ricin poisoning

description: A rare disorder due to poisoning characterized by acute onset of potentially life-threatening illness following ingestion, inhalation, or injection of ricin, a lectin present in the seeds of <i>Ricinus communis</i>, the castor oil plant. Clinical presentation depends on the route of administration, inhalation being the most toxic route, followed by oral ingestion. Presenting signs and symptoms include nausea, vomiting, diarrhea, hematemesis, and melena (upon ingestion), cough, wheezing, dyspnea, sore throat, and congestion (upon inhalation), and erythema, induration, blisters, capillary leak syndrome, and localized necrosis (upon injection). The condition can progress to seizures, shock, organ failure, pulmonary edema, and respiratory failure.


Batten-Turner congenital myopathy

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

description: A congenital myopathy in which a family of 6 siblings presented in infancy the picture of 'amyotonia congenita' and later in life a nonprogressive myopathy.


name: intellectual developmental disorder, autosomal recessive 70


non-human primate disease

description: Diseases of animals within the order primates. This term includes diseases of Haplorhini and Strepsirhini.


setariasis

description: Infection with nematodes of the genus Setaria. This condition is usually seen in cattle and equines and is of little pathogenic significance, although migration of the worm to the eye may lead to blindness.


partial sensory epilepsy

description: A disorder characterized by recurrent focal onset seizures which have sensory (i.e., olfactory, visual, tactile, gustatory, or auditory) manifestations. Partial seizures that feature alterations of consciousness are referred to as complex partial seizures (epilepsy, complex partial).


cat-scratch disease

description: Cat scratch disease is an infectious illness caused by the bacteria bartonella (Bartonella henselae). It is believed to be transmitted by cat scratches, bites, or exposure to cat saliva. This self-limiting infectious diseaseis characterized by a bump or blister at the site of the bite or scratch and swelling and pain in the lymph nodes. Other features may include fatigue, headache, achiness, and fever. Although cat-scratch disease usually subsides without treatment, antibiotic and/or antimicrobial therapy may help speed recovery.


name: hypertrophic cardiomyopathy, non-human animal

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


name: intellectual developmental disorder, autosomal dominant 64


conventional fibrosarcoma

description: A malignant mesenchymal neoplasm composed of fibroblasts, and characterized by collagen production and usually a herringbone architectural pattern.


Charcot-Marie-Tooth disease type 2

description: A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.


autosomal recessive amelia

description: Autosomal recessive amelia is characterized by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three fetuses born to non consanguineous parents.


ataxia - oculomotor apraxia type 4

description: Any oculomotor apraxia or related oculomotor disease in which the cause of the disease is a mutation in the PNKP gene.


name: malocclusion due to protuberant upper front teeth


hypophosphatasia, dog

description: Hypophosphatasia that occurs in dog.


name: combined deficiency of factor V and factor VIII

description: Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms.


name: intellectual disability, autosomal dominant 42

description: Any autosomal dominant intellectual disability in which the cause of the disease is a heterozygous mutation in the GNB1 gene. It is characterized by global developmental delay, intellectual disability, hypotonia, structural brain abnormalities, and seizures. Other less common findings include dystonia, visual impairment, behavior problems, growth delay, craniofacial defects, and genitourinary abnormalities in males.


name: generalized epilepsy with febrile seizures plus, type 2

description: Any febrile seizures, familial in which the cause of the disease is a mutation in the SCN1A gene.


name: neurodegeneration, childhood-onset, with progressive microcephaly


name: wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome


name: developmental and epileptic encephalopathy 89


name: aniridia-renal agenesis-psychomotor retardation syndrome

description: Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974.


name: idiopathic macular telangiectasia type 3

description: A rare, acquired, eye disease characterized by progressive visual loss, due to bilateral juxtafoveolar capillary occlusions, capillary telangiectasia, and minimal exudation. It is associated with systemic or cerebral vascular occlusive disease.


name: infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development


name: juvenile amyotrophic lateral sclerosis with dementia

description: A juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia.


name: peroxisome biogenesis disorder 7A (Zellweger)

description: An autosomal recessive condition caused by mutation(s) in the PEX26 gene, encoding peroxisome assembly protein 26. Peroxisome biogenesis disorder 7A manifests phenotypically as Zellweger syndrome.


cataract 12 multiple types

description: A cataract that has material basis in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22.


immunodeficiency-related disorder

description: A non-neoplastic or neoplastic disorder that develops in a patient with immunodeficiency. Representative examples include AIDS-related disorders and disorders that develop following organ transplantation.


name: non-specific autoimmune supratentorial encephalitis without characteristic antibodies


acute myeloid leukemia, Trisomy 8

description: Any acute myeloid leukemia that has the chromosomal anomaly Trisomy 8. (A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells.)


torsion dystonia 13

description: DYT13 type primary dystonia is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement.


myocardial stunning

description: Prolonged dysfunction of the myocardium after a brief episode of severe ischemia, with gradual return of contractile activity.


parovarian cyst

description: A cyst (cysts) near the ovary, derived from anomalies of the fallopian tubes or the broad ligament. The paramesonephric type consists of ciliated cells similar to the oviduct epithelium. The mesonephric type consisted of an epithelium with minimally surface structures. They can be found on the thin oviduct (paratubal cysts) or near its fimbriated end (hydatid of Morgagni).


salmonellosis

description: Infections with bacteria of the genus salmonella.


acute endometritis

description: An acute, usually bacterial infection affecting the endometrium. It is characterized by the presence of neutrophils or microabscesses in the endometrial glands. Symptoms include fever, lower abdominal pain, and vaginal discharge.


name: paraneoplastic isolated brainstem encephalitis


familial melanoma

description: Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family.


name: acute myeloid leukemia, Non-KMT2A MLLT10 rearrangement positive

description: Any acute myeloid leukemia that has the chromosomal anomaly Non-KMT2A MLLT10 rearrangement positive. (An indication that a cytogenetic rearrangement involving MLLT10 but not involving KMT2A was detected in a sample.)


Charcot-Marie-Tooth disease type 5

description: Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity.


disseminated peritoneal leiomyomatosis

description: A rare, benign process that affects the peritoneal cavity and is characterized by the formation of multiple small nodules that are composed of well differentiated smooth muscle. It usually affects adults in their late reproductive years. Most patients are asymptomatic. The tumor nodules may regress spontaneously.


neonatal brainstem dysfunction

description: Neonatal brainstem dysfunction is a rare neurologic disease characterized by the association of suction-swallowing dysfunction, abnormal laryngeal sensitivity and motility (manifesting with dyspnea or obstructive apnea-hypopnea), gastroesophageal reflux (generally resistant to medication) and cardiac vagal overactivity (e.g. brachycardia, vasovagal episodes) of varying degrees of severity. Impaired social interaction has also been reported.


muscle cancer

description: A malignant neoplasm affecting the skeletal or smooth muscles. Malignant neoplasms arising from the skeletal muscles are called rhabdomyosarcomas. Malignant neoplasms arising from the smooth muscles are called leiomyosarcomas.


NK cell deficiency

description: A primary immunodeficiency disease that results from defeciency in the number or function of CD56+CD3− NK cell in peripheral blood.


name: acute myeloid leukemia, t(9;22)(q34.1;q11.2)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(9;22)(q34.1;q11.2). (A translocation between chromosomes 9 and 22 that is associated with the Philadelphia chromosome.)


polydactyly, goat

description: Polydactyly that occurs in goat.


silent sinus syndrome

description: Silent sinus syndrome is characterized by adult-onset progressive enophthalmos due to collapse of some or all of the maxillary sinus walls.


name: adult-onset foveomacular vitelliform dystrophy

description: Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region.


