name: myeloid/lymphoid neoplasm associated with JAK2 rearrangement

description: Hematologic neoplasms characterized by the presence of t(8;9)(p22;p24.1) that results in PCM1-JAK2 fusion gene expression. It is associated with eosinophilia, bone marrow findings of left-shifted erythroid predominance, lymphoid aggregates, and often myelofibrosis. Rare cases present as T- or B-acute lymphoblastic leukemia.


hereditary spastic paraplegia 51

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

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4E1 gene.


cataract 22 multiple types

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB3 gene.


bipartite talus

description: Bipartite talus is a rare, genetic bone disorder characterized by the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling.


frontal lobe epilepsy

description: A localization-related (focal) form of epilepsy characterized by seizures which arise in the frontal lobe. A variety of clinical syndromes exist depending on the exact location of the seizure focus. Frontal lobe seizures may be idiopathic (cryptogenic) or caused by an identifiable disease process such as traumatic injuries, neoplasms, or other macroscopic or microscopic lesions of the frontal lobes (symptomatic frontal lobe seizures). (From Adams et al., Principles of Neurology, 6th ed, pp318-9)


name: developmental and epileptic encephalopathy, 4

description: Early infantile epileptic encephalopathy 4 (EIEE4) is a form of early infantile epileptic encephalopathy, which refers to a group of neurological conditions characterized by severe seizures beginning in infancy. EIEE4, specifically, is often associated with partial complex or tonic-clonic seizures, although other seizure types have been reported. Other signs and symptoms mayinclude intellectual disability, reduced muscle tone (hypotonia), hypsarrhythmia (an irregular pattern seen on EEG), dyskinesia (involuntary movement of the body), and spastic di- or quadriplegia. EIEE4 is caused by changes (mutations) in the STXBP1 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. For example, certain medications are often prescribed to help control seizures, although they are not always effective in all people with the condition.


name: neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies


benign chondrogenic neoplasm

description: A non-metastasizing cartilaginous matrix-producing neoplasm characterized by the presence of neoplastic chondrocytes. Representative examples include osteochondroma and chondroma.


name: limbic encephalitis with LGI1 antibodies

description: Limbic encephalitis with LGI1 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive decline, psychiatric disturbances and seizures (distinctively faciobrachial dystonic seizures) in association with detection of LGI1 antibodies in serum or cerebrospinal fluid. Patients may present with confusion, hallucinations, vocalization, paranoia, tangentiality, aggressive outbursts and/or spatial disorientation, as well as obstinate hyponatremia. It is most often non-paraneoplastic, however comorbid tumors, such as small cell lung cancer and thymoma, have been reported.


prostate cancer, non-human animal

description: Prostate cancer that occurs in non-human animals.


bowenoid papulosis

description: Dysplastic papular lesions presenting on the genitalia of either sex. The lesions are associated with human papillomavirus infection. The majority of cases have a benign clinical course, although, a small number of cases with malignant transformation have been reported.


name: autosomal dominant popliteal pterygium syndrome

description: Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.


RNU7-1-related type 1 interferonopathy

description: Any type 1 interferonopathies in which the cause of the disease is a variation in the RNU7-1 gene. Individuals with variants in RNUF7-1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.


Ritscher-Schinzel syndrome 2

description: Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the CCDC22 gene.


name: encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1


feline panleukopenia

description: A highly contagious dna virus infection of the cat family, characterized by fever, enteritis and bone marrow changes. It is also called feline ataxia, feline agranulocytosis, feline infectious enteritis, cat fever, cat plague, and show fever. It is caused by feline panleukopenia virus or the closely related mink enteritis virus or canine parvovirus.


name: persistent truncus arteriosus, non-human animal

description: Persistent truncus arteriosus that occurs in non-human animals.


name: nasopharyngeal carcinoma, susceptibility to, 2


benign neoplasm of brain stem

description: A benign neoplasm that involves the brainstem.


name: mesomelic dwarfism, Reinhardt-Pfeiffer type

description: Mesomelic dwarfism, Reinhardt-Pfeiffer type is characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula.


transient arthropathy

description: Arthropathy that is not permanent.


description: Arterial dissection-lentiginosis is a rare association syndrome, reported in several members of two families to date, and characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (ex. headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities).


name: peroxisome biogenesis disorder, complementation group 3


name: spondyloepiphyseal dysplasia tarda, X-linked

description: X-linked spondyloepiphyseal dysplasia tarda is an inherited skeletal disorder that affects males only. Physical characteristics include moderate short-stature (dwarfism); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck;disproportionatelylong arms,and premature osteoarthritis, especially in the hip joints. Final male adult height ranges from 4 feet 10 inches to 5 feet 6 inches. Other skeletal features of this condition include decreased mobility of the elbow and hip joints, arthritis, and abnormalities of the hip joint which causes the upper leg bones to turn inward. This condition is caused by mutations in the TRAPPC2 gene and is inherited in an X-linked recessive pattern.


