primary hyperoxaluria type 3

description: Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis.


syndactyly, sheep

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

description: Syndactyly that occurs in sheep.


proliferative vitreoretinopathy

description: Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes.


tenosynovitis

description: Inflammation of the synovial lining of a tendon sheath. Causes include trauma, tendon stress, bacterial disease (gonorrhea, tuberculosis), rheumatic disease, and gout. Common sites are the hand, wrist, shoulder capsule, hip capsule, hamstring muscles, and Achilles tendon. The tendon sheaths become inflamed and painful, and accumulate fluid. Joint mobility is usually reduced.


narcolepsy 7

description: Any narcolepsy in which the cause of the disease is a mutation in the MOG gene.


childhood electroclinical syndrome

description: A electroclinical syndrome that occurs during childhood.


postpartum depression

description: A type of clinical depression that occurs after childbirth.


name: spastic paraplegia 79A, autosomal dominant, with ataxia


annular lichen planus

description: Annular lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of annular lesions.


name: autoinflammatory syndrome with immunodeficiency

description: An autoinflammatory syndrome characterized by onset of various autoimmune features usually in the first decades of life, although later onset has been reported. Typical features include autoimmune cytopenia, hemolytic anemia, thrombocytopenia, and lymphadenopathy. More variable features may include autoimmune thyroiditis, psoriasis or eczema, nephritis, hepatitis, and symptoms of systemic lupus erythematosus (SL). Some patients may have recurrent infections or exacerbation of the disease with acute infection. Laboratory studies show variable findings, often decreased numbers of naive B cells, lymphopenia with skewed subsets, hypogammaglobulinemia, presence of autoantibodies, and a hyperinflammatory state. The disorder shows autosomal dominant inheritance with incomplete penetrance.


attenuated Chédiak-Higashi syndrome

description: Attenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS, a genetic disorder characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.


spastic ataxia 1

description: Any autosomal dominant spastic ataxia in which the cause of the disease is a mutation in the VAMP1 gene.


name: self-limited familial infantile epilepsy

description: This syndrome is characterized by the onset of seizures between 3 and 20 months of age (peak 6 months). Seizures may be frequent at onset but usually remit within 1 year from the onset. In untreated cases there can be isolated or brief clusters of seizures within the period from onset to remission. A minority of individuals may have epilepsy in later life. Some patients (with PRRT2 mutations) may develop paroxysmal kinesiogenic dyskinesia in later life.


cone-rod dystrophy 6

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the GUCY2D gene.


polyrrhinia

description: Polyrrhinia is an extremely rare, major congenital malformation characterized by complete duplication of the nose resulting in twofully developed noses often associated with choanal atresia, causing respiratory distress and necessitating surgical repair.


name: wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia

description: Skeletal dysplasia with wormian bone-multiple fractures-dentinogenesis imperfecta is a skeletal disorder, reported in three patients to date, characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999.


acquired peripheral neuropathy

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


name: deafness, cataract, impaired intellectual development, and polyneuropathy


description: X-linked intellectual disability-seizures-psoriasis syndrome has been described in four male cousins. The mode of inheritance is thought to be X-linked recessive.


thrombotic microangiopathy

description: The syndromes of microangiopathic hemolytic anemia, thrombocytopenia, and variable signs of organ impairment, due to platelet aggregation in the microcirculation.


leg dermatosis

description: A nonspecific term used to denote any cutaneous lesion or group of lesions, or eruptions of any type on the leg. (From Stedman, 25th ed)


Joubert syndrome 16

description: Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM138 gene.


distal trisomy 6p

description: Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay.


endemic goiter

description: Thyroid gland enlargement caused by inadequate dietary iodine intake. It occurs in areas in which the soil lacks iodine compounds or there is low seafood consumption.


name: neurodevelopmental disorder with visual defects and brain anomalies


syndactyly, dog

description: Syndactyly that occurs in dog.


essential fructosuria

description: Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated.


dermatofibrosarcoma protuberans

description: Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22).


name: autosomal recessive nonsyndromic hearing loss 13

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 7q34-q36.


congenital hypothyroidism, chicken

description: Congenital hypothyroidism that occurs in chicken.


parietal foramina 1

description: Any parietal foramina in which the cause of the disease is a mutation in the MSX2 gene.


skull base neoplasm

description: A benign or malignant neoplasm that affects the skull base.


urethral disorder

description: A disease involving the urethra.


name: PAX5-related B lymphopenia and autism spectrum disorder

description: PAX5 deficiency causing neurodevelopmental abnormalities including autism spectrum disorder in addition to hypogammaglobulinemia due to early B cell developmental block and impaired immune responses.


name: acute myeloid leukemia, t(6;9)(p23;q34.1)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(6;9)(p23;q34.1). (A cytogenetic abnormality that refers to the translocation of the short arm (p23) of chromosome 6 and the long arm (q34.1) of chromosome 9. It is associated with DEK/NUP214 fusions, acute myeloid leukemia and myelodysplastic syndromes.)


lacrimal apparatus disorder

description: A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus.


chromosome 17 disorder

description: Chromosomal disorder in which chromosome 17 is affected.


name: spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome


nephritis, non-human animal

description: Nephritis that occurs in non-human animals.


myoclonic dystonia 26

description: Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the KCTD17 gene.


name: high-grade neuroendocrine carcinoma of the corpus uteri

description: High-grade neuroendocrine carcinoma of the corpus uteri is an extremely rare, aggressive, primary uterine neoplasm, originating from neuroendocrine cells scattered within the endometrium, characterized, macroscopically, by a bulky, frequently polypoid, mass with abundant necrosis located in the uterus and, histologically, by rosette-like and cord-like structures consisting of small, rounded cells with oval nuclei and scarce cytoplasm. Patients often present with dysfunctional uterine bleeding, pelvic or abdominal mass and, especially in later stages of the disease, abdominal pain. Symptomatic metastatic spread or symptoms related to a paraneoplastic syndrome, such as retinopathy, or Cushing syndrome due to ectopic ACTH production, may be associated.


name: intellectual disability, autosomal recessive 63


idiopathic acute transverse myelitis

description: Idiopathic acute transverse myelitis (ATM) is an immune-mediated inflammatory demyelinating disorder of the spinal cord with motor, sensory and autonomic involvement.


name: partial duplication of the long arm of chromosome 14


osteogenesis imperfecta type 7

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


disorder of peroxisomal transporter

description: Any peroxisomal single enzyme/protein defect that disrupts peroxisomal transport.


name: onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome


name: acute myeloid leukemia, CEBPA gene mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly CEBPA gene mutation. (Mutation of the CEBPA gene encoding CCAAT/enhancer binding protein alpha. It is seen in acute myeloid leukemias usually associated with a normal karyotype.)


ergotism

description: Poisoning caused by ingesting ergotized grain or by the misdirected or excessive use of ergot as a medicine.


