prediabetes syndrome

description: A condition in which blood glucose levels are high, but not high enough to be classified as type 2 diabetes.


chronic monocytic leukemia

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

description: Form of leukemia characterized by an uncontrolled proliferation of the myeloid lineage and their precursors (myeloid progenitor cells) in the bone marrow and other sites.


Marburg acute multiple sclerosis

description: Marburg acute multiple sclerosis is a rare variant of multiple sclerosis characterized by a rapidly progressive, aggressive form of multiple sclerosis with numerous large multifocal demyelinating lesions in deep white matter on cerebral MRI that usually leads to severe disability or death within weeks to months without remission. A relapsing form of multiple sclerosis is observed in surviving patients.


name: microcephaly 25, primary, autosomal recessive


gastrointestinal anthrax

description: An anthrax disease that results in infection located in mucosa of gastrointestinal tract, has material basis in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite.


name: peroxisome biogenesis disorder due to PEX13 defect

description: Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX13 gene.


Marfan syndrome, cattle

description: Marfan syndrome that occurs in cattle.


van den Ende-Gupta syndrome

description: Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.


name: carnitine palmitoyl transferase II deficiency, myopathic form

description: The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency.


name: partial trisomy/tetrasomy of chromosome 18

description: A chromosomal disorder characterized by the presence of extra copy/copies of part of chromosome 18.


PLA2G6-associated neurodegeneration

description: Any neurodegeneration with brain iron accumulation in which the cause of the disease is a mutation in the PLA2G6 gene.


citrullinemia type I

description: Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I) and by variable hyperammonemia in the later-onset form (adult-onset citrullinemia type I).


malignant atrophic papulosis

description: Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal.


name: neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies


name: neurodegeneration with brain iron accumulation

description: Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system.


CEDNIK syndrome

description: CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.


name: autosomal dominant medullary cystic kidney disease with or without hyperuricemia

description: A genetic kidney disease that causes progressive loss of kidney function caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), or mucin-1 (MUC1).


hypoparathyroidism, non-human animal

description: Hypoparathyroidism that occurs in non-human animals.


immunodeficiency 49

description: Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL11B gene.


description: Renin-angiotensin-aldosterone system (RAAS)-blocker induced angioedema (RAE) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.


name: nasopharyngeal carcinoma, susceptibility to, 3

description: Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the MST1R gene.


myopathy of extraocular muscle

description: A myopathy that involves the extra-ocular muscle.


intellectual disability, X-linked 90

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the DLG3 gene.


achondrogenesis type II

description: Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.


sacral nerve plexus disorder

description: A disease that involves the sacral nerve plexus.


digitalis poisoning

description: Digitalis (digoxin) poisoning is a potentially life-threatening poisoning that provokes conduction disturbances, characterized by increased automaticity and decreased conduction. Acute poisoning presents with the common initial manifestations of nausea and vomiting, cardiovascular manifestations (bradycardia, heart block and a variety of dysrhythmias), central nervous system manifestations (lethargy, confusion and weakness) and hyperkalemia. Chronic poisoning is more insidious, manifesting with gastrointestinal symptoms, altered mental status, and visual disturbances.


name: Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome

description: A sub-phenotype of WAGR that includes obesity, and is associated with mutation(s) in the BDNF gene.


heavy chain disease

description: Heavy-chain diseases (HCDs) are rare monoclonal lymphoplasma-cell proliferative disorders involving B cells and are characterized by the synthesis of truncated heavy chains without associated light chains.


c8 deficiency, rabbit

description: C8 deficiency that occurs in rabbit.


name: autosomal dominant Ehlers-Danlos syndrome, vascular type

description: The autosomal dominant form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported.


name: brain dopamine-serotonin vesicular transport disease

description: An infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.


goat disease

description: Diseases of the domestic or wild goat of the genus Capra.


chicken monocytic leukemia

description: Monocytic leukemia that occurs in a chicken.


gingival hypertrophy, dog

description: Gingival hypertrophy that occurs in dog.


spinocerebellar ataxia type 42

description: An autosomal dominant form of spinocerebellar ataxia caused by mutation(s) in the CACNA1G gene, encoding voltage-dependent T-type calcium channel subunit alpha-1G.


disseminated candidiasis

description: Systemic candidiasis occurs when Candida yeast enters the bloodstream and may spread (becoming disseminated candidiasis) to other organs, including the central nervous system, kidneys, liver, bones, muscles, joints, spleen, or eyes.


dehydrated hereditary stomatocytosis

description: Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed.


Al-Gazali syndrome

description: An autosomal recessive syndrome characterized by joint contractures, skeletal abnormalities, anterior segment anomalies of the eye and early lethality.


primary cerebellar degeneration

description: A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked.


name: congenital stationary night blindness autosomal dominant 1

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


superior vena cava angiosarcoma

description: A malignant vascular neoplasm arising from the superior vena cava.


name: developmental and epileptic encephalopathy, 31

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DNM1 gene.


chronic polyneuropathy

description: Polyneuropathy that is persistent or long-standing in nature.


ATP1A3-associated neurological disorder

description: Any neurological disorder in which the cause of the disease is a mutation in the ATP1A3.


name: juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome


name: fatal multiple mitochondrial dysfunctions syndrome

description: Multiple mitochondrial dysfunctions syndrome describes a group of rare inborn errors of energy metabolism due to defects in mitochondrial [4Fe-4S] protein assembly. Patients present with a neonatal/infancy onset of metabolic lactic acidosis (that may be associated with hyperglycinemia and other abnormal metabolic testing results), muscular hypotonia, absence of psychomotor development or developmental regression, as well as abnormal neuroimaging findings (including leukodystrophy, brain developmental defects, white matter abnormalities, cerebral atrophy), and other variable clinical features (e.g., optic atrophy, cardiomyopathy, pulmonary hypertension, seizures, and dysmorphic features). Early fatal outcome is usual.


name: pituitary dwarfism with large sella turcica


name: hypogonadotropic hypogonadism 16 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SEMA3A gene.


intracranial embolism

description: Blocking of a blood vessel in the skull by an embolus which can be a blood clot (thrombus) or other undissolved material in the blood stream. Most emboli are of cardiac origin and are associated with heart diseases. Other non-cardiac sources of emboli are usually associated with vascular diseases.


ectomesenchymoma

description: An aggressive malignant mesenchymal neoplasm of the nervous system or soft tissues. It is characterized by the presence of a sarcomatous component (most often rhabdomyosarcoma) and a ganglionic or a neuroectodermal component.


Niemann-Pick disease type A

description: Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders.


diabetes mellitus, koala

description: Diabetes mellitus that occurs in koala.


name: autosomal dominant nonsyndromic hearing loss 33

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 13q34.


Balint syndrome

description: Balint syndrome is a rare neurologic disease characterized by the triad of optic ataxia, ocular apraxia and simultanagnosia due to posterior parietal lobe lesions. Patients report ophthalmologic difficulties in the absence of underlying ophthalomologic anomalies and present severe visual and spatial disabilities in locating and reaching objects, initiating voluntary eye movements and perceiving more than one object at a time.