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

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


xeroderma pigmentosum group C

description: An autosomal recessive inherited disorder caused by mutations in the XPC gene. This disease is characterized by increased sensitivity to sunlight with the development of carcinomas at an early age and is caused by a defect in nucleotide excision repair.


name: microcephaly with intellectual disability

description: Microcephaly characterized by both microcephaly and atypical neurodevelopment, without other commonly reported non-brain related phenotypes.


name: prostate cancer aggressiveness quantitative trait locus on chromosome 19


symptomatic heart failure

description: A heart failure which results in symptoms such as shortness of breath, fatigue, inability to exerciseb& etc


name: benign adult familial myoclonic epilepsy

description: Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia.


pili torti-onychodysplasia syndrome

description: Pili torti-onychodysplasia is a form of ectodermal dysplasia characterized by dystrophy of the distal part of the nails and trichodysplasia. It has been described in only one family. Transmission is autosomal recessive.


trisomy 18p

description: Trisomy 18p is an extremely rare chromosomal anomaly with a poorly defined clinical phenotype. Reported manifestations include short stature, mild, moderate or severe developmental delay and intellectual disability, variable but mild facial dysmorphism, and epilepsy.


benign neoplasm of scrotum

description: A benign neoplasm that involves the scrotum.


priapism, domestic cat

description: Priapism that occurs in domestic cat.


Joubert syndrome 21

description: Any Joubert syndrome in which the cause of the disease is a mutation in the CSPP1 gene.


name: nasal hyperpigmentation, familial transverse


name: KAT6B-related multiple congenital anomalies syndrome


name: Ehlers-Danlos syndrome, autosomal dominant, type unspecified


TUBB4A-related neurologic disorder

description: Any neurologic condition in which the cause of the disease is a mutation in the TUBB4A gene.


essential thrombocythemia

description: A chronic myeloproliferative neoplasm that involves primarily the megakaryocytic lineage. It is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage. (WHO, 2008)


amyotrophic lateral sclerosis type 19

description: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ERBB4 gene.


myeloperoxidase deficiency, dog

description: Myeloperoxidase deficiency that occurs in dog.


name: systemic-onset juvenile idiopathic arthritis

description: Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio.


name: inflammatory poikiloderma with hair abnormalities and acral keratoses


episodic ataxia type 7

description: Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings.


name: iatrogenic or traumatic pituitary deficiency


name: osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension


description: Any neurodevelopmental disorder in which the cause of the disease is a variation in the SYNCRIP gene. It is characterized by a neurologic and developmental disorder with autism spectrum disorder (ASD), intellectual disability (ID), and epilepsy. Other signs and symptoms may include cerebral structural anomalies such as periventricular nodular heterotopia and widening of subarachnoid spaces.


EZB-MYC- diffuse large B-cell lymphoma

description: An EZB diffuse large B-cell lymphoma that does not express the double hit gene expression signature (DHITsig-) according to gene expression profiling. These cases tend to have few MYC translocations or DDX3X mutations.


hypotrichosis 12

description: Any hypotrichosis in which the cause of the disease is a mutation in the RPL21 gene.


name: developmental and epileptic encephalopathy 94

description: An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability.


myotubular myopathy 1, domestic cat

description: Myotubular myopathy 1 that occurs in domestic cat.


name: combined oxidative phosphorylation defect type 27

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the CARS2 gene.


nemaline myopathy 5

description: Amish nemaline myopathy is a type of nemaline myopathy (NM) only observed in several families of the Amish community.


Fanconi-like syndrome

description: A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies.


nail infection

description: An infectious process affecting the nail.


orofaciodigital syndrome IV

description: Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.


trigonocephaly-broad thumbs syndrome

description: Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait.


name: neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion


chronic inducible urticaria

description: A chronic urticaria that is characterized by a history of a consistent stimulus that initiates lesions, which are typically short-lived and fleeting, lasting a few minutes up to 2 hours.


restrictive dermopathy 1

description: A restrictive dermopathy that has material basis in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34.


nanophthalmia

description: Nanophthalmia is a severe form of microphthalmia characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma.


Cowden syndrome 3

description: Any Cowden disease in which the cause of the disease is a mutation in the SDHD gene.


tyrosine hydroxylase deficiency

description: Tyrosine hydroxylase (TH) deficiency is an autosomal recessive disorder characterized by a spectrum of phenotypic features, based on severity and response to levodopa. It can be broadly categorized into TH-deficient dopa-responsive dystonia (mild, with dramatic and sustained response to levodopa), TH-deficiency infantile parkinsonism with motor delay (severe, with incomplete response to levodopa), and TH-deficiency infantile encephalopathy (very severe, with little to no response to levodopa).


monosomy 9q22.3

description: Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.


dentinogenesis imperfecta type 3

description: Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy).


peritonsillar abscess

description: An abscess that develops in the space surrounding one or both palatine tonsils.


primary ciliary dyskinesia 9

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI2 gene.


description: X-linked intellectual disability, Stoll type is characterized by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked.


erythema multiforme major

description: A severe, sometimes life-threatening, form of erythema multiforme. It is considered to be a hypersensitivity skin reaction triggered by a variety of stimuli, including infections and medication. It is characterized by raised, edematous papules in the extremities; involvement of one or more mucous membranes; and epidermal detachment involving less than ten percent of the total body surface area.


name: nutritional deficiency disease, non-human animal


spinocerebellar ataxia type 25

description: Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia and prominent sensory neuropathy.


name: tetralogy of fallot syndrome, autosomal recessive


name: retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome


la Crosse encephalitis

description: La Crosse encephalitis (CE) is an acute arboviral infection caused by the La Crosse bunyavirus transmitted by an infected mosquito, usually observed in infants, children or adolescents (6 months to 16 years), and characterized by the onset of flulike symptoms such as fever, chills, nausea, vomiting, headache, and abdominal pain, followed by the onset of encephalitis characterized by somnolence, obtundation, and even seizures, focal neurologic signs (asymmetrical reflexes or Babinski signs), paralysis or even coma. CE can leave sequelae such as residual epilepsy and neurocognitive deficits.


name: intellectual disability, autosomal recessive 2

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


dysautonomia, llama

description: Dysautonomia that occurs in llama.


Whitewater Arroyo hemorrhagic fever

description: A viral infectious disease that is a hemorrhagic fever, has material basis in Whitewater Arroyo virus, which is transmitted by white-throated woodrats (Neotoma albigula). The infection has symptom fever, has symptom headache, has symptom myalgia, and has symptom hemorrhagic manifestations.


distal monosomy 9p

description: Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma.


name: short-rib thoracic dysplasia 14 with polydactyly

description: An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23.


cone-rod dystrophy 12

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the PROM1 gene.


Joubert syndrome 2

description: Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM216 gene.


inborn disorder of histidine metabolism

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


cataract 36

description: Any cataract in which the cause of the disease is a mutation in the TDRD7 gene.


Gordon syndrome

description: An extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.


histiocytic and dendritic cell neoplasm

description: Rare tumors that affect the hematopoietic and lymphoid tissues. The cells of origin are the histiocytes and accessory cells. They can occur at any age and show no significant variations in geographical distribution. This category includes the histiocytic sarcoma, Langerhans cell histiocytosis, Langerhans cell sarcoma, interdigitading dendritic cell sarcoma/tumor, follicular dendritic cell sarcoma/tumor, and dendritic cell sarcoma, not otherwise specified. (WHO, 2001)


name: short-rib thoracic dysplasia 7/20 with polydactyly, digenic


name: global developmental delay with or without impaired intellectual development


actinic cheilitis

description: Cheilitis due to chronic exposure to ultraviolet (UV) radiation. It may increase the risk for the development of invasive squamous cell carcinoma of the lip.