Ackerman syndrome

description: Ackerman syndrome is characterized by pyramidal molar roots and taurodontism, associated with variable anomalies. It has been described in two generations of one family. Both parents and their six sibs had pyramidal, taurodont or fused molar roots. Some of the patients also had hypotrichosis, an abnormal upper lip, thickened and wide philtrum, and/or juvenile glaucoma. Other features included entropion of the eyelid, syndactyly and clinodactyly of the fifth fingers.


aglossia and situs inversus

description: A disease characterized by complete absence of tongue that can also be associated with limb deformities, syndromes and aberrant positioning of the visceral organs.


altitude sickness

description: Multiple symptoms associated with reduced oxygen at high altitude.


name: distal myopathy with vocal cord weakness

description: Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction.


tinea pedis

description: Dermatological pruritic lesion in the feet, caused by Trichophyton rubrum, T. mentagrophytes, or Epidermophyton floccosum.


tetramelic monodactyly

description: Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992.


name: intellectual disability, autosomal dominant 3

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CDH15 gene.


classic medulloblastoma

description: Classic medulloblastoma is a histological variant of medulloblastoma, an embryonic malignancy, having a midline location, occurring most often in children and manifesting with variable symptoms such as headaches, nausea, vomiting and ataxia.


name: ketoacidosis due to monocarboxylate transporter-1 deficiency


peroneal nerve paralysis

description: Paralysis of the nerves located in the legs.


Liddle syndrome 1

description: Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1B gene.


name: combined oxidative phosphorylation deficiency 42


Arterivirus infectious disease

description: Infections caused by viruses of the family arteriviridae.


metachromatic leukodystrophy

description: A rare lysosomal storage disorder characterized by intralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function.


herpetiform pemphigus

description: Herpetiform pemphigus is a rare superficial pemphigus disease characterized by severe intractable pruritus with erythematous or urticarial plaques and vesicles organized in a herpetiform pattern. Mucosae are generally spared. Eosinophilia in peripheral blood and low titers of circulating autoantibodies are observed in many cases. Histologically, minimal or no apparent acantholysis is associated.


name: brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability


description: Tracheobronchopathia osteochondroplastica (TO) is an idiopathic and benign disease of the large airways characterized by submucosal osteocartilaginous nodules presenting in the trachea with or without the involvement of the major bronchi.


nemaline myopathy 7

description: Any nemaline myopathy in which the cause of the disease is a mutation in the CFL2 gene.


fascioloidiasis

description: Infection of cattle and other herbivores with the giant liver fluke Fascioloides magna. It is characterized by extensive destruction of the liver parenchyma.


name: congenital alveolar dysplasia due to TBX4

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


name: developmental and epileptic encephalopathy 110


branchiootic syndrome 3

description: Any branchiootic syndrome in which the cause of the disease is a mutation in the SIX1 gene.


Leydig cell hypoplasia, type 1

description: Any Leydig cell hypoplasia in which the cause of the disease is a mutation in the LHCGR gene.


intellectual disability, X-linked 101

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the MID2 gene.


name: epidermolysis bullosa simplex 1A, generalized severe

description: A basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration.


locked-in syndrome

description: Locked-in syndrome (LIS) is a neurological condition characterized by the presence of sustained eye opening, quadriplegia or quadriparesis, anarthria, preserved cognitive functioning and a primary code of communication that uses vertical eye movements or blinking.


isotretinoin-like syndrome

description: Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy.


myopathy caused by variation in FKRP

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


name: toxic maculopathy due to antimalarial drugs

description: Toxic maculopathy due to antimalarial drugs is a rare, acquired eye disease, due to long-term exposure to chloroquinine (CQ) or hydrochloroquinine (HCQ), characterized by a slowly progressive, usually non-reversible, development of bilateral atrophic bull's-eye maculopathy (progressive loss of central vision acuity, reduced color vision and central scotoma), which in severe cases can spread over the entire fundus, leading to widespread retinal atrophy and visual loss.


lumbar plexus neoplasm

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


benign teratoma

description: A germ cell benign neoplasm that derives from mature tissue elements or a limited amount of immature tissue elements.


name: developmental and epileptic encephalopathy 109


pestivirus infectious disease

description: Infections with viruses of the genus pestivirus, family flaviviridae.


vaginal rhabdomyosarcoma

description: A malignant mesenchymal neoplasm with skeletal muscle differentiation arising from the vagina.


specific granule deficiency 1

description: Any specific granule deficiency in which the cause of the disease is a mutation in the CEBPE gene.


name: congenital stationary night blindness 1H

description: Any congenital stationary night blindness in which the cause of the disease is a mutation in the GNB3 gene.


name: mitochondrial complex 1 deficiency, nuclear type 25


elastoderma

description: Elastoderma is a rare condition that affects the skin. People affected by elastoderma generally have increased laxity of skin covering a specific area of the body. Decreased recoil of the skin has also been reported. Although any part of the body can be affected, the skin of the neck and extremities (arms and legs, especially at the elbows and/or knees) are most commonly involved. The exact underlying cause is currently unknown; however, it generally occurs sporadically in people with no family history of the condition. There is no standard therapy available for elastoderma. Some cases have been treated with surgical excision (removal of affected skin), but hyperlaxity of skin often returns following the surgery.


name: multiple congenital anomalies/dysmorphic syndrome


name: herpes simplex type 2 infectious disease

description: A disease caused by infection with herpes simplex type 2.


ureter cancer

description: A malignant neoplasm involving the ureter


name: transient congenital hypothyroidism due to maternal factor


name: craniosynostosis with ocular abnormalities and hallucal defects


composite lymphoma

description: Coexistence of Hodgkin and non-Hodgkin lymphoma in the same anatomic site.


acute maxillary sinusitis

description: Acute form of maxillary sinusitis.


name: autosomal recessive ataxia due to PEX10 deficiency


name: autosomal recessive limb-girdle muscular dystrophy

description: Autosomal recessive form of limb-girdle muscular dystrophy.


hemoglobin E-beta-thalassemia syndrome

description: Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia.


name: familial isolated clinodactyly of fingers

description: Familial isolated clinodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by angulation of a digit in the radio-ulnar (coronal) plane, away from the axis of joint flexion-extension, in several members of a single family with no other associated manifestations. Deviation is usually bilateral and commonly involves the fifth finger. Affected digits present trapezoidal or delta-shaped phalanges on imaging.


Bardet-Biedl syndrome 2

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS2 gene.


immunodeficiency, common variable, 6

description: Any common variable immunodeficiency in which the cause of the disease is a mutation in the CD81 gene.


name: spondyloepimetaphyseal dysplasia, Bieganski type

description: A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive.


chronic gingivitis

description: Chronic painless inflammation of the gums. It is characterized by erythema and edema of the gums and bleeding while brushing the teeth.


adult-onset nemaline myopathy

description: Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset.


cylindrical spirals myopathy

description: Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated.


ligneous conjunctivitis

description: A rare form of chronic conjunctivitis characterized by the development of firm fibrin-rich, woody-like pseudomembraneous lesions mainly on the tarsal conjunctivae. Ligneous conjunctivitis is usually the initial and most common manifestation of type I congenital plasminogen deficiency.