Meckel syndrome, type 4

description: Any Meckel syndrome in which the cause of the disease is a mutation in the CEP290 gene.


name: syndromic X-linked intellectual disability 17

description: Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals.


posterior amorphous corneal dystrophy

description: Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision.


name: osteochondritis of tarsal/metatarsal bone

description: A rare bone disease characterized by avascular necrosis of the navicular bone in children. Patients present with sudden unexplained foot pain, inability to bear weight, and limping. Radiographic features include flattening, fragmentation, and patchy sclerosis of the navicular bone. Soft tissue swelling may be associated. The condition is most commonly unilateral and self-limiting. Boys are more often affected than girls.


name: Charcot-Marie-Tooth disease dominant intermediate B

description: Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.


spermatogenic failure 17

description: Any azoospermia in which the cause of the disease is a mutation in the PLCZ1 gene.


ossifying fibromyxoid tumor

description: A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. The lesions are associated with the formation of metaplastic bone. Most patients present with painless subcutaneous masses. Recurrences have been reported in a minority of patients.


name: neurodevelopmental disorder with midbrain and hindbrain malformations


name: neurodegeneration with ataxia and late-onset optic atrophy


myopathy, non-human animal

description: Myopathy that occurs in non-human animals.


ulceroglandular tularemia

description: A tularemia that results in painful regional lymphadenopathy and an ulcerated skin lesion.


name: mitochondrial complex 4 deficiency, nuclear type 21


description: Circumscribed palmoplantar hypokeratosis is an ectodermal dysplasia characterized by circular, well-circumscribed patches of erythematous depressed skin.


name: spastic paraplegia, ataxia, and intellectual disability


Kikuchi-Fujimoto disease

description: Kikuchi-Fujimoto disease (KFD) is a benign and self-limited disorder, characterized by regional cervical lymphadenopathy with tenderness, usually accompanied with mild fever and night sweats. Less frequent symptoms include weight loss, nausea, vomiting, sore throat.


congenital myasthenic syndrome 9

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


retinitis pigmentosa 59

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


uvulitis

description: Inflammation of the uvula.


name: medium/large size posterior uveal melanoma

description: Ciliary body and choroid melanoma measuring between 2.5 mm and 10 mm in height and 16 mm or less in basal diameter (medium-sized) or more than 10 mm in height or more than 2 mm in height and more than 16 mm in basal diameter or more than 8 mm in height with optic nerve involvement (large-sized). (Collaborative Ocular Melanoma Study)


name: mitochondrial complex 1 deficiency, nuclear type 2


name: infundibulopelvic stenosis-multicystic kidney syndrome

description: Infundibulopelvic stenosis-multicystic kidney syndrome is a rare, genetic renal malformation syndrome characterized by variable degrees of malformation in the pelvicalyceal system (including unilateral or bilateral calyceal dilatation, infundibular stenosis, hypoplasia or stenosis of the renal pelvis) which lead to multicystic kidney. Clinically it exhibits abdominal, lumbar or flank pain, recurrent urinary tract infections, hypertension, proteinuria and often progresses to renal insufficiency. Calyceal dilatation and hydronephrosis are frequently seen on imaging.


hereditary spastic paraplegia 26

description: A rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1.


name: developmental and epileptic encephalopathy 115


Marinesco-Sjogren-like syndrome

description: A disease with similar features to Marinesco-Sjogren syndrome.


cerebral cavernous malformation 2

description: Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the CCM2 gene.


sarcoma of cervix uteri

description: A sarcoma involving a uterine cervix.


antisynthetase syndrome

description: Antisynthetase (AS) syndrome is a clinically heterogeneous form of idiopathic inflammatory myopathy characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease (ILD), and serum autoantibodies to aminoacyl transfer RNA synthetases (anti-ARS).


name: chronic inflammatory demyelinating polyradiculoneuropathy

description: A rare neurological disorder in which there is inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) over the nerves. This affects how fast the nerve signals are transmitted and leads to loss of nerve fibers. This causes weakness, paralysis and/or impairment in motor function, especially of the arms and legs (limbs). Sensory disturbance may also be present. The motor and sensory impairments usually affect both sides of the body (symmetrical), and the degree of severity and the course of disease may vary from case to case. Some affected individuals may follow a slow steady pattern of symptoms while others may have symptoms that stabilize and then relapse.


enhanced S-cone syndrome

description: An autosomal recessive retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones. Characteristics include visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration.


name: cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome


adult brain stem neoplasm

description: A brainstem neoplasm that occurs in an adult.


name: human T-lymphotropic virus 1 infectious disease

description: A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has material basis in Human T-lymphotropic virus 1, which is transmitted by sexual contact, transmitted by contaminated needles used by intravenous-drug users, and transmitted by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder.


azoospermia, horse

description: Azoospermia that occurs in horse.


name: dystrophic epidermolysis bullosa pruriginosa

description: Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus.


smoldering plasma cell myeloma

description: A plasma cell myeloma lacking clinical manifestations and organ impairment.


endometrial stromal nodule

description: A non-infiltrating, benign mesenchymal neoplasm arising from the uterine corpus. It is characterized by the presence of neoplastic cells that resemble the cells of the proliferative phase of endometrial stroma and numerous thin-walled small vessels. It usually presents with abnormal uterine bleeding and menorrhagia.


name: intellectual disability, autosomal dominant 46


rheumatic fever

description: A post-bacterial multisystem inflammatory disease occurring as a post-infectious, nonsuppurative sequela of untreated streptococcus pyogenes (Group A streptococcus [GAS]) pharyngitis, and mainly occurs in individuals aged 5 to 15 years. The most common presenting signs are fever, migratory polyarthritis and carditis.


hepatic encephalopathy, dog

description: Hepatic encephalopathy that occurs in dog.


name: microcephaly, corpus callosum dysgenesis, and cleft lip/palate


Imerslund-Grasbeck syndrome type 2

description: An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but usually occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Treatment with vitamin B12 results in sustained clinical improvement of the anemia. The proteinuria is nonprogressive, and affected individuals do not have deterioration of kidney function; correct diagnosis is important to prevent unnecessary treatment. The disorder results from a combination of vitamin B12 deficiency due to selective malabsorption of the vitamin, and impaired reabsorption of LMW proteins in the proximal renal tubule. These defects are caused by disruption of the AMN/CUBN complex that forms the 'cubam' receptor responsible for intestinal uptake of B12/GIF (CBLIF).


name: neuropathy, congenital, with arthrogryposis multiplex


name: macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

description: A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterized by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behavior, and café-au-lait spots, among others.


chylomicron retention disease

description: Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications.


nasopharyngeal disorder

description: A non-neoplastic or neoplastic disorder that affects the nasopharynx. Representative examples include nasopharyngitis, angiofibroma, and carcinoma.


name: chondrocalcinosis due to apatite crystal deposition


self-healing papular mucinosis

description: Self-healing papular mucinosis is a rare form of localized lichen myxedematosus occurring primarily in children and characterized by the development of mucinous papules on various parts of the body (face, neck, trunk, and limbs) that resolve spontaneously within some weeks to months. Systemic symptoms can be observed such as fever, arthralgias and weakness.


mature cataract

description: A cataract that produces swelling and opacity of the entire lens; cataracts are removed before maturity.