AIDS phobia

description: An overwhelming, irrational, and persistent fear of contracting Acquired Immune Deficiency Syndrome.


name: ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant


name: LIPE-related familial partial lipodystrophy


name: congenital hereditary facial paralysis-variable hearing loss syndrome

description: Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus.


name: rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked


early-onset Lafora body disease

description: Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades.


Kyrle disease

description: Kyrle disease is rare condition that affects the skin. People with this condition generally develop large papules with central keratin (a protein found in the skin, hair and nails) plugs throughout their body. These lesions are typically not painful but may cause severe itching. Although it can affect both men and women throughout life, the average age of onset is 30 years. The cause of the disease is currently unknown; however, it is often associated with certain conditions such as diabetes mellitus, kidney disease, liver abnormalities, and congestive heart failure. In some families, the condition appears to be inherited but an underlying genetic cause has not been identified. Treatment aims to address the associated signs and symptoms and any additional disease that may be present. Lesions often heal spontaneously but new ones continue to develop.


name: acute myeloid leukemia, t(1;11)(q21;q23)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(1;11)(q21;q23). (A cytogenetic abnormality that refers to the translocation of the long arm (q21) of chromosome 1 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/MLLT11 (AF1Q) fusions, acute myeloid leukemia and some cases of acute lymphoblastic leukemia.)


thelaziasis

description: A disease caused by infection with Thelazia.


2q24 microdeletion syndrome

description: 2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.


name: benign familial neonatal-infantile seizures 1


femoral cancer

description: A cancer involving a femur.


hereditary spastic paraplegia 47

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4B1 gene.


pelvis syndrome

description: PELVIS is an acronym defining the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.


chromosome 3q13.31 deletion syndrome

description: 3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicantic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present.


name: MELAS syndrome caused by mutation in MTTC

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


name: neuropathy, hereditary motor and sensory, type 6A

description: Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the MFN2 gene.


benign mesenchymoma

description: A term describing a benign soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation.


name: hypotonia with lactic acidemia and hyperammonemia

description: This syndrome is characterized by severe hypotonia, lactic academia and congenital hyperammonaemia.


iris neoplasm

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


name: pseudohypoaldosteronism, type IB3, autosomal recessive


cardiovascular syphilis

description: A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries.


atypical choroid plexus papilloma

description: A choroid plexus papilloma characterized by increased mitotic activity.


name: tricho-dento-osseous-like syndrome, non-human animal

description: Tricho-dento-osseous-like syndrome that occurs in non-human animals.


crossed polysyndactyly

description: Crossed polysyndactyly is a rare, genetic, congenital limb malformation disorder characterized by unilateral or bilateral postaxial polydactyly in the hands and preaxial polydactyly in the feet, associated with bilateral cutaneous syndactyly of first, second and third toes. Cutaneous syndactyly in hands has also been reported in some patients. There have been no further descriptions in the literature since 1994.


Charcot-Marie-Tooth disease type 4B2

description: Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported.


name: alveolar capillary dysplasia without misalignment of pulmonary veins

description: A rare form of interstitial and vascular lung disease that presents as severe pulmonary hypertension and refractory hypoxemia early in life that is characterized by a lack of misalignment of the pulmonary veins.


name: mitochondrial complex I deficiency, nuclear type


oculoosteocutaneous syndrome

description: A syndrome is characterized by congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive.


name: classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

description: The most common form of congenital adrenal hyperplasia (CAH), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia.


myotonic cataract

description: A cataract occurring as a sequela of myotonic dystrophy.


mucocutaneous leishmaniasis

description: The most common form of leishmaniasis that is transmitted through the bite of female phlebotomine sand flies or after exposure to leishmania parasites. It is characterized by skin lesions at the site of insect bite which typically develop within weeks or months after exposure. The lesions typically progress from small papules to open sores with raised borders and central ulcers which can be covered with scales or crust.


aphthous stomatitis

description: A recurrent disease of the oral mucosa of unknown etiology. It is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring.


name: autosomal recessive spinocerebellar ataxia 17

description: Any autosomal recessive congenital cerebellar ataxia in which the cause of the disease is a mutation in the CWF19L1 gene.


Alexander disease type I

description: Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration.


Moyamoya disease 2

description: Any Moyamoya disease in which the cause of the disease is a mutation in the RNF213 gene.


childhood germ cell tumor

description: A germ cell tumor that occurs during childhood.


name: partial monosomy of the short arm of chromosome 20


name: intellectual disability, autosomal dominant 30

description: Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the ZMYND11 gene.


Unverricht-Lundborg syndrome

description: Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time.


cervical adenosarcoma

description: A rare malignant mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign epithelial elements.


Yersinia infectious disease

description: Infections with bacteria of the genus yersinia.


coagulation protein disease

description: Congenital or acquired deficiency of one of the coagulation factors. It results in bleeding.


familial cervical artery dissection

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


sympathetic nervous system disorder

description: A disease or disorder that involves the sympathetic nervous system.


name: combined oxidative phosphorylation deficiency 29

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TXN2 gene.


acquired hypertrichosis lanuginosa

description: Acquired hypertrichosis lanuginosa is a rare cutaneous paraneoplastic disease characterized by the presence of excessive lanugo-type hair on the glabrous skin of face, neck, trunk and limbs that can be associated with additional clinical features such as burning glossitis, papillary hypertrophy of the tongue, diarrhea, dysgeusia, and/or weight loss. It is associated with lymphoma or cancer of the gastrointestinal system, urinary tract, lung, breast, uterus or ovary.


canine mammary carcinoma

description: Mammary carcinoma occurring in a dog.


name: intellectual developmental disorder with poor growth and with or without seizures or ataxia


name: autosomal recessive proximal renal tubular acidosis

description: Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features.


leukodystrophy, dog

description: Leukodystrophy that occurs in dog.


intersphincteric abscess

description: An abscess contained between the internal and external anal sphincters.


name: osteosclerosis-ichthyosis-premature ovarian failure syndrome

description: This syndrome is characterized by sclerosing bone dysplasia, ichthyosis vulgaris and premature ovarian failure. The bone disorder affects all metaphyseal-diaphyseal regions of the long bones, the skull, and the metacarpals.


Ullrich congenital muscular dystrophy 2

description: Any Ullrich congenital muscular dystrophy in which the cause of the disease is a mutation in the COL12A1 gene.


name: lethal arthrogryposis-anterior horn cell disease syndrome


cataract 28

description: A cataract that has material basis in variation in the region 6p12-q12.


name: GRID2-related autosomal dominant spinocerebellar ataxia


name: mitochondrial complex 1 deficiency, nuclear type 19


myotonia congenita, autosomal recessive

description: Autosomal recessive form of myotonia congenita.