16q24.3 microdeletion syndrome

description: 16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.


name: microphthalmia, isolated, with coloboma 10

description: Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the RBP4 gene.


multiple synostoses syndrome 1

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


autosomal dominant spastic ataxia

description: Autosomal dominant form of spastic ataxia.


amelanotic melanoma

description: A melanoma characterized by the complete absence of melanin pigment in the melanoma cells. It occurs more frequently on the face and it is often associated with desmoplastic reaction.


focal facial dermal dysplasia type IV

description: Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions.


cerebral cavernous malformation

description: A disorder characterized by malformations in the structure of the capillaries in the brain. It is caused by mutations in the CCM2, KRIT1 and PDCD10 genes. The capillaries fill with blood and stretch, thereby creating cavernous spaces. Some patients experience headaches, seizures, or visual and hearing disturbances. Cerebral hemorrhage may also occur.


name: ovarian cancer, familial, susceptibility to, 1


familial idiopathic torsion dystonia

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


name: central sleep apnea caused by high altitude


name: spondylocostal dysostosis 2, autosomal recessive


juxtaposition of the atrial appendages

description: Juxtaposition of the atrial appendages is a rare atrial appendage anomaly when both appendages are located on the left or the right side of the great arteries. It is asymptomatic and is usually diagnosed incidentally, but is frequently associated with other congenital heart diseases.


name: atypical pantothenate kinase-associated neurodegeneration


name: facial paresis, hereditary congenital, 3

description: Any congenital hereditary facial paralysis-variable hearing loss syndrome in which the cause of the disease is a mutation in the HOXB1 gene.


myoclonic cerebellar dyssynergia

description: A condition marked by progressive cerebellar ataxia combined with myoclonus usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal seizures, spasticity, and dyskinesias. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the cerebellum are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)


name: familial apolipoprotein gene cluster deletion syndrome


staphylococcal necrotizing pneumonia

description: Staphylococcal necrotizing pneumonia is a rare, bacterial, pulmonary infectious disease, caused by a Panton-Valentine leukocidin-producing Staphylococcus aureus strain, characterized by severe respiratory failure, extensive, rapidly progressing pneumonia and hemorrhagic lung necrosis. Patients typically present with influenza-like symptoms, such as fever, cough, and chest pain, as well as hemoptysis, hypotension, leukopenia, and severe respiratory symptoms that rapidly evolve to acute respiratory distress syndrome and septic shock. High mortality is associated.


name: ectodermal dysplasia with intellectual disability and syndactyly


name: prostatic malacoplakia associated with prostatic abscess


creatine biosynthetic process disease

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


name: brachydactyly-mesomelia-intellectual disability-heart defects syndrome

description: Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse).


dipetalonemiasis

description: A parasitic infection caused by genus of filarial worms called Dipetalonema. It produces microfilariae in the blood and body fluids.


name: autosomal dominant combined immunodeficiency due to ERBIN deficiency


name: Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1


conjunctival nevus

description: A benign melanocytic neoplasm that arises from the conjunctiva.


mouth disorder, non-human animal

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


sulfur metabolism disease

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


name: double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis


cat disease

description: Diseases of the domestic cat (Felis catus or F. domesticus). This term does not include diseases of the so-called big cats such as cheetahs; lions; tigers, cougars, panthers, leopards, and other Felidae for which the heading carnivora is used.


hyperhomocysteinemia

description: A serious metabolic condition caused by mutations in the MTHFR gene, medications, or nutritional deficiency. It results in increased levels of homocysteine in the blood. Patients with this condition are at an increased risk for recurrent blood clots formation and cardiovascular accidents.


vernal conjunctivitis

description: Inflammation of the cornea that is seasonal in nature.


psychogenic movement disorders

description: Psychogenic movement disorders (PMD) are movement disorders that cannot be attributed to any known structural or neurochemical diseases, but represent the manifestation of an underlying psychiatric illness or malingering. Most cases of PMD fall in the psychiatric diagnostic category of conversion disorders of the motor subtype.


chickenpox

description: A contagious childhood disorder caused by the varicella zoster virus. It is transmitted via respiratory secretions and contact with chickenpox blister contents. It presents with a vesicular skin rash, usually associated with fever, headache, and myalgias. The pruritic fluid-filled vesicles occur 10-21 days after exposure and last for 3-4 days. An additional 3-4 days of malaise follows before the affected individual feels better. An individual is contagious 1-2 days prior to the appearance of the blisters until all blisters are crusted over. Generally, healthy individuals recover without complications.


name: chronic myelomonocytic leukemia, non-human animal

description: Chronic myelomonocytic leukemia that occurs in non-human animals.


name: scleromyxedema without monoclonal gammopathy

description: Scleromyxedema without monoclonal gammopathy is a form of atypical lichen myxedematosus, characterized by a generalized sclerodermoid infiltration of skin studded with multiple, firm papules of 1-3 mm in diameter involving face (leonine appearance), trunk, and limbs, without monoclonal gammopathy. The involvement of the face can be missing and pruritus may be prominent.


paragangliomas 3

description: Any paraganglioma in which the cause of the disease is a mutation in the SDHC gene.


name: ectopia lentis-chorioretinal dystrophy-myopia syndrome

description: Ectopia lentis-chorioretinal dystrophy-myopia syndrome is characterized by anomalies of the lens (ectopia and cataracts) and retina (generalized tapetoretinal dystrophy and total retinal detachment). Myopia has also been reported. It has been described in four members of the same family, all resulting from a consanguineous marriage. The mode of transmission is autosomal recessive.


visceral leishmaniasis

description: A severe form of leishmaniasis characterized by irregular bouts of fever, substantial weight loss, swelling of the spleen and liver, and anemia (which may be serious). If left untreated it may lead to death. Two species of Leishmania are known to give rise to the visceral form of the disease. The species commonly found in East Africa and the Indian subcontinent is L. donovani and the species found in Europe, North Africa, and Latin America is L. infantum, also known as L. chagasi.


retinitis pigmentosa 69

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


isolated microphthalmia 2

description: Any isolated microphthalmia in which the cause of the disease is a mutation in the VSX2 gene.


name: spastic paraparesis-cataracts-speech delay syndrome


hypomyelinating leukodystrophy 13

description: Any leukodystrophy in which the cause of the disease is a mutation in the HIKESHI gene.


name: ectodermal dysplasia 13, hair/tooth type


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

description: Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.


foot rot

description: A disease of the horny parts and of the adjacent soft structures of the feet of cattle, swine, and sheep. It is usually caused by Corynebacterium pyogenes or Bacteroides nodosus (see dichelobacter nodosus). It is also known as interdigital necrobacillosis. (From Black's Veterinary Dictionary, 18th ed)


spinocerebellar ataxia type 11

description: Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs.


Lafora disease

description: Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline.


name: Pasteurella multocida infectious disease


Ureaplasma urethritis

description: Infections with bacteria of the genus ureaplasma.


name: primary cutaneous peripheral T-cell lymphoma not otherwise specified


name: lethal occipital encephalocele-skeletal dysplasia syndrome

description: Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated.


chemotherapy-induced alopecia

description: Hair loss as a result of chemotherapy treatment.


primary ciliary dyskinesia 35

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the TTC25 gene.


nasal cavity lymphoma

description: A primary lymphoma that affects the nasal cavity and the bulk of the tumor is in this anatomic area.


brachyolmia

description: Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones.


Sengers syndrome

description: Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.


epilepsy, dog

description: Epilepsy that occurs in dog.


lipodermatosclerosis

description: Lipodermatosclerosis refers to changes in the skin of the lower legs. It is a form of panniculitis (inflammation of the layer of fat under the skin). Signs and symptoms include pain, hardening of skin, change in skin color (redness), swelling, and a tapering of the legs above the ankles. The exact underlying cause is unknown; however, it appears to be associated with venous insufficiency and/or obesity. Treatment usually includes compression therapy.


name: myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay


non-syndromic polydactyly

description: A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits.


Newcastle disease

description: A condition caused by infection by the Newcastle disease virus, which may be characterized by conjunctivitis, respiratory illness, and diarrhea.


Bardet-Biedl syndrome 22

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT74 gene.


familial cutaneous collagenoma

description: Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission.