Charcot-Marie-Tooth disease type 4B1

description: Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus).


description: A perceptual disorder caused by intoxication with hallucinogen drugs, especially LSD. It is characterized by the recurrence of perceptive disturbances that first develop during intoxication. The contents of the perception and visual imagery range extensively and symptoms may include visual disturbances, hallucinations, and psychoses.


platelet-type bleeding disorder 17

description: An autosomal dominant condition caused by mutation(s) in the GFI1B gene, encoding zinc finger protein Gfi-1b. It is characterized by a tendency for increased bleeding due to abnormal platelet function.


name: mitochondrial complex 1 deficiency, nuclear type 7


name: hyperinsulinemic hypoglycemia with polycystic kidney disease

description: Any hyperinsulinemic hypoglycemia which is accompanied by cystic structures in the kidneys, and in which the cause of the disease is a variation in the PMM2 promoter.


benign metanephric tumor

description: A benign neoplasm that involves the metanephros.


hypertrichosis, non-human animal

description: Hypertrichosis that occurs in non-human animals.


name: osteopetrosis with gingival hamartomas, cattle

description: Osteopetrosis with gingival hamartomas that occurs in cattle.


name: combined deficiency of factor VII and factor X


name: retinal dystrophy in systemic or cerebroretinal lipidoses


name: congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome


name: infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

description: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination.


HBA2-related alpha thalassemia spectrum

description: Mild microcytic anemia caused by biallelic variation in the HBA2 gene.


hepatic encephalopathy, sheep

description: Hepatic encephalopathy that occurs in sheep.


mesomelic dysplasia

description: A form of skeletal dysplasia characterized by shortening of the bones of the middle segments of the limbs (i.e., the radii, ulnae, tibiae and fibulae).


name: mitochondrial myopathy-lactic acidosis-deafness syndrome

description: Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.


cataract 24

description: A cataract that has material basis in variation in the region 17p13.


cataract 17 multiple types

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB1 gene.


cancer affecting bone of limb skeleton

description: A cancer that involves the limb bone.


acute cor pulmonale

description: A form of acute right heart failure produced by a sudden increase in resistance to blood flow in the pulmonary circulation.


ciliary body neoplasm

description: A neoplasm (disease) that involves the ciliary body.


chromosome 5p13 duplication syndrome

description: 5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).


name: partial deletion of the short arm of chromosome 10


Leri pleonosteosis

description: Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner.


name: dyskeratosis congenita, autosomal dominant 6

description: A dyskeratosis congenita that has material basis in an autosomal dominant mutation of ACD on chromosome 16q22.1.


name: mixed epithelial stromal tumor of the kidney

description: A rare, usually benign neoplasm that arises from the kidney. It usually affects females. It is characterized by the presence of a biphasic pattern with tubular and cystic structures in a spindle cell stroma. Patients usually present with flank pain and hematuria.


name: autosomal dominant progressive external ophthalmoplegia

description: Autosomal dominant form of progressive external ophthalmoplegia.


hair nevus

description: A usually benign congenital skin growth that is often pigmented and sometimes develop coarse surface hair. There is a lifetime risk of transformation to malignant melanoma which varies depending on the size of the lesion.


name: autosomal recessive nonsyndromic hearing loss 31

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


pontocerebellar hypoplasia type 5

description: Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5.


persistent truncus arteriosus, pig

description: Persistent truncus arteriosus that occurs in pig.


name: benign infantile seizures associated with mild gastroenteritis

description: Benign infantile seizures associated with mild gastroenteritis is a rare infantile epilepsy syndrome characterized by benign afebrile seizures in previously healthy infants and children (age range 1 month to 6 years) with mild acute gastroenteritis without any central nervous system infection, severe dehydration, or electrolyte imbalances. In most cases the seizures are tonic-clonic with focal origin on EEG, occur between day 1 and 6 following onset of acute gastroenteritis, cease within 24 hours and do not persist after the illness.


progressive myoclonic epilepsy type 8

description: Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the CERS1 gene.


spinocerebellar ataxia type 15/16

description: Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia, tremor and cognitive impairment.


central core myopathy, dog

description: Central core myopathy that occurs in dog.


name: immunodeficiency due to a late component of complement deficiency

description: A genetic deficiency of any membrane attack complex (MAC, also known as terminal component complex (TCC)) component of the complement system (C5, C6, C7, C8, C9). Deficiencies of the terminal complement pathway results in a predisposition to infections, such as invasive meningococcal disease or disseminated gonococcal infection.


name: spondylometaphyseal dysplasia, East African type


name: neuronopathy, distal hereditary motor, autosomal dominant 8

description: Autosomal dominant congenital benign spinal muscular atrophy is a rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfunction are usually also associated.


enzootic pneumonia of calves

description: Chronic endemic respiratory disease of dairy calves and an important component of bovine respiratory disease complex. It primarily affects calves up to six months of age and the etiology is multifactorial. Stress plus a primary viral infection is followed by a secondary bacterial infection. The latter is most commonly associated with pasteurella multocida producing a purulent bronchopneumonia. Sometimes present are mannheimia haemolytica; haemophilus somnus and mycoplasma species.


name: optic atrophy 13 with retinal and foveal abnormalities


AL amyloidosis, non-human animal

description: AL amyloidosis that occurs in non-human animals.