Stargardt disease

description: Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion.


name: neurodegeneration with brain iron accumulation 6

description: COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.


chronic bilirubin encephalopathy

description: A rare neurologic disease characterized by the chronic consequences of bilirubin toxicity in the globus pallidus, sub-thalamic nuclei, and other brain regions, after exposure to high levels of unconjugated bilirubin in the neonatal period. Symptoms begin after the acute phase of bilirubin encephalopathy in the first year of life, evolve slowly over several years, and include mild to severe extrapyramidal disturbances (especially dystonia and athetosis), auditory neuropathy spectrum disorder, and oculomotor and dental abnormalities.


secondary polyarteritis nodosa

description: Secondary polyarteritis nodosa (PAN) is a rare serious form of PAN characterized by vasculitis in a background of viral infection, primarily with hepatitis B virus (HBV).


retinitis pigmentosa 29

description: A retinitis pigmentosa that has material basis in variation in the chromosome region 4q32-q34.


epididymis cancer

description: A primary or metastatic malignant neoplasm that affects the epididymis. Representative examples include primary epididymal adenocarcinoma and metastatic carcinoma to the epididymis arising from another anatomic site.


name: hereditary acrokeratotic poikiloderma, Weary type


uterine corpus cancer

description: A malignant neoplasm involving the body of uterus.


name: PNPLA6-related spastic paraplegia with or without ataxia

description: An autosomal recessive, multisystem condition caused by pathogenic variants of the PNPLA6 gene that characterized by peripheral neuropathy, cognitive impairment, lower limb spasticity, muscle weakness, and reduced vibration sense. Additional clinical features may include cerebellar ataxia, hypogonadism, growth hormone deficiency, and hypothyroidism.


name: cardiac anomalies - developmental delay - facial dysmorphism syndrome


cytokine receptor deficiency

description: A disease that has its basis in the disruption of cytokine receptor activity.


pemphigus, goat

description: Pemphigus that occurs in goat.


name: pyruvate kinase deficiency of erythrocyte, domestic cat

description: Pyruvate kinase deficiency of erythrocyte that occurs in domestic cat.


apperceptive agnosia

description: An agnosia that is a loss of the ability to distinguish visual shapes.


name: neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination


name: camptodactyly syndrome, Guadalajara type 3

description: Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone traveculae, cortical thickening of long bones and delayed bone age.


name: type I complement component 8 deficiency

description: Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8A gene.


eyelid cancer

description: A cancer that involves the eyelid.


name: ciliary dyskinesia with transposition of ciliary microtubules


Lassa fever

description: A viral hemorrhagic fever that is caused by the Lassa virus, which is transmitted by contact with infected rodents; it is characterized by fever, headache, malaise, myalgia, and hearing loss.


name: spinocerebellar ataxia, autosomal recessive 24

description: Any autosomal dominant cerebellar ataxia in which the cause of the disease is a mutation in the UBA5 gene.


ulnar-mammary syndrome

description: Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described.


name: bone marrow failure and diabetes mellitus syndrome


chromosome 20 disorder

description: Chromosomal disorder in which chromosome 20 is affected.


diastematomyelia

description: A rare congenital abnormality in which the spinal cord is split in half by fibrous or bony tissue. It may present as an isolated phenomenon or in association with spina bifida.


name: autosomal dominant nonsyndromic hearing loss 21

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p24.1-p22.3.


acute leukemia of ambiguous lineage

description: An acute leukemia in which the blasts lack sufficient evidence to classify as myeloid or lymphoid or they have morphologic and/or immunophenotypic characteristics of both myeloid and lymphoid cells. (WHO, 2001)


dilated cardiomyopathy, rabbit

description: Dilated cardiomyopathy that occurs in rabbit.


name: disorder of defective peroxisome oxidative status

description: Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisome oxidation.


Aland island eye disease

description: An X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia.


name: cholesterol-ester transfer protein deficiency


idiopathic central precocious puberty

description: Central precocious puberty for which no underlying cause can be identified.


ischemic disease

description: Lack of blood supply to an area of the body, resulting in impairment of tissue oxygenation.


name: intellectual disability, autosomal dominant 14

description: Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1A gene.


endocervical type cervical adenomyoma

description: An adenomyoma that arises from the cervix and is characterized by the presence of endocervical mucinous glands and a smooth muscle cell component. There is no atypia or significant mitotic activity present.


name: chromosome 5Q14.3 deletion syndrome, distal


eccrine sweat gland hamartoma

description: A hamartoma characterized by localized eccrine sweat gland malformation.


leukoplakia of penis

description: A precancerous condition characterized by the presence of abnormal whitish areas on the glans or prepuce of the penis. Risk factors include chronic irritation, inflammation, and infection of the penis, and poor genital hygiene.


hepatic encephalopathy, domestic cat

description: Hepatic encephalopathy that occurs in domestic cat.


name: muscular dystrophy, congenital, with rapid progression


RPE65-related recessive retinopathy

description: A retinopathy, which may include conditions described as retinitis pigmentosa and Leber congenital amaurosis, caused by biallelic variants in the RPE65 gene.


morbid obesity

description: An excess of body weight, normally defined as an individual with a body mass index greater than 35 or a body weight greater than one hundred percent of ideal body weight.


name: persistent left superior vena cava connecting to the left-sided atrium

description: Persistent left superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by a persistent left superior vena cava which drains directly to the left atrium, without passing through the coronary sinus (that may be absent in some cases). Patients are usually asymptomatic and discovered incidentally, however hypoxia, cyanosis, murmurs, palpitations, cardiac structural anomalies (e.g. atrial septal defect, bicuspid aortic valve, cor triatrium) and risk of paradoxical embolization may be associated.


mouth mucosa disorder, non-human animal

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


ovarian dysgenesis 2

description: Any primary ovarian failure in which the cause of the disease is a mutation in the BMP15 gene.


name: atypical hemolytic-uremic syndrome with C3 anomaly


tracheal lymphoma

description: A rare lymphoma that arises from the trachea. Signs and symptoms include dyspnea, cough, wheezing, and stridor.


name: skin disease caused by bacterial infection, non-human animal


name: Wiskott-Aldrich syndrome, autosomal dominant form


laryngeal granuloma

description: A tumor-like nodule or mass of inflammatory granulation tissue projecting into the lumen of the LARYNX.


name: congenital heart disease radio ulnar synostosis intellectual disability


name: hyper-IgE recurrent infection syndrome 5, autosomal recessive


testis rhabdomyosarcoma

description: A malignant mesenchymal tumor with skeletal muscle differentiation affecting the testis.


thrombotic disease

description: The formation of a blood clot in the lumen of a vessel or heart chamber; causes include coagulation disorders and vascular endothelial injury.


name: chemodectoma, intraabdominal, with cutaneous angiolipomas


glycogen storage disease I

description: Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b, and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver.


intravenous leiomyomatosis

description: A rare benign neoplasm characterized by the presence of smooth muscle cells growing within veins.


name: non-specific autoimmune brainstem encephalitis without characteristic antibodies


name: mitochondrial complex III deficiency nuclear type 3

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


basilar artery occlusion

description: Evidence of occlusion and stenosis of basilar artery.


name: epiphyseal dysplasia-hearing loss-dysmorphism syndrome

description: Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (incl. epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (incl. abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992.


testicular trophoblastic tumor

description: A tumor that arises from the testis and is composed of neoplastic trophoblastic cells. The vast majority of cases are choriocarcinomas.


ASAH1-related disorders

description: The spectrum of ASAH1-related disorders ranges from Farber disease (FD) to spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). The diagnosis of an ASAH1-related disorder is established in a proband with suggestive clinical findings by identification of biallelic pathogenic variants in ASAH1 and/or decreased activity of the enzyme acid ceramidase in peripheral blood leukocytes or cultured skin fibroblasts.


ptosis-vocal cord paralysis syndrome

description: Ptosis-vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983.


cannabinoid hyperemesis syndrome

description: A syndrome of cyclic vomiting associated with cannabis use. Fourteen diagnostic characteristics have been identified, and the frequency of major characteristics is as follows: history of regular cannabis for any duration of time (100%), cyclic nausea and vomiting (100%), resolution of symptoms after stopping cannabis (96.8%), compulsive hot baths with symptom relief (92.3%), male predominance (72.9%), abdominal pain (85.1%), and at least weekly cannabis use (97.4%). Supportive care with intravenous fluids, dopamine antagonists, topical capsaicin cream, and avoidance of narcotic medications has shown some benefit in the acute setting. Cannabis cessation appears to be the best treatment.


name: well differentiated papillary mesothelioma

description: A localized or multifocal mesothelioma arising from the peritoneum and less often the pleura. Cases arising from the peritoneum predominantly occur in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to malignant mesothelioma.