Joubert syndrome 27

description: Any Joubert syndrome in which the cause of the disease is a mutation in the B9D1 gene.


varicella zoster infection

description: A highly contagious viral infection caused by the varicella zoster virus. Clinically, it may be manifested as shingles or chicken pox.


name: constitutional delay of growth and puberty

description: Transient state of hypogonadotropic hypogonadism associated with prolongation of childhood phase of growth, delayed skeletal maturation, delayed and attenuated pubertal growth spurt, and relatively low insulin-like growth factor-1 secretion.


DKC1-related disorder

description: Any dyskeratosis congenita in which the cause of the disease is a mutation in the DKC1 gene.


familial pseudohyperkalemia

description: An inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis.


IgG4-related ophthalmic disorder

description: A IgG4-related disease that involves the eye.


aseptic meningitis

description: Inflammation of the membranes surrounding the brain and spinal cord without a bacterial pathogen.


Singleton-Merten syndrome 2

description: Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the DDX58 gene.


Melnick-Needles syndrome

description: A otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.


name: extraoral halitosis due to methanethiol oxidase deficiency


name: lymphedema-atrial septal defects-facial changes syndrome

description: Lymphedema-atrial septal defects-facial changes syndrome is characterized by congenital lymphoedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive.


medulloblastoma WNT activated

description: A medulloblastoma that is characterized as a molecular subtype by activation of the WNT pathway and TP53 mutations may be present or absent.


name: wooly hair, autosomal recessive 1, with or without hypotrichosis


entropion, dog

description: Entropion that occurs in dog.


name: palmoplantar keratoderma i, striate, focal, or diffuse


chancre

description: The primary sore of syphilis, a painless indurated, eroded papule, occurring at the site of entry of the infection.


male genital tuberculosis

description: Mycobacterium infections of the male reproductive tract (genitalia, male).


acute myeloid leukemia with BCR-ABL1

description: A rare, de novo acute myeloid leukemia in which the blasts harbor BCR-ABL1 translocation in the absence of a history and clinical and laboratory features of chronic myelogenous leukemia.


name: autosomal recessive nonsyndromic hearing loss 91

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SERPINB6 gene.


hereditary cerebellar ataxia

description: Cerebellar ataxia that is transmitted from parent to child.


name: autosomal recessive nonsyndromic hearing loss 16

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


name: microcephaly-seizures-intellectual disability-heart disease syndrome

description: Microcephaly-seizures-intellectual disability-heart disease syndrome is characterized by intellectual deficit, a cardiac anomaly, micropenis, hypothyroidism, epileptic seizures, and skeletal anomalies. It has been described in two males.


Charcot-Marie-Tooth disease type 2B1

description: Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy.


neurogenic thoracic outlet syndrome

description: Neurogenic thoracic outlet syndrome (NTOS) is a form of thoracic outlet syndrome (TOS) that presents with pain, paresthesias and weakness in an upper extremity and is divided into true NTOS and disputed NTOS.


name: dilated cardiomyopathy, non-human animal

description: Dilated cardiomyopathy that occurs in non-human animals.


name: immunodeficiency due to MASP-2 deficiency

description: Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic.


Aicardi-Goutieres syndrome 8

description: A type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration ending in premature death. Brain imaging shows diffusely abnormal white matter, severe cerebral atrophy, and intracranial calcification.


complex neurodevelopmental disorder

description: A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy).


adult acute lymphoblastic leukemia

description: An acute lymphoblastic leukemia occurring during adulthood.


aggressive NK-cell leukemia

description: A rare, highly aggressive, Epstein-Barr virus-associated leukemia, also known as aggressive NK-cell leukemia/lymphoma; it may represent the leukemic counterpart of nasal type extranodal NK/T-cell lymphomas. It affects primarily teenagers and young adults. It is characterized by the systemic proliferation of NK cells in the peripheral blood, bone marrow, liver, and spleen.


name: peroxisome biogenesis disorder, complementation group K


autosomal dominant osteopetrosis 2

description: A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).


premature ovarian failure 2A

description: Any primary ovarian failure in which the cause of the disease is a mutation in the DIAPH2 gene.


name: keratosis follicularis spinulosa decalvans, X-linked


name: peroxisome biogenesis disorder due to PEX16 defect

description: Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX16 gene.


name: spinal muscular atrophy, distal, autosomal recessive, 6


autosomal dominant omodysplasia

description: Autosomal dominant form of omodysplasia.


oxoglutaricaciduria

description: Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder, resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases.


name: splenogonadal fusion-limb defects-micrognathia syndrome

description: Splenogonadal fusion-limb defects-micrognatia syndrome is a rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations.


upper respiratory tract disorder

description: A disease involving the upper respiratory tract.


name: Charcot-Marie-Tooth disease with ptosis and parkinsonism


name: partial duplication of the short arm of chromosome 6

description: Chromosome 6p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 6p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. This condition can occur sporadically or be inherited from a parent who is either mildy affected (has the deletion) or carries a balanced translocation. Treatment is based on the signs and symptoms present in each person.


name: non-specific autoimmune brainstem encephalitis with characteristic antibodies


name: developmental and epileptic encephalopathy, 87


name: partial duplication of the long arm of chromosome 6

description: Chromosome 6q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 6q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. In most cases, chromosome 6q duplication occurs de novo or is inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Rarely, it is inherited from a parent with the same duplication. Treatment is based on the signs and symptoms present in each person.


name: developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities


placental site trophoblastic tumor

description: Placental site trophoblastic tumor is a rare gestational trophoblastic tumor (GTT) which develops from the placental implantation site and always occurs following pregnancy, voluntary termination of pregnancy (VTP) or miscarriage.


name: chromosome 17P13.3, telomeric, duplication syndrome


name: progressive pseudorheumatoid arthropathy of childhood

description: Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED.


atrial fibrillation, familial, 4

description: Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNE2 gene.


name: pulmonary hypertension, primary, autosomal recessive


manic bipolar affective disorder

description: The manic phase of bipolar disorder.


sporadic Creutzfeldt-Jakob disease

description: Sporadic Creutzfeldt-Jakob disease (sCJD) is a subacute fatal neurodegenerative disease belonging to the group of prion diseases, characterized by a clinical triad of dementia, myoclonus, and EEG anomalies, along with neuropathological evidence of neuronal loss, spongiform changes, and astrocytosis. There are three types of CJD: sporadicCJD (sCJD), inherited CJD, and iatrogenic and variant CJD (vCJD).


chromosome 21 disorder

description: Chromosomal disorder in which chromosome 21 is affected.


name: glycogen storage disease type 1 due to SLC37A4 mutation

description: Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene.


Cockayne syndrome type 3

description: Cockayne syndrome type III, also known as the mild form of Cockayne syndrome, is a rare genetic disorder that causes early (premature) aging. Unlike the more severe forms of this condition, individuals with Cockayne syndrome type III can have normal growth and development. Symptoms may include sunlight sensitivity (photosensitivity), hearing loss, eye and bone abnormalities, and changes to the brain that can be seen on imaging (brain MRIs). In general, symptoms of Cockayne syndrome type III are usually not noticeable until later in childhood.


narcolepsy, horse

description: Narcolepsy that occurs in horse.


name: situs inversus totalis with cystic dysplasia of kidneys and pancreas


sebaceous gland disorder

description: A disease involving the sebaceous gland.


name: hemolytic poikilocytic anemia due to reduced ankyrin binding sites


name: hypoalphalipoproteinemia, primary, 2, intermediate


progressive myoclonic epilepsy type 7

description: Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCNC1 gene.


eumycotic mycetoma

description: A chronic granulomatous inflammation involving the deep dermis and the subcutaneous tissues. It is caused by fungi and actinomycetes.


name: intellectual developmental disorder 60 with seizures


name: congenital adrenal hypoplasia, non-human animal

description: Congenital adrenal hypoplasia that occurs in non-human animals.


