A benign mesenchymal neoplasm composed of adipose (fatty) tissue. The most common representative of this category is the lipoma.


name: febrile infection-related epilepsy syndrome

description: A rare, potentially fatal, epileptic encephalopathy characterized by explosive-onset of recurrent multifocal and bilateral tonic-clonic seizures following an unspecific febrile illness. The syndrome develops without a clear acute structural, toxic or metabolic cause, in a patient without previous epilepsy. FIRES is a subgroup of new-onset refractory status epilepticus (NORSE), and requires a preceding febrile infection as a mandatory feature.


c8 deficiency, non-human animal

description: C8 deficiency that occurs in non-human animals.


Emery-Dreifuss-like muscular dystrophy

description: A rare inherited muscular dystrophy characterized by the coexistence of limb-girdle weakness and early-onset diffuse joint contractures without cardiomyopathy.


name: thrombophilia, X-linked, due to factor 8 defect


Sheldon-hall syndrome

description: Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.


dorsal spinal cord lipoma

description: A rare lipomatous, dysraphic malformation characterized by attachment to the dorsal surface of the spinal cord but not extending to the conus. It can be associated with others features such as a stalk and vertebral bone abnormalities.


entropion, non-human animal

description: Entropion that occurs in non-human animals.