ATM-related cancer predisposition

description: Hereditary cancer predisposition due to variation(s) in the ATM gene. Pathogenic germline variation in ATM confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including breast cancer, ovarian cancer, pancreatic cancer, and prostate cancer.


name: congenital pulmonary airway malformation type 2


name: optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy


name: atypical hemolytic-uremic syndrome with DGKE deficiency


name: syndromic multisystem autoimmune disease due to ITCH deficiency


name: intellectual disability, autosomal dominant 4

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the KIRREL3 gene.


name: alanine glyoxylate aminotransferase deficiency

description: Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGXT gene.


description: X-linked parkinsonism-spasticity syndrome is a rare genetic neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign.


name: pyruvate dehydrogenase E1-beta deficiency

description: Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by severe lactic acidosis, developmental delay and hypotonia.


name: intellectual disability, autosomal recessive 7

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TUSC3 gene.


Charcot-Marie-Tooth disease type 4A

description: Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe, rapidly progressing demyelinating, axonal, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities.


gangliosidosis, dog

description: Gangliosidosis that occurs in dog.


congenital myasthenic syndrome 4B

description: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.


brain stem medulloblastoma

description: A medulloblastoma that involves the brainstem.


viral sexually transmitted disease

description: Viral diseases which are potentially transmitted or propagated by sexual conduct.


name: distal myopathy with anterior tibial onset


erythema palmare hereditarium

description: A rare, benign, congenital genetic skin disorder characterized by permanent and asymptomatic erythema of the palmar and, less frequently, the solar surfaces. In most cases, it presents with sharply demarcated redness of the thenar and hypothenar eminences, as well as the palmar aspect of the phalanges, with scattered telangiectasia spots that do not cause any discomfort (pain, itching or burning) to the patient.


MMEP syndrome

description: A congenital syndromic form of split-hand/foot malformation (SHFM). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies.


familial temporal lobe epilepsy 6

description: A temporal lobe epilepsy that has material basis in variation in the chromosome region 3q25-q26.


autosomal dominant myoglobinuria

description: Autosomal dominant myoglobinuria is a rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997.


spina bifida, rabbit

description: Spina bifida that occurs in rabbit.


name: chromosome 16p12.2-p11.2 deletion syndrome

description: 16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.


name: autosomal recessive spinocerebellar ataxia 20

description: Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the SNX14 gene.


atrial fibrillation, familial, 10

description: Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN5A gene.


name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12

description: Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMK gene.


Acropectorovertebral dysplasia

description: A skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones).


Pectobacterium carotovorum infection

description: A bacterial infection induced by Pectobacterium carotovorum which is is a bacterium of the family Enterobacteriaceae. This bacterius is a ubiquitous plant pathogen with a wide host range (carrot, potato, tomato, leafy greens, squash and other cucurbits, onion, green peppers, African violets etc.), able to cause disease in almost any plant tissue it invades. It is a very economically important pathogen in terms of postharvest losses, and a common cause of decay in stored fruits and vegetables. Decay caused by E. carotovora is often simply referred to as "bacterial soft rot" (BSR) though this may also be caused by other bacteria. Most plants or plant parts can resist invasion by the bacteria, unless some type of wound is present. High humidity and temperatures around 30°C favor development of decay. Mutants can be produced which are less virulent. Virulence factors include: pectinases, cellulases, (which degrade plant cell walls), and also proteases, lipases, xylanases and nucleases (along with the normal virulence factors for pathogens – Fe acquisition, LPS integrity, multiple global regulatory systems).


cryptorchidism, llama

description: Cryptorchidism that occurs in llama.


mesenchymal hamartoma

description: A hamartoma characterized by the presence of mesenchymal elements.


Huntington disease, sheep

description: Huntington disease that occurs in sheep.


name: short-rib thoracic dysplasia 16 with or without polydactyly


name: X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2

description: An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region.


heavy metal poisoning

description: Heavy metal poisoning refers to when excessive exposure to a heavy metal affects the normal function of the body. Examples of heavy metals that can cause toxicity include lead, mercury, arsenic, cadmium, and chromium. Exposure may occur through the diet, from medications, from the environment, or in the course of work or play. Heavy metals can enter the body through the skin, or by inhalation or ingestion. Toxicity can result from sudden, severe exposure, or from chronic exposure over time. Symptoms can vary depending on the metal involved, the amount absorbed, and the age of the person exposed. For example, young children are more susceptible to the effects of lead exposure because they absorb more compared with adults and their brains are still developing. Nausea, vomiting, diarrhea, and abdominal pain are common symptoms of acute metal ingestion. Chronic exposure may cause various symptoms resulting from damage to body organs, and may increase the risk of cancer. Treatment depends on the circumstances of the exposure.


name: blepharophimosis - intellectual disability syndrome


name: autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

description: A syndrome characterized by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal hemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures.


name: autosomal dominant nonsyndromic hearing loss 24

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q35-qter.


name: blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome

description: Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES, which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay.