Coffin-Siris syndrome 6

description: Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID2 gene.


amyotrophic lateral sclerosis type 6

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


dyschondrosteosis-nephritis syndrome

description: Dyschondrosteosis - nephritis is characterized by the association of short stature due to mesomelic shortening of the limbs and Madelung deformity, with hereditary nephritis.


name: spondylometaphyseal dysplasia-cone-rod dystrophy syndrome

description: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterized by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.


Bardet-Biedl syndrome 18

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBIP1 gene.


peroxisome biogenesis disorder 1B

description: An autosomal recessive condition caused by mutation(s) in the PEX1 gene, encoding peroxisome biogenesis factor 1. Peroxisome biogenesis disorder 1B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.


sacrum chordoma

description: A chordoma (disease) that involves the fused sacrum.


autosomal dominant Robinow syndrome 3

description: Any Robinow syndrome in which the cause of the disease is a mutation in the DVL3 gene.


name: developmental and epileptic encephalopathy, 65

description: An autosomal dominant form of developmental and epileptic encephalopathy, caused by mutation(s) in the CYFIP2 gene, encoding cytoplasmic FMR1-interacting protein 2.


name: SLC35A2-congenital disorder of glycosylation

description: SLC35A2-CDG is a congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum).


stiff skin syndrome, non-human animal

description: Stiff skin syndrome that occurs in non-human animals.


name: febrile ulceronecrotic Mucha-Habermann disease

description: Febrile ulceronecrotic Mucha-Habermann disease (FUMHD) is a rare and severe form of pityriasis lichenoides et varioliformis acuta (PLEVA). PLEVA is characterized by skin lesions that ulcerate, breakdown, form open sores, then form a red-brown crust. FUMHD often begins as PLEVA, but then rapidly and suddenly progresses to large, destructive ulcers. There may be fever and extensive, painful loss of skin tissue as well as secondary infection of the ulcers. Diagnosis of FUMHD is confirmed by biopsy of skin lesions. FUMHD occurs more frequently in children, peaking at age 5 to 10. Males tend to be affected more often than females. While some cases of FUMHD have resolved without therapy, others have resulted in death. Early diagnosis and prompt treatment may help to reduce morbidity and death.


alopecia areata, dog

description: Alopecia areata that occurs in dog.


desmoplastic/nodular medulloblastoma

description: A histological variant of medulloblastoma, an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache.


stiff skin syndrome

description: A rare syndrome characterized by hard, thick skin, usually on the entire body. The thickening of the skin can limit joint mobility and causes joints to be stuck in a bent position (flexion contractures). The onset of signs and symptoms can range from presenting at birth through childhood. Other signs and symptoms may include excessive hair growth (hypertrichosis), loss of body fat (lipodystrophy), scoliosis, muscle weakness, slow growth, and short stature. Weakness or paralysis of the eye muscles have also been reported. Stiff skin syndrome is caused by mutations (changes) in the FBN1 gene and is inherited in an autosomal dominant manner. Diagnosis is based on a clinical evaluation that is consistent with stiff skin syndrome, and the diagnosis can be confirmed with genetic testing. Treatment is based on the symptoms of each individual and may include physical therapy.


name: peroxisome biogenesis disorder due to PEX3 defect

description: Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX3 gene.


name: inborn disorder of lysine, hydroxylysine, and tryptophan metabolism

description: A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of lysine, hydroxylysine, and/or tryptophan.


atrial fibrillation, familial, 12

description: Any familial atrial fibrillation in which the cause of the disease is a mutation in the ABCC9 gene.


tamoxifen-related endometrial lesion

description: A spectrum of endometrial abnormalities that occur in women who use tamoxifen to treat or prevent the development of breast cancer. These abnormalities include endometrial polyps, endometrial hyperplasia, and endometrial carcinoma.


name: thrombophilia, familial, due to decreased release of tissue plasminogen activator


name: glycosylphosphatidylinositol biosynthesis defect 25


name: autosomal dominant nonsyndromic hearing loss 2A

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KCNQ4 gene.


LCAT deficiency

description: LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol.


lower limb hypertrophy

description: Lower limb hypertrophy is a rare, genetic, non-syndromic developmental defect during embryogenesis characterized by uni- or bilateral overgrowth of lower limbs involving bones and/or soft tissues and resulting in an abnormal increase in leg length and/or width. Hypertrophy presents either as a proportionate overgrowth of entire limb or involves only the proximal or distal parts of it. Phenotype ranges from mild hypertrophy without functional disability to massively hypertrophied limb with knee flexion and ankle equinus contractures and macrodystrophia lipomatosa. Patients may also present vascular abnormalities (e.g. cutaneous angiomas, varicose veins) and myalgia.


hereditary spastic paraplegia 61

description: A rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1.


Marfan syndrome, non-human animal

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


malignant essential hypertension

description: Essential hypertension with rapid progression to severe high blood pressure, papilledema, and renal failure.


cryptorchidism, puma

description: Cryptorchidism that occurs in puma.


recurrent idiopathic neuroretinitis

description: A rare inflammatory optic neuropathy characterized by recurrent episodes of idiopathic inflammation of the optic nerve head with optic disk edema associated with macular exudate in a star-shaped pattern. Patients present with acute visual loss, most typically in the form of a large central scotoma. Pain is mild or absent. Bilateral involvement is frequent and usually sequential. The interval between attacks is highly variable, ranging from months to several years. Visual loss is cumulative with each attack and often severe.


name: autosomal recessive nonsyndromic hearing loss 103

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLIC5 gene.


primary lymphedema

description: A congenital condition that results in swelling in the arms or legs, and can occur during adolescence or adulthood. Loss of motion and pain may also accompany the swelling. Protein-rich lymphatic fluid accumulates in tissues, engorging and enlarging vessels and often causing visible swelling, tenderness, and pain. Left untreated, the affected tissues may continue to swell, and can become hardened or fibrotic and susceptible to infection.


name: corticosteroid-sensitive aseptic abscess syndrome

description: Corticosteroid-sensitive aseptic abscesses syndrome is a well-defined entity within the group of autoinflammatory disorders.


PRPF8-related retinopathy

description: Any retinopathy caused by a variant in the PRPF8 gene.


name: cryptosporidiosis-chronic cholangitis-liver disease syndrome


name: corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome


neurotrophic keratopathy

description: Neurotrophic keratopathy is a rare degenerative disease of the cornea characterized by reduction or loss of corneal sensitivity that can be asymptomatic or present with red-eye and, during the early stages of the disease, a minor decrease in visual acuity. It eventually leads to loss of vision.


spinal polio

description: A paralytic poliomyelitis in which the site of paralysis is the spinal cord.


description: Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes.


atheroembolism of kidney

description: A cholesterol embolism that involves the kidney.


vitiligo, cattle

description: Vitiligo that occurs in cattle.


deafness-craniofacial syndrome

description: Deafness-craniofacial syndrome is characterized by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant.


reactive airway disease

description: Coughing, wheezing, or shortness of breath that is triggered by allergens, infection, or other irritants.


name: autosomal recessive spinocerebellar ataxia 14

description: Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).


eosinophil peroxidase deficiency

description: A rare abnormality of eosinophil granulocytes characterized by decreased or absent peroxidase activity and decreased volume of the granule matrix.


name: autosomal recessive spastic paraplegia type 59


name: mitochondrial complex 1 deficiency, nuclear type 26


atypical Werner syndrome

description: A heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.