aplasia cutis congenita dominant

description: Aplasia cutis congenita with with autosomal dominant inheritance with reduced penetrance.


name: autosomal recessive congenital ichthyosis

description: Autosomal recessive form of inherited ichthyosis.


testicular pure germ cell tumor

description: A germ cell tumor that arises from the testis and is characterized by the presence of one histologic component. This category includes seminoma, teratoma, embryonal carcinoma, yolk sac tumor, and trophoblastic tumor.


skeletal ligament disorder

description: A disease or disorder that involves the skeletal ligament.


chronic congestive splenomegaly

description: Chronic form of congestive splenomegaly.


hyperostosis corticalis generalisata

description: Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies.


name: developmental and epileptic encephalopathy, 32

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNA2 gene.


name: encephalopathy, progressive, with amyotrophy and optic atrophy


name: congenital generalized hypercontractile muscle stiffness syndrome


name: spondyloepimetaphyseal dysplasia, Handigodu type

description: A rare, genetic, primary bone dysplasia characterized by three distinct phenotypes, namely: 1) patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities, 2) short-statured patients with predominantly truncal shortening, arm span exceeding height, dyspalstic changes of hips and varying degrees of platyspondyly, and 3) patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces and sclerotic and cystic changes on imaging.


renal hypertension

description: Hypertension caused by the kidney's hormonal response to narrowing or occlusion of the renal arteries.


female reproductive organ cancer

description: A primary or metastatic malignant neoplasm involving the female reproductive system. Representative examples include endometrial carcinoma, cervical carcinoma, ovarian carcinoma, uterine corpus leiomyosarcoma, adenosarcoma, malignant mixed mesodermal (mullerian) tumor, and gestational choriocarcinoma.


name: microcephaly 3, primary, autosomal recessive

description: Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK5RAP2 gene.


disorder of magnesium transport

description: An inherited metabolic disease that is has its basis in the disruption of magnesium ion transport.


name: colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome


name: chondrodysplasia punctata, Toriello type

description: Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported.


integumentary system benign neoplasm

description: A benign neoplasm that involves the integumental system.


name: trigonocephaly-short stature-developmental delay syndrome

description: A syndrome characterized by short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other two patients displayed psychomotor retardation. X-linked transmission has been suggested but autosomal recessive inheritance can not be ruled out.


name: hereditary motor and sensory neuropathy with acrodystrophy

description: A rare axonal hereditary motor and sensory neuropathy characterized by progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999.


3-M syndrome

description: 3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.


Hennekam-Beemer syndrome

description: Hennekam-Beemer syndrome is characterized by the association of skin mastocytosis (appearing as diffuse pigmentation), short stature, microcephaly, conductive hearing loss, and dysmorphic features. It has been described in only two (female) cases: one with normal mental development born to consanguineous parents and the other with severe psychomotor retardation born to unrelated parents. The mode of inheritance is most likely autosomal recessive.


name: muscular dystrophy, limb-girdle, autosomal dominant

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


ophthalmia neonatorum

description: Inflammation of the conjunctiva in a newborn due to chemical or infectious causes. Aseptic conjunctivitis is often related to the use of prophylactic medications for infectious conjunctivitis. Septic conjunctivitis is related to perinatal exposure to microorganisms.


oromandibular-limb hypogenesis syndrome

description: Oromandibular-limb hypogenesis syndromes (OLHS) are a group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) characterized by the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies).


craniosynostosis, Herrmann-Opitz type

description: Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterized by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (incl. syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987.


name: cancer or benign tumor, non-human animal

description: Cancer or benign tumor that occurs in non-human animals.


larynx liposarcoma

description: A rare malignant adipose tissue neoplasm of the larynx. It predominantly affects males. Clinical presentation includes dysphonia, dysphagia and respiratory symptoms. The supraglottis is the most common site of involvement.


name: neurodevelopmental disorder with structural brain anomalies and dysmorphic facies


auditory system disorder

description: A disease involving the auditory system.


name: palmoplantar keratoderma, punctate type ib


Bonnemann-Meinecke-Reich syndrome

description: Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991.


nabothian cyst

description: A benign, mucus-filled cervical cyst that occurs when mucus-secreting columnar epithelial cells are covered with squamous epithelium.


benign choroid plexus neoplasm

description: A neoplasm that arises from the choroid plexus and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.


prostatic urethral cancer

description: A male urethral cancer that involves the prostatic urethra.


description: An inherited metabolic disease that is has its basis in the disruption of thiopurine S-methyltransferase activity.


posterolateral myocardial infarction

description: An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the posterolateral wall of the heart.


description: Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder.


name: cutis verticis gyrata and intellectual disability


name: punctate palmoplantar keratoderma type III

description: Acrokeratoelastoidosis of Costa is a rare dermatosis characterized by small, firm papules or plaques (resembling warts) on the sides of the hands and feet. These stationary and asymptomatic lesions appear generally at puberty, or sometimes later


Zygomycosis

description: Any infection due to a fungus of the Zygomycota phylum. The disease typically involves the rhino-facial-cranial area, lungs, gastrointestinal tract, skin, or less commonly other organ systems. The infecting fungi have a predilection for invading vessels of the arterial system, causing embolization and subsequent necrosis of surrounding tissue.


name: arthrogryposis, renal dysfunction, and cholestasis 1

description: Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VPS33B gene.


bulbospinal polio

description: A paralytic poliomyelitis in which the site of paralysis is the bulbospinal tract.


primary viral infectious disease

description: The initial viral infectious disase that causes illness.


distal trisomy 16q

description: Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (incl. high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported.


name: sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome


acromegaly, domestic cat

description: Acromegaly that occurs in domestic cat.


AA amyloidosis, island gray fox

description: AA amyloidosis that occurs in island gray fox.


Nager acrofacial dysostosis

description: Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.


name: central centrifugal cicatricial alopecia


torovirus infectious disease

description: Infections with viruses of the genus torovirus, family coronaviridae.


lentivirus infection

description: Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection.


renal hypoplasia, unilateral

description: Unilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which one kidney is small and has a deficit in the number of nephrons present.


intellectual disability, X-linked 99

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP9X gene.


Aicardi-Goutieres syndrome 4

description: Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2A gene.


cyclosporiasis

description: A protozoan infection that is caused by Cyclospora cayetanensis, which is most commonly acquired from contaminated food or water, and which is characterized by watery diarrhea and abdominal pain.


name: congenital complete agenesis of pericardium

description: Congenital complete agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation characterized by the complete absence of the entire pericardium, or by the absence of either the right (uncommon) or left pericardium. It is occasionally associated with chest pain (common), dyspnea, dizziness, bradycardia and syncope, while exertional manifestations are rare. The disease is usually incidentally diagnosed during surgery or at autopsy.


exostosis, Dupuytren subungual

description: A benign tumor that affects the distal phalanx, most often the great toe. Grossly it consists of a cartilage cap and a bony stalk. Microscopically it is characterized by an osteochondromatous proliferation with a gradual transition of a peripheral spindle-cell proliferation to hyaline cartilage to trabecular bone. Pain and swelling are present. Simple resection is usually curative.


name: autoimmune encephalopathy with parasomnia and obstructive sleep apnea

description: Autoimmune encephalopathy with parasomnia and obstructive sleep apnea is a rare neurologic disorder characterized by a unique non-REM and REM parasomnia with sleep breathing dysfunction, gait instability and repetitive episodes of respiratory insufficiency, as well as autoantibodies against IgLON5. Patients may present stridor, chorea, limb ataxia, abnormal ocular movements, and bulbar symptoms (i.e. dysphagia, dysarthria, episodic central hypoventilation) with normal brain MRI. Excessive day sleepiness and cognitive deterioration have also been reported.


name: palmoplantar keratoderma, Nagashima type

description: Keratosis, Nagashima-type is a transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda.