Histoplasma pericarditis

description: An pericarditis (disease) caused by infection with Histoplasma.


microvillus inclusion disease, pig

description: Microvillus inclusion disease that occurs in pig.


name: congenital hereditary endothelial dystrophy type I

description: Congenital hereditary endothelial dystrophy I (CHED I) is a rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision.


Alexander disease, dog

description: Alexander disease that occurs in dog.


exposure, dental pulp

description: The result of pathological changes in the hard tissue of a tooth caused by carious lesions, mechanical factors, or trauma, which render the pulp susceptible to bacterial invasion from the external environment.


name: scalp defects-postaxial polydactyly syndrome

description: Scalp defects-postaxial polydactyly syndrome is characterized by congenital scalp defects and postaxial polydactyly type A.


night blindness, dog

description: Night blindness that occurs in dog.


fungal infection of the toenail

description: A fungal infectious disease that involves the toenail.


name: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis

description: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the TSR2 gene.


Charcot-Marie-Tooth disease type 2Y

description: Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the VCP gene.


c-P angle neurinoma

description: A schwannoma occurring in the cerebellopontine angle.


obstetric disorder, non-human animal

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


name: myopathy, lactic acidosis, and sideroblastic anemia 3


name: progressive external ophthalmoplegia with mitochondrial DNA deletions


name: inborn disorder of pyrimidine metabolism

description: ANPM


name: sporadic fetal brain disruption sequence

description: Sporadic fetal brain disruption sequence is a rare, non-syndromic, central nervous system malformation disorder characterized by severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment. Brain imaging may show ventriculomegaly, cortical tissue deficit, and hydranencephaly.


cone-rod dystrophy 13

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the RPGRIP1 gene.


name: infertility due to extratesticular cause


name: spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits


posterior urethra cancer

description: A malignant neoplasm that affects the portion of the urethra that is close to the bladder.


name: intellectual developmental disorder, x-linked, syndromic 37


name: partial duplication of the short arm of chromosome 16

description: Chromosome 16p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 16. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 16p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.


epidermal disease

description: A skin disease that involves the epidermis.


name: intellectual disability, autosomal recessive 5

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NSUN2 gene.


name: autosomal dominant cerebellar ataxia type IV


Frias syndrome

description: A rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression.


name: COG5-congenital disorder of glycosylation

description: COG5-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia.


granulomatous prostatitis

description: An infectious or non-infectious inflammatory process that affects the prostate gland. Infectious causative agents include bacteria, parasites, fungi, and viruses. It is characterized by the formation of granulomas in the prostatic tissue.


sex cord-stromal benign neoplasm

description: A reproductive organ benign neoplasm that arises in the ovary or testis and that is composed of granulosa cells, Leydig cells, Sertoli cells, and/or fibroblasts.


cataract 25

description: A cataract that has material basis in variation in the region 15q21-q22.


canine neoplasm

description: A neoplasm that occurs in dogs.


name: short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome

description: Extremely rare primordial dwarfism characterized by short stature, onychodysplasia, facial dysmorphism and hypotrichosis, which is caused by biallelic mutations in the POC1A gene.


acute myeloid leukemia, t(1;22)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(1;22). (A cytogenetic abnormality that involves a translocation between chromosomes 1 and 22.)


name: congenital disorder of glycosylation, type IAA


name: cleft lip/palate-intestinal malrotation-cardiopathy syndrome

description: Cleft lip/palate - intestinal malrotation - cardiopathy is a multiple congenital anomaly syndrome described in 5 patients to date, characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects which were lethal in 3 of the 5 patients reported. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs were reported in individual cases. There have been no further descriptions in the literature since 1997.


description: X-linked neurodegenerative syndrome, Bertini type is characterized by generalized hypotonia, psychomotor deficit, congenital ataxia and recurrent bronchopulmonary infections. It has been described in seven males from three generations of a family. Five of them died during the first years of life and the remaining patients developed myoclonic encephalopathy and macular degeneration. The locus has been mapped to Xp22.33-pter.


name: congenital retinal arteriovenous communication


gingival hypertrophy, non-human animal

description: Gingival hypertrophy that occurs in non-human animals.


description: X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterized by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behavior, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region.


name: inherited focal segmental glomerulosclerosis

description: An instance of focal segmental glomerulosclerosis that is caused by an inherited genomic modification in an individual.


name: qualitative or quantitative defects of desmin


acanthocephaliasis

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


name: frontotemporal dementia and/or amyotrophic lateral sclerosis


Joubert syndrome 22

description: Any Joubert syndrome in which the cause of the disease is a mutation in the PDE6D gene.


name: hereditary sensory and autonomic neuropathy type 1B

description: Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR).


name: hypospadias-intellectual disability, Goldblatt type syndrome

description: Hypospasdias B intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails.


megacolon, domestic cat

description: Megacolon that occurs in domestic cat.