Prieto syndrome

description: This syndrome is characterized by intellectual deficit associated with facial dysmorphism, patella luxation, and abnormal growth of the teeth.


tetralogy of fallot, cattle

description: Tetralogy of fallot that occurs in cattle.


non-atopic asthma

description: A type of asthma that isn't related to an allergy trigger like pollen or dust, and is less common than atopic asthma.


name: autosomal recessive nonsyndromic hearing loss 98

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


name: X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome


name: celiac disease-epilepsy-cerebral calcification syndrome

description: Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications.


name: female infertility due to oocyte meiotic arrest


name: acute megakaryoblastic leukemia in down syndrome


polydactyly-myopia syndrome

description: Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986.


pseudorabies

description: A highly contagious herpesvirus infection affecting the central nervous system of swine, cattle, dogs, cats, rats, and other animals.


3M syndrome 2

description: Any 3-M syndrome in which the cause of the disease is a mutation in the OBSL1 gene.


name: developmental delay, dysmorphic facies, and brain anomalies


fetal iodine syndrome

description: Fetal iodine syndrome refers to symptoms and signs that may be observed in a fetus or newborn when the mother was exposed during pregnancy to inappropriate (insufficient or excessive) amounts of iodine. Iodine deficiency is associated with goiter and hypothyroidism. When severe iodine deficiency occurs during pregnancy, it is associated with congenital hypothyroidism that is manifested by increased neonatal morbi-mortality and severe mental dysfunction, hyperactivity, attention disorders and a substantial decrease of IQ of an irreversible nature. Excessive iodine ingestion during the third trimester of pregnancy can result in hypothyroidism and fetal goiter due to a prolonged inhibition of thyroid hormone synthesis, an increase in thyrotropin (TSH).


name: ALG1-congenital disorder of glycosylation

description: A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3).


Newfoundland cone-rod dystrophy

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the RLBP1 gene.


name: sulfite oxidase deficiency due to molybdenum cofactor deficiency


acrodermatitis enteropathica, cattle

description: Acrodermatitis enteropathica that occurs in cattle.


name: craniosynostosis-intellectual disability syndrome of 51N and Gettig


Stickler syndrome, type 5

description: Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A2 gene.


alkaptonuria

description: A metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy).


name: intellectual disability, autosomal recessive 4


name: X-linked intellectual disability, Stocco dos Santos type


name: hereditary breast ovarian cancer syndrome

description: An autosomal dominant inherited syndrome caused by mutations in the BRCA1 or BRCA2 genes. Patients are at high risk of developing breast cancer, particularly before the age of fifty, high risk of developing a second primary breast cancer, and high risk of developing both breast and ovarian cancer.


name: hypohidrosis with abnormal palmar dermal Ridges


name: Friedreich ataxia and congenital glaucoma


pseudounicornuate uterus

description: Pseudounicornuate uterus is a rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube associated with a rudimentary second horn (which can be solid or contain a cavity with functioning endometrium and be communicating or non-communicating). Urinary tract anomalies are frequently associated.


persistent truncus arteriosus, horse

description: Persistent truncus arteriosus that occurs in horse.


osteogenesis imperfecta type 2

description: Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera.


Hendra virus infection

description: Hendra virus infection is a rare viral infection disorder caused by the Hendra virus characterized by onset of flu-like symptoms (fever, myalgia, headaches, lethargy) approximately one week after having been in close contact with bodily fluids of infected horses. Neurological manifestations (e.g. vertigo, confusion, ataxia) and progressive respiratory failure, leading to death, have also been reported.


name: microcephaly, growth restriction and increased sister chromatid exchange


neutrophil immunodeficiency syndrome

description: A primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas.


bacterial vaginosis

description: Infection caused by bacterial overgrowth in the vagina. Most affected women are asymptomatic. When symptoms occur, they include foul-smelling vaginal discharge, vaginal itching, and burning. Risk factors include sexual activity with multiple partners and the use of vaginal douches and intrauterine devices. Up to a third of cases resolve without treatment. Antibiotic treatment is recommended when symptoms are present and for women that are pregnant at the time of infection.


FG syndrome 4

description: Any FG syndrome in which the cause of the disease is a mutation in the CASK gene.


genitopatellar syndrome

description: Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency.


mucositis

description: Inflammation of the mucous membranes.


name: psychomotor retardation, epilepsy, and craniofacial dysmorphism


description: X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome is characterized by intellectual and motor deficit, spastic quadriparesis and agenesis of the corpus callosum, without craniofacial abnormalities or seizures. It has been described in four male members of a family. The mode of inheritance is most likely X-linked recessive.


name: immunodeficiency 65, susceptibility to viral infections


acetazolamide-responsive myotonia

description: Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ).


primary ciliary dyskinesia 7

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH11 gene.


hereditary otorhinolaryngologic disease

description: An instance of otorhinolaryngologic disease that is caused by a modification of the individual's genome.


papular xanthoma

description: Papular xanthoma is a form of non-Langerhans cell histiocytosis characterized by cutaneous presentation of solitary or disseminated yellow to orange-brown papular or papulonodular, noncoalescent, asymptomatic skin lesions located predominantly on the head, neck, trunk and extremities (rarely on oral mucosa), in the presence of normolipidemia. Microscopically, the lesions consist of monomorphous infiltrate of xanthomatized macrophages and numerous Touton giant cells, with scant or absent inflammatory infiltrate. It is usually not associated with systemic disease.


factor X deficiency, non-human animal

description: Factor X deficiency that occurs in non-human animals.


name: metachromatic leukodystrophy due to saposin B deficiency


otospondylomegaepiphyseal dysplasia

description: An inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.


description: Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH).


name: dystonia, early-onset, and/or spastic paraplegia


name: neuronopathy, distal hereditary motor, autosomal recessive 7


name: congenital pulmonary veins atresia or stenosis

description: Congenital pulmonary vein (PV) stenosis or atresia is a rare progressive life-threatening great vessels anomaly characterized by narrowing and obstruction of one or more normally positioned PV at their junction with the left atrium, that usually presents during early infancy with dyspnea, tachypnea, and repeated pulmonary infections, and eventually, when all PV of one lung are affected, results in pulmonary hypertension (PH) and consecutive pulmonary arterial hypertension (PAH). It may manifest as an isolated lesion or associated with other cardiac defects such as congenital pulmonary venous return anomaly and septal defects.