Plummer disease

description: Nodular enlargement of the thyroid gland associated with hyperthyroidism.


HBA1-related alpha thalassemia spectrum

description: Mild microcytic anemia caused by biallelic variation in the HBA1 gene.


malignant tumor of neck

description: A cancer that involves the neck.


deficiency of adenosine deaminase 2

description: Any disease or disorder in which the cause of the disease is a mutation in the ADA2 gene.


name: acute myeloid leukemia, KIT exon 17 mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly KIT exon 17 mutation. (A molecular genetic abnormality indicating the presence of a mutation in exon 17 of the KIT gene located within 4q11-q12.)


acrodermatitis enteropathica, dog

description: Acrodermatitis enteropathica that occurs in dog.


urogenital tuberculosis

description: A general term for mycobacterium infections of any part of the urogenital system in either the male or the female.


name: spastic paraplegia-glaucoma-intellectual disability syndrome

description: Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive.


name: internal carotid artery, spontaneous dissection of


immune epilepsy

description: Epilepsies that have a distinct immune-mediated etiology with evidence of central nervous system inflammation, that has been demonstrated to be associated with a substantially increased risk of developing epilepsy.


name: familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome


papillary conjunctivitis

description: Conjunctivitis that is characterized by the formation of papillae on the palpebral conjunctiva.


name: EBV-positive T-cell lymphoproliferative disorder of childhood

description: An Epstein-Barr virus-associated mature T-cell lymphoproliferative group of disorders affecting children. It occurs with increased frequency in Asians and Native Americans. It includes the systemic EBV-positive T-cell lymphoma of childhood and the hydroa vacciniforme-like lymphoma.


junctional epidermolysis bullosa

description: Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation.


Hoyeraal-Hreidarsson syndrome

description: Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.


autosomal recessive omodysplasia

description: Autosomal recessive form of omodysplasia.


microphthalmia with limb anomalies

description: Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.


name: benign angiitis of the central nervous system

description: A central nervous system vasculitis that has a benign course, with acute onset of neurologic symptoms, usually in the form of severe headache and/or a focal neurologic event.


name: intellectual disability-myopathy-short stature-endocrine defect syndrome

description: Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985.


magnesium deficiency

description: A nutritional condition produced by a deficiency of magnesium in the diet, characterized by anorexia, nausea, vomiting, lethargy, and weakness. Symptoms are paresthesias, muscle cramps, irritability, decreased attention span, and mental confusion, possibly requiring months to appear. Deficiency of body magnesium can exist even when serum values are normal. In addition, magnesium deficiency may be organ-selective, since certain tissues become deficient before others. (Harrison's Principles of Internal Medicine, 12th ed, p1936)


pachyonychia congenita 2

description: Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT17 gene.


synovial chondromatosis

description: Synovial chondromatosis is a type of non-cancerous tumor that arises in the lining of a joint. The knee is most commonly affected, however it can affect any joint. The tumors begin as small nodules of cartilage. These nodules can separate and become loose within the joint. Some tumors may be no larger than a grain of rice. Synovial chondromatosis most commonly occurs in adults ages 20 to 50. Signs and symptoms may include pain, swelling, a decreased range of motion, and locking of the joint. The exact underlying cause of the condition is unknown. Treatment may involve surgery to remove the tumor. Recurrence of the condition is common.


opportunistic mycosis

description: A mycosis that arises from infection in an immunologically compromised host.


cataract 21 multiple types

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


name: integumentary system disorder, non-human animal

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


name: anemia, congenital dyserythropoietic, type 1a


Cowden syndrome 4

description: Any Cowden disease in which the cause of the disease is a mutation in the KLLN gene.


Usher syndrome type 3B

description: Any Usher syndrome in which the cause of the disease is a mutation in the HARS gene.


infectious encephalitis

description: An acute infectious process that affects the brain tissue. It is usually caused by viruses and less often by bacteria, parasites, and fungi.


name: Greig cephalopolysyndactyly-contiguous gene syndrome


name: auditory neuropathy, autosomal dominant 2


lysosomal storage disease, domestic cat

description: Lysosomal storage disease that occurs in domestic cat.


autosomal recessive Alport syndrome

description: Autosomal recessive Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance. About15 percentof Alport syndrome cases are inherited in an autosomal recessive pattern and are caused bymutations in both copies of the COL4A3 or COL4A4 genes. Treatment is based on the symptoms present and may include medications to delay the progression of kidney disease. In most cases, a kidney transplant is eventually needed.


name: pulmonic stenosis and congenital nephrosis


spermatogenic failure 3

description: Any azoospermia in which the cause of the disease is a mutation in the SLC26A8 gene.


myoclonus, horse

description: Myoclonus that occurs in horse.


name: hereditary cryohydrocytosis with reduced stomatin


cerebellar-facial-dental syndrome

description: A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has material basis in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32.


name: multiple congenital anomalies/dysmorphic syndrome without intellectual disability


pancreatic cancer, susceptibility to, 2

description: Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA2 gene.


hyperdibasic aminoaciduria type 1

description: Hyperdibasic aminoaciduria, type 1 is characterized by increased renal clearance of lysine, ornithine and arginine, in the presence of normal concentrations of cystine. Heterozygous individuals are asymptomatic but homozygotes display intellectual deficit. To date, 25 heterozygotes and one homozygote have been reported.


hypertrichosis lanuginosa congenita

description: Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes.


name: epidermolysis bullosa simplex superficialis

description: Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized or acral superficial erosions in the absence of blisters.


peripheral nervous system cancer

description: Malignant growth of cells in the peripheral nervous system (PNS)or Autonomic Nervous System (ANS), without specification as to location


renal dysplasia

description: Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral, segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia.


hereditary spastic paraplegia 50

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4M1 gene.


name: developmental and epileptic encephalopathy, 44

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the UBA5 gene.


name: blepharophimosis-ptosis-epicanthus inversus syndrome type 2


hemorrhagic disease of newborn

description: A condition characterized as a coagulation disturbance in newborns due to vitamin K deficiency resulting in impaired production of coagulation factors II, VII, IX, and X, and proteins C and S by the liver.


name: T-cell immunodeficiency, congenital alopecia, and nail dystrophy

description: A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has material basis in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12.


urachus cancer

description: A malignant neoplasm involving the urachus.


choanal atresia, alpaca

description: Choanal atresia that occurs in alpaca.


name: ectodermal dysplasia-cutaneous syndactyly syndrome


myoclonus-dystonia syndrome

description: Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks.


loiasis

description: Loiasis is a form of filariasis (see this term), caused by the parasitic worm Loa loa, endemic to the forest and savannah regions of Central and Western Africa. Loiasis may either be asymptomatic or manifest as a large, transient area of localized, non-erythematous subcutaneous edema (Calabar swellings), adult worm migration through the sub-conjunctiva (''African eye worm'') and pruritus. Generalized itching, hives, muscle pains, arthralgias, fatigue, and adult worms visibly migrating under the surface of the skin may be observed. Severe complications such as encephalopathy have been reported in highly infected individuals receiving ivermectin during mass drug administration programs for the control of onchocerciasis and lymphatic filariasis.


name: distal hereditary motor neuropathy type 2


pediatric Castleman disease

description: Pediatric Castleman disease (PCD) is a form of Castleman disease (CD) with a predominant occurrence in teenagers which is either asymptomatic or manifest by systemic (such as fever, anemia, fatigue and failure to thrive) or compressive symptoms.


postencephalitic Parkinson disease

description: A disease believed to be caused by a viral illness that triggers degeneration of the nerve cells in the substantia nigra. Overall, this degeneration leads to clinical parkinsonism.