Lisch epithelial corneal dystrophy

description: Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision.


name: autosomal recessive nonsyndromic hearing loss 70

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PNPT1 gene.


description: Familial digital arthropathy-brachydactyly is characterized by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant.


Wilson disease, sheep

description: Wilson disease that occurs in sheep.


name: cellular phase chronic idiopathic myelofibrosis

description: Primary myelofibrosis characterized by bone marrow hypercellularity and the presence of atypical megakaryocytes. There is no increase in the percentage of myeloblasts and no significant increase in reticulin or collagen fibrosis in the bone marrow.


C1q nephropathy

description: C1q nephropathy is a kidney disease in which a large amount of protein is lost in the urine. It is one of the many diseases that can cause the nephrotic syndrome.


erythema multiforme

description: Erythema multiforme (EM) refers to a group ofhypersensitivity disorders characterized by symmetric red, patchy lesions, primarily on the arms and legs. The cause is unknown, but EM frequently occurs in association with herpes simplex virus, suggesting an immunologic process initiated by the virus. In half of the cases, the triggering agents appear to be medications, including anticonvulsants, sulfonamides, nonsteroidal anti-inflammatory drugs, and other antibiotics. In addition, some cases appear to be associated with infectious organisms such as Mycoplasma pneumoniae and many viral agents. Erythema multiforme is the mildest of three skin disorders that are often discussed in relation to each other. It is generally the mildest of the three. More severe is Stevens-Johnson syndrome. The most severe of the three is toxic epidermal necrolysis (TEN).


cancer of long bone of upper limb

description: A cancer that involves the upper limb long bone.


description: Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance.


name: catecholaminergic polymorphic ventricular tachycardia

description: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death.


name: hantavirus hemorrhagic fever with renal syndrome

description: A disorder caused by hantaviruses of the family Bunyaviridae. It is transmitted by rodents and is manifested with fever, hemorrhage, and renal failure. Other symptoms include headaches, abdominal and back pain, and blurred vision.


name: congenital neuronal ceroid lipofuscinosis

description: Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy.


description: Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegally.


malignant tenosynovial giant cell tumor

description: An uncommon malignant tumor arising from the tendon sheath. Morphologically, it is characterized by the presence of a cellular infiltrate reminiscent of a giant cell tumor with prominent malignant characteristics. Recurrent giant cell tumors with a sarcomatous dedifferentiation are included in this category as well.


name: GTP cyclohydrolase I deficiency with hyperphenylalaninemia

description: An autosomal recessive condition caused by mutation(s) in the GCH1 gene, encoding GTP cyclohydrolase 1. It is characterized by hyperphenylalaninemia and GTP cyclohydrolase 1-deficient dopa-responsive dystonia.


name: acute myeloid leukemia, t(16;16)(p13.1;q22)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(16;16)(p13.1;q22). (A chromosomal translocation that involves chromosome 16. It is often associated with the development of acute myeloid leukemia CBFB-MYH11, acute myelomonocytic leukemia with abnormal eosinophils, and granulocytic sarcoma.)


name: intellectual disability, X-linked, syndromic, Houge type


name: vertebral anomalies and variable endocrine and T-cell dysfunction


name: autosomal dominant optic atrophy and peripheral neuropathy

description: Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance.


nephronophthisis-like nephropathy 1

description: Any nephronophthisis in which the cause of the disease is a mutation in the XPNPEP3 gene.


paroxysmal Hemicrania

description: Paroxysmal hemicrania (PH) is a primary headache disorder characterized by multiple attacks of unilateral pain that occur in association with cranial autonomic symptoms. The hallmarks of this syndrome are the relative shortness of the attacks and the complete response to indomethacin therapy.


name: tooth agenesis, selective, with orofacial cleft


description: Virus-associated trichodysplasia spinulosa is a rare infectious skin disease characterized by the development of follicular papules with keratin spicules in various parts of the body, predominantly in the face (e.g. nose, eyebrows, auricles), that is due to polyomavirus infection in immunocompromized patients.


name: autosomal recessive nonsyndromic hearing loss 18A

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the USH1C gene.


name: autosomal recessive nonsyndromic hearing loss 89

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


name: Gaucher disease due to saposin C deficiency

description: Any Gaucher disease in which the cause of the disease is a mutation in the PSAP gene.


name: mitochondrial trifunctional protein deficiency 2


name: congenital stationary night blindness autosomal dominant 2

description: Any congenital stationary night blindness in which the cause of the disease is a mutation in the PDE6B gene.


name: autosomal recessive combined immunodeficiency due to complete IL6ST deficiency


name: multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome


name: neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies


microtia, non-human animal

description: Microtia that occurs in non-human animals.


undifferentiated pleomorphic sarcoma

description: An undifferentiated soft tissue sarcoma characterized by the presence of a pleomorphic malignant cellular infiltrate. It is also known as malignant fibrous histiocytoma.


retinitis pigmentosa 6

description: A retinitis pigmentosa that has material basis in variation in the chromosome region Xp21.3-p21.2.


freemartinism

description: A condition occurring in the female offspring of dizygotic twins (twin, dizygotic) in a mixed-sex pregnancy, usually in cattle. Freemartinism can occur in other mammals. When placental fusion between the male and the female fetuses permits the exchange of fetal cells and fetal hormones, testicular hormones from the male fetus can androgenize the female fetus producing a sterile xx/xy chimeric 'female'(chimerism).


name: dystrophies primarily involving the retinal pigment epithelium


name: Strongylida infectious disease, non-human animal

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


name: frontonasal dysplasia-bifid nose-upper limb anomalies syndrome

description: A rare syndromic frontonasal dysplasia characterized by distinctive facial dysmorphic features including hypertelorism, almond-shaped palpebral fissures, nasal deformity with creased ridge, depressed or absent tip, and asymmetry and partial absence of nasal bones, and downturned corners of the mouth. Additional reported manifestations are limb anomalies (e. g. Poland anomaly, transverse limb agenesis, and anomalies of the hands and feet, such as camptodactyly, oligodactyly, clinodactyly, and syndactyly), frontonasal encephalocele, choanal atresia, congenital renal/cardiac malformations, and corpus callosum agenesis.


spleen neoplasm

description: A benign or malignant neoplasm that affects the spleen. Representative examples include hemangioma, lymphoma, splenic involvement by leukemia, and angiosarcoma.


dog disease

description: Diseases of the domestic dog (Canis familiaris). This term does not include diseases of wild dogs, wolves; foxes; and other Canidae for which the heading carnivora is used.