Scott Syndrome, dog

description: Scott Syndrome that occurs in dog.


name: disorder of lectin complement activation pathway

description: A disease that has its basis in the disruption of complement activation, lectin pathway.


melanoma, non-human animal

description: Melanoma that occurs in non-human animals.


name: acute myeloid leukemia, t(4;11)(q21;q23)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(4;11)(q21;q23). (A chromosomal abnormality consisting of the translocation of 4q21 with 11q23.)


malignant peritoneal mesothelioma

description: An aggressive malignant mesothelioma that arises from the peritoneum. Patients usually present with abdominal pain and ascites.


name: male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome

description: This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.


malignant histiocytosis

description: Distinctive neoplastic disorders of histiocytes. Included are malignant neoplasms of macrophages and dendritic cells.


malignant adenoma

description: A cell type cancer that is composed of epithelial tissue in which tumor cells form glands or glandlike structures, representing an early form of colorectal cancer.


isolated microphthalmia 5

description: Any isolated microphthalmia in which the cause of the disease is a mutation in the MFRP gene.


atrial fibrillation, familial, 6

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


name: acquired carbohydrate metabolism disease

description: An acquired metabolic disease that is has its basis in the disruption of carbohydrate metabolism.


cleft palate, spectacled flying fox

description: Cleft palate that occurs in spectacled flying fox.


leukonychia totalis

description: Leukonychia totalis is a rare nail anomaly disorder characterized by complete white discoloration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present.


Enterococcus faecalis infection

description: A bacterial infection induced by Enterococcus faecalis which is the most prevalent species (along with Enterococcus faecium) cultured from humans, accounting for more than 90% of clinical isolates. Enterococci are part of the normal intestinal flora of humans and animals. They have been long recognized as important human pathogens.


avascular necrosis

description: Necrotic changes in the bone tissue due to interruption of blood supply. Most often affecting the epiphysis of the long bones, the necrotic changes result in the collapse and the destruction of the bone structure.


elliptocytosis 2

description: Any hereditary elliptocytosis in which the cause of the disease is a mutation in the SPTA1 gene.


name: intellectual disability, autosomal recessive 12


sclerosteosis 2

description: Any sclerosteosis in which the cause of the disease is a mutation in the LRP4 gene.


Steel syndrome

description: A rare genetic bone disease characterized by short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus, and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism, and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described.


achondroplasia, cattle

description: Achondroplasia that occurs in cattle.


neonatal alloimmune neutropenia

description: A rare acquired neutropenia characterized by isolated neutropenia in a newborn due to maternal alloimmunization against human neutrophil antigens (HNA) inherited from the father and present on fetal neutrophils, and subsequent increased breakdown of the latter. The condition is self-limiting and resolves after several weeks. It usually presents with only mild bacterial infections or may even be asymptomatic, although severe forms with sepsis and fatal outcome have also been reported.


Ramos-Arroyo syndrome

description: Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature, and intellectual disability.


name: spastic paraplegia 90B, autosomal recessive


malignant cranial nerve neoplasm

description: Abnormal malignant growth of the cells that comprise the cranial nerve.


name: segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome

description: Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome is a rare, genetic, polymalformative syndrome characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer.


name: combined oxidative phosphorylation deficiency 33

description: An autosomal recessive condition caused by mutation(s) in the C1QBP gene, encoding complement component 1 Q subcomponent-binding protein, mitochondrial. The phenotype is highly variable.


choroideremia hypopituitarism

description: This is an X-linked recessive retinal degenerative disease that leads to degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye. Hypopituitarism is the decreased (hypo) secretion of one or more of the eight hormones normally produced by the pituitary gland at the base of the brain.


atrial septal defect 5

description: Any atrial heart septal defect in which the cause of the disease is a mutation in the ACTC1 gene.


name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1

description: Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene.


name: neurogenic scapuloperoneal syndrome, Kaeser type


eyelid disorder

description: A disease involving the eyelid.


pemphigoid

description: An autoimmune disease of skin and connective tissue that is characterized by subepidermal blistering especially in the lower abdomen, groin, and flexor surfaces of the extremities, creating tense blisters that do not break easily.


name: ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia


name: adenosine monophosphate deaminase deficiency

description: Adenosine monophosphate (AMP) deaminase deficiency is a metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of AMP deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterized by exercise-induced muscle pain, cramps and/or early fatigue.


Stormorken syndrome

description: Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait.


ankylosing spondylitis, dog

description: Ankylosing spondylitis that occurs in dog.


name: spondyloepiphyseal dysplasia tarda, Kohn type

description: Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit.


osteogenesis imperfecta type 15

description: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the WNT1 gene.


name: mitochondrial complex 4 deficiency, nuclear type 19


name: endocrine system disorder, non-human animal

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


hemochromatosis type 3

description: Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin.


name: autosomal recessive nonsyndromic hearing loss 96

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1p36.31-p36.13.


encephalitozoonosis

description: Infection with fungi of the genus encephalitozoon. Lesions commonly occur in the brain and kidney tubules. Other sites of infection in mammals are the liver; adrenal glands; optic nerves; retina; and myocardium.


congenital myasthenic syndrome 21

description: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC18A3 gene.


syphilitic encephalitis

description: An encephalitis caused by infection with Treponema.


stromal predominant kidney Wilms tumor

description: Wilms tumor of the kidney characterized by the predominance of the mesenchymal component.


name: muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome

description: This disorder is characterized by muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus.


ureteral lymphoma

description: A lymphoma that involves the ureter.


name: pilodental dysplasia-refractive errors syndrome

description: Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985.


name: myopathy, lactic acidosis, and sideroblastic anemia

description: Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterized by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anemia around adolescence, lactic acidaemia, and mitochondrial myopathy.


name: reticular dystrophy of the retinal pigment epithelium

description: Reticular dystrophy of the retinal pigment epithelium is a patterned dystrophy of the retinal pigment epithelium, of progressive course, characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. Reticular dystrophy of the retinal pigment epithelium is sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses, and partial atrophy of the iris.


description: Cochleosaccular degeneration-cataract syndrome is characterized by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant.


name: benign childhood occipital epilepsy, Panayiotopoulos type

description: A rare, genetic neurological disorder characterized by late infancy to early-adolescence onset of prolonged, nocturnal seizures which begin with autonomic features (e.g. vomiting, pallor, sweating) and associate tonic eye deviation, impairment of consciousness and may evolve to a hemi-clonic or generalized convulsion. Autonomic status epilepticus may be the only clinical event in some cases.


name: spastic paraplegia 90A, autosomal dominant


congenital bile acid synthesis defect 2

description: Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins.


corneal dystrophy, non-human animal

description: Corneal dystrophy that occurs in non-human animals.


Singleton-Merten syndrome 1

description: Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the IFIH1 gene.


Grayson-Wilbrandt corneal dystrophy

description: Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity.


CHIME syndrome

description: CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.


adult neuronal ceroid lipofuscinosis

description: A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration.


name: persistent Mullerian duct syndrome, domestic cat

description: Persistent Mullerian duct syndrome that occurs in domestic cat.


name: disorder of development or morphogenesis, non-human animal

description: Disorder of development or morphogenesis that occurs in non-human animals.


name: F12-associated cold autoinflammatory syndrome


canine hemangiosarcoma

description: Hemangiosarcoma occurring in a dog. It is an incurable tumor of vascular endothelial cells and occurs more commonly in dogs beyond middle age, and is especially common in certain breeds. Most hemangiosarcomas do not have a known cause.


name: multiple congenital anomalies due to 14q32.2 maternally expressed gene defect

description: A rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoskoliosis, joint contractures, diastasis recti, muscular hypotonia. There is increased risk of hepatoblastoma.


cyclic vomiting syndrome

description: A rare abnormality of the neuroendocrine system that is characterized by episodic nausea and vomiting.


hydrolethalus syndrome

description: Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.


name: cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism


hereditary spastic paraplegia 31

description: A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.


description: A syndrome characterized by intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis. It has been reported in four brothers. The mother of the affected boys had normal intelligence, plantar hyperkeratosis and a strong facial resemblance to her retarded sons. Her three daughters were normal. This syndrome most likely an X-linked recessive condition.


name: strictly posterior acute myocardial infarction


description: A form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age.


name: neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures

description: Autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development, with cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable. The cause is mutations in the ADPRHL2 gene.


name: Caliciviridae infectious disease, non-human animal

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


postinfectious vasculitis

description: Vasculitis, characterized by inflammatory lesions in the wall of vessels, may be due to different viruses.