Smith-McCort dysplasia 2

description: Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the RAB33B gene.


name: benign epithelial tumor of salivary glands


postaxial tetramelic oligodactyly

description: Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993.


name: partial duplication of the short arm of chromosome 4


small cell osteogenic sarcoma

description: An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of small cells and osteoid production. The prognosis is usually unfavorable.


duplication of urethra

description: Duplication of the urethra is a rare congenital genitourinary anomaly, encompassing a wide spectrum of anatomic variants in which the urethra is partially or totally duplicated, which may be asymptomatic or cause symptoms such as incontinence, recurrent urinary infections and difficulty urinating.


name: hereditary arterial and articular multiple calcification syndrome

description: Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints.


name: intellectual disability, autosomal dominant 50


retinitis pigmentosa 62

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


name: peroxisome biogenesis disorder 5A (Zellweger)

description: An autosomal recessive condition caused by mutation(s) in the PEX2 gene, encoding peroxisome biogenesis factor 2. Peroxisome biogenesis disorder 5A manifests phenotypically as Zellweger syndrome.


name: neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies


name: combined immunodeficiency with skin granulomas


name: spinocerebellar ataxia, autosomal recessive 22

description: Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the VWA3B gene.


osteoarthritis, horse

description: Osteoarthritis that occurs in horse.


polycystic kidney disease, springbok

description: Polycystic kidney disease that occurs in springbok.


Cowden syndrome 6

description: Any Cowden disease in which the cause of the disease is a mutation in the AKT1 gene.


name: thrombophilia due to protein C deficiency, autosomal dominant


name: partial duplication of the long arm of chromosome 1


Böök syndrome

description: Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics.


name: autosomal recessive primary microcephaly

description: Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.


name: congenital cataracts-facial dysmorphism-neuropathy syndrome

description: Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.


name: intellectual disability, autosomal dominant 16

description: Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCA4 gene.


infant botulism

description: A botulism that occurs between 28 days to one year of life..


name: autoimmune disease of ear, nose and throat

description: An autoimmune form of otorhinolaryngologic disease.


name: pneumonia, atypical interstitial, of cattle

description: A cattle disease of uncertain cause, probably an allergic reaction.


inherited reflex epilepsy

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


multiple personality disorder

description: A disorder characterized by the presence of two or more identities with distinct patterns of perception and personality which recurrently take control of the person's behavior; this is accompanied by a retrospective gap in memory of important personal information that far exceeds ordinary forgetfulness. The changes in identity are not due to substance use or to a general medical condition.


cleft palate, rabbit

description: Cleft palate that occurs in rabbit.


carbon monoxide poisoning

description: A poisoning that is caused by exposure to carbon monoxide.


pulmonary hypertension, pig

description: Pulmonary hypertension that occurs in pig.


congenital myasthenic syndrome 1A

description: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the CHRNA1 gene.


Cowden syndrome 5

description: Any Cowden disease in which the cause of the disease is a mutation in the PIK3CA gene.


cataract 9 multiple types

description: Any cataract (disease) in which the cause of the disease is a mutation in the CRYAA gene.


finger agnosia

description: An agnosia characterized by an inability to distinguish, name, or recognize the fingers


name: congenital accessory mitral valve tissue

description: Accessory mitral valve tissue is a congenital non-syndromic heart malformation defined as an accessory mitral valve leaflet or various accessory mitral valve structures. It may be asymptomatic or present at various ages with symptoms of left ventricular outflow tract obstruction, low cardiac output due to subaortic obstruction or congestive heart failure. In some cases, it may be a source of cardioembolism. The malformation may be isolated or associated with other congenital heart malformations.


name: mitochondrial complex 1 deficiency, nuclear type 21


Ritscher-Schinzel syndrome

description: Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies.


name: arrhythmogenic right ventricular cardiomyopathy, domestic cat

description: Arrhythmogenic right ventricular cardiomyopathy that occurs in domestic cat.


name: partial circumpapillary choroid dystrophy


name: hidrotic ectodermal dysplasia, Christianson-Fourie type

description: Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachicardia or sinus bradicardia.


Bunyaviridae infectious disease

description: Virus diseases caused by the bunyaviridae.


chromosome 2p16.1-p15 deletion syndrome

description: 2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.


description: Polysyndactyly-cardiac malformation syndrome is characterized by polysyndactyly, hexadactyly (duplication of the first toe) and complex cardiac malformation (including atrial and ventricular septal defect, single ventricle, aortic dextroposition, or dilation of the right heart). It has been described in six patients from three unrelated families. Other manifestations were present in some patients (i.e. facial dysmorphism, hepatic cysts).


name: acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent

description: Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent is a subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain).


diabetic cataract, degu

description: Diabetic cataract that occurs in degu.