Upington disease

description: Upington disease is characterized by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant.


name: mandibuloacral dysplasia progeroid syndrome


paroxysmal nocturnal hemoglobinuria 1

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


Langer mesomelic dysplasia

description: Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs.


name: XYLT1-congenital disorder of glycosylation


description: Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S).


description: Microcornea-corectopia-macular hypoplasia syndrome is characterized by microcornea, which may also be accompanied by corectopia and macular hypoplasia. It has been described in three individuals from two successive generations of one family.


autoimmune optic neuritis

description: An autoimmune form of optic neuritis.


name: factor XII deficiency, common bottlenose dolphin

description: Factor XII deficiency that occurs in common bottlenose dolphin.


name: microcephalic osteodysplastic primordial dwarfism type II

description: A form of microcephalic primordial dwarfism (MPD) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.


name: aniridia-cerebellar ataxia-intellectual disability syndrome

description: Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.


cardiovascular organ benign neoplasm

description: A benign neoplasm that involves the cardiovascular system.


name: combined immunodeficiency due to moesin deficiency


aggressive systemic mastocytosis

description: Aggressive systemic mastocytosis (ASM) is a severe and rare form of systemic mastocytosis (SM) characterized by considerable infiltration of mast cells in different tissues.


rheumatoid arthritis, non-human animal

description: Rheumatoid arthritis that occurs in non-human animals.


Stern-Lubinsky-Durrie syndrome

description: Stern-Lubinsky-Durrie syndrome is characterized by corneal epithelial changes (associated with photophobia and burning and watering of the eyes), diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, dental problems, and premature birth. It has been described in seven individuals from three generations of one family. It is transmitted as an autosomal dominant trait.


heterotaxy, visceral, 1, X-linked

description: X-linked visceral heterotaxy type 1 is a very rare form of heterotaxy that has only been reported in a few families. Heterotaxy is the right/left transposition of thoracic and/or abdominal organs. This condition is caused by mutations in the ZIC3 gene, is inherited in an X-linked recessive fashion, and is usually seen in males. Physical features include heart abnormalities such as dextrocardia, transposition of great vessels, ventricular septal defect, patent ductus arteriosus, pulmonic stenosis ; situs inversus, and missing (asplenia) and/or extra spleens (polysplenia).Affected individualscan also experience abnormalities in the development of the midline of the body, which can cause holoprosencephaly, myelomeningocele, urological anomalies, widely spaced eyes (hypertelorism), cleft palate, and abnormalities of the sacral spine and anus. Heterotaxia with recurrent respiratory infections are called primary ciliary dyskinesia.


name: spastic paraplegia 70, autosomal recessive


name: angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert


hereditary glaucoma

description: Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities.


holoprosencephaly, non-human animal

description: Holoprosencephaly that occurs in non-human animals.


name: brain abnormalities, neurodegeneration, and dysosteosclerosis


osteogenesis imperfecta type 1

description: Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures.


aleukemic leukemia cutis

description: Infiltration of the skin and subcutaneous tissue by leukemic cells without evidence of leukemia in the bone marrow and peripheral blood. It results in clinically identifiable skin lesions. It may be the first manifestation of acute leukemia, preceding the involvement of the bone marrow and peripheral blood by the leukemic process.


name: agammaglobulinemia 5, autosomal dominant

description: Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the LRRC8A gene.


name: skeletal dysplasia-intellectual disability syndrome

description: Skeletal dysplasia-intellectual disability syndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has been described in four male cousins in three sibships. Glucose intolerance was present in three cases, and imperforated anus in one case. Carrier females had minor manifestations (fusion of cervical vertebrae and glucose intolerance). Transmission seems to be X-linked.


internal hemorrhoid

description: A hemorrhoid which originates above the dentate line.


chondrogenic neoplasm

description: A benign, intermediate, or malignant cartilaginous matrix-producing neoplasm. Representative examples include osteochondroma, chondroblastoma, and chondrosarcoma.


name: tumoral calcinosis, hyperphosphatemic, familial, 1


reflex epilepsy

description: Reflex epilepsy refers to epilepsies where recurrent seizures are provoked by a clearly defined extrinsic (most commonly) or intrinsic triggering stimuli such as flashing lights (photosensitive epilepsy), startling noises (startle epilepsy), urinating (micturition induced seizures), exposure to hot-water (hot water epilepsy), eating, reading, and thinking, while being associated with an enduring abnormal predisposition to have such seizures (thereby meeting the conceptual definition of epilepsy).


name: inflammatory bowel disease-recurrent sinopulmonary infections syndrome


name: intellectual developmental disorder, autosomal dominant 66


Langerhans cell histiocytosis

description: Langerhans cell histiocytosis (LCH) is a systemic disease associated with the proliferation and accumulation (usually in granulomas) of Langerhans cells in various tissues.


intraorbital meningioma

description: A meningioma that affects the intraorbital structures.


idiopathic recurrent stupor

description: Idiopathic recurrent stupor is a rare neurologic disease characterized by unpredictable, transient and spontaneous unresponsiveness lasting from hours to days, with a frequency of three to seven attacks per year, in the absence of readily discernible toxic, metabolic or structural causes.


name: foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome


infection caused by Bifidobacterium

description: A disease caused by infection with Bifidobacterium.


Tietze syndrome

description: Idiopathic painful nonsuppurative swellings of one or more costal cartilages, especially of the second rib. The anterior chest pain may mimic that of coronary artery disease.


paroxysmal cold hemoglobinuria

description: Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia (AIHA), caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence of hemoglobinuria, typically after exposure to cold temperatures.


name: hypothyroidism, congenital, nongoitrous, 5

description: Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the NKX2-5 gene.


factor XII deficiency, killer whale

description: Factor XII deficiency that occurs in killer whale.


teratocarcinoma

description: A germ cell tumor characterized by the presence of an embryonal carcinoma component and a teratoma component.


hereditary spastic paraplegia 24

description: A hereditary spastic paraplegia that has material basis in variation in the chromosome region 13q14.


3q27.3 microdeletion syndrome

description: A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus.


BBS10-related ciliopathy

description: Any ciliopathy caused by variants in the BBS10 gene.


name: chromosome 1p36 deletion syndrome, proximal


anosognosia

description: An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments.


male orgasm disorder

description: Persistent delay or absence in orgasm not accounted for by a medical reason.


febrile seizures, familial, 4

description: Any febrile seizures, familial in which the cause of the disease is a mutation in the ADGRV1 gene.


name: Charcot-Marie-Tooth disease, axonal, type 2EE


name: cardiomyopathy hypogonadism metabolic anomalies


Maffucci syndrome

description: Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas.


craniosynostosis 6

description: Any craniosynostosis in which the cause of the disease is a mutation in the ZIC1 gene.


transient neonatal myasthenia gravis

description: Transient neonatal myasthenia gravis (MG) is a rare form of MG occurring in neonates born to mothers who have the disorder or specific circulating autoantibodies.


name: autosomal dominant mitochondrial myopathy with exercise intolerance


orofacial cleft 15

description: Any cleft lip/palate in which the cause of the disease is a mutation in the DLX4 gene.


name: autosomal dominant nonsyndromic hearing loss 22

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene.