AIPL1-related retinopathy

description: A retinopathy caused by biallelic variants in the AIPL1 gene.


name: dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities


spastic ataxia 7

description: Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present.


name: amyloidosis of gingiva and conjunctiva, with intellectual disability


kidney lipoma

description: A rare benign adipose tissue neoplasm of the kidney. It predominantly affects middle-aged females. It may originate from renal parenchymal fat or fat cells within the renal capsule. Clinical presentation includes hematuria and pain.


acute hemorrhagic leukoencephalitis

description: Acute hemorrhagic leukoencephalitis(AHL) is a veryrareform of acute disseminated encephalomyelitis that usuallyresults indeath. It is characterized by a brief but intense attack of inflammation in the brain and spinal cord that damages the myelin -- the protective covering of the nerve fibers. It may also cause bleeding in the brain, leading to damage of the white matter. Symptoms usually come on quickly, beginning with symptoms such as fever, neck stiffness, fatigue, headache, nausea vomiting,seizures, and coma.AHL has a very poor prognosis, with rapid deterioration and death usually occurring within days to one week after onset of symptoms because of severe inflammation in the brain. Although the exact cause is unclear,AHL usually followsaviral infection, or less often, vaccination for measles, mumps, or rubella. Some researchers think that an infection or vaccination can initiate an autoimmune process in the body thus leading to AHL.


name: neurodevelopmental disorder with hypotonia and brain abnormalities


mosaic trisomy 7

description: Mosaic trisomy 7 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, mostly characterized by blaschkolinear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (e.g. frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears, and micrognathia), and genital anomalies (e.g. undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported.


name: ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3

description: Any EEC syndrome in which the cause of the disease is a mutation in the TP63 gene.


familial primary hypomagnesemia

description: A hereditary disorder that leads to a selective defect in renal or intestinal magnesium absorption, resulting in a low serum magnesium concentration.


proliferating trichilemmal cyst

description: Proliferating trichilemmal tumor is a rare large, multinodular, usually benign, tumor that is generally located in the posterior part of the scalp in aged women (over 50 years). It first appears as a painless nodule that later grows into a solid or partially cystic tumor that is mobile over the underlying subcutaneous tissues. It can present ulceration, inflammation or even bleeding and can cause necrosis of the adjacent tissues.


name: amelogenesis imperfecta hypomaturation type 2A5

description: Any amelogenesis imperfecta in which the cause of the disease is a mutation in the SLC24A4 gene.


gonadal tissue neoplasm

description: Neoplasms composed of tissues of the ovary or the testis, not neoplasms located in the ovaries or testes. Gonadal tissues include germ cells, cells from the sex cord, and gonadal stromal cells.


Aloi Tomasini Isaia syndrome

description: A syndrome characterized by a unilateral linear basal cell nevus, diffuse osteoma cutis, unilateral anodontia (missing teeth), and abnormal bone mineralization. This is an n-of-1 use case where only one patient or family has been described with this disorder.


name: platelet responsiveness to adrenaline, depressed


name: degeneration of macula and posterior pole


name: congenital hypothyroidism, non-human animal

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


name: skin disease caused by bacterial infection

description: Skin diseases caused by bacteria.


leukodystrophy, sheep

description: Leukodystrophy that occurs in sheep.


name: microcephaly 4, primary, autosomal recessive


complex sleep apnea

description: A distinct form of sleep-disordered breathing characterized as central sleep apnea (CSA), and presents in obstructive sleep apnea (OSA) patients during initial treatment with a continuous positive airway pressure (CPAP) device.


name: seborrhea-like dermatitis with psoriasiform elements


pulmonary hypertension, neonatal

description: Abnormally high blood pressure in a newborn child.


childhood medulloblastoma

description: A medulloblastoma occurring in children.


name: X-linked recessive mitochondrial myopathy

description: A mitochondrial myopathy caused by defects in the MICOS subunit gene APOO (MIC26). Modelling in yeast and flies demonstrate an inability to insert MICOS complex into the inner mitohondrial membrane. Associated symptoms include, lactic acidosis, cognitive impairment and autistic features.


Lyell syndrome

description: Lyell syndrome is an extended form of toxic epidermal necrolysis characterized by destruction and detachment of the skin epithelium and mucous membranes involving more than 30% of the body surface area.


name: cleft palate with or without ankyloglossia, X-linked

description: X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported.


name: intellectual disability, autosomal recessive 59

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the IMPA1 gene.


annular constricting bands

description: A syndrome characterized by congenital constriction bands, often deformity of the nails with distally located bands, and commonly a malformation of the hand.


Darier disease

description: Darier disease (DD) is a keratinization disorder characterized by the development of keratotic papules in seborrheic areas and specific nail anomalies.


name: neurodevelopmental disorder with or without variable movement or behavioral abnormalities


description: Infantile epileptic-dyskinetic encephalopathy is a monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability.


congenital pseudomyotonia, cattle

description: Congenital pseudomyotonia that occurs in cattle.


self-healing collodion baby

description: Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life.


benign vaginal mixed tumor

description: A non-metastasizing, well circumscribed neoplasm that arises from the vagina and is characterized by the presence of a predominant benign mesenchymal component and benign glandular or squamous epithelial cells.


name: isolated growth hormone deficiency, type 4


name: peripheral motor neuropathy-dysautonomia syndrome

description: Peripheral motor neuropathy-dysautonomia syndrome is characterized by distal, slowly progressive muscular weakness, childhood-onset amyotrophy, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal achalasia. It has been described in two sisters. Inheritance appears to be autosomal recessive.


Catel-Manzke syndrome

description: Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis.


name: linear skin defects with multiple congenital anomalies 3

description: Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the NDUFB11 gene.


metaphyseal anadysplasia 2

description: Any metaphyseal anadysplasia in which the cause of the disease is a mutation in the MMP9 gene.


Joubert syndrome 25

description: Any Joubert syndrome in which the cause of the disease is a mutation in the CEP104 gene.


cervical alveolar soft part sarcoma

description: An alveolar soft part sarcoma arising from the cervix.


focal myositis

description: Focal myositis is a rare inflammatory myopathy characterized by a localized swelling of skeletal muscle that is usually located in the lower extremities.


benign neoplasm of renal pelvis

description: A benign neoplasm that involves the renal pelvis.


classic pyoderma gangrenosum

description: A rare subtype of pyoderma gangrenosum disease characterized by rapidly progressive, single or multiple, painful, aseptic ulcers which present overhanging, violaceous and undermined borders, surrounding induration and erythema, and granulation tissue (occasionally necrotic tissue and/or a purulent exudate) at the base, mainly affecting the legs (but other body surfaces may also be involved), leading to chronic ulcerations and often regressing with cribriform mutilating scars. The disease presents a chronic relapsing course and systemic features (e.g. fever, malaise, arthralgia, myalgia) may be associated.


name: muscular dystrophy-dystroglycanopathy, type B