cryptogenic late-onset epileptic spasms

description: Cryptogenic late-onset epileptic spasms is a rare epilepsy syndrome characterized by late-onset (after 1 year old) epileptic spasms that occur in clusters, associated with tonic seizures, atypical absences and cognitive deterioration. Language difficulties and behavior problems are frequently present. EEG is characterized by a temporal, or temporofrontal, slow wave or spike focus combined with synchronous spike-waves and no hypsarrhythmia or background activity.


paraneoplastic rheumatic syndrome

description: Paraneoplastic syndrome that involves the joints, bones, muscles, and/or connective tissue.


totally drug-resistant tuberculosis

description: A type of drug-resistant tuberculosis that is resistant to all first- and second-line antitubercular drugs tested (isoniazid, rifampicin, streptomycin, ethambutol, pyrazinamide, ethionamide, para-aminosalicylic acid, cycloserine, ofloxacin, amikacin, ciprofloxacin, capreomycin, kanamycin).


isolated trigonocephaly

description: Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture.


lipofibromatosis-like neural tumor

description: A connective tissue cancer that has material basis in LMNA-NTRK1 gene fusion.


Barmah forest virus disease

description: A disease caused by infection with Barmah Forest virus.


PARC syndrome

description: PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990.


name: isolated congenitally uncorrected transposition of the great arteries


oculoauricular syndrome

description: Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy), and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisure, abnormal bridge connecting the crus of the helix and the anthelix, narrow external acoustic meatus, and lobule aplasia).


Chediak-Higashi syndrome, Arctic fox

description: Chediak-Higashi syndrome that occurs in Arctic fox.


trigonitis

description: Inflammation of the trigone of the urinary bladder.


retinitis pigmentosa 38

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


osteoarthritis, spine

description: A degenerative joint disease involving the spine. It is characterized by progressive deterioration of the spinal articular cartilage (cartilage, articular), usually with hardening of the subchondral bone and outgrowth of bone spurs (osteophyte).


name: capillary malformation-arteriovenous malformation 1


nemaline myopathy 3

description: An inherited myopathy caused by mutations in the ACTA1 gene, encoding actin, alpha skeletal muscle. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, typically involving proximal muscles, the face, bulbar and respiratory muscles.


name: autosomal recessive nonsyndromic hearing loss 40

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 22q11.21-q12.1.


name: microcephaly 21, primary, autosomal recessive


name: symptomatic form of Coffin-Lowry syndrome in female carriers


vulva sarcoma

description: A malignant mesenchymal neoplasm that arises from the vulva. Representative examples include childhood botryoid-type embryonal rhabdomyosarcoma, alveolar soft part sarcoma, and leiomyosarcoma.


name: spondylocostal dysostosis-anal and genitourinary malformations syndrome

description: Spondylocostal dysostosis-anal and genitourinary malformations syndrome is characterized by the association of spondylocostal dysostosis with anal and genitourinary malformations (anal atresia and agenesis of external and internal genitalia). To date, only four cases have been described in the literature. Autosomal recessive inheritance has been suggested.


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

description: Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the LRSAM1 gene.


patent ductus arteriosus, dog

description: Patent ductus arteriosus that occurs in dog.


pyoderma, non-human animal

description: Pyoderma that occurs in non-human animals.


autosomal recessive osteopetrosis 8

description: Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the SNX10 gene.


episodic ataxia type 3

description: Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia.


granuloma annulare

description: Granuloma annulare is a long-term (chronic) skin disease consisting of a rash with reddish bumps arranged in a circle or ring. The most commonly affected areas are the forearms, hands and feet. The lesions associated with granuloma annulare usually resolve without treatment. Strong steroids (applied as a cream or injection) are sometimes used to clear the rash more quickly. Most symptoms will disappear within 2 years (even without treatment), but recurrence is common. The underlying cause of granuloma annulare is unknown.


viral exanthem

description: A virus-induced exanthem


photosensitive trichothiodystrophy

description: A trichothiodystrophy that is photosensitive, and caused by defects in the NER pathway


startle epilepsy

description: Startle epilepsy is a rare neurologic disease characterized by frequent and spontaneous epileptic seizures (frequently with symmetrical or asymmetrical tonic features) triggered by a normal startle in response to a sudden and unexpected somatosensory (most frequently auditory) stimulus. Falls are common and can be traumatic. In most cases, the disease is associated with spastic hemi-, di-, or tetraplegia and intellectual disability.


name: proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis


microcephaly and chorioretinopathy 1

description: An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy.


name: neurodevelopmental disorder with eye movement abnormalities and ataxia


name: glomerulopathy with fibronectin deposits 1


name: intellectual disability, autosomal recessive 11


chronic monocytic leukemia

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


Marburg acute multiple sclerosis

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


name: microcephaly 25, primary, autosomal recessive


gastrointestinal anthrax

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


name: peroxisome biogenesis disorder due to PEX13 defect

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


Marfan syndrome, cattle

description: Marfan syndrome that occurs in cattle.


van den Ende-Gupta syndrome

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


name: carnitine palmitoyl transferase II deficiency, myopathic form

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


name: partial trisomy/tetrasomy of chromosome 18

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


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


CEDNIK syndrome

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


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

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


hypoparathyroidism, non-human animal

description: Hypoparathyroidism that occurs in non-human animals.


immunodeficiency 49

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


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


name: nasopharyngeal carcinoma, susceptibility to, 3

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


myopathy of extraocular muscle

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


intellectual disability, X-linked 90

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


achondrogenesis type II

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


sacral nerve plexus disorder

description: A disease that involves the sacral nerve plexus.