ATP6AP2-related disorder

description: Variants in the gene ATP6AP2 have been associated with a multitude of diseases, including X-linked syndromic ID Hedera type, X-linked Parkinsonism-spasticity syndrome, and congenital disorder of glycosylation type 2R. Phenotypes include global developmental delay, intellectual disability, progressive neurologic decline, spasticity, seizures, infantile onset of liver failure, recurrent infections, dysmorphic features, and features of parkinsonism (rigidity, resting tremor, bradykinesia). These phenotypes do not appear in all individuals with one of the above disease assertions, but many are overlapping phenotypes.


cerebral palsy, spastic quadriplegic, 3

description: Any spastic quadriplegia in which the cause of the disease is a mutation in the ADD3 gene.


name: neuronopathy, distal hereditary motor, autosomal recessive 5

description: Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared.


name: pulmonary hypertension, non-human animal

description: Pulmonary hypertension that occurs in non-human animals.


cough variant asthma

description: An asthma that is characterized by chronic nonproductive cough without shortness of breath.


feline neoplasm

description: Neoplasm that occurs in a cat.


chronic childhood arthritis

description: An older, deprecated term that encompassed three major types of autoimmune or autoinflammatory arthritis in children: systemic-onset, pauciarticular, or polyarticular arthritis. The juvenile rheumatoid arthritis classification system has been replaced by the International League of Associations for Rheumatology (ILAR) juvenile idiopathic arthritis classification system.


heart-hand syndrome, Slovenian type

description: A rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.


asphyxiating thoracic dystrophy 5

description: Any Jeune syndrome in which the cause of the disease is a mutation in the WDR19 gene.


name: partial deletion of the short arm of chromosome 11


name: oocyte/zygote/embryo maturation arrest 17


name: disorder of vitamin and non-protein cofactor absorption and transport


description: This syndrome is characterized by severe intellectual deficit, kyphosis with onset in childhood and cataract with onset in late adolescence.


autoimmune autonomic ganglionopathy

description: A rare variant of Guillain-Barré syndrome characterized by acute post-ganglionic sympathetic and parasympathetic failure presenting several weeks after acute infection with gastrointestinal symptoms (abdominal pain, vomiting, constipation, diarrhea, gastroparesis, ileus), orthostatic hypotension, erectile dysfunction, urinary frequency, urgency or retention, vasomotor instability with acrocyanosis and reduced salivation, lacrimation and sweating.


venous thromboembolism

description: Occlusion of the lumen of a vein by a thrombus that has migrated from a distal site via the blood stream.


name: combined oxidative phosphorylation defect type 20

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the VARS2 gene.


retina neoplasm

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


name: hereditary sclerosing poikiloderma, Weary type


postherpetic neuralgia

description: Pain that occurs after the disappearance of herpes zoster infection lesions.


name: immunodeficiency 74, COVID-19-related, X-linked


thyroid ectopia

description: Thyroid ectopia is a form of thyroid dysgenesis characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.


epithelioid cell uveal melanoma

description: A uveal melanoma characterized by the presence of malignant large epithelioid melanocytes.


name: drug- or toxin-induced pulmonary arterial hypertension

description: Drug- or toxin-induced pulmonary arterial hypertension (PAH) is a form of pulmonary arterial hypertension (PAH) secondary to the exposition to drugs. Drug- or toxin-induced PAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. Drug or toxin induced PAH is progressive and potentially fatal.


name: glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form


name: microcornea-glaucoma-absent frontal sinuses syndrome

description: Microcornea-glaucoma-absent frontal sinuses syndrome is characterized by microcornea, glaucoma and absent frontal sinuses. Less 10 cases have been described so far. The mode of transmission appears to be autosomal dominant.


name: neuronopathy, distal hereditary motor, autosomal recessive 9


pontocerebellar hypoplasia type 1B

description: Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the EXOSC3 gene.


name: Ehlers-Danlos syndrome, Beasley-Cohen type


infancy electroclinical syndrome

description: An electroclinical syndrome with onset in infancy occurring between birth and one year of age.


name: partial deletion of the long arm of chromosome 19


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

description: Autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMD2Y) is a form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy.


description: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic.


ventricular septal defect, domestic cat

description: Ventricular septal defect that occurs in domestic cat.


name: craniodiaphyseal dysplasia, autosomal dominant


mitochondrial DNA depletion syndrome 11

description: Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.


IMPG2-related recessive retinopathy

description: Any retinopathy caused by bi-allelic variants in the IMPG2 gene.


mycetoma

description: Mycetomas are subcutaneous inflammatory pseudotumors containing fungal or actinomycetic (bacteria with branched filaments) granules or grains.


name: neurodevelopmental disorder with microcephaly, short stature, and speech delay


name: dwarfism, proportionate, with hip dislocation


name: partial deletion of the long arm of chromosome 13

description: A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 13.


Astley-Kendall dysplasia

description: Astley-Kendall dysplasia is a lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases.


name: Okihiro syndrome due to 20q13 microdeletion


cerebellar liponeurocytoma

description: A rare, WHO grade II cerebellar neoplasm which shows consistent neuronal, variable astrocytic and focal lipomatous differentiation. It occurs in adults, has a low proliferative potential and usually has a favorable prognosis. (Adapted from WHO)


description: Odonto-tricho-ungual-digito-palmar syndrome is characterized by neonatal teeth, trichodystrophy and malformations of the hands and feet. To date, it has been reported in 21 patients and is transmitted as an autosomal dominant trait.


name: cystic leukoencephalopathy without megalencephaly

description: Cystic leukoencephalopathy without megalencephaly is characterized by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive.


name: spinocerebellar ataxia, autosomal recessive 30


chromosome 3 disorder

description: Chromosomal disorder in which chromosome 3 is affected.


mesenchymal cell neoplasm

description: A benign, intermediate, or malignant neoplasm that arises from the mesenchyma-derived cells of the soft tissue or bone. Representative examples include lipoma, leiomyoma, leiomyosarcoma and osteosarcoma.


calcium metabolic disease

description: Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization.


hypomyelinating leukodystrophy 3

description: Any leukodystrophy in which the cause of the disease is a mutation in the AIMP1 gene.


superficial siderosis

description: Superficial siderosis is a rare neurologic disease characterized by progressive sensorineural hearing loss, cerebellar ataxia, pyramidal signs, and neuroimaging findings revealing hemosiderin deposits in the spinal and cranial leptomeninges and subpial layer. The disease progresses slowly and patients may present with mild cognitive impairment, nystagmus, dysmetria, spasticity, dysdiadochokinesia, dysarthria, hyperreflexia, and Babinski signs. Additional features reported include dementia, urinary incontinence, anosmia, ageusia, and anisocoria.


atrial septal defect 8

description: Any atrial heart septal defect in which the cause of the disease is a mutation in the CITED2 gene.


name: partial trisomy of the long arm of chromosome 16


inflammation of heart layer

description: An inflammatory disease involving a pathogenic inflammatory response in the heart layer.


name: diabetes insipidus, nephrogenic, X-linked


anterior cerebral artery infarction

description: Necrosis occurring in the anterior cerebral artery system, including branches such as Heubner's artery. These arteries supply blood to the medial and superior parts of the cerebral hemisphere, Infarction in the anterior cerebral artery usually results in sensory and motor impairment in the lower body.


cryptorchidism, pig

description: Cryptorchidism that occurs in pig.


name: parkinsonism with dementia of Guadeloupe

description: Parkinsonism with dementia of Guadeloupe is characterized by symmetrical bradykinesia, predominantly axial rigidity, postural instability with early falls and cognitive decline with prominent features of frontal lobe dysfunction.


name: hypermetabolism due to defect in mitochondria


benign neoplasm of gum

description: A benign neoplasm that involves the gingiva.


sitosterolemia

description: A rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes.