name: TH-deficient progressive infantile encephalopathy

description: A tyrosine hydroxylase deficiency in which individuals are extremely sensitive to levodopa therapy. In this very severe form, treatment with levodopa is often limited by intolerable dyskinesias.


name: microphthalmia, isolated, with coloboma 9

description: Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the TENM3 gene.


name: neuropathy, hereditary sensory and autonomic, type 1C

description: A hereditary sensory and autonomic neuropathy type 1 that has material basis in heterozygous mutation in the SPTLC2 gene on chromosome 14q24.


name: disease related to solid organ transplantation

description: Disease that occurs as a consequence of immunosuppression in a recipient of a solid organ transplant, or as a consequence of the transplantation.


aquagenic palmoplantar keratoderma

description: Aquagenic syringeal acrokeratoderma is a rare condition affecting the palms of the hands. It is characterized by the appearance or worsening of a palmar eruption, following brief exposure to water. The palmar eruption is made up of small, white or shining pimples that can conjoin into plaques. The feet are unaffected. Symptoms include a burning pain and a tightening sensation in the palms, as well as too much sweating. There are two variants. Most commonly, it is a temporary and recurrent condition that appears after submersion in water, known as the bhand in the bucket sign,b that gets better within minutes to hours of drying. A less common variant is characterized by persistent lesions that are worsened after water submersion. The cause of aquagenic syringeal acrokeratoderma is unknown, but likely relates to sweating. Several studies have found that it is present in about 40% to 84% of cystic fibrosis patients and also in carriers, which suggest that it may be caused by mutations in the CFTR gene. It is more often found in young women. Besides cystic fibrosis, it is also seen in wasting (marasmus) and nephrotic syndrome and also with the use of aspirin and other drugs such as rofecoxib and celecoxib. In most cases it does not need any treatment and resolves spontaneously. When necessary, it can be treated with topical aluminum chloride or salicylic acid ointment or with tap water iontophoresis.


scrub typhus

description: Scrub typhus is a rare dust mite-borne infectious disease caused by the Orientia tsutsugamushi bacterium and characterized clinically by an eruptive fever which is potentially serious.


name: autosomal recessive hypophosphatemic rickets

description: Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth.


name: hypokalemic alkalosis, familial, with specific renal tubulopathy


name: autosomal recessive congenital ichthyosis 10

description: Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the PNPLA1 gene.


name: complex cortical dysplasia with other brain malformations 3

description: Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF2A gene.


name: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome


xeroderma pigmentosum group E

description: An autosomal recessive genetic disorder caused by mutations in the DDB2 gene. This disease exhibits the mildest degree of sun sensitivity of all xeroderma pigmentosum complementation groups, although individuals are at high risk for skin cancer.


bovine neoplasm

description: A neoplasm that occurs in cattle.


name: infection-related hemolytic uremic syndrome


name: congenital anomaly of the mitral subvalvular apparatus


mismatch repair cancer syndrome 1

description: A rare childhood cancer predisposition syndrome caused by biallelic inheritance of mutations in MLH1, MSH2, MSH6, or PMS2 genes. It is characterized by the development of childhood cancers, usually hematological malignancies and/or brain tumors, and colorectal cancers with multiple intestinal polyps. The majority of patients show signs of neurofibromatosis type 1.


osteoarthritis, non-human animal

description: Osteoarthritis that occurs in non-human animals.


ABCA4-related retinopathy

description: An inherited retinopathy caused by bi-allelic variants in the ABCA4 gene.


intellectual disability, X-linked 30

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the PAK3 gene.


mature teratoma

description: A teratoma which may be cystic; it is composed entirely of well differentiated, adult-type tissues, without evidence of fetal-type tissues.


subendocardial myocardial infarction

description: An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the subendocardial layer of the wall of the heart.


description: A recessive syndrome characterized by craniosynostosis, intellectual disability, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose.


Bothnia retinal dystrophy

description: A rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens in the posterior pole are also noted.


pontocerebellar hypoplasia type 2B

description: Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN2 gene.


intracranial berry aneurysm

description: An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm.


short stature due to GHSR deficiency

description: Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported.


name: ventricular fibrillation, paroxysmal familial, 2

description: Any ventricular fibrillation in which the cause of the disease is a mutation in the DPP6 gene.


endocardial fibroelastosis, dog

description: Endocardial fibroelastosis that occurs in dog.


name: short-rib thoracic dysplasia 10 with or without polydactyly

description: An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23.


name: Mayer-Rokitansky-Küster-Hauser syndrome type 2

description: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome, is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MCllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used.


name: lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome

description: Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.


Bardet-Biedl syndrome 16

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene.


name: carbon monoxide-induced delayed encephalopathy

description: Anoxic encephalopathy resulting from acute CO intoxication, developing within 2-6 weeks of the poisoning event


adactylia, unilateral

description: A rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral absence of the terminal portions of digits 2 to 5, with a mildly hypoplastic thumb and small nail remnants on the digital stumps. Metacarpal bones may be variably reduced.


name: mucopolysaccharidosis type 6, rapidly progressing


name: gastrointestinal defects and immunodeficiency syndrome 1

description: A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood.


laryngocele

description: A rare congenital malformation in the larynx. It is characterized by the presence of an air-filled sac within the laryngeal wall which may bulge on the neck.


name: growth restriction, hypoplastic kidneys, alopecia, and distinctive facies


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


linear focal dermal elastosis

description: Linear focal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by asymptomatic, palpable, hypertrophic or atrophic, yellowish or red, indurated, horizontal, striae-like linear plaques distributed symmetrically across the mid and lower back. No systemic involvement has been described. Skin biopsy reveals a focal increase in abnormal elastic tissue with abundant, wavy, fragmented and aggregated, basophilic elastic fibers in the reticular dermis.


name: developmental and epileptic encephalopathy 112


name: disorder of metabolite absorption and transport


familial goiter, pig

description: Familial goiter that occurs in pig.


name: aortic arch interruption, facial palsy, and retinal coloboma


advanced sleep phase syndrome 1

description: Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER2 gene.


post-viral disorder, non-human animal

description: Post-Viral disorder that occurs in non-human animals.


enuresis, nocturnal, 1

description: Nocturnal enuresis with at least 3 nightly episodes in children older than 7 years, where the child has always had the disorder.


aortic dissection lentiginosis

description: A syndrome characterized by arterial dissections, multiple lentigines, and cystic medial necrosis.


congenital myasthenic syndrome 7

description: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SYT2 gene.


description: A syndrome associated with developmental delay, mild intellectual disability, microcephaly, and thrombocytopenia with platelet anisotropy and enlarged platelets.


canine mastocytoma

description: A tumor composed of mast cells that occurs in dogs.


name: immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection


name: combined oxidative phosphorylation deficiency 52


prostate cancer, dog

description: Prostate cancer that occurs in dog.


name: low density lipoprotein, variation in molecular weight of


hirudiniasis

description: An disease or disorder caused by infection with Hirudinea.


name: mixed phenotype acute leukemia,T/myeloid

description: An acute biphenotypic leukemia that is characterized by blasts that express antigens of both T and myeloid antigens.