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

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


c8 deficiency, rabbit

description: C8 deficiency that occurs in rabbit.


name: autosomal dominant Ehlers-Danlos syndrome, vascular type

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


name: brain dopamine-serotonin vesicular transport disease

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


goat disease

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


chicken monocytic leukemia

description: Monocytic leukemia that occurs in a chicken.


gingival hypertrophy, dog

description: Gingival hypertrophy that occurs in dog.


spinocerebellar ataxia type 42

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


disseminated candidiasis

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


Al-Gazali syndrome

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


name: congenital stationary night blindness autosomal dominant 1

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


superior vena cava angiosarcoma

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


name: developmental and epileptic encephalopathy, 31

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


ATP1A3-associated neurological disorder

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


name: juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome


name: fatal multiple mitochondrial dysfunctions syndrome

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


name: hypogonadotropic hypogonadism 16 with or without anosmia

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


intracranial embolism

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


ectomesenchymoma

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


diabetes mellitus, koala

description: Diabetes mellitus that occurs in koala.


name: autosomal dominant nonsyndromic hearing loss 33

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


Meckel syndrome, type 4

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


name: syndromic X-linked intellectual disability 17

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


name: osteochondritis of tarsal/metatarsal bone

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


name: Charcot-Marie-Tooth disease dominant intermediate B

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


spermatogenic failure 17

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


name: neurodevelopmental disorder with midbrain and hindbrain malformations


myopathy, non-human animal

description: Myopathy that occurs in non-human animals.


name: mitochondrial complex 4 deficiency, nuclear type 21


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


congenital myasthenic syndrome 9

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


retinitis pigmentosa 59

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


name: medium/large size posterior uveal melanoma

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


name: mitochondrial complex 1 deficiency, nuclear type 2


hereditary spastic paraplegia 26

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


name: developmental and epileptic encephalopathy 115


adult brain stem neoplasm

description: A brainstem neoplasm that occurs in an adult.


name: human T-lymphotropic virus 1 infectious disease

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


azoospermia, horse

description: Azoospermia that occurs in horse.


name: dystrophic epidermolysis bullosa pruriginosa

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


endometrial stromal nodule

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


name: intellectual disability, autosomal dominant 46


hepatic encephalopathy, dog

description: Hepatic encephalopathy that occurs in dog.


Imerslund-Grasbeck syndrome type 2

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


nasopharyngeal disorder

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


name: chondrocalcinosis due to apatite crystal deposition


self-healing papular mucinosis

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


aplasia cutis congenita dominant

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


testicular pure germ cell tumor

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


chronic congestive splenomegaly

description: Chronic form of congestive splenomegaly.


name: developmental and epileptic encephalopathy, 32

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


name: congenital generalized hypercontractile muscle stiffness syndrome


name: spondyloepimetaphyseal dysplasia, Handigodu type

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


name: microcephaly 3, primary, autosomal recessive

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


disorder of magnesium transport

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


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


name: chondrodysplasia punctata, Toriello type

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


integumentary system benign neoplasm

description: A benign neoplasm that involves the integumental system.


name: hereditary motor and sensory neuropathy with acrodystrophy

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


Hennekam-Beemer syndrome

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


name: muscular dystrophy, limb-girdle, autosomal dominant

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


oromandibular-limb hypogenesis syndrome

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


craniosynostosis, Herrmann-Opitz type

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


name: cancer or benign tumor, non-human animal

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


larynx liposarcoma

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


name: neurodevelopmental disorder with structural brain anomalies and dysmorphic facies


auditory system disorder

description: A disease involving the auditory system.


name: palmoplantar keratoderma, punctate type ib


substance abuse

description: The use of a drug for a reason other than which it was intended or in a manner or in quantities other than directed.


Bonnemann-Meinecke-Reich syndrome

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


nabothian cyst

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


benign choroid plexus neoplasm

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


prostatic urethral cancer

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


posterolateral myocardial infarction

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


name: punctate palmoplantar keratoderma type III

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


name: arthrogryposis, renal dysfunction, and cholestasis 1

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


bulbospinal polio

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


primary viral infectious disease

description: The initial viral infectious disase that causes illness.


distal trisomy 16q

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


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


acromegaly, domestic cat

description: Acromegaly that occurs in domestic cat.