Stromme syndrome

description: An autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).


multi-infarct dementia

description: A common form of dementia caused by multiple cortical or subcortical cerebral infarctions.


name: facio digito genital syndrome recessive form


pityriasis rubra pilaris

description: A group of skin conditions that cause constant inflammation and scaling of the skin. People with PRP have reddish, scaly patches that may occur everywhere on the body, or only on certain areas. Some people with PRP also develop thickened skin on the underside of the hands and feet (palmoplantar keratoderma), various nail abnormalities, and/or thinning of the hair. There are several types of PRP classified by age when symptoms begin, body areas involved, and whether other conditions are present. This condition occurs in adults (adult onset PRP) as well as children (juvenile onset PRP).


cheilitis glandularis

description: Cheilitis glandularis (CG) is an uncommon chronic inflammatory disease of unknown origin characterized by macrocheilia and secretions of thick saliva from swollen labial minor salivary glands.


cardiovascular neoplasm

description: A benign or malignant neoplasm that affects the heart and/or vessels. Representative examples of benign neoplasms include atrial myxoma, hemangioma, and lymphangioma. Representative examples of malignant neoplasms include pericardial malignant mesothelioma and angiosarcoma.


lysosomal storage disease, kangaroo

description: Lysosomal storage disease that occurs in kangaroo.


Mazabraud syndrome

description: Mazabraud syndrome is a rare primary bone dysplasia characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia is usually multifocal, typically occurring in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported.


stromal sarcoma

description: A malignant neoplasm characterized by the presence of atypical mesenchymal-stromal cells. Representative examples include endometrial stromal sarcoma and prostate stromal sarcoma.


Hunter-McAlpine craniosynostosis

description: Hunter-McAlpine craniosynostosis is characterized by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter).


Lambert syndrome

description: Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit.


name: syndrome caused by partial chromosomal deletion

description: A chromosomal disorder consisting of the absence of a part of a chromosome.


onychomatricoma

description: A neoplasm involving a UBERON:0002283.


familial goiter, dog

description: Familial goiter that occurs in dog.


pneumonia of swine, mycoplasmal

description: A chronic, clinically mild, infectious pneumonia of pigs caused by mycoplasma hyopneumoniae. Ninety percent of swine herds worldwide are infected with this economically costly disease that primarily affects animals aged two to six months old. The disease can be associated with porcine respiratory disease complex. pasteurella multocida is often found as a secondary infection.


external hirudiniasis

description: The attachment of leeches to the skin. After the leeches drop off, bleeding may continue as a result of the action of hirudin. Bites may become infected or ulcerate.


overlap myositis

description: Overlap myositis (OM) is a form of idiopathic inflammatory myopathy (IIM) characterized by myositis with at least one clinical and/or autoantibody overlap feature.


name: dentin dysplasia-sclerotic bones syndrome

description: A rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977.


amyopathic dermatomyositis

description: A form of dermatomyositis characterized by the presence of typicalskin findingswithout muscle weakness.Some of the skinchanges that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. Pruritis and photosensitivity are common, as is scalp inflammation and thinning of the hair.While patients with amyopathic dermatomyositis should not have clinically evident muscle weakness, minor muscle abnormalities may be included.Fatigue is reported in at least 50% of patients. Some cases have beenassociated with internal malignancy and/or interstitial lung disease. Treatment may include sun avoidance, ample use of sunscreen, topical corticosteroids, antimalarial agents, methotrexate, mycophenolate mofetil, or intravenous (IV) immunoglobulin.


name: diarrhea, glucose-stimulated secretory, with common variable immunodeficiency


acute fatty liver of pregnancy

description: Acute fatty liver of pregnancy is a rare but severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterized by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy.


description: Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive.


indolent systemic mastocytosis

description: Indolent systemic mastocytosis (ISM) is a benign form of systemic mastocytosis (SM) characterized by an abnormal proliferation of mast cells either only in bone marrow or in numerous tissues.


bulbomembranous urethral cancer

description: A malignant neoplasm that affects the bulbomembranous part of the urethra.


paraneoplastic pemphigus

description: Pemphigus is a group of chronic autoimmune skin diseases characterized by blisters formation on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterized, of which paraneoplastic pemphigus is extremely rare.


name: nodular sclerosis classical Hodgkin lymphoma

description: A subtype of classical Hodgkin lymphoma characterized by collagen bands that surround at least one nodule, and Hodgkin and Reed-Sternberg cells with lacunar type morphology. (WHO, 2008)


X-linked Alport syndrome

description: X-linked form of Alport syndrome.


name: ichthyosis congenita with biliary atresia


Bacteroides infectious disease

description: Infections with bacteria of the genus bacteroides.


coronary thrombosis

description: Coagulation of blood in any of the coronary vessels. The presence of a blood clot (thrombus) often leads to myocardial infarction.


malignant hypertension

description: Severe hypertension that is characterized by rapid onset of extremely high blood pressure.


O'Sullivan-McLeod syndrome

description: O'Sullivan McLeod syndrome is a benign lower motor neuron disorder and a rare variant of monomelic amyotrophy (MA), characterized by an initial unilateral weakness in the intrinsic hand muscles that eventually spreads to the opposite limb (with an asymmetrical distribution) and that has a very slow progression of muscular atrophy over a 20 year period.


antisocial personality disorder

description: A disorder characterized by a pervasive pattern of disregard for and violation of the rights of others that is manifested in childhood or early adolescence. (adapted from DSM-IV)


syringomyelia, dog

description: Syringomyelia that occurs in dog.


name: atypical hemolytic uremic syndrome with complement gene abnormality


feline osteosarcoma

description: Osteosarcoma that occurs in a cat.


urinary tract obstruction

description: Blockage of the normal flow of contents of the urinary tract.


name: autosomal recessive spinocerebellar ataxia 7

description: Spinocerebellar ataxia autosomal recessive 7, also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia. Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties (dysarthria), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cerebellar atrophy). Of the few reported cases in the literature, some patients also had eye involvement that included nystagmus (in voluntary eye movements)and saccadic pursuit eye movements. Out of 5 affected siblings examined in a large Dutch family, 2 became wheelchair-dependent late in life. The severity of the symptoms varies from mild to severe. SCAR7 is caused by mutations in the TPP1 gene and is inherited in an autosomal recessive manner.


name: hematopoietic and lymphoid cell neoplasm

description: A neoplasm arising from hematopoietic cells found in the bone marrow, peripheral blood, lymph nodes and spleen (organs of the hematopoietic system). Hematopoietic cell neoplasms can also involve other anatomic sites (e.g. central nervous system, gastrointestinal tract), either by metastasis, direct tumor infiltration, or neoplastic transformation of extranodal lymphoid tissues. The commonest forms are the various types of leukemia, Hodgkin and non-Hodgkin lymphomas, myeloproliferative neoplasms, and myelodysplastic syndromes.


keratosis palmoplantaris striata 3

description: Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT1 gene.


cortical blindness

description: Visual impairment due to visual cortex dysfunction.


name: dyskeratosis congenita, autosomal recessive 8


mouth mucosa disorder

description: A disease or disorder that involves the mouth mucosa.


name: keratoconus and congenital hip dysplasia


meningovascular neurosyphilis

description: A tertiary neurosyphilis that results in inflammation located in arteries of the brain or located in arteries of spinal cord. The infection has symptom headache, has symptom neck stiffness, has symptom dizziness, has symptom behavioral abnormalities, has symptom poor concentration, has symptom memory loss, has symptom lassitude, has symptom insomnia, has symptom blurred vision, has symptom weakness and wasting of shoulder-girdle and arm muscles, has symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has symptom paralysis of the legs due to thrombosis of spinal arteries.


nephrotic syndrome, type 2

description: Any nephrotic syndrome in which the cause of the disease is a mutation in the NPHS2 gene.


name: maternal uniparental disomy of chromosome 4

description: Maternal uniparental disomy of chromosome 4 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.


choroid plexus neoplasm

description: An intraventricular papillary neoplasm that originates from the choroid plexus epithelium. It includes the choroid plexus papilloma, atypical choroid plexus papilloma, and choroid plexus carcinoma.


name: optic atrophy--spastic paraplegia syndrome


AL amyloidosis, domestic cat

description: AL amyloidosis that occurs in domestic cat.


familial adenomatous polyposis 1

description: Any attenuated familial adenomatous polyposis in which the cause of the disease is a mutation in the APC gene.


familial primary pulmonary hypoplasia

description: Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congential malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life.


retinitis pigmentosa 47

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


Charcot-Marie-Tooth disease type 1C

description: Any Charcot-Marie-Tooth disease type 1 in which the cause of the disease is a mutation in the LITAF gene.


name: acute necrotizing encephalopathy of childhood

description: Acute necrotizing encephalopathy of childhood is a rare neurologic disease characterized by a rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointesitnal infection (e.g. mycoplasma, influenza virus) in a previously healthy child. Brain MRI of patients reveals bilateral, multiple, symmetrical lesions predominantly observed in thalami and brainstem, but also in periventricular white matter and cerebellum in some cases.


petrositis

description: Inflammation of petrous bone.


name: Leber congenital amaurosis with early-onset deafness


Alphavirus infectious disease

description: Virus diseases caused by members of the alphavirus genus of the family togaviridae.


name: plasma clot retraction factor, deficiency of


von Willebrand disease type 2B

description: A subtype of type 2 VWD characterized by a bleeding disorder associated with an increase in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets. This anomaly results in spontaneous binding of high molecular weight VWF multimers to platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and the high molecular weight VWF multimers from the plasma.


foodborne botulism

description: Foodborne botulism is the most common form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis due to botulinum neurotoxins (BoNTs). It is caused by consumption of contaminated food containing BoNTs.


Wilson disease, non-human animal

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


name: myeloid neoplasm associated with PDGFRB rearrangement

description: A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRB gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic myelomonocytic leukemia with eosinophilia, chronic eosinophilic leukemia, atypical chronic myelogenous leukemia, juvenile myelomonocytic leukemia, myelodysplastic syndrome, acute myeloid leukemia or acute lymphoblastic leukemia. Patients usually present with anemia, leukocytosis, monocytosis, eosinophilia and/or splenomegaly, or systemic symptoms, such as fever, sweating and/or weight loss.


name: skeletal dysplasia-epilepsy-short stature syndrome

description: Skeletal dysplasia-epilepsy-short stature syndrome is characterized by moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. It has been described in seven patients. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait.


hyperglobulinemic purpura

description: Purplish or brownish red discoloration of the skin associated with increase in circulating polyclonal globulins, usually gamma-globulins. This syndrome often occurs on the legs of women aged 20 to 40 years.


name: immunodeficiency-centromeric instability-facial anomalies syndrome 4

description: Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the HELLS gene.


optic atrophy 2

description: A rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected.


name: laryngeal atresia, encephalocele, and limb deformities


Warburg micro syndrome

description: Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.


thyroid dyshormonogenesis 5

description: Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOXA2 gene.


name: congenital heart defects, dysmorphic facial features, and intellectual developmental disorder


chemotherapy-induced oral mucositis

description: Inflammation and ulceration of the oral mucosa as a result of chemotherapy treatment.


name: mandibuloacral dysplasia with type B lipodystrophy


name: peroxisome biogenesis disorder 1A (Zellweger)

description: An autosomal recessive condition caused by mutation(s) in the PEX1 gene, encoding peroxisome biogenesis factor 1. Peroxisome biogenesis disorder 1A manifests phenotypically as Zellweger syndrome.


orbital leiomyoma

description: Orbital leiomyoma is a rare benign smooth muscle tumor arising from the walls of orbital vessels characterized by its slow growth and well encapsulated nature. It is usually located in an extraconal position, commonly manifesting with painless proptosis. The tumor is composed of spindle cells arranged in a fibrous stroma rich in dilated sinusoidal capillaries. The nuclei of tumor cells are oval with blunted ends and there are no mitotic figures. Orbital leiomyoma when excised has excellent prognosis for vision and life. One case of orbital leiomyosarcoma that possibly represents sarcomatous change in an orbital leiomyoma following radiation treatment has been reported.


name: muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8


name: Gaucher ichthyosis restrictive dermopathy


neuronal ceroid lipofuscinosis 7

description: Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). CLN7-NCL is caused by changes (mutations) in the MFSD8 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.


name: intellectual disability, keratoconus, febrile seizures, and sinoatrial block


streptobacillary rat-bite fever

description: Streptobacillary rat-bite fever (RBF) is a systemic zoonosis caused by the aerobic gram-negative bacterium Streptobacillus moniliformis and is transmitted to humans through the bites and scratches of infected rats.


calcifying fibrous tumor

description: A benign well-circumscribed paucicellular lesion arising from the soft tissues. It is characterized by the presence of fibroblasts, lymphoplasmacytic infiltrates, collagenous stroma formation, psammoma bodies, and dystrophic calcifications.


dacryocystitis, non-human animal

description: Dacryocystitis that occurs in non-human animals.


name: neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities


localized osteosarcoma

description: A non-disseminated osteosarcoma.


name: congenital absence of the sternocleidomastoid muscle


low grade fibromyxoid sarcoma

description: A low grade, late-metastasizing variant of fibrosarcoma characterized by alternating fibrous and myxoid areas and a whorling growth pattern. The neoplastic cells have a spindle morphology, and lack hyperchromasia or significant nuclear atypia. Approximately 40% of cases show the focal presence of collagen rosettes. A t(7;16)(q33;p11) translocation has been identified in the majority of cases, associated with the presence of FUS-CREB3L2 fusion protein. Rare cases carry the t(11;16)(p11;p11) translocation which is associated with the presence of the FUS-CREB3L1 fusion protein.


dermatomycosis

description: Superficial infections of the skin or its appendages by any of various fungi.


hereditary spastic paraplegia 25

description: Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1.


name: epidermolytic hyperkeratosis 2B, autosomal recessive


name: intellectual developmental disorder, autosomal recessive 77


name: pancytopenia and occlusive vascular disease


name: multiple acyl-coa dehydrogenase deficiency, non-human animal

description: Multiple acyl-coa dehydrogenase deficiency that occurs in non-human animals.


latent syphilis

description: A stage of syphilis characterized by the serologic evidence of infection by Treponema pallidum without evidence of accompanying signs or symptoms related to the disease.