post-thrombotic syndrome

description: A condition characterized by a chronically swollen limb, often a leg with stasis dermatitis and ulcerations. This syndrome can appear soon after phlebitis or years later. Postphlebitic syndrome is the result of damaged or incompetent venous valves in the limbs. Distended, tortuous varicose veins are usually present. Leg pain may occur after long period of standing.


name: autism spectrum disorder, non-human animal

description: Autism spectrum disorder that occurs in non-human animals.


fish eye disease

description: Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency.


familial benign copper deficiency

description: Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1982.


name: congenital dyserythropoietic anemia type 3

description: Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia.


name: recessive aplasia cutis congenita of limbs

description: Recessive aplasia cutis congenita of limbs is an extremely rare variant of aplasia cutis congenita (ACC) characterized by the congenital absence of skin on the upper and/or lower limbs, with these lesions usually healing spontaneously resulting in a hypotrichotic scar. Recessive ACC of limbs may be associated with junctional epidermolysis bullosa. The inheritance was hypothesized to be autosomal recessive. There have been no further descriptions in the literature since 1980.


name: CIDEC-related familial partial lipodystrophy


name: defect in conserved oligomeric Golgi complex


name: difference of sexual differentiation, non-human animal


vaginal fibroepithelial polyp

description: A superficial polypoid lesion that arises from the vagina. It is characterized by the presence of a fibroblastic stroma which is often myxoid, covered by squamous epithelial cells.


name: intellectual disability, autosomal recessive 10


Leber congenital amaurosis 15

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the TULP1 gene.


retinal detachment, non-human animal

description: Retinal detachment that occurs in non-human animals.


Fusobacteriaceae infectious disease

description: Infections with bacteria of the family Fusobacteriaceae, in the order Fusobacterales, phylum fusobacteria.


bacterial hemorrhagic fever

description: A hemorrhagic fever caused by bacteria. Bacterial hemorrhagic disease is rare. One example of a bacterial hemorrhagic disease is scrub typhus.


hyperplastic polyp

description: A polyp found mainly in the stomach and colon. Microscopically, it is characterized by elongated, serrated crypts lined by proliferative epithelium. Hyperplastic polyps are traditionally considered non-neoplastic, but ras mutation is common, clonality has been demonstrated and biochemical abnormalities and epidemiological associations that occur in colorectal adenomas and carcinomas have been found (WHO Tumors of the Digestive System, 2000).


oculotrichodysplasia

description: Oculotrichodysplasia is characterized by retinitis pigmentosa, trichodysplasia, dental anomalies, and onychodysplasia. It has been described in two siblings (brother and sister) born to first cousin parents. Transmission appears to be autosomal recessive.


name: epithelioid inflammatory myofibroblastic sarcoma


hereditary optic atrophy

description: A family of inherited disorders characterized by progressive loss of vision secondary to death of the retinal ganglion cell axons that comprise the optic nerve.


congenital enterovirus infection

description: Congenital viral infections with enteroviruses (EV) including coxsackie viruses and ECHO viruses is an infectious embryofetopathy that have been reported to cause spontaneous abortion, stillbirth, fetal malformations and acute systemic illness in the newborn.


peroxisomal disease

description: A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, intellectual disability, characteristic facial dysmorphic features, hepatomegaly, and hypotonia.


benign prostatic hyperplasia, dog

description: Benign prostatic hyperplasia that occurs in dog.


achondroplasia, dog

description: Achondroplasia that occurs in dog.


neonatal glycine encephalopathy

description: Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.


juvenile myasthenia gravis

description: Juvenile myasthenia gravis (MG) is a rare form of MG, an autoimmune disorder of the neuromuscular junction resulting in ocular manifestations or generalized weakness, with onset before 18 years of age.


inborn disorder of energy metabolism

description: An inherited metabolic disease that is has its basis in the disruption of generation of precursor metabolites and energy.


hearing disorder

description: A disorder characterized by the partial or complete loss of the ability to detect sounds due to damage to the ear structures or inability of the brain to properly interpret or process the auditory signals it receives from the anatomic structures of the ear.


adrenomyodystrophy

description: Adrenomyodystrophy is an extremely rare genetic endocrine disease characterized by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982.


name: partial duplication of the short arm of chromosome 3

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


Meckel syndrome, type 8

description: Any Meckel syndrome in which the cause of the disease is a mutation in the TCTN2 gene.


chromosome 12 disorder

description: Chromosomal disorder in which chromosome 12 is affected.


absence of innominate vein

description: Absence of innominate vein is a rare congenital anomaly of the great veins characterized by absence of the left brachiocephalic vein (or innominate vein), resulting in an anomalous venous vasculature. Patients are usually asymptomatic and the anomaly is typically discovered intraoperatively. An association with persistence of left superior vena cava, permanent levoatrial cardinal vein or anomaly of the inferior vena cava has been reported in some cases.


acute bilirubin encephalopathy

description: A rare neurologic disease characterized by lethargy, hypotonia, poor feeding, opisthotonus, and a typical high-pitched cry due to bilirubin accumulation in the globus pallidus, sub-thalamic nuclei, and other brain regions, resulting from severe neonatal unconjugated hyperbilirubinemia. Onset of symptoms is typically within the first three to five days of life. Additional features include fever, apnea, seizures, and coma. Especially respiratory failure or refractory seizures may lead to a fatal outcome.


name: progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome


Evans syndrome, horse

description: Evans syndrome that occurs in horse.


leukemia, myeloid, accelerated-phase

description: The phase of chronic myeloid leukemia following the chronic phase (leukemia, myeloid, chronic-phase), where there are increased systemic symptoms, worsening cytopenias, and refractory leukocytosis.


description: A basal ganglia disease characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.


name: CELSR1-related late-onset primary lymphedema

description: A rare genetic primary lymphedema characterized by unilateral or bilateral lower limb lymphedema of variable severity. The condition shows almost complete penetrance with onset in childhood or adolescence in females, whereas in males it shows incomplete penetrance with later onset of disease. Lymphoscintigraphy in more severely affected individuals reveals lymphatic abnormalities consistent with lymphangiectasia, valve dysfunction, and thoracic duct reflux.


chromosome 6q24-q25 deletion syndrome

description: 6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.


Coffin-Siris syndrome 7

description: Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the DPF2 gene.


myopia, dog

description: Myopia that occurs in dog.


name: intellectual disability, autosomal recessive 51

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


name: inborn disorder of amino acid and other organic acid metabolism


name: spongiform encephalopathy with neuropsychiatric features


name: COG6-ongenital disorder of glycosylation


deafness-oligodontia syndrome

description: Deafness-oligodontia syndrome is characterized by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive.


name: core binding factor acute myeloid leukemia

description: An acute myeloid leukemia that is characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis.


name: autism spectrum disorder due to AUTS2 deficiency

description: Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures.


leukoplakia of vagina

description: Leukoplakia of the vagina.


dacryoadenitis

description: Inflammation and enlargement of the lacrimal gland.


elastofibroma dorsi

description: A benign, slow-growing tumor arising from the soft tissues usually in the mid-thoracic region of the elderly. It is characterized by the presence of paucicellular collagenous tissue, adipocytes and a predominance of large coarse elastic fibers arranged in globules.


eyelid melanoma

description: A melanoma that arises from the upper or lower eyelid.