AA amyloidosis, island gray fox

description: AA amyloidosis that occurs in island gray fox.


name: central centrifugal cicatricial alopecia


torovirus infectious disease

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


renal hypoplasia, unilateral

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


intellectual disability, X-linked 99

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


Aicardi-Goutieres syndrome 4

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


cyclosporiasis

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


name: congenital complete agenesis of pericardium

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


exostosis, Dupuytren subungual

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


name: autoimmune encephalopathy with parasomnia and obstructive sleep apnea

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


name: palmoplantar keratoderma, Nagashima type

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


Lisch epithelial corneal dystrophy

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


name: autosomal recessive nonsyndromic hearing loss 70

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


psychiatric disorder

description: A disorder characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. The symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. Representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia.


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


Wilson disease, sheep

description: Wilson disease that occurs in sheep.


name: cellular phase chronic idiopathic myelofibrosis

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


cancer of long bone of upper limb

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


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


name: congenital neuronal ceroid lipofuscinosis

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


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


malignant tenosynovial giant cell tumor

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


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

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


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


name: autosomal dominant optic atrophy and peripheral neuropathy

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


nephronophthisis-like nephropathy 1

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


name: tooth agenesis, selective, with orofacial cleft


name: autosomal recessive nonsyndromic hearing loss 18A

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


name: autosomal recessive nonsyndromic hearing loss 89

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


name: mitochondrial trifunctional protein deficiency 2


name: congenital stationary night blindness autosomal dominant 2

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


name: autosomal recessive combined immunodeficiency due to complete IL6ST deficiency


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


microtia, non-human animal

description: Microtia that occurs in non-human animals.


retinitis pigmentosa 6

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


freemartinism

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


name: dystrophies primarily involving the retinal pigment epithelium


name: Strongylida infectious disease, non-human animal

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


dog disease

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


paroxysmal nocturnal hemoglobinuria 1

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


Langer mesomelic dysplasia

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


name: XYLT1-congenital disorder of glycosylation


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


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


name: factor XII deficiency, common bottlenose dolphin

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


name: microcephalic osteodysplastic primordial dwarfism type II

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


name: aniridia-cerebellar ataxia-intellectual disability syndrome

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


cardiovascular organ benign neoplasm

description: A benign neoplasm that involves the cardiovascular system.


name: combined immunodeficiency due to moesin deficiency


rheumatoid arthritis, non-human animal

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


Stern-Lubinsky-Durrie syndrome

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


heterotaxy, visceral, 1, X-linked

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


name: spastic paraplegia 70, autosomal recessive


holoprosencephaly, non-human animal

description: Holoprosencephaly that occurs in non-human animals.


aleukemic leukemia cutis

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


name: agammaglobulinemia 5, autosomal dominant

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


internal hemorrhoid

description: A hemorrhoid which originates above the dentate line.


name: inflammatory bowel disease-recurrent sinopulmonary infections syndrome


name: intellectual developmental disorder, autosomal dominant 66


intraorbital meningioma

description: A meningioma that affects the intraorbital structures.


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


infection caused by Bifidobacterium

description: A disease caused by infection with Bifidobacterium.


name: hypothyroidism, congenital, nongoitrous, 5

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


factor XII deficiency, killer whale

description: Factor XII deficiency that occurs in killer whale.


hereditary spastic paraplegia 24

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


3q27.3 microdeletion syndrome

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


BBS10-related ciliopathy

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


name: chromosome 1p36 deletion syndrome, proximal


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


name: cardiomyopathy hypogonadism metabolic anomalies


craniosynostosis 6

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


name: autosomal dominant mitochondrial myopathy with exercise intolerance


orofacial cleft 15

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


name: autosomal dominant nonsyndromic hearing loss 22

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


name: TH-deficient progressive infantile encephalopathy

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


name: microphthalmia, isolated, with coloboma 9

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


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

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


name: autosomal recessive congenital ichthyosis 10

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


name: complex cortical dysplasia with other brain malformations 3

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


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


xeroderma pigmentosum group E

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


bovine neoplasm

description: A neoplasm that occurs in cattle.


name: infection-related hemolytic uremic syndrome


name: congenital anomaly of the mitral subvalvular apparatus


osteoarthritis, non-human animal

description: Osteoarthritis that occurs in non-human animals.


ABCA4-related retinopathy

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


intellectual disability, X-linked 30

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


subendocardial myocardial infarction

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


Bothnia retinal dystrophy

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


pontocerebellar hypoplasia type 2B

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


female reproductive system disorder

description: A disease involving the female reproductive system.


intracranial berry aneurysm

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


short stature due to GHSR deficiency

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


name: ventricular fibrillation, paroxysmal familial, 2

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


endocardial fibroelastosis, dog

description: Endocardial fibroelastosis that occurs in dog.


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

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


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

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


name: lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome

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


Bardet-Biedl syndrome 16

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


adactylia, unilateral

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


name: mucopolysaccharidosis type 6, rapidly progressing


laryngocele

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


linear focal dermal elastosis

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


name: developmental and epileptic encephalopathy 112


name: disorder of metabolite absorption and transport


familial goiter, pig

description: Familial goiter that occurs in pig.


advanced sleep phase syndrome 1

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


post-viral disorder, non-human animal

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


enuresis, nocturnal, 1

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


congenital myasthenic syndrome 7

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