juvenile hyaline fibromatosis

description: Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occurring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis.


name: congenital pulmonary airway malformation type 0


neutral lipid storage disease

description: Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy) can be distinguished.


occupational disorder, non-human animal

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


synovium disorder

description: A disease or disorder that involves the layer of synovial tissue.


dermis tumor

description: A benign, intermediate, or malignant neoplasm that arises from the dermis.


name: dyskeratosis congenita, autosomal dominant 3

description: A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TINF2 on chromosome 14q12.


name: hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2


name: persistent truncus arteriosus, domestic cat

description: Persistent truncus arteriosus that occurs in domestic cat.


occipital lobe neoplasm

description: A neoplasm involving a occipital lobe.


acute retinal necrosis syndrome

description: Mild to fulminant necrotizing vaso-occlusive retinitis associated with a high incidence of retinal detachment and poor vision outcome.


name: central nervous system hematopoietic neoplasm

description: A primary or metastatic neoplasm of hematopoietic origin that affects the brain, meninges, or spinal cord. Representative examples include Hodgkin and non-Hodgkin lymphomas, histiocytic tumors, and leukemias.


frontometaphyseal dysplasia 2

description: Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the MAP3K7 gene.


vulvar syringoma

description: A benign neoplasm that arises from eccrine ducts in the vulva and is characterized by the presence of tubules and cysts which are lined by epithelial cells in the densely fibrotic dermis.


name: complete atrioventricular canal-left heart obstruction syndrome


name: immunodeficiency 78 with autoimmunity and developmental delay


cervical Wilms tumor

description: An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney.


name: congenital adrenal hyperplasia due to 11-beta hydroxylase deficiency, domestic cat

description: Congenital adrenal hyperplasia due to 11-beta hydroxylase deficiency that occurs in domestic cat.


sleep disorder

description: A change from the patient's baseline sleeping pattern, in the hours slept and/or an alteration/dysfunction in the stages of sleep.


name: spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures

description: Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene.


factor XII deficiency, domestic cat

description: Factor XII deficiency that occurs in domestic cat.


name: pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome


name: autoinflammation, immune dysregulation, and eosinophilia


secondary syringomyelia

description: Secondary syringomyelia is a rare medullar disease defined as a development of a fluid-filled cavity or syrinx within the spinal cord due to blockage of CSF circulation (e.g., due to basal archnoiditis, meningeal carcinomatosis, various mass lesions), spinal cord injury (e.g., due to trauma, radiation necrosis, hemorrhage, spinal abscess), spinal dysraphism or intramedullary tumors. It presents with neuropathic pain, numbness, muscular weakness, changes in tone or spasticity or autonomic changes (hyperhidrosis, heart rate or blood pressure instability). Selective loss of pain and temperature with relative preservation of dorsal column function (touch and pressure) are classic findings.


benign essential hypertension

description: A condition of mild to moderate high blood pressure that has no identifiable cause.


fascioliasis

description: A parasitic infection that is caused by liver flukes, usually Fasciola hepatica, of sheep, goats, and cattle. Humans become infected by eating uncooked, infested aquatic vegetation (classically watercress). adult flukes inhabit the bile ducts, gallbladder, and occasionally ectopic sites. Symptoms arise secondary to inflammatory response or obstruction.


name: short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis


name: mitochondrial complex 1 deficiency, nuclear type 29


name: inborn disorder of amino acid metabolism

description: An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria.


poorly differentiated chordoma

description: A chordoma that is characterized by loss of SMARCB1 expression and that is composed of sheets or nests of malignant epithelioid cells with abundant eosinophilic cytoplasm.


myxoid leiomyosarcoma

description: A morphologic variant of leiomyosarcoma characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma.


name: mitochondrial complex V (ATP synthase) deficiency nuclear type 2

description: A mitochondrial complex deficiency characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.


name: neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset


name: combined oxidative phosphorylation deficiency 57


cerebellopontine angle tumor

description: A neoplasm that affects the cerebellopontine angle. Representative examples include vestibular schwannoma and meningioma.


paroxysmal dyskinesia, non-human animal

description: Paroxysmal dyskinesia that occurs in non-human animals.


IMPG2-related dominant retinopathy

description: Any retinopathy caused by a heterozygous variant in the IMPG2 gene.


uterine ligament cancer

description: A primary or metastatic malignant neoplasm that affects the uterine ligament.


bejel

description: A chronic skin and tissue disease caused by infection by the endemicum subspecies of the spirochete Treponema pallidum.


name: lissencephaly with cerebellar hypoplasia type F

description: Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum.


sporotrichosis

description: The commonest and least serious of the deep mycoses, characterized by nodular lesions of the cutaneous and subcutaneous tissues. It is caused by inhalation of contaminated dust or by infection of a wound.


familial tumoral calcinosis

description: Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions dysplay collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification Two forms of tumoral calcinosis have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis.


Bartter disease type 5

description: Any Bartter syndrome in which the cause of the disease is a mutation in the MAGED2 gene.


name: skeletal defects, genital hypoplasia, and intellectual disability


name: neuropathy, hereditary motor and sensory, type VIc, with optic atrophy


name: metaphyseal dysplasia, Braun-Tinschert type

description: Metaphyseal dysplasia, Braun-Tinschert type is characterized by metapyhseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions.


chondromyxoid fibroma

description: An uncommon benign cartilaginous neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain.


AA amyloidosis, cattle

description: AA amyloidosis that occurs in cattle.


vibrio vulnificus infectious disease

description: An disease or disorder caused by infection with Vibrio vulnificus.


mild hyperphenylalaninemia

description: Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria, an inborn error of amino acid metabolism, characterized by mild symptoms of HPA.


AICA-ribosiduria

description: AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness.


name: neurodegeneration, childhood-onset, with cerebellar atrophy


Chuvash polycythemia

description: Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death.


chronic endometritis

description: A non-granulomatous or granulomatous chronic inflammation of the endometrium. Causes include sexually transmitted pathogens and gynecological procedures. Patients may present with irregular bleeding.


bubonic plague

description: A plague in which the bacteria have infected the lymphatic system.


penile disorder

description: A non-neoplastic or neoplastic disorder that affects the penis. Representative examples of non-neoplastic disorders include phimosis, balanitis, and hypospadias. Representative examples of neoplastic disorders include hemangioma, penile intraepithelial neoplasia, and penile carcinoma.


brachydactyly, non-human animal

description: Brachydactyly that occurs in non-human animals.


name: spastic paraplegia, optic atrophy, and dementia


name: syndromic X-linked intellectual disability Shashi type

description: X-linked intellectual disability, Shashi type is characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localized to the q21.3-q27 region of the X chromosome.


Brugada syndrome 1

description: Any Brugada syndrome in which the cause of the disease is a mutation in the SCN5A gene.


name: anonychia-onychodystrophy with brachydactyly type b and ectrodactyly


bartonellosis

description: An infectious disease produced by bacteria of the genus Bartonella.


name: developmental and epileptic encephalopathy, 51

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the MDH2 gene.


coronary arterial fistulas

description: Coronary arterial fistulas are a connection between one or more of the coronary arteries and a cardiac chamber or great vessel.


description: